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Sample records for include developmental delay

  1. Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.

    Science.gov (United States)

    Boyle, Lia; Wamelink, Mirjam M C; Salomons, Gajja S; Roos, Birthe; Pop, Ana; Dauber, Andrew; Hwa, Vivian; Andrew, Melissa; Douglas, Jessica; Feingold, Murray; Kramer, Nancy; Saitta, Sulagna; Retterer, Kyle; Cho, Megan T; Begtrup, Amber; Monaghan, Kristin G; Wynn, Julia; Chung, Wendy K

    2016-06-02

    Whole-exome sequencing (WES) is increasingly being utilized to diagnose individuals with undiagnosed disorders. Developmental delay and short stature are common clinical indications for WES. We performed WES in three families, using proband-parent trios and two additional affected siblings. We identified a syndrome due to an autosomal-recessively inherited deficiency of transketolase, encoded by TKT, on chromosome 3p21. Our series includes three families with a total of five affected individuals, ranging in age from 4 to 25 years. Two families of Ashkenazi Jewish ancestry were homozygous for an 18 base pair in-frame insertion in TKT. The third family was compound heterozygous for nonsense and missense variants in TKT. All affected individuals had short stature and were developmentally delayed. Congenital heart defects were noted in four of the five affected individuals, and there was a history of chronic diarrhea and cataracts in the older individuals with the homozygous 18 base pair insertion. Enzymatic testing confirmed significantly reduced transketolase activity. Elevated urinary excretion of erythritol, arabitol, ribitol, and pent(ul)ose-5-phosphates was detected, as well as elevated amounts of erythritol, arabitol, and ribitol in the plasma of affected individuals. Transketolase deficiency reduces NADPH synthesis and nucleic acid synthesis and cell division and could explain the problems with growth. NADPH is also critical for maintaining cerebral glutathione, which might contribute to the neurodevelopmental delays. Transketolase deficiency is one of a growing list of inborn errors of metabolism in the non-oxidative part of the pentose phosphate pathway. Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  2. Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems

    Directory of Open Access Journals (Sweden)

    Capra Valeria

    2012-10-01

    Full Text Available Abstract Background Deletions and duplications of the PAFAH1B1 and YWHAE genes in 17p13.3 are associated with different clinical phenotypes. In particular, deletion of PAFAH1B1 causes isolated lissencephaly while deletions involving both PAFAH1B1 and YWHAE cause Miller-Dieker syndrome. Isolated duplications of PAFAH1B1 have been associated with mild developmental delay and hypotonia, while isolated duplications of YWHAE have been associated with autism. In particular, different dysmorphic features associated with PAFAH1B1 or YWHAE duplication have suggested the need to classify the patient clinical features in two groups according to which gene is involved in the chromosomal duplication. Methods We analyze the proband and his family by classical cytogenetic and array-CGH analyses. The putative rearrangement was confirmed by fluorescence in situ hybridization. Results We have identified a family segregating a 17p13.3 duplication extending 329.5 kilobases by FISH and array-CGH involving the YWHAE gene, but not PAFAH1B1, affected by a mild dysmorphic phenotype with associated autism and mental retardation. We propose that BHLHA9, YWHAE, and CRK genes contribute to the phenotype of our patient. The small chromosomal duplication was inherited from his mother who was affected by a bipolar and borderline disorder and was alcohol addicted. Conclusions We report an additional familial case of small 17p13.3 chromosomal duplication including only BHLHA9, YWHAE, and CRK genes. Our observation and further cases with similar microduplications are expected to be diagnosed, and will help better characterise the clinical spectrum of phenotypes associated with 17p13.3 microduplications.

  3. Monozygotic twins with a de novo 0.32 Mb 16q24.3 deletion, including TUBB3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformation

    DEFF Research Database (Denmark)

    Grønborg, Sabine; Kjaergaard, Susanne; Hove, Hanne

    2015-01-01

    been associated with missense mutations in this group of genes. Here, we report two patients, monozygotic twins, carrying a de novo 0.32 Mb deletion of chromosome 16q24.3 including the TUBB3 gene. The patients presented with global developmental delay, mild facial dysmorphism, secondary microcephaly...

  4. OCULAR DISORDERS IN CHILDREN WITH DEVELOPMENTAL DELAY

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    Meera Suresh Joshi

    2017-08-01

    Full Text Available BACKGROUND In India, an estimated 1.5-2.5% children below 2 years of age are developmentally delayed. A higher incidence of ocular disability is seen in these children, refractive errors and strabismus being most common. These can add to the overall burden of health as most of them have developmental comorbidities. The aim of the study is to study the ocular disorders in children with developmental delay. MATERIALS AND METHODS We studied 112 children between the 2-12 years of age diagnosed to have developmental delay. All the subjects underwent a detailed ophthalmic evaluation including visual acuity testing using Snellen’s charts (3m and 6m and Log MAR charts (recorded as per Snellen’s vision testing to maintain uniformity, cycloplegic refraction, torchlight and slit-lamp evaluation and dilated fundus examination. The data was tabulated and represented using bar diagrams, Pie charts and graphs. The results were expressed as percentages. Design-Cross-sectional, observational study. RESULTS 66 boys and 46 girls (total 112 were evaluated. The mean age of the study population was 7.8 years ± 2.4 SD. The aetiology of developmental delay was cerebral palsy (64%, Down syndrome (22%, autism (7%, intellectual disability (4.5% and 1 case each of congenital hypothyroidism and ataxia telangiectasia. The prevalence of ocular disorders was found to be 84.8%, which was slightly higher in girls (87% as compared to boys (83%. Refractive error (79.5% was the commonest ocular disorder followed by strabismus (46.4%. Astigmatism (44.6% was the commonest refractive error, which was divided into myopic astigmatism (19.6%, hyperopic astigmatism (13.8% and mixed astigmatism (11.2%. Simple hyperopia was seen in 21.9% subjects and simple myopia in 12.1%. Exotropia (52% was commoner than esotropia (48%. Other ocular abnormalities included optic atrophy, nystagmus, epicanthal folds, cataract, mongoloid slant, ptosis, telecanthus, conjunctival telangiectasia and

  5. Delaying Developmental Mathematics: The Characteristics and Costs

    Science.gov (United States)

    Johnson, Marianne; Kuennen, Eric

    2004-01-01

    This paper investigates which students delay taking a required developmental mathematics course and the impact of delay on student performance in introductory microeconomics. Analysis of a sample of 1462 students at a large Midwestern university revealed that, although developmental-level mathematics students did not reach the same level of…

  6. Socioeconomic disadvantage and developmental delay among US children aged 18 months to 5 years.

    Science.gov (United States)

    Simon, Alan E; Pastor, Patricia N; Avila, Rosa M; Blumberg, Stephen J

    2013-08-01

    Few studies have examined the relationship between sociodemographic factors and a population-based measure of developmental delay in US children. We identify sociodemographic factors associated with unlikely, probable and possible developmental delay in preschool US children using nationally representative data. All children aged 18 months to 5 years in the 2007 National Survey of Children's Health were categorised into three groups based on the likelihood of developmental delay (unlikely delay, possible delay and probable delay) using a modified survey version of the Parents' Evaluation of Developmental Status questionnaire. Bivariate and multivariate multinomial logistic regressions were used to assess relations between sociodemographic variables and risk of developmental delay. Children had increased odds of probable delay (compared with unlikely delay) if they were older (adjusted OR (aOR)=1.41/additional year above the youngest age group (18 months-2 years), pincome (aOR=1.33 for each decreasing category of poverty level, p10 h/week of care at another family's home (aOR=1.71, p<0.05). Only four characteristics (being older, male, low birth weight and Hispanic living in a non-English-speaking household) were associated with increased odds of possible delay compared with unlikely delay. Multiple factors, including demographic characteristics and indicators of social disadvantage, distinguish children with probable developmental delay from those unlikely to have developmental delay. Fewer factors identify children with possible delay.

  7. Menstrual management in developmentally delayed adolescent females.

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    Chuah, Irene; McRae, Alexandra; Matthews, Kim; Maguire, Ann M; Steinbeck, Katharine

    2017-06-01

    Requests for assistance in menstrual management and menstrual suppression are a common, emotive and sometimes controversial aspect of adolescent disability care. To review the uptake and outcomes of menstrual suppression among adolescent patients with developmental delay. A retrospective review of the medical records of adolescent females with intellectual disability referred for menstrual management to the Paediatric and Adolescent Gynaecology Clinic, Children's Hospital at Westmead, Sydney, for the three-year period between January 1, 2010 and January 1, 2013. Eighty adolescent patients with developmental delay were identified. A third (n = 28) of the patients were pre-menarcheal at first review with parent/caregivers seeking anticipatory advice. Of the post-menarcheal patients, the median age of menarche was 12 years (range 10-15 years). First and second line interventions were documented as were reasons for change where applicable. The combined oral contraceptive pill (COCP) was the most frequently used therapy (67%), and 19 patients in total had a levonorgestrel releasing intrauterine system (LNG-IUS) inserted (31%). Our study population differs from similar previously published groups in the marked absence of the use of depot medroxyprogesterone acetate or the subdermal etonogestrel releasing device. As a paediatrician, it is important to address menstrual management issues and allay caregiver concerns with appropriate advice. Our study supports the use of the COCP as sound first line management in achieving menstrual suppression. The LNG-IUS appears to be a favourable second line option. Further investigation into longer-term outcomes and potential complications of device insertion is recommended. © 2017 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  8. Smart Toys Designed for Detecting Developmental Delays

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    Diego Rivera

    2016-11-01

    Full Text Available In this paper, we describe the design considerations and implementation of a smart toy system, a technology for supporting the automatic recording and analysis for detecting developmental delays recognition when children play using the smart toy. To achieve this goal, we take advantage of the current commercial sensor features (reliability, low consumption, easy integration, etc. to develop a series of sensor-based low-cost devices. Specifically, our prototype system consists of a tower of cubes augmented with wireless sensing capabilities and a mobile computing platform that collect the information sent from the cubes allowing the later analysis by childhood development professionals in order to verify a normal behaviour or to detect a potential disorder. This paper presents the requirements of the toy and discusses our choices in toy design, technology used, selected sensors, process to gather data from the sensors and generate information that will help in the decision-making and communication of the information to the collector system. In addition, we also describe the play activities the system supports.

  9. Visual Abilities in Children with Developmental Delay

    DEFF Research Database (Denmark)

    Welinder, Lotte G; Baggesen, Kirsten L

    for vision. All students with visual acuities ≤6/12 were refractioned and examined by an ophthalmologist. Results:  Of 502 students, 56 (11%) had visual impairment (VI) [visual acuity (VA) ≤ 6/18], of which 21 had been previously undiagnosed. Legal blindness was found in 15 students (3%), of whom three had......Purpose:  To investigate the visual abilities of students with severe developmental delay (DD) age 6-8 starting in special needs education. Methods:  Between 1 January 2000 and 31 December 2008, we screened all students with severe DD starting in special needs schools in Northern Jutland, Denmark...... previously been undiagnosed. Students tested with preferential looking systems (N = 78) had significantly lower visual acuities [VA (decimal) = 0.55] than students tested with ortho types [VA (decimal) = 0.91] and had problems participating in the colour and form tests, possibly due to cerebral VI...

  10. Brain MR imaging in children with psychomotor developmental delay

    International Nuclear Information System (INIS)

    Hirai, Toshinori; Korogi, Yukunori; Sakamoto, Yuji; Furusawa, Mitsuhiro; Hamatake, Satoshi; Takahashi, Mutsumasa

    1994-01-01

    Fifty-two patients with developmental delay of unknown cause underwent MR imaging of the brain. Their ages ranged from 5 months to 22 years, with a mean of 2.2 years. Thirty-seven (71%) had positive MR findings, including nine with congenital malformation, nine with atrophy, six with white matter lesion, five with delayed myelination, five with atrophy and delayed myelination, two with acquired injury of corpus callosum, and one with ulegyria. Congenital malformations obtained included holoprosencephaly, polymicrogyria, dysgenesis of corpus callosum, hypoplasia of cerebellum, and tuberous sclerosis. Abnormal MR findings were frequently observed both in the children with neurologic physical findings and in generally retarded children, while in the children with suspected autism, MR imaging did not demonstrate any abnormalities. Of 24 patients with epilepsy, abnormal MR findings were obtained in 17 patients (71%). The frequency of white matter lesion and atrophy was slightly higher in the patients with epilepsy. However, no significant correlations were found between MR findings and the presence of epilepsy. Also, no significant correlations were obtained between MR findings and the degree of developmental quotient (DQ). Severely injured cases did not necessarily show abnormal findings on MRI. (author)

  11. Brain MR imaging in children with psychomotor developmental delay

    Energy Technology Data Exchange (ETDEWEB)

    Hirai, Toshinori; Korogi, Yukunori; Sakamoto, Yuji; Furusawa, Mitsuhiro; Hamatake, Satoshi; Takahashi, Mutsumasa (Kumamoto Univ. (Japan). School of Medicine)

    1994-06-01

    Fifty-two patients with developmental delay of unknown cause underwent MR imaging of the brain. Their ages ranged from 5 months to 22 years, with a mean of 2.2 years. Thirty-seven (71%) had positive MR findings, including nine with congenital malformation, nine with atrophy, six with white matter lesion, five with delayed myelination, five with atrophy and delayed myelination, two with acquired injury of corpus callosum, and one with ulegyria. Congenital malformations obtained included holoprosencephaly, polymicrogyria, dysgenesis of corpus callosum, hypoplasia of cerebellum, and tuberous sclerosis. Abnormal MR findings were frequently observed both in the children with neurologic physical findings and in generally retarded children, while in the children with suspected autism, MR imaging did not demonstrate any abnormalities. Of 24 patients with epilepsy, abnormal MR findings were obtained in 17 patients (71%). The frequency of white matter lesion and atrophy was slightly higher in the patients with epilepsy. However, no significant correlations were found between MR findings and the presence of epilepsy. Also, no significant correlations were obtained between MR findings and the degree of developmental quotient (DQ). Severely injured cases did not necessarily show abnormal findings on MRI. (author).

  12. [Neuropsychomotor developmental delay: conceptual map, term definitions, uses and limitations].

    Science.gov (United States)

    Dornelas, Lílian de Fátima; Duarte, Neuza Maria de Castro; Magalhães, Lívia de Castro

    2015-01-01

    To retrieve the origin of the term neuropsychomotor developmental delay" (NPMD), its conceptual evolution over time, and to build a conceptual map based on literature review. A literature search was performed in the SciELO Brazil, Web of Science, Science Direct, OneFile (GALE), Pubmed (Medline), Whiley Online, and Springer databases, from January of 1940 to January of 2013, using the following keywords NPMD delay, NPMD retardation, developmental delay, and global developmental delay. A total of 71 articles were selected, which were used to build the conceptual map of the term. Of the 71 references, 55 were international and 16 national. The terms developmental delay and global developmental delay were the most frequently used in the international literature and, in Brazil, delayed NPMD was the most often used. The term developmental delay emerged in the mid 1940s, gaining momentum in the 1990 s. In Brazil, the term delayed NPMD started to be used in the 1980s, and has been frequently cited and published in the literature. Delayed development was a characteristic of 13 morbidities described in 23 references. Regarding the type of use, 19 references were found, with seven forms of use. Among the references, 34 had definitions of the term, and 16 different concepts were identified. Developmental delay is addressed in the international and national literature under different names, various applications, and heterogeneous concepts. Internationally, ways to improve communication between professionals have been indicated, with standardized definition of the term and use in very specific situations up to the fifth year of life, which was not found in Brazilian publications. Copyright © 2014 Associação de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

  13. Promoting Healthy Weight among Children with Developmental Delays

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    Natale, Ruby R.; Camejo, Stephanie T.; Asfour, Lila; Uhlhorn, Susan B.; Delamater, Alan; Messiah, Sarah E.

    2017-01-01

    An extensive body of research demonstrates a higher prevalence of obesity among children with developmental delays (DD) versus children without delays. This analysis examined the effectiveness of a randomized controlled trial to promote healthy weight in a subsample of preschool-age children with DD (n = 71) on the adoption of quality nutrition…

  14. Clinical profile of children with developmental delay and microcephaly

    Science.gov (United States)

    Aggarwal, Anju; Mittal, Hema; Patil, Rahul; Debnath, Sanjib; Rai, Anuradha

    2013-01-01

    Aim: To study the profile of children with developmental delay and microcephaly. Materials and Methods: Children attending child development clinic with developmental delay were evaluated as per protocol. Z scores of head circumference were calculated using WHO charts. Clinical, radiological and etiological profile of those with microcephaly and those without was compared. Results: Of the 414 children with developmental delay 231 had microcephaly (z score ≤ -3). Mean age of children with microcephaly was 35.1 ± 27.9 months (range 4-184), males (72.7%). Comorbidities were epilepsy (42.9%), visual abnormality (26.4%), hearing abnormality (16.9%). Mean DQ was 29.75 + 17.8 in those with microcephaly was significantly lower compared to the rest (P = 0.002). Secondary microcephaly was associated with cerebral palsy in 69.7%. Other causes were congenital infections (4), inborn error of metabolism (3), post-meningoencephalitis (5), malformations (12), and syndromic (13). Neuroimaging was done in 118 (51.1%) cases of which 104 (88.1%) were abnormal. On comparison children with microcephaly had more epilepsy, lower developmental quotient, vision abnormalities findings as compared to normocephalic children with developmental delay (P > 0.05). Conclusion: Microcephaly was associated with lower, DQ, higher comorbidities in children with developmental delay. Spastic CP is commonly associated with microcephaly. PMID:24250161

  15. Clinical profile of children with developmental delay and microcephaly

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    Anju Aggarwal

    2013-01-01

    Full Text Available Aim: To study the profile of children with developmental delay and microcephaly. Materials and Methods: Children attending child development clinic with developmental delay were evaluated as per protocol. Z scores of head circumference were calculated using WHO charts. Clinical, radiological and etiological profile of those with microcephaly and those without was compared. Results: Of the 414 children with developmental delay 231 had microcephaly (z score ≤ -3. Mean age of children with microcephaly was 35.1 ± 27.9 months (range 4-184, males (72.7%. Comorbidities were epilepsy (42.9%, visual abnormality (26.4%, hearing abnormality (16.9%. Mean DQ was 29.75 + 17.8 in those with microcephaly was significantly lower compared to the rest (P = 0.002. Secondary microcephaly was associated with cerebral palsy in 69.7%. Other causes were congenital infections (4, inborn error of metabolism (3, post-meningoencephalitis (5, malformations (12, and syndromic (13. Neuroimaging was done in 118 (51.1% cases of which 104 (88.1% were abnormal. On comparison children with microcephaly had more epilepsy, lower developmental quotient, vision abnormalities findings as compared to normocephalic children with developmental delay (P > 0.05. Conclusion: Microcephaly was associated with lower, DQ, higher comorbidities in children with developmental delay. Spastic CP is commonly associated with microcephaly.

  16. Correlation between high-risk pregnancy and developmental delay ...

    African Journals Online (AJOL)

    Background: The future development of children is considered more than ever now due to the advances in medical knowledge and thus the increase in survival rates of high-risk infants. This study investigated the correlation between high-risk pregnancy and developmental delay in children aged 4- 60 months. Methods: ...

  17. Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay

    NARCIS (Netherlands)

    Clayton, P. T.; Eckhardt, S.; Wilson, J.; Hall, C. M.; Yousuf, Y.; Wanders, R. J.; Schutgens, R. B.

    1994-01-01

    A boy aged 21 months who was being investigated for developmental delay and failure to thrive was found to have punctate epiphyseal calcification. He had no evidence of rhizomelic shortening of the limbs or cataracts. Investigation revealed defective plasmalogen synthesis due to isolated deficiency

  18. Developmental delay of infants and young children with and without ...

    African Journals Online (AJOL)

    African Journal of Psychiatry • September 2011. 298 ... 1Institute for Child, Youth and Family Studies, Hugenote College, University of Stellenbosch, Stellenbosch, South Africa. 2Centre for ... Objective: To describe the extent and nature of developmental delay at different stages in childhood in a community in South. Africa ...

  19. Developmental delays at arrival and postmenarcheal Chinese adolescents' adjustment.

    Science.gov (United States)

    Tan, Tony X; Rice, Jessica L; Mahoney, E Emily

    2015-01-01

    Internationally adopted (IA) children often have delays at adoption and undergo massive catch-up after adoption. Before achieving developmental catch-up, however, delays at adoption present a risk for IA children's adjustment, but it remains unknown whether such delays foreshadow IA children's outcomes after catch-up development has completed or ceased. In the current analysis, we utilized menarche as a practical marker to indicate the cessation of developmental catch-up. We investigated how delays at arrival predicted long-term outcomes in 132 postmenarcheal teens (M = 14.2 years, SD = 1.7) who were adopted from China at 16.6 months (SD = 17.1). In 2005, adoptive parents provided data of medical evaluation results on their children's delay status in gross motor skills, fine motor skills, social development, emotional development, and cognitive development. Six years later in 2011, data on parent-child relationship quality were collected from parents, and data on the adoptees' academic competence and internalizing problems were also collected from both parents and adoptees. We found that gross motor delay at arrival predicted academic performance (parent-report: b = -.34, p < .01) and internalizing problems (self-report: b = .26, p < .05; parent-report: b = .33, p < .01). Other delays were not significant in predicting any of the outcomes. The impact of early nutritional deprivation on gross motor development was discussed.

  20. Determinants of developmental delay in infants aged 12 months.

    Science.gov (United States)

    Slykerman, Rebecca F; Thompson, John M D; Clark, Phillipa M; Becroft, David M O; Robinson, Elizabeth; Pryor, Jan E; Wild, Chris J; Mitchell, Edwin A

    2007-03-01

    The aim of this study was to determine which demographic, maternal, obstetric and postnatal variables were associated with achievement of developmental milestones at the age of 12 months in term infants. Mothers and babies were enrolled in the Auckland Birthweight Collaborative Study shortly after birth. All infants were full term (gestation >or= 37 weeks). Approximately half of the sample were small for gestational age (SGA = birthweight 10th percentile). A maternal interview was conducted soon after birth. Phase 2 of the study occurred 12 months later when mothers were sent a postal questionnaire requesting information about the child's health and development during the first year of life using the Denver Prescreening Developmental Questionnaire. Seven hundred and forty-four (85.4%) European mothers returned the postal questionnaire. SGA children were not at increased risk of developmental delay at 12 months of age. In a sample representative of New Zealand European children, after adjustment for the effects of potential confounders, maternal smoking during pregnancy (OR = 2.1 [95% CI 1.1, 4.0]), maternal smoking during the first year of life (OR = 1.9 [95% CI 1.0, 3.8]) and low levels of satisfaction with parenting (OR = 2.4 [95% CI 1.1, 5.2]) were associated with significantly increased risk of developmental delay. In the subgroup of SGA children, maternal smoking during pregnancy (OR = 2.9 [95% CI 1.4, 6.2]), high levels of stress associated with parenting (OR = 2.2 [95% CI 1.2, 4.0]), and low levels of satisfaction with parenting (OR = 4.3 [95% CI 1.3, 13.5]) were significantly associated with developmental delay after adjustment for the effects of potential confounders. In conclusion, maternal and postnatal factors were better predictors of developmental delay than demographic variables.

  1. Genetics and the investigation of developmental delay/intellectual disability.

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    Srour, Myriam; Shevell, Michael

    2014-04-01

    Global developmental delay and intellectual disabilities are common reasons for diagnostic assessment by paediatricians. There are a multiplicity of possible causes many of which have genetic, management and treatment implications for the child and family. Genetic causes are estimated to be responsible for approximately a quarter to one-half of identified cases. The multiplicity of individually rare genetic causes challenges the practitioner with respect to the selection of diagnostic tests and accurate diagnosis. To assist the practitioner practice guidelines have been formulated and these are reviewed and summarised in this particular article.

  2. The relationship of early communication concerns to developmental delay and symptoms of autism spectrum disorders.

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    Turygin, Nicole; Matson, Johnny L; Konst, Matthew; Williams, Lindsey

    2013-08-01

    Parental concerns related to communication are an oft-cited reason that children present to early intervention clinics. We examine the relationship between early communication first concerns (FCs) and symptoms of ASD. The present study included 3173 toddlers at risk for developmental delay. The Battelle Developmental Inventory, 2nd edition and the Baby and Infant Screen for Children with aUtIsm Traits (BISCUIT) were used to examine developmental quotient scores and autism symptoms. Significant results were observed with respect to FC group and gender. A significant effect of FC-Communication group was observed with respect to developmental quotient overall and subscale scores, as well as autism symptom scores. Those with communication disorders are a heterogeneous population and do not account for all children who will meet criteria for a diagnosis of an ASD.

  3. Oral Health Characteristics and Dental Rehabilitation of Children with Global Developmental Delay

    Directory of Open Access Journals (Sweden)

    Saurabh Kumar

    2017-01-01

    Full Text Available Global developmental delay (GDD is a chronic neurological disturbance which includes defects in one or more developmental domains. The developmental domain can be motor, cognitive, daily activities, speech or language, and social or personal development. The etiology for GDD can be prenatal, perinatal, or postnatal. It can be diagnosed early in childhood as the delay or absence of one or more developmental milestones. Hence the role of pedodontist and pediatricians becomes more crucial in identifying this condition. The diagnosis of GDD requires a detailed history including family history and environmental risk factors followed by physical and neurological examinations. Investigations for GDD include diagnostic laboratory tests, brain imaging, and other evidence-based evaluations. GDD affects multiple developmental domains that not only have direct bearing on maintenance of oral health, but also require additional behavior management techniques to deliver optimal dental care. This paper describes two different spectra of children with GDD. Since the severity of GDD can vary, this paper also discusses the different behavior management techniques that were applied to provide dental treatment in such children.

  4. Menstrual suppression with the levonorgestrel intrauterine system in girls with developmental delay.

    Science.gov (United States)

    Hillard, Paula J Adams

    2012-10-01

    To describe the experiences of 21 girls with developmental delay accompanied by multiple other medical problems, seen over a 3-year interval, who underwent insertion of the levonorgestrel intrauterine system (LNG-IUS) for menstrual suppression. Retrospective chart review. A referral pediatric and adolescent gynecology clinic within a tertiary care medical center with referrals from community pediatricians, pediatric subspecialists including developmental and behavioral pediatricians, community gynecologists, and adolescent medicine specialists. Adolescents and young women with developmental delay and multiple comorbid conditions who were seen for consultation with their families requesting menstrual suppression. Participants were offered hormonal options, for menstrual suppression including the LNG-IUS. Satisfaction with menstrual suppression among families electing the LNG-IUS. Adolescents and young women seen at CCHMC with developmental delay and multiple comorbid conditions with requests for menstrual suppression were offered hormonal options, including the LNG-IUS. Twenty-one families chose this option. Fifteen of 21 girls had previously used hormonal menstrual suppression. General anesthesia was required for 20 of 21 insertions, and 9 of 20 of these insertions were combined with other surgical procedures. There were no unsuccessful insertions or major complications. Mean duration of follow-up was 11 months, and families were satisfied with this option for menstrual suppression. There was 1 request for removal. LNG-IUS for menstrual suppression, in girls with developmental delay and multiple comorbid medical conditions for which amenorrhea is desirable and therapeutic, appears promising. Copyright © 2012 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  5. Magnetic Resonance Imaging (MRI) Evaluation of Developmental Delay in Pediatric Patients

    OpenAIRE

    Ali, Althaf S.; Syed, Naziya P.; Murthy, G.S.N.; Nori, Madhavi; Abkari, Anand; Pooja, B.K.; Venkateswarlu, J.

    2015-01-01

    Introduction: Developmental delay is defined as significant delay in one or more developmental domains. Magnetic Resonance Imaging (MRI) is the best modality to investigate such patients. Evaluation of a child with developmental delay is important not only because it allows early diagnosis and treatment but also helpful for parental counseling regarding the outcome of their child and to identify any possible risk of recurrence in the siblings. Thus this study was undertaken to evaluate the de...

  6. Unraveling the "new morbidity": adolescent parenting and developmental delays.

    Science.gov (United States)

    Borkowski, J G; Whitman, T L; Passino, A W; Rellinger, E A; Sommer, K; Keogh, D

    1992-01-01

    Baumeister's concept of the "new morbidity" pertains to the linkages between poverty, adolescent mothers, and a series of developmental delays in their children. Outlined are three possible causes of the mild mental retardation and learning disabilities that are found disproportionately among the offspring of adolescents. First, there may be a direct genetic transmission of mild mental retardation. Second, adolescent mothers are likely to have a lack of support from a social network, be unprepared cognitively and emotionally to assume responsibility for child rearing, and to look to an infant to meet their own needs. Third, the interaction of genetic and environmental deficits leads to a parenting style that deprives the child of stimulation that could potentially overcome these deficits. A secure mother-infant attachment relationship provides the foundation for the development of social, emotional, attentional, and self-regulatory processes. When this attachment relationship is insecure, as a result of the mother's unreadiness to parent, the child cannot proceed to exploration of the environment--a critical component of cognitive development. If the infant has a difficult temperament, the risk of physical and emotional abuse increases, further compromising the child's future development. By 3 years of age, many of these children are showing declines in mental functioning, delays in receptive language skills, and poor motor and social skills. Research is urged to identify events in this chain that can be targeted for early intervention.

  7. Relation of polymorphism of arsenic metabolism genes to arsenic methylation capacity and developmental delay in preschool children in Taiwan.

    Science.gov (United States)

    Hsieh, Ru-Lan; Su, Chien-Tien; Shiue, Horng-Sheng; Chen, Wei-Jen; Huang, Shiau-Rung; Lin, Ying-Chin; Lin, Ming-I; Mu, Shu-Chi; Chen, Ray-Jade; Hsueh, Yu-Mei

    2017-04-15

    Inefficient arsenic methylation capacity has been associated with developmental delay in children. The present study was designed to explore whether polymorphisms and haplotypes of arsenic methyltransferase (AS3MT), glutathione-S-transferase omegas (GSTOs), and purine nucleoside phosphorylase (PNP) affect arsenic methylation capacity and developmental delay. A case-control study was conducted from August 2010 to March 2014. All participants were recruited from the Shin Kong Wu Ho-Su Memorial Teaching Hospital. In total, 179 children with developmental delay and 88 children without delay were recruited. Urinary arsenic species, including arsenite (As III ), arsenate (As V ), monomethylarsonic acid (MMA V ), and dimethylarsinic acid (DMA V ) were measured using a high-performance liquid chromatography-linked hydride generator and atomic absorption spectrometry. The polymorphisms of AS3MT, GSTO, and PNP were performed using the Sequenom MassARRAY platform with iPLEX Gold chemistry. Polymorphisms of AS3MT genes were found to affect susceptibility to developmental delay in children, but GSTO and PNP polymorphisms were not. Participants with AS3MT rs3740392 A/G+G/G genotype, compared with AS3MT rs3740392 A/A genotype, had a significantly lower secondary methylation index. This may result in an increased OR for developmental delay. Participants with the AS3MT high-risk haplotype had a significantly higher OR than those with AS3MT low-risk haplotypes [OR and 95% CI, 1.59 (1.08-2.34)]. This is the first study to show a joint dose-response effect of this AS3MT high-risk haplotype and inefficient arsenic methylation capacity on developmental delay. Our data provide evidence that AS3MT genes are related to developmental delay and may partially influence arsenic methylation capacity. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features

    NARCIS (Netherlands)

    Steinfeld, Hallie; Cho, Megan T.; Retterer, Kyle; Person, Rick; Schaefer, G. Bradley; Danylchuk, Noelle; Malik, Saleem; Wechsler, Stephanie Burns; Wheeler, Patricia G.; van Gassen, Koen L I; Terhal, P. A.; Verhoeven, Virginie J M; van Slegtenhorst, Marjon A.; Monaghan, Kristin G.; Henderson, Lindsay B.; Chung, Wendy K.

    Human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2) has been previously associated with intellectual disability and developmental delay in three patients. Here, we describe six patients with developmental delay, intellectual disability, and dysmorphic features with de novo likely

  9. Sleep Problems and Early Developmental Delay: Implications for Early Intervention Programs

    Science.gov (United States)

    Bonuck, Karen; Grant, Roy

    2012-01-01

    Sleep disorders negatively impact behavior, cognition, and growth--the same areas targeted by early intervention. Conversely, developmental delays and disabilities may themselves precipitate sleep disorders. Young children with developmental delays experience sleep disorders at a higher rate than do typically developing children; the most common…

  10. Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features

    NARCIS (Netherlands)

    H. Steinfeld (Hallie); M.T. Cho (Megan T.); K. Retterer (Kyle); R. Person (Rick); G.B. Schaefer (G. Bradley); N. Danylchuk (Noelle); S. Malik (Saleem); S.B. Wechsler (Stephanie Burns); P.G. Wheeler (Patricia G.); K.L.I. van Gassen (Koen L.I.); P. Terhal (Paulien); V.J.M. Verhoeven (Virginie); M.A. van Slegtenhorst (Marjon); K.G. Monaghan (Kristin G.); L.B. Henderson (Lindsay B.); W. Chung (Wendy)

    2016-01-01

    textabstractHuman immunodeficiency virus type I enhancer binding protein 2 (HIVEP2) has been previously associated with intellectual disability and developmental delay in three patients. Here, we describe six patients with developmental delay, intellectual disability, and dysmorphic features with de

  11. An operant procedure for improving vocabulary definition performances in developmentally delayed children.

    Science.gov (United States)

    Cottrell, A W; Montague, J; Farb, J; Throne, J M

    1980-02-01

    This report describes a training program in which operant procedures were used to improve the identification and definition of selected vocabulary words in three developmentally delayed children. Generalization from the training words was well established, as determined by responses to untrained vocabulary performance words. The results of this procedure suggest its application with other developmentally delayed children.

  12. Evaluating pain induced by venipuncture in pediatric patients with developmental delay.

    Science.gov (United States)

    Benini, Franca; Trapanotto, Manuela; Gobber, Daniela; Agosto, Caterina; Carli, Giovanna; Drigo, Paola; Eland, Jo; Zacchello, Franco

    2004-01-01

    Little attention has been paid to the assessment of pain in children with developmental delay. The aim of this study was to explore several methods for assessing pain during venipuncture in this population of children, using classic and modified scales to evaluate the children's response to simplified tools. Sixteen children with mild or moderate developmental delay were evaluated using three standard self-rating scales (Visual Analog Scale [VAS], Eland Scale, and Faces Scale) and three modified methods (Cube Test, Modified Eland Scale, and Modified Faces Scale), recording subjective self-ratings and behavioral expressions of pain during a venipuncture procedure, apart from the initial fear. The children's pain and reaction time were assessed by an outside observer, while their pain and fear were also evaluated by the parents. The VAS was used without difficulty by all the children and revealed a good consistency with the Cube Test. The parents' and neutral observer's indirect pain assessment was also consistent with the child's evaluations. The Eland Scale proved difficult to use, especially for Down's syndrome children, while its modified version was easier. Results emerging from the original and modified Faces Scales were inconsistent. Frightened children attributed higher pain scores, demonstrating that negative emotions exacerbate the experience of pain in developmentally delayed children. The patients showed a limited capacity for verbal and behavioral expression in reaction to the painful stimulus (especially the Down's cases). These findings support the conviction that even developmentally delayed children can use self-rating methods effectively. This sector demands further, more extensive study, including the development of simplified tools, to ensure an adequate pain assessment and optimal antalgic approach to this particular pediatric population.

  13. The Association between EEG Abnormality and Behavioral Disorder: Developmental Delay in Phenylketonuria.

    Science.gov (United States)

    Karimzadeh, Parvaneh; Alaee, Mohammad Reza; Zarafshan, Hadi

    2012-01-01

    Background. Brain defect leading to developmental delay is one of the clinical manifestations of phenylketonuria. The aim of this study was to evaluate the association between EEG abnormality and developmental delay/behavioral disorders in phenylketonuria. Patients and Methods. 105 phenylketonuria patients, who were diagnosed through newborn screening tests or during follow-up evaluation, were enrolled. Patients who were seizure-free for at least six months before the study were included. The developmental score were evaluated by the ASQ questionnaire (age-stage questionnaire) and the test of child symptom inventory-4 (CSI-4), respectively. Results. 55 patients had a history of seizure more than 6 months before the study. Seventy had abnormal EEG (cases) and 35 had normal EEG (controls). There was no significant difference between mean phenylalanine levels in the abnormal and normal EEG groups at the time of diagnosis, after six months and at our evaluation. Distribution of DQ level in the abnormal and normal EEG groups revealed a significant difference. An abnormal EEG was associated with a higher percentage of low DQ levels. Conclusion. Paroxysmal epileptic discharges in PKU patients are important. Treatment of these EEG abnormalities may affect developmental scores or may lead to correction of some behavioral disorders in patients.

  14. Relation of polymorphism of arsenic metabolism genes to arsenic methylation capacity and developmental delay in preschool children in Taiwan

    International Nuclear Information System (INIS)

    Hsieh, Ru-Lan; Su, Chien-Tien; Shiue, Horng-Sheng; Chen, Wei-Jen; Huang, Shiau-Rung; Lin, Ying-Chin; Lin, Ming-I; Mu, Shu-Chi; Chen, Ray-Jade; Hsueh, Yu-Mei

    2017-01-01

    Inefficient arsenic methylation capacity has been associated with developmental delay in children. The present study was designed to explore whether polymorphisms and haplotypes of arsenic methyltransferase (AS3MT), glutathione-S-transferase omegas (GSTOs), and purine nucleoside phosphorylase (PNP) affect arsenic methylation capacity and developmental delay. A case-control study was conducted from August 2010 to March 2014. All participants were recruited from the Shin Kong Wu Ho-Su Memorial Teaching Hospital. In total, 179 children with developmental delay and 88 children without delay were recruited. Urinary arsenic species, including arsenite (As III ), arsenate (As V ), monomethylarsonic acid (MMA V ), and dimethylarsinic acid (DMA V ) were measured using a high-performance liquid chromatography-linked hydride generator and atomic absorption spectrometry. The polymorphisms of AS3MT, GSTO, and PNP were performed using the Sequenom MassARRAY platform with iPLEX Gold chemistry. Polymorphisms of AS3MT genes were found to affect susceptibility to developmental delay in children, but GSTO and PNP polymorphisms were not. Participants with AS3MT rs3740392 A/G + G/G genotype, compared with AS3MT rs3740392 A/A genotype, had a significantly lower secondary methylation index. This may result in an increased OR for developmental delay. Participants with the AS3MT high-risk haplotype had a significantly higher OR than those with AS3MT low-risk haplotypes [OR and 95% CI, 1.59 (1.08–2.34)]. This is the first study to show a joint dose-response effect of this AS3MT high-risk haplotype and inefficient arsenic methylation capacity on developmental delay. Our data provide evidence that AS3MT genes are related to developmental delay and may partially influence arsenic methylation capacity. - Highlights: • AS3MT genotypes were found to affect susceptibility to developmental delay. • AS3MT rs3740392 A/G and G/G genotype had a significantly low SMI (DMA/MMA) index. • AS3MT

  15. Visual abilities in students with severe developmental delay

    DEFF Research Database (Denmark)

    Welinder, Lotte G; Baggesen, Kirsten L

    for vision. All students with visual acuities ≤6/12 were refractioned and examined by an ophthalmologist. Results:  Of 502 students, 56 (11%) had visual impairment (VI) [visual acuity (VA) ≤ 6/18], of which 21 had been previously undiagnosed. Legal blindness was found in 15 students (3%), of whom three had......Purpose:  To investigate the visual abilities of students with severe developmental delay (DD) age 6-8 starting in special needs education. Methods:  Between 1 January 2000 and 31 December 2008, we screened all students with severe DD starting in special needs schools in Northern Jutland, Denmark...... previously been undiagnosed. Students tested with preferential looking systems (N = 78) had significantly lower visual acuities [VA (decimal) = 0.55] than students tested with ortho types [VA (decimal) = 0.91] and had problems participating in the colour and form tests, possibly due to cerebral VI...

  16. Iron deficiency in children with global developmental delay and autism spectrum disorder.

    Science.gov (United States)

    Sidrak, Samuel; Yoong, Terence; Woolfenden, Susan

    2014-05-01

    To investigate the prevalence of and risk factors for iron deficiency in children with global developmental delay and/or autism spectrum disorder (ASD). A retrospective review was conducted of the files of children referred to community paediatric clinics in South West Sydney from May 2009 to July 2011 who were diagnosed with global developmental delay and/or ASD. Data were extracted on iron studies and potential risk factors. Data were analysed using Pearson's ÷(2) -test and Fisher's exact test. Subjects included 122 children. The prevalence of iron depletion was 2.5% (95% CI 0.5-7.0%); that of iron deficiency was 6.6% (95% CI 2.9-12.5%), and that of iron deficiency anaemia was 4.1% (95% CI 1.3-9.3%). In children with global developmental delay without ASD, the prevalence of iron depletion was 1.8% (95% CI 0-9.7%), that of iron deficiency 5.5% (95% CI 1.1-15.1%) and that of iron deficiency anaemia 5.5% (95% CI 1.1-15.1%). In children with ASD with or without global developmental delay, the prevalence of iron depletion was 3.0% (95% CI 0.4-10.4%), that of iron deficiency 7.5% (95% CI 2.5-16.6%) and that of iron deficiency anaemia 3.0% (95% CI 0.4-10.4%). Univariate analysis demonstrated three significant potential risk factors for iron depletion, iron deficiency and iron deficiency anaemia: problems sucking, swallowing or chewing (P = 0.002); poor eating behaviour (P = 0.008); and inadequate amounts of meat, chicken, eggs or fish (P = 0.002). Iron deficiency and iron deficiency anaemia were more common in this clinical sample of children with global developmental delay and/or ASD than in the general population. © 2013 The Authors. Journal of Paediatrics and Child Health © 2013 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  17. Preeclampsia, placental insufficiency, and autism spectrum disorder or developmental delay.

    Science.gov (United States)

    Walker, Cheryl K; Krakowiak, Paula; Baker, Alice; Hansen, Robin L; Ozonoff, Sally; Hertz-Picciotto, Irva

    2015-02-01

    Increasing evidence suggests that autism spectrum disorder (ASD) and many forms of developmental delay (DD) originate during fetal development. Preeclampsia may trigger aberrant neurodevelopment through placental, maternal, and fetal physiologic mechanisms. To determine whether preeclampsia is associated with ASD and/or DD. The Childhood Autism Risks from Genetics and the Environment (CHARGE) study is a population-based, case-control investigation of ASD and/or DD origins. Children from 20 California counties aged 24 to 60 months at the time of recruitment and living in catchment areas with a biological parent fluent in English or Spanish were enrolled from January 29, 2003, through April 7, 2011. Children with ASD (n = 517) and DD (n = 194) were recruited through the California Department of Developmental Services, the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, and referrals. Controls with typical development (TD) (n = 350) were randomly selected from birth records and frequency matched on age, sex, and broad geographic region. Physicians diagnosing preeclampsia were masked to neurodevelopmental outcome, and those assessing neurodevelopmental function were masked to preeclampsia status. Preeclampsia and placental insufficiency were self-reported and abstracted from medical records. The Autism Diagnostic Observation Schedule and Autism Diagnostic Interview-Revised were used to confirm ASD, whereas children with DD and TD were confirmed by Mullen Scales of Early Learning and Vineland Adaptive Behavior Scales and were free of autistic symptoms. Hypotheses were formulated before data collection. Children with ASD were twice as likely to have been exposed in utero to preeclampsia as controls with TD after adjustment for maternal educational level, parity, and prepregnancy obesity (adjusted odds ratio, 2.36; 95% CI, 1.18-4.68); risk increased with greater preeclampsia severity (test for trend, P = .02). Placental

  18. Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.

    Science.gov (United States)

    Steinfeld, Hallie; Cho, Megan T; Retterer, Kyle; Person, Rick; Schaefer, G Bradley; Danylchuk, Noelle; Malik, Saleem; Wechsler, Stephanie Burns; Wheeler, Patricia G; van Gassen, Koen L I; Terhal, P A; Verhoeven, Virginie J M; van Slegtenhorst, Marjon A; Monaghan, Kristin G; Henderson, Lindsay B; Chung, Wendy K

    2016-07-01

    Human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2) has been previously associated with intellectual disability and developmental delay in three patients. Here, we describe six patients with developmental delay, intellectual disability, and dysmorphic features with de novo likely gene-damaging variants in HIVEP2 identified by whole-exome sequencing (WES). HIVEP2 encodes a large transcription factor that regulates various neurodevelopmental pathways. Our findings provide further evidence that pathogenic variants in HIVEP2 lead to intellectual disabilities and developmental delay.

  19. [Diagnostic evaluation of the developmental level in children identified at risk of delay through the Child Development Evaluation Test].

    Science.gov (United States)

    Rizzoli-Córdoba, Antonio; Campos-Maldonado, Martha Carmen; Vélez-Andrade, Víctor Hugo; Delgado-Ginebra, Ismael; Baqueiro-Hernández, César Iván; Villasís-Keever, Miguel Ángel; Reyes-Morales, Hortensia; Ojeda-Lara, Lucía; Davis-Martínez, Erika Berenice; O'Shea-Cuevas, Gabriel; Aceves-Villagrán, Daniel; Carrasco-Mendoza, Joaquín; Villagrán-Muñoz, Víctor Manuel; Halley-Castillo, Elizabeth; Sidonio-Aguayo, Beatriz; Palma-Tavera, Josuha Alexander; Muñoz-Hernández, Onofre

    The Child Development Evaluation (or CDE Test) was developed in Mexico as a screening tool for child developmental problems. It yields three possible results: normal, slow development or risk of delay. The modified version was elaborated using the information obtained during the validation study but its properties according to the base population are not known. The objective of this work was to establish diagnostic confirmation of developmental delay in children 16- to 59-months of age previously identified as having risk of delay through the CDE Test in primary care facilities. A population-based cross-sectional study was conducted in one Mexican state. CDE test was administered to 11,455 children 16- to 59-months of age from December/2013 to March/2014. The eligible population represented the 6.2% of the children (n=714) who were identified at risk of delay through the CDE Test. For inclusion in the study, a block randomization stratified by sex and age group was performed. Each participant included in the study had a diagnostic evaluation using the Battelle Development Inventory, 2 nd edition. From the 355 participants included with risk of delay, 65.9% were male and 80.2% were from rural areas; 6.5% were false positives (Total Development Quotient ˃90) and 6.8% did not have any domain with delay (Domain Developmental Quotient motor 55.5%; and adaptive 41.7%. There were significant differences in the percentages of delay both by age and by domain/subdomain evaluated. In 93.2% of the participants, developmental delay was corroborated in at least one domain evaluated. Copyright © 2015 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  20. A Longitudinal Examination of Father Involvement with Children with Developmental Delays: Does Timing of Diagnosis Matter?

    Science.gov (United States)

    Dyer, W. Justin; McBride, Brent A.; Jeans, Laurie M.

    2009-01-01

    With a representative sample of U.S. children born in 2001, growth curve modeling was used to investigate the association between father-child involvement and the developmental status of the child. Three groups of children, which varied by timing of developmental delay diagnosis, were compared for father involvement trajectories. These groups of…

  1. Genetic testing in patients with global developmental delay / intellectual disabilities. A review

    OpenAIRE

    MICLEA, DIANA; PECA, LOREDANA; CUZMICI, ZINA; POP, IOAN VICTOR

    2015-01-01

    Genetic factors are responsible for up to 40% developmental disability cases, such as global developmental delay/intellectual disability (GDD/DI). The American and more recently the European guidelines on this group of diseases state that genetic testing is essential and should become a standardized diagnostic practice. The main arguments for the necessity of implementing such a practice are: (1) the high prevalence of developmental disabilities (3% of the population); (2) the high genetic co...

  2. CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

    Science.gov (United States)

    2014-01-01

    Background The chromodomain helicase DNA binding domain (CHD) proteins modulate gene expression via their ability to remodel chromatin structure and influence histone acetylation. Recent studies have shown that CHD2 protein plays a critical role in embryonic development, tumor suppression and survival. Like other genes encoding members of the CHD family, pathogenic mutations in the CHD2 gene are expected to be implicated in human disease. In fact, there is emerging evidence suggesting that CHD2 might contribute to a broad spectrum of neurodevelopmental disorders. Despite growing evidence, a description of the full phenotypic spectrum of this condition is lacking. Methods We conducted a multicentre study to identify and characterise the clinical features associated with haploinsufficiency of CHD2. Patients with deletions of this gene were identified from among broadly ascertained clinical cohorts undergoing genomic microarray analysis for developmental delay, congenital anomalies and/or autism spectrum disorder. Results Detailed clinical assessments by clinical geneticists showed recurrent clinical symptoms, including developmental delay, intellectual disability, epilepsy, behavioural problems and autism-like features without characteristic facial gestalt or brain malformations observed on magnetic resonance imaging scans. Parental analysis showed that the deletions affecting CHD2 were de novo in all four patients, and analysis of high-resolution microarray data derived from 26,826 unaffected controls showed no deletions of this gene. Conclusions The results of this study, in addition to our review of the literature, support a causative role of CHD2 haploinsufficiency in developmental delay, intellectual disability, epilepsy and behavioural problems, with phenotypic variability between individuals. PMID:24834135

  3. Array CGH Analysis and Developmental Delay: A Diagnostic Tool for Neurologists.

    Science.gov (United States)

    Cameron, F; Xu, J; Jung, J; Prasad, C

    2013-11-01

    Developmental delay occurs in 1-3% of the population, with unknown etiology in approximately 50% of cases. Initial genetic work up for developmental delay previously included chromosome analysis and subtelomeric FISH (fluorescent in situ hybridization). Array Comparative Genomic Hybridization (aCGH) has emerged as a tool to detect genetic copy number changes and uniparental disomy and is the most sensitive test in providing etiological diagnosis in developmental delay. aCGH allows for the provision of prognosis and recurrence risks, improves access to resources, helps limit further investigations and may alter medical management in many cases. aCGH has led to the delineation of novel genetic syndromes associated with developmental delay. An illustrative case of a 31-year-old man with long standing global developmental delay and recently diagnosed 4q21 deletion syndrome with a deletion of 20.8 Mb genomic interval is provided. aCGH is now recommended as a first line test in children and adults with undiagnosed developmental delay and congenital anomalies. Puce d'hybridation génomique comparative et retard de développement : un outil diagnostic pour les neurologues. Le retard de développement survient chez 1 à 3% de la population et son étiologie est inconnue chez à peu près 50% des cas. L'évaluation génétique initiale pour un retard de développement incluait antérieurement une analyse chromosomique et une analyse par FISH (hybridation in situ en fluorescence) de régions subtélomériques. La puce d'hybridation génomique comparative (CGHa) est devenue un outil de détection des changements du nombre de copies géniques ainsi que de la disomie uniparentale et elle est le test le plus sensible pour fournir un diagnostic étiologique dans le retard de développement. Le CGHa permet d'offrir un pronostic et un risque de récurrence, améliore l'accès aux ressources, aide à limiter les évaluations et peut modifier le traitement médical dans bien des cas

  4. Discrimination Acquisition in Children with Developmental Disabilities under Immediate and Delayed Reinforcement

    Science.gov (United States)

    Sy, Jolene R.; Vollmer, Timothy R.

    2012-01-01

    We evaluated the discrimination acquisition of individuals with developmental disabilities under immediate and delayed reinforcement. In Experiment 1, discrimination between two alternatives was examined when reinforcement was immediate or delayed by 20 s, 30 s, or 40 s. In Experiment 2, discrimination between 2 alternatives was compared across an…

  5. Parent-Implemented Language Interventions for Children with a Developmental Delay: A Systematic Review

    NARCIS (Netherlands)

    van den Os, D.; Jongmans, M.J.; Volman, M.J.M.; Lauteslager, P.

    2017-01-01

    Young children with a developmental delay (DD) show significant delays in communication and language development. Although several parent-implemented language intervention programs have been developed to facilitate the communication and language abilities of children with a DD, no systematic review

  6. The social context of parenting 3-year-old children with developmental delay in the UK.

    Science.gov (United States)

    Emerson, E; Graham, H; McCulloch, A; Blacher, J; Hatton, C; Llewellyn, G

    2009-01-01

    Children with intellectual or developmental disability have significantly poorer health and mental health than their non-disabled peers and are at high risk of social exclusion. The aim of the present paper is to provide information on the circumstances in which 3-year-old children at risk of intellectual or developmental disability are growing up in the UK. Secondary analysis of data on 12 689 families in English-speaking monolingual households from the first two waves of the UK's Millennium Cohort Study. A total of 440 children (3% of the weighted sample) were identified as being developmentally delayed. When compared with other children, children with developmental delays were more disadvantaged on every indicator of social and economic disadvantage examined. Two out of three children with developmental delays had been exposed to repeated disadvantage as measured by income poverty, material hardship, social housing and receipt of means-tested benefits. The effect of repeated disadvantage on the risk of developmental delay remained after account was taken of parental education and occupational status. Young children with delayed development in the UK are likely to be exposed to repeated socio-economic disadvantage. Implications for policy and understanding the nature of the link between poverty and child disability are discussed.

  7. Adaptive Function in Preschoolers in Relation to Developmental Delay and Diagnosis of Autism Spectrum Disorders: Insights from a Clinical Sample

    Science.gov (United States)

    Milne, Susan L.; McDonald, Jenny L.; Comino, Elizabeth J.

    2013-01-01

    This study aims to explore the relationship between developmental ability, autism and adaptive skills in preschoolers. Adaptive function was assessed in 152 preschoolers with autism, with and without developmental delay, and without autism, with and without developmental delay. Their overall adaptive function, measured by the general adaptive…

  8. Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.

    Science.gov (United States)

    Manoli, Irini; Golas, Gretchen; Westbroek, Wendy; Vilboux, Thierry; Markello, Thomas C; Introne, Wendy; Maynard, Dawn; Pederson, Ben; Tsilou, Ekaterini; Jordan, Michael B; Hart, P Suzanne; White, James G; Gahl, William A; Huizing, Marjan

    2010-06-01

    Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease characterized by variable oculocutaneous albinism, immunodeficiency, mild bleeding diathesis, and an accelerated lymphoproliferative state. Abnormal lysosome-related organelle membrane function leads to the accumulation of large intracellular vesicles in several cell types, including granulocytes, melanocytes, and platelets. This report describes a severe case of CHS resulting from paternal heterodisomy of chromosome 1, causing homozygosity for the most distal nonsense mutation (p.E3668X, exon 50) reported to date in the LYST/CHS1 gene. The mutation is located in the WD40 region of the CHS1 protein. The patient's fibroblasts expressed no detectable CHS1. Besides manifesting the classical CHS findings, the patient exhibited hypotonia and global developmental delays, raising concerns about other effects of heterodisomy. An interstitial 747 kb duplication on 6q14.2-6q14.3 was identified in the propositus and paternal samples by comparative genomic hybridization. SNP genotyping revealed no additional whole chromosome or segmental isodisomic regions or other dosage variations near the crossover breakpoints on chromosome 1. Unmasking of a separate autosomal recessive cause of developmental delay, or an additive effect of the paternal heterodisomy, could underlie the severity of the phenotype in this patient. Published 2010 Wiley-Liss, Inc.

  9. Youth Assets and Delayed Coitarche across Developmental Age Groups

    Science.gov (United States)

    Aspy, Cheryl B.; Vesely, Sara K.; Tolma, Eleni L.; Oman, Roy F.; Rodine, Sharon; Marshall, LaDonna; Fluhr, Janene

    2010-01-01

    Cross-sectional studies suggest that assets are associated with youth abstinence, but whether these relationships are constant across developmental age groups has not been shown. Data for this study were obtained from two independent datasets collected across a 2-year period using in-person, in-home interviews of youth (52% female; 44% Caucasian,…

  10. Magnetic resonance imaging (MRI) evaluation of developmental delay in pediatric patients.

    Science.gov (United States)

    Ali, Althaf S; Syed, Naziya P; Murthy, G S N; Nori, Madhavi; Abkari, Anand; Pooja, B K; Venkateswarlu, J

    2015-01-01

    Developmental delay is defined as significant delay in one or more developmental domains. Magnetic Resonance Imaging (MRI) is the best modality to investigate such patients. Evaluation of a child with developmental delay is important not only because it allows early diagnosis and treatment but also helpful for parental counseling regarding the outcome of their child and to identify any possible risk of recurrence in the siblings. Thus this study was undertaken to evaluate the developmental delay in Indian children which will help the clinicians in providing an estimation of the child's ultimate developmental potential and organize specific treatment requirement and also relieve parental apprehension. To study the prevalence of normal and abnormal MRI in pediatric patients presenting with developmental delay and further categorize the abnormal MRI based on its morphological features. It is a prospective, observational & descriptive study of MRI Brain in 81 paediatric patients (46 Males and 35 Females), aged between three months to 12 years; presenting with developmental delay in Deccan College of Medical Sciences, Hyderabad; over a period of three years (Sept 2011 to Sept 2014). MRI brain was done on 1.5T Siemens Magnetom Essenza & 0.35T Magnetom C with appropriate sequences and planes after making the child sleep/sedated/ anesthetized. Various anatomical structures like Ventricles, Corpus callosum, etc were systematically assessed. The MRI findings were divided into various aetiological subgroups. Normal MRI findings were seen in 32% cases and 68% had abnormal findings of which the proportion of Traumatic/ Neurovascular Diseases, Congenital & Developmental, Metabolic and Degenerative, neoplastic and non specific were 31%, 17%, 10%, 2.5% and 7.5% respectively. The ventricles and white matter mainly the corpus callosum were the most commonly affected anatomical structures. The diagnostic yield was found to be 68% and higher yield was seen in patients presenting with

  11. Correlation between high-risk pregnancy and developmental delay in children aged 4–60 months

    Directory of Open Access Journals (Sweden)

    Saba Amiri

    2012-09-01

    Full Text Available Background: The future development of children is considered more than ever now due to the advances in medical knowledge and thus the increase in survival rates of high-risk infants. This study investigated the correlation between high-risk pregnancy and developmental delay in children aged 4–60 months. Methods: This descriptive study was conducted on 401 mothers and their children (4–60 months who visited health service centers affiliated to Isfahan University of Medical Sciences, Iran, in 2011. Sampling was carried out in several stages, and the Ages and Stage Questionnaire was completed by the participants. Data were analyzed with SPSS 18 software and independent t-test; Mann-Whitney and logistic-regression tests were used. Results: The average age of children in the low-risk pregnancy group was 22±16 months, and that in the high-risk pregnancy group was 18.9±14.8 months. The majority of children were female (53.1%. The prevalence of high-risk pregnancies was 80.5%, and the prevalence of developmental delay was 18.7%. Multiple pregnancies, low birth weight, habitual abortions, maternal medical disorders in pregnancy, and gestational diabetes had significant correlations with developmental delay in children (P<0.04. In the logistic model, male gender, low birth weight, family marriage, and maternal medical disorders during pregnancy showed significant correlations with developmental delay in children (P<0.05. Additionally, abnormal body mass index (BMI and social and economic status showed probability values close to the significance level (P = 0.05, whereas other high-risk pregnancy variables had no correlation with developmental delay in children. A correlation between high-risk pregnancy and developmental delay (P = 0.002 and fine motor delay was observed (P = 0.02, but no correlation was observed between high-risk pregnancy and other developmental domains. Conclusion: This study showed that some high-risk pregnancy variables had a

  12. Adaptive developmental delay in Chagas disease vectors: an evolutionary ecology approach.

    Directory of Open Access Journals (Sweden)

    Frédéric Menu

    2010-05-01

    Full Text Available The developmental time of vector insects is important in population dynamics, evolutionary biology, epidemiology and in their responses to global climatic change. In the triatomines (Triatominae, Reduviidae, vectors of Chagas disease, evolutionary ecology concepts, which may allow for a better understanding of their biology, have not been applied. Despite delay in the molting in some individuals observed in triatomines, no effort was made to explain this variability.We applied four methods: (1 an e-mail survey sent to 30 researchers with experience in triatomines, (2 a statistical description of the developmental time of eleven triatomine species, (3 a relationship between development time pattern and climatic inter-annual variability, (4 a mathematical optimization model of evolution of developmental delay (diapause.85.6% of responses informed on prolonged developmental times in 5(th instar nymphs, with 20 species identified with remarkable developmental delays. The developmental time analysis showed some degree of bi-modal pattern of the development time of the 5(th instars in nine out of eleven species but no trend between development time pattern and climatic inter-annual variability was observed. Our optimization model predicts that the developmental delays could be due to an adaptive risk-spreading diapause strategy, only if survival throughout the diapause period and the probability of random occurrence of "bad" environmental conditions are sufficiently high.Developmental delay may not be a simple non-adaptive phenotypic plasticity in development time, and could be a form of adaptive diapause associated to a physiological mechanism related to the postponement of the initiation of reproduction, as an adaptation to environmental stochasticity through a spreading of risk (bet-hedging strategy. We identify a series of parameters that can be measured in the field and laboratory to test this hypothesis. The importance of these findings is

  13. Adaptive Developmental Delay in Chagas Disease Vectors: An Evolutionary Ecology Approach

    Science.gov (United States)

    Menu, Frédéric; Ginoux, Marine; Rajon, Etienne; Lazzari, Claudio R.; Rabinovich, Jorge E.

    2010-01-01

    Background The developmental time of vector insects is important in population dynamics, evolutionary biology, epidemiology and in their responses to global climatic change. In the triatomines (Triatominae, Reduviidae), vectors of Chagas disease, evolutionary ecology concepts, which may allow for a better understanding of their biology, have not been applied. Despite delay in the molting in some individuals observed in triatomines, no effort was made to explain this variability. Methodology We applied four methods: (1) an e-mail survey sent to 30 researchers with experience in triatomines, (2) a statistical description of the developmental time of eleven triatomine species, (3) a relationship between development time pattern and climatic inter-annual variability, (4) a mathematical optimization model of evolution of developmental delay (diapause). Principal Findings 85.6% of responses informed on prolonged developmental times in 5th instar nymphs, with 20 species identified with remarkable developmental delays. The developmental time analysis showed some degree of bi-modal pattern of the development time of the 5th instars in nine out of eleven species but no trend between development time pattern and climatic inter-annual variability was observed. Our optimization model predicts that the developmental delays could be due to an adaptive risk-spreading diapause strategy, only if survival throughout the diapause period and the probability of random occurrence of “bad” environmental conditions are sufficiently high. Conclusions/Significance Developmental delay may not be a simple non-adaptive phenotypic plasticity in development time, and could be a form of adaptive diapause associated to a physiological mechanism related to the postponement of the initiation of reproduction, as an adaptation to environmental stochasticity through a spreading of risk (bet-hedging) strategy. We identify a series of parameters that can be measured in the field and laboratory to test

  14. Developmental Delay or Regression in Moral Reasoning by Juvenile Delinquents?

    Science.gov (United States)

    Brugman, Daniel; Aleva, Elisabeth

    2004-01-01

    This study extends research on moral reasoning competence in juvenile delinquents to their practical reasoning and perception of an institutional moral atmosphere in order to find out whether a delay in moral competence is one of the causes of the offence or one of the consequences of institutionalization or both. The study involved 64 delinquent…

  15. Comparative study of occupational performance in children with global developmental delay at 3 and 5 years old

    Directory of Open Access Journals (Sweden)

    Patrícia Isabel Candeias Fernandes

    2016-07-01

    Full Text Available Objectives: This study aims to compare the occupational performance of children with global developmental delay, inserted in SNIPI, and children with typical development, at 3 and 5 years of age, and to verify what functional areas children with global developmental delay feature more difficulties. Method: This is a comparative descriptive study including a sample of 40 participants, and 20 show Typical Development with 20 presenting diagnosis of Global Development Delay. These two groups were divided into two age subgroups of 10 children (aged 3 to 5 years. Results: The Inventory Pediatric Evaluation of Disability was filled out by parents and the results show that occupational performance of children with developmental delay, inserted in SNIPI is lower than those with typical development, with 3 and 5 years old, in the areas personal, mobility and socialization autonomy. Conclusion: The publication of more studies related to the practice of occupational therapy in Portugal is crucial, thus contributing to the knowledge of professionals and students in this scientific area. In addition, more and more evidence-based practice is an approach adopted by health professionals, including occupational therapists, and to this end it is extremely important to carry out newer studies locally in Portugal.

  16. Delayed processing of global shape information in developmental prosopagnosia

    DEFF Research Database (Denmark)

    Gerlach, Christian; Klargaard, Solja K.; Petersen, Anders

    2017-01-01

    There is accumulating evidence suggesting that a central deficit in developmental prosopagnosia (DP), a disorder characterized by profound and lifelong difficulties with face recognition, concerns impaired holistic processing. Some of this evidence comes from studies using Navon’s paradigm where...... that this reduced global precedence effect correlates both with the DPs’ face recognition abilities, as well as their ability to recognize degraded (non-face) objects. We suggest that the DPs’ impaired performance in all three domains (Navon, face and object recognition) may be related to the same dysfunction...

  17. Environmental enrichment decreases asphyxia-induced neurobehavioral developmental delay in neonatal rats.

    Science.gov (United States)

    Kiss, Peter; Vadasz, Gyongyver; Kiss-Illes, Blanka; Horvath, Gabor; Tamas, Andrea; Reglodi, Dora; Koppan, Miklos

    2013-11-13

    Perinatal asphyxia during delivery produces long-term disability and represents a major problem in neonatal and pediatric care. Numerous neuroprotective approaches have been described to decrease the effects of perinatal asphyxia. Enriched environment is a popular strategy to counteract nervous system injuries. The aim of the present study was to investigate whether enriched environment is able to decrease the asphyxia-induced neurobehavioral developmental delay in neonatal rats. Asphyxia was induced in ready-to-deliver mothers by removing the pups by caesarian section after 15 min of asphyxia. Somatic and neurobehavioral development was tested daily and motor coordination weekly. Our results show that rats undergoing perinatal asphyxia had a marked developmental delay and worse performance in motor coordination tests. However, pups kept in enriched environment showed a decrease in the developmental delay observed in control asphyctic pups. Rats growing up in enriched environment did not show decrease in weight gain after the first week and the delay in reflex appearance was not as marked as in control rats. In addition, the development of motor coordination was not as strikingly delayed as in the control group. Short-term neurofunctional outcome are known to correlate with long-term deficits. Our results thus show that enriched environment could be a powerful strategy to decrease the deleterious developmental effects of perinatal asphyxia.

  18. Developmental delay at 12 months in children born extremely preterm

    DEFF Research Database (Denmark)

    Lando, Ane; Klamer, Anja; Jonsbo, Finn

    2005-01-01

    , Copenhagen, were interviewed by telephone when their child was 1 y of age, corrected for preterm birth. A fully structured questionnaire on psychomotor function was used (Revised Prescreening Developmental Questionnaire (R-PDQ)). The parents of 30 children born at term without complications were interviewed......AIM: To evaluate the feasibility and validity of a structured telephone interview to assess the development of children born extremely preterm. METHODS: The parents of 88 children born with a gestational age below 28 wk admitted to the neonatal intensive care unit (NICU) at Rigshospitalet...... to use by staff and well accepted by parents. The mean score in the preterm group was 14.9+/-3.9 vs 17.7+/-2.7 in the term group (pdevelopmental scores below-2 SD. The R-PDQ score was associated with the ASQ score 2 y later. CONCLUSION: A structured questionnaire administrated...

  19. Developmental delay in the Amazon: The social determinants and prevalence among rural communities in Peru.

    Science.gov (United States)

    Westgard, Christopher; Alnasser, Yossef

    2017-01-01

    The consequences of poor child development are becoming increasingly recognized. Programs are being put in place around the world to improve child development by providing healthy and stimulating environments for children. However, these programs often have limited reach and little is known about the prevalence of developmental delay in under-developed communities. The current study set-out to better understand the prevalence of developmental delay in rural communities in the Amazon region of Peru. Also, it explores social determinants that are associated with any delay. Cross-sectional study by evaluating developmental delay in children under 4 years utilizing Ages and Stages Questionnaire (ASQ-3). Additionally, conducting a social determinants questionnaire answered by caretakers to identify social drivers for developmental delay. The data was analyzed with multi-variant analysis to measure association. The prevalence of developmental delay in the Amazonian communities was 26.7% (19.3% in communication, 11.4% in gross motor skills, 8% in both) (N = 596). The multivariate logistic regression analysis revealed significant associations between developmental delay and; level of education (OR 0.64, p = 0.009), age of mother during child's birth (OR 0.96, p = 0.002), visits by community health agents (OR 0.73, p = 0.013), and river as primary water source (OR 2.39, p = 0.001). The social determinants questionnaire revealed that 39% of the mothers had their first child before the age of 17, nearly half stopped going to school before the age of 12 (52%), 29% gave birth at home, 13% breast fed for less than 7 months, and 50% of the children had diarrhea in the last month. There is still a great need to improve the conditions for child development in the Amazon region of Peru. One-fourth of the children suffer from developmental delay, which will likely impede their potentials for life unless something is done. The impact of education, age of mother at birth of the child

  20. Developmental delay in the Amazon: The social determinants and prevalence among rural communities in Peru.

    Directory of Open Access Journals (Sweden)

    Christopher Westgard

    Full Text Available The consequences of poor child development are becoming increasingly recognized. Programs are being put in place around the world to improve child development by providing healthy and stimulating environments for children. However, these programs often have limited reach and little is known about the prevalence of developmental delay in under-developed communities. The current study set-out to better understand the prevalence of developmental delay in rural communities in the Amazon region of Peru. Also, it explores social determinants that are associated with any delay. Cross-sectional study by evaluating developmental delay in children under 4 years utilizing Ages and Stages Questionnaire (ASQ-3. Additionally, conducting a social determinants questionnaire answered by caretakers to identify social drivers for developmental delay. The data was analyzed with multi-variant analysis to measure association. The prevalence of developmental delay in the Amazonian communities was 26.7% (19.3% in communication, 11.4% in gross motor skills, 8% in both (N = 596. The multivariate logistic regression analysis revealed significant associations between developmental delay and; level of education (OR 0.64, p = 0.009, age of mother during child's birth (OR 0.96, p = 0.002, visits by community health agents (OR 0.73, p = 0.013, and river as primary water source (OR 2.39, p = 0.001. The social determinants questionnaire revealed that 39% of the mothers had their first child before the age of 17, nearly half stopped going to school before the age of 12 (52%, 29% gave birth at home, 13% breast fed for less than 7 months, and 50% of the children had diarrhea in the last month. There is still a great need to improve the conditions for child development in the Amazon region of Peru. One-fourth of the children suffer from developmental delay, which will likely impede their potentials for life unless something is done. The impact of education, age of mother at birth of

  1. Cytogenetic Studies of Rwandan Pediatric Patients Presenting with Global Developmental Delay, Intellectual Disability and/or Multiple Congenital Anomalies

    Science.gov (United States)

    Uwineza, Annette; Hitayezu, Janvier; Jamar, Mauricette; Caberg, Jean-Hubert; Murorunkwere, Seraphine; Janvier, Ndinkabandi; Bours, Vincent

    2016-01-01

    Global developmental delay (GDD) is defined as a significant delay in two or more developmental domains: gross or fine motor, speech/language, cognitive, social/personal and activities of daily living. Many of these children will go on to be diagnosed with intellectual disability (ID), which is most commonly defined as having an IQ Patau syndrome. Other identified chromosomal abnormalities included 47,XX,+del(9)(q11), 46,XY,del(13)(q34) and 46,XX,der(22)t(10;22)(p10;p10)mat. In conclusion, our results highlight the high frequency of cytogenetically detectable abnormalities in this series, with implications for the burden on the healthcare. This study demonstrates the importance of cytogenetic analysis in patients with GDD/ID and MCA. PMID:26507407

  2. Cytogenetic Studies of Rwandan Pediatric Patients Presenting with Global Developmental Delay, Intellectual Disability and/or Multiple Congenital Anomalies.

    Science.gov (United States)

    Uwineza, Annette; Hitayezu, Janvier; Jamar, Mauricette; Caberg, Jean-Hubert; Murorunkwere, Seraphine; Janvier, Ndinkabandi; Bours, Vincent; Mutesa, Leon

    2016-02-01

    Global developmental delay (GDD) is defined as a significant delay in two or more developmental domains: gross or fine motor, speech/language, cognitive, social/personal and activities of daily living. Many of these children will go on to be diagnosed with intellectual disability (ID), which is most commonly defined as having an IQ syndrome and then Edward syndrome and Patau syndrome. Other identified chromosomal abnormalities included 47,XX,+del(9)(q11), 46,XY,del(13)(q34) and 46,XX,der(22)t(10;22)(p10;p10)mat. In conclusion, our results highlight the high frequency of cytogenetically detectable abnormalities in this series, with implications for the burden on the healthcare. This study demonstrates the importance of cytogenetic analysis in patients with GDD/ID and MCA. © The Author [2015]. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  3. Sleep Patterns in Preschool-Age Children with Autism, Developmental Delay, and Typical Development

    Science.gov (United States)

    Goodlin-Jones, Beth L.; Tang, Karen; Liu, Jingyi; Anders, Thomas F.

    2008-01-01

    The study investigates sleep disorders by assessing the quantity and quality of sleep in preschool children with autism and comparing them with developmental delay without autism, and typical development. The results prove that sleep patterns are different in preschool children across all three categories.

  4. Daytime Sleep Patterns in Preschool Children with Autism, Developmental Delay, and Typical Development

    Science.gov (United States)

    Schwichtenberg, A. J.; Iosif, Ana-Maria; Goodlin-Jones, Beth; Tang, Karen; Anders, Thomas

    2011-01-01

    The present study examined daytime sleep patterns in 3 groups of preschool-aged children: children with autism, children with developmental delay, and children who were developing typically. Sleep was assessed in 194 children via actigraphy and parent-report sleep diaries for 7 consecutive days on 3 separate occasions over 6 months. Children with…

  5. Social Routines and Language Play: Developing Communication Responses in Developmentally Delayed Blind Children.

    Science.gov (United States)

    Rogow, Sally M.

    1983-01-01

    Social routines, which combined nursery rhymes with carefully planned action sequences, were used to help two young developmentally delayed, visually handicapped children acquire communicative responses. Midway through the 3-year project, one child responded to words for objects, people, and actions. (Author/SEW)

  6. Marital Satisfaction, Parental Stress, and Child Behavior Problems among Parents of Young Children with Developmental Delays

    Science.gov (United States)

    Robinson, Merideth; Neece, Cameron L.

    2015-01-01

    Studies have found that low marital satisfaction, parenting stress, and child behavior problems are linked in families of children with developmental delays (DD). However, previous investigations examining the relationships between parenting stress, child behavior problems, and marital satisfaction rarely examine the interrelationships of these…

  7. Microarray as a First Genetic Test in Global Developmental Delay: A Cost-Effectiveness Analysis

    Science.gov (United States)

    Trakadis, Yannis; Shevell, Michael

    2011-01-01

    Aim: Microarray technology has a significantly higher clinical yield than karyotyping in individuals with global developmental delay (GDD). Despite this, it has not yet been routinely implemented as a screening test owing to the perception that this approach is more expensive. We aimed to evaluate the effect that replacing karyotype with…

  8. Maternal Immune-Mediated Conditions, Autism Spectrum Disorders, and Developmental Delay

    Science.gov (United States)

    Lyall, Kristen; Ashwood, Paul; Van de Water, Judy; Hertz-Picciotto, Irva

    2014-01-01

    The maternal immune system may play a role in offspring neurodevelopment. We examined whether maternal autoimmune disease, asthma, and allergy were associated with child autism spectrum disorder (ASD) and developmental delay without autism (DD) using 560 ASD cases, 391 typically developing controls, and 168 DD cases from the CHildhood Autism Risk…

  9. Limited access to special education services for school-aged children with developmental delay.

    Science.gov (United States)

    Twardzik, Erica; Smit, Ellen; Hatfield, Bridget; Odden, Michelle C; Dixon-Ibarra, Alicia; MacDonald, Megan

    2018-01-01

    Current policy in Oregon limits eligibility of children diagnosed with developmental delay for school-based services. Due to eligibility definitions, children with developmental delay may face additional barriers transitioning from early intervention/early childhood special education into school-based special education services. Examine the relationship between enrollment in school-based special education programs given a change in primary disability diagnosis. Logistic regression models were fit for children who enrolled in early intervention/early childhood special education services with a primary disability diagnosis of developmental delay and changed primary disability diagnosis before third grade (n=5076). Odds of enrollment in future special education were greater in children with a change in primary disability diagnosis after the age of five in comparison to children that had a change in primary disability diagnosis before the age of five, while adjusting for demographic characteristics (adjusted odds ratio: 2.37, 95% CI 1.92, 2.92). Results suggest that children who are diagnosed with a developmental delay and exit early childhood special education due to maximum age of eligibility are more likely to enroll in special education compared to children without a gap in service access. Gaps in service access during early development are associated with the need for supportive services later on in life. Copyright © 2017 Elsevier Ltd. All rights reserved.

  10. Developmental Delay in Moderately Preterm-Born Children with Low Socioeconomic Status : Risks Multiply

    NARCIS (Netherlands)

    Potijk, Marieke R; Kerstjens, Jorien M; Bos, Arend F; Reijneveld, Sijmen A; de Winter, Andrea F

    2013-01-01

    Objective To assess separate and joint effects of low socioeconomic status (SES) and moderate prematurity on preschool developmental delay. Study design Prospective cohort study with a community-based sample of preterm-and term-born children (Longitudinal Preterm Outcome Project). We assessed SES on

  11. Ring chromosome 9 in a girl with developmental delay and dysmorphic features

    DEFF Research Database (Denmark)

    la Cour Sibbesen, Else; Jespersgaard, Cathrine; Alosi, Daniela

    2013-01-01

    In this report, we describe a female child with dysmorphic features and developmental delay. Chromosome microarray analysis followed by conventional karyotyping revealed a ring chromosome 9 with a 12 Mb deletion at 9pter-p23 and a 540 kb deletion at 9q34.3-qter. Four percent of the analyzed cells...

  12. Therapeutic Intervention for Grandparents and Extended Family of Children with Developmental Delays.

    Science.gov (United States)

    George, Judy Douglas

    1988-01-01

    A program for a family support group for grandparents and extended family of children with developmental delays is described. The program provides a unique opportunity for members to discuss adjustment reactions, develop supportive roles, and strengthen the entire family constellation. (Author/DB)

  13. Establishing Auditory-Tactile-Visual Equivalence Classes in Children with Autism and Developmental Delays

    Science.gov (United States)

    Mullen, Stuart; Dixon, Mark R.; Belisle, Jordan; Stanley, Caleb

    2017-01-01

    The current study sought to evaluate the efficacy of a stimulus equivalence training procedure in establishing auditory-tactile-visual stimulus classes with 2 children with autism and developmental delays. Participants were exposed to vocal-tactile (A-B) and tactile-picture (B-C) conditional discrimination training and were tested for the…

  14. The influence of foot orthoses on the function of a child with developmental delay.

    Science.gov (United States)

    George, Deborah Ann; Elchert, Lindsay

    2007-01-01

    Foot orthoses may lead to improved function when used to control faulty foot biomechanics. The purpose of this case report was to describe the influence of modified stabilizing foot splints (SFSs) on the function of a child with developmental delay. The participant was a 19-month-old girl with hypotonia and developmental delay due to hydrocephalus and congenital absence of the corpus callosum. Modified SFSs were created with the child's feet held in a subtalar neutral position. Five items from the Peabody Developmental Motor Scale II (rise to stand, standing, lowering, cruising, and stepping forward) were tracked over three weeks, under three conditions: with shoes and orthoses, shoes only, and barefoot. The ability to perform these items was improved when wearing shoes and orthoses. The outcomes indicate that future study of the modified SFS as an intervention is warranted.

  15. Sports participation of children with or without developmental delay: prediction from child and family factors.

    Science.gov (United States)

    Marquis, Willa A; Baker, Bruce L

    2015-02-01

    Sports participation is beneficial to health and socioemotional adjustment in youth across development. While there is some evidence indicating lower sports participation for children with developmental delays (DD) as compared with their typically developing (TD) peers, little is known as to the predictors of this differential participation. Given the increased risk of physical and mental health difficulties for children with DD, understanding more about this disparity is important. We examined sports participation in elementary school-aged children with or without DD and examined child and family predictors of three indices of sports participation: number of sports and highest relational sport at ages 6 and 8, and consistent sports from 6 to 8. Children with TD were significantly higher on all three indicators. Mother and child factors related significantly to sports participation indices. The number of sports related positively to mother education and positive perceptions and negatively to mother employment. Relational sports were higher in boys, children with higher social skills, and lower behavior problems. In regression analyses at child age 8 that included these other variables, delay status (DD or TD) did not have a significant effect. Perspectives on varying influences on sports participation and implications for intervention are discussed. Copyright © 2014 Elsevier Ltd. All rights reserved.

  16. Consonant and syllable complexity of toddlers with Down syndrome and mixed-aetiology developmental delays.

    Science.gov (United States)

    Sokol, Shari B; Fey, Marc E

    2013-12-01

    This study examines whether speech sound production of toddlers with Down syndrome (DS) is on par with or more severely impaired than that of mental age (MA) peers with developmental delay due to aetiologies other than Down syndrome at two points within an 18-month period near the onset of spoken word production. The utterances of 26 children with DS, aged 24-33 months, with a mean MA of 14.3 months, originally studied by Fey et al. and Warren et al. were compared to those of a group of 22 children with similar intellectual and communication delay but no DS (NDS). Phonological measures included the size of the consonant inventory, syllable shape complexity, and number of communication acts with canonical vocalizations. At Time 1, the DS group performed as well as or better than the NDS group on these measures of speech production. At Time 2, 18 months later, the DS group was behind the NDS group on the same measures. Results extended the pattern of more severe impairment in children with DS than NDS peers commonly noted in expressive language to measures of phonological development.

  17. Sociosexual knowledge, experience, attitudes, and interests of individuals with autistic disorder and developmental delay.

    Science.gov (United States)

    Konstantareas, M M; Lunsky, Y J

    1997-08-01

    Thirty-one individuals, 15 with autistic disorder and 16 with developmental delay, male and female, were asked to select from a series of drawings depicting sexually relevant activities and to define them. In addition they were asked to describe their sexual experiences, attitudes, and interests, using a semistructured interview format. Ability to select through pointing out sexually relevant body parts or activities was not different by level of functioning, group, or gender. There were differences in providing a sociosexual label, however, with better performance for those with developmental delay and for the higher functioning. No differences were evident for sexual experiences, likely because of the considerable variability across subjects and types of activity, with some individuals reporting very many and others very few. As to attitudes, individuals with autistic disorder endorsed more sexual activities than those with developmental delay. Higher knowledge of sexuality terms and activities was inversely related to their endorsement. Literalness and perseveration were evident in the responses of some, primarily those with autistic disorder. Results are discussed for their relevance to the reliability and validity of information on sexual awareness among the developmentally disabled. Suggestions for future research are offered.

  18. Genetic testing in patients with global developmental delay / intellectual disabilities. A review.

    Science.gov (United States)

    Miclea, Diana; Peca, Loredana; Cuzmici, Zina; Pop, Ioan Victor

    2015-01-01

    Genetic factors are responsible for up to 40% developmental disability cases, such as global developmental delay/intellectual disability (GDD/DI). The American and more recently the European guidelines on this group of diseases state that genetic testing is essential and should become a standardized diagnostic practice. The main arguments for the necessity of implementing such a practice are: (1) the high prevalence of developmental disabilities (3% of the population); (2) the high genetic contribution to this type of pathology; (3) insufficient referral for genetic consultation. In an attempt to address these issues, the purpose of this paper is to present the genetic etiology of global developmental delay / intellectual disability with emphasis on the need to implement a genetic testing protocol for the patients with GDD/DI, as indicated by the current guidelines. Chromosomal abnormalities and fragile X syndrome are the most frequent causes of developmental disabilities and the techniques employed to detect such genetic disorders should be used as first line investigations of GDD/DI.

  19. Toilet training children with autism and developmental delays: an effective program for school settings.

    Science.gov (United States)

    Cocchiola, Michael A; Martino, Gayle M; Dwyer, Lisa J; Demezzo, Kelly

    2012-01-01

    Current research literature on toilet training for children with autism or developmental delays focuses on smaller case studies, typically with concentrated clinical support. Limited research exists to support an effective school-based program to teach toileting skills implemented by public school staff. We describe an intervention program to toilet train 5 children with autism or developmental delays who demonstrated no prior success in the home or school setting. Intervention focused on (a) removal of diapers during school hours, (b) scheduled time intervals for bathroom visits, (c) a maximum of 3 min sitting on the toilet, (d) reinforcers delivered immediately contingent on urination in the toilet, and (e) gradually increased time intervals between bathroom visits as each participant met mastery during the preceding, shorter time interval. The program was effective across all 5 cases in a community-based elementary school. Paraprofessional staff implemented the program with minimal clinical oversight.

  20. Intelligence quotient discrepancy indicates levels of motor competence in preschool children at risk for developmental delays

    Directory of Open Access Journals (Sweden)

    Yu TY

    2016-02-01

    Full Text Available Tzu-Ying Yu,1 Kuan-Lin Chen,2,3 Willy Chou,4,5 Shu-Han Yang,4 Sheng-Chun Kung,4 Ya-Chen Lee,2 Li-Chen Tung4,6,7 1Department of Occupational Therapy, College of Medicine, I-Shou University, Kaohsiung, 2Department of Occupational Therapy, College of Medicine, National Cheng Kung University, Tainan, 3Department of Physical Medicine and Rehabilitation, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, 4Department of Physical Medicine and Rehabilitation, Chi-Mei Medical Center, Tainan, 5Department of Recreation and Health Care Management, Cha Nan University of Pharmacy and Science, Tainan, 6School of Medicine, Kaohsiung Medical University, Kaohsiung, 7School of Medicine, Chung Shan Medical University, Taichung, Taiwan Purpose: This study aimed to establish 1 whether a group difference exists in the motor competence of preschool children at risk for developmental delays with intelligence quotient discrepancy (IQD; refers to difference between verbal intelligence quotient [VIQ] and performance intelligence quotient [PIQ] and 2 whether an association exists between IQD and motor competence.Methods: Children’s motor competence and IQD were determined with the motor subtests of the Comprehensive Developmental Inventory for Infants and Toddlers and Wechsler Preschool and Primary Scale of Intelligence™ – Fourth Edition. A total of 291 children were included in three groups: NON-IQD (n=213; IQD within 1 standard deviation [SD], VIQ>PIQ (n=39; VIQ>PIQ greater than 1 SD, and PIQ>VIQ (n=39; PIQ>VIQ greater than 1 SD.Results: The results of one-way analysis of variance indicated significant differences among the subgroups for the “Gross and fine motor” subdomains of the Comprehensive Developmental Inventory for Infants and Toddlers, especially on the subtests of “body-movement coordination” (F=3.87, P<0.05 and “visual-motor coordination” (F=6.90, P<0.05. Motor competence was significantly

  1. Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability

    Directory of Open Access Journals (Sweden)

    Faravelli Francesca

    2009-04-01

    Full Text Available Abstract Background Intellectual disability affects approximately 1 to 3% of the general population. The etiology is still poorly understood and it is estimated that one-half of the cases are due to genetic factors. Cryptic subtelomeric aberrations have been found in roughly 5 to 7% of all cases. Methods We performed a subtelomeric FISH analysis on 76 unrelated children with normal standard karyotype ascertained by developmental delay or intellectual disability, associated with congenital malformations, and/or facial dysmorphisms. Results Ten cryptic chromosomal anomalies have been identified in the whole cohort (13,16%, 8 in the group of patients characterized by developmental delay or intellectual disability associated with congenital malformations and facial dysmorphisms, 2 in patients with developmental delay or intellectual disability and facial dysmorphisms only. Conclusion We demonstrate that a careful clinical examination is a very useful tool for pre-selection of patients for genomic analysis, clearly enhancing the chromosomal anomaly detection rate. Clinical features of most of these patients are consistent with the corresponding emerging chromosome phenotypes, pointing out these new clinical syndromes associated with specific genomic imbalances.

  2. PARP10 deficiency manifests by severe developmental delay and DNA repair defect.

    Science.gov (United States)

    Shahrour, Maher Awni; Nicolae, Claudia M; Edvardson, Simon; Ashhab, Motee; Galvan, Adri M; Constantin, Daniel; Abu-Libdeh, Bassam; Moldovan, George-Lucian; Elpeleg, Orly

    2016-10-01

    DNA repair mechanisms such as nucleotide excision repair (NER) and translesion synthesis (TLS) are dependent on proliferating cell nuclear antigen (PCNA), a DNA polymerase accessory protein. Recently, homozygosity for p.Ser228Ile mutation in the PCNA gene was reported in patients with neurodegeneration and impaired NER. Using exome sequencing, we identified a homozygous deleterious mutation, c.648delAG, in the PARP10 gene, in a patient suffering from severe developmental delay. In agreement, PARP10 protein was absent from the patient cells. We have previously shown that PARP10 is recruited by PCNA to DNA damage sites and is required for DNA damage resistance. The patient cells were significantly more sensitive to hydroxyurea and UV-induced DNA damage than control cells, resulting in increased apoptosis, indicating DNA repair impairment in the patient cells. PARP10 deficiency joins the long list of DNA repair defects associated with neurodegenerative disorders, including ataxia telangiectasia, xeroderma pigmentosum, Cockayne syndrome, and the recently reported PCNA mutation.

  3. Developmental exposure to an environmental PCB mixture delays the propagation of electrical kindling from the amygdala.

    Science.gov (United States)

    Bandara, Suren B; Sadowski, Renee N; Schantz, Susan L; Gilbert, Mary E

    2017-01-01

    Developmental PCB exposure impairs hearing and induces brainstem audiogenic seizures in adult offspring. The degree to which this enhanced susceptibility to seizure is manifest in other brain regions has not been examined. Thus, electrical kindling of the amygdala was used to evaluate the effect of developmental exposure to an environmentally relevant PCB mixture on seizure susceptibility in the rat. Female Long-Evans rats were dosed orally with 0 or 6mg/kg/day of the PCB mixture dissolved in corn oil vehicle 4 weeks prior to mating and continued through gestation and up until postnatal day (PND) 21. On PND 21, pups were weaned, and two males from each litter were randomly selected for the kindling study. As adults, the male rats were implanted bilaterally with electrodes in the basolateral amygdala. For each animal, afterdischarge (AD) thresholds in the amygdala were determined on the first day of testing followed by once daily stimulation at a standard 200μA stimulus intensity until three stage 5 generalized seizures (GS) ensued. Developmental PCB exposure did not affect the AD threshold or total cumulative AD duration, but PCB exposure did increase the latency to behavioral manifestations of seizure propagation. PCB exposed animals required significantly more stimulations to reach stage 2 seizures compared to control animals, indicating attenuated focal (amygdala) excitability. A delay in kindling progression in the amygdala stands in contrast to our previous finding of increased susceptibility to brainstem-mediated audiogenic seizures in PCB-exposed animals in response to a an intense auditory stimulus. These seemingly divergent results are not unexpected given the distinct source, type, and mechanistic underpinnings of these different seizure models. A delay in epileptogenesis following focal amygdala stimulation may reflect a decrease in neuroplasticity following developmental PCB exposure consistent with reductions in use-dependent synaptic plasticity that

  4. Optimism and positive and negative feelings in parents of young children with developmental delay.

    Science.gov (United States)

    Kurtz-Nelson, E; McIntyre, L L

    2017-07-01

    Parents' positive and negative feelings about their young children influence both parenting behaviour and child problem behaviour. Research has not previously examined factors that contribute to positive and negative feelings in parents of young children with developmental delay (DD). The present study sought to examine whether optimism, a known protective factor for parents of children with DD, was predictive of positive and negative feelings for these parents. Data were collected from 119 parents of preschool-aged children with developmental delay. Two separate hierarchical linear regression analyses were conducted to determine if optimism significantly predicted positive feelings and negative feelings and whether optimism moderated relations between parenting stress and parent feelings. Increased optimism was found to predict increased positive feelings and decreased negative feelings after controlling for child problem behaviour and parenting stress. In addition, optimism was found to moderate the relation between parenting stress and positive feelings. Results suggest that optimism may impact how parents perceive their children with DD. Future research should examine how positive and negative feelings impact positive parenting behaviour and the trajectory of problem behaviour specifically for children with DD. © 2017 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  5. Multilevel linear modelling of the response-contingent learning of young children with significant developmental delays.

    Science.gov (United States)

    Raab, Melinda; Dunst, Carl J; Hamby, Deborah W

    2018-02-27

    The purpose of the study was to isolate the sources of variations in the rates of response-contingent learning among young children with multiple disabilities and significant developmental delays randomly assigned to contrasting types of early childhood intervention. Multilevel, hierarchical linear growth curve modelling was used to analyze four different measures of child response-contingent learning where repeated child learning measures were nested within individual children (Level-1), children were nested within practitioners (Level-2), and practitioners were nested within the contrasting types of intervention (Level-3). Findings showed that sources of variations in rates of child response-contingent learning were associated almost entirely with type of intervention after the variance associated with differences in practitioners nested within groups were accounted for. Rates of child learning were greater among children whose existing behaviour were used as the building blocks for promoting child competence (asset-based practices) compared to children for whom the focus of intervention was promoting child acquisition of missing skills (needs-based practices). The methods of analysis illustrate a practical approach to clustered data analysis and the presentation of results in ways that highlight sources of variations in the rates of response-contingent learning among young children with multiple developmental disabilities and significant developmental delays. Copyright © 2018 The Author(s). Published by Elsevier Ltd.. All rights reserved.

  6. Systematic review of MRI findings in children with developmental delay or cognitive impairment.

    Science.gov (United States)

    Murias, Kara; Moir, Andrea; Myers, Kenneth Alexis; Liu, Irene; Wei, Xing-Chang

    2017-09-01

    To summarize the reported rates of magnetic resonance imaging (MRI) abnormalities in children with isolated global developmental delay (GDD) or intellectual disability (ID). A literature search was conducted using electronic databases for studies reporting the rate of MRI abnormalities in children with clinically diagnosed ID or GDD and no other neurological signs, symptoms, or previously determined aetiology. All investigations with participants from birth to 18years were considered. Study quality was evaluated using the Joanna Briggs Institute Meta-Analysis of Statistics Assessment and Review Instrument (MAStARI) critical appraisal checklist items. Eighteen cross sectional, and 11 case-controlled studies adhered to inclusion criteria. Reported rates of abnormalities ranged from 0% to 98%. When all subjects with developmental delay from all papers were considered (n=2299) the total percentage found to have abnormalities was 38%. Abnormalities led to an etiological diagnosis for delay in 7.9% of cases. Definitions of abnormalities varied widely between studies, and drastically different rates of abnormalities are reported. Currently available evidence is not of sufficient quality to make firm recommendations on the use of neuroimaging in ID or GDD but MRI should be considered for children that do not have a diagnosis after thorough clinical evaluation. Copyright © 2017 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  7. Emotion Discourse, Social Cognition, and Social Skills in Children with and without Developmental Delays

    Science.gov (United States)

    Fenning, RM; Baker, BL; Juvonen, J

    2009-01-01

    This study examined parent-child emotion discourse, children’s independent social information processing, and social skills outcomes in 146 families of 8-year-olds with and without developmental delays. Children’s emergent social-cognitive understanding (internal state understanding, perspective taking, and causal reasoning/problem solving) was coded in the context of parent-child conversations about emotion, and children were interviewed separately to assess social problem solving. Mothers, fathers, and teachers reported on children’s social skills. The proposed strengths-based model partially accounted for social skills differences between typically developing children and children with delays. A multigroup analysis of the model linking emotion discourse to social skills through children’s prosocial problem solving suggested that processes operated similarly across the two groups. Implications for ecologically focused prevention and intervention are discussed. PMID:21410465

  8. Long-Term Aripiprazole in Youth with Developmental Disabilities Including Autism

    Science.gov (United States)

    Hellings, Jessica A.; Boehm, Danna; Yeh, Hung Wen; Butler, Merlin G.; Schroeder, Stephen R.

    2011-01-01

    We retrospectively reviewed clinic charts of 21 children and adolescents with developmental disabilities including autism spectrum disorders (ASD) treated consecutively with aripiprazole (ARI) for irritability and severe challenging behaviors. Data extracted include age, sex, and race; level of intellectual disability (ID); "Diagnostic and…

  9. Correlates of self-injurious, aggressive and destructive behaviour in children under five who are at risk of developmental delay.

    Science.gov (United States)

    Petty, J L; Bacarese-Hamilton, M; Davies, L E; Oliver, C

    2014-01-01

    Several behavioural correlates of self-injury, aggression and destructive behaviour have been identified in children and young adults with intellectual disabilities. This cross-sectional study aimed to further explore these correlates in very young children with developmental delay. Parents of 56 children (40 male) under the age of five years (mean age 2 years 10 months) completed a questionnaire about their child's behaviour and the presence of behavioural correlates, including repetitive, over-active or impulsive behaviour and more severe developmental delay. Parents reported very high prevalence of self-injurious, aggressive and destructive behaviour: 51%, 64% and 51%, respectively. A binary logistic regression revealed that a higher score on a measure of overactive and impulsive behaviour significantly predicted the presence of destructive behaviour. A multiple linear regression revealed that both repetitive behaviour and number of health problems approached significance as independent predictors of severe self-injurious behaviour. Despite the very small sample, several factors emerged as potential predictors of self-injurious, aggressive and destructive behaviour. These findings support the need for further investigation in a larger sample. Confirmation in this age group could help guide the development of targeted early intervention for these behaviours by identifying behavioural risk markers. Copyright © 2013 Elsevier Ltd. All rights reserved.

  10. A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism.

    Science.gov (United States)

    Nguyen, Thi Tuyet Mai; Mahida, Sonal Desai; Smith-Hicks, Constance; Campeau, Philippe M

    2018-03-30

    We identified an individual with a homozygous missense variant (p.Ser103Pro) in a conserved residue of the GPI biosynthesis gene PIGH. This gene encodes an essential component of the phosphatidylinositol N-acetylglucosaminyltransferase complex, in the first step of the biosynthesis of glycosylphosphatidylinositol, a glycolipid anchor added to more than one hundred human proteins, several being critical for embryogenesis and neurological functions. The affected individual had hypotonia, moderate developmental delay, and autism. Unlike other reported individuals with GPI deficiency, the proband did not have epilepsy, however, he did have two episodes of febrile seizures. He had normal alkaline phosphatase and no brachytelephalangy. Upon analysis of the surface expression of GPI-anchored proteins on granulocytes, he was demonstrated to have a GPI deficiency. This suggest that PIGH mutations may cause a syndrome with developmental delay and autism, but without an epileptic encephalopathy, and should increase the awareness of the potentially deleterious nature of bi-allelic variants in this gene. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  11. Developmental delay and emotion dysregulation: Predicting parent-child conflict across early to middle childhood.

    Science.gov (United States)

    Marquis, Willa A; Noroña, Amanda N; Baker, Bruce L

    2017-04-01

    Cumulative risk research has increased understanding of how multiple risk factors impact various socioemotional and interpersonal outcomes across the life span. However, little is known about risk factors for parent-child conflict early in development, where identifying predictors of change could be highly salient for intervention. Given their established association with parent-child conflict, child developmental delay (DD) and emotion dysregulation were examined as predictors of change in conflict across early to middle childhood (ages 3 to 7 years). Participants (n = 211) were part of a longitudinal study examining the development of psychopathology in children with or without DD. Level of parent-child conflict was derived from naturalistic home observations, whereas child dysregulation was measured using an adapted CBCL-Emotion Dysregulation Index. PROCESS was used to examine the conditional interactive effects of delay status (typically developing, DD) and dysregulation on change in conflict from child ages 3 to 5 and 5 to 7 years. Across both of these timeframes, parent-child conflict increased only for families of children with both DD and high dysregulation, providing support for an interactive risk model of parent-child conflict. Findings are considered in the context of developmental transitions, and implications for intervention are discussed. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  12. Diagnostic outcome following routine genetics clinic referral for the assessment of global developmental delay.

    LENUS (Irish Health Repository)

    Shahdadpuri, R

    2012-02-01

    The aim of this study was to ascertain the diagnostic yield following a routine genetics clinic referral for the assessment of global developmental delay. Detailed retrospective review of 119 complete consecutive case notes of patients referred to one single clinical geneticist over a 14 month time period was undertaken (n = 119; 54 males, 65 females). The age at initial review ranged from 2 months to 37 years 3 months (mean 8 y 3 mo [SD 7 y 10 mo]). We made a diagnosis in 36\\/119 (30%); 21\\/36 were new diagnoses and 15\\/36 were confirmations of diagnoses. We removed a wrong diagnostic label in 8\\/119 (7%). In 3\\/8 we were able to achieve a diagnosis but in 5\\/8 no alternative diagnosis was reached. We had a better diagnostic rate where the patients were dysmorphic (odds ratio [OR] 1.825; 95% confidence interval [CI] 1.065 to 3.128, p = 0.044). In the majority, the diagnosis was made by clinical examination only. Molecular diagnosis was reached in seven cases. Five cases were confirmed by cytogenetic analysis. Brain magnetic resonance imaging (MRI) revealed a diagnosis in three cases. This study confirms the importance of a clinical genetics assessment in the investigation of global developmental delay.

  13. Vibrio cholerae hemolysin is required for lethality, developmental delay, and intestinal vacuolation in Caenorhabditis elegans.

    Directory of Open Access Journals (Sweden)

    Hediye Nese Cinar

    Full Text Available BACKGROUND: Cholera toxin (CT and toxin-co-regulated pili (TCP are the major virulence factors of Vibrio cholerae O1 and O139 strains that contribute to the pathogenesis of disease during devastating cholera pandemics. However, CT and TCP negative V. cholerae strains are still able to cause severe diarrheal disease in humans through mechanisms that are not well understood. METHODOLOGY/PRINCIPAL FINDINGS: To determine the role of other virulence factors in V. cholerae pathogenesis, we used a CT and TCP independent infection model in the nematode Caenorhabditis elegans and identified the hemolysin A (hlyA gene as a factor responsible for animal death and developmental delay. We demonstrated a correlation between the severity of infection in the nematode and the level of hemolytic activity in the V. cholerae biotypes. At the cellular level, V. cholerae infection induces formation of vacuoles in the intestinal cells in a hlyA dependent manner, consistent with the previous in vitro observations. CONCLUSIONS/SIGNIFICANCE: Our data strongly suggest that HlyA is a virulence factor in C. elegans infection leading to lethality and developmental delay presumably through intestinal cytopathic changes.

  14. [Prospective study of ketogenic diet in treatment of children with global developmental delay].

    Science.gov (United States)

    Zhu, Deng-Na; Li, Ping; Wang, Jun; Yuan, Jun-Ying; Zhang, Guang-Yu; Liang, Jiang-Fang; Wang, Ming-Mei; Zhao, Yun-Xia; An, Shuang; Ma, Na; Ma, Dan-Dan

    2017-10-01

    To study the effect of ketogenic diet (KD) on neurobehavioral development, emotional and social behaviors, and life ability in children with global developmental delay (GDD). A prospective case-control study was performed for hospitalized children with GDD, who were randomly divided into KD treatment group (n=40) and conventional treatment group (n=37). The children in both groups were given comprehensive rehabilitation training, and those in the KD treatment group were given modified Atkins diet in addition to the comprehensive rehabilitation training. The children in both groups were assessed with the Gesell Developmental Scale, Chinese version of Urban Infant-Toddler Social and Emotional Assessment (CITSEA)/Achenbach Child Behavior Checklist (CBCL), and Infants-Junior High School Students' Social Life Abilities Scale (S-M scale) before treatment and after 3, 6, and 9 months of treatment. The two groups were compared in terms of the improvements in neurobehavioral development, emotional and social behaviors, and social life ability. After 3, 6, and 9 months of treatment, the KD treatment group had significantly greater improvements in the scores of the adaptive, fine motor, and language quotients of the Gesell Developmental Scale compared with the conventional treatment group (Pemotional behaviors in children with GDD, and it has few adverse effects.

  15. The prevalence of chromosomal deletions relating to developmental delay and/or intellectual disability in human euploid blastocysts.

    Science.gov (United States)

    He, Wenyin; Sun, Xiaofang; Liu, Lian; Li, Man; Jin, Hua; Wang, Wei-Hua

    2014-01-01

    Chromosomal anomalies in human embryos produced by in vitro fertilization are very common, which include numerical (aneuploidy) and structural (deletion, duplication or others) anomalies. Our previous study indicated that chromosomal deletion(s) is the most common structural anomaly accounting for approximately 8% of euploid blastocysts. It is still unknown if these deletions in human euploid blastocysts have clinical significance. In this study, we analyzed 15 previously diagnosed euploid blastocysts that had chromosomal deletion(s) using Agilent oligonucleotide DNA microarray platform and localized the gene location in each deletion. Then, we used OMIM gene map and phenotype database to investigate if these deletions are related with some important genes that cause genetic diseases, especially developmental delay or intellectual disability. As results, we found that the detectable chromosomal deletion size with Agilent microarray is above 2.38 Mb, while the deletions observed in human blastocysts are between 11.6 to 103 Mb. With OMIM gene map and phenotype database information, we found that deletions can result in loss of 81-464 genes. Out of these genes, 34-149 genes are related with known genetic problems. Furthermore, we found that 5 out of 15 samples lost genes in the deleted region, which were related to developmental delay and/or intellectual disability. In conclusion, our data indicates that all human euploid blastocysts with chromosomal deletion(s) are abnormal and transfer of these embryos may cause birth defects and/or developmental and intellectual disabilities. Therefore, the embryos with chromosomal deletion revealed by DNA microarray should not be transferred to the patients, or further gene map and/or phenotype seeking is necessary before making a final decision.

  16. Awake craniotomy in a developmentally delayed blind man with cognitive deficits.

    Science.gov (United States)

    Burbridge, Mark; Raazi, Mateen

    2013-04-01

    To describe the complex perioperative considerations and anesthetic management of a cognitively delayed blind adult male who underwent awake craniotomy to remove a left anterior temporal lobe epileptic focus. A 28-yr-old left-handed blind cognitively delayed man was scheduled for awake craniotomy to resect a left anterior temporal lobe epileptic focus due to intractable epilepsy despite multiple medications. His medical history was also significant for retinopathy of prematurity that rendered him legally blind in both eyes and an intracerebral hemorrhage shortly after birth that resulted in a chronic brain injury and developmental delay. His cognitive capacity was comparable with that of an eight year old. Since patient cooperation was the primary concern during the awake electrocorticography phase of surgery, careful assessment of the patient's ability to tolerate the procedure was undertaken. There was extensive planning between surgeons and anesthesiologists, and a patient-specific pharmacological strategy was devised to facilitate surgery. The operation proceeded without complication, the patient has remained seizure-free since the procedure, and his quality of life has improved dramatically. This case shows that careful patient assessment, effective interdisciplinary communication, and a carefully tailored anesthetic strategy can facilitate an awake craniotomy in a potentially uncooperative adult patient with diminished mental capacity and sensory deficits.

  17. Developmentally Delayed Male with Mincer Blade Obstructing the Oesophagus for a Period of Time Suspected to Be 6 Months

    Directory of Open Access Journals (Sweden)

    Christian Grønhøj Larsen

    2015-01-01

    Full Text Available Introduction. Sharp, retained foreign bodies in the oesophagus are associated with severe complications. Developmentally delayed patients are especially subject to foreign objects. We describe a 37-year-old, developmentally delayed male with a mincer blade obstructing the oesophagus. Six months prior to surgical intervention, the patient was hospitalized in a condition of sepsis and pneumonia where the thoracic X-ray reveals a foreign body in the proximal oesophagus. When rehospitalized 6 months later, a mincer blade of the type used in immersion blenders was surgically removed. During these 6 months the patient’s main symptoms were dysphagia, weight loss, and diarrhoea. When developmentally delayed patients present with dysphagia, we strongly encourage the awareness of the possible presence of foreign bodies. To our knowledge this is the first reported case of a mincer blade in the oesophagus.

  18. Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation

    Directory of Open Access Journals (Sweden)

    Wang Liwen

    2010-05-01

    Full Text Available Abstract Background Subtelomeric imbalance is widely accepted as related to developmental delay/mental retardation (DD/MR. Fine mapping of aberrations in gene-enriched subtelomeric regions provides essential clues for localizing critical regions, and provides a strategy for identifying new candidate genes. To date, no large-scale study has been conducted on subtelomeric aberrations in DD/MR patients in mainland China. Methods This study included 451 Chinese children with moderate to severe clinically unexplained DD/MR. The subtelomere-MLPA (multiplex ligation dependent probe amplification and Affymetrix human SNP array 6.0 were used to determine the subtelomeric copy number variations. The exact size and the breakpoint of each identified aberration were well defined. Results The submicroscopic subtelomeric aberrations were identified in 23 patients, with a detection rate of 5.1%. 16 patients had simple deletions, 2 had simple duplications and 5 with both deletions and duplications. The deletions involved 14 different subtelomeric regions (1p, 2p, 4p, 6p, 7p, 7q, 8p, 9p, 10p, 11q, 14q, 15q, 16p and 22q, and duplications involved 7 subtelomeric regions (3q, 4p, 6q, 7p, 8p, 12p and 22q. Of all the subtelomeric aberrations found in Chinese subjects, the most common was 4p16.3 deletion. The sizes of the deletions varied from 0.6 Mb to 12 Mb, with 5-143 genes inside. Duplicated regions were 0.26 Mb to 11 Mb, with 6-202 genes inside. In this study, four deleted subtelomeric regions and one duplicated region were smaller than any other previously reported, specifically the deletions in 11q25, 8p23.3, 7q36.3, 14q32.33, and the duplication in 22q13. Candidate genes inside each region were proposed. Conclusions Submicroscopic subtelomeric aberrations were detected in 5.1% of Chinese children with clinically unexplained DD/MR. Four deleted subtelomeric regions and one duplicated region found in this study were smaller than any previously reported, which

  19. Body Weight Support Treadmill Training for Children With Developmental Delay Who Are Ambulatory

    Science.gov (United States)

    Lowe, Leah; McMillan, Amy Gross; Yates, Charlotte

    2015-01-01

    Purpose To examine the effect of body weight supported treadmill training (BWSTT) on gait and gross motor skill development in children (2–5 years old) with developmental delay who are ambulatory. Methods Twenty-four subjects (12 control, 12 BWSTT) were enrolled in this randomized control trial. All subjects continued to receive physical therapy. Subjects were tested at baseline, 4 weeks, 6 weeks, and at 6 weeks following completion of BWSTT. Outcomes were assessed using the 10 Meter Walk Test (10MWT) and Gross Motor Function Measure- D and E. Results Significant improvements were seen in gait velocity and gross motor skill attainment. With positive interactions in both the 10MWT and GMFM-E, the BWSTT group as compared to the control group demonstrated functional gains in gait velocity and gross motor skills, P = .033 and.017, respectively. Conclusions A 6-week high intensity BWSTT program can improve gait velocity and influence functional gains. PMID:26397083

  20. Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay.

    Science.gov (United States)

    Kim, Myungjin; Sandford, Erin; Gatica, Damian; Qiu, Yu; Liu, Xu; Zheng, Yumei; Schulman, Brenda A; Xu, Jishu; Semple, Ian; Ro, Seung-Hyun; Kim, Boyoung; Mavioglu, R Nehir; Tolun, Aslıhan; Jipa, Andras; Takats, Szabolcs; Karpati, Manuela; Li, Jun Z; Yapici, Zuhal; Juhasz, Gabor; Lee, Jun Hee; Klionsky, Daniel J; Burmeister, Margit

    2016-01-26

    Autophagy is required for the homeostasis of cellular material and is proposed to be involved in many aspects of health. Defects in the autophagy pathway have been observed in neurodegenerative disorders; however, no genetically-inherited pathogenic mutations in any of the core autophagy-related (ATG) genes have been reported in human patients to date. We identified a homozygous missense mutation, changing a conserved amino acid, in ATG5 in two siblings with congenital ataxia, mental retardation, and developmental delay. The subjects' cells display a decrease in autophagy flux and defects in conjugation of ATG12 to ATG5. The homologous mutation in yeast demonstrates a 30-50% reduction of induced autophagy. Flies in which Atg5 is substituted with the mutant human ATG5 exhibit severe movement disorder, in contrast to flies expressing the wild-type human protein. Our results demonstrate the critical role of autophagy in preventing neurological diseases and maintaining neuronal health.

  1. Subtelomeric screening in Serbian children with dysmorphic features and unexplained developmental delay/intellectual disabilities.

    Science.gov (United States)

    Damnjanovic, Tatjana; Cuturilo, Goran; Maksimovic, Nela; Dimitrijevic, Nikola; Mitic, Vesna; Jekic, Biljana; Lukovic, Ljiljana; Bunjevacki, Vera; Varljen, Tatjana; Dobricic, Valerija; Jovanovic, Ida; Kostic, Vladimir; Novakovic, Ivana

    2015-01-01

    Developmental delay and intellectual disabilities (DD/ID) are significant health problems affecting 3% of the human population. Submicroscopic chromosomal rearrangements involving subtelomeric regions are often considered to be the cause of unexplained DD/ID. Screening of subtelomeric regions was performed in 80 unrelated patients with DD/ID and normal GTG-banded chromosomes using the MLPA method with two kits (SALSA P070-B1 and P036-E1). The MLPA screening revealed subtelomeric chromosome aberrations in four cases (5%). The aberrations detected were: 1p deletion, 1p deletion combined with 12q duplication, 4p deletion, and 9p deletion combined with 15q duplication. The deletions detected were classified as causative for the patients' observed phenotypes. This study confirms the high frequency of subtelomeric rearrangements in unexplained DD/ID and reinforces the argument for routine subtelomeric screening in order to get a correct diagnosis, establish genotype-phenotype correlations and offer accurate genetic counseling.

  2. The effectiveness of multimedia visual perceptual training groups for the preschool children with developmental delay.

    Science.gov (United States)

    Chen, Yi-Nan; Lin, Chin-Kai; Wei, Ta-Sen; Liu, Chi-Hsin; Wuang, Yee-Pay

    2013-12-01

    This study compared the effectiveness of three approaches to improving visual perception among preschool children 4-6 years old with developmental delays: multimedia visual perceptual group training, multimedia visual perceptual individual training, and paper visual perceptual group training. A control group received no special training. This study employed a pretest-posttest control group of true experimental design. A total of 64 children 4-6 years old with developmental delays were randomized into four groups: (1) multimedia visual perceptual group training (15 subjects); (2) multimedia visual perceptual individual training group (15 subjects); paper visual perceptual group training (19 subjects); and (4) a control group (15 subjects) with no visual perceptual training. Forty minute training sessions were conducted once a week for 14 weeks. The Test of Visual Perception Skills, third edition, was used to evaluate the effectiveness of the intervention. Paired-samples t-test showed significant differences pre- and post-test among the three groups, but no significant difference was found between the pre-test and post-test scores among the control group. ANOVA results showed significant differences in improvement levels among the four study groups. Scheffe post hoc test results showed significant differences between: group 1 and group 2; group 1 and group 3; group 1 and the control group; and group 2 and the control group. No significant differences were reported between group 2 and group 3, and group 3 and the control group. The results showed all three therapeutic programs produced significant differences between pretest and posttest scores. The training effect on the multimedia visual perceptual group program and the individual program was greater than the developmental effect Both the multimedia visual perceptual group training program and the multimedia visual perceptual individual training program produced significant effects on visual perception. The

  3. Magnetic resonance imaging and proton magnetic resonance spectroscopy of the brain in the diagnostic evaluation of developmental delay

    NARCIS (Netherlands)

    Verbruggen, Krijn T.; Meiners, Linda C.; Sijens, Paul E.; Lunsing, Roelineke J.; van Spronsen, Francjan J.; Brouwer, Oebele F.

    Aim: To assess the contribution of MRI and proton spectroscopy (1HMRS) in establishing an etiological diagnosis in children with developmental delay (DD) and to assess whether the chance of finding specific abnormalities correlates with the presence of neurological signs and/or abnormal head

  4. De novo interstitial deletion of 9q32-34.1 with mental retardation, developmental delay, epilepsy, and cortical dysplasia

    DEFF Research Database (Denmark)

    Tos, T; Alp, M Y; Karacan, C D

    2014-01-01

    In this report we describe a 10 year-old female patient with interstitial deletion of 9q32-q34.1 associated with mental retardation, developmental delay, short stature, mild facial dysmorphism, epilepsy, abnormal EEG and brain MRI findings consistent with focal cortical dysplasia. Interstitial de...

  5. Developmentally Delayed Male with Mincer Blade Obstructing the Oesophagus for a Period of Time Suspected to Be 6 Months

    DEFF Research Database (Denmark)

    Larsen, Christian Grønhøj; Charabi, Birgitte

    2015-01-01

    months the patient's main symptoms were dysphagia, weight loss, and diarrhoea. When developmentally delayed patients present with dysphagia, we strongly encourage the awareness of the possible presence of foreign bodies. To our knowledge this is the first reported case of a mincer blade in the oesophagus....

  6. Teaching Language Skills to Preschool Students with Developmental Delays and Autism Spectrum Disorder Using Language for Learning

    Science.gov (United States)

    Flores, Margaret M.; Schweck, Kelly B.; Hinton, Vanessa

    2016-01-01

    Language intervention using Direct Instruction (DI) has shown positive results. There is a growing body of investigation of Language for Learning (LL), a DI program, on the performance of students with autism spectrum disorders (ASD) and students with developmental delays (DD). There is need for replication and extension of research to include…

  7. OJKO-project: Longitudinal study on the development of young children with a serious cognitive and motor developmental delay

    NARCIS (Netherlands)

    Colla, Stephy; Van Keer, Ines; Schalen, Gertruud Henrike; van der Putten, Annette; Visser, Linda; Maes, Bea; Vlaskamp, Carla; van der Meulen, Bieuwe

    2015-01-01

    Recently, a longitudinal project on the development of children with a serious cognitive and motor developmental delay has started in Belgium and the Netherlands. The aims of this study are to evaluate the cognitive, motor, communicative and social-emotional abilities of young children with a severe

  8. Mothers' Perceived Physical Health during Early and Middle Childhood: Relations with Child Developmental Delay and Behavior Problems

    Science.gov (United States)

    Eisenhower, Abbey; Blacher, Jan; Baker, Bruce L.

    2013-01-01

    The self-perceived physical health of mothers raising children with developmental delay (DD; N = 116) or typical development (TD; N = 129) was examined across child ages 3-9 years, revealing three main findings. First, mothers of children with DD experienced poorer self-rated physical health than mothers of children with TD at each age. Latent…

  9. Six-Month Persistence of Sleep Problems in Young Children with Autism, Developmental Delay, and Typical Development

    Science.gov (United States)

    Goodlin-Jones, Beth; Schwichtenberg, A. J.; Iosif, Ana-Maria; Tang, Karen; Liu, Jingyi; Anders, Thomas F.

    2009-01-01

    The persistence of sleep problems in preschool children is examined against the matched comparison groups of children with developmental delay without autism and typically developing children. Objective and subjective measures of sleep problems of preschool-aged children were found to have produced varying results.

  10. Behavioral Outbursts in a Child with a Deletion Syndrome, Generalized Epilepsy, Global Developmental Delay, and Failure to Thrive.

    Science.gov (United States)

    Lewis, Adam H; Chugh, Ankur; Sobotka, Sarah A

    2018-03-01

    A 7-year-old girl with 20q13.33 deletion and a history of generalized convulsive epilepsy presented to the Developmental and Behavioral Pediatrics Clinic due to concerns about her behavioral outbursts in the context of overall delayed development. Evaluation by the Developmental and Behavioral and Gastroenterology teams revealed failure to thrive (FTT) as the primary cause of the behavioral outbursts and developed a high-calorie, high-fat, high-protein nutritional counseling plan. Children who have FTT and a genetic disorder are often thought to not thrive because of their underlying genetic disorder; however, feeding skills and nutritional intake need to be thoroughly investigated before determining an etiology for FTT. Motoric, communicative, and developmental skills in children with genetic disorders may impede appropriate feeding mechanisms, inducing or exaggerating FTT in these children with developmental disabilities due to genetic etiologies. [Pediatr Ann. 2018;47(3):e130-e134.]. Copyright 2018, SLACK Incorporated.

  11. The effects of early positive parenting and developmental delay status on child emotion dysregulation.

    Science.gov (United States)

    Norona, A N; Baker, B L

    2017-02-01

    Emotion regulation has been identified as a robust predictor of adaptive functioning across a variety of domains (Aldao et al. ). Furthermore, research examining early predictors of competence and deficits in ER suggests that factors internal to the individual (e.g. neuroregulatory reactivity, behavioural traits and cognitive ability) and external to the individual (e.g. caregiving styles and explicit ER training) contribute to the development of ER (Calkins ). Many studies have focused on internal sources or external sources; however, few have studied them simultaneously within one model, especially in studies examining children with developmental delays (DD). Here, we addressed this specific research gap and examined the contributions of one internal factor and one external factor on emotion dysregulation outcomes in middle childhood. Specifically, our current study used structural equation modelling (SEM) to examine prospective, predictive relationships between DD status, positive parenting at age 4 years and child emotion dysregulation at age 7 years. Participants were 151 families in the Collaborative Family Study, a longitudinal study of young children with and without DD. A positive parenting factor was composed of sensitivity and scaffolding scores from mother-child interactions at home and in the research centre at child age 4 years. A child dysregulation factor was composed of a dysregulation code from mother-child interactions and a parent-report measure of ER and lability/negativity at age 7 years. Finally, we tested the hypothesis that positive parenting would mediate the relationship between DD and child dysregulation. Mothers of children with DD exhibited fewer sensitive and scaffolding behaviours compared with mothers of typically developing children, and children with DD were more dysregulated on all measures of ER. SEM revealed that both DD status and early positive parenting predicted emotion dysregulation in middle childhood. Furthermore

  12. Global stability for infectious disease models that include immigration of infected individuals and delay in the incidence

    Directory of Open Access Journals (Sweden)

    Chelsea Uggenti

    2018-03-01

    Full Text Available We begin with a detailed study of a delayed SI model of disease transmission with immigration into both classes. The incidence function allows for a nonlinear dependence on the infected population, including mass action and saturating incidence as special cases. Due to the immigration of infectives, there is no disease-free equilibrium and hence no basic reproduction number. We show there is a unique endemic equilibrium and that this equilibrium is globally asymptotically stable for all parameter values. The results include vector-style delay and latency-style delay. Next, we show that previous global stability results for an SEI model and an SVI model that include immigration of infectives and non-linear incidence but not delay can be extended to systems with vector-style delay and latency-style delay.

  13. [Association between neontal morbidity, gestational age and developmental delays in moderate to late preterm children].

    Science.gov (United States)

    Schonhaut, Luisa; Pérez, Marcela; Muñoz, Sergio

    2015-01-01

    There is evidence that children born moderate-to-late preterm (MLP) have a higher risk of hospitalisation, neonatal morbidity, and developmental delay (DD). To determine the association between DD, gestational age, and neonatal morbidity in MLP children. A case control study design nested in a cohort of MLP children born between 2006 and 2009 at a private hospital located in the Metropolitan area of Santiago. The children were assessed with the Bayley-III Scales of Infant Development at 8 or 18 months corrected age, or at 30 months of chronological age. Neonatal records were retrospectively reviewed. A multivariate analysis was performed to determine the effect of neonatal morbidity on development. A total of 130 MLP children, 25 cases and 105 controls, were studied. Most of them (83.8%) were hospitalised during the neonatal period. Significant differences between cases and controls regarding maternal age and symptomatic hypoglycaemia were observed (crude OR 3.5, adjusted OR 8.18). It was concluded that the variables that negatively affect the rate of development are male gender, being a twin, and gestational age. Symptomatic hypoglycaemia is the main risk factor for DD, while being a twin, male gender, and gestational age influenced the total development rate obtained. It is essential to develop strategies for prevention, screening, and early management of this metabolic disorder to prevent future DD. Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  14. Sleep patterns in preschool-age children with autism, developmental delay, and typical development.

    Science.gov (United States)

    Goodlin-Jones, Beth L; Tang, Karen; Liu, Jingyi; Anders, Thomas F

    2008-08-01

    A prominent noncore symptom of autistic disorder is disturbed sleep, but relatively few studies have investigated this symptom. A multimethod approach assessed the quantity and quality of sleep in 194 children (68 with autism [AUT], 57 with developmental delay without autism [DD], 69 with typical development) recorded over 1 week. Parent perceptions, structured questionnaires, and actigraphy were compared. In addition, problem sleep as defined by parents was compared with research diagnostic criteria for behavioral insomnia obtained from actigraph recordings. On actigraphy, children in the DD group, after sleep onset, exhibited more and longer awakenings than the other two groups. In contrast, children in the AUT group exhibited less total sleep time in 24 hours than the other two groups. Parent reports of sleep problems were higher in the AUT and DD groups than the typical development group, but parent reports did not concur with more objective RDC for behavioral insomnia. Parent reports of sleep problems in all of the groups were significantly associated with increased self-reports of stress. Total 24-hour sleep durations for all of the groups were shorter than recommended for preschool-age children. Our study provides objective evidence that sleep patterns are different in preschool children across the categories of AUT, DD, or typical development.

  15. Paternal versus maternal coping styles with child diagnosis of developmental delay.

    Science.gov (United States)

    Barak-Levy, Yael; Atzaba-Poria, Na'ama

    2013-06-01

    Parents of children with disabilities vary in their reaction to their children's diagnosis. The current study focused on fathers in addition to mothers and examined their resolution and coping styles when having children diagnosed with developmental delay (DD). Sixty-five fathers and 71 mothers were interviewed using the reaction to the diagnosis interview (RDI; Pianta & Marvin, 1992a). Results indicated that the majority of parents were unresolved with their child's diagnosis, with no differences found between fathers' and mothers' rates of resolution. Furthermore, both parents of children that were diagnosed at a later age and parents that were less educated tended to be unresolved, as did fathers of a lower socioeconomic status. Older age of both children and mothers was related to maternal lack of resolution. Finally, an in-depth examination revealed significant differences in the manner in which fathers and mothers cope with their children's diagnosis: whereas mothers were more prone to using an emotional coping style, fathers tended to use a cognitive coping style. The clinical implications of paternal versus maternal coping styles are discussed. Copyright © 2013 Elsevier Ltd. All rights reserved.

  16. Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.

    Directory of Open Access Journals (Sweden)

    Laura Ortega-Moreno

    Full Text Available Pediatric epilepsies are a group of disorders with a broad phenotypic spectrum that are associated with great genetic heterogeneity, thus making sequential single-gene testing an impractical basis for diagnostic strategy. The advent of next-generation sequencing has increased the success rate of epilepsy diagnosis, and targeted resequencing using genetic panels is the a most cost-effective choice. We report the results found in a group of 87 patients with epilepsy and developmental delay using targeted next generation sequencing (custom-designed Haloplex panel. Using this gene panel, we were able to identify disease-causing variants in 17 out of 87 (19.5% analyzed patients, all found in known epilepsy-associated genes (KCNQ2, CDKL5, STXBP1, SCN1A, PCDH19, POLG, SLC2A1, ARX, ALG13, CHD2, SYNGAP1, and GRIN1. Twelve of 18 variants arose de novo and 6 were novel. The highest yield was found in patients with onset in the first years of life, especially in patients classified as having early-onset epileptic encephalopathy. Knowledge of the underlying genetic cause provides essential information on prognosis and could be used to avoid unnecessary studies, which may result in a greater diagnostic cost-effectiveness.

  17. Influence of kindergarten on numbers of multiple developmental delays in preschoolers: an analysis over 14 years.

    Science.gov (United States)

    Stich, Heribert Ludwig; Caniato, Riccardo N; Krämer, Alexander; Baune, Bernhard

    2017-06-01

    The aim of the study was to calculate the impact that the duration of attendance and the location of the kindergarten (rural versus urban) has on the prevalence of multiple delays in preschool children. We analyzed data from 14,068 preschool children, over a period of 14 consecutive years (1997-2010) from the Bavarian Pre-School Morbidity Survey using software package SPSS 21.0. We assessed the incidence of multiple developmental impairments (twofold or above) in various developmental domains. The highest prevalence for multiple delays in development existed for twofold impairments in the area of motor (7.9 %) and lowest in fivefold delays in cognition (0.4 %). A shorter duration of visiting a kindergarten (OR: 4.43) and an urban location (OR: 2.53) was associated with an increased risk of multiple delays in development. A shorter duration and an urban location of kindergarten attendance are associated with an increased risk for children having multiple developmental impairments. From a public health perspective, the setting and duration of kindergarten attendance may be an important focus in preventive efforts to optimize health outcomes in children.

  18. A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.

    Science.gov (United States)

    Beck, David B; Cho, Megan T; Millan, Francisca; Yates, Carin; Hannibal, Mark; O'Connor, Bridget; Shinawi, Marwan; Connolly, Anne M; Waggoner, Darrel; Halbach, Sara; Angle, Brad; Sanders, Victoria; Shen, Yufeng; Retterer, Kyle; Begtrup, Amber; Bai, Renkui; Chung, Wendy K

    2016-07-01

    Exome sequencing is an effective way to identify genetic causes of etiologically heterogeneous conditions such as developmental delay and intellectual disabilities. Using exome sequencing, we have identified four patients with similar phenotypes of developmental delay, intellectual disability, failure to thrive, hypotonia, ataxia, and tooth enamel defects who all have the same de novo R331W missense variant in C-terminal binding protein 1 (CTBP1). CTBP1 is a transcriptional regulator critical for development by coordinating different regulatory pathways. The R331W variant found in these patients is within the C-terminal portion of the PLDLS (Pro-Leu-Asp-Leu-Ser) binding cleft, which is the domain through which CTBP1, interacts with chromatin-modifying enzymes and mediates chromatin-dependent gene repression pathways. This is the first report of mutations within CTBP1 in association with any human disease.

  19. De novo variants inEBF3are associated with hypotonia, developmental delay, intellectual disability, and autism.

    Science.gov (United States)

    Tanaka, Akemi J; Cho, Megan T; Willaert, Rebecca; Retterer, Kyle; Zarate, Yuri A; Bosanko, Katie; Stefans, Vikki; Oishi, Kimihiko; Williamson, Amy; Wilson, Golder N; Basinger, Alice; Barbaro-Dieber, Tina; Ortega, Lucia; Sorrentino, Susanna; Gabriel, Melissa K; Anderson, Ilse J; Sacoto, Maria J Guillen; Schnur, Rhonda E; Chung, Wendy K

    2017-11-01

    Using whole-exome sequencing, we identified seven unrelated individuals with global developmental delay, hypotonia, dysmorphic facial features, and an increased frequency of short stature, ataxia, and autism with de novo heterozygous frameshift, nonsense, splice, and missense variants in the Early B-cell Transcription Factor Family Member 3 ( EBF3 ) gene. EBF3 is a member of the collier/olfactory-1/early B-cell factor (COE) family of proteins, which are required for central nervous system (CNS) development. COE proteins are highly evolutionarily conserved and regulate neuronal specification, migration, axon guidance, and dendritogenesis during development and are essential for maintaining neuronal identity in adult neurons. Haploinsufficiency of EBF3 may affect brain development and function, resulting in developmental delay, intellectual disability, and behavioral differences observed in individuals with a deleterious variant in EBF3 . © 2017 Tanaka et al.; Published by Cold Spring Harbor Laboratory Press.

  20. The Impact of Short-Term Video Games on Performance among Children with Developmental Delays: A Randomized Controlled Trial.

    Directory of Open Access Journals (Sweden)

    Ru-Lan Hsieh

    Full Text Available This prospective, randomized controlled study investigated the effects of short-term interactive video game playing among children with developmental delays participating in traditional rehabilitation treatment at a rehabilitation clinic. One hundred and one boys and 46 girls with a mean age of 5.8 years (range: 3 to 12 years were enrolled in this study. All patients were confirmed to suffer from developmental delays, and were participating in traditional rehabilitation treatment. Children participated in two periods of 4 weeks each, group A being offered intervention of eight 30-minute sessions of interactive video games in the first period, and group B in the second, in addition to the traditional rehabilitation treatment. The physical, psychosocial, and total health of the children was periodically assessed using the parent-reported Pediatric Quality of Life Inventory-Generic Core Scales (PedsQL; and the children's upper extremity and physical function, transfer and basic mobility, sports and physical functioning, and global functioning were assessed using the Pediatric Outcomes Data Collection Instrument. Parental impact was evaluated using the PedsQL-Family Impact Module for family function, PedsQL-Health Satisfaction questionnaire for parents' satisfaction with their children's care and World Health Organization-Quality of Life-Brief Version for quality of life. Compared with the baseline, significant improvements of physical function were observed in both groups (5.6 ± 19.5, p = 0.013; 4.7 ± 13.8, p = 0.009 during the intervention periods. No significant improvement of psychosocial health, functional performance, or family impact was observed in children with developmental delays. Short-term interactive video game play in conjunction with traditional rehabilitation treatment improved the physical health of children with developmental delays.ClinicalTrials.gov NCT02184715.

  1. The Impact of Short-Term Video Games on Performance among Children with Developmental Delays: A Randomized Controlled Trial.

    Science.gov (United States)

    Hsieh, Ru-Lan; Lee, Wen-Chung; Lin, Jui-Hsiang

    2016-01-01

    This prospective, randomized controlled study investigated the effects of short-term interactive video game playing among children with developmental delays participating in traditional rehabilitation treatment at a rehabilitation clinic. One hundred and one boys and 46 girls with a mean age of 5.8 years (range: 3 to 12 years) were enrolled in this study. All patients were confirmed to suffer from developmental delays, and were participating in traditional rehabilitation treatment. Children participated in two periods of 4 weeks each, group A being offered intervention of eight 30-minute sessions of interactive video games in the first period, and group B in the second, in addition to the traditional rehabilitation treatment. The physical, psychosocial, and total health of the children was periodically assessed using the parent-reported Pediatric Quality of Life Inventory-Generic Core Scales (PedsQL); and the children's upper extremity and physical function, transfer and basic mobility, sports and physical functioning, and global functioning were assessed using the Pediatric Outcomes Data Collection Instrument. Parental impact was evaluated using the PedsQL-Family Impact Module for family function, PedsQL-Health Satisfaction questionnaire for parents' satisfaction with their children's care and World Health Organization-Quality of Life-Brief Version for quality of life. Compared with the baseline, significant improvements of physical function were observed in both groups (5.6 ± 19.5, p = 0.013; 4.7 ± 13.8, p = 0.009) during the intervention periods. No significant improvement of psychosocial health, functional performance, or family impact was observed in children with developmental delays. Short-term interactive video game play in conjunction with traditional rehabilitation treatment improved the physical health of children with developmental delays. ClinicalTrials.gov NCT02184715.

  2. Functional performance of school children diagnosed with developmental delay up to two years of age

    Directory of Open Access Journals (Sweden)

    Lílian de Fátima Dornelas

    2016-03-01

    Full Text Available Abstract Objective: To compare the functional performance of students diagnosed with developmental delay (DD up to two years of age with peers exhibiting typical development. Methods: Cross-sectional study with functional performance assessment of children diagnosed with DD up to two years of age compared to those with typical development at seven to eight years of age. Each group consisted of 45 children, selected by non-random sampling, evaluated for motor skills, quality of home environment, school participation and performance. ANOVA and the Binomial test for two proportions were used to assess differences between groups. Results: The group with DD had lower motor skills when compared to the typical group. While 66.7% of children in the typical group showed adequate school participation, receiving aid in cognitive and behavioral tasks similar to that offered to other children at the same level, only 22.2% of children with DD showed the same performance. Although 53.3% of the children with DD achieved an academic performance expected for the school level, there were limitations in some activities. Only two indicators of family environment, diversity and activities with parents at home, showed statistically significant difference between the groups, with advantage being shown for the typical group. Conclusions: Children with DD have persistent difficulties at school age, with motor deficit, restrictions in school activity performance and low participation in the school context, as well as significantly lower functional performance when compared to children without DD. A systematic monitoring of this population is recommended to identify needs and minimize future problems.

  3. Our experience with the aetiological diagnosis of global developmental delay and intellectual disability: 2006-2010.

    Science.gov (United States)

    López-Pisón, J; García-Jiménez, M C; Monge-Galindo, L; Lafuente-Hidalgo, M; Pérez-Delgado, R; García-Oguiza, A; Peña-Segura, J L

    2014-09-01

    Global developmental delay (GDD) and intellectual disability (ID) are common reasons for consultation in paediatric neurology. Results from aetiological evaluations of children with GDD/ID vary greatly, and consequently, there is no universal consensus regarding which studies should be performed. We review our experience with determining aetiological diagnoses for children with GDD/ID who were monitored by the paediatric neurology unit over the 5-year period between 2006 and 2010. During the study period, 995 children with GDD/ID were monitored. An aetiological diagnosis was established for 309 patients (31%), but not in 686 (69%), despite completing numerous tests. A genetic cause was identified in 142 cases (46% of the total aetiologies established), broken down as 118 cases of genetic encephalopathy and 24 of metabolic hereditary diseases. Our data seem to indicate that diagnosis is easier when GDD/ID is associated with cerebral palsy, epilepsy, infantile spasms/West syndrome, or visual deficit, but more difficult in cases of autism spectrum disorders. Genetic studies provide an increasing number of aetiological diagnoses, and they are also becoming the first step in diagnostic studies. Array CGH (microarray-based comparative genomic hybridisation) is the genetic test with the highest diagnostic yield in children with unexplained GDD/ID. The cost-effectiveness of complementary studies seems to be low if there are no clinically suspected entities. However, even in the absence of treatment, aetiological diagnosis is always important in order to provide genetic counselling and possible prenatal diagnosis, resolve family (and doctors') queries, and halt further diagnostic studies. Copyright © 2013 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

  4. Functional performance of school children diagnosed with developmental delay up to two years of age

    Science.gov (United States)

    Dornelas, Lílian de Fátima; Magalhães, Lívia de Castro

    2016-01-01

    Abstract Objective: To compare the functional performance of students diagnosed with developmental delay (DD) up to two years of age with peers exhibiting typical development. Methods: Cross-sectional study with functional performance assessment of children diagnosed with DD up to two years of age compared to those with typical development at seven to eight years of age. Each group consisted of 45 children, selected by non-random sampling, evaluated for motor skills, quality of home environment, school participation and performance. ANOVA and the Binomial test for two proportions were used to assess differences between groups. Results: The group with DD had lower motor skills when compared to the typical group. While 66.7% of children in the typical group showed adequate school participation, receiving aid in cognitive and behavioral tasks similar to that offered to other children at the same level, only 22.2% of children with DD showed the same performance. Although 53.3% of the children with DD achieved an academic performance expected for the school level, there were limitations in some activities. Only two indicators of family environment, diversity and activities with parents at home, showed statistically significant difference between the groups, with advantage being shown for the typical group. Conclusions: Children with DD have persistent difficulties at school age, with motor deficit, restrictions in school activity performance and low participation in the school context, as well as significantly lower functional performance when compared to children without DD. A systematic monitoring of this population is recommended to identify needs and minimize future problems. PMID:26553573

  5. [Functional performance of school children diagnosed with developmental delay up to two years of age].

    Science.gov (United States)

    Dornelas, Lílian de Fátima; Magalhães, Lívia de Castro

    2016-01-01

    To compare the functional performance of students diagnosed with developmental delay (DD) up to two years of age with peers exhibiting typical development. Cross-sectional study with functional performance assessment of children diagnosed with DD up to two years of age compared to those with typical development at seven to eight years of age. Each group consisted of 45 children, selected by non-random sampling, evaluated for motor skills, quality of home environment, school participation and performance. ANOVA and the Binomial test for two proportions were used to assess differences between groups. The group with DD had lower motor skills when compared to the typical group. While 66.7% of children in the typical group showed adequate school participation, receiving aid in cognitive and behavioral tasks similar to that offered to other children at the same level, only 22.2% of children with DD showed the same performance. Although 53.3% of the children with DD achieved an academic performance expected for the school level, there were limitations in some activities. Only two indicators of family environment, diversity and activities with parents at home, showed statistically significant difference between the groups, with advantage being shown for the typical group. Children with DD have persistent difficulties at school age, with motor deficit, restrictions in school activity performance and low participation in the school context, as well as significantly lower functional performance when compared to children without DD. A systematic monitoring of this population is recommended to identify needs and minimize future problems. Copyright © 2015 Sociedade de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

  6. EMOTIONAL AVAILABILITY IN EARLY MOTHER-CHILD INTERACTIONS FOR CHILDREN WITH AUTISM SPECTRUM DISORDERS, OTHER PSYCHIATRIC DISORDERS, AND DEVELOPMENTAL DELAY.

    Science.gov (United States)

    Gul, Hesna; Erol, Nese; Akin, Duygu Pamir; Gullu, Belgin Ustun; Akcakin, Melda; Alpas, Başak; Öner, Özgür

    2016-01-01

    Emotional availability (EA) is a method to assess early parent-child dyadic interactions for emotional awareness, perception, experience, and expression between child and parent that describe global relational quality (Z. Biringen & M. Easterbrooks, 2012). The current study aimed to examine the effects of an infant's diagnosis of autism spectrum disorders (ASDs), other psychiatric disorders (OPD), and developmental delay (DD) on the maternal EA Scale (EAS; Z. Biringen & M. Easterbrooks, 2012; Z. Biringen, J.L. Robinson, & R.N. Emde, 2000) scores and the relative contributions of infant's age, gender, diagnosis, developmental level, and maternal education on EAS scores in a clinical Turkish sample. Three hundred forty-five infant-mother dyads participated in this study. Results of the research indicated that EAS adult scores were associated with maternal education and infant's diagnosis whereas child scores were associated with infant's age, diagnosis, and developmental level. Infants' involvement and responsiveness to the mother were lower in the group with ASD. Children with OPD, particularly when their mothers have lower education, might be at increased risk of having problems in parent-child interactions. Young ASD subjects with developmental delay are in greatest need of support to increase reactions toward their mother. These findings underscore the importance of using all of the EA dimensions rather than only one measure on children in high-risk populations. © 2016 Michigan Association for Infant Mental Health.

  7. The use of MR imaging and spectroscopy of the brain in children investigated for developmental delay: What is the most appropriate imaging strategy?

    International Nuclear Information System (INIS)

    Griffiths, Paul D.; Batty, Ruth; Raghavan, Ashok; Connolly, Daniel J.A.; Warren, Daniel; Hart, Anthony; Sharrard, Mark; Mordekar, Santosh R.

    2011-01-01

    Developmental delay is a common problem in paediatric practice and many children with developmental delay are referred for MR imaging. Our study was performed as part of a continuing audit process to optimise our MR protocol and case selection. We performed MR imaging and spectroscopy protocol on 157 children with developmental delay. We analysed the effect of these interventions by looking at the overall detection rate of relevant pathology and in particular subgroups of the children. 71% of the children had normal MR imaging, 10% had non-specific findings and 19% had specific abnormalities on MR imaging. The overall risk of having a specific structural abnormality with isolated developmental was 7.5% but if other neurological symptoms/signs were present the risk was 28%. Two children had abnormal spectroscopic findings, one with tuberous sclerosis and the other with absent brain creatine. Case selection for MR imaging is important in children with developmental delay. The best strategies for selecting children for MR are either; not performing MR with developmental delay in one domain only or performing MR with developmental delay in three or four domains or if there are other neurological features. (orig.)

  8. The use of MR imaging and spectroscopy of the brain in children investigated for developmental delay: what is the most appropriate imaging strategy?

    Science.gov (United States)

    Griffiths, Paul D; Batty, Ruth; Warren, Daniel; Hart, Anthony; Sharrard, Mark; Mordekar, Santosh R; Raghavan, Ashok; Connolly, Daniel J A

    2011-09-01

    Developmental delay is a common problem in paediatric practice and many children with developmental delay are referred for MR imaging. Our study was performed as part of a continuing audit process to optimise our MR protocol and case selection. We performed MR imaging and spectroscopy protocol on 157 children with developmental delay. We analysed the effect of these interventions by looking at the overall detection rate of relevant pathology and in particular subgroups of the children. 71% of the children had normal MR imaging, 10% had non-specific findings and 19% had specific abnormalities on MR imaging. The overall risk of having a specific structural abnormality with isolated developmental was 7.5% but if other neurological symptoms/signs were present the risk was 28%. Two children had abnormal spectroscopic findings, one with tuberous sclerosis and the other with absent brain creatine. Case selection for MR imaging is important in children with developmental delay. The best strategies for selecting children for MR are either; not performing MR with developmental delay in one domain only or performing MR with developmental delay in three or four domains or if there are other neurological features.

  9. The use of MR imaging and spectroscopy of the brain in children investigated for developmental delay: What is the most appropriate imaging strategy?

    Energy Technology Data Exchange (ETDEWEB)

    Griffiths, Paul D. [University of Sheffield, Academic Unit of Radiology, Sheffield (United Kingdom); Royal Hallamshire Hospital, Academic Unit of Radiology, Sheffield (United Kingdom); Batty, Ruth; Raghavan, Ashok; Connolly, Daniel J.A. [Sheffield Children' s Hospital Trust, Department of Radiology, Sheffield (United Kingdom); Warren, Daniel; Hart, Anthony [University of Sheffield, Academic Unit of Radiology, Sheffield (United Kingdom); Sharrard, Mark [Sheffield Children' s Hospital Trust, Department of Paediatrics, Sheffield (United Kingdom); Mordekar, Santosh R. [Sheffield Children' s Hospital Trust, Department of Paediatric Neurology, Sheffield (United Kingdom)

    2011-09-15

    Developmental delay is a common problem in paediatric practice and many children with developmental delay are referred for MR imaging. Our study was performed as part of a continuing audit process to optimise our MR protocol and case selection. We performed MR imaging and spectroscopy protocol on 157 children with developmental delay. We analysed the effect of these interventions by looking at the overall detection rate of relevant pathology and in particular subgroups of the children. 71% of the children had normal MR imaging, 10% had non-specific findings and 19% had specific abnormalities on MR imaging. The overall risk of having a specific structural abnormality with isolated developmental was 7.5% but if other neurological symptoms/signs were present the risk was 28%. Two children had abnormal spectroscopic findings, one with tuberous sclerosis and the other with absent brain creatine. Case selection for MR imaging is important in children with developmental delay. The best strategies for selecting children for MR are either; not performing MR with developmental delay in one domain only or performing MR with developmental delay in three or four domains or if there are other neurological features. (orig.)

  10. Increased risk of schizophrenia from additive interaction between infant motor developmental delay and obstetric complications: evidence from a population-based longitudinal study.

    LENUS (Irish Health Repository)

    Clarke, Mary C

    2011-12-01

    Obstetric complications and developmental delay are well-established risk factors for schizophrenia. The authors investigated whether these risk factors interact in an additive manner to further increase risk for schizophrenia.

  11. Global developmental delay in guanidionacetate methyltransferase deficiency : differences in formal testing and clinical observation

    NARCIS (Netherlands)

    Verbruggen, Krijn T.; Knijff, Wilma A.; Soorani-Lunsing, Roelineke J.; Sijens, Paul E.; Verhoeven, Nanda M.; Salomons, Gajja S.; Goorhuis-Brouwer, Siena M.; van Spronsen, Francjan J.

    Guanidinoacetate N-methyltransferase (GAMT) deficiency is a defect in the biosynthesis of creatine (Cr). So far, reports have not focused on the description of developmental abilities in this disorder. Here, we present the result of formal testing of developmental abilities in a GAMT-deficient

  12. Case report of 5 siblings: malnutrition? Rickets? DiGeorge syndrome? Developmental delay?

    Directory of Open Access Journals (Sweden)

    Harris William

    2006-01-01

    Full Text Available Abstract Background Parents of six children are facing a trial on charges of aggravated manslaughter in the care a 5 1/2 month old infant who died suddenly and neglect of their four older children for causing them to be malnourished by feeding them all an exclusively raw foods vegan diet. Both parents declined plea bargains and plan to defend themselves in court. Case presentation The fifth child born to a married couple was breast-fed until 2 1/2 months. Subsequently, the parents fed the baby an exclusively raw foods diet prepared in a blender at home. The four older children, ages 18 months – 6 1/2 years also ate an exclusively raw foods vegan diet. None of the four older children had significant previous injuries or serious illnesses. At autopsy, the infant weighed 3180 mg (6.99 pounds and appeared emaciated. The thymus gland was absent and parathyroid glands were not located. The lungs were "congested." DiGeorge anomaly cannot be ruled out from these findings. Although, the coroner ruled that "malnutrition" was the sole cause of death, malnutrition, according to the World Health Organization definition, cannot be diagnosed in this infant. Compared with standard growth charts, the older children fell 2.1–4.1 standard deviations below the mean for North American children in height and weight. Labs were normal except for a low cholesterol level in all and a low prealbumin in one of three children tested. Therefore, malnutrition cannot be diagnosed in these children. The pediatrician diagnosed rickets in the four-year-old. However, chest x-rays were normal in all and long bone x-rays showed minimal changes in one child – no sign of rickets. The clinical diagnosis of rickets was not confirmed by the Center for Disease Control's criteria. A psychologist diagnosed the 18-month-old as developmentally delayed to the level of a 15-month-old, but this diagnosis is questionable. Conclusion The raw foods vegan diet and possibly inherited small

  13. Developmental delay and failure to thrive in a 7-month-old baby boy with spontaneous transient Graves' thyrotoxicosis: a case report.

    Science.gov (United States)

    Yatsuga, Shuichi; Saikusa, Tomoko; Sasaki, Takako; Ushijima, Kikumi; Kitamura, Miyuki; Nishioka, Junko; Koga, Yasutoshi

    2016-08-10

    Thyroid dysfunction can induce developmental delay and failure to thrive in infancy. Congenital hypothyroidism is one of the common causes of these symptoms in infancy. By contrast, hyperthyroidism is a rare cause of these symptoms in infancy. A 7-month-old Japanese baby boy was examined for developmental delay and failure to thrive. Blood tests were performed, which showed low levels of thyroid-stimulating hormone (thrive.

  14. Chronic Lung Disease and Developmental Delay at 2 Years of Age in Children Born Before 28 Weeks' Gestation

    Science.gov (United States)

    Laughon, Matthew; O'Shea, Michael T.; Allred, Elizabeth N.; Bose, Carl; Kuban, Karl; Van Marter, Linda J.; Ehrenkranz, Richard A.; Leviton, Alan

    2009-01-01

    Introduction Extremely low gestational age newborns (ELGANs) are at increased risk of chronic lung disease (CLD) and of developmental delay. Some studies have suggested that CLD contributes to developmental delay. Patients and Methods We examined data collected prospectively on 915 infants born before the 28th week of gestation in 2002–2004 who were assessed at 24 months of age with the Bayley Scales of Infant Development-2nd Edition or the Vineland Adaptive Behavior Scales. We excluded infants who were not able to walk independently (Gross Motor Function Classification System score mechanical ventilation (MV) (CLD without MV) or receiving MV (CLD with MV). Results Forty-nine percent of ELGANs had CLD; of these, 14% were receiving MV at 36 weeks' postmenstrual age. ELGANs without CLD had the lowest risk of a Mental Developmental Index (MDI) or a Psychomotor Developmental Index (PDI) of <55, followed by ELGANs with CLD not receiving MV, and ELGANs with CLD receiving MV (9%, 12%, and 18% for the MDI and 7%, 10%, and 20% for the PDI, respectively). In time-oriented multivariate models, the risk of an MDI of <55 was associated with the following variables: gestational age of <25 weeks; single mother; late bacteremia; pneumothorax; and necrotizing enterocolitis. The risk of a PDI of <55 was associated with variables such as single mother, a complete course of antenatal corticosteroids, early and persistent pulmonary dysfunction, pulmonary deterioration during the second postnatal week, pneumothorax, and pulmonary interstitial emphysema. CLD, without or with MV, was not associated with the risk of either a low MDI or a low PDI. However, CLD with MV approached, but did not achieve, nominal statistical significance (odds ratio: 1.9 [95% confidence interval: 0.97–3.9]) for the association with a PDI of <55. Conclusions Among children without severe gross motor delays, risk factors for CLD account for the association between CLD and developmental delay. Once those

  15. The Efficacy of Arabic Version of the Developmental Assessment of Young Children Second Edition (DAYC-2) Scale in Detecting Developmental Delay among Jordanian Children Aged Birth to 71 Months

    Science.gov (United States)

    Saleh, Rawan M. Abu; Smadi, Jamil M.

    2017-01-01

    This study aimed to assess the efficacy of the developmental assessment of young children second edition (DAYC-2) Scale in detecting Developmental Delay among Jordanian children aged birth to 71 months. Firstly, the scale was translated and reviewed for language and cultural appropriateness. Secondly, the Arabic Jordanian version of the scale was…

  16. Developmental delay in a Streptomyces venezuelae glgE null mutant is associated with the accumulation of α-maltose 1-phosphate.

    Science.gov (United States)

    Miah, Farzana; Bibb, Maureen J; Barclay, J Elaine; Findlay, Kim C; Bornemann, Stephen

    2016-07-01

    The GlgE pathway is thought to be responsible for the conversion of trehalose into a glycogen-like α-glucan polymer in bacteria. Trehalose is first converted to maltose, which is phosphorylated by maltose kinase Pep2 to give α-maltose 1-phosphate. This is the donor substrate of the maltosyl transferase GlgE that is known to extend α-1,4-linked maltooligosaccharides, which are thought to be branched with α-1,6 linkages. The genome of Streptomyces venezuelae contains all the genes coding for the GlgE pathway enzymes but none of those of related pathways, including glgC and glgA of the glycogen pathway. This provides an opportunity to study the GlgE pathway in isolation. The genes of the GlgE pathway were upregulated at the onset of sporulation, consistent with the known timing of α-glucan deposition. A constructed ΔglgE null mutant strain was viable but showed a delayed developmental phenotype when grown on maltose, giving less cell mass and delayed sporulation. Pre-spore cells and spores of the mutant were frequently double the length of those of the wild-type, implying impaired cross-wall formation, and spores showed reduced tolerance to stress. The mutant accumulated α-maltose 1-phosphate and maltose but no α-glucan. Therefore, the GlgE pathway is necessary and sufficient for polymer biosynthesis. Growth of the ΔglgE mutant on galactose and that of a Δpep2 mutant on maltose were analysed. In both cases, neither accumulation of α-maltose 1-phosphate/α-glucan nor a developmental delay was observed. Thus, high levels of α-maltose 1-phosphate are responsible for the developmental phenotype of the ΔglgE mutant, rather than the lack of α-glucan.

  17. Quantitative analysis of the corpus callosum in children with cerebral palsy and developmental delay: correlation with cerebral white matter volume

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    Panigrahy, Ashok [Childrens Hospital Los Angeles, Department of Radiology, Los Angeles, CA (United States); Barnes, Patrick D. [Stanford University Medical Center, Department of Radiology, Lucile Salter Packard Children' s Hospital, Palo Alto, CA (United States); Robertson, Robert L. [Children' s Hospital Boston, Department of Radiology, Boston, MA (United States); Sleeper, Lynn A. [New England Research Institute, Watertown, MA (United States); Sayre, James W. [UCLA Medical Center, Departments of Radiology and Biostatistics, Los Angeles, CA (United States)

    2005-12-01

    This study was conducted to quantitatively correlate the thickness of the corpus callosum with the volume of cerebral white matter in children with cerebral palsy and developmental delay. Material and methods: A clinical database of 70 children with cerebral palsy and developmental delay was established with children between the ages of 1 and 5 years. These children also demonstrated abnormal periventricular T2 hyperintensities associated with and without ventriculomegaly. Mid-sagittal T1-weighted images were used to measure the thickness (genu, mid-body, and splenium) and length of the corpus callosum. Volumes of interest were digitized based on gray-scale densities to define the hemispheric cerebral white matter on axial T2-weighted and FLAIR images. The thickness of the mid-body of the corpus callosum was correlated with cerebral white matter volume. Subgroup analysis was also performed to examine the relationship of this correlation with both gestational age and neuromotor outcome. Statistical analysis was performed using analysis of variance and Pearson correlation coefficients. There was a positive correlation between the thickness of the mid-body of the corpus callosum and the volume of cerebral white matter across all children studied (R=0.665, P=0.0001). This correlation was not dependent on gestational age. The thickness of the mid-body of the corpus callosum was decreased in the spastic diplegia group compared to the two other groups (hypotonia and developmental delay only; P<0.0001). Within each neuromotor subgroup, there was a positive correlation between thickness of the mid-body of the corpus callosum and volume of the cerebral white matter. (orig.)

  18. De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.

    Science.gov (United States)

    Ejaz, Resham; Lionel, Anath C; Blaser, Susan; Walker, Susan; Scherer, Stephen W; Babul-Hirji, Riyana; Marshall, Christian R; Stavropoulos, Dimitri J; Chitayat, David

    2017-10-01

    Disorders of brain formation can occur from pathogenic variants in various alpha and beta tubulin genes. Heterozygous pathogenic variants in the beta tubulin isotype A gene, TUBB2A, have been recently implicated in brain malformations, seizures, and developmental delay. Limited information is known regarding the phenotypic spectrum associated with pathogenic variants in this gene given the rarity of the condition. We report the sixth individual with a de novo heterozygous TUBB2A pathogenic variant, who presented with a severe neurological phenotype along with unique features of arthrogryposis multiplex congenita, optic nerve hypoplasia, dysmorphic facial features, and vocal cord paralysis, thereby expanding the gene-related phenotype. © 2017 Wiley Periodicals, Inc.

  19. The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children.

    Science.gov (United States)

    D'Arrigo, Stefano; Gavazzi, Francesco; Alfei, Enrico; Zuffardi, Orsetta; Montomoli, Cristina; Corso, Barbara; Buzzi, Erika; Sciacca, Francesca L; Bulgheroni, Sara; Riva, Daria; Pantaleoni, Chiara

    2016-05-01

    Microarray-based comparative genomic hybridization is a method of molecular analysis that identifies chromosomal anomalies (or copy number variants) that correlate with clinical phenotypes. The aim of the present study was to apply a clinical score previously designated by de Vries to 329 patients with intellectual disability/developmental disorder (intellectual disability/developmental delay) referred to our tertiary center and to see whether the clinical factors are associated with a positive outcome of aCGH analyses. Another goal was to test the association between a positive microarray-based comparative genomic hybridization result and the severity of intellectual disability/developmental delay. Microarray-based comparative genomic hybridization identified structural chromosomal alterations responsible for the intellectual disability/developmental delay phenotype in 16% of our sample. Our study showed that causative copy number variants are frequently found even in cases of mild intellectual disability (30.77%). We want to emphasize the need to conduct microarray-based comparative genomic hybridization on all individuals with intellectual disability/developmental delay, regardless of the severity, because the degree of intellectual disability/developmental delay does not predict the diagnostic yield of microarray-based comparative genomic hybridization. © The Author(s) 2015.

  20. Stability Analysis of a Class of Second Order Sliding Mode Control Including Delay in Input

    Directory of Open Access Journals (Sweden)

    Pedro R. Acosta

    2013-01-01

    Full Text Available This paper deals with a class of second order sliding mode systems. Based on the derivative of the sliding surface, sufficient conditions are given for stability. However, the discontinuous control signal depend neither on the derivative of sliding surface nor on its estimate. Time delay in control input is also an important issue in sliding mode control for engineering applications. Therefore, also sufficient conditions are given for the time delay size on the discontinuous input signal, so that this class of second order sliding mode systems might have amplitude bounded oscillations. Moreover, amplitude of such oscillations may be estimated. Some numerical examples are given to validate the results. At the end, some conclusions are given on the possibilities of the results as well as their limitations.

  1. A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay.

    Science.gov (United States)

    Edvardson, Simon; Elbaz-Alon, Yael; Jalas, Chaim; Matlock, Ashanti; Patel, Krishna; Labbé, Katherine; Shaag, Avraham; Jackman, Jane E; Elpeleg, Orly

    2016-10-01

    Autosomal-recessive cerebellar atrophy is usually associated with inactivating mutations and early-onset presentation. The underlying molecular diagnosis suggests the involvement of neuronal survival pathways, but many mechanisms are still lacking and most patients elude genetic diagnosis. Using whole exome sequencing, we identified homozygous p.Val55Ala in the THG1L (tRNA-histidine guanylyltransferase 1 like) gene in three siblings who presented with cerebellar signs, developmental delay, dysarthria, and pyramidal signs and had cerebellar atrophy on brain MRI. THG1L protein was previously reported to participate in mitochondrial fusion via its interaction with MFN2. Abnormal mitochondrial fragmentation, including mitochondria accumulation around the nuclei and confinement of the mitochondrial network to the nuclear vicinity, was observed when patient fibroblasts were cultured in galactose containing medium. Culturing cells in galactose containing media promotes cellular respiration by oxidative phosphorylation and the action of the electron transport chain thus stimulating mitochondrial activity. The growth defect of the yeast thg1Δ strain was rescued by the expression of either yeast Thg1 or human THG1L; however, clear growth defect was observed following the expression of the human p.Val55Ala THG1L or the corresponding yeast mutant. A defect in the protein tRNA His guanylyltransferase activity was excluded by the normal in vitro G -1 addition to either yeast tRNA His or human mitochondrial tRNA His in the presence of the THG1L mutation. We propose that homozygosity for the p.Val55Ala mutation in THG1L is the cause of the abnormal mitochondrial network in the patient fibroblasts, likely by interfering with THG1L activity towards MFN2. This may result in lack of mitochondria in the cerebellar Purkinje dendrites, with degeneration of Purkinje cell bodies and apoptosis of granule cells, as reported for MFN2 deficient mice.

  2. Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome.

    Science.gov (United States)

    Wieczorek, Dagmar; Gener, Blanca; González, Ma Jesús Martínez; Seland, Saskia; Fischer, Sven; Hehr, Ute; Kuechler, Alma; Hoefsloot, Lies H; de Leeuw, Nicole; Gillessen-Kaesbach, Gabriele; Lohmann, Dietmar R

    2009-05-01

    Treacher Collins syndrome (TCS, OMIM 154500) is a well-defined mandibulofacial dysostosis characterized by symmetric facial anomalies consisting of malar hypoplasia, coloboma of the lower eyelid, dysplastic ears, micrognathia, cleft palate and deafness. Other mandibulofacial dysostoses (MDs) such as Toriello (OMIM 301950), Bauru (OMIM 604830), Hedera-Toriello-Petty (OMIM 608257), and Guion-Almeida (OMIM 610536) syndromes are less well characterized and much rarer. Here we describe three unrelated patients showing clinical features overlapping with TCS, but who in addition have developmental delay, microcephaly and a distinct facial gestalt. Because of the distinct ear anomalies and the hearing loss a HOXA2 mutation was taken into account. CHARGE syndrome was discussed because of ear anomalies, choanal atresia, and developmental delay in our patients. But mutational analyses including sequencing of the TCOF1, the HOXA2, and the CHD7 genes, deletion screening of the TCOF1 gene as well as genomewide array analyses revealed normal results. We suggest that these three patients have a new type of mandibulofacial dysostosis. As all three cases are sporadic and both sexes are affected the pattern of inheritance might be autosomal dominant or autosomal recessive. Identification of additional patients will allow to further delineate the phenotype, to assign the inheritance pattern and to identify the molecular basis.

  3. Usefulness of the Korean Developmental Screening Test for infants and children for the evaluation of developmental delay in Korean infants and children: a single-center study.

    Science.gov (United States)

    Yim, Chung-Hyuk; Kim, Gun-Ha; Eun, Baik-Lin

    2017-10-01

    To evaluate the usefulness of the Korean Developmental Screening Test (K-DST) for infants and children for developmental delay assessment. This study was based on retrospective studies of the results of the K-DST, Preschool Receptive-Expressive Language Scale (PRES), Sequenced Language Scale for Infants (SELSI), Childhood Autism Rating Scale (CARS), Modified Checklist for Autism in Toddlers (M-CHAT), electroencephalography, magnetic resonance imaging, and extensive tests conducted in 209 of 1,403 patients, of whom 758 underwent the K-DST at the Korea University Guro Hospital between January 2015 and December 2016 and 645 were referred from local clinics between January 2015 and June 2016. Based on the K-DST results, the male children significantly more frequently required further or follow-up examination than the female children in most test sections, except for gross motor. The male children had notably lower mean scores than the female children. The PRES/SELSI results showed that when more further or follow-up evaluations were required in the K-DST communication section, significantly more problems in language delay or disorder emerged. When further or follow-up evaluation was required in the cognitive section in the CARS/M-CHAT, the possibility of autism increased significantly. A child tended to score low in the CARS test and show autism when further or follow-up evaluation was recommended in the K-DST. This study demonstrated the usefulness of the K-DST as a screening test early in the development of infants and children in Korea. Data of normal control groups should be examined to determine the accuracy of this investigation.

  4. Parent Training for Children With or at Risk for Developmental Delay: The Role of Parental Homework Completion.

    Science.gov (United States)

    Ros, Rosmary; Hernandez, Jennifer; Graziano, Paulo A; Bagner, Daniel M

    2016-01-01

    This study investigated the extent to which parental homework completion during behavioral parent training (BPT) for children with or at risk for developmental delay contributed to parenting and child outcomes. Parents of 48 children (Mage=44.17 months, SD=14.29; 73% male; 72% White) with developmental delay (IQhomework completion was measured using parental report of home practice of treatment skills collected weekly by therapists. Parents also reported on child externalizing behavior problems and levels of parenting stress, while parenting skills were observed during a 5-min child directed play and child compliance was observed during a 5-min cleanup situation. Results indicated that higher rates of parental homework completion predicted parenting outcomes (i.e., increased positive parenting skills and decreased levels of parenting stress) and child outcomes (i.e., lower levels of externalizing behavior problems). Additionally, although limited by temporal precedence, there was an indirect effect of reductions in parenting stress on the negative association between parental homework completion and child externalizing behavior problems. These findings highlight the importance of parents practicing skills learned during BPT for optimizing treatment outcome. Parenting stress was also identified as a potential mechanism by which high levels of parental homework completion contributed to reductions in child externalizing behavior problems. Copyright © 2015. Published by Elsevier Ltd.

  5. Mothers' perceived physical health during early and middle childhood: relations with child developmental delay and behavior problems.

    Science.gov (United States)

    Eisenhower, Abbey; Blacher, Jan; Baker, Bruce L

    2013-03-01

    The self-perceived physical health of mothers raising children with developmental delay (DD; N=116) or typical development (TD; N=129) was examined across child ages 3-9 years, revealing three main findings. First, mothers of children with DD experienced poorer self-rated physical health than mothers of children with TD at each age. Latent growth curve analyses indicated that mothers in the DD group experienced poorer health from age 3 but that the two groups showed similar growth across ages 3-9 years. Second, cross-lagged panel analyses supported a child-driven pathway in early childhood (ages 3-5) by which early mother-reported child behavior problems predicted poorer maternal health over time, while the reversed, health-driven path was not supported. Third, this cross-lagged path was significantly stronger in the DD group, indicating that behavior problems more strongly impact mothers' health when children have developmental delay than when children have typical development. The health disparity between mothers of children with DD vs. TD stabilized by child age 5 and persisted across early and middle childhood. Early interventions ought to focus on mothers' well-being, both psychological and physical, in addition to child functioning. Copyright © 2013 Elsevier Ltd. All rights reserved.

  6. Continued use of an interactive computer game-based visual perception learning system in children with developmental delay.

    Science.gov (United States)

    Lin, Hsien-Cheng; Chiu, Yu-Hsien; Chen, Yenming J; Wuang, Yee-Pay; Chen, Chiu-Ping; Wang, Chih-Chung; Huang, Chien-Ling; Wu, Tang-Meng; Ho, Wen-Hsien

    2017-11-01

    This study developed an interactive computer game-based visual perception learning system for special education children with developmental delay. To investigate whether perceived interactivity affects continued use of the system, this study developed a theoretical model of the process in which learners decide whether to continue using an interactive computer game-based visual perception learning system. The technology acceptance model, which considers perceived ease of use, perceived usefulness, and perceived playfulness, was extended by integrating perceived interaction (i.e., learner-instructor interaction and learner-system interaction) and then analyzing the effects of these perceptions on satisfaction and continued use. Data were collected from 150 participants (rehabilitation therapists, medical paraprofessionals, and parents of children with developmental delay) recruited from a single medical center in Taiwan. Structural equation modeling and partial-least-squares techniques were used to evaluate relationships within the model. The modeling results indicated that both perceived ease of use and perceived usefulness were positively associated with both learner-instructor interaction and learner-system interaction. However, perceived playfulness only had a positive association with learner-system interaction and not with learner-instructor interaction. Moreover, satisfaction was positively affected by perceived ease of use, perceived usefulness, and perceived playfulness. Thus, satisfaction positively affects continued use of the system. The data obtained by this study can be applied by researchers, designers of computer game-based learning systems, special education workers, and medical professionals. Copyright © 2017 Elsevier B.V. All rights reserved.

  7. Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation.

    Science.gov (United States)

    Manickam, Kandamurugu; Donoghue, Daniel J; Meyer, April N; Snyder, Pamela J; Prior, Thomas W

    2014-01-01

    Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is an extremely rare severe skeletal dysplasia characterized by significant developmental delay, brain structural abnormalities, hearing loss, and acanthosis nigricans. The disorder is the result of a single missense mutation at codon 650 (p.Lys650Met) in the fibroblast growth factor receptor 3 gene (FGFR3). We describe a child who initially presented with a mild achondroplasia or hypochondroplasia like phenotype. Molecular analysis of the FGFR3 gene showed the common SADDAN mutation and a second novel mutation at codon 651 (p.Thr651Pro). Both mutations were shown to occur on the same allele (cis) and de novo. Transient transfection studies with FGFR3 double mutant constructs show that the p.Thr651Pro mutation causes a dramatic decrease in constitutive receptor kinase activity than that observed by the p.Lys650Met mutation. Our data suggest that the molecular effect by the p.Thr651Pro is to elicit a conformational change that decreases the FGFR3 tyrosine kinase activity, which is constitutively activated by the SADDAN mutation. Due to the inheritance of both a gain-of-function and a loss-of-function mutation, we conclude that a reduction of constitutive activation caused the milder skeletal phenotype. Although the occurrence of double mutations are expected to be rare, the presence of other FGFR3 modifiers may be responsible for some of the clinically discrepant skeletal dysplasia cases. © 2013 Wiley Periodicals, Inc.

  8. De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasis.

    Science.gov (United States)

    Pajusalu, Sander; Reimand, Tiia; Uibo, Oivi; Vasar, Maire; Talvik, Inga; Zilina, Olga; Tammur, Pille; Õunap, Katrin

    2015-01-01

    We report a female patient with a complex phenotype consisting of failure to thrive, developmental delay, congenital bronchiectasis, gastroesophageal reflux and bilateral inguinal hernias. Chromosomal microarray analysis revealed a 230 kilobase deletion in chromosomal region 17q21.32 (arr[hg19] 17q21.32(46 550 362-46 784 039)×1) encompassing only 9 genes - HOXB1 to HOXB9. The deletion was not found in her mother or father. This is the first report of a patient with a HOXB gene cluster deletion involving only HOXB1 to HOXB9 genes. By comparing our case to previously reported five patients with larger chromosomal aberrations involving the HOXB gene cluster, we can suppose that HOXB gene cluster deletions are responsible for growth retardation, developmental delay, and specific facial dysmorphic features. Also, we suppose that bilateral inguinal hernias, tracheo-esophageal abnormalities, and lung malformations represent features with incomplete penetrance. Interestingly, previously published knock-out mice with targeted heterozygous deletion comparable to our patient did not show phenotypic alterations. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  9. Delayed peripheral nerve repair: methods, including surgical ′cross-bridging′ to promote nerve regeneration

    Directory of Open Access Journals (Sweden)

    Tessa Gordon

    2015-01-01

    Full Text Available Despite the capacity of Schwann cells to support peripheral nerve regeneration, functional recovery after nerve injuries is frequently poor, especially for proximal injuries that require regenerating axons to grow over long distances to reinnervate distal targets. Nerve transfers, where small fascicles from an adjacent intact nerve are coapted to the nerve stump of a nearby denervated muscle, allow for functional return but at the expense of reduced numbers of innervating nerves. A 1-hour period of 20 Hz electrical nerve stimulation via electrodes proximal to an injury site accelerates axon outgrowth to hasten target reinnervation in rats and humans, even after delayed surgery. A novel strategy of enticing donor axons from an otherwise intact nerve to grow through small nerve grafts (cross-bridges into a denervated nerve stump, promotes improved axon regeneration after delayed nerve repair. The efficacy of this technique has been demonstrated in a rat model and is now in clinical use in patients undergoing cross-face nerve grafting for facial paralysis. In conclusion, brief electrical stimulation, combined with the surgical technique of promoting the regeneration of some donor axons to ′protect′ chronically denervated Schwann cells, improves nerve regeneration and, in turn, functional outcomes in the management of peripheral nerve injuries.

  10. Doxapram and developmental delay at 12 months in children born extremely preterm

    DEFF Research Database (Denmark)

    Lando, Ane; Klamer, Anja; Jonsbo, Finn

    2005-01-01

    AIM: To examine the relation of doxapram to a developmental score achieved by a structured telephone interview in a group of extremely-preterm-born children. METHODS: Parents of 88 children born extremely preterm were contacted by telephone and interviewed by a structured questionnaire (R-PDQ) wh...

  11. The Biggest Mover: Empowering Students with Intellectual and Developmental Delays and Physical Challenges

    Science.gov (United States)

    Brown, Michelle J.

    2018-01-01

    The Biggest Mover Program, an educational program to improve daily exercise and healthy eating was developed to address the learning needs of students with intellectual and developmental disabilities and physical challenges. The program was part of a three-part program to improve the knowledge of students, staff, and teachers through the use of…

  12. Developmental Exposure to an Environmental PCB Mixture Delays the Propagation of Kindling in the Amygdala

    Science.gov (United States)

    Developmental PCB exposure impairs hearing and induces brainstem audiogenic seizures in adult offspring. The degree to which this enhanced susceptibility to seizure is manifest in other brain regions has not been examined. Thus, electrical kindling of the amygdala was used to eva...

  13. Parenting Stress and Psychological Functioning among Mothers of Preschool Children with Autism and Developmental Delay

    Science.gov (United States)

    Estes, Annette; Munson, Jeffrey; Dawson, Geraldine; Koehler, Elizabeth; Zhou, Xiao-Hua; Abbott, Robert

    2009-01-01

    Parents of children with developmental disabilities, particularly autism spectrum disorders (ASDs), are at risk for high levels of distress. The factors contributing to this are unclear. This study investigated how child characteristics influence maternal parenting stress and psychological distress. Participants consisted of mothers and…

  14. Setting global research priorities for developmental disabilities, including intellectual disabilities and autism.

    Science.gov (United States)

    Tomlinson, M; Yasamy, M T; Emerson, E; Officer, A; Richler, D; Saxena, S

    2014-12-01

    The prevalence of intellectual disabilities (ID) has been estimated at 10.4/1000 worldwide with higher rates among children and adolescents in lower income countries. The objective of this paper is to address research priorities for development disabilities, notably ID and autism, at the global level and to propose the more rational use of scarce funds in addressing this under-investigated area. An expert group was identified and invited to systematically list and score research questions. They applied the priority setting methodology of the Child Health and Nutrition Research Initiative (CHNRI) to generate research questions and to evaluate them using a set of five criteria: answerability, feasibility, applicability and impact, support within the context and equity. The results of this process clearly indicated that the important priorities for future research related to the need for effective and efficient approaches to early intervention, empowerment of families supporting a person with developmental disability and to address preventable causes of poor health in people with ID and autism. For the public health and other systems to become more effective in delivering appropriate support to persons with developmental disabilities, greater (and more targeted) investment in research is required to produce evidence of what works consistent with international human rights standards. © 2014 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  15. Simple Mindreading Abilities Predict Complex Theory of Mind: Developmental Delay in Autism Spectrum Disorders

    Science.gov (United States)

    Pino, Maria Chiara; Mazza, Monica; Mariano, Melania; Peretti, Sara; Dimitriou, Dagmara; Masedu, Francesco; Valenti, Marco; Franco, Fabia

    2017-01-01

    Theory of mind (ToM) is impaired in individuals with autism spectrum disorders (ASD). The aims of this study were to: (i) examine the developmental trajectories of ToM abilities in two different mentalizing tasks in children with ASD compared to TD children; and (ii) to assess if a ToM simple test known as eyes-test could predict performance on…

  16. Endocannabinoid signals in the developmental programming of delayed-onset neuropsychiatric and metabolic illnesses.

    Science.gov (United States)

    Keimpema, Erik; Calvigioni, Daniela; Harkany, Tibor

    2013-12-01

    It is increasingly recognized that maternal exposure to metabolic (nutritional) stimuli, infections, illicit or prescription drugs and environmental stressors during pregnancy can predispose affected offspring to developing devastating postnatal illnesses. If detrimental maternal stimuli coincide with critical periods of tissue production and organogenesis then they can permanently derail key cellular differentiation programs. Maternal programming can thus either provoke developmental failure directly ('direct hit') or introduce latent developmental errors that enable otherwise sub-threshold secondary stressors to manifest as disease ('double hit') postnatally. Accumulating evidence suggests that nervous system development is tightly controlled by maternal metabolic stimuli, and whose synaptic wiring and integrative capacity are adversely affected by dietary and hormonal challenges, infections or episodes of illicit drug use. Endocannabinoids, a family of signal lipids derived from polyunsaturated fatty acids, have been implicated in neuronal fate determination, the control of axonal growth, synaptogenesis and synaptic neurotransmission. Therefore the continuum and interdependence of endocannabinoid actions during the formation and function of synapses together with dynamic changes in focal and circulating endocannabinoid levels upon maternal nutritional imbalance suggest that endocannabinoids can execute the 'reprogramming' of specific neuronal networks. In the present paper, we review molecular evidence suggesting that maternal nutrition and metabolism during pregnancy can affect the formation and function of the hippocampus and hypothalamus by altering endocannabinoid signalling such that neuropsychiatric diseases and obesity respectively ensue in affected offspring. Moreover, we propose that the placenta, fetal adipose and nervous tissues interact via endocannabinoid signals. Thus endocannabinoids are hypothesized to act as a molecular substrate of maternal

  17. Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay.

    Science.gov (United States)

    Daoud, Hussein; Zhang, Dong; McMurray, Fiona; Yu, Andrea; Luco, Stephanie M; Vanstone, Jason; Jarinova, Olga; Carson, Nancy; Wickens, James; Shishodia, Shifali; Choi, Hwanho; McDonough, Michael A; Schofield, Christopher J; Harper, Mary-Ellen; Dyment, David A; Armour, Christine M

    2016-03-01

    A homozygous loss-of-function mutation p.(Arg316Gln) in the fat mass and obesity-associated (FTO) gene, which encodes for an iron and 2-oxoglutarate-dependent oxygenase, was previously identified in a large family in which nine affected individuals present with a lethal syndrome characterised by growth retardation and multiple malformations. To date, no other pathogenic mutation in FTO has been identified as a cause of multiple congenital malformations. We investigated a 21-month-old girl who presented distinctive facial features, failure to thrive, global developmental delay, left ventricular cardiac hypertrophy, reduced vision and bilateral hearing loss. We performed targeted next-generation sequencing of 4813 clinically relevant genes in the patient and her parents. We identified a novel FTO homozygous missense mutation (c.956C>T; p.(Ser319Phe)) in the affected individual. This mutation affects a highly conserved residue located in the same functional domain as the previously characterised mutation p.(Arg316Gln). Biochemical studies reveal that p.(Ser319Phe) FTO has reduced 2-oxoglutarate turnover and N-methyl-nucleoside demethylase activity. Our findings are consistent with previous reports that homozygous mutations in FTO can lead to rare growth retardation and developmental delay syndrome, and further support the proposal that FTO plays an important role in early development of human central nervous and cardiovascular systems. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  18. Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?

    Science.gov (United States)

    Yu, Andrea C; Zambrano, Regina M; Cristian, Ingrid; Price, Sue; Bernhard, Birgitta; Zucker, Marc; Venkateswaran, Sunita; McGowan-Jordan, Jean; Armour, Christine M

    2017-06-01

    Isolated 7p22.3p22.2 deletions are rarely described with only two reports in the literature. Most other reported cases either involve a much larger region of the 7p arm or have an additional copy number variation. Here, we report five patients with overlapping microdeletions at 7p22.3p22.2. The patients presented with variable developmental delays, exhibiting relative weaknesses in expressive language skills and relative strengths in gross, and fine motor skills. The most consistent facial features seen in these patients included a broad nasal root, a prominent forehead a prominent glabella and arched eyebrows. Additional variable features amongst the patients included microcephaly, metopic ridging or craniosynostosis, cleft palate, cardiac defects, and mild hypotonia. Although the patients' deletions varied in size, there was a 0.47 Mb region of overlap which contained 7 OMIM genes: EIP3B, CHST12, LFNG, BRAT1, TTYH3, AMZ1, and GNA12. We propose that monosomy of this region represents a novel microdeletion syndrome. We recommend that individuals with 7p22.3p22.2 deletions should receive a developmental assessment and a thorough cardiac exam, with consideration of an echocardiogram, as part of their initial evaluation. © 2017 Wiley Periodicals, Inc.

  19. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.

    Science.gov (United States)

    DeSanto, Cori; D'Aco, Kristin; Araujo, Gabriel C; Shannon, Nora; Vernon, Hilary; Rahrig, April; Monaghan, Kristin G; Niu, Zhiyv; Vitazka, Patrik; Dodd, Jonathan; Tang, Sha; Manwaring, Linda; Martir-Negron, Arelis; Schnur, Rhonda E; Juusola, Jane; Schroeder, Audrey; Pan, Vivian; Helbig, Katherine L; Friedman, Bethany; Shinawi, Marwan

    2015-11-01

    Rare de novo mutations have been implicated as a significant cause of idiopathic intellectual disability. Large deletions encompassing 10p11.23 have been implicated in developmental delay, behavioural abnormalities and dysmorphic features, but the genotype-phenotype correlation was not delineated. Mutations in WAC have been recently reported in large screening cohorts of patients with intellectual disability or autism, but no full phenotypic characterisation was described. Clinical and molecular characterisation of six patients with loss-of-function WAC mutations identified by whole exome sequencing was performed. Clinical data were obtained by retrospective chart review, parental interviews, direct patient interaction and formal neuropsychological evaluation. Five heterozygous de novo WAC mutations were identified in six patients. Three of the mutations were nonsense, and two were frameshift; all are predicted to cause loss of function either through nonsense-mediated mRNA decay or protein truncation. Clinical findings included developmental delay (6/6), hypotonia (6/6), behavioural problems (5/6), eye abnormalities (5/6), constipation (5/6), feeding difficulties (4/6), seizures (2/6) and sleep problems (2/6). All patients exhibited common dysmorphic features, including broad/prominent forehead, synophrys and/or bushy eyebrows, depressed nasal bridge and bulbous nasal tip. Posteriorly rotated ears, hirsutism, deep-set eyes, thin upper lip, inverted nipples, hearing loss and branchial cleft anomalies were also noted. Our case series show that loss-of-function mutations in WAC cause a recognisable genetic syndrome characterised by a neurocognitive phenotype and facial dysmorphism. Our data highly suggest that WAC haploinsufficiency is responsible for most of the phenotypic features associated with deletions encompassing 10p11.23. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  20. Cognitive-behavioral treatment for specific phobias with a child demonstrating severe problem behavior and developmental delays.

    Science.gov (United States)

    Davis, Thompson E; Kurtz, Patricia F; Gardner, Andrew W; Carman, Nicole B

    2007-01-01

    Cognitive-behavioral treatments (CBTs) are widely used for anxiety disorders in typically developing children; however, there has been no previous attempt to administer CBT for specific phobia (in this case study, one-session treatment) to developmentally or intellectually disabled children. This case study integrates both cognitive-behavioral and behavior analytic assessment techniques in the CBT of water and height phobia in a 7-year-old male with developmental delays and severe behavior problems. One-session treatment [Ost, L. G. (1989). One-session treatment for specific phobias. Behaviour Research and Therapy, 27, 1-7; Ost, L. G. (1997). Rapid treatment of specific phobias. In G. C. L. Davey (Ed.), Phobias: A handbook of theory, research, and treatment (pp. 227-247). New York: Wiley] was provided for water phobia and then 2 months later for height phobia. The massed exposure therapy sessions combined graduated in vivo exposure, participant modeling, cognitive challenges, reinforcement, and other techniques. Both indirect and direct observation measures were utilized to evaluate treatment efficacy. Results suggested CBT reduced or eliminated behavioral avoidance, specific phobia symptoms, and subjective fear. Negative vocalizations were reduced during height exposure following treatment. Vocalizations following treatment for water phobia were less clear and may have been indicative of typical 7-year-old protests during bath time. Findings indicate CBT can be effective for treating clinical fears in an individual with developmental disabilities and severe behavior. Future research in this population should examine CBT as an alternative to other techniques (e.g., forced exposure) for treating fears.

  1. Children with developmental dyslexia showed greater sleep disturbances than controls, including problems initiating and maintaining sleep.

    Science.gov (United States)

    Carotenuto, M; Esposito, M; Cortese, S; Laino, D; Verrotti, A

    2016-09-01

    Although there have been frequent clinical reports about sleep disturbances in children with learning disabilities, no data are available about the prevalence of sleep disturbances in children with developmental dyslexia (DD). This study evaluated sleep disturbances in children with DD referred to a hospital clinic and compared their scores with healthy controls. We consecutively enrolled 147 children (66% male) aged 10.26 ± 2.63 years who were referred by clinical paediatricians to the Clinic for Child and Adolescent Neuropsychiatry at the Second University of Naples with DD and 766 children without DD (60% male) aged 10.49 ± 2.39 years recruited from schools in the same urban area. Sleep disturbances were assessed with the Sleep Disturbances Scale for Children (SDSC), which was filled out by the children's main carers. Compared with the controls, the children with DD showed significantly higher rates of above threshold scores on the total SDSC score (p sleep (p sleep breathing disorders (p Sleep disorders were significantly more frequent in children with DD than in healthy controls. A possible relationship between dyslexia and sleep disorders may have relevant clinical implications. ©2016 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

  2. Enduring effects of severe developmental adversity, including nutritional deprivation, on cortisol metabolism in aging Holocaust survivors.

    Science.gov (United States)

    Yehuda, Rachel; Bierer, Linda M; Andrew, Ruth; Schmeidler, James; Seckl, Jonathan R

    2009-06-01

    In animal models, early life exposure to major environmental challenges such as malnutrition and stress results in persisting cardiometabolic, neuroendocrine and affective effects. While such effects have been associated with pathogenesis, the widespread occurrence of 'developmental programming' suggests it has adaptive function. Glucocorticoids may mediate 'programming' and their metabolism is known to be affected by early life events in rodents. To examine these relationships in humans, cortisol metabolism and cardiometabolic disease manifestations were examined in Holocaust survivors in relation to age at exposure and affective dysfunction, notably lifetime posttraumatic stress disorder (PTSD). Fifty-one Holocaust survivors and 22 controls without Axis I disorder collected 24-h urine samples and were evaluated for psychiatric disorders and cardiometabolic diagnoses. Corticosteroids and their metabolites were assayed by gas chromatography-mass spectroscopy (GC-MS); cortisol was also measured by radioimmunoassay (RIA). Holocaust survivors showed reduced cortisol by RIA, and decreased levels of 5alpha-tetrahydrocortisol (5alpha-THF) and total glucocorticoid production by GC-MS. The latter was associated with lower cortisol metabolism by 5alpha-reductase and 11beta-hydroxysteroid dehydrogenase (11beta-HSD) type-2. The greatest decrements were associated with earliest age of Holocaust exposure and less severe PTSD symptomatology. Cardiometabolic manifestations were associated with decreased 11beta-HSD-2 activity. In controls, 5alpha-reductase was positively associated with trauma-related symptoms (i.e., to traumatic exposures unrelated to the Holocaust). Extreme malnutrition and related stress during development is associated with long-lived alterations in specific pathways of glucocorticoid metabolism. These effects may be adaptive and link with lower risks of cardiometabolic and stress-related disorders in later life.

  3. Mindfulness-Based Stress Reduction for Parents of Young Children with Developmental Delays: Implications for Parental Mental Health and Child Behavior Problems

    Science.gov (United States)

    Neece, Cameron L.

    2014-01-01

    Background: Parents of children with developmental delays (DD) typically report elevated levels of parental stress compared with parents of typically developing children. Children with DD are also at high risk for exhibiting significant behaviour problems. Parental stress has been shown to impact the development of these behaviour problems;…

  4. Salivary Alpha Amylase and Cortisol Levels in Children with Global Developmental Delay and Their Relation with the Expectation of Dental Care and Behavior during the Intervention

    Science.gov (United States)

    dos Santos, Marcio Jose Possari; Bernabe, Daniel Galera; Nakamune, Ana Claudia de Melo Stevanato; Perri, Silvia Helena Venturoli; de Aguiar, Sandra Maria Herondina Coelho Avila; de Oliveira, Sandra Helena Penha

    2012-01-01

    The purpose of this study was to analyze the alpha-amylase (sAA) and cortisol levels in children with Global developmental delay (GDD) before and after dental treatment and its association with the children's behavior during treatment. The morning salivary cortisol levels and activity of sAA of 33 children with GDD were evaluated before and after…

  5. Mitigating the Effects of Poverty and Crime: The Long-Term Effects of an Early Intervention Programme for Children Who Were Developmentally Delayed and Prenatally Exposed to Cocaine

    Science.gov (United States)

    Ullery, Mary Anne; Gonzalez, Antonio; Katz, Lynne

    2016-01-01

    This study explores the long-term impact on participation in the Linda Ray Intervention Program (LRIP) for children (n = 54) who were developmentally delayed and prenatally exposed to cocaine. By identifying a group of programme graduates from a high crime/high poverty neighbourhood in Miami-Dade County using ArcGIS 10.2 software, a…

  6. An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene

    NARCIS (Netherlands)

    Hartill, Verity L.; Tysoe, Carolyn; Manning, Nigel; Dobbie, Angus; Santra, Saikat; Walter, John; Caswell, Richard; Koster, Janet; Waterham, Hans; Hobson, Emma

    2014-01-01

    We report on a family in which four males over three generations are affected with X-linked recessive developmental delay, learning difficulties, severe behavioral difficulties and mild dysmorphic features. Plasma sterol analysis in three of the four affected males demonstrated increased

  7. Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.

    NARCIS (Netherlands)

    Zankl, A.; Elakis, G.; Susman, R.D.; Inglis, G.; Gardener, G.; Buckley, M.F.; Roscioli, T.

    2008-01-01

    We present prenatal and postnatal features of a patient with severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). Mutation analysis confirmed the clinical diagnosis by detecting the FGFR3 Lys650Met mutation. This case, one of only six with molecular analysis reported in

  8. Implementing a Family Centered Program for Physically Impaired/Developmentally Delayed Preschool Children To Bridge the Therapeutic Gap between School and Home.

    Science.gov (United States)

    Kluger, Karen P.

    This practicum addresses the problem of limited interaction between physical therapists and families of developmentally delayed/physically impaired preschool-age children. A program was developed in which the physical therapist was videotaped handling and exercising a child, while explaining the purpose of the movements and instructing the parent…

  9. Is Maternal Influenza or Fever During Pregnancy Associated with Autism or Developmental Delays? Results from the CHARGE (CHildhood Autism Risks from Genetics and Environment) Study

    Science.gov (United States)

    Zerbo, Ousseny; Iosif, Ana-Maria; Walker, Cheryl; Ozonoff, Sally; Hansen, Robin L.; Hertz-Picciotto, Irva

    2013-01-01

    We analyzed data from case groups of 538 children with autism spectrum disorders (ASD) and 163 with developmental delays (DD), and from 421 typically developing controls to assess associations with maternal influenza or fever during pregnancy. Exposure information was obtained by telephone interviews, and outcomes were clinically confirmed. Though…

  10. The Differential Effects of the Use of Handwriting without Tears® Modified Gray Block Paper to Teach Two Preschool Students with Developmental Delays Capital Letter Writing Skills

    Science.gov (United States)

    Griffith, Jessica; McLaughlin, T. F.; Neyman, Jen; Donica, Denise K.; Robison, Milena

    2013-01-01

    The purpose of this study was to evaluate and measure the effectiveness of Handwriting Without Tears (HWT) modified gray block paper with letter writing on two preschool students diagnosed with developmental delays in pre-academics. Two students were selected from a self-contained special education preschool classroom in the Pacific Northwest. All…

  11. Comparing Service Delivery Models for Children with Developmental Delays in Canada: Adaptive and Maladaptive Behaviours, Parental Perceptions of Stress and of Care

    Science.gov (United States)

    Sladeczek, Ingrid E.; Fontil, Laura; Miodrag, Nancy; Karagiannakis, Anastasia; Amar, Daniel; Amos, Janet

    2017-01-01

    This study compares two service delivery models (community-based and centre-based), examining them in light of children's adaptive and maladaptive behaviours, and parental perceptions of stress and of care. More specifically, parents of 96 children with developmental delays assessed their children's adaptive and maladaptive behaviours and rated…

  12. Genomic diagnosis for children with intellectual disability and/or developmental delay.

    Science.gov (United States)

    Bowling, Kevin M; Thompson, Michelle L; Amaral, Michelle D; Finnila, Candice R; Hiatt, Susan M; Engel, Krysta L; Cochran, J Nicholas; Brothers, Kyle B; East, Kelly M; Gray, David E; Kelley, Whitley V; Lamb, Neil E; Lose, Edward J; Rich, Carla A; Simmons, Shirley; Whittle, Jana S; Weaver, Benjamin T; Nesmith, Amy S; Myers, Richard M; Barsh, Gregory S; Bebin, E Martina; Cooper, Gregory M

    2017-05-30

    Developmental disabilities have diverse genetic causes that must be identified to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 of which were sequenced as proband-parent trios. Whole-exome sequences (WES) were generated for 365 individuals (127 affected) and whole-genome sequences (WGS) were generated for 612 individuals (244 affected). Pathogenic or likely pathogenic variants were found in 100 individuals (27%), with variants of uncertain significance in an additional 42 (11.3%). We found that a family history of neurological disease, especially the presence of an affected first-degree relative, reduces the pathogenic/likely pathogenic variant identification rate, reflecting both the disease relevance and ease of interpretation of de novo variants. We also found that improvements to genetic knowledge facilitated interpretation changes in many cases. Through systematic reanalyses, we have thus far reclassified 15 variants, with 11.3% of families who initially were found to harbor a VUS and 4.7% of families with a negative result eventually found to harbor a pathogenic or likely pathogenic variant. To further such progress, the data described here are being shared through ClinVar, GeneMatcher, and dbGaP. Our data strongly support the value of large-scale sequencing, especially WGS within proband-parent trios, as both an effective first-choice diagnostic tool and means to advance clinical and research progress related to pediatric neurological disease.

  13. Screening for developmental delay in preschool-aged children using parent-completed Ages and Stages Questionnaires: additional insights into child development.

    Science.gov (United States)

    Abo El Elella, Soheir S; Tawfik, Maha A M; Abo El Fotoh, Wafaa Moustafa M; Barseem, Naglaa Fathy

    2017-10-01

    Developmental delay is a delay in areas of speech, language, motor, social and cognitive development. Because of the negative impact of intellectual and learning disabilities, early identification of children with developmental and behavioral problems using appropriate screening tests is crucial. Utilization of parent-completed Ages and Stages Questionnaires (ASQs) for detecting the developmental delay in preschool age children and clarification of possible associated risk factors. This cross-sectional study was conducted on 1012 children aged 24-60 months enrolled from six centers (n=608) and six villages (n=404) located in Menoufia Governorate, Egypt. All children were screened by nine age-based questionnaires in the first stage of assessment. Children whose scores were ≤ cut-off points in one or more of the screened developmental areas were considered to have suspected developmental delay (SDD) and underwent further evaluation in the second stage assessment. Among the 1012 studied children aged 24-60 months, 978 (96.4%) had normal development. SDD had an overall prevalence of 3.4%, with the highest rates of SDD in problem-solving (3%), followed by communication (2.4%), fine motor skills (2.2%) and social-personal domain (1%), with no SDD in gross motor skills. SDD was more commonly observed in boys, with a significant association with both parental education and consanguinity. Problems with learning (32.3%) was the most commonly observed provisional diagnosis, followed by language disorders (29.4%). Children with SDD in more than one area of ASQ skills also had mild to borderline IQ scores. The use of of parent-completed ASQs showed an overall prevalence of developmental delay in children aged 24-60 months of3.4%. Male gender, consanguinity and parental education were identified as risk factors for developmental delay. Family counselling about the child's developmental state is needed. © Article author(s) (or their employer(s) unless otherwise stated in the

  14. Effectiveness of a low-cost virtual reality system for children with developmental delay: a preliminary randomised single-blind controlled trial.

    Science.gov (United States)

    Salem, Yasser; Gropack, Stacy Jaffee; Coffin, Dale; Godwin, Ellen M

    2012-09-01

    Physical and occupational therapists have started to use the Nintendo Wii™ gaming system with adults and children as part of their regular treatment. Despite the growing use of the Wii and trend towards evidence-based practice, limited evidence is available on the effectiveness of virtual reality using the Wii for children with developmental delay. The purpose of this study was to determine the feasibility and preliminary effectiveness of a low-cost gaming system for young children with developmental delay. Single-blind, randomised controlled trial. Forty children with developmental delay (age 39 to 58 months) who attended a segregated or integrated preschool participated in this study. All children's parents read and signed an informed consent form approved by the institutional review board. Children were assigned at random to an experimental (Wii) group (n=20) or a control group (n=20). Two weekly sessions for 10 weeks using Nintendo Wii Sports™ and Nintendo Wii Fit™, including balance, strength training and aerobics games. Participants were evaluated 1 week before and 1 week after the programme by a blinded investigator. Primary outcomes were gait speed, timed up and go test, single leg stance test, five-times-sit-to-stand test, timed up and down stairs test, 2-minute walk test and grip strength. The Gross Motor Function Measure (GMFM) was used to assess gross motor skills. The two groups were homogenous regarding all parameters at baseline. The Wii training was feasible and enjoyable for those in the experimental group. There were no adverse effects or injuries reported over 267 training sessions. Comparison of groups following the intervention indicated that the experimental group showed significant improvements compared with the control group in single leg stance test {mean difference 1.03 [standard deviation (SD) 1.7], 95% confidence interval (CI) 0.2 to 1.9; P=0.017}, right grip strength [mean difference 1.11 (SD 1.84), 95% CI 0.15 to 2.06; P=0

  15. Depressive and anxiety symptom trajectories from school age through young adulthood in samples with autism spectrum disorder and developmental delay.

    Science.gov (United States)

    Gotham, Katherine; Brunwasser, Steven M; Lord, Catherine

    2015-05-01

    The objectives of this study were to model growth in anxiety and depressive symptoms from late school age through young adulthood in individuals with autism spectrum disorder (ASD) and controls with developmental delay (DD), and to assess relationships among internalizing growth patterns, participant characteristics, baseline predictors, and distal outcomes. Data were collected between ages 6 and 24 years in 165 participants (n = 109 with ASD; n = 56 with nonspectrum DD), most of whom received diagnostic evaluations in both childhood and early adulthood. Questionnaires were collected approximately every 3 to 6 months between ages 9 and 24 years. Parent-rated Child Behavior Checklist (CBCL), Adult Behavior Checklist (ABCL), and Developmental Behaviour Checklist anxiety- and depression-related subscale distributions were modeled with mixed-effects Poisson models, covarying diagnosis, age, verbal IQ (VIQ), gender, and significant 2- and 3-way interactions. Anxiety was positively associated with VIQ, and controlling for VIQ, both anxiety and depressive symptoms were greater in ASD than nonspectrum participants. Female gender predicted greater increases over time in anxiety and depressive symptoms for both diagnostic groups. Lower maternal education was associated with increasing internalizing symptoms in a subset of less verbal individuals with ASD. In exploratory post hoc analyses, internalizing symptoms were associated with poorer emotional regulation in school age, and with lower life satisfaction and greater social difficulties in early adulthood. Findings support previous claims that individuals with ASD are at particular risk for affect- and anxiety-specific problems. Although symptom levels in females increase at a faster rate throughout adolescence, males with ASD appear to have elevated levels of depressive symptoms in school age that are maintained into young adulthood. Copyright © 2015 American Academy of Child and Adolescent Psychiatry. Published by

  16. Prenatal low-level lead exposure and developmental delay of infants at age 6 months (Krakow inner city study).

    Science.gov (United States)

    Jedrychowski, Wieslaw; Perera, Frederica; Jankowski, Jeffery; Rauh, Virginia; Flak, Elzbieta; Caldwell, Kathleen L; Jones, Robert L; Pac, Agnieszka; Lisowska-Miszczyk, Ilona

    2008-07-01

    The purpose of the study was to assess the neurocognitive status of 6-month-old infants whose mothers were exposed to low but varying amounts of lead during pregnancy. Lead levels in the cord blood were used to assess environmental exposure and the Fagan Test of Infant Intelligence (FTII) assessed visual recognition memory (VRM). The cohort consisted of 452 infants of mothers who gave birth to babies at 33-42 weeks of gestation between January 2001 and March 2003. The overall mean lead level in the cord blood was 1.42 microg/dl (95% CI: 1.35-1.48). We found that VRM scores in 6 month olds were inversely related to lead cord blood levels (Spearman correlation coefficient -0.16, p=0.007). The infants scored lower by 1.5 points with an increase by one unit (1 microg/dl) of lead concentration in cord blood. In the lower exposed infants (1.67 microg/dl) the mean Fagan score was 61.0 (95% CI: 60.3-61.7) and that in the higher exposed group (>1.67 microg/dl) was 58.4 (95% CI: 57.3-59.7). The difference of 2.5 points was significant at the p=0.0005 level. The estimated risk of scoring the high-risk group of developmental delay (FTII classification 3) due to higher lead blood levels was two-fold greater (OR=2.33, 95% CI: 1.32-4.11) than for lower lead blood levels after adjusting for potential confounders (gestational age, gender of the child and maternal education). As the risk of the deficit in VRM score (Fagan group 3) in exposed infants attributable to Pb prenatal exposure was about 50%, a large portion of cases with developmental delay could be prevented by reducing maternal blood lead level below 1.67 microg/dl. Although the negative predictive value of the chosen screening criterion (above 1.67 microg/dl) was relatively high (89%) its positive predictive value was too low (22%), so that the screening program based on the chosen cord blood lead criterion was recommended.

  17. Pericentric inversion of chromosome 11 (p14.3q21) associated with developmental delays, hypopigmented skin lesions and abnormal brain MRI findings - a new case report

    Energy Technology Data Exchange (ETDEWEB)

    Zachor, D.A.; Lofton, M. [Univ. of Alabama, Birmingham (United States)

    1994-09-01

    We report 3 year old male, referred for evaluation of developmental delays. Pregnancy was complicated by oligohydramnios, proteinuria and prematurity. Medical history revealed: bilateral inguinal hernia, small scrotal sac, undescended testes, developmental delays and behavioral problems. The child had: microcephaly, facial dysmorphic features, single palmar creases, hypopigmented skin lesions of variable size, intermittent exotropia and small retracted testes. Neurological examination was normal. Cognitive level was at the average range with mild delay in his adaptive behavior. Expressive language delays and severe articulation disorder were noted, as well as clumsiness, poor control and precision of gross and fine motor skills. Chromosomal analysis of peripheral leukocytes indicated that one of the number 11 chromosomes had undergone a pericentric inversion with breakpoints on the short (p) arm at band p14.3 and the long (q) arm at band q21. An MRI of the brain showed mild delay in myelinization pattern of white matter. Chromosome 11 inversion in other sites was associated with Beckwith-Wiedemann syndrome and several malignancies. To our knowledge this is the first description of inv(11)(p14.3q21) that is associated with microcephaly, dysmorphic features, hypopigmented skin lesions and speech delay. This inversion may disrupt the expression of the involved genes. However, additional cases with the same cytogenetic anomaly are needed to explore the phenotypic significance of this disorder.

  18. Developmental Milestones in Toddlers with Atypical Development

    Science.gov (United States)

    Horovitz, Max; Matson, Johnny L.

    2011-01-01

    The attainment of developmental milestones was examined and compared in 162 infants and toddlers with developmental disabilities, including Down Syndrome (n = 26), Cerebral Palsy (n = 19), Global Developmental Delay (n = 22), Premature birth (n = 66), and Seizure Disorder (n = 29). Toddlers in the Seizures Disorder group began crawling at a…

  19. Specific characteristics of spontaneous movements in preterm infants at term age are associated with developmental delays at age 3 years.

    Science.gov (United States)

    Kanemaru, Nao; Watanabe, Hama; Kihara, Hideki; Nakano, Hisako; Takaya, Rieko; Nakamura, Tomohiko; Nakano, Junji; Taga, Gentaro; Konishi, Yukuo

    2013-08-01

    The aim of this study was to investigate the relationship between the characteristics of spontaneous movements in preterm infants at term age and developmental delay at 3 years of age. We analysed video recordings of the spontaneous movements in the supine position of 124 preterm infants (44 males, 80 females) at 36 to 44 weeks postmenstrual age (PMA). The infants were born preterm (22-36wks PMA; birthweight 489-1696g) and had not received a diagnosis of a neurological or developmental disorder by the age of 3 years. The recorded spontaneous movements were quantified using six movement indices, which were calculated from two-dimensional trajectories of all limbs. The infants were divided into three developmental groups, normal, borderline, or delayed, based on their developmental quotient as calculated using the Kyoto Scale of Psychological Development 2001 (Kyoto Scale) at 3 years of age. Group differences in the movement indices were analysed. In the delayed group, average velocity of arms and legs were significantly lower (ppreterm infants. © 2013 Mac Keith Press.

  20. Acetabuloplasties at Open Reduction Prevent Acetabular Dysplasia in Intentionally Delayed Developmental Dysplasia of the Hip: A Case-control Study.

    Science.gov (United States)

    Carsi, M Belen; Clarke, Nicholas M P

    2016-05-01

    Avascular necrosis (AVN) and residual acetabular dysplasia are the two main complications of developmental dysplasia of the hip (DDH) treatment. Although early reduction of the hip may decrease the incidence of residual dysplasia, it may increase the incidence of AVN and vice versa. However, we do not know if changes in surgical technique may lead to a modification in these outcomes. Does an incomplete periacetabular acetabuloplasty, as an added step to delayed open reduction, (1) diminish the risk of developing acetabular dysplasia; or (2) increase the rate of AVN compared with patients treated with open reduction alone? We conducted a retrospective matched case-control study comparing 22 patients (27 hips) with early isolated DDH who underwent intentionally delayed open reduction and acetabuloplasty from 2004 to 2010 and followed up > 4 years (88% of the cohort) with early historic controls treated with delayed open reduction alone. Of 53 patients available for matching, 45 (85%) had enough followup (> 10 years) to be considered. They were matched one to one for age at presentation and bilaterality (fuzz 45, 0). This generated a control group of 25 patients (27 hips). The mean followup was different between the groups (p dysplasia considered when center-edge angle 30° and pelvic osteotomies were used as our primary outcomes. The proportion of patients with AVN was also compared. Patients treated with open reduction and an incomplete periacetabular acetabuloplasty were less likely to develop acetabular dysplasia and undergo pelvic osteotomies than were patients in the control group (0% [zero of 27] versus 37% [10 of 27]; odds ratio [OR], 11; 95% confidence interval [CI], 2-80; p = 0.02 and 0% [zero of 27] versus 26% [seven of 27]; OR, 8; 95% CI, 1-60; p = 0.025, respectively). With the available numbers, there was no difference in terms of the proportion of patients who developed AVN (11 of 27 [41%] both groups; OR, 1; 95% CI, 1-2; p = 1). The addition of an

  1. Vocalization of Emotional and Social Expressions in Korean-Speaking Toddlers with Autism Spectrum Disorder and Those with Developmental Delay.

    Science.gov (United States)

    Lee, Kyung Sook; Shin, Yee Jin; Yoo, Hee Jeong; Lee, Gui Jong; Ryu, Jeong; Son, Oweol; Cho, Sook Whan

    2018-05-01

    This study aimed to examine the development of socializing and emotional expressions through vocalizations and joint attention (JA) behaviors in Korean-speaking children with autism spectrum disorder (ASD), compared to those with developmental delay (DD). Video samples were collected from 28 toddlers with ASD and 18 age-matched toddlers with DD, and vocalizations were each coded in detail for the purpose of this retrospective research. In addition to some statistical analysis, Computerized Language Analysis was conducted to obtain the final results. Although they produced a higher number of vocalizations than the DD group, the ASD group did not engage in emotional or social interactions with their caretakers, whereas the DD group did. The children with ASD used more atypical vocalizations and socially unengaged vocalizations than the children with DD did. JA using vocalizations in the ASD group, in particular, was largely dyadic, with triadic types occurring at a significantly lower frequency than those in the DD group. Results from this study indicate the importance of assessing early vocalizations in toddlers with ASD, suggesting that some common symptoms of ASD, such as lack of typical, emotional, and social functions in early vocalizations, could be used to develop screening and intervention programs related to ASD. © Copyright: Yonsei University College of Medicine 2018.

  2. Visual abilities of students with severe developmental delay in special needs education - a vision screening project in Northern Jutland, Denmark.

    Science.gov (United States)

    Welinder, Lotte G; Baggesen, Kirsten L

    2012-12-01

    To investigate the visual abilities of students with severe developmental delay (DD) age 6-8 starting in special needs education. Between 1 January 2000 and 31 December 2008, we screened all students with severe DD starting in special needs schools in Northern Jutland, Denmark for vision. All students with visual acuities ≤6/12 were refractioned and examined by an ophthalmologist. Of 502 students, 56 (11%) had visual impairment (VI) [visual acuity (VA) ≤ 6/18], of which 21 had been previously undiagnosed. Legal blindness was found in 15 students (3%), of whom three had previously been undiagnosed. Students tested with preferential looking systems (N = 78) had significantly lower visual acuities [VA (decimal) = 0.55] than students tested with ortho types [VA (decimal) = 0.91] and had problems participating in the colour and form tests, possibly due to cerebral VI. The number of students with decreased vision identified by screening decreased significantly during the study period (r = 0.724, p = 0.028). The number of students needed to be screened to find one student with VI was 24 and to identify legal blindness 181 needed to be screened. Visual impairment is a common condition in students with severe DD. Despite increased awareness of VI in the school and health care system, we continued to find a considerable number of students with hitherto undiagnosed decreased vision. © 2011 The Authors. Acta Ophthalmologica © 2011 Acta Ophthalmologica Scandinavica Foundation.

  3. Benign, pathogenic and copy number variations of unknown clinical significance in patients with congenital malformations and developmental delay

    Directory of Open Access Journals (Sweden)

    Mihaylova M

    2017-06-01

    Full Text Available The high frequency (3.0-5.0% of congenital anomalies (CA and intellectual disabilities (IDs, make them a serious problem, responsible for a high percentage (33.0% of neonatal mortality. The genetic cause remains unclear in 40.0% of cases. Recently, molecular karyotyping has become the most powerful method for detection of pathogenic imbalances in patients with multiple CAs and IDs. This method is with high resolution and gives us the opportunity to investigate and identify candidate genes that could explain the genotype-phenotype correlations. This article describes the results from analysis of 81 patients with congenital malformations (CMs, developmental delay (DD and ID, in which we utilized the CytoChip ISCA oligo microarray, 4 × 44 k, covering the whole genome with a resolution of 70 kb. In the selected group of patients with CAs, 280 copy number variations (CNVs have been proven, 41 were pathogenic, 118 benign and 121 of unknown clinical significance (average number of variations 3.5. In six patients with established pathogenic variations, our data revealed eight pathogenic aberrations associated with the corresponding phenotype. The interpretation of the other CNVs was made on the basis of their frequency in the investigated group, the size of the variation, content of genes in the region and the type of the CNVs (deletion or duplication.

  4. Diagnostic value of diffusion tensor imaging derived metrics as biomarkers of cerebral changes in developmental delay

    Directory of Open Access Journals (Sweden)

    Ashish Verma

    2015-01-01

    Results: Twenty-three regions of interest with 46 variables were included in the final analysis. Nineteen (82.60% regions of interest showed at least one statistically significant variable, while 24 out of 46 (54.34% variables showed statistical significance for future consideration. The important regions to be evaluated in a case of DD are the corpus callosum, bilateral forceps minor and forceps major, bilateral parietal lobes, bilateral post-central gyrus, and bilateral posterior limb internal capsule (PLIC. The regions which did not show any significance are bilateral pars triangularis and right frontal lobe. Other regions remained indeterminate and need further evaluation. Conclusion: DTI demonstrates myelination abnormality in children with DD, having a normal routine MRI.

  5. Three Supernumerary Marker Chromosomes in a Patient with Developmental Delay, Mental Retardation, and Dysmorphic Features

    Directory of Open Access Journals (Sweden)

    Jie Hu

    2011-01-01

    Full Text Available We characterized three supernumerary marker chromosomes (SMCs simultaneously present in a 2-year- and 10-month-old male patient with mental retardation and dysmorphic features. Peripheral blood chromosome analysis revealed two to three SMCs in 25/26 cells analyzed. The remaining one cell had one SMC. Microarray comparative genomic hybridization (aCGH showed mosaicism for gains of 5q35.3, 15q11.2q13.3, and 18p11.21q11.1 regions. All three gains contain multiple OMIM genes. FISH studies indicated that one of the SMCs is a dicentric ring 15 with two copies of the 15q11.2q13.3 region including SNRPN/UBE3A and two copies of the 5q35.3 region. One of the der(18s contains the 18 centromere and 18p11.2 regions, while the other der(18 has a signal for the 18 centromere only. The phenotype of the patient is compared with that of patients with tetrasomy 15q11.2q13.3, trisomy 5q35.3, and trisomy 18p11.2. Our study demonstrates that aCGH and FISH analyses are powerful tools, which complement the conventional cytogenetic analysis for the identification of SMCs.

  6. Developmental delays in phonological recoding among children and adolescents with Down syndrome and Williams syndrome.

    Science.gov (United States)

    Danielsson, Henrik; Henry, Lucy; Messer, David; Carney, Daniel P J; Rönnberg, Jerker

    2016-08-01

    This study examined the development of phonological recoding in short-term memory (STM) span tasks among two clinical groups with contrasting STM and language profiles: those with Down syndrome (DS) and Williams syndrome (WS). Phonological recoding was assessed by comparing: (1) performance on phonologically similar and dissimilar items (phonological similarity effects, PSE); and (2) items with short and long names (word length effects, WLE). Participant groups included children and adolescents with DS (n=29), WS (n=25) and typical development (n=51), all with average mental ages around 6 years. The group with WS, contrary to predictions based on their relatively strong verbal STM and language abilities, showed no evidence for phonological recoding. Those in the group with DS, with weaker verbal STM and language abilities, showed positive evidence for phonological recoding (PSE), but to a lesser degree than the typical group (who showed PSE and WLE). These findings provide new information about the memory systems of these groups of children and adolescents, and suggest that STM processes involving phonological recoding do not fit with the usual expectations of the abilities of children and adolescents with WS and DS. Copyright © 2016 Elsevier Ltd. All rights reserved.

  7. Cerebrotendinous xanthomatosis (CTX): an association of pulverulent cataracts and pseudo-dominant developmental delay in a family with a splice site mutation in CYP27A1--a case report.

    Science.gov (United States)

    Bourkiza, Rabia; Joyce, Sarah; Patel, Himanshu; Chan, Michelle; Meyer, Esther; Maher, Eamonn R; Reddy, M Ashwin

    2010-06-01

    A 15-year-old boy with developmental delay presented to the pediatric ophthalmology clinic with bilateral pulverulent cataracts. The family was examined for developmental delay, cataracts and systemic problems. The parents were consanguineous and originally from Bangladesh. All the children were born in the UK. The mother and 5 children had developmental delay. Three children had global developmental delay, diarrhea and pulverulent cataracts. Two children had microcephaly, developmental delay, constipation and no cataracts. The mother did not have microcephaly, cataracts or gastrointestinal problems. Linkage analysis via autozygosity testing was performed for detection of loci and candidate genes. The patients with cataracts were segregated with homozygous mutations in the CYP27A1 (G to A substitution at position +1 of intron 6). The complex nature of this family's findings suggested that it had an unusual autosomal dominant condition with variable expression. Autozygosity testing demonstrated that three members had Cerebrotendinous xanthomatosis (CTX), which is inherited in an autosomal recessive manner. The aetiology of the developmental delay in other family members remains unknown. Cerebrotendinous xanthomatosis is a rare autosomal recessive condition that can result in neurological deficits and early death if left untreated. In view of the reversible nature of the condition with appropriate treatment, there needs to be a high level of suspicion of CTX for any child with cataracts and developmental delay even if the pattern of inheritance is not straightforward at initial assessment.

  8. Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review

    Directory of Open Access Journals (Sweden)

    Carlos Eduardo Steiner

    2005-01-01

    Full Text Available Two unrelated patients of different sexes are described, both presenting with congenital redundant skin (cutis laxa, growth deficiency, mental retardation and bone dystrophy. Parental consanguinity in both families and a more pronounced severity of the neurological disease in the male patient were present. Both patients were diagnosed in infancy as having De Barsy syndrome, but clinical follow-up revealed that the clinical picture was compatible with the diagnosis of cutis laxa with growth and developmental delay (CLGDD, gerodermia osteodysplastica (GO and wrinkly-skin syndrome (WWS. It has recently been suggested that cutis laxa with growth and developmental delay, gerodermia osteodysplastica and wrinkly skin syndrome are the same condition. A review concerning this diagnosis is also presented.

  9. Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.

    Science.gov (United States)

    Damseh, Nadirah; Simonin, Alexandre; Jalas, Chaim; Picoraro, Joseph A; Shaag, Avraham; Cho, Megan T; Yaacov, Barak; Neidich, Julie; Al-Ashhab, Motee; Juusola, Jane; Bale, Sherri; Telegrafi, Aida; Retterer, Kyle; Pappas, John G; Moran, Ellen; Cappell, Joshua; Anyane Yeboa, Kwame; Abu-Libdeh, Bassam; Hediger, Matthias A; Chung, Wendy K; Elpeleg, Orly; Edvardson, Simon

    2015-08-01

    L-serine plays an essential role in neuronal development and function. Although a non-essential amino acid, L-serine must be synthesised within the brain because of its poor permeability by the blood-brain barrier. Within the brain, its synthesis is confined to astrocytes, and its shuttle to neuronal cells is performed by a dedicated neutral amino acid transporter, ASCT1. Using exome analysis we identified the recessive mutations, p.E256K, p.L315fs, and p.R457W, in SLC1A4, the gene encoding ASCT1, in patients with developmental delay, microcephaly and hypomyelination; seizure disorder was variably present. When expressed in a heterologous system, the mutations did not affect the protein level at the plasma membrane but abolished or markedly reduced L-serine transport for p.R457W and p.E256K mutations, respectively. Interestingly, p.E256K mutation displayed a lower L-serine and alanine affinity but the same substrate selectivity as wild-type ASCT1. The clinical phenotype of ASCT1 deficiency is reminiscent of defects in L-serine biosynthesis. The data underscore that ASCT1 is essential in brain serine transport. The SLC1A4 p.E256K mutation has a carrier frequency of 0.7% in the Ashkenazi-Jewish population and should be added to the carrier screening panel in this community. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  10. Reduced cortical complexity in children with Prader-Willi Syndrome and its association with cognitive impairment and developmental delay.

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    Akvile Lukoshe

    Full Text Available BACKGROUND: Prader-Willi Syndrome (PWS is a complex neurogenetic disorder with symptoms involving not only hypothalamic, but also a global, central nervous system dysfunction. Previously, qualitative studies reported polymicrogyria in adults with PWS. However, there have been no quantitative neuroimaging studies of cortical morphology in PWS and no studies to date in children with PWS. Thus, our aim was to investigate and quantify cortical complexity in children with PWS compared to healthy controls. In addition, we investigated differences between genetic subtypes of PWS and the relationship between cortical complexity and intelligence within the PWS group. METHODS: High-resolution structural magnetic resonance images were acquired in 24 children with genetically confirmed PWS (12 carrying a deletion (DEL, 12 with maternal uniparental disomy (mUPD and 11 age- and sex-matched typically developing siblings as healthy controls. Local gyrification index (lGI was obtained using the FreeSurfer software suite. RESULTS: Four large clusters, two in each hemisphere, comprising frontal, parietal and temporal lobes, had lower lGI in children with PWS, compared to healthy controls. Clusters with lower lGI also had significantly lower cortical surface area in children with PWS. No differences in cortical thickness of the clusters were found between the PWS and healthy controls. lGI correlated significantly with cortical surface area, but not with cortical thickness. Within the PWS group, lGI in both hemispheres correlated with Total IQ and Verbal IQ, but not with Performance IQ. Children with mUPD, compared to children with DEL, had two small clusters with lower lGI in the right hemisphere. lGI of these clusters correlated with cortical surface area, but not with cortical thickness or IQ. CONCLUSIONS: These results suggest that lower cortical complexity in children with PWS partially underlies cognitive impairment and developmental delay, probably due to

  11. Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death.

    Science.gov (United States)

    Cao, Siqi; Smith, Laura L; Padilla-Lopez, Sergio R; Guida, Brandon S; Blume, Elizabeth; Shi, Jiahai; Morton, Sarah U; Brownstein, Catherine A; Beggs, Alan H; Kruer, Michael C; Agrawal, Pankaj B

    2017-09-15

    Eukaryotic elongation factor 1A (EEF1A), is encoded by two distinct isoforms, EEF1A1 and EEF1A2; whereas EEF1A1 is expressed almost ubiquitously, EEF1A2 expression is limited such that it is only detectable in skeletal muscle, heart, brain and spinal cord. Currently, the role of EEF1A2 in normal cardiac development and function is unclear. There have been several reports linking de novo dominant EEF1A2 mutations to neurological issues in humans. We report a pair of siblings carrying a homozygous missense mutation p.P333L in EEF1A2 who exhibited global developmental delay, failure to thrive, dilated cardiomyopathy and epilepsy, ultimately leading to death in early childhood. A third sibling also died of a similar presentation, but DNA was unavailable to confirm the mutation. Functional genomic analysis was performed in S. cerevisiae and zebrafish. In S. cerevisiae, there was no evidence for a dominant-negative effect. Previously identified putative de novo mutations failed to complement yeast strains lacking the EEF1A ortholog showing a major growth defect. In contrast, the introduction of the mutation seen in our family led to a milder growth defect. To evaluate its function in zebrafish, we knocked down eef1a2 expression using translation blocking and splice-site interfering morpholinos. EEF1A2-deficient zebrafish had skeletal muscle weakness, cardiac failure and small heads. Human EEF1A2 wild-type mRNA successfully rescued the morphant phenotype, but mutant RNA did not. Overall, EEF1A2 appears to be critical for normal heart function in humans, and its deficiency results in clinical abnormalities in neurologic function as well as in skeletal and cardiac muscle defects. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  12. The Fault in Their Stars-Accumulating Astrocytic Inclusions Associated With Clusters of Epileptic Spasms in Children With Global Developmental Delay.

    Science.gov (United States)

    Whitney, Robyn; AlMehmadi, Sameer; McCoy, Bláthnaid; Yau, Ivanna; Ochi, Ayako; Otsubo, Hiroshi; Weiss, Shelly K; Rutka, James; Hazrati, Lili-Naz; Snead, O Carter; Go, Cristina

    2017-08-01

    The presence of cerebral astrocytic inclusions recently has been described in a subset of children with early-onset refractory epilepsy, with or without structural brain malformations, and varying degrees of developmental delay. We describe two new individuals with epilepsy with astrocytic inclusions and suggest that in some children this disorder may represent a unique hemispheric epilepsy. We review previously reported individuals with epilepsy with astrocytic inclusions. Two children with early onset epilepsy with astrocytic inclusions had refractory clusters of epileptic spasms, developmental delay, abnormal neuroimaging, and hemispheric or diffuse interictal epileptiform discharges. In both children, the initial focal resection of the putative epileptogenic zone was unsuccessful and pathology failed to show astrocytic inclusions. Subsequently, both children underwent functional hemispherectomy due to ongoing clusters of epileptic spasms, and the presence of multilobar astrocytic inclusions was demonstrated. Postoperatively, both children have remained seizure free in the short-term with improved development. We highlight that functional hemispherectomy may be required for seizure control in a select subset of children with clusters of epileptic spasms, astrocytic inclusions, and global developmental delay. Given the small number of documented patients, however, ongoing collaboration is needed to better understand the pathophysiology of this condition and determine the optimal way to diagnose and manage these children. Crown Copyright © 2017. Published by Elsevier Inc. All rights reserved.

  13. The albino chick as a model for studying ocular developmental anomalies, including refractive errors, associated with albinism.

    Science.gov (United States)

    Rymer, Jodi; Choh, Vivian; Bharadwaj, Shrikant; Padmanabhan, Varuna; Modilevsky, Laura; Jovanovich, Elizabeth; Yeh, Brenda; Zhang, Zhan; Guan, Huanxian; Payne, W; Wildsoet, Christine F

    2007-10-01

    Albinism is associated with a variety of ocular anomalies including refractive errors. The purpose of this study was to investigate the ocular development of an albino chick line. The ocular development of both albino and normally pigmented chicks was monitored using retinoscopy to measure refractive errors and high frequency A-scan ultrasonography to measure axial ocular dimensions. Functional tests included an optokinetic nystagmus paradigm to assess visual acuity, and flash ERGs to assess retinal function. The underlying genetic abnormality was characterized using a gene microarray, PCR and a tyrosinase assay. The ultrastructure of the retinal pigment epithelium (RPE) was examined using transmission electron microscopy. PCR confirmed that the genetic abnormality in this line is a deletion in exon 1 of the tyrosinase gene. Tyrosinase gene expression in isolated RPE cells was minimally detectable, and there was minimal enzyme activity in albino feather bulbs. The albino chicks had pink eyes and their eyes transilluminated, reflecting the lack of melanin in all ocular tissues. All three main components, anterior chamber, crystalline lens and vitreous chamber, showed axial expansion over time in both normal and albino animals, but the anterior chambers of albino chicks were consistently shallower than those of normal chicks, while in contrast, their vitreous chambers were longer. Albino chicks remained relatively myopic, with higher astigmatism than the normally pigmented chicks, even though both groups underwent developmental emmetropization. Albino chicks had reduced visual acuity yet the ERG a- and b-wave components had larger amplitudes and shorter than normal implicit times. Developmental emmetropization occurs in the albino chick but is impaired, likely because of functional abnormalities in the RPE and/or retina as well as optical factors. In very young chicks the underlying genetic mutation may also contribute to refractive error and eye shape abnormalities.

  14. WHO Parents Skills Training (PST) programme for children with developmental disorders and delays delivered by Family Volunteers in rural Pakistan: study protocol for effectiveness implementation hybrid cluster randomized controlled trial.

    Science.gov (United States)

    Hamdani, S U; Akhtar, P; Zill-E-Huma; Nazir, H; Minhas, F A; Sikander, S; Wang, D; Servilli, C; Rahman, A

    2017-01-01

    Development disorders and delays are recognised as a public health priority and included in the WHO mental health gap action programme (mhGAP). Parents Skills Training (PST) is recommended as a key intervention for such conditions under the WHO mhGAP intervention guide. However, sustainable and scalable delivery of such evidence based interventions remains a challenge. This study aims to evaluate the effectiveness and scaled-up implementation of locally adapted WHO PST programme delivered by family volunteers in rural Pakistan. The study is a two arm single-blind effectiveness implementation-hybrid cluster randomised controlled trial. WHO PST programme will be delivered by 'family volunteers' to the caregivers of children with developmental disorders and delays in community-based settings. The intervention consists of the WHO PST along with the WHO mhGAP intervention for developmental disorders adapted for delivery using the android application on a tablet device. A total of 540 parent-child dyads will be recruited from 30 clusters. The primary outcome is child's functioning, measured by WHO Disability Assessment Schedule - child version (WHODAS-Child) at 6 months post intervention. Secondary outcomes include children's social communication and joint engagement with their caregiver, social emotional well-being, parental health related quality of life, family empowerment and stigmatizing experiences. Mixed method will be used to collect data on implementation outcomes. Trial has been retrospectively registered at ClinicalTrials.gov (NCT02792894). This study addresses implementation challenges in the real world by incorporating evidence-based intervention strategies with social, technological and business innovations. If proven effective, the study will contribute to scaled-up implementation of evidence-based packages for public mental health in low resource settings. Registered with ClinicalTrials.gov as Family Networks (FaNs) for Children with Developmental

  15. Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay

    DEFF Research Database (Denmark)

    Maegawa, Gustavo H B; Poplawski, Nicola K; Andresen, Brage Storstein

    2008-01-01

    We report on a 6-year-old girl who presented at 6 months of age with seizures, delayed psychomotor development and mild facial dysmorphism. A small muscular ventricular septal defect was documented on echocardiogram and brain MRI showed a frontal brain anomaly. Urine organic acid analysis revealed......) missense mutation in exon 3; however, only the mother was found to be a carrier of this novel missense mutation. This finding along with non-regressive developmental delay prompted further karyotype and genomic investigations. An interstitial deletion of chromosome 1 was detected by repeat G-banding: 46,XX...... of interstitial deletions with breakpoints of 1p22 and 1p31/32, including the patient in this report, indicate a variable phenotype. Thus, although G-band breakpoints are similar, common breakpoints for these alterations are unlikely. This is the first report of a patient with fatty acid oxidation defect caused...

  16. Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expression.

    Science.gov (United States)

    Helle, Johan Robert; Barøy, Tuva; Misceo, Doriana; Braaten, Øivind; Fannemel, Madeleine; Frengen, Eirik

    2013-05-01

    The transcription factor SOX3 is widely expressed in early vertebrate brain development. In humans, duplication of SOX3 and polyalanine expansions at its C-terminus may cause intellectual disability and hypopituitarism. Sox3 knock-out mice show a variable phenotype including structural and functional anomalies affecting the branchial arches and midline cerebral structures such as the optic chiasm and the hypothalamo-pituitary axis. SOX3 is claimed to be required in normal brain development and function in mice and humans, as well as in pituitary and craniofacial development. We report on an 8-year-old boy with a 2.1 Mb deletion in Xq27.1q27.2, which was found to be inherited from his healthy mother. To our knowledge, this is the smallest deletion including the entire SOX3 gene in a male reported to date. He is mildly intellectually disabled with language delay, dysarthria, behavior problems, minor facial anomalies, and hyperphagia. Hormone levels including growth, adrenocorticotropic and thyroid stimulating hormones are normal. Magnetic resonance imaging (MRI) at age 6 years showed no obvious brain anomalies. Genetic redundancy between the three members of the B1 subfamily of SOX proteins during early human brain development likely explains the apparently normal development of brain structures in our patient who is nullisomic for SOX3. Copyright © 2012 Wiley Periodicals, Inc.

  17. Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation

    Directory of Open Access Journals (Sweden)

    Erin Conboy

    2017-01-01

    Full Text Available ACTB encodes the β-actin, and pathogenic variations in this gene have typically been associated with Baraitser-Winter cerebrofrontofacial syndrome, a congenital malformation syndrome characterized by short stature, craniofacial anomalies, and cerebral anomalies. Here, we describe the third case with the p.Arg183Trp variant in ACTB causing juvenile-onset dystonia. Our patient has severe, intractable dystonia, developmental delay, and sensorineural hearing loss, besides hyperintensities in the caudate nuclei and putamen on the brain MRI, which is a distinct but overlapping phenotype with the previously reported case of identical twins with the same alteration in ACTB.

  18. How do children with autism spectrum disorders express pain? A comparison with developmentally delayed and typically developing children.

    Science.gov (United States)

    Rattaz, Cécile; Dubois, Amandine; Michelon, Cécile; Viellard, Marine; Poinso, François; Baghdadli, Amaria

    2013-10-01

    There is a lack of knowledge about pain reactions in children with autism spectrum disorders (ASD), who have often been considered as insensitive to pain. The objective of this study was to describe the facial, behavioral and physiological reactions of children with ASD during venipuncture and to compare them to the reactions of children with an intellectual disability and nonimpaired control children. We also examined the relation between developmental age and pain reactions. The sample included 35 children with ASD, 32 children with an intellectual disability, and 36 nonimpaired children. The children were videotaped during venipuncture and their heart rate was recorded. Facial reactions were assessed using the Child Facial Coding System (CFCS) and behavioral reactions were scored using the Noncommunicating Children's Pain Checklist (NCCPC). A linear mixed-effects model showed that children's reactions increased between baseline and venipuncture and decreased between the end of venipuncture and the recovery period. There was no significant difference between groups regarding the amount of facial, behavioral and physiological reactions. However, behavioral reactions seemed to remain high in children with ASD after the end of the venipuncture, in contrast with children in the 2 other groups. Moreover, we observed a significant decrease in pain expression with age in nonimpaired children, but no such effect was found regarding children with ASD. The data reveal that children with ASD displayed a significant pain reaction in this situation and tend to recover more slowly after the painful experience. Improvement in pain assessment and management in this population is necessary. Copyright © 2013 International Association for the Study of Pain. Published by Elsevier B.V. All rights reserved.

  19. Menstrual and contraceptive issues among young women with developmental delay: a retrospective review of cases at the Hospital for Sick Children, Toronto.

    Science.gov (United States)

    Dizon, Christine D; Allen, Lisa M; Ornstein, Melanie P

    2005-06-01

    To define the clinical characteristics of, and management options offered to, young women with developmental delay referred to The Hospital for Sick Children gynecology clinic in Toronto for menstrual suppression and contraception. To review the primary caregiver concerns and preferences with regards to menstruation and contraception. A retrospective chart review of hospital records of young women with developmental delay referred to the gynecology clinic at The Hospital for Sick Children, Toronto from 1998 to 2003. A total of 72 charts were reviewed from clinic visits between 1998 to 2003. Ages range from 8 to 17 years with an unknown cause of their cognitive disability in 44% and medium to high support needs in the majority. Forty-three percent were still premenarcheal when first brought to the gynecology clinic by their families or caregivers. The main reason for consult was menstrual-related in 90%, with concerns related to hygiene and problems coping. Caregivers often approach physicians for menstrual suppression prior to menarche with a primary concern of personal hygiene. Medical suppression of menstruation can be successfully achieved. Depo-Provera was the most commonly prescribed and accepted method of menstrual suppression within our population.

  20. Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay.

    Science.gov (United States)

    Bartsch, Ingrid; Sandrock, Kirstin; Lanza, Francois; Nurden, Paquita; Hainmann, Ina; Pavlova, Anna; Greinacher, Andreas; Tacke, Uta; Barth, Michael; Busse, Anja; Oldenburg, Johannes; Bommer, Martin; Strahm, Brigitte; Superti-Furga, Andrea; Zieger, Barbara

    2011-09-01

    The bleeding disorder Bernard-Soulier syndrome (BSS) is caused by mutations in the genes coding for the platelet glycoprotein GPIb/IX receptor. The septin SEPT5 is important for active membrane movement such as vesicle trafficking and exocytosis in non-dividing cells (i.e. platelets, neurons). We report on a four-year-old boy with a homozygous deletion comprising not only glycoprotein Ibβ (GP1BB) but also the SEPT5 gene, located 5' to GP1BB. He presented with BSS, cortical dysplasia (polymicrogyria), developmental delay, and platelet secretion defect. The homozygous deletion of GP1BB and SEPT5, which had been identified by PCR analyses, was confirmed by Southern analyses and denaturing HPLC (DHPLC). The parents were heterozygous for this deletion. Absence of GPIbβ and SEPT5 proteins in the patient's platelets was illustrated using transmission electron microscopy. Besides decreased GPIb/IX expression, flow cytometry analyses revealed impaired platelet granule secretion. Because the bleeding disorder was extremely severe, the boy received bone marrow transplantation (BMT) from a HLA-identical unrelated donor. After successful engraftment of BMT, he had no more bleeding episodes. Interestingly, also his mental development improved strikingly after BMT. This report describes for the first time a patient with SEPT5 deficiency presenting with cortical dysplasia (polymicrogyria), developmental delay, and platelet secretion defect.

  1. Cognitive-Behavioral Treatment for Specific Phobias with a Child Demonstrating Severe Problem Behavior and Developmental Delays

    Science.gov (United States)

    Davis, Thompson E., III; Kurtz, Patricia F.; Gardner, Andrew W.; Carman, Nicole B.

    2007-01-01

    Cognitive-behavioral treatments (CBTs) are widely used for anxiety disorders in typically developing children; however, there has been no previous attempt to administer CBT for specific phobia (in this case study, one-session treatment) to developmentally or intellectually disabled children. This case study integrates both cognitive-behavioral and…

  2. Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations.

    Science.gov (United States)

    O'Byrne, J J; Lynch, S A; Treacy, E P; King, M D; Betts, D R; Mayne, P D; Sharif, F

    2016-02-01

    Investigation of patients, particularly children, with unexplained global developmental delay (GDD)/learning disability (LD) has been challenging due to a lack of clear guidance from specialised centres. Limited knowledge of rare diseases and a poor understanding of the purpose or limitations of appropriate investigations have been some of the principal reasons for this difficulty. A guideline development group was formed to recommend on appropriate, first line metabolic, genetic and radiological investigations for children and adults with unexplained GDD/ID. A comprehensive literature search was conducted, evaluated and reviewed by the guideline committee and a best practice protocol for first line assessment and genetic, metabolic and radiological investigations was decided upon after considering diagnostic yield, practicality, treatability and costs. It is hoped that these recommendations will become national guidelines for the first line metabolic, genetic and radiological investigation of patients presenting with unexplained GDD/ID.

  3. Mindfulness-based stress reduction for parents of young children with developmental delays: implications for parental mental health and child behavior problems.

    Science.gov (United States)

    Neece, Cameron L

    2014-03-01

    Parents of children with developmental delays (DD) typically report elevated levels of parental stress compared with parents of typically developing children. Children with DD are also at high risk for exhibiting significant behaviour problems. Parental stress has been shown to impact the development of these behaviour problems; however, it is rarely addressed in interventions aimed at reducing child behaviour problems. The current study examined the efficacy of mindfulness-based stress reduction (MBSR) for parents of children with DD by investigating whether this intervention is effective in reducing parenting stress and whether decreases in parenting stress lead to reductions in behaviour problems among children with DD. Forty six parents of children with DD were randomly assigned to an immediate treatment or wait list-control group. Participants completed questionnaires assessing parental stress and child behaviour problems at intake and at a second assessment, which took place after only the immediate treatment group had received the MBSR. Parents who participated in MBSR reported significantly less stress and depression as well as greater life satisfaction compared with wait list-control parents. Regarding child outcomes, children whose parents participated in MBSR were reported to have fewer behaviour problems following the intervention, specifically in the areas of attention problems and ADHD symptomatology. Results indicated that MBSR may be an effective intervention for ameliorating parental stress and mental health problems among parents of children with DD. Additionally, these benefits may 'spill over' and improve behaviour challenges among these children. © 2013 John Wiley & Sons Ltd.

  4. A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features

    Directory of Open Access Journals (Sweden)

    Adrian Mc Cormack

    2014-01-01

    Full Text Available Concurrent cryptic microdeletion and microduplication syndromes have recently started to reveal themselves with the advent of microarray technology. Analysis has shown that low-copy repeats (LCRs have allowed chromosome regions throughout the genome to become hotspots for nonallelic homologous recombination to take place. Here, we report a case of a 7.5-year-old girl who manifests microcephaly, developmental delay, and mild dysmorphic features. Microarray analysis identified a microduplication in chromosome 17q21.31, which encompasses the CRHR1, MAPT, and KANSL1 genes, as well as a microdeletion in chromosome 7q31.33 that is localised within the GRM8 gene. To our knowledge this is one of only a few cases of 17q21.31 microduplication. The clinical phenotype of patients with this microduplication is milder than of those carrying the reciprocal microdeletions, and suggests that the lower incidence of the former compared to the latter may be due to underascertainment.

  5. Comparing the Effects of Speech-Generating Device Display Organization on Symbol Comprehension and Use by Three Children With Developmental Delays.

    Science.gov (United States)

    Barton-Hulsey, Andrea; Wegner, Jane; Brady, Nancy C; Bunce, Betty H; Sevcik, Rose A

    2017-05-17

    Three children ages 3;6 to 5;3 with developmental and language delays were provided experience with a traditional grid-based display and a contextually organized visual scene display on a speech-generating device to illustrate considerations for practice and future research in augmentative and alternative communication assessment and intervention. Twelve symbols were taught in a grid display and visual scene display using aided input during dramatic play routines. Teaching sessions were 30 minutes a day, 5 days a week for 3 weeks. Symbol comprehension and use was assessed pre and post 3 weeks of experience. Comprehension of symbol vocabulary on both displays increased after 3 weeks of experience. Participants 1 and 2 used both displays largely for initiation. Participant 3 had limited expressive use of either display. The methods used in this study demonstrate one way to inform individual differences in learning and preference for speech-generating device displays when making clinical decisions regarding augmentative and alternative communication supports for a child and their family. Future research should systematically examine the role of extant comprehension, symbol experience, functional communication needs, and the role of vocabulary type in the learning and use of grid displays versus visual scene displays.

  6. Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay: Frequency estimation & clinical correlation using fluorescence in situ hybridization (FISH

    Directory of Open Access Journals (Sweden)

    Shruthi Mohan

    2016-01-01

    Full Text Available Background & objectives: Subtelomeres are prone to deleterious rearrangements owing to their proximity to unique sequences on the one end and telomeric repetitive sequences, which increase their tendency to recombine, on the other end. These subtelomeric rearrangements resulting in segmental aneusomy are reported to contribute to the aetiology of idiopathic intellectual disability/developmental delay (ID/DD. We undertook this study to estimate the frequency of subtelomeric rearrangements in children with ID/DD. Methods: One hundred and twenty seven children with idiopathic ID/DD were tested for subtelomeric rearrangements using karyotyping and FISH. Blood samples were cultured, harvested, fixed and GTG-banded using the standard protocols. Results: Rearrangements involving the subtelomeres were observed in 7.8 per cent of the tested samples. Detection of rearrangements visible at the resolution of the karyotype constituted 2.3 per cent, while those rearrangements detected only with FISH constituted 5.5 per cent. Five deletions and five unbalanced translocations were detected. Analysis of parental samples wherever possible was informative regarding the inheritance of the rearrangement. Interpretation & conclusions: The frequency of subtelomeric rearrangements observed in this study was within the reported range of 0-35 per cent. All abnormal genotypes were clinically correlated. Further analysis with array technologies presents a future prospect. Our results suggest the need to test individuals with ID/DD for subtelomeric rearrangements using sensitive methods such as FISH.

  7. [17p13.3 duplication as a cause of psychomotor developmental delay in an infant - a further case of a new syndrome].

    Science.gov (United States)

    Przybylska-Kruszewska, Amanda; Kutkowska-Kaźmierczak, Anna; Krzywdzińska, Amanda; Smyk, Marta; Nowakowska, Beata; Gryglicka, Halina; Obersztyn, Ewa; Hozyasz, Kamil K

    2016-04-01

    17p13.3 duplication is a rare and heterogeneous genetic syndrome. Microdeletions of this region are responsible for the symptoms of Miller-Dieker syndrome. We present a case of 17p13.3 duplication consisting of about 730kb in a patient with psychomotor developmental delay, concerning eye-hand coordination, posture, locomotion and speech. Among other symptoms, we found excessive physical development in relation to age, hypotonia, dysmorphic facial features (high and prominent forehead, low-set ears, hypertelorism, short nose, small upturned nose, narrow lips and pointed chin) and discrete changes in the CNS - enhanced frontal horns of the lateral ventricles and quite narrow corpus callosum. These symptoms overlap with phenotype of previously described patients with 17p13.3 duplication. The aberration has been identified by array comparative genomic hybridization (aCGH) and confirmed by fluorescence in situ hybridization (FISH). This publication presents a detailed, comparative characteristic of clinical fetures expression in discussed patient with 17p13.3 duplication and patients previously described in medical literature. Further cases with different variants of 17p13.3 duplication may contribute to characterise the specific genotypephenotype correlation. © 2016 MEDPRESS.

  8. Family Needs and Family Quality of Life for Taiwanese Families of Children with Intellectual Disability and Developmental Delay

    Science.gov (United States)

    Chiu, Chun-Yu

    2013-01-01

    This dissertation consists of four related chapters including an introductory overview of all four chapters, a report on family needs, a report on family quality of life, and a summary of implications for the conceptual framework. Chapter 1, the introductory overview, presents background information of Taiwan and describes the family quality of…

  9. Engaging Pediatricians in Developmental Screening: The Effectiveness of Academic Detailing

    Science.gov (United States)

    Honigfeld, Lisa; Chandhok, Laura; Spiegelman, Kenneth

    2012-01-01

    Use of formal developmental screening tools in the pediatric medical home improves early identification of children with developmental delays and disorders, including Autism Spectrum Disorders. A pilot study evaluated the impact of an academic detailing module in which trainers visited 43 pediatric primary care practices to provide education about…

  10. Array-based DNA methylation analysis in individuals with developmental delay/intellectual disability and normal molecular karyotype.

    Science.gov (United States)

    Kolarova, Julia; Tangen, Imke; Bens, Susanne; Gillessen-Kaesbach, Gabriele; Gutwein, Jana; Kautza, Monika; Rydzanicz, Malgorzata; Stephani, Ulrich; Siebert, Reiner; Ammerpohl, Ole; Caliebe, Almuth

    2015-08-01

    Despite recent progress in molecular karyotyping and clinical sequencing the cause of intellectual disability in a considerable subset of individuals affected by this phenotype remains elusive. As intellectual disability is also a feature of various imprinting disorders and some monogenic forms of intellectual disability are caused by epigenetic modifiers we hypothesized that changes in DNA methylation might be associated with or even causative in some cases of intellectual disability. Therefore, we performed a DNA methylation analysis of peripheral blood samples from 82 patients with intellectual disability and additional features using the HumanMethylation450 BeadChip. The findings were compared to that of 19 normal controls. Differentially methylated loci were validated by bisulfite pyrosequencing. On a global level, we failed to detect a robust DNA methylation signature segregating individuals with intellectual disability from controls. Using an individual approach, we identified 157 regions showing individual DNA methylation changes in at least one patient. These correlated to 107 genes including genes linked to conditions associated with intellectual disability, namely COLEC11, SHANK2, GLI2 and KCNQ2, as well as imprinted genes like FAM50B and MEG3. The latter was suggestive of an undiagnosed Temple syndrome which could be confirmed by diagnostic tests. Subsequent in-depth analysis of imprinted loci revealed DNA methylation changes at additional imprinted loci, i.e. PPIEL, IGF2R, MEG8 and MCTS2/HM13, in up to five patients. Our findings indicate that imprinting disorders are rare but probably under-diagnosed in patients with intellectual disability and moreover point to DNA methylation changes as potential alternative means to identify deregulated genes involved in the pathogenesis of intellectual disability. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  11. The Mandarin Chinese version of the Beach Centre Family Quality of Life Scale: development and psychometric properties in Taiwanese families of children with developmental delay.

    Science.gov (United States)

    Chiu, S-J; Chen, P-T; Chou, Y-T; Chien, L-Y

    2017-04-01

    Early intervention (EI) practitioners provide individualised family-centred services to enhance the quality of life (QOL) of families of children with developmental delay (DD). Family QOL (FQOL) could be an important outcome indictor for EI, but there is no measurement tool for FQOL in Mandarin Chinese. The purpose of this study was to translate the Beach Centre FQOL Scale (BCFQOL) into Mandarin Chinese and to examine the psychometric properties of the scale in families of children with DD. Two independent translations were performed by two bilingual professors whose mother tongue was Mandarin, and two back-translations were performed by two bilingual professionals whose mother tongue was English. The translated and back-translated questionnaires were reviewed to revise the questionnaire. Five experts assessed the accuracy, equivalence and cultural appropriateness of the scale, and 10 parents of children with DD were interviewed to examine its readability, clarity and cultural appropriateness. From July to November 2014, we recruited 360 primary caregivers of children with DD who were receiving EI in northern Taiwan to validate the scale. The participants completed the BCFQOL as well as a one item overall ratings of their FQOL. Item analysis was performed to assess each item. Confirmatory factor analysis supported the following five-factor structure as in the original scale: family interaction, parenting, emotional well-being, physical/material well-being and disability-related support. The scale exhibited excellent internal consistency reliability (Cronbach's alpha = 0.96) and test-retest reliability at a 2-week interval (intra-class correlation coefficient = 0.92). Contrasted group validity was supported by significantly higher BCFQOL scores in the top quartile of the overall FQOL rating than the lowest quartile. The convergent validity was supported by the significant correlation between the FQOL item and the BCFQOL (r = 0.608, p families of children with

  12. Deletion of exon 20 of the Familial Dysautonomia gene Ikbkap in mice causes developmental delay, cardiovascular defects, and early embryonic lethality.

    Directory of Open Access Journals (Sweden)

    Paula Dietrich

    Full Text Available Familial Dysautonomia (FD is an autosomal recessive disorder that affects 1/3,600 live births in the Ashkenazi Jewish population, and leads to death before the age of 40. The disease is characterized by abnormal development and progressive degeneration of the sensory and autonomic nervous system. A single base pair substitution in intron 20 of the Ikbkap gene accounts for 98% of FD cases, and results in the expression of low levels of the full-length mRNA with simultaneous expression of an aberrantly spliced mRNA in which exon 20 is missing. To date, there is no animal model for the disease, and the essential cellular functions of IKAP--the protein encoded by Ikbkap--remain unknown. To better understand the normal function of IKAP and in an effort to generate a mouse model for FD, we have targeted the mouse Ikbkap gene by homologous recombination. We created two distinct alleles that result in either loss of Ikbkap expression, or expression of an mRNA lacking only exon 20. Homozygosity for either mutation leads to developmental delay, cardiovascular and brain malformations, accompanied with early embryonic lethality. Our analyses indicate that IKAP is essential for expression of specific genes involved in cardiac morphogenesis, and that cardiac failure is the likely cause of abnormal vascular development and embryonic lethality. Our results also indicate that deletion of exon 20 abolishes gene function. This implies that the truncated IKAP protein expressed in FD patients does not retain any significant biological function.

  13. Accuracy of the Alberta Infant Motor Scale (AIMS) to detect developmental delay of gross motor skills in preterm infants: a systematic review.

    Science.gov (United States)

    de Albuquerque, Plínio Luna; Lemos, Andrea; Guerra, Miriam Queiroz de Farias; Eickmann, Sophie Helena

    2015-02-01

    To assess, through a systematic review, the ability of Alberta Infant Motor Scale (AIMS) to diagnose delayed motor development in preterm infants. Systematic searches identified five studies meeting inclusion criteria. These studies were evaluated in terms of: participants' characteristics, main results and risk of bias. The risk of bias was assessed with the Quality Assessment of Diagnostic Accuracy Studies--second edition (QUADAS-2). All five studies included a high risk of bias in at least one of the assessed fields. The most frequent biases included were presented in patient selection and lost follow up. All studies used the Pearson correlation coefficient to assess the diagnostic capability of the Alberta Infant Motor Scale. None of the assessed studies used psychometric measures to analyze the data. Given the evidence, the research supporting the ability of Alberta Infant Motor Scale to diagnose delayed motor development in preterm infants presents limitations. Further studies are suggested in order to avoid the above-mentioned biases to assess the Alberta Infant Motor Scale accuracy in preterm babies.

  14. CDC Kerala 15: Developmental Evaluation Clinic (2-10 y)--developmental diagnosis and use of home intervention package.

    Science.gov (United States)

    Nair, M K C; Lakshmi, M A; Latha, S; Lakshmi, Geetha; Harikumaran Nair, G S; Bhaskaran, Deepa; George, Babu; Leena, M L; Russell, Paul Swamidhas Sudhakar

    2014-12-01

    To describe the last 5 years' experience of Child Development Centre (CDC), Kerala Developmental Evaluation Clinic II for children between 2 and 10 y, referred for suspicion of developmental lag in the preschool years and scholastic difficulty in the primary classes with specific focus on developmental profile and the experience of the home based intervention package taught to the mothers. A team of evaluators including developmental therapist, preschool teacher with special training in clinical child development, speech therapist, special educator, clinical psychologist and developmental pediatrician assessed all the children referred to CDC Kerala. Denver Developmental Screening Test (DDST-II), Vineland Social Maturity Scale (VSMS) and Intelligent Quotient (IQ) tests were administered to all children below 6 y and those above 6 with apparent developmental delay. Speech/delay (35.9%), behavior problem (15.4%), global delay/ intellectual disability (15.4%), learning problem (10.9%), pervasive developmental disorders (7.7%), seizure disorder (1.7%), hearing impairment (0.7%), and visual impairment (0.7%) were the clinical diagnosis by a developmental pediatrician. Each child with developmental problem was offered a home based intervention package consisting of developmental therapy and special education items, appropriate to the clinical diagnosis of the individual child and the same was taught to the mother. The experience of conducting the developmental evaluation clinic for children between 2 and 10 y has shown that a team consisting of developmental therapist, speech therapist, preschool teacher, special educator, clinical child psychologist and developmental pediatrician, using appropriate test results of the child could make a clinical diagnosis good enough for providing early intervention therapy using a home based intervention package.

  15. The Domain of Developmental Psychopathology.

    Science.gov (United States)

    Sroufe, L. Alan; Rutter, Michael

    1984-01-01

    Describes how developmental psychopathology differs from related disciplines, including abnormal psychology, psychiatry, clinical child psychology, and developmental psychology. Points out propositions underlying a developmental perspective and discusses implications for research in developmental psychopathology. (Author/RH)

  16. PREVALENCE OF REFRACTIVE ERROR, STRABISMUS AND AMBLYOPIA AMONG CHILDREN WITH NORMAL DEVELOPMENT OR GLOBAL DEVELOPMENTAL DELAY/INTELLECTUAL DISABILITY ATTENDING OPHTHALMOLOGY OPD AT KLES HOSPITAL, BELAGAVI- A RETROSPECTIVE STUDY

    Directory of Open Access Journals (Sweden)

    Smitha K. S

    2017-04-01

    Full Text Available BACKGROUND Global developmental delay/intellectual disability are on a rise in children in the present time. Ocular and visual anomalies are frequently associated with it of which refractive errors are the most frequent. This if goes unnoticed leads to strabismus and amblyopia. MATERIALS AND METHODS This study aims to assess the prevalence of refractive error, strabismus and amblyopia among children with normal development or global developmental delay/intellectual disability attending ophthalmology OPD at KLES Hospital, Belagavi. Case records of all 200 new patients less than or equal to 12 years of age group who attended KLES, Dr. Prabhakar Kore Hospital between January 2015 and December 2015 were retrospectively reviewed. RESULTS The male:female ratio was 1.22:1. Out of the total evaluated 200 cases, 130 cases were with normal development and 70 with GDD/ID. Refractive errors were 85%, whereas the cases of amblyopia was 45.50% and strabismus 39.50%. Amblyopia with refractive error having GDD/ID was stastically significant as compared to amblyopia with refractive error having normal development (p=0.001. CONCLUSION Refractive error was the most common ocular disorder seen. Refractive error with amblyopia is more in children with GDD/ID as compared to normal children. Owing to the high percentage of visual anomalies, ophthalmological referral becomes essential in children with developmental anomalies.

  17. Delayed Ejaculation

    Science.gov (United States)

    ... the penis Psychological causes of delayed ejaculation include: Depression, anxiety or other mental health conditions Relationship problems due to stress, poor communication or other concerns Anxiety about performance Poor body image Cultural or religious taboos Differences between the reality ...

  18. Exploring the motor development of young children with possible severe to profound cognitive and motor developmental delay by means of a questionnaire

    NARCIS (Netherlands)

    Schalen, Gertruud Henrike; van der Putten, Annette; Maes, Bea; Vlaskamp, Carla

    Aim: Early motor stimulation may be valuable for children with profound intellectual and multiple disabilities (PIMD), however limited knowledge of their typical motor developmental trajectory may be currently restraining the efficacy and specificity of this intervention. Research on young children

  19. Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

    DEFF Research Database (Denmark)

    Hardies, Katia; May, Patrick; Djémié, Tania

    2015-01-01

    We report two siblings with infantile onset seizures, severe developmental delay and spastic paraplegia, in whom whole-genome sequencing revealed compound heterozygous mutations in the AP4S1 gene, encoding the σ subunit of the adaptor protein complex 4 (AP-4). The effect of the predicted loss-of-...... in reported patients, highlighting that seizures are part of the clinical manifestation of the AP-4 deficiency syndrome. We also hypothesize that endosomal trafficking is a common theme between heritable spastic paraplegia and some inherited epilepsies....

  20. A protocol for ovulation delay in women who cannot use estrogen, including Jewish women with Niddah issues and a pilot study.

    Science.gov (United States)

    Rehany, Benjamin S; Dahan, Michael H

    2017-11-01

    Orthodox Jewish women abstain from sexual intercourse from the commencement of menstruation until seven days after the end of menstrual bleeding at which point they can immerse themselves in a ritual bath and recommence relations. For women who ovulate prior to commencing intercourse this results in religious infertility. The traditional treatment for religious infertility is oral estrogens in the early follicular phase to delay ovulation. However, certain groups of women have contraindications to oral estrogens. In this group, no treatment options have existed until now. In this study we proposed a treatment protocol substituting the use of gonadotropin releasing hormone-antagonists in the early follicular phase for the oral estrogens. In a small pilot study, we demonstrate that these two protocols have similar outcomes in terms of ovulation delay (p = 1.0) and likelihood of ongoing pregnancy (p = 1.0). This protocol for ovulation delay also has applications in non-Jewish women who need to delay ovulation due to life constraints.

  1. Prevalence and sociodemographic determinants of developmental ...

    African Journals Online (AJOL)

    Birth order and household size also had significant association with delay in various domains. There was no significant association between socioeconomic class and developmental delay in any of the domains. Conclusion: The study showed that developmental delay was relatively common among under-five children in ...

  2. Neurometabolic Diagnosis in Children who referred as Neurodevelopmental Delay (A Practical Criteria, in Iranian Pediatric Patients).

    Science.gov (United States)

    Karimzadeh, Parvaneh; Jafari, Narjes; Nejad Biglari, Habibeh; Jabbehdari, Sayena; Khayat Zadeh, Simin; Ahmad Abadi, Farzad; Lotfi, Azra

    2016-01-01

    We aimed to investigate the clinical and para clinical manifestations of neuro metabolic disorders, in patients who presented by neuro developmental delay in their neuro developmental milestones. The patients diagnosed as neuro developmental delay and regression with or without seizure at the Neurology Department of Mofid Children Hospital in Tehran, Iran between 2004 and 2014 were included in our study. These patients diagnosed as neuro developmental delay by pediatric neurologists in view of diagnostic /screening neuro developmental assessment tests. The patients who completed our inclusion criteria as neuro metabolic disorders were evaluated in terms of metabolic and genetic study in referral lab. Overall, 213 patients with neurometabolic disorders were diagnosed. 54.3% of patients were male. The average age of patients was 41 +-46.1 months. 71.4% of parent's patients had consanguinity of marriages. Eighty seven percent of patients had developmental delay (or/and) regression. 55.5% of them had different type of seizures. Overall, 213 patients with 34 different neurometabolic disorders were diagnosed and classified in the 7 sub classes, consisting of: 1- organic acidemia and aminoacidopathy (122 patients), 2-storage disease (37 patients) 3- eukodystrophy (27 patients), other classes consisted: lipid oxidation disorders, urea cycle disorders, progressive myoclonic epilepsy; and peroxizomal disorders (27 patients). In patients with developmental delay or regression, with or without seizure, abnormal neurologic exam along with positive family history of similar disorder or relative parents, abnormal brain imaging with specific patterns, neurometabolic disorders should be considered as one of the important treatable diseases.

  3. Kinetics of 3H-serotonin uptake by platelets in infantile autism and developmental language disorder (including five pairs of twins)

    International Nuclear Information System (INIS)

    Katsui, T.; Okuda, M.; Usuda, S.; Koizumi, T.

    1986-01-01

    The kinetics of 5-HT uptake by platelets was studied in cases of infantile autism and developmental language disorder (DLD) and normal subjects. Two patients of the autism group were twins, and the seven patients of the DLD group were members of four pairs of twins. The Vmax values (means +/- SD) for autism and DLD were 6.46 +/- .90 pmol 5-HT/10(7) cells/min and 4.85 +/- 1.50 pmol 5-HT/10(7) cells/min, respectively. These values were both significantly higher than that of 2.25 +/- .97 pmole 5-HT/10(7) cells/min for normal children. The Km values of the three groups were not significantly different. Data on the five pairs of twins examined suggested that the elevated Vmax of 5-HT uptake by platelets was determined genetically

  4. Kinetics of 3H-serotonin uptake by platelets in infantile autism and developmental language disorder (including five pairs of twins)

    Energy Technology Data Exchange (ETDEWEB)

    Katsui, T.; Okuda, M.; Usuda, S.; Koizumi, T.

    1986-03-01

    The kinetics of 5-HT uptake by platelets was studied in cases of infantile autism and developmental language disorder (DLD) and normal subjects. Two patients of the autism group were twins, and the seven patients of the DLD group were members of four pairs of twins. The Vmax values (means +/- SD) for autism and DLD were 6.46 +/- .90 pmol 5-HT/10(7) cells/min and 4.85 +/- 1.50 pmol 5-HT/10(7) cells/min, respectively. These values were both significantly higher than that of 2.25 +/- .97 pmole 5-HT/10(7) cells/min for normal children. The Km values of the three groups were not significantly different. Data on the five pairs of twins examined suggested that the elevated Vmax of 5-HT uptake by platelets was determined genetically.

  5. A mitochondrial tRNA(Met) mutation causing developmental delay, exercise intolerance and limb girdle phenotype with onset in early childhood

    DEFF Research Database (Denmark)

    Born, Alfred Peter; Duno, Morten; Rafiq, Jabin

    2015-01-01

    A 10-year-old girl presented with exercise intolerance, learning difficulty, and muscle weakness in a limb girdle distribution. She had delayed achievement of motor milestones and difficulties with social interaction at pre-school age. Muscle biopsy showed no myopathic or dystrophic features......DNA extracted from muscle and skin fibroblast, and could not be found in other tissues or in the mother. This is the second patient reported in the literature with a mitochondrial myopathy due to a mt-tRNA(Met) mutation. The first patient, a 30-year-old woman, presented with exercise intolerance, limb girdle...

  6. Developmental screening: predictors of follow-up adherence in ...

    African Journals Online (AJOL)

    Abstract. Background: The importance of early identification for infants and young children with developmental delays is well estab- lished. Poor follow-up on referrals, however, undermines the effectiveness of early intervention programmes. Objectives: To identify factors, including text message reminders, that influence ...

  7. Mnemonic abilities of primary school children with delayed mental development.

    Directory of Open Access Journals (Sweden)

    Murafa S.V.

    2015-07-01

    Full Text Available This paper presents the results of research regarding the mnemonic abilities of primary school children with developmental delays. Empirical studies of impaired mental development offer an opportunity to elucidate the psychological mechanisms underlying the process of normal development and enable us to consider at a micro level the formation of mental processes in ontogeny, which would, under normal conditions, be nondescript and not always amenable to psychological analysis. The research addresses an experimental investigation of productivity and qualitative characteristics of mnemonic abilities among primary school students with developmental delays. V.D. Shadrikov’s Theory of Abilities, developed in a systemic approach framework, is the theoretical basis of the research. The method of deploying a memorization activity, as elaborated by V.D. Shadrikov and L.V. Cheremoshkina, was the investigation tool used. The sample included students in grades 1 to 4 between ages 7 to 12 and included a total of 100 children (66 boys and 34 girls. The control group of primary school students with typical development included 105 children (50 boys and 55 girls. The research consisted of several stages: a pilot study, experimental research (the test task was to memorize card #1; the basic task was to memorize cards #2 and #3; to reproduce cards #2 and #3; and to poll the students, mathematical data processing, and a description of the levels of mnemonic ability development among primary students with developmental delays. The following procedures were employed during statistical analysis: Spearman r3, Mann-Whitney U-test, Jonckheere-Terpstra test, and Kruskal-Wallis test. The structure of mnemonic abilities in primary schoolchildren with developmental delays was determined to vary according to the underdevelopment of their operational mechanisms. For example, memory functions are based on the use of inborn mechanisms, and a portion of children differ in the

  8. Traumatic Brain Injury and Delayed Sequelae: A Review - Traumatic Brain Injury and Mild Traumatic Brain Injury (Concussion are Precursors to Later-Onset Brain Disorders, Including Early-Onset Dementia

    Directory of Open Access Journals (Sweden)

    Michael A. Kiraly

    2007-01-01

    Full Text Available Brain injuries are too common. Most people are unaware of the incidence of and horrendous consequences of traumatic brain injury (TBI and mild traumatic brain injury (MTBI. Research and the advent of sophisticated imaging have led to progression in the understanding of brain pathophysiology following TBI. Seminal evidence from animal and human experiments demonstrate links between TBI and the subsequent onset of premature, psychiatric syndromes and neurodegenerative diseases, including Alzheimer's disease (AD and Parkinson's disease (PD. Objectives of this summary are, therefore, to instill appreciation regarding the importance of brain injury prevention, diagnosis, and treatment, and to increase awareness regarding the long-term delayed consequences following TBI.

  9. International adoption: a health and developmental prospective.

    Science.gov (United States)

    Mason, Patrick; Narad, Christine

    2005-02-01

    Adoptions from international countries have become an option for many US families, with over 150,000 children adopted in the past 14 years. Typically, internationally adopted children present with a host of medical and developmental concerns. Issues such as growth stunting, abnormal behaviors, and significant delays in motor, speech, and language development are likely directly related to the prenatal and early postnatal environment experienced prior to adoption. The new family and its health-care team must quickly work to identify and address these issues to aid the child's integration into his or her new family. This article will examine potential issues seen in children who are being adopted, including the impact of early environment on subsequent development. We will summarize early and long-term medical issues and review the extent of developmental delays seen in children adopted internationally. Finally, we will discuss possible mechanisms leading to the observed delays, including the impact of stress on subsequent development. By understanding the extent of expected delays and the mechanisms likely causing the issues, the health-care team will be in a good position to quickly identify and develop intervention protocols that will foster the child's assimilation into his or her new family.

  10. 9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features.

    Science.gov (United States)

    Sismani, Carolina; Anastasiadou, Violetta; Kousoulidou, Ludmila; Parkel, Sven; Koumbaris, George; Zilina, Olga; Bashiardes, Stavros; Spanou, Elena; Kurg, Ants; Patsalis, Philippos C

    2011-01-01

    We report on a family with syndromic X-linked mental retardation (XLMR) caused by an Xp22.2-22.13 duplication. This family consists of a carrier mother and daughter and four affected sons, presenting with mental retardation, developmental delay, cardiovascular problems and mild dysmorphic facial features. Female carriers have normal intelligence and some common clinical features, as well as different clinical abnormalities. Cytogenetic analysis of the mother showed an Xp22.2 duplication which was passed to all her offspring. Fluorescence In Situ Hybridization (FISH) using whole chromosome paint and Bacterial Artificial Chromosome (BAC) clones covering Xp22.12-Xp22.3 region, confirmed the X chromosome origin and the size of the duplication. Two different targeted microarray methodologies were used for breakpoint confirmation, resulting in the localization of the duplication to approximately 9.75-18.98 Mb. Detailed description of such rare duplications provides valuable data for the investigation of genetic disease etiology. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  11. Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

    Science.gov (United States)

    Hardies, Katia; May, Patrick; Djémié, Tania; Tarta-Arsene, Oana; Deconinck, Tine; Craiu, Dana; Helbig, Ingo; Suls, Arvid; Balling, Rudy; Weckhuysen, Sarah; De Jonghe, Peter; Hirst, Jennifer; Afawi, Zaid; Barisic, Nina; Baulac, Stéphanie; Caglayan, Hande; Depienne, Christel; De Kovel, Carolien G.F.; Dimova, Petia; Guerrero-López, Rosa; Guerrini, Renzo; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Jahn, Johanna; Klein, Karl Martin; Koeleman, Bobby P.C.; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes; Lerche, Holger; Marini, Carla; Muhle, Hiltrud; Rosenow, Felix; Serratosa, Jose M.; Møller, Rikke S.; Stephani, Ulrich; Striano, Pasquale; Talvik, Tiina; Von Spiczak, Sarah; Weber, Yvonne; Zara, Federico

    2015-01-01

    We report two siblings with infantile onset seizures, severe developmental delay and spastic paraplegia, in whom whole-genome sequencing revealed compound heterozygous mutations in the AP4S1 gene, encoding the σ subunit of the adaptor protein complex 4 (AP-4). The effect of the predicted loss-of-function variants (p.Gln46Profs*9 and p.Arg97*) was further investigated in a patient's fibroblast cell line. We show that the premature stop mutations in AP4S1 result in a reduction of all AP-4 subunits and loss of AP-4 complex assembly. Recruitment of the AP-4 accessory protein tepsin, to the membrane was also abolished. In retrospect, the clinical phenotype in the family is consistent with previous reports of the AP-4 deficiency syndrome. Our study reports the second family with mutations in AP4S1 and describes the first two patients with loss of AP4S1 and seizures. We further discuss seizure phenotypes in reported patients, highlighting that seizures are part of the clinical manifestation of the AP-4 deficiency syndrome. We also hypothesize that endosomal trafficking is a common theme between heritable spastic paraplegia and some inherited epilepsies. PMID:25552650

  12. Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2

    Directory of Open Access Journals (Sweden)

    Peters Sarika U

    2006-02-01

    Full Text Available Abstract Background Deletion of 15q21q22 is a rare chromosomal anomaly. To date, there have been nine reports describing ten individuals with different segmental losses involving 15q21 and 15q22. Many of these individuals have common features of growth retardation, hypotonia and moderate to severe mental retardation. Congenital heart disease has been described in three individuals with interstitial deletion involving this region of chromosome 15. Case presentation We report a child with coarctation of the aorta, partial agenesis of corpus callosum and mild to moderate developmental delay, with a de novo deletion of 15q21.1q22.2, detected by the array Comparative Genomic Hybridization (CGH. We utilized chromosome 15-specific microarray-based CGH to define the chromosomal breakpoints in this patient. Conclusion This is the first description of mapping of an interstitial deletion involving the chromosome 15q21q22 segment using the chromosome 15-specific array-CGH. The report also expands the spectrum of clinical phenotype associated with 15q21q22 deletion.

  13. Developmental variations in environmental influences including endocrine disruptors on pubertal timing and neuroendocrine control: Revision of human observations and mechanistic insight from rodents.

    Science.gov (United States)

    Parent, Anne-Simone; Franssen, Delphine; Fudvoye, Julie; Gérard, Arlette; Bourguignon, Jean-Pierre

    2015-07-01

    Puberty presents remarkable individual differences in timing reaching over 5 years in humans. We put emphasis on the two edges of the age distribution of pubertal signs in humans and point to an extended distribution towards earliness for initial pubertal stages and towards lateness for final pubertal stages. Such distortion of distribution is a recent phenomenon. This suggests changing environmental influences including the possible role of nutrition, stress and endocrine disruptors. Our ability to assess neuroendocrine effects and mechanisms is very limited in humans. Using the rodent as a model, we examine the impact of environmental factors on the individual variations in pubertal timing and the possible underlying mechanisms. The capacity of environmental factors to shape functioning of the neuroendocrine system is thought to be maximal during fetal and early postnatal life and possibly less important when approaching the time of onset of puberty. Copyright © 2014 Elsevier Inc. All rights reserved.

  14. Developmental Purposes of Commercial Games.

    Science.gov (United States)

    Practical Pointers, 1977

    1977-01-01

    Listed are 45 table, target, manipulative, active, and creative games with such developmental purposes as associative learning, tactile discrimination, and visual motor integration. Information includes the name of the item, distributor, price, description, and developmental purpose. (JYC)

  15. [Developmental sequel of prematurity].

    Science.gov (United States)

    Helwich, Ewa

    2003-01-01

    Severe developmental impairment in children born as extremly prematures include cerebral palsy, subnormal cognitive function, deafness and blindness. The rate of severe disabilities range from 5 to 30%. This article reviews what is known about early brain injury and its developmental sequel.

  16. Identification of a developmental gene expression signature, including HOX genes, for the normal human colonic crypt stem cell niche: overexpression of the signature parallels stem cell overpopulation during colon tumorigenesis.

    Science.gov (United States)

    Bhatlekar, Seema; Addya, Sankar; Salunek, Moreh; Orr, Christopher R; Surrey, Saul; McKenzie, Steven; Fields, Jeremy Z; Boman, Bruce M

    2014-01-15

    Our goal was to identify a unique gene expression signature for human colonic stem cells (SCs). Accordingly, we determined the gene expression pattern for a known SC-enriched region--the crypt bottom. Colonic crypts and isolated crypt subsections (top, middle, and bottom) were purified from fresh, normal, human, surgical specimens. We then used an innovative strategy that used two-color microarrays (∼18,500 genes) to compare gene expression in the crypt bottom with expression in the other crypt subsections (middle or top). Array results were validated by PCR and immunostaining. About 25% of genes analyzed were expressed in crypts: 88 preferentially in the bottom, 68 in the middle, and 131 in the top. Among genes upregulated in the bottom, ∼30% were classified as growth and/or developmental genes including several in the PI3 kinase pathway, a six-transmembrane protein STAMP1, and two homeobox (HOXA4, HOXD10) genes. qPCR and immunostaining validated that HOXA4 and HOXD10 are selectively expressed in the normal crypt bottom and are overexpressed in colon carcinomas (CRCs). Immunostaining showed that HOXA4 and HOXD10 are co-expressed with the SC markers CD166 and ALDH1 in cells at the normal crypt bottom, and the number of these co-expressing cells is increased in CRCs. Thus, our findings show that these two HOX genes are selectively expressed in colonic SCs and that HOX overexpression in CRCs parallels the SC overpopulation that occurs during CRC development. Our study suggests that developmental genes play key roles in the maintenance of normal SCs and crypt renewal, and contribute to the SC overpopulation that drives colon tumorigenesis.

  17. Delayed Puberty

    DEFF Research Database (Denmark)

    Kolby, Nanna; Busch, Alexander Siegfried; Juul, Anders

    2017-01-01

    Delayed puberty can be a source of great concern and anxiety, although it usually is caused by a self-limiting variant of the normal physiological timing named constitutional delay of growth and puberty (CDGP). Delayed puberty can, however, also be the first presentation of a permanent condition ...... mineral density) and psychological (e.g., low self-esteem) and underline the importance of careful clinical assessment of the patients....

  18. Developmental timing differences underlie armor loss across threespine stickleback populations.

    Science.gov (United States)

    Currey, Mark C; Bassham, Susan; Perry, Stephen; Cresko, William A

    2017-11-01

    Comparing ontogenetic patterns within a well-described evolutionary context aids in inferring mechanisms of change, including heterochronies or deletion of developmental pathways. Because selection acts on phenotypes throughout ontogeny, any within-taxon developmental variation has implications for evolvability. We compare ontogenetic order and timing of locomotion and defensive traits in three populations of threespine stickleback that have evolutionarily divergent adult forms. This analysis adds to the growing understanding of developmental genetic mechanisms of adaptive change in this evolutionary model species by delineating when chondrogenesis and osteogenesis in two derived populations begin to deviate from the developmental pattern in their immediate ancestors. We found that differences in adult defensive morphologies arise through abolished or delayed initiation of these traits rather than via an overall heterochronic shift, that intra-population ontogenetic variation is increased for some derived traits, and that altered armor developmental timing differentiates the derived populations from each other despite parallels in adult lateral plate armor phenotypes. We found that changes in ossified elements of the pelvic armor are linked to delayed and incomplete development of an early-forming pelvic cartilage, and that this disruption likely presages the variable pelvic vestiges documented in many derived populations. © 2017 Wiley Periodicals, Inc.

  19. Developmental differences in childhood motor coordination predict adult alcohol dependence

    DEFF Research Database (Denmark)

    Manzardo, Ann M; Penick, Elizabeth C; Knop, Joachim

    2005-01-01

    hypothesized that developmental deficits in the cerebellar vermis may also play a role in the initiation of adult alcohol dependence. The present study evaluated whether measures of motor development in the first year of life predict alcohol dependence three decades later. METHODS: A total of 241 subjects....... RESULTS: Several measures of childhood motor development significantly predicted alcohol dependence at 30 years of age. These included deficits in muscle tone 5 days after birth, delays in the age to sitting, and delays in the age to walking. CONCLUSIONS: Relationships found between adult alcoholism...

  20. The Presence of Word-Retrieval Deficits in Developmental Verbal Apraxia.

    Science.gov (United States)

    Hall, Penelope K.; And Others

    Five children, aged 7-10 years, exhibiting Developmental Verbal Apraxia (DVA) were evaluated to determine the presence of word-retrieval problems. DVA is a symptom cluster including at least some of 21 potential symptoms, such as delayed speech development and severe articulation disorder. The Boston Naming Test (a picture confrontation naming…

  1. Chronic Overeating without Obesity in Children with Developmental Disabilities: Description of a New Syndrome.

    Science.gov (United States)

    Ayoob, Keith-Thomas; And Others

    1994-01-01

    Thirteen children (ages 3.1 to 5.2 years) referred for developmental delay and excessive eating (without obesity) were evaluated. Commonalities included being in foster care, prenatal drug exposure, and abnormally withdrawn and/or aggressive behavior. (Author/DB)

  2. Co-occurrence of developmental and behavioural problems in moderate to late preterm-born children

    NARCIS (Netherlands)

    Potijk, Marieke R; de Winter, Andrea F; Bos, Arend F; Kerstjens, Jorien M; Reijneveld, Sijmen A

    Objective To determine the occurrence of emotional and behavioural problems (EBP) in moderate to late preterm (MLP) and full-term children with developmental delay. Design Participants were recruited from 13 randomly selected preventive child healthcare (PCH) centres in the Netherlands. We included

  3. Anatomy of the pectoral and forelimb muscles of wildtype and green fluorescent protein-transgenic axolotls and comparison with other tetrapods including humans: a basis for regenerative, evolutionary and developmental studies.

    Science.gov (United States)

    Diogo, R; Tanaka, E M

    2012-12-01

    The axolotl Ambystoma mexicanum is one of the most used model organisms in evolutionary, developmental and regenerative studies, particularly because it can reconstitute a fully functional and complete forelimb/hindlimb. Surprisingly, there is no publication that describes all the pectoral and forelimb muscles of this species or provides a comparative framework between these muscles and those of other model organisms and of modern humans. In the present paper we describe and illustrate all these muscles in A. mexicanum and provide the first report about the myology of adults of a model organism that is based on analyses and dissections of both wildtype animals and transgenic animals that express green fluorescent protein (GFP) in muscle fibers. On the one hand, the inclusion of GFP-transgenic animals allows us to show the muscles as more commonly seen, and thus easier to understand, by current developmental and regenerative biologists. On the other hand, by including wildtype and GFP-transgenic animals and by visualizing these latter animals with and without a simultaneous transmission laser light, we were able to obtain a more complete and clearer understanding of the exact limit of the fleshy and tendinous parts of the muscles and their specific connections with the skeletal elements. This in turn allowed us to settle some controversies in previous anatomical and comparative studies. As most developmental, regenerative and evolutionary biologists are interested in comparing their observations of A. mexicanum with observations in other model organisms, and ultimately in using this information to increase the understanding of human evolution and medicine, we also provide tables showing the homologies between the pectoral and forelimb muscles of axolotls, of model organisms such as mice, frogs and chicken, and of Homo sapiens. An example illustrating the outcomes of using our methodology and of our observations is that they revealed that, contrary to what is often

  4. Reproductive and developmental toxicology

    National Research Council Canada - National Science Library

    Gupta, Ramesh C

    2011-01-01

    .... With a special focus on placental toxicity, this book is the only available reference to connect the three key risk stages, and is the only resource to include reproductive and developmental toxicity in domestic animals, fish, and wildlife.

  5. Isolating the delay component of impulsive choice in adolescent rats

    Directory of Open Access Journals (Sweden)

    Jesse eMcClure

    2014-01-01

    Full Text Available Impulsive choice — the preference for small immediate rewards over larger delayed rewards — has been linked to various psychological conditions ranging from behavioral disorders to addiction. These links highlight the critical need to dissect the various components of this multifaceted behavioral trait. Delay discounting tasks allow researchers to study an important factor of this behavior: how the subjective value of a rewards changes over a delay period. However, existing methods of delay discounting include a confound of modifying reward sizes during the procedure. Here we present a new approach of using a single constant reward size to assess delay discounting. A complementary approach could hold delay constant and assess the utility of changing quantities of a reward. Isolating these behavioral components can advance our ability to explore the behavioral complexity of impulsive choice. We present the methods for isolating delay in detail, and further capitalize on this method by pairing it with a standard peak interval task to test whether individual variation in delay discounting can be explained by differences in perception of time in male and female adolescent rats. We find that rats that were more precise in discriminating time intervals were also less impulsive in their choice. Our data suggest that differences in timing and delay discounting are not causally related, but instead are more likely influenced by a common factor. Further, the mean-level change in our measure between postnatal day 28 and 42 suggests this test may be capturing a developmental change in this factor. In summary, this new method of isolating individual components of impulsive choice (delay or quantity can be efficiently applied in either adolescent or adult animal models and may help elucidate the mechanisms underlying impulsivity and its links to psychological disorders.

  6. Delayed Ejaculation

    Science.gov (United States)

    ... of stress Delayed ejaculation Symptoms & causes Diagnosis & treatment Advertisement Mayo Clinic does not endorse companies or products. ... a Job Site Map About This Site Twitter Facebook Google YouTube Pinterest Mayo Clinic is a not- ...

  7. Vehicle barrier with access delay

    Science.gov (United States)

    Swahlan, David J; Wilke, Jason

    2013-09-03

    An access delay vehicle barrier for stopping unauthorized entry into secure areas by a vehicle ramming attack includes access delay features for preventing and/or delaying an adversary from defeating or compromising the barrier. A horizontally deployed barrier member can include an exterior steel casing, an interior steel reinforcing member and access delay members disposed within the casing and between the casing and the interior reinforcing member. Access delay members can include wooden structural lumber, concrete and/or polymeric members that in combination with the exterior casing and interior reinforcing member act cooperatively to impair an adversarial attach by thermal, mechanical and/or explosive tools.

  8. Developmental plasticity

    Science.gov (United States)

    Lea, Amanda J; Tung, Jenny; Archie, Elizabeth A; Alberts, Susan C

    2017-01-01

    Abstract Early life experiences can have profound and persistent effects on traits expressed throughout the life course, with consequences for later life behavior, disease risk, and mortality rates. The shaping of later life traits by early life environments, known as ‘developmental plasticity’, has been well-documented in humans and non-human animals, and has consequently captured the attention of both evolutionary biologists and researchers studying human health. Importantly, the parallel significance of developmental plasticity across multiple fields presents a timely opportunity to build a comprehensive understanding of this phenomenon. We aim to facilitate this goal by highlighting key outstanding questions shared by both evolutionary and health researchers, and by identifying theory and empirical work from both research traditions that is designed to address these questions. Specifically, we focus on: (i) evolutionary explanations for developmental plasticity, (ii) the genetics of developmental plasticity and (iii) the molecular mechanisms that mediate developmental plasticity. In each section, we emphasize the conceptual gains in human health and evolutionary biology that would follow from filling current knowledge gaps using interdisciplinary approaches. We encourage researchers interested in developmental plasticity to evaluate their own work in light of research from diverse fields, with the ultimate goal of establishing a cross-disciplinary understanding of developmental plasticity. PMID:29424834

  9. Developmental trajectories of early communication skills.

    Science.gov (United States)

    Määttä, Sira; Laakso, Marja-Leena; Tolvanen, Asko; Ahonen, Timo; Aro, Tuija

    2012-08-01

    This study focused on developmental trajectories of prelinguistic communication skills and their connections to later parent-reported language difficulties. The participants represent a subset of a community-based sample of 508 children. Data include parent reports of prelinguistic communication skills at 12, 15, 18, and 21 months and language difficulties at age 4;7 (years;months). The authors used latent profile analysis to identify groups of children with differing developmental trajectories of prelinguistic communication skills ( n = 271). The relations among these groups and follow-up data of parent-reported concerns of language development ( n = 187), as well as the role of gender, were examined. Six meaningful prelinguistic communication groups were identified with the latent profile analysis, and these groups showed connections to later parent-reported concerns of language difficulties. Delayed early expressive language and a minor delay of overall performance, together with symbolic difficulties, appeared as predictors of later language difficulties. Nearly 80% of the children whose parents reported language-related concerns at the follow-up stage could already be identified before their 2nd birthday. The results support the potential of early screening in identifying children at risk of developing language difficulties, particularly when screening includes repeated surveillance of more than one area of communication skills.

  10. Developmental Work

    DEFF Research Database (Denmark)

    Møller, Niels; Hvid, Helge; Kristensen, Tage Søndergaard

    2003-01-01

    Human Deveoplment and Working Life - Work for Welfare explores whether the development of human resources at company level can improve individuals' quality of life, companies' possibilities of development, and welfare and democracy in society. Chapter two discuss the concept "developmental work...

  11. Transgenerational developmental programming.

    Science.gov (United States)

    Aiken, Catherine E; Ozanne, Susan E

    2014-01-01

    The concept of developmental programming suggests that the early life environment influences offspring characteristics in later life, including the propensity to develop diseases such as the metabolic syndrome. There is now growing evidence that the effects of developmental programming may also manifest in further generations without further suboptimal exposure. This review considers the evidence, primarily from rodent models, for effects persisting to subsequent generations, and evaluates the mechanisms by which developmental programming may be transmitted to further generations. In particular, we focus on the potential role of the intrauterine environment in contributing to a developmentally programmed phenotype in subsequent generations. The literature was systematically searched at http://pubmed.org and http://scholar.google.com to identify published findings regarding transgenerational (F2 and beyond) developmental programming effects in human populations and animal models. Transmission of programming effects is often viewed as a form of epigenetic inheritance, either via the maternal or paternal line. Evidence exists for both germline and somatic inheritance of epigenetic modifications which may be responsible for phenotypic changes in further generations. However, there is increasing evidence for the role of both extra-genomic components of the zygote and the interaction of the developing conceptus with the intrauterine environment in propagating programming effects. The contribution of a suboptimal reproductive tract environment or maternal adaptations to pregnancy may be critical to inheritance of programming effects via the maternal line. As the effects of age exacerbate the programmed metabolic phenotype, advancing maternal age may increase the likelihood of developmental programming effects being transmitted to further generations. We suggest that developmental programming effects could be propagated through the maternal line de novo in generations

  12. Identification of a rare de novo three-way complex t(5;20;8(q31;p11.2;p21 with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report

    Directory of Open Access Journals (Sweden)

    Bejjani Bassem A

    2009-01-01

    Full Text Available Abstract Background Complex chromosome rearrangements (CCRs, which involve more than two breakpoints on two or more chromosomes, are uncommon occurrences. Although most CCRs appear balanced at the level of the light microscope, many demonstrate cryptic, submicroscopic imbalances at the translocation breakpoints. Results We report a female with hearing loss and global developmental delay with a complex three-way unbalanced translocation (5;20;8(q31;p11.2;p21 resulting in microdeletions on 5q31.2, 5q31.3, and 8p23.2 identified by karyotyping, microarray analysis and fluorescence in situ hybridization. Discussion The microdeletion of bands 8p23.2 may be associated with the hearing impairment. Furthermore, the characterization of this patient's chromosomal abnormalities demonstrates the importance of integrated technologies within contemporary cytogenetics laboratories.

  13. Developmental Scaffolding

    DEFF Research Database (Denmark)

    Giorgi, Franco; Bruni, Luis Emilio

    2015-01-01

    . As this boundary is gradually defined during development, cells enter into new functional relationships, while, at the same time, are relieved from their physical determinism. The resulting constraints can thus become the driving forces that upgrade embryonic scaffolding from the simple molecular signalling...... to the complexity of sign recognition proper of a cellular community. In this semiotic perspective, the apparent goal directness of any developmental strategy should no longer be accounted for by a predetermined genetic program, but by the gradual definition of the relationships selected amongst the ones...

  14. Time Delay of CGM Sensors

    Science.gov (United States)

    Schmelzeisen-Redeker, Günther; Schoemaker, Michael; Kirchsteiger, Harald; Freckmann, Guido; Heinemann, Lutz; del Re, Luigi

    2015-01-01

    Background: Continuous glucose monitoring (CGM) is a powerful tool to support the optimization of glucose control of patients with diabetes. However, CGM systems measure glucose in interstitial fluid but not in blood. Rapid changes in one compartment are not accompanied by similar changes in the other, but follow with some delay. Such time delays hamper detection of, for example, hypoglycemic events. Our aim is to discuss the causes and extent of time delays and approaches to compensate for these. Methods: CGM data were obtained in a clinical study with 37 patients with a prototype glucose sensor. The study was divided into 5 phases over 2 years. In all, 8 patients participated in 2 phases separated by 8 months. A total number of 108 CGM data sets including raw signals were used for data analysis and were processed by statistical methods to obtain estimates of the time delay. Results: Overall mean (SD) time delay of the raw signals with respect to blood glucose was 9.5 (3.7) min, median was 9 min (interquartile range 4 min). Analysis of time delays observed in the same patients separated by 8 months suggests a patient dependent delay. No significant correlation was observed between delay and anamnestic or anthropometric data. The use of a prediction algorithm reduced the delay by 4 minutes on average. Conclusions: Prediction algorithms should be used to provide real-time CGM readings more consistent with simultaneous measurements by SMBG. Patient specificity may play an important role in improving prediction quality. PMID:26243773

  15. Developmental dysplasia of the hip

    Science.gov (United States)

    ... dislocation of the hip joint; Developmental hip dysplasia; DDH; Congenital dysplasia of the hip; Congenital dislocation of ... during pregnancy can increase a baby's risk of DDH. Other risk factors include: Being the first child ...

  16. Developmental dyslexia.

    Science.gov (United States)

    Peterson, Robin L; Pennington, Bruce F

    2015-01-01

    This review uses a levels-of-analysis framework to summarize the current understanding of developmental dyslexia's etiology, brain bases, neuropsychology, and social context. Dyslexia is caused by multiple genetic and environmental risk factors as well as their interplay. Several candidate genes have been identified in the past decade. At the brain level, dyslexia is associated with aberrant structure and function, particularly in left hemisphere reading/language networks. The neurocognitive influences on dyslexia are also multifactorial and involve phonological processing deficits as well as weaknesses in other oral language skills and processing speed. We address contextual issues such as how dyslexia manifests across languages and social classes as well as what treatments are best supported. Throughout the review, we highlight exciting new research that cuts across levels of analysis. Such work promises eventually to provide a comprehensive explanation of the disorder as well as its prevention and remediation.

  17. Project delay analysis of HRSG

    Science.gov (United States)

    Silvianita; Novega, A. S.; Rosyid, D. M.; Suntoyo

    2017-08-01

    Completion of HRSG (Heat Recovery Steam Generator) fabrication project sometimes is not sufficient with the targeted time written on the contract. The delay on fabrication process can cause some disadvantages for fabricator, including forfeit payment, delay on HRSG construction process up until HRSG trials delay. In this paper, the author is using semi quantitative on HRSG pressure part fabrication delay with configuration plant 1 GT (Gas Turbine) + 1 HRSG + 1 STG (Steam Turbine Generator) using bow-tie analysis method. Bow-tie analysis method is a combination from FTA (Fault tree analysis) and ETA (Event tree analysis) to develop the risk matrix of HRSG. The result from FTA analysis is use as a threat for preventive measure. The result from ETA analysis is use as impact from fabrication delay.

  18. Developmental Risk and Young Children's Regulatory Strategies: Predicting Behavior Problems at Age Five

    Science.gov (United States)

    Gerstein, Emily D.; Pedersen y Arbona, Anita; Crnic, Keith A.; Ryu, Ehri; Baker, Bruce L.; Blacher, Jan

    2011-01-01

    Children with early developmental delays are at heightened risk for behavior problems and comorbid psychopathology. This study examined the trajectories of regulatory capabilities and their potentially mediating role in the development of behavior problems for children with and without early developmental delays. A sample of 231 children comprised…

  19. Fractional delayed damped Mathieu equation

    Science.gov (United States)

    Mesbahi, Afshin; Haeri, Mohammad; Nazari, Morad; Butcher, Eric A.

    2015-03-01

    This paper investigates the dynamical behaviour of the fractional delayed damped Mathieu equation. This system includes three different phenomena (fractional order, time delay, parametric resonance). The method of harmonic balance is employed to achieve approximate expressions for the transition curves in the parameter plane. The n = 0 and n = 1 transition curves (both lower and higher order approximations) are obtained. The dependencies of these curves on the system parameters and fractional orders are determined. Previous results for the transition curves reported for the damped Mathieu equation, delayed second-order oscillator, and fractional Mathieu equation are confirmed as special cases of the results for the current system.

  20. Apparatus and Method for Compensating for Process, Voltage, and Temperature Variation of the Time Delay of a Digital Delay Line

    Science.gov (United States)

    Seefeldt, James (Inventor); Feng, Xiaoxin (Inventor); Roper, Weston (Inventor)

    2013-01-01

    A process, voltage, and temperature (PVT) compensation circuit and a method of continuously generating a delay measure are provided. The compensation circuit includes two delay lines, each delay line providing a delay output. The two delay lines may each include a number of delay elements, which in turn may include one or more current-starved inverters. The number of delay lines may differ between the two delay lines. The delay outputs are provided to a combining circuit that determines an offset pulse based on the two delay outputs and then averages the voltage of the offset pulse to determine a delay measure. The delay measure may be one or more currents or voltages indicating an amount of PVT compensation to apply to input or output signals of an application circuit, such as a memory-bus driver, dynamic random access memory (DRAM), a synchronous DRAM, a processor or other clocked circuit.

  1. Psychotherapy with people with developmental disabilities

    Directory of Open Access Journals (Sweden)

    Barbara Zafošnik

    2011-08-01

    Full Text Available People with developmental disabilities can experience any psychological abnormalitiy and psychiatric illness as do people without developmental disabilities. Due to different diagnostic criteria, assessment procedures and instruments, we lack definite prevalence rates for people with developmental disabilities, also suffering from mental health problems, eventhough most studies place the rate at 20 to 40%. One of the possible treatment alternatives for augmenting psychological well-being is psychotherapy, but is extremely rarely used for people with severe and profound disabilities, where speech cannot be the main therapeutic medium. So, those that are included in the psychotherapuetic process are predominantly clients with mild developmental disabilities, and they are mostly in cognitive-behavioral therapy. Recently, two models of (psychotherapy for persons with severe and profound developmental disabilities were developed: developmental-dynamic relationship therapy and attachment-based behaviour therapy for children. Conceptually, they both originate form developmental psychoanalytic theories.

  2. Diagnostic delays in children with early-onset epilepsy: impact, reasons, and opportunities to improve care

    Science.gov (United States)

    Berg, Anne T.; Loddenkemper, Tobias; Baca, Christine B.

    2014-01-01

    Purpose Delayed diagnosis of early-onset epilepsy is a potentially important and avoidable complication in epilepsy care. We examined the frequency of diagnostic delays in young children with newly presenting epilepsy, their developmental impact, and reasons for delays. Methods Children who developed epilepsy before their third birthday were identified in a prospective community-based cohort. An interval ≥1 month from second seizure to diagnosis was considered a delay. Testing of development at baseline and for up to three years after and of IQ 8–9 years later was performed. Detailed parental baseline interview accounts and medical records were reviewed to identify potential reasons for delays. Factors associated with delays included the parent, child, pediatrician, neurologist, and scheduling. Results Diagnostic delays occurred in 70/172 (41%) children. Delays occurred less often if children had received medical attention for the first seizure (p<0.0001), previously had neonatal or febrile seizures (p=0.02), had only convulsions before diagnosis (p=0.005) or had a college-educated parent (p=0.01). A ≥1 month diagnostic delay was associated with an average 7.4 point drop (p=0.02) in the Vineland Scales of Adaptive Behavior motor score. The effect was present at diagnosis, persisted for at least three years, and was also apparent in IQ scores 8–9 years later which were lower in association with a diagnostic delay by 8.4 points (p=0.06) for processing speed up to 14.5 points (p=0.004) for full scale IQ, after adjustment for parental education and other epilepsy-related clinical factors. Factors associated with delayed diagnosis included parents not recognizing events as seizures (N=47), pediatricians missing or deferring diagnosis (N=15), neurologists deferring diagnosis (N=7), and scheduling problems (N=11). Significance Diagnostic delays occur in many young children with epilepsy. They are associated with substantial decrements in development and IQ later

  3. Delays in early neuropsychic development: Approaches to diagnosis

    Directory of Open Access Journals (Sweden)

    N. N. Zavadenko

    2015-01-01

    Full Text Available The population frequency of neuropsychic developmental delays in infants is estimated at nearly 10%; that of global intellectual disability (mental retardation is at 1-3%. Delayed development is denned as a substantial retardation as compared to the standard indicators in any of the basic spheres: motor, communicative, cognitive, adaptive-behavioral, and socioemotional ones. Global developmental delay is characterized by a significant lag in two or more spheres. The use of current diagnostic techniques, such as the Bayley or Griffiths scales, can provide an objective quantitative assessment of both an infant's overall development and indicators in individual spheres. At the preliminary examination stage, it is expedient to carry out a Denver developmental screening test that may be directly used in a doctor's consulting room. The causes of global developmental delay/intellectual disability in infants may be perinatal central nervous system (CNS lesions; brain malformations; intrauterine infections; intrauterine intoxications; early-onset psychoneurological diseases (neuroinfections, CNS injuries, epilepsies, autism spectrum disorders, etc.; congenital hypothyroidism; genetic diseases. Among all genetic causes of global developmental delay/intellectual disability, there are chromosomal anomalies (25-30%, monogenic diseases (metabolic diseases, neuroectodermal syndromes, diseases with predominant grey and white matter involvement. The diagnostic possibilities of current genetic methods are considered.

  4. Modeling mechanisms of persisting and resolving delay in language development.

    Science.gov (United States)

    Thomas, Michael S C; Knowland, V C P

    2014-04-01

    PURPOSE In this study, the authors used neural network modeling to investigate the possible mechanistic basis of developmental language delay and to test the viability of the hypothesis that persisting delay and resolving delay lie on a mechanistic continuum with normal development. METHOD The authors used a population modeling approach to study individual rates of development in 1,000 simulated individuals acquiring a notional language domain (in this study, represented by English past tense). Variation was caused by differences in internal neurocomputational learning parameters as well as the richness of the language environment. An early language delay group was diagnosed, and individual trajectories were then traced. RESULTS Quantitative variations in learning mechanisms were sufficient to produce persisting delay and resolving delay subgroups in similar proportions to empirical observations. In the model, persisting language delay was caused by limitations in processing capacity, whereas resolving delay was caused by low plasticity. Richness of the language environment did not predict the emergence of persisting delay but did predict the final ability levels of individuals with resolving delay. CONCLUSION Mechanistically, it is viable that persisting delay and resolving delay are only quantitatively different. There may be an interaction between environmental factors and outcome groups, with individuals who have resolving delay being influenced more by the richness of the language environment.

  5. Delays and networked control systems

    CERN Document Server

    Hetel, Laurentiu; Daafouz, Jamal; Johansson, Karl

    2016-01-01

    This edited monograph includes state-of-the-art contributions on continuous time dynamical networks with delays. The book is divided into four parts. The first part presents tools and methods for the analysis of time-delay systems with a particular attention on control problems of large scale or infinite-dimensional systems with delays. The second part of the book is dedicated to the use of time-delay models for the analysis and design of Networked Control Systems. The third part of the book focuses on the analysis and design of systems with asynchronous sampling intervals which occur in Networked Control Systems. The last part of the book exposes several contributions dealing with the design of cooperative control and observation laws for networked control systems. The target audience primarily comprises researchers and experts in the field of control theory, but the book may also be beneficial for graduate students. .

  6. Romantic relationship patterns in young adulthood and their developmental antecedents.

    Science.gov (United States)

    Rauer, Amy J; Pettit, Gregory S; Lansford, Jennifer E; Bates, John E; Dodge, Kenneth A

    2013-11-01

    The delayed entry into marriage that characterizes modern society raises questions about young adults' romantic relationship trajectories and whether patterns found to characterize adolescent romantic relationships persist into young adulthood. The current study traced developmental transitions into and out of romantic relationships from age 18 through age 25 in a sample of 511 young adults. The developmental antecedents of these different romantic relationship experiences in both distal and proximal family and peer domains were also examined. Analyses included both person-oriented and variable-oriented approaches. Findings show 5 distinct clusters varying in timing, duration, and frequency of participation in romantic relationships that range from those who had only recently entered into a romantic relationship to those who had been in the same relationship from age 18 to age 25. These relationship outcome trajectory clusters were predicted by variations in competence in early relationships with family and peers. Interpersonal experiences in family and peer contexts in early childhood through adolescence thus may form a scaffold on which later competence in romantic relationships develops. Findings shed light on both normative and nonnormative developmental transitions of romantic relationships in young adulthood.

  7. Developmental Dyspraxia

    Science.gov (United States)

    ... and may include poor balance and coordination, clumsiness, vision problems, perception difficulties, emotional and behavioral problems, difficulty with reading, writing, and speaking, poor social skills, poor posture, and poor short-term memory. Although individuals with the disorder may be of ...

  8. Reasons for diagnostic delay in gynecological malignancies

    DEFF Research Database (Denmark)

    Vandborg, Mai Partridge; Christensen, René dePont Christensen; Kragstrup, Jakob

    2011-01-01

    Aim The primary aim of this study was to identify and describe different delay types in women with gynecologic cancer, and to analyze the relationship between diagnostic delay and a number of characteristics for patients, cancers and the health care system. Setting A cohort study of women newly......) and The Danish Gynecological Cancer Database (DGCD). 161 women were included; ovarian cancer: 63, endometrial cancer: 50, cervical cancer: 34 and vulvar cancer: 14. Outcome measures were different delay types counted in days and the influence of four clinical important variables: Presence of alarm symptoms, age...... (≤ or > 60 years), performance of gynecological examination by the GP and notification of cancer suspicion on first referral from GP’s on the diagnostic delay (short delay ≤90 days and long delay >90 days). Results Across cancer type a median total delay of 101 days was observed. The 10% of women...

  9. Delay differential systems for tick population dynamics.

    Science.gov (United States)

    Fan, Guihong; Thieme, Horst R; Zhu, Huaiping

    2015-11-01

    Ticks play a critical role as vectors in the transmission and spread of Lyme disease, an emerging infectious disease which can cause severe illness in humans or animals. To understand the transmission dynamics of Lyme disease and other tick-borne diseases, it is necessary to investigate the population dynamics of ticks. Here, we formulate a system of delay differential equations which models the stage structure of the tick population. Temperature can alter the length of time delays in each developmental stage, and so the time delays can vary geographically (and seasonally which we do not consider). We define the basic reproduction number [Formula: see text] of stage structured tick populations. The tick population is uniformly persistent if [Formula: see text] and dies out if [Formula: see text]. We present sufficient conditions under which the unique positive equilibrium point is globally asymptotically stable. In general, the positive equilibrium can be unstable and the system show oscillatory behavior. These oscillations are primarily due to negative feedback within the tick system, but can be enhanced by the time delays of the different developmental stages.

  10. CDC Kerala 7: Effect of early language intervention among children 0-3 y with speech and language delay.

    Science.gov (United States)

    Nair, M K C; Mini, A O; Leena, M L; George, Babu; Harikumaran Nair, G S; Bhaskaran, Deepa; Russell, Paul Swamidhas Sudhakar

    2014-12-01

    To assess the effect of systematic clinic and home based early language intervention program in children reporting to the early language intervention clinic with full partnership of specially trained developmental therapist and the parents. All babies between 0 and 3 y referred to Child Development Centre (CDC) Kerala for suspected speech/language delay were assessed and those without hearing impairment were screened first using Language Evaluation Scale Trivandrum (LEST) and assessed in detail using Receptive Expressive Emergent Language Scale (REELS). Those having language delay are enrolled into the early language intervention program for a period of 6 mo, 1 h at the CDC clinic once every month followed by home stimulation for rest of the month by the mother trained at CDC. Out of the total 455 children between 0 and 3 y, who successfully completed 6 mo intervention, the mean pre and post intervention language quotient (LQ) were 60.79 and 70.62 respectively and the observed 9.83 increase was statistically significant. The developmental diagnosis included developmental delay (62.4%), global developmental delay (18.5%), Trisomy and other chromosomal abnormalities (10.5%), microcephaly and other brain problems (9.9%), misarticulation (8.4%), autistic features (5.3%) and cleft palate and lip (3.3%) in the descending order. In the present study among 455 children between 0 and 3 y without hearing impairment, who successfully completed 6 mo early language intervention, the mean pre and post intervention LQ were 60.79 and 70.62 respectively and the observed 9.83 increase was statistically significant.

  11. Dysgraphia in Children: Lasting Psychomotor Deficiency or Transient Developmental Delay?

    Science.gov (United States)

    Smits-Engelsman, Bouwien C. M.; Van Galen, Gerard P.

    1997-01-01

    Used writing tasks recorded on a computer-monitored XY tablet to differentiate between normal variations in psychomotor development and dysgraphia in 16 young children. Found that control of spatial accuracy, not allograph retrieval or size control, discriminated dysgraphic children from others. Poor writers were less accurate than proficient…

  12. Delayed processing of global shape in developmental prosopagnosia

    DEFF Research Database (Denmark)

    Gerlach, Christian; Klargaard, Solja K.; Starrfelt, Randi

    2017-01-01

    and fragmented objects. In contrast, their visual short-term memory capacity, visual processing speed, efficiency of top-down selectivity, and spatial allocation of attentional resources were within the normal range. This suggests that the reduced global bias effect found in the DP-sample reflects a perceptual...... rather than an attentional deficit. To examine whether the reduction in the global precedence effect was systematically related to the face recognition impairment of the DPs we examined the correlation between the magnitude of the global precedence effect and performance on the Cambridge Face Memory Test...

  13. Transient hypothyroxinaemia associated with developmental delay in very preterm infants

    NARCIS (Netherlands)

    Meijer, W.J.; Verloove-Vanhorick, S.P.; Brand, R.; Brande, J.L. van den

    1992-01-01

    In 563 surviving very preterm (<32 weeks gestational age) and/or very low birthweight (<1500 g) infants the relationship between neonatal thyroxine concentration and psychomotor development at 2 years of age (corrected for preterm birth) was studied. A significant association was found between low

  14. Developmental delay at 12 months in children born extremely preterm

    DEFF Research Database (Denmark)

    Lando, Ane; Klamer, Anja; Jonsbo, Finn

    2005-01-01

    AIM: To evaluate the feasibility and validity of a structured telephone interview to assess the development of children born extremely preterm. METHODS: The parents of 88 children born with a gestational age below 28 wk admitted to the neonatal intensive care unit (NICU) at Rigshospitalet, Copenh...

  15. Children in Institutional Care: Delayed Development and Resilience

    Science.gov (United States)

    van IJzendoorn, Marinus H.; Palacios, Jesus; Sonuga-Barke, Edmund J. S.; Gunnar, Megan R.; Vorria, Panayiota; McCall, Robert B.; LeMare, Lucy; Bakermans-Kranenburg, Marian J.; Dobrova-Krol, Natasha A.; Juffer, Femmie

    2010-01-01

    Children exposed to institutional care often suffer from “structural neglect” which may include minimum physical resources, unfavorable and unstable staffing patterns, and social-emotionally inadequate caregiver-child interactions. This chapter is devoted to the analysis of the ill effects of early institutional experiences on resident children’s development. Delays in the important areas of physical, hormonal, cognitive, and emotional development are discussed. The evidence for and against the existence of a distinctive set of co-occurring developmental problems in institutionalized children is weighed and found to not yet convincingly demonstrate a “post-institutional syndrome”. Finally, shared and non-shared features of the institutional environment and specific genetic, temperamental, and physical characteristics of the individual child are examined that might make a crucial difference in whether early institutional rearing leaves irreversible scars. PMID:25125707

  16. Neutron stochastic transport theory with delayed neutrons

    International Nuclear Information System (INIS)

    Munoz-Cobo, J.L.; Verdu, G.

    1987-01-01

    From the stochastic transport theory with delayed neutrons, the Boltzmann transport equation with delayed neutrons for the average flux emerges in a natural way without recourse to any approximation. From this theory a general expression is obtained for the Feynman Y-function when delayed neutrons are included. The single mode approximation for the particular case of a subcritical assembly is developed, and it is shown that Y-function reduces to the familiar expression quoted in many books, when delayed neutrons are not considered, and spatial and source effects are not included. (author)

  17. Maternal mental health predicts risk of developmental problems at 3 years of age: follow up of a community based trial

    Directory of Open Access Journals (Sweden)

    Leew Shirley

    2008-05-01

    Full Text Available Abstract Background Undetected and untreated developmental problems can have a significant economic and social impact on society. Intervention to ameliorate potential developmental problems requires early identification of children at risk of future learning and behaviour difficulties. The objective of this study was to estimate the prevalence of risk for developmental problems among preschool children born to medically low risk women and identify factors that influence outcomes. Methods Mothers who had participated in a prenatal trial were followed up three years post partum to answer a telephone questionnaire. Questions were related to child health and development, child care, medical care, mother's lifestyle, well-being, and parenting style. The main outcome measure was risk for developmental problems using the Parents' Evaluation of Developmental Status (PEDS. Results Of 791 children, 11% were screened by the PEDS to be at high risk for developmental problems at age three. Of these, 43% had previously been referred for assessment. Children most likely to have been referred were those born preterm. Risk factors for delay included: male gender, history of ear infections, a low income environment, and a mother with poor emotional health and a history of abuse. A child with these risk factors was predicted to have a 53% chance of screening at high risk for developmental problems. This predicted probability was reduced to 19% if the child had a mother with good emotional health and no history of abuse. Conclusion Over 10% of children were identified as high risk for developmental problems by the screening, and more than half of those had not received a specialist referral. Risk factors for problems included prenatal and perinatal maternal and child factors. Assessment of maternal health and effective screening of child development may increase detection of children at high risk who would benefit from early intervention. Trial registration Current

  18. Static balance and developmental coordination disorder

    NARCIS (Netherlands)

    Geuze, RH

    2003-01-01

    The development of static balance is a basic characteristic of normal motor development. Most of the developmental motor tests include a measure of static balance. Children with a developmental coordination disorder (DCD) often fail this item. Twenty-four children at risk for DCD with balance

  19. Developmental Cognitive Neuroscience: Origins, Issues, and Prospects

    Science.gov (United States)

    Pennington, Bruce F.; Snyder, Kelly A.; Roberts, Ralph J., Jr.

    2007-01-01

    This commentary explains how the field of developmental cognitive neuroscience (DCN) holds the promise of a much wider interdisciplinary integration across sciences concerned with development: psychology, molecular genetics, neurobiology, and evolutionary developmental biology. First we present a brief history of DCN, including the key theoretical…

  20. [Non-autistic pervasive developmental disorders: Rett syndrome, disintegrative disorder and pervasive developmental disorder not otherwise specified

    NARCIS (Netherlands)

    Mercadante, M.T.; Gaag, R.J. van der; Schwartzman, J.S.

    2006-01-01

    The category "Pervasive Developmental Disorders" includes autistic disorder, Asperger's syndrome, Rett's syndrome, childhood disintegrative disorder, and a residual category, named pervasive developmental disorder not otherwise specified. In this review, Rett's syndrome and childhood disintegrative

  1. Delayed myelination and neurodevelopment in male seizure-prone versus seizure-resistant rats.

    Science.gov (United States)

    Sharma, Pragati; Powell, Kim L; Wlodek, Mary E; O'Brien, Terence J; Gilby, Krista L

    2018-01-28

    Aberrant myelination and developmental delay have been reported in epilepsy. However, it is unclear whether these are linked to intrinsic mechanisms that support a predisposition toward seizures and the development of epilepsy. Thus, we compared rates of myelination and neurodevelopment in male rats selectively bred for enhanced susceptibility to kindling epileptogenesis (FAST) with male rats bred for resistance (SLOW). Myelin-specific gene expression was compared in the brainstem, cerebellum, and cerebral hemisphere of FAST and SLOW rats on postnatal days (PNDs) 5, 11, 17, 23, and 90 to determine strain-specific myelination rates. Myelin protein levels were also compared at PNDs 5 and 23 in the brainstem. Relative rates of neurodevelopment were evaluated between PNDs 5 and 21 using physical growth landmarks and neuromotor tests including righting reflex, cliff avoidance, negative geotaxis, and locomotor activity. Myelin-specific mRNA expression was significantly down-regulated in FAST rats on PNDs 5 and 11 in all 3 brain structures, indicating relatively delayed myelination. Likewise, corresponding protein levels were significantly lower in FAST brainstem on PND 5. Developmental delay was evident in the FAST strain such that only 9% of FAST pups, compared to 81% of SLOW, had open eyes by PND 13, locomotor activity was significantly reduced between PNDs 12 and 16, and neuromotor task acquisition was delayed between PNDs 5 and 10. Relative delays in myelination and neurodevelopment co-occurred in the seizure-prone FAST strain in the absence of seizures. These findings suggest these symptoms are not seizure-induced and may be mechanistically linked to an underlying pathophysiology supporting a predisposition toward developing epilepsy. Wiley Periodicals, Inc. © 2018 International League Against Epilepsy.

  2. Transforming Developmental Education in Texas

    Science.gov (United States)

    Journal of Developmental Education, 2014

    2014-01-01

    In recent years, with support from the Texas Legislature, the Texas Higher Education Coordinating Board has funded various developmental education initiatives, including research and evaluation efforts, to help Texas public institutions of higher education provide more effective programs and services to underprepared students. Based on evaluation…

  3. Transfer delay audit.

    Science.gov (United States)

    Alraqi, S; Coughlan, R

    2007-05-01

    The purpose was to determine the average transfer time taken for acute patients to arrive to the medical unit from the time of referral by an A/E officer. We included the first 200 consecutive patients with completed records. 86 were men and 114 women, aged between 14 and 96 years. Transfer time was calculated as the difference from the time of referral by the A/E officer in UCHG to the time of arrival to the medical unit in MPH. The average transfer time for all patients was 91.5 minutes. The longest was in the second (17:00-24:00) interval with a mean of 105 minutes. 26.5% of patients arrived later than 2 hours after referral. Our findings confirm the existence of unacceptably long transfer time for a significant number of patients. Causes for this delay should be searched for to help find and implement solutions.

  4. Delay tolerant networks

    CERN Document Server

    Gao, Longxiang; Luan, Tom H

    2015-01-01

    This brief presents emerging and promising communication methods for network reliability via delay tolerant networks (DTNs). Different from traditional networks, DTNs possess unique features, such as long latency and unstable network topology. As a result, DTNs can be widely applied to critical applications, such as space communications, disaster rescue, and battlefield communications. The brief provides a complete investigation of DTNs and their current applications, from an overview to the latest development in the area. The core issue of data forward in DTNs is tackled, including the importance of social characteristics, which is an essential feature if the mobile devices are used for human communication. Security and privacy issues in DTNs are discussed, and future work is also discussed.

  5. Delay correlation analysis and representation for vital complaint VHDL models

    Science.gov (United States)

    Rich, Marvin J.; Misra, Ashutosh

    2004-11-09

    A method and system unbind a rise/fall tuple of a VHDL generic variable and create rise time and fall time generics of each generic variable that are independent of each other. Then, according to a predetermined correlation policy, the method and system collect delay values in a VHDL standard delay file, sort the delay values, remove duplicate delay values, group the delay values into correlation sets, and output an analysis file. The correlation policy may include collecting all generic variables in a VHDL standard delay file, selecting each generic variable, and performing reductions on the set of delay values associated with each selected generic variable.

  6. Performance of South African children on the Communication and Symbolic Behavior Scales-Developmental Profile (CSBS DP).

    Science.gov (United States)

    Chambers, Nola; Stronach, Sheri T; Wetherby, Amy M

    2016-05-01

    Substantial development in social communication skills occurs in the first two years of life. Growth should be evident in sharing emotion and eye gaze; rate of communication, communicating for a variety of functions; using gestures, sounds and words; understanding language, and using functional and pretend actions with objects in play. A delay in these early social communication skills may be the first sign of a developmental delay in young children in nearly all categories of disabilities-including specific language impairment, autism spectrum disorder, HIV/AIDS, lack of environmental stimulation or institutionalization, and global developmental delays-and early detection of these delays is critical for enrolment in appropriate early intervention services. No standardized tests of early social communication skills exist for very young children in South Africa (SA). An existing evaluation tool that has the potential to be culturally fair for children from cultural backgrounds different to the standardization group is the Communication and Symbolic Behaviour Scales-Developmental Profile (CSBS DP). This study aimed to document the performance of a group of English-speaking SA children ranging in age from 12 to 24 months on the CSBS DP and to compare this performance with the original standardization sample. Sixty-seven English-speaking SA children from a range of cultural and linguistic backgrounds were assessed on the CSBS DP Behaviour Sample. Group scores were compared with the original standardization sample using inferential statistics. The results provide preliminary support for the suitability and validity of the face-to-face Behaviour Sample as a measure of early social communication skills in this sample of English-speaking SA children from a range of cultural groups between 12 and 24 months of age. While further research in the SA population is needed, these findings are a first step towards validating a culturally appropriate measure for early detection of

  7. Developmental malformations of the cerebral cortex

    International Nuclear Information System (INIS)

    Reiss-Zimmermann, Martin; Weber, D.; Sorge, I.; Hirsch, W.; Merkenschlager, A.

    2010-01-01

    Migration disorders (MD) are increasingly recognized as an important cause of epilepsy and developmental delay. Up to 25% of children with refractory epilepsy have a cortical malformation. MD encompass a wide spectrum with underlying genetic etiologies and clinical manifestations. Research regarding the delineation of the genetic and molecular basis of these disorders has provided greater insight into the pathogenesis of not only the malformation but also the process involved in normal cortical development. Diagnosis of MD is important since patients who fail three antiepileptic medications are less likely to have their seizures controlled with additional trials of medications and therefore epilepsy surgery should be considered. Recent improvements in neuroimaging have resulted in a significant increase in the recognition of MD. Findings can be subdivided in disorders due to abnormal neurogenesis, neuronal migration, neuronal migration arrest and neuronal organization resulting in different malformations like microcephaly, lissencephaly, schizencephaly and heterotopia. The examination protocol should include T1-w and T2-w sequences in adequate slice orientation. T1-w turbo-inversion recovery sequences (TIR) can be helpful to diagnose heterotopia. Contrast agent is needed only to exclude other differential diagnoses. (orig.)

  8. DEVELOPMENTAL CIGARETTE SMOKE EXPOSURE: HIPPOCAMPUS PROTEOME AND METABOLOME PROFILES IN LOW BIRTH WEIGHT PUPS

    Science.gov (United States)

    Neal, Rachel E.; Chen, Jing; Jagadapillai, Rekha; Jang, HyeJeong; Abomoelak, Bassam; Brock, Guy; Greene, Robert M.; Pisano, M. Michele

    2014-01-01

    Exposure to cigarette smoke during development is linked to neurodevelopmental delays and cognitive impairment including impulsivity, attention deficit disorder, and lower IQ. However, brain region specific biomolecular alterations induced by developmental cigarette smoke exposure (CSE) remain largely unexplored. In the current molecular phenotyping study, a mouse model of ‘active’ developmental CSE (serum cotinine>50 ng/mL) spanning pre-implantation through third trimester-equivalent brain development (gestational day (GD) 1 through postnatal day (PD) 21) was utilized. Hippocampus tissue collected at the time of cessation of exposure was processed for gel-based proteomic and non-targeted metabolomic profiling with Partial Least Squares-Discriminant Analysis (PLS-DA) for selection of features of interest. Ingenuity Pathway Analysis was utilized to identify candidate molecular and metabolic pathways impacted within the hippocampus. CSE impacted glycolysis, oxidative phosphorylation, fatty acid metabolism, and neurodevelopment pathways within the developing hippocampus. PMID:24486158

  9. Premature reproductive aging in female rats after developmental exposure to mixtures of endocrine disrupters

    DEFF Research Database (Denmark)

    Jacobsen, Pernille Rosenskjold; Petersen, Marta Axelstad; Christiansen, Sofie

    2013-01-01

    Long-lasting and delayed reproductive effects of developmental exposure to mixtures of environmental chemicals were investigated in female rats. Wistar rats were dosed during gestation and lactation to mixtures of endocrine disrupters, and effects in offspring were studied. The mixtures consisted...... or effects on ovary development may account for the observed effect. This study demonstrated that developmental exposure of rats to mixtures of endocrine disrupters can induce long-lasting adverse effects manifested as early reproductive senescence even though no effects on estrous cyclicity were observed....... Additionally, groups received mixtures including only the anti-androgens or estrogens at 200 or 450 times human intake. Female offspring exposed to the high dose mixture of all 13 chemicals showed earlier reproductive aging measured as early onset of irregular estrous cycle as compared to controls...

  10. Developmental hip dysplasia in adolescence

    Directory of Open Access Journals (Sweden)

    Vukašinović Zoran

    2009-01-01

    Full Text Available The authors define adolescence and developmental dysplasia of the hip (DDH. Special attention is paid to pathological findings characteristic of DDH in adolescence (unrecognized and untreated DDH; treated DDH, but non-terminated treatment; DDH diagnosed with delay, inadequately treated, with complications. The authors emphasise that DDH treatment has to be successfully terminated well before the adolescence; possibilities are explained on management modes at the time of adolescence, and possible persons guilty for the persistence of later hip problems are indicated. Based on the authors' experience and having in mind all surgical possibilities for the treatment (pelvic osteotomies, femoral osteotomies, trochanteroplasties, leg length equalization procedures the authors propose treatment protocols. The intention is to provide better treatment results and to prevent secondary hip arthrosis. Furthermore, how to improve the struggle against DDH is suggested.

  11. Intolerance to Delayed Reward in Girls with Multiple Suicide Attempts

    Science.gov (United States)

    Mathias, Charles W.; Dougherty, Donald M.; James, Lisa M.; Richard, Dawn M.; Dawes, Michael A.; Acheson, Ashley; Hill-Kapturczak, Nathalie

    2011-01-01

    Impulsivity has been conceptualized as influencing the expression of suicidal behavior. Adolescence is a developmental period characterized both by a relatively high rate of suicide attempts and a high level of impulsivity. The current study examined two behavioral measures (delay reward and disinhibition) and one self-report measure of…

  12. An investigation into prospective memory in children with developmental dyslexia

    OpenAIRE

    Azizuddin eKhan; Azizuddin eKhan

    2014-01-01

    Developmental dyslexia hinders reading and writing acquisition of around 5-10 % of the children all over the world. However, little is known about role of prospective memory among dyslexics. Prospective memory is realization of delayed intention. Realization of delayed intention requires self initiated process. The present study explored the role of memory (prospective and retrospective memory), meta-memory and attention among dyslexic’s children. One hundred and fifteen children (51 dyslexic...

  13. An investigation into prospective memory in children with developmental dyslexia

    OpenAIRE

    Khan, Azizuddin

    2014-01-01

    Developmental dyslexia hinders reading and writing acquisition of around 5–10% of the children all over the world. However, little is known about role of prospective memory among dyslexics. Prospective memory is realization of delayed intention. Realization of delayed intention requires self initiated process. The present study explored the role of memory (prospective and retrospective memory), meta-memory and attention among dyslexic's children. One hundred and fifteen children (51 dyslexics...

  14. Modeling of Random Delays in Networked Control Systems

    Directory of Open Access Journals (Sweden)

    Yuan Ge

    2013-01-01

    Full Text Available In networked control systems (NCSs, the presence of communication networks in control loops causes many imperfections such as random delays, packet losses, multipacket transmission, and packet disordering. In fact, random delays are usually the most important problems and challenges in NCSs because, to some extent, other problems are often caused by random delays. In order to compensate for random delays which may lead to performance degradation and instability of NCSs, it is necessary to establish the mathematical model of random delays before compensation. In this paper, four major delay models are surveyed including constant delay model, mutually independent stochastic delay model, Markov chain model, and hidden Markov model. In each delay model, some promising compensation methods of delays are also addressed.

  15. Digital time delay

    Science.gov (United States)

    Martin, A.D.

    1986-05-09

    Method and apparatus are provided for generating an output pulse following a trigger pulse at a time delay interval preset with a resolution which is high relative to a low resolution available from supplied clock pulses. A first lumped constant delay provides a first output signal at predetermined interpolation intervals corresponding to the desired high resolution time interval. Latching circuits latch the high resolution data to form a first synchronizing data set. A selected time interval has been preset to internal counters and corrected for circuit propagation delay times having the same order of magnitude as the desired high resolution. Internal system clock pulses count down the counters to generate an internal pulse delayed by an internal which is functionally related to the preset time interval. A second LCD corrects the internal signal with the high resolution time delay. A second internal pulse is then applied to a third LCD to generate a second set of synchronizing data which is complementary with the first set of synchronizing data for presentation to logic circuits. The logic circuits further delay the internal output signal with the internal pulses. The final delayed output signal thereafter enables the output pulse generator to produce the desired output pulse at the preset time delay interval following input of the trigger pulse.

  16. Delayed Sequence Intubation

    DEFF Research Database (Denmark)

    Weingart, Scott D; Trueger, N Seth; Wong, Nelson

    2015-01-01

    assessed. RESULTS: A total of 62 patients were enrolled: 19 patients required delayed sequence intubation to allow nonrebreather mask, 39 patients required it to allow NIPPV, and 4 patients required it for nasogastric tube placement. Saturations increased from a mean of 89.9% before delayed sequence...

  17. Reproductive and developmental toxicology

    National Research Council Canada - National Science Library

    Gupta, Ramesh C

    2011-01-01

    .... Reproductive and Developmental Toxicology is a comprehensive and authoritative resource providing the latest literature enriched with relevant references describing every aspect of this area of science...

  18. American Dream Delayed

    DEFF Research Database (Denmark)

    Khorunzhina, Natalia; Miller, Robert A.

    This paper investigates the delay in homeownership and a subsequent reduction in homeownership rate observed over the past decades. We focus on the delay in giving birth to children and increased labor market participation as contributing factors to homeownership dynamics for prime-age female hou......, fertility decisions and labor supply alternatives faced by the individuals over different stages of the life cycle. The delays in giving birth and buying first home arise endogenously.......This paper investigates the delay in homeownership and a subsequent reduction in homeownership rate observed over the past decades. We focus on the delay in giving birth to children and increased labor market participation as contributing factors to homeownership dynamics for prime-age female...

  19. Wanted: A Developmentally Oriented Alcohol Prevention Program.

    Science.gov (United States)

    Spoth, Richard; Rosenthal, David

    1980-01-01

    Describes an alcohol prevention program with a comprehensive developmental skills orientation. The program includes values clarification, decision making, career planning and communication skills, assertiveness and relaxation training, and relationship with parents and peers. (Author/JAC)

  20. Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies

    Directory of Open Access Journals (Sweden)

    Guillermo Lay-Son

    2015-04-01

    Full Text Available OBJECTIVES: Clinical use of microarray-based techniques for the analysis of many developmental disorders has emerged during the last decade. Thus, chromosomal microarray has been positioned as a first-tier test. This study reports the first experience in a Chilean cohort. METHODS: Chilean patients with developmental disabilities and congenital anomalies were studied with a high-density microarray (CytoScan(tm HD Array, Affymetrix, Inc., Santa Clara, CA, USA. Patients had previous cytogenetic studies with either a normal result or a poorly characterized anomaly. RESULTS: This study tested 40 patients selected by two or more criteria, including: major congenital anomalies, facial dysmorphism, developmental delay, and intellectual disability. Copy number variants (CNVs were found in 72.5% of patients, while a pathogenic CNV was found in 25% of patients and a CNV of uncertain clinical significance was found in 2.5% of patients. CONCLUSION: Chromosomal microarray analysis is a useful and powerful tool for diagnosis of developmental diseases, by allowing accurate diagnosis, improving the diagnosis rate, and discovering new etiologies. The higher cost is a limitation for widespread use in this setting.

  1. Treadmill interventions in children under six years of age at risk of neuromotor delay

    NARCIS (Netherlands)

    Valentin-Gudiol, Marta; Mattern-Baxter, Katrin; Girabent-Farres, Montserrat; Bagur-Calafat, Caritat; Hadders-Algra, Mijna; Maria Angulo-Barroso, Rosa

    2017-01-01

    Background: Delayed motor development may occur in children with Down syndrome, cerebral palsy, general developmental delay or children born preterm. It limits the child's exploration of the environment and can hinder cognitive and social-emotional development. Literature suggests that task-specific

  2. The developmental sequence of social-communicative skills in young children with autism: a longitudinal study.

    Science.gov (United States)

    Wu, Chin-Chin; Chiang, Chung-Hsin

    2014-05-01

    To explore the different developmental trajectories of social-communicative skills in children with autism and typically developing infants, two longitudinal studies were conducted. In Study 1, we examined the developmental sequence of social-communicative skills in 26 typically developing infants when they were 9 months old and reexamined them when they were 12 and 15 months old. The results indicated a reliable developmental sequence of social-communicative skills in infants with typical development. In Study 2, we explored the emergence sequence of social-communicative skills of 23 children with autism and 23 children with developmental delay between the ages of 2 and 4 years. The results demonstrated that the developmental sequence of social-communicative skills in young children with autism and children with developmental delays was different.

  3. Impact of delaying school start time on adolescent sleep, mood, and behavior.

    Science.gov (United States)

    Owens, Judith A; Belon, Katherine; Moss, Patricia

    2010-07-01

    To examine the impact of a 30-minute delay in school start time on adolescents' sleep, mood, and behavior. Participants completed the online retrospective Sleep Habits Survey before and after a change in school start time. An independent high school in Rhode Island. Students (n = 201) in grades 9 through 12. Intervention Institution of a delay in school start time from 8 to 8:30 am. Sleep patterns and behavior, daytime sleepiness, mood, data from the Health Center, and absences/tardies. After the start time delay, mean school night sleep duration increased by 45 minutes, and average bedtime advanced by 18 minutes (95% confidence interval, 7-29 minutes [t(423) = 3.36; P sleep decreased by 79.4%, and those reporting at least 8 hours of sleep increased from 16.4% to 54.7%. Students reported significantly more satisfaction with sleep and experienced improved motivation. Daytime sleepiness, fatigue, and depressed mood were all reduced. Most health-related variables, including Health Center visits for fatigue-related complaints, and class attendance also improved. A modest delay in school start time was associated with significant improvements in measures of adolescent alertness, mood, and health. The results of this study support the potential benefits of adjusting school schedules to adolescents' sleep needs, circadian rhythm, and developmental stage.

  4. Delayed power analysis

    International Nuclear Information System (INIS)

    Adamovich, L.A.; Azarov, V.V.

    1999-01-01

    Time dependent core power behavior in a nuclear reactor is described with well-known neutron kinetics equations. At the same time, two portions are distinguished in energy released from uranium nuclei fission; one released directly at fission and another delayed (residual) portion produced during radioactive decay of fission products. While prompt power is definitely described with kinetics equations, the delayed power presentation still remains outstanding. Since in operation the delayed power part is relatively small (about 6%) operation, it can be neglected for small reactivity disturbances assuming that entire power obeys neutron kinetics equations. In case of a high negative reactivity rapidly inserted in core (e.g. reactor scram initiation) the prompt and delayed components can be calculated separately with practically no impact on each other, employing kinetics equations for prompt power and known approximation formulas for delayed portion, named residual in this specific case. Under substantial disturbances the prompt component in the dynamic process becomes commensurable with delayed portion, thus making necessary to take into account their cross impact. A system of differential equations to describe time-dependent behavior of delayed power is presented. Specific NPP analysis shows a way to significantly simplify the task formulation. (author)

  5. Utilization of genetic testing among children with developmental disabilities in the United States

    Directory of Open Access Journals (Sweden)

    Kiely B

    2016-07-01

    Full Text Available Bridget Kiely, Sujit Vettam, Andrew Adesman Division of Developmental and Behavioral Pediatrics, Department of Pediatrics, Steven and Alexandra Cohen Children’s Medical Center of New York, New Hyde Park, NY, USA Purpose: Several professional societies recommend that genetic testing be routinely included in the etiologic workup of children with developmental disabilities. The aim of this study was to determine the rate at which genetic testing is performed in this population, based on data from a nationally representative survey.Methods: Data were analyzed from the Survey of Pathways to Diagnosis and Services, a telephone-based survey of parents and guardians of US school-age children with current or past developmental conditions. This study included 3,371 respondents who indicated that their child had an autism spectrum disorder (ASD, intellectual disability (ID, and/or developmental delay (DD at the time of survey administration. History of genetic testing was assessed based on report by the parent/s. Children were divided into the following five mutually exclusive condition groups: ASD with ID; ASD with DD, without ID; ASD only, without ID or DD; ID without ASD; and DD only, without ID or ASD. Logistic regression was used to assess the demographic correlates of genetic testing, to compare the rates of genetic testing across groups, and to examine associations between genetic testing and use of other health-care services.Results: Overall, 32% of this sample had a history of genetic testing, including 34% of all children with ASD and 43% of those with ID. After adjusting for demographics, children with ASD + ID were more than seven times as likely as those with ASD only, and more than twice as likely as those who had ID without ASD, to have undergone genetic testing. Prior specialist care (developmental pediatrician or neurologist and access to all needed providers within the previous year were associated with higher odds of genetic testing

  6. Adult Consequences of Self-Limited Delayed Puberty.

    Science.gov (United States)

    Zhu, Jia; Chan, Yee-Ming

    2017-06-01

    Delayed puberty is a common condition defined as the lack of sexual maturation by an age ≥2 SD above the population mean. In the absence of an identified underlying cause, the condition is usually self-limited. Although self-limited delayed puberty is largely believed to be a benign developmental variant with no long-term consequences, several studies have suggested that delayed puberty may in fact have both harmful and protective effects on various adult health outcomes. In particular, height and bone mineral density have been shown to be compromised in some studies of adults with a history of delayed puberty. Delayed puberty may also negatively affect adult psychosocial functioning and educational achievement, and individuals with a history of delayed puberty carry a higher risk for metabolic and cardiovascular disorders. In contrast, a history of delayed puberty appears to be protective for breast and endometrial cancer in women and for testicular cancer in men. Most studies on adult outcomes of self-limited delayed puberty have been in small series with significant variability in outcome measures and study criteria. In this article, we review potential medical and psychosocial issues for adults with a history of self-limited delayed puberty, discuss potential mechanisms underlying these issues, and identify gaps in knowledge and directions for future research. Copyright © 2017 by the American Academy of Pediatrics.

  7. Developmental Changes in Cognitive and Behavioural Functioning of Adolescents with Fragile-X Syndrome

    Science.gov (United States)

    Frolli, A.; Piscopo, S.; Conson, M.

    2015-01-01

    Background: Individuals with fragile-X syndrome exhibit developmental delay, hyperexcitation and social anxiety; they also show lack of attention and hyperactivity. Few studies have investigated whether levels of functioning change with increasing age. Here, we explored developmental changes across adolescence in the cognitive and behavioural…

  8. Challenges and opportunities in developmental integrative physiology.

    Science.gov (United States)

    Mueller, C A; Eme, J; Burggren, W W; Roghair, R D; Rundle, S D

    2015-06-01

    This review explores challenges and opportunities in developmental physiology outlined by a symposium at the 2014 American Physiological Society Intersociety Meeting: Comparative Approaches to Grand Challenges in Physiology. Across animal taxa, adverse embryonic/fetal environmental conditions can alter morphological and physiological phenotypes in juveniles or adults, and capacities for developmental plasticity are common phenomena. Human neonates with body sizes at the extremes of perinatal growth are at an increased risk of adult disease, particularly hypertension and cardiovascular disease. There are many rewarding areas of current and future research in comparative developmental physiology. We present key mechanisms, models, and experimental designs that can be used across taxa to investigate patterns in, and implications of, the development of animal phenotypes. Intraspecific variation in the timing of developmental events can be increased through developmental plasticity (heterokairy), and could provide the raw material for selection to produce heterochrony--an evolutionary change in the timing of developmental events. Epigenetics and critical windows research recognizes that in ovo or fetal development represent a vulnerable period in the life history of an animal, when the developing organism may be unable to actively mitigate environmental perturbations. 'Critical windows' are periods of susceptibility or vulnerability to environmental or maternal challenges, periods when recovery from challenge is possible, and periods when the phenotype or epigenome has been altered. Developmental plasticity may allow survival in an altered environment, but it also has possible long-term consequences for the animal. "Catch-up growth" in humans after the critical perinatal window has closed elicits adult obesity and exacerbates a programmed hypertensive phenotype (one of many examples of "fetal programing"). Grand challenges for developmental physiology include

  9. Challenges and opportunities in developmental integrative physiology☆

    Science.gov (United States)

    Mueller, C.A.; Eme, J.; Burggren, W.W.; Roghair, R.D.; Rundle, S.D.

    2015-01-01

    include integrating variation in developmental timing within and across generations, applying multiple stressor dosages and stressor exposure at different developmental timepoints, assessment of epigenetic and parental influences, developing new animal models and techniques, and assessing and implementing these designs and models in human health and development. PMID:25711780

  10. Framework to Delay Corn Rootworm Resistance

    Science.gov (United States)

    This proposed framework is intended to delay the corn rootworm pest becoming resistant to corn genetically engineered to produce Bt proteins, which kill corn rootworms but do not affect people or wildlife. It includes requirements on Bt corn manufacturers.

  11. A simple chaotic delay differential equation

    International Nuclear Information System (INIS)

    Sprott, J.C.

    2007-01-01

    The simplest chaotic delay differential equation with a sinusoidal nonlinearity is described, including the route to chaos, Lyapunov exponent spectrum, and chaotic diffusion. It is prototypical of many other high-dimensional chaotic systems

  12. Delay and environmental costs of truck crashes

    Science.gov (United States)

    2013-03-01

    This report presents estimates of certain categories of costs of truck- and bus-involved crashes. Crash related costs estimated as part of this study include vehicle delay costs, emission costs, and fuel consumption costs. In addition, this report al...

  13. Developmental neurotoxicity after toluene inhalation exposure in rats

    DEFF Research Database (Denmark)

    Hass, Ulla; Lund, Søren Peter; Hougaard, Karin Sørig

    1999-01-01

    TG for Developmental Neurotoxicity Study, i.e., physical development, reflex ontogeny, motor function, motor activity, sensory function, and learning and memory. The exposure did not cause maternal toxicity or decreased viability of the offspring. Lower birth weight, delayed ontogeny of reflexes...

  14. Romantic Relationship Patterns in Young Adulthood and Their Developmental Antecedents

    Science.gov (United States)

    Rauer, Amy J.; Pettit, Gregory S.; Lansford, Jennifer E.; Bates, John E.; Dodge, Kenneth A.

    2013-01-01

    The delayed entry into marriage that characterizes modern society raises questions about young adults' romantic relationship trajectories and whether patterns found to characterize adolescent romantic relationships persist into young adulthood. The current study traced developmental transitions into and out of romantic relationships from age…

  15. Delayed puberty in boys

    Science.gov (United States)

    ... In most cases, delayed puberty is simply a matter of growth changes beginning later than usual, sometimes ... ADAM Health Solutions. About MedlinePlus Site Map FAQs Customer Support Get email updates Subscribe to RSS Follow ...

  16. Delayed puberty in girls

    Science.gov (United States)

    ... with too little body fat, gaining a bit of weight may help trigger puberty. If delayed puberty is caused by a disease or an eating disorder, treating the cause may help puberty to develop normally. If puberty ...

  17. Specific Developmental Disorders of Scholastic Skills

    Directory of Open Access Journals (Sweden)

    Beena Johnson

    2015-07-01

    Full Text Available Several factors contribute to scholastic backwardness in children. Causes include specific developmental disorders of scholastic skills, low intelligence, chronic illnesses, family dysfunction, social problems, attention deficits, and emotional disorders. Children with specific developmental disorders of scholastic skills experience significant impairment in the acquisition of reading, writing and mathematical skills. If not remedied at the earliest, these children are at risk of developing severe stress related disorders. There is high comorbidity of behaviour disorders and emotional disorders in these children. Hence early intensive remedial education is essential in the management of children with specific developmental disorders of scholastic skills.

  18. Gestational Hyperandrogenism in Developmental Programming

    Science.gov (United States)

    Hakim, Christopher; Padmanabhan, Vasantha

    2017-01-01

    Androgen excess (hyperandrogenism) is a common endocrine disorder affecting women of reproductive age. The potential causes of androgen excess in women include polycystic ovary syndrome, congenital adrenal hyperplasia (CAH), adrenal tumors, and racial disparity among many others. During pregnancy, luteoma, placental aromatase deficiency, and fetal CAH are additional causes of gestational hyperandrogenism. The present report reviews the various phenotypes of hyperandrogenism during pregnancy and its origin, pathophysiology, and the effect of hyperandrogenism on the fetal developmental trajectory and offspring consequences. PMID:27967205

  19. Vernier Delay Unit

    Energy Technology Data Exchange (ETDEWEB)

    Pierce, W.B.

    1984-10-01

    This module will accept differential ECL pulses from the auxiliary rear panel or NIM level pulses from the front panel. The pulses are produced at the output with a fixed delay that is software programmable in steps of 0.1 ns over the range of 0.1 to 10.5 ns. Multiple outputs are available at the front panel. Minimum delay through the module is 9 ns.

  20. Choice and reinforcement delay

    OpenAIRE

    Gentry, G. David; Marr, M. Jackson

    1980-01-01

    Previous studies of choice between two delayed reinforcers have indicated that the relative immediacy of the reinforcer is a major determinant of the relative frequency of responding. Parallel studies of choice between two interresponse times have found exceptions to this generality. The present study looked at the choice by pigeons between two delays, one of which was always four times longer than the other, but whose absolute durations were varied across conditions. The results indicated th...

  1. To delay or not to delay a frozen embryo transfer after a failed fresh embryo transfer attempt?

    Science.gov (United States)

    Santos-Ribeiro, Samuel; Siffain, Johannie; Polyzos, Nikolaos P; van de Vijver, Arne; van Landuyt, Lisbet; Stoop, Dominic; Tournaye, Herman; Blockeel, Christophe

    2016-05-01

    To evaluate if increasing the interval between a failed fresh embryo transfer and a subsequent frozen embryo transfer (FET) cycle has any effect on clinical pregnancy rates (CPRs). Retrospective cohort study. University-based tertiary referral center. Women who underwent at least one FET after ovarian stimulation for in vitro fertilization (IVF) and a failed fresh embryo transfer attempt from January 2010 to November 2014. We divided our sample according to the "timing" of the first FET (TF-FET), defined by the interval between oocyte retrieval and the FET cycle start date. The start of the FET was classified as either immediate (≤22 days after oocyte retrieval) or delayed (>22 days after oocyte retrieval). None. CPR after the first FET. A total of 1,183 FET cycles (performed in 1,087 women) were included in our study. No significant differences were found between the immediate and delayed FET groups regarding age, number of oocytes retrieved, number of good-quality embryos produced, embryo developmental stage at FET, and number of frozen embryos transferred. Most importantly, the CPRs of the first FET did not differ significantly according to the TF-FET (32.5% after immediate FET vs. 31.7% after delayed FET), even after adjusting for potential confounding with the use of multivariable logistic regression. FETs performed immediately after fresh IVF cycles had CPRs similar to those postponed to a later time. Therefore, deferring FETs may unnecessarily prolong time to pregnancy. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  2. Modelling delays in pharmacokinetics

    International Nuclear Information System (INIS)

    Farooqi, Z.H.; Lambrecht, R.M.

    1990-01-01

    Linear system analysis has come to form the backbone of pharmacokinetics. Natural systems usually involve time delays, thus models incorporating them would be an order closer approximation to the real world compared to those that do not. Delays may be modelled in several ways. The approach considered in this study is to have a discrete-time delay dependent rate with the delay respresenting the duration between the entry of a drug into a compartment and its release in some form (may be as a metabolite) from the compartment. Such a delay may be because of one or more of several physiological reasons, like, formation of a reservoir, slow metabolism, or receptor binding. The mathematical structure this gives rise to is a system of delay-differential equations. Examples are given of simple one and two compartment systems with drugs like bumetanide, carbamazepine, and quinolone-caffeine interaction. In these examples generally a good fit is obtained and the suggested models form a good approximation. 21 refs., 6 figs

  3. Developmental biology, the stem cell of biological disciplines.

    Science.gov (United States)

    Gilbert, Scott F

    2017-12-01

    Developmental biology (including embryology) is proposed as "the stem cell of biological disciplines." Genetics, cell biology, oncology, immunology, evolutionary mechanisms, neurobiology, and systems biology each has its ancestry in developmental biology. Moreover, developmental biology continues to roll on, budding off more disciplines, while retaining its own identity. While its descendant disciplines differentiate into sciences with a restricted set of paradigms, examples, and techniques, developmental biology remains vigorous, pluripotent, and relatively undifferentiated. In many disciplines, especially in evolutionary biology and oncology, the developmental perspective is being reasserted as an important research program.

  4. Life Span Developmental Approach

    Directory of Open Access Journals (Sweden)

    Ali Eryilmaz

    2011-03-01

    Full Text Available The Life Span Developmental Approach examines development of individuals which occurs from birth to death. Life span developmental approach is a multi-disciplinary approach related with disciplines like psychology, psychiatry, sociology, anthropology and geriatrics that indicates the fact that development is not completed in adulthood, it continues during the life course. Development is a complex process that consists of dying and death. This approach carefully investigates the development of individuals with respect to developmental stages. This developmental approach suggests that scientific disciplines should not explain developmental facts only with age changes. Along with aging, cognitive, biological, and socioemotional development throughout life should also be considered to provide a reasonable and acceptable context, guideposts, and reasonable expectations for the person. There are three important subjects whom life span developmental approach deals with. These are nature vs nurture, continuity vs discontinuity, and change vs stability. Researchers using life span developmental approach gather and produce knowledge on these three most important domains of individual development with their unique scientific methodology.

  5. Delaying gratification depends on social trust

    Directory of Open Access Journals (Sweden)

    Laura eMichaelson

    2013-06-01

    Full Text Available Delaying gratification is hard, yet predictive of important life outcomes, such as academic achievement and physical health. Prominent theories focus on the role of self-control, hypersensitivity to immediate rewards, and the cost of time spent waiting. However, delaying gratification may also require trust in people delivering future rewards as promised. To test the role of social trust, participants were presented with character vignettes and faces that varied in trustworthiness, and then chose between hypothetical smaller immediate or larger delayed rewards from those characters. Across two experiments, participants were less willing to wait for delayed rewards from less trustworthy characters, and perceived trustworthiness predicted willingness to delay gratification. These findings provide the first demonstration of a causal role for social trust in willingness to delay gratification, independent of other relevant factors, such as self-control or reward history. Thus, delaying gratification requires choosing not only a later reward, but a reward that is potentially less likely to be delivered, when there is doubt about the person promising it. Implications of this work include the need to revise prominent theories of delay of gratification, and new directions for interventions with populations characterized by impulsivity.

  6. Recall Memory in Children with Down Syndrome and Typically Developing Peers Matched on Developmental Age

    Science.gov (United States)

    Milojevich, H.; Lukowski, A.

    2016-01-01

    Background: Whereas research has indicated that children with Down syndrome (DS) imitate demonstrated actions over short delays, it is presently unknown whether children with DS recall information over lengthy delays at levels comparable with typically developing (TD) children matched on developmental age. Method: In the present research, 10…

  7. MicroRNAs and Developmental Timing

    OpenAIRE

    Ambros, Victor

    2011-01-01

    MicroRNAs regulate temporal transitions in gene expression associated with cell fate progression and differentiation throughout animal development. Genetic analysis of developmental timing in the nematode C. elegans identified two evolutionarily conserved microRNAs, lin-4/mir-125 and let-7, that regulate cell fate progression and differentiation and in C. elegans cell lineages. MicroRNAs perform analogous developmental timing functions in other animals, including mammals. By regulating cell f...

  8. Severe psychomotor delay in a severe presentation of cat-eye syndrome.

    Science.gov (United States)

    Jedraszak, Guillaume; Receveur, Aline; Andrieux, Joris; Mathieu-Dramard, Michèle; Copin, Henri; Morin, Gilles

    2015-01-01

    Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. Many reported cases also presented with variable congenital anomalies and intellectual disability. Most patients diagnosed with CES carry a small supernumerary bisatellited marker chromosome, resulting in partial tetrasomy of 22p-22q11.21. There are two types of small supernumerary marker chromosome, depending on the breakpoint site. In a very small proportion of cases, other cytogenetic anomalies are reportedly associated with the cat-eye syndrome phenotype. Here, we report a patient with cat-eye syndrome caused by a type 1 small supernumerary marker chromosome. The phenotype was atypical and included a severe developmental delay. The use of array comparative genomic hybridization ruled out the involvement of another chromosomal imbalance in the neurological phenotype. In the literature, only a few patients with cat-eye syndrome present with a severe developmental delay, and all of the latter carried an atypical partial trisomy 22 or an uncharacterized small supernumerary marker chromosome. Hence, this is the first report of a severe neurological phenotype in cat-eye syndrome with a typical type 1 small supernumerary marker chromosome. Our observation clearly complicates prognostic assessment, particularly when cat-eye syndrome is diagnosed prenatally.

  9. Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome

    Directory of Open Access Journals (Sweden)

    Guillaume Jedraszak

    2015-01-01

    Full Text Available Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. Many reported cases also presented with variable congenital anomalies and intellectual disability. Most patients diagnosed with CES carry a small supernumerary bisatellited marker chromosome, resulting in partial tetrasomy of 22p-22q11.21. There are two types of small supernumerary marker chromosome, depending on the breakpoint site. In a very small proportion of cases, other cytogenetic anomalies are reportedly associated with the cat-eye syndrome phenotype. Here, we report a patient with cat-eye syndrome caused by a type 1 small supernumerary marker chromosome. The phenotype was atypical and included a severe developmental delay. The use of array comparative genomic hybridization ruled out the involvement of another chromosomal imbalance in the neurological phenotype. In the literature, only a few patients with cat-eye syndrome present with a severe developmental delay, and all of the latter carried an atypical partial trisomy 22 or an uncharacterized small supernumerary marker chromosome. Hence, this is the first report of a severe neurological phenotype in cat-eye syndrome with a typical type 1 small supernumerary marker chromosome. Our observation clearly complicates prognostic assessment, particularly when cat-eye syndrome is diagnosed prenatally.

  10. Developmental Dynamics of Rett Syndrome.

    Science.gov (United States)

    Feldman, Danielle; Banerjee, Abhishek; Sur, Mriganka

    2016-01-01

    Rett Syndrome was long considered to be simply a disorder of postnatal development, with phenotypes that manifest only late in development and into adulthood. A variety of recent evidence demonstrates that the phenotypes of Rett Syndrome are present at the earliest stages of brain development, including developmental stages that define neurogenesis, migration, and patterning in addition to stages of synaptic and circuit development and plasticity. These phenotypes arise from the pleotropic effects of MeCP2, which is expressed very early in neuronal progenitors and continues to be expressed into adulthood. The effects of MeCP2 are mediated by diverse signaling, transcriptional, and epigenetic mechanisms. Attempts to reverse the effects of Rett Syndrome need to take into account the developmental dynamics and temporal impact of MeCP2 loss.

  11. Developmental coordination disorder

    Science.gov (United States)

    Developmental coordination disorder can lead to: Learning problems Low self-esteem resulting from poor ability at sports and teasing by other children Repeated injuries Weight gain as a result of not wanting to participate ...

  12. Facts about Developmental Disabilities

    Science.gov (United States)

    ... to maternal infections during pregnancy, such as cytomegalovirus (CMV) infection ; complications after birth; and head trauma. Some ... an increased risk for many developmental disabilities. Untreated newborn jaundice (high levels of bilirubin in the blood ...

  13. Developmental reading disorder

    Science.gov (United States)

    ... brain does not properly recognize and process certain symbols. It is also called dyslexia. Causes Developmental reading ... child's early reading skills are based on word recognition. That involves being able to separate out the ...

  14. Delayed radiation neuropathy

    International Nuclear Information System (INIS)

    Nagashima, Toshiko; Miyamoto, Kazuto; Beppu, Hirokuni; Hirose, Kazuhiko; Yamada, Katsuhiro

    1981-01-01

    A case of cervical plexus neuropathy was reported in association with chronic radio-dermatitis, myxedema with thyroid adenoma and epiglottic tumor. A 38-year-old man has noticed muscle weakness and wasting of the right shoulder girdle since age 33. A detailed history taking revealed a previous irradiation to the neck because of the cervical lymphadenopathy at age 10 (X-ray 3,000 rads), keroid skin change at age 19, obesity and edema since 26, and hoarseness at 34. Laryngoscopic examination revealed a tumor on the right vocal cord, diagnosed as benign papilloma by histological study. In addition, there were chronic radio-dermatitis around the neck, primary hypothyroidism with a benign functioning adenoma on the right lobe of the thyroid, the right phrenic nerve palsy and the right recurrent nerve palsy. All these lesions were considered to be the late sequellae of radiation to the neck in childhood. Other neurological signs were weakness and amyotrophy of the right shoulder girdle with patchy sensory loss, and areflexia of the right arm. Gross power was fairly well preserved in the right hand. EMG showed neurogenic changes in the tested muscles, suggesting a peripheral nerve lesion. Nerve conduction velocities were normal. No abnormal findings were revealed by myelography and spinal CT. The neurological findings of the patient were compatible with the diagnosis of middle cervical plexus palsy apparently due to late radiation effect. In the literature eight cases of post-radiation neuropathy with a long latency have been reported. The present case with the longest latency after the radiation should be included in the series of the reported cases of ''delayed radiation neuropathy.'' (author)

  15. Delayed radiation neuropathy

    Energy Technology Data Exchange (ETDEWEB)

    Nagashima, T.; Miyamoto, K.; Beppu, H.; Hirose, K.; Yamada, K. (Tokyo Metropolitan Neurological Hospital (Japan))

    1981-07-01

    A case of cervical plexus neuropathy was reported in association with chronic radio-dermatitis, myxedema with thyroid adenoma and epiglottic tumor. A 38-year-old man has noticed muscle weakness and wasting of the right shoulder girdle since age 33. A detailed history taking revealed a previous irradiation to the neck because of the cervical lymphadenopathy at age 10 (X-ray 3,000 rads), keroid skin change at age 19, obesity and edema since 26, and hoarseness at 34. Laryngoscopic examination revealed a tumor on the right vocal cord, diagnosed as benign papilloma by histological study. In addition, there were chronic radio-dermatitis around the neck, primary hypothyroidism with a benign functioning adenoma on the right lobe of the thyroid, the right phrenic nerve palsy and the right recurrent nerve palsy. All these lesions were considered to be the late sequellae of radiation to the neck in childhood. Other neurological signs were weakness and amyotrophy of the right shoulder girdle with patchy sensory loss, and areflexia of the right arm. Gross power was fairly well preserved in the right hand. EMG showed neurogenic changes in the tested muscles, suggesting a peripheral nerve lesion. Nerve conduction velocities were normal. No abnormal findings were revealed by myelography and spinal CT. The neurological findings of the patient were compatible with the diagnosis of middle cervical plexus palsy apparently due to late radiation effect. In the literature eight cases of post-radiation neuropathy with a long latency have been reported. The present case with the longest latency after the radiation should be included in the series of the reported cases of ''delayed radiation neuropathy.'' (author).

  16. Developmental Trajectories for Children With Dyslexia and Low IQ Poor Readers

    Science.gov (United States)

    2016-01-01

    Reading difficulties are found in children with both high and low IQ and it is now clear that both groups exhibit difficulties in phonological processing. Here, we apply the developmental trajectories approach, a new methodology developed for studying language and cognitive impairments in developmental disorders, to both poor reader groups. The trajectory methodology enables identification of atypical versus delayed development in datasets gathered using group matching designs. Regarding the cognitive predictors of reading, which here are phonological awareness, phonological short-term memory (PSTM) and rapid automatized naming (RAN), the method showed that trajectories for the two groups diverged markedly. Children with dyslexia showed atypical development in phonological awareness, while low IQ poor readers showed developmental delay. Low IQ poor readers showed atypical PSTM and RAN development, but children with dyslexia showed developmental delay. These divergent trajectories may have important ramifications for supporting each type of poor reader, although all poor readers showed weakness in all areas. Regarding auditory processing, the developmental trajectories were very similar for the two poor reader groups. However, children with dyslexia demonstrated developmental delay for auditory discrimination of Duration, while the low IQ children showed atypical development on this measure. The data show that, regardless of IQ, poor readers have developmental trajectories that differ from typically developing children. The trajectories approach enables differences in trajectory classification to be identified across poor reader group, as well as specifying the individual nature of these trajectories. PMID:27110928

  17. Prognostic factors of infantile spasms: role of treatment options including a ketogenic diet.

    Science.gov (United States)

    Lee, Jeehun; Lee, Jun Hwa; Yu, Hee Jun; Lee, Munhyang

    2013-09-01

    The aim of this study was to provide additional evidences on prognostic factors for infantile spasms and the possible role of a ketogenic diet. A retrospective analysis was performed for patients with infantile spasms who had been followed up for more than 6months between January 2000 and July 2012 at Samsung Medical Center (Seoul, Republic of Korea). We analyzed the association between possible prognostic factors and seizure/developmental outcomes. Sixty-nine patients were included in this study and their mean follow-up duration was 52.5 (9-147) months. In the patients who had been followed up for more than 2years, 53.6% (n=30/57) remained seizure-free at the last visit. Sixty patients (86.9%) showed developmental delay at last follow-up. Forty-two patients (60.9%) became spasm-free with one or two antiepileptic drugs, one patient with epilepsy surgery for a tumor, and seven patients with a ketogenic diet after the failure of two or more antiepileptic drugs. The etiology and age of seizure onset were the significant prognostic factors. In this study, about 60% of the patients became spasm-free with vigabatrin and topiramate. Ketogenic diet increased the rate by 10% in the remaining antiepileptic drug resistant patients. However, 86.9% of the patients showed developmental delay, mostly a severe degree. Early diagnosis and prompt application of treatment options such as antiepileptic drugs, a ketogenic diet or epilepsy surgery can improve outcomes in patients with infantile spasms. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  18. Behavioral variability, elimination of responses, and delay-of-reinforcement gradients in SHR and WKY rats

    Directory of Open Access Journals (Sweden)

    Killeen Peter R

    2007-11-01

    Full Text Available Abstract Background Attention-deficit/hyperactivity disorder (ADHD is characterized by a pattern of inattention, hyperactivity, and impulsivity that is cross-situational, persistent, and produces social and academic impairment. Research has shown that reinforcement processes are altered in ADHD. The dynamic developmental theory has suggested that a steepened delay-of-reinforcement gradient and deficient extinction of behavior produce behavioral symptoms of ADHD and increased behavioral variability. Method The present study investigated behavioral variability and elimination of non-target responses during acquisition in an animal model of ADHD, the spontaneously hypertensive rat (SHR, using Wistar Kyoto (WKY rats as controls. The study also aimed at providing a novel approach to measuring delay-of-reinforcement gradients in the SHR and the WKY strains. The animals were tested in a modified operant chamber presenting 20 response alternatives. Nose pokes in a target hole produced water according to fixed interval (FI schedules of reinforcement, while nose pokes in the remaining 19 holes either had no consequences or produced a sound or a short flickering of the houselight. The stimulus-producing holes were included to test whether light and sound act as sensory reinforcers in SHR. Data from the first six sessions testing FI 1 s were used for calculation of the initial distribution of responses. Additionally, Euclidean distance (measured from the center of each hole to the center of the target hole and entropy (a measure of variability were also calculated. Delay-of-reinforcement gradients were calculated across sessions by dividing the fixed interval into epochs and determining how much reinforcement of responses in one epoch contributed to responding in the next interval. Results Over the initial six sessions, behavior became clustered around the target hole. There was greater initial variability in SHR behavior, and slower elimination of

  19. Delayed breast implant reconstruction

    DEFF Research Database (Denmark)

    Hvilsom, Gitte B.; Hölmich, Lisbet R.; Steding-Jessen, Marianne

    2011-01-01

    Studies of complications following reconstructive surgery with implants among women with breast cancer are needed. As the, to our knowledge, first prospective long-term study we evaluated the occurrence of complications following delayed breast reconstruction separately for one- and two......-stage procedures. From the Danish Registry for Plastic Surgery of the Breast, which has prospectively registered data for women undergoing breast implantations since 1999, we identified 559 women without a history of radiation therapy undergoing 592 delayed breast reconstructions following breast cancer during...... of reoperation was significantly higher following the one-stage procedure. For both procedures, the majority of reoperations were due to asymmetry or displacement of the implant. In conclusion, non-radiated one- and two-stage delayed breast implant reconstructions are associated with substantial risks...

  20. The right time to happen: play developmental divergence in the two Pan species.

    Directory of Open Access Journals (Sweden)

    Elisabetta Palagi

    Full Text Available Bonobos, compared to chimpanzees, are highly motivated to play as adults. Therefore, it is interesting to compare the two species at earlier developmental stages to determine how and when these differences arise. We measured and compared some play parameters between the two species including frequency, number of partners (solitary, dyadic, and polyadic play, session length, and escalation into overt aggression. Since solitary play has a role in developing cognitive and physical skills, it is not surprising that chimpanzees and bonobos share similar developmental trajectories in the motivation to engage in this activity. The striking divergence in play developmental pathways emerged for social play. Infants of the two species showed comparable social play levels, which began to diverge during the juvenile period, a 'timing hotspot' for play development. Compared to chimpanzees, social play sessions in juvenile bonobos escalated less frequently into overt aggression, lasted longer, and frequently involved more than two partners concurrently (polyadic play. In this view, play fighting in juvenile bonobos seems to maintain a cooperative mood, whereas in juvenile chimpanzees it acquires more competitive elements. The retention of juvenile traits into adulthood typical of bonobos can be due to a developmental delay in social inhibition. Our findings show that the divergence of play ontogenetic pathways between the two Pan species and the relative emergence of play neotenic traits in bonobos can be detected before individuals reach sexual maturity. The high play motivation showed by adult bonobos compared to chimpanzees is probably the result of a long developmental process, rooted in the delicate transitional phase, which leads subjects from infancy to juvenility.

  1. Variation in Educational Services Receipt Among US Children With Developmental Conditions.

    Science.gov (United States)

    Lindly, Olivia J; Sinche, Brianna K; Zuckerman, Katharine E

    2015-01-01

    To examine the relationship between ease of access to needed community-based services (ease of access) and educational services receipt, and variation in educational services receipt by sociodemographic and need factors among a nationally representative sample of children with autism spectrum disorder (ASD), developmental delay (DD), and/or intellectual disability (ID). Data from the 2009-2010 National Survey of Children with Special Health Care Needs were linked to the 2011 Survey of Pathways to Diagnosis and Services on a sample of 3502 US children aged 6 to 17 years with ASD, DD, and/or ID. Descriptive statistics, chi-square tests, and multivariable logistic regression models were used to determine associations of educational services receipt with ease of access and sociodemographic and need factors. Among children with developmental conditions, nearly half (49.7%) lacked easy access to services, and 16.9% did not have an individualized education program (IEP). Among children with an IEP, those with ease of access were more likely to have an IEP that addressed parent concerns about the child's development and education than those unable to easily access services (adjusted odds ratio 2.77; 95% confidence interval 1.71-4.49). Need factors, including functional limitations status, care coordination need, developmental condition type, and early intervention receipt, were significantly associated with educational services receipt. Cross-systems initiatives facilitating service access remain important to ensuring the developmental needs of children with ASD, DD, and/or ID are met. Increased interprofessional collaboration promoting quality educational services receipt for children diagnosed with developmental conditions may further reduce disparities. Copyright © 2015 Academic Pediatric Association. Published by Elsevier Inc. All rights reserved.

  2. The DARWIN breadboard cryogenic optical delay line

    Science.gov (United States)

    van den Dool, T. C.; Gielesen, W.; Kamphues, F.; Loix, N.; Kooijman, P. P.; de Vries, C.; van Weers, H.; Fleury, K.; Stockman, Y.; Velsink, G.; Benoit, J.; Poupinet, A.; Sève, F.

    2017-11-01

    TNO, in cooperation with Micromega-Dynamics, SRON, Dutch Space and CSL, has designed a compact breadboard cryogenic delay line (figure 1) for use in future space interferometry missions. The work is performed under ESA contract 17.747/03 in preparation for the DARWIN mission. The breadboard (BB) delay line is representative of a flight mechanism. The delay line has a single stage voice coil actuator for Optical Path Difference (OPD) control, driving a twomirror cat's eye. Magnetic bearings provide frictionless and wear free operation with zero-hysteresis. The design of the BB delay line has been completed. The development test program, including operation at 100 K has been completed. The verification test programme is currently being carried out and will include functional testing at 40 K.

  3. Current status of developmental neurotoxicity: regulatory view

    DEFF Research Database (Denmark)

    Hass, Ulla

    2003-01-01

    . Until recently, however, developmental neurotoxicity testing of industrial chemicals has not been a clear regulatory requirement in EU, probably due to the lack of an accepted OECD TG. The revised EU Technical Guidance Document for Risk Assessment (EU-TGD) has now included the OECD draft TG 426...... in the testing strategy for new and existing substances, and biocides. Hopefully, this will lead to an improved database for risk assessment of potential developmental neurotoxicants. However, the regulatory authorities and toxicologists will also be faced with the challenge that decisions have to be made......The need for developmental neurotoxicity testing has been recognized for decades and guidelines are available, as the USEPA guideline and the OECD draft TG 426. Regulatory testing of industrial chemicals for developmental neurotoxicity is required to some extent, especially for pesticides in the US...

  4. Developmental immunotoxicity testing of 4-methyl anisole.

    Science.gov (United States)

    Tonk, Elisa C M; Verhoef, Aart; Gremmer, Eric R; van Loveren, Henk; Piersma, Aldert H

    2015-07-01

    The developmental immunotoxicity of 4-methyl anisole (4MA) was investigated in the rat. Four study designs were used, with either premating or post-weaning onset of exposure, continued to postnatal day 50, and with or without additional oral gavage of pups from postnatal day 10 onward. Reduced litter size (benchmark dose lower confidence limit (BMDL) 80mg/kg bw/day) was the most sensitive developmental parameter, with pup relative organ weight effects observed at similar BMDLs, in the absence of maternal toxicity. Eosinophil numbers were reduced at lower doses (BMDL 16mg/kg bw/day). KLH challenge resulted in increased IL-13 and TNF-α responses, and variably reduced IgG production (BMDL 27mg/kg bw/day). T4 levels were reduced by 11% at maximum with a BMDL of 73mg/kg bw/day. Differences between exposure cohorts were limited and were considered to be without biological significance. This study shows that 4MA induces developmental immunotoxicity at doses below those inducing developmental and general toxicity. These observations being independent of the study designs applied suggest that the post-weaning period, included in all designs, is the most relevant sensitive period for inducing 4MA mediated developmental immunotoxicity. Moreover, this study stresses the importance of including developmental immunotoxicity testing by default in regulatory toxicology. Copyright © 2015 Elsevier Inc. All rights reserved.

  5. Delays in the operating room: signs of an imperfect system.

    Science.gov (United States)

    Wong, Janice; Khu, Kathleen Joy; Kaderali, Zul; Bernstein, Mark

    2010-06-01

    Delays in the operating room have a negative effect on its efficiency and the working environment. In this prospective study, we analyzed data on perioperative system delays. One neurosurgeon prospectively recorded all errors, including perioperative delays, for consecutive patients undergoing elective procedures from May 2000 to February 2009. We analyzed the prevalence, causes and impact of perioperative system delays that occurred in one neurosurgeon's practice. A total of 1531 elective surgical cases were performed during the study period. Delays were the most common type of error (33.6%), and more than half (51.4%) of all cases had at least 1 delay. The most common cause of delay was equipment failure. The first cases of the day and cranial cases had more delays than subsequent cases and spinal cases, respectively. A delay in starting the first case was associated with subsequent delays. Delays frequently occur in the operating room and have a major effect on patient flow and resource utilization. Thorough documentation of perioperative delays provides a basis for the development of solutions for improving operating room efficiency and illustrates the principles underlying the causes of operating room delays across surgical disciplines.

  6. Metabolic Screening in Children with Neurodevelopmental Delay, Seizure and/or Regression.

    Science.gov (United States)

    Karimzadeh, Parvaneh; Taghdiri, Mohammad Mahdi; Abasi, Ezatollah; Hassanvand Amouzadeh, Masoud; Naghavi, Zhila; Ghazavi, Ahad; Nasehi, Mohammad Mahdi; Alipour, Abbas

    2017-01-01

    Neurometabolic disorder is one of the important groups of diseases that prominently has presentation early infantile period. In this study, we evaluated the result of metabolic screening of the patient with seizure, developmental delay and/or regression in development, demographic disease clinical and radiological findings on admitted and outpatient visited children. Two-year retrospective review of 187 children with seizure, developmental delay and/or regression in the Mofid Children Hospital, Tehran, Iran was performed. The diagnosis was based on observation, findings of EEG and history of the patient, besides evaluation of patient milestones. The result of metabolic screening with Tandem mass spectrometry was evaluated using SPSS (ver.18.0) Statistical software. Totally, 187 children with seizure, regression and/or developmental delay were evaluated by metabolic screening with tandem mass spectrometry method. The results of laboratory examination had no relationship between positive results of metabolic screening and the mentioned disease. The relations between positive results of metabolic screening and seizure, regression and/or developmental delay were not statistically meaningful. Positive results of metabolic screening and seizure, regression and/or developmental delay were not statistically meaningful.

  7. Delays in Building Construction Projects in Ghana

    Directory of Open Access Journals (Sweden)

    Frank DK Fugar

    2010-07-01

    Full Text Available This study investigates the causes of delay of building construction projects in Ghana to determine the most important according to the key project participants; clients, consultants, and contractors. Thirty-two possible causes of delay were identified from the literature and semi-structured interviews of 15 key players in the implementation process. These delay factors were further categorised into nine major groups. The list of delay causes was subjected to a questionnaire survey for the identification of the most important causes of delay. The field survey included 130 respondents made up of 39 contractors, 37 clients and 54 consultants. The relative importance of the individual causes and the groups were calculated and ranked by their relative importance index. The overall results of the study indicate that the respondents generally agree that financial group factors ranked highest among the major factors causing delay in construction projects in Ghana. The financial group factors were delay in honouring payment certificates, difficulty in accessing credit and fluctuation in prices. Materials group factors are second followed by scheduling and controlling factors.

  8. Delayed photon selfinterference

    International Nuclear Information System (INIS)

    Kessel', A.R.; Moiseev, S.A.

    1993-01-01

    Delayed photon selfinterference on a sample containing resonant two-level atoms is considered when the difference in the lengths in two optical paths exceeds the photon 'length'. It is shown that a reading pulse of the electromagnetic field can induce photon echo

  9. Permissible Delay in Payments

    Directory of Open Access Journals (Sweden)

    Yung-Fu Huang

    2007-01-01

    Full Text Available The main purpose of this paper wants to investigate the optimal retailer's lot-sizing policy with two warehouses under partially permissible delay in payments within the economic order quantity (EOQ framework. In this paper, we want to extend that fully permissible delay in payments to the supplier would offer the retailer partially permissible delay in payments. That is, the retailer must make a partial payment to the supplier when the order is received. Then the retailer must pay off the remaining balance at the end of the permissible delay period. In addition, we want to add the assumption that the retailer's storage space is limited. That is, the retailer will rent the warehouse to store these exceeding items when the order quantity is larger than retailer's storage space. Under these conditions, we model the retailer's inventory system as a cost minimization problem to determine the retailer's optimal cycle time and optimal order quantity. Three theorems are developed to efficiently determine the optimal replenishment policy for the retailer. Finally, numerical examples are given to illustrate these theorems and obtained a lot of managerial insights.

  10. Estimating Delays In ASIC's

    Science.gov (United States)

    Burke, Gary; Nesheiwat, Jeffrey; Su, Ling

    1994-01-01

    Verification is important aspect of process of designing application-specific integrated circuit (ASIC). Design must not only be functionally accurate, but must also maintain correct timing. IFA, Intelligent Front Annotation program, assists in verifying timing of ASIC early in design process. This program speeds design-and-verification cycle by estimating delays before layouts completed. Written in C language.

  11. Delays of Interconnected Flows

    Science.gov (United States)

    Sorger, U.; Suchanecki, Z.

    2011-07-01

    A rigorous approach to flows of particles in networks is presented. Under the assumption of independence of the transversal flows the asymptotic distributions of inter-delay times between particles are shown to be log-normal. In the case of dependent transversal traffic the ARCH and GARCH time series models, as well as martingale approach, have been applied.

  12. Plasmas for Transition Delay

    NARCIS (Netherlands)

    Kotsonis, M.; Boon, P.; Veldhuis, L.

    2009-01-01

    This paper describes the experimental investigation of the properties of Dielectric Barrier Discharge (DBD) actuators aimed at transition delay techniques. A wide range of geometrical configurations are tested as well as several electrical operational conditions. For the majority of the measurements

  13. Consensus Statement : Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

    NARCIS (Netherlands)

    Miller, David T.; Adam, Margaret P.; Aradhya, Swaroop; Biesecker, Leslie G.; Brothman, Arthur R.; Carter, Nigel P.; Church, Deanna M.; Crolla, John A.; Eichler, Evan E.; Epstein, Charles J.; Faucett, W. Andrew; Feuk, Lars; Friedman, Jan M.; Hamosh, Ada; Jackson, Laird; Kaminsky, Erin B.; Kok, Klaas; Krantz, Ian D.; Kuhn, Robert M.; Lee, Charles; Ostell, James M.; Rosenberg, Carla; Scherer, Stephen W.; Spinner, Nancy B.; Stavropoulos, Dimitri J.; Tepperberg, James H.; Thorland, Erik C.; Vermeesch, Joris R.; Waggoner, Darrel J.; Watson, Michael S.; Martin, Christa Lese; Ledbetter, David H.

    2010-01-01

    Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). Performing CMA and G-banded karyotyping on every patient

  14. Types ofpsychomotor developmental disorders inchildren before theage of3 years and the meaning of the early intervention for thechild’s future development – preliminary research

    Directory of Open Access Journals (Sweden)

    Anna Klimek

    2012-09-01

    Full Text Available Aim of the study: The analysis of the types of developmental disorders in early childhood. Material and methods: Seventy-one children at the age from 7 days to 3 years who came to The Early Intervention Centre for Handicapped Children “Give the Chance” at University Children’s Clinical Hospital in Bialystok in 2010 were examined. There were 46 (65% boys and 25 (35% girls in that group. The most common reason for coming to the Centre was the psychomotor retardation – 38 (54% subjects. In the Centre the diagnosis included: developmental interview, psychological, pedagogical and speech-therapy research. The evaluation of the psychomotor development in the psychological investigation was made using the Brunet-Lézine Scale of Psychomotor Development. The opinion on the symptoms of pervasive developmental disorder was based on diagnostic criteria contained in ICD-10. Results: The delayed development of the active speech was diagnosed in 71 (100% subjects. Forty-one (58% patients had psychomotor retardation without the features of the pervasive developmental disorder. Pervasive developmental disorder was diagnosed in 19 (27% subjects. The quotient of the psychomotor development was 77. Therapeutic influences included: psychoeducation – 65 (92% subjects, pedagogical therapy and speech-therapy – 13 (18% subjects, emotional support – 65 (92% subjects, systematic group classes for parents – 10 (14% subjects. Conclusions: 1 The developmental disorder was diagnosed in the majority of the examined children – 41 (58% subjects. 2 Pervasive developmental disorder was diagnosed in 19 (27% subjects, which is in accordance with the worldwide tendency for the growth of the number of diagnosis connected with this disorder (“autism epidemics”.

  15. Prefrontal Hemodynamics in Toddlers at Rest: A Pilot Study of Developmental Variability

    Directory of Open Access Journals (Sweden)

    Afrouz A. Anderson

    2017-05-01

    Full Text Available Functional near infrared spectroscopy (fNIRS is a non-invasive functional neuroimaging modality. Although, it is amenable to use in infants and young children, there is a lack of fNIRS research within the toddler age range. In this study, we used fNIRS to measure cerebral hemodynamics in the prefrontal cortex (PFC in 18–36 months old toddlers (n = 29 as part of a longitudinal study that enrolled typically-developing toddlers as well as those “at risk” for language and other delays based on presence of early language delays. In these toddlers, we explored two hemodynamic response indices during periods of rest during which time audiovisual children's programming was presented. First, we investigate Lateralization Index, based on differences in oxy-hemoglobin saturation from left and right prefrontal cortex. Then, we measure oxygenation variability (OV index, based on variability in oxygen saturation at frequencies attributed to cerebral autoregulation. Preliminary findings show that lower cognitive (including language abilities are associated with fNIRS measures of both lower OV index and more extreme Lateralization index values. These preliminary findings show the feasibility of using fNIRS in toddlers, including those at risk for developmental delay, and lay the groundwork for future studies.

  16. Emotion Word Comprehension from 4 to 16 Years Old: A Developmental Survey

    Science.gov (United States)

    Baron-Cohen, Simon; Golan, Ofer; Wheelwright, Sally; Granader, Yael; Hill, Jacqueline

    2010-01-01

    Background: Whilst previous studies have examined comprehension of the emotional lexicon at different ages in typically developing children, no survey has been conducted looking at this across different ages from childhood to adolescence. Purpose: To report how the emotion lexicon grows with age. Method: Comprehension of 336 emotion words was tested in n = 377 children and adolescents, aged 4–16 years old, divided into 6 age-bands. Parents or teachers of children under 12, or adolescents themselves, were asked to indicate which words they knew the meaning of. Results: Between 4 and 11 years old, the size of the emotional lexicon doubled every 2 years, but between 12 and 16 years old, developmental rate of growth of the emotional lexicon leveled off. This survey also allows emotion words to be ordered in terms of difficulty. Conclusions: Studies using emotion terms in English need to be developmentally sensitive, since during childhood there is considerable change. The absence of change after adolescence may be an artifact of the words included in this study. This normative developmental data-set for emotion vocabulary comprehension may be useful when testing for delays in this ability, as might arise for environmental or neurodevelopmental reasons. PMID:21151378

  17. The effects of tritiated water on some developmental stages of tilapia nilotica

    International Nuclear Information System (INIS)

    Carino, V.S.

    1986-01-01

    Seven developmental stages of Tilapia nilotica from gastrula (11 hr) to the active feeding and free swimming stage (10-d) were reared in tritiated water of concentrations 10 -3 10 -2 and 10 -1 Ci 1 -1 . The fish were reared for different lengths of time, the first group for the period till the next developmental stage and the second group till 3 weeks of age or day 21. Treated and control specimens were compared. An over-all delay in development was noted both at the gross morphological and the histological levels in the experimental fish. Growth was stunted. Many had unresorped yolk which was observable externally in the distended abdomens and histologically within the liver. Percent survival was lower in the treated fish and this was, in general, inversely related to developmental stage and tritium concentration of the rearing water. Posthatch larvae were sluggish to inactive. The liver exhibited histological aberrations which include the presence of adipose cells in place of liver parenchyma in the more anterior liver regions. Brains of treated fish, in general were smaller. One instance of an abnormal brain growth and findings on the retinal epithelium, spleen and pancreas are described. Development of gonads and digestive tract was, in general, retarded. (Auth.) 40 refs.; 5 tabs

  18. Reading in developmental prosopagnosia

    DEFF Research Database (Denmark)

    Starrfelt, Randi; Klargaard, Solja K; Petersen, Anders

    2018-01-01

    OBJECTIVE: Recent models suggest that face and word recognition may rely on overlapping cognitive processes and neural regions. In support of this notion, face recognition deficits have been demonstrated in developmental dyslexia. Here we test whether the opposite association can also be found......, that is, impaired reading in developmental prosopagnosia. METHOD: We tested 10 adults with developmental prosopagnosia and 20 matched controls. All participants completed the Cambridge Face Memory Test, the Cambridge Face Perception test and a Face recognition questionnaire used to quantify everyday face...... recognition experience. Reading was measured in four experimental tasks, testing different levels of letter, word, and text reading: (a) single word reading with words of varying length,(b) vocal response times in single letter and short word naming, (c) recognition of single letters and short words at brief...

  19. Developmental neurotoxicity of industrial chemicals.

    Science.gov (United States)

    Grandjean, P; Landrigan, P J

    2006-12-16

    Neurodevelopmental disorders such as autism, attention deficit disorder, mental retardation, and cerebral palsy are common, costly, and can cause lifelong disability. Their causes are mostly unknown. A few industrial chemicals (eg, lead, methylmercury, polychlorinated biphenyls [PCBs], arsenic, and toluene) are recognised causes of neurodevelopmental disorders and subclinical brain dysfunction. Exposure to these chemicals during early fetal development can cause brain injury at doses much lower than those affecting adult brain function. Recognition of these risks has led to evidence-based programmes of prevention, such as elimination of lead additives in petrol. Although these prevention campaigns are highly successful, most were initiated only after substantial delays. Another 200 chemicals are known to cause clinical neurotoxic effects in adults. Despite an absence of systematic testing, many additional chemicals have been shown to be neurotoxic in laboratory models. The toxic effects of such chemicals in the developing human brain are not known and they are not regulated to protect children. The two main impediments to prevention of neurodevelopmental deficits of chemical origin are the great gaps in testing chemicals for developmental neurotoxicity and the high level of proof required for regulation. New, precautionary approaches that recognise the unique vulnerability of the developing brain are needed for testing and control of chemicals.

  20. The Developmental Work

    DEFF Research Database (Denmark)

    Møller, Niels; Hvid, Helge

    2001-01-01

    AbstractIn the nineties, the concept of the developmental work (DW) has become a significant point of orientation for the actors on Danish labour market. The DW has moved the focus of the labour market from wages and working time towards work and production. For employees, the DW promises...... developmental possibilities, influence and responsibility, but also greater social responsibility for the firm. For firms, the DW promises increased competitiveness and better products. In this paper we present the concept of the DW as one which encourages the development of work, production and organisation...

  1. Developmental Perspectives on Nutrition and Obesity From Gestation to Adolescence

    OpenAIRE

    Huang, Terry T.; Esposito, Layla; Fisher, Jennifer O.; Mennella, Julie A.; Hoelscher, Deanna M.

    2009-01-01

    Obesity results from a complex combination of factors that act at many stages throughout a person's life. Therefore, examining childhood nutrition and obesity from a developmental perspective is warranted. A developmental perspective recognizes the cumulative effects of factors that contribute to eating behavior and obesity, including biological and socioenvironmental factors that are relevant at different stages of development. A developmental perspective considers family, school, and commun...

  2. Delayed antibiotic prescriptions for respiratory infections.

    Science.gov (United States)

    Spurling, Geoffrey Kp; Del Mar, Chris B; Dooley, Liz; Foxlee, Ruth; Farley, Rebecca

    2017-09-07

    Concerns exist regarding antibiotic prescribing for respiratory tract infections (RTIs) owing to adverse reactions, cost, and antibacterial resistance. One proposed strategy to reduce antibiotic prescribing is to provide prescriptions, but to advise delay in antibiotic use with the expectation that symptoms will resolve first. This is an update of a Cochrane Review originally published in 2007, and updated in 2010 and 2013. To evaluate the effects on clinical outcomes, antibiotic use, antibiotic resistance, and patient satisfaction of advising a delayed prescription of antibiotics in respiratory tract infections. For this 2017 update we searched the Cochrane Central Register of Controlled Trials (CENTRAL) (the Cochrane Library, Issue 4, 2017), which includes the Cochrane Acute Respiratory Infection Group's Specialised Register; Ovid MEDLINE (2013 to 25 May 2017); Ovid Embase (2013 to 2017 Week 21); EBSCO CINAHL Plus (1984 to 25 May 2017); Web of Science (2013 to 25 May 2017); WHO International Clinical Trials Registry Platform (1 September 2017); and ClinicalTrials.gov (1 September 2017). Randomised controlled trials involving participants of all ages defined as having an RTI, where delayed antibiotics were compared to immediate antibiotics or no antibiotics. We defined a delayed antibiotic as advice to delay the filling of an antibiotic prescription by at least 48 hours. We considered all RTIs regardless of whether antibiotics were recommended or not. We used standard Cochrane methodological procedures. Three review authors independently extracted and collated data. We assessed the risk of bias of all included trials. We contacted trial authors to obtain missing information. For this 2017 update we added one new trial involving 405 participants with uncomplicated acute respiratory infection. Overall, this review included 11 studies with a total of 3555 participants. These 11 studies involved acute respiratory infections including acute otitis media (three studies

  3. Neurobehavioural effects of developmental toxicity

    DEFF Research Database (Denmark)

    Grandjean, Philippe; Landrigan, Philip J

    2014-01-01

    Neurodevelopmental disabilities, including autism, attention-deficit hyperactivity disorder, dyslexia, and other cognitive impairments, affect millions of children worldwide, and some diagnoses seem to be increasing in frequency. Industrial chemicals that injure the developing brain are among...... chemicals should not be presumed to be safe to brain development, and chemicals in existing use and all new chemicals must therefore be tested for developmental neurotoxicity. To coordinate these efforts and to accelerate translation of science into prevention, we propose the urgent formation of a new...

  4. The Developmental Origins of Dehumanization.

    Science.gov (United States)

    McLoughlin, Niamh; Over, Harriet

    2018-01-01

    Dehumanization is a complex social phenomenon, intimately connected to intergroup harm and neglect. However, developmental research has only recently started to investigate this important topic. In this chapter, we review research in areas closely related to dehumanization including children's intergroup preferences, essentialist conceptions of social groups, and understanding of relative status. We then highlight the small number of recent studies that have investigated the development of this social bias more directly. We close by making a series of suggestions for future research that will enable us to better understand the nature and causes of this harmful phenomenon. © 2018 Elsevier Inc. All rights reserved.

  5. Time-Delay Interferometry

    Directory of Open Access Journals (Sweden)

    Massimo Tinto

    2014-08-01

    Full Text Available Equal-arm detectors of gravitational radiation allow phase measurements many orders of magnitude below the intrinsic phase stability of the laser injecting light into their arms. This is because the noise in the laser light is common to both arms, experiencing exactly the same delay, and thus cancels when it is differenced at the photo detector. In this situation, much lower level secondary noises then set the overall performance. If, however, the two arms have different lengths (as will necessarily be the case with space-borne interferometers, the laser noise experiences different delays in the two arms and will hence not directly cancel at the detector. In order to solve this problem, a technique involving heterodyne interferometry with unequal arm lengths and independent phase-difference readouts has been proposed. It relies on properly time-shifting and linearly combining independent Doppler measurements, and for this reason it has been called time-delay interferometry (TDI. This article provides an overview of the theory, mathematical foundations, and experimental aspects associated with the implementation of TDI. Although emphasis on the application of TDI to the Laser Interferometer Space Antenna (LISA mission appears throughout this article, TDI can be incorporated into the design of any future space-based mission aiming to search for gravitational waves via interferometric measurements. We have purposely left out all theoretical aspects that data analysts will need to account for when analyzing the TDI data combinations.

  6. A study looking at the effectiveness of developmental screening in identifying learning disabilities in early childhood.

    Science.gov (United States)

    Flanagan, O; Nualláin, S O

    2001-05-01

    This is a retrospective study of children under six years of age referred to the Brothers of Charity Early Intervention Services in County Galway, a service that caters for children under 6 years with learning disabilities. The aim in doing this study was to assess the value of routine developmental screening in identifying children with learning difficulties. This study also investigates the patterns and sources of referral to the remedial services provided by the Brothers of Charity and highlights possible avoidable delays in referral. The results showed that many children were referred for remedial services late. The reasons for late referral included late identification of some children with problems, insufficient co-ordination of community-based services and a lack of awareness of the importance of early intervention in some cases. As some communication disorders such as autism, autistic spectrum disorders and specific language delay may not express themselves until the later part of the second year of life, the 18-24 month developmental assessment is of vital importance. However identification of these disorders can present difficulties and may call for additional training for professionals involved in the developmental screening of children in that age group. The interval between initial identification and referral for remedial care in many cases was more than twelve months. We propose that, in order to minimize this time, children requiring a more in-depth assessment should be assessed by a community-based multidisciplinary team, enabling integrated assessment by the different disciplines and thus speedier referral to remedial services.

  7. Developmental Exposure to an Environmental PCB Mixture ...

    Science.gov (United States)

    Developmental PCB exposure impairs hearing and induces brainstem audiogenic seizures in adult offspring. The degree to which this enhanced susceptibility to seizure is manifest in other brain regions has not been examined. Thus, electrical kindling of the amygdala was used to evaluate the effect of developmental exposure to an environmentally relevant PCB mixture on seizure susceptibility in the rat. Female Long-Evans rats were dosed orally with 0 or 6 mg/kg/day of the PCB mixture dissolved in corn oil vehicle during the perinatal period. On postnatal day (PND) 21, pups were weaned, and two males from each litter were randomly selected for the kindling study. As adults, the male rats were implanted bilaterally with electrodes in the basolateral amygdala. For each animal, afterdischarge (AD) thresholds in the amygdala were determined on the first day of testing followed by once daily stimulation at a standard 200 µA stimulus intensity until three stage 5 generalized seizures (GS) ensued. Developmental PCB exposure did not affect the AD threshold or total cumulative AD duration, but PCB exposure did increase the latency to behavioral manifestations of seizure propagation. PCB exposed animals required significantly more stimulations to reach stage 2 seizures compared to control animals, indicating an attenuated focal (amygdala) excitability. A delay in kindling progression from a focally stimulated limbic site stands in contrast to our previous finding of increase

  8. Spelling impairments in Italian dyslexic children with and without a history of early language delay. Are there any differences?

    Directory of Open Access Journals (Sweden)

    Paola eAngelelli

    2016-04-01

    Full Text Available Language delay is considered a frequent antecedent of literacy problems and both may be linked to phonological impairment. However, while several studies have examined the relationship between language delay and reading impairment, relatively few have focused on spelling.In this study, spelling performance of 28 children with developmental dyslexia (DD, 14 children with a history of language delay (LD and 14 children without (NoLD and 28 control participants were examined.Spelling was investigated by writing a dictation task that included orthographically regular stimuli (word and nonwords, as well as words with unpredictable transcription.Results indicated that all dyslexic participants underperformed compared to controls on both regular and unpredictable transcription stimuli, but LD performance was generally the worst. Moreover, spelling impairment assumed different characteristics in LD and NoLD children. LD children were more sensitive to acoustic-to-phonological variables, showing relevant failure especially on stimuli containing geminate consonants but also on polysyllabic stimuli and those containing non-continuant consonants. Error analysis confirmed these results, with LD children producing a higher rate of phonological errors respect to NoLD children and controls. Results were coherent with the hypothesis that among dyslexic children, those with previous language delay have more severe spelling deficit, suffering from defective orthographic lexical acquisition together with long-lasting phonological difficulties.

  9. Spelling Impairments in Italian Dyslexic Children with and without a History of Early Language Delay. Are There Any Differences?

    Science.gov (United States)

    Angelelli, Paola; Marinelli, Chiara V; Iaia, Marika; Putzolu, Anna; Gasperini, Filippo; Brizzolara, Daniela; Chilosi, Anna M

    2016-01-01

    Language delay is considered a frequent antecedent of literacy problems and both may be linked to phonological impairment. However, while several studies have examined the relationship between language delay and reading impairment, relatively few have focused on spelling. In this study, spelling performance of 28 children with developmental dyslexia (DD), 14 children with a history of language delay (LD), and 14 children without (NoLD) and 28 control participants were examined. Spelling was investigated by a writing to dictation task that included orthographically regular stimuli (word and non-words), as well as words with unpredictable transcription. Results indicated that all dyslexic participants underperformed compared to controls on both regular and unpredictable transcription stimuli, but LD performance was generally the worst. Moreover, spelling impairment assumed different characteristics in LD and NoLD children. LD children were more sensitive to acoustic-to-phonological variables, showing relevant failure especially on stimuli containing geminate consonants but also on polysyllabic stimuli and those containing non-continuant consonants. Error analysis confirmed these results, with LD children producing a higher rate of phonological errors respect to NoLD children and controls. Results were coherent with the hypothesis that among dyslexic children, those with previous language delay have more severe spelling deficit, suffering from defective orthographic lexical acquisition together with long-lasting phonological difficulties.

  10. Developmental Screening Disparities for Languages Other than English and Spanish.

    Science.gov (United States)

    Knuti Rodrigues, Kristine; Hambidge, Simon J; Dickinson, Miriam; Richardson, Douglas B; Davidson, Arthur J

    2016-01-01

    Limited English proficiency (LEP) is a known barrier to preventive care. Children from families with LEP face socioeconomic circumstances associated with increased odds of developmental delays and decreased participation in early care and education programs. Little is known about developmental surveillance and screening for children from families who speak languages other than English and Spanish. We sought to compare developmental surveillance and screening at well-child visits (WCVs) by preferred parental language. Using a retrospective cohort (n = 15,320) of children aged 8 to 40 months with ≥2 WCVs from January 1, 2006, to July 1, 2010, in a community health system, 450 children from 3 language groups (150 English, 150 Spanish, and 150 non-English, non-Spanish) were randomly selected. Chart review assessed 2 primary outcomes, developmental surveillance at 100% of WCVs and screened with a standardized developmental screening tool, and also determined whether children were referred for diagnostic developmental evaluation. Bivariate and multiple logistic regression analyses were conducted. Compared to the English-speaking group, the non-English, non-Spanish group had lower odds of receiving developmental surveillance at 100% of WCVs (odds ratio, 0.3; 95% confidence interval, 0.2, 0.5) and of being screened with a standardized developmental screening tool (odds ratio, 0.1; 95% confidence interval, 0.1, 0.2). There were no differences between the English- and Spanish-speaking groups. Though underpowered, no differences were found for referral. Improved developmental surveillance and screening are needed for children from families who speak languages other than English and Spanish. Lack of statistically significant differences between English- and Spanish-speaking groups suggests that improved translation and interpretation resources may decrease disparities. Copyright © 2016 Academic Pediatric Association. Published by Elsevier Inc. All rights reserved.

  11. An Examination of Specific Child Behavior Problems as Predictors of Parenting Stress among Families of Children with Pervasive Developmental Disorders

    Science.gov (United States)

    Davis, Allyson L.; Neece, Cameron L.

    2017-01-01

    Introduction: Studies have shown that parents of children with pervasive developmental disorders (PDD) exhibit higher levels of stress than parents of typically developing children or children with other types of developmental delays (DD). This relationship appears to be mediated by elevated levels of behavior problems observed in children with…

  12. Diagnostic accuracy of developmental screening in primary care at the 18-month health supervision visit : A cross-sectional study

    NARCIS (Netherlands)

    van den Heuvel, Meta; Borkhoff, Cornelia M; Koroshegyi, Christine; Zabih, Weeda; Reijneveld, Sijmen A; Maguire, Jonathon; Birken, Catherine; Parkin, Patricia

    2016-01-01

    BACKGROUND: Communication delays are often the first presenting problem in infants with a range of developmental disabilities. Our objective was to assess the validity of the 18-month Nipissing District Developmental Screen compared with the Infant Toddler Checklist, a validated tool for detecting

  13. The role of delay in the dynamics of nuclear reactors

    International Nuclear Information System (INIS)

    Svitra, D.; Bucys, K.

    1999-01-01

    The stability of nuclear reactors based on nonlinear models of reactor dynamics including the action of delayed neutrons is analysed. The point model of reactor dynamics with the system of seven nonlinear simple differential equations was changed to the system of two nonlinear differential equations including the action of delay. The method of the theory of bifurcations for nonlinear differential equations with delay is used. (author)

  14. Delayed coker fractionator advanced control

    Energy Technology Data Exchange (ETDEWEB)

    Jaisinghani, R.; Minter, B. (ABB SIMCON Inc., Houston, TX (United States)); Tica, A.; Puglesi, A.; Ojeda, R. (Yacimentos Petroliferos Fiscales, Mendoza (Argentina))

    1993-08-01

    In a delayed coking process, as coke drum switches are made, rapid changes occur in both the fractionator feed rate and composition. With conventional control, it is not unusual to see long transient behavior of large swings in both quality and flowrates of coker gas oils. This can extract a heavy economic toll, not only in coker operation, but in the operation of downstream units as the upset is propagated. An advanced process control application (APC) was recently implemented on the coker fractionator at the Yacimentos Petroliferos Fiscales (YPF), Lujan de Cuyo Refinery, in Mendoza, Argentina. This coker fractionator control design was unique as it handled two different operating objectives: control of product qualities via tower temperature profile during normal operation and control of gas oil product flow ratio during drum switch. This combination of control objectives in one multivariable predictive control program was achieved by including special logic to decouple the individual tuning requirements. Also, additional logic was included to unambiguously detect and identify drum switch and drum steam out as discrete events within 30 seconds of their actual occurrence. These discrete events were then used as disturbance variables to minimize fractionator transient behavior. As a performance measure, the overhead temperature was controlled within 2 C to 2.5 C of its target, gas oil flows were stabilized during drum switches and steam generation via pump around was maximized. Overall, implementing advanced control for the delayed coker fractionator resulted in substantial benefits from product quality control, product flow control and minimized energy consumption.

  15. Developmental paediatric anaesthetic pharmacology

    DEFF Research Database (Denmark)

    Hansen, Tom Giedsing

    2015-01-01

    Safe and effective drug therapy in neonates, infants and children require detailed knowledge about the ontogeny of drug disposition and action as well how these interact with genetics and co-morbidity of children. Recent advances in developmental pharmacology in children follow the increased...

  16. Learning Developmental Coaching

    Science.gov (United States)

    Hunt, James M.; Weintraub, Joseph R.

    2004-01-01

    This article describes an educational intervention designed to promote the ability and willingness of MBA students to lead through coaching. MBA leadership students are trained to serve as coaches for undergraduate business students in a developmental assessment center. In this compelling context, their main source of influence is the ability to…

  17. Alcoholism: A Developmental Disorder.

    Science.gov (United States)

    Tarter, Ralph E.; Vanyukov, Michael

    1994-01-01

    Alcoholism etiology is discussed from developmental behavior genetic perspective. Temperament features that appear to be associated with heightened risk for alcoholism are examined. Their interactions with the environment during course of development are considered within epigenetic framework and, as discussed, have ramifications for improving…

  18. Evolutionary Developmental Psychology.

    Science.gov (United States)

    Geary, David C.; Bjorklund, David F.

    2000-01-01

    Describes evolutionary developmental psychology as the study of the genetic and ecological mechanisms that govern the development of social and cognitive competencies common to all human beings and the epigenetic (gene-environment interactions) processes that adapt these competencies to local conditions. Outlines basic assumptions and domains of…

  19. Delayed Speech or Language Development

    Science.gov (United States)

    ... Safe Videos for Educators Search English Español Delayed Speech or Language Development KidsHealth / For Parents / Delayed Speech ... their child is right on schedule. How Are Speech and Language Different? Speech is the verbal expression ...

  20. Developmental neurotoxicity of succeeding generations of insecticides.

    Science.gov (United States)

    Abreu-Villaça, Yael; Levin, Edward D

    2017-02-01

    Insecticides are by design toxic. They must be toxic to effectively kill target species of insects. Unfortunately, they also have off-target toxic effects that can harm other species, including humans. Developmental neurotoxicity is one of the most prominent off-target toxic risks of insecticides. Over the past seven decades several classes of insecticides have been developed, each with their own mechanisms of effect and toxic side effects. This review covers the developmental neurotoxicity of the succeeding generations of insecticides including organochlorines, organophosphates, pyrethroids, carbamates and neonicotinoids. The goal of new insecticide development is to more effectively kill target species with fewer toxic side effects on non-target species. From the experience with the developmental neurotoxicity caused by the generations of insecticides developed in the past advice is offered how to proceed with future insecticide development to decrease neurotoxic risk. Copyright © 2016 Elsevier Ltd. All rights reserved.

  1. Diagnosis delay in Libyan female breast cancer

    Directory of Open Access Journals (Sweden)

    Ermiah Eramah

    2012-08-01

    Full Text Available Abstract Aims To study the diagnosis delay and its impact on stage of disease among women with breast cancer on Libya. Methods 200 women, aged 22 to 75 years with breast cancer diagnosed during 2008–2009 were interviewed about the period from the first symptoms to the final histological diagnosis of breast cancer. This period (diagnosis time was categorized into 3 periods: 6 months. If diagnosis time was longer than 3 months, the diagnosis was considered delayed (diagnosis delay. Consultation time was the time taken to visit the general practitioner after the first symptoms. Retrospective preclinical and clinical data were collected on a form (questionnaire during an interview with each patient and from medical records. Results The median of diagnosis time was 7.5 months. Only 30.0% of patients were diagnosed within 3 months after symptoms. 14% of patients were diagnosed within 3–6 months and 56% within a period longer than 6 months. A number of factors predicted diagnosis delay: Symptoms were not considered serious in 27% of patients. Alternative therapy (therapy not associated with cancer was applied in 13.0% of the patients. Fear and shame prevented the visit to the doctor in 10% and 4.5% of patients, respectively. Inappropriate reassurance that the lump was benign was an important reason for prolongation of the diagnosis time. Diagnosis delay was associated with initial breast symptom(s that did not include a lump (p  Diagnosis delay was associated with bigger tumour size (p Conclusions Diagnosis delay is very serious problem in Libya. Diagnosis delay was associated with complex interactions between several factors and with advanced stages. There is a need for improving breast cancer awareness and training of general practitioners to reduce breast cancer mortality by promoting early detection. The treatment guidelines should pay more attention to the early phases of breast cancer. Especially, guidelines for good practices in managing

  2. Qualitative methodology in developmental psychology

    DEFF Research Database (Denmark)

    Demuth, Carolin; Mey, Günter

    2015-01-01

    Qualitative methodology presently is gaining increasing recognition in developmental psychology. Although the founders of developmental psychology to a large extent already used qualitative procedures, the field was long dominated by a (post) positivistic quantitative paradigm. The increasing...

  3. Speech and Language Developmental Milestones

    Science.gov (United States)

    ... Health Info » Voice, Speech, and Language Speech and Language Developmental Milestones On this page: How do speech ... and language developmental milestones? How do speech and language develop? The first 3 years of life, when ...

  4. Developmental Milestones of Early Literacy

    Science.gov (United States)

    ... Size Email Print Share Developmental Milestones of Early Literacy Page Content ​In the spirit of making both ... at the well-defined developmental milestones of early literacy. Younger Than 6 Months: Never Too Young Unlike ...

  5. Developmentalism: An Obscure but Pervasive Restriction

    Directory of Open Access Journals (Sweden)

    J. E. Stone

    1996-04-01

    Full Text Available Despite continuing criticism of public education, experimentally demonstrated and field tested teaching methods have been ignored, rejected, and abandoned. Instead of a stable consensus regarding best teaching practices, there seems only an unending succession of innovations. A longstanding educational doctrine appears to underlie this anomalous state of affairs. Termed developmentalism, it presumes "natural" ontogenesis to be optimal and it requires experimentally demonstrated teaching practices to overcome a presumption that they interfere with an optimal developmental trajectory. It also discourages teachers and parents from asserting themselves with children. Instead of effective interventions, it seeks the preservation of a postulated natural perfection. Developmentalism's rich history is expressed in a literature extending over 400 years. Its notable exponents include Jean Jacques Rousseau, John Dewey, and Jean Piaget; and its most recent expressions include "developmentally appropriate practice" and "constructivism." In the years during which it gained ascendance, developmentalism served as a basis for rejecting harsh and inhumane teaching methods. Today it impedes efforts to hold schools accountable for student academic achievement.

  6. Language development, delay and intervention-the views of parents from communities that speech and language therapy managers in England consider to be under-served.

    Science.gov (United States)

    Marshall, Julie; Harding, Sam; Roulstone, Sue

    2017-07-01

    Evidence-based practice includes research evidence, clinical expertise and stakeholder perspectives. Stakeholder perspectives are important and include parental ethno-theories, which embrace views about many aspects of speech, language and communication, language development, and interventions. The Developmental Niche Framework provides a useful theory to understand parental beliefs. Ethnotheories, including those about language development, delay and interventions, may vary cross culturally and are less well understood in relation to families who may be considered 'under-served' or 'hard-to-reach' by speech and language therapy services. Who is considered to be under-served and the reasons why some families are under-served are complex. To describe beliefs and reported practices, in relation to speech and language development, delay and intervention, of parents and carers from a small number of groups in England who were perceived to be under-served in relation to SLT services. As part of a wider National Institute for Health Research (NIHR)-funded study (Child Talk), seven focus groups (with a total of 52 participants) were held with parents from three communities in England. Topics addressed included beliefs about language development, language delay and parents' reported responses to language delay. Data were transcribed and analysed using adapted framework analysis, which also drew on directed content analysis. Four themes resulted that broadly matched the topics addressed in the focus groups: language development and the environment; causes and signs of speech and language delay; responses to concerns about speech, language and communication; and improving SLT. These produced some previously unreported ideas, e.g., about how language develops and the causes of delay. The findings are discussed in relation to previous literature and the Developmental Niche Framework. Clinical implications include ideas about issues for SLTs to discuss with families and the

  7. Spelling impairments in Italian dyslexic children with and without a history of early language delay. Are there any differences?

    OpenAIRE

    Paola eAngelelli; Chiara Valeria eMarinelli; Marika eIaia; Anna ePutzolu; Filippo eGasperini; Filippo eGasperini; Daniela eBrizzolara; Daniela eBrizzolara; ANNA MARIA CHILOSI; ANNA MARIA CHILOSI

    2016-01-01

    Language delay is considered a frequent antecedent of literacy problems and both may be linked to phonological impairment. However, while several studies have examined the relationship between language delay and reading impairment, relatively few have focused on spelling.In this study, spelling performance of 28 children with developmental dyslexia (DD), 14 children with a history of language delay (LD) and 14 children without (NoLD) and 28 control participants were examined.Spelling was inve...

  8. Spelling Impairments in Italian Dyslexic Children with and without a History of Early Language Delay. Are There Any Differences?

    OpenAIRE

    Angelelli, Paola; Marinelli, Chiara V.; Iaia, Marika; Putzolu, Anna; Gasperini, Filippo; Brizzolara, Daniela; Chilosi, Anna M.

    2016-01-01

    Language delay is considered a frequent antecedent of literacy problems and both may be linked to phonological impairment. However, while several studies have examined the relationship between language delay and reading impairment, relatively few have focused on spelling. In this study, spelling performance of 28 children with developmental dyslexia (DD), 14 children with a history of language delay (LD), and 14 children without (NoLD) and 28 control participants were examined. Spelling was i...

  9. Speech and language delay in children: A review and the role of a pediatric dentist

    Directory of Open Access Journals (Sweden)

    P Shetty

    2012-01-01

    Full Text Available Speech and language development is a useful indicator of a child′s overall development and cognitive ability. Identification of children at a risk for developmental delay or related problems may lead to intervention and assistance at a young age, when the chances for improvement are the best. This rationale supports screening of preschool children for speech and language delay or primary language impairment or disorder, which needs to be integrated into routine developmental surveillance practices of clinicians caring for children.

  10. Individual Meaning and Increasing Complexity: Contributions of Sigmund Freud and Rene Spitz to Developmental Psychology.

    Science.gov (United States)

    Emde, Robert N.

    1992-01-01

    Considers contributions of Sigmund Freud and Rene Spitz to developmental psychology. Freud's contributions include his observations about play, perspectives on developmental processes, and ideas about unconscious mental activity. Spitz's contributions include his assessments of infants, perspectives on developmental processes, and his concept of…

  11. Integrating nature and nurture : Implications of person-environment correlations and interactions for developmental psychopathology

    NARCIS (Netherlands)

    Rutter, M; Dunn, J; Plomin, R; Simonoff, E; Pickles, A; Maughan, B; Ormel, J; Meyer, J; Eaves, L

    1997-01-01

    The developmental interplay between nature and nurture is discussed, with particular reference to implications for research in developmental psychopathology. The general principles include individual differences in reactivity to the environment, two-way interplay between intraindividual biology and

  12. Delayed Macular Hole Closure

    Directory of Open Access Journals (Sweden)

    Peter Distelmaier

    2014-04-01

    Full Text Available Purpose: The presented case raises questions regarding the favorable scheduling of planned postoperative care and the ideal observation interval to decide for reoperations in macular hole surgery. Furthermore a discussion about the use of short- and long-acting gas tamponades in macular hole surgery is encouraged. Methods: We present an interventional case report and a short review of the pertinent literature. Results: We report a case of spontaneous delayed macular hole closure after vitreoretinal surgery had been performed initially without the expected success. A 73-year-old male Caucasian patient presented at our clinic with a stage 2 macular hole in his left eye. He underwent 23-gauge pars plana vitrectomy and internal limiting membrane peeling with a 20% C2F6-gas tamponade. Sixteen days after the procedure, an OCT scan revealed a persistent stage 2 macular hole, and the patient was scheduled for reoperation. Surprisingly, at the date of planned surgery, which was another 11 days later, the macular hole had resolved spontaneously without any further intervention. Conclusions: So far no common opinion exists regarding the use of short- or long-acting gas in macular hole surgery. Our case of delayed macular hole closure after complete resorption of the gas tamponade raises questions about the need and duration of strict prone positioning after surgery. Furthermore short-acting gas might be as efficient as long-acting gas. We suggest to wait with a second intervention at least 4 weeks after the initial surgery, since a delayed macular hole closure is possible.

  13. A developmental perspective on neuroeconomic mechanisms of contingency management.

    Science.gov (United States)

    Stanger, Catherine; Budney, Alan J; Bickel, Warren K

    2013-06-01

    This paper provides a developmental overview of relevant theory and research on delay discounting and neuroeconomics, and their implications for contingency management (CM) approaches to treatment. Recent advances in the neuroscience of decision making have the potential to inform treatment development for adolescent substance use in general, and CM treatments in particular. CM interventions may be informed by research on delay discounting, a type of decision making that reflects how individuals value immediate versus delayed rewards. Delay discounting reliably distinguishes substance abusers from nonabusers and is a significant predictor of individual differences in response to substance use treatments. Discounting may also be important in predicting response to CM, as CM attempts to directly influence this decision-making process, shifting the preference from the immediate rewards of use to delayed rewards for choosing not to use. Multiple neural processes underlie decision making, and those processes have implications for adolescent substance abuse. There are significant neurodevelopmental processes that differentiate adolescents from adults. These processes are implicated in delay discounting, suggesting that adolescence may reflect a period of plasticity in temporal decision making. Understanding the neural mechanisms of delay discounting has led to promising working memory interventions directly targeting the executive functions that underlie individual choices. These interventions may be particularly helpful in combination with CM interventions that offer immediate rewards for brief periods of abstinence, and may show particular benefit in adolescence due to the heightened neural plasticity of systems that underlie temporal discounting in adolescence. 2013 APA, all rights reserved

  14. Organophosphate induced delayed polyneuropathy.

    Science.gov (United States)

    Qureshi, Asif; Ali, Rajab; Yaqoob, M Yousuf; Saleem, Omema

    2007-07-01

    Organophosphate induced delayed polyneuropathy (OPIDP) is a rare sensory-motor distal axonopathy, which usually occur after ingestion of large doses of certain organophosphate insecticide. The clinical picture is characterized by the distal paresis in lower limb associated with sensory symptoms. Electrodiagnostic studies show a motor axonal neuropathy. This case occurred in a 14 years old girl who developed cramping pain in both calves associated with lower limbs paresis 6 weeks after accidental organophosphate poisoning. After another week, she also developed weakness in both hands. Electrophysiological study was characterized by an axonal polyneuropathy pattern. Patient improved upon oral multivitamin therapy and physiotherapy.

  15. Delayed breast implant reconstruction

    DEFF Research Database (Denmark)

    Hvilsom, Gitte B.; Hölmich, Lisbet R.; Steding-Jessen, Marianne

    2012-01-01

    We evaluated the association between radiation therapy and severe capsular contracture or reoperation after 717 delayed breast implant reconstruction procedures (288 1- and 429 2-stage procedures) identified in the prospective database of the Danish Registry for Plastic Surgery of the Breast during...... of radiation therapy was associated with a non-significantly increased risk of reoperation after both 1-stage (HR = 1.4; 95% CI: 0.7-2.5) and 2-stage (HR = 1.6; 95% CI: 0.9-3.1) procedures. Reconstruction failure was highest (13.2%) in the 2-stage procedures with a history of radiation therapy. Breast...

  16. Concurrent Delay in Construction Disputes

    DEFF Research Database (Denmark)

    Cavaleri, Sylvie Cécile

    period of delay can potentially be attributed to several events falling within both parties' spheres of responsibility, commonly termed concurrent delay, is rarely regulated in construction contracts in spite of its common occurrence. This book analyses both the theoretical foundations and the practical......Delay is one of the issues most frequently encountered in today’s construction industry; it causes significant economic damage to all parties involved. Construction contracts, standard and bespoke, almost invariably consider delay from a perspective of single liability. If the event causing...... solutions to the issue of concurrent delay in a comparative perspective between common and civil law systems, with an emphasis on Danish and English law....

  17. Patient delay in cancer studies

    DEFF Research Database (Denmark)

    Andersen, Rikke Sand; Vedsted, Peter; Olesen, Frede

    2009-01-01

    BACKGROUND: There is no validated way of measuring the prevalence and duration of patient delay, and we do not know how people perceive and define the time intervals they are asked to report in patient delay studies. This lack of a validated measure hampers research in patient delay...... as symptoms related to a specific cancer diagnosis is embedded within a social and cultural context. We therefore cannot assume that respondents define delay periods in identical ways. SUMMARY: In order to improve the validity of patient delay studies, it is suggested that research be strengthened on three...

  18. A Developmental Model Applied to Problems of Deafness.

    Science.gov (United States)

    Schlesinger, Hilde S.

    2000-01-01

    This "classic" article (1972) in the field of deaf studies includes some interpretive notes for current readers. The article examines the effect of deafness on basic developmental tasks at each of the eight developmental stages of Erik Erikson's theory of psychosocial development and explains the more successful passage through these…

  19. Guide to Federal Resources for the Developmentally Disabled.

    Science.gov (United States)

    Russem, Wendy, Ed.; And Others

    The guide presents information on available federal resources to improve services for developmentally disabled persons. An introductory chapter provides an overview of the creation and evolution of the Developmental Disabilities Program. Chapter two focuses on federal funding and appropriations, including methods of awarding grants and contracts.…

  20. Cross delay line sensor characterization

    Energy Technology Data Exchange (ETDEWEB)

    Owens, Israel J [Los Alamos National Laboratory; Remelius, Dennis K [Los Alamos National Laboratory; Tiee, Joe J [Los Alamos National Laboratory; Buck, Steven E [Los Alamos National Laboratory; Whittemore, Stephen R [Los Alamos National Laboratory; Thompson, David C [Los Alamos National Laboratory; Shirey, Robert [Los Alamos National Laboratory

    2010-01-01

    There exists a wealth of information in the scientific literature on the physical properties and device characterization procedures for complementary metal oxide semiconductor (CMOS), charge coupled device (CCD) and avalanche photodiode (APD) format detectors. Numerous papers and books have also treated photocathode operation in the context of photomultiplier tube (PMT) operation for either non imaging applications or limited night vision capability. However, much less information has been reported in the literature about the characterization procedures and properties of photocathode detectors with novel cross delay line (XDL) anode structures. These allow one to detect single photons and create images by recording space and time coordinate (X, Y & T) information. In this paper, we report on the physical characteristics and performance of a cross delay line anode sensor with an enhanced near infrared wavelength response photocathode and high dynamic range micro channel plate (MCP) gain (> 10{sup 6}) multiplier stage. Measurement procedures and results including the device dark event rate (DER), pulse height distribution, quantum and electronic device efficiency (QE & DQE) and spatial resolution per effective pixel region in a 25 mm sensor array are presented. The overall knowledge and information obtained from XDL sensor characterization allow us to optimize device performance and assess capability. These device performance properties and capabilities make XDL detectors ideal for remote sensing field applications that require single photon detection, imaging, sub nano-second timing response, high spatial resolution (10's of microns) and large effective image format.

  1. Delayed auditory feedback and aphasia.

    Science.gov (United States)

    Boller, F; Vrtunski, P B; Kim, Y; Mack, J L

    1978-06-01

    The effect of Delayed Auditory Feedback (DAF) was evaluated in three groups of subjects: 10 normal controls, 10 non-fluent aphasics, and 10 fluent aphasics. Speec production tasks consisted of (1) repeating sound and words; (2) naming objects; (3) producing sentences from given stimulus words; (4) answering questions; (5) reciting nursery rhymes; and (6) reading. Two delays were used, 180 and 360 msec. Two independent judges rated patients' responses for changes in intensity, duration, and quality of speech. Inter-judge reliability was considered satisfactory. Contrary to some previous reports, all subjects, including all the fluent aphasics, showed some DAF effect. Fluent aphasics, however, showed a significantly smaller DAF effect than non-fluent aphasics. Patient with conduction aphasia appeared to be the least impaired. Overall DAF effect was greater with 180 msec. than with 360 msec. The largest DAF effect occurred during answering question, followed by repeating, reading, nursery rhymes, sentence production, and naming, in that order. Repetition of a complex word produced a greater DAF effect than repetition of a simple sound. Finally, we found a differential effect of DAF on the three measures used in the study. We hypothesize that DAF effects result from changes in two separate monitoring systems. One systems is related to changes in the intensity of speech and does not appear to be affected by aphasia. The other is responsible for duration and qualitative changes in speech and is differentially affected in relation to pathology producing aphasia.

  2. Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: Identification of a gene near FRAXE

    Energy Technology Data Exchange (ETDEWEB)

    Gedeon, A.K.; Sutherland, G.R. [Women`s and Children`s Hospital, North Adelaide (Australia)]|[Univ. of Adelaide (Australia); Ades, L.C.; Gecz, J.; Baker, E.; Mulley, J.C. [Women`s and Children`s Hospital, North Adelaide (Australia); Keinaenen, M. [Clinical Laboratory Medix, Espoo (Finland); Kaeaeriaeinen, H. [Univ. of Helsinki (Finland)

    1995-04-01

    Two unrelated boys are described with delay in development and submicroscopic deletions in Xq28, near FRAXE. Molecular diagnosis to exclude the fragile X (FRAXA) syndrome used the direct probe pfxa3, together with a control probe pS8 (DXS296), against PstI restriction digests of DNA. Deletions were detected initially by the control probe pS8, which is an anonymous fragment subcloned from YAC 539, within 1 Mb distal to FRAXA. Further molecular analyses determined that the maximum size of the deletion is <100 kb in one boy (MK) and is wholly overlapped by the deletion of up to {approximately}200 kb in the other (CB). These deletions lie between the sequences detected by the probe VK21C (DXS296) and a dinucleotide repeat VK18AC (DXS295). The patient MK had only speech delay with otherwise normal development, while patient CB had global developmental delay that included speech delay. Detection of overlapping deletions in these two cases led to speculation that coding sequences of a gene(s) important in language development may be affected. Hybridization of the pS8 and VK21A probes to zooblots revealed cross-species homology. This conservation during evolution suggested that this region contains sequences with functional significance in normal development. The VK21A probe detected a 9.5-kb transcript in placenta and brain and a smaller, 2.5-kb, transcript in other tissues analyzed. 26 refs., 6 figs.

  3. [Diagnosis delay of pleural and pulmonary tuberculosis].

    Science.gov (United States)

    Cherif, J; Mjid, M; Ladhar, A; Toujani, S; Mokadem, S; Louzir, B; Mehiri, N; Béji, M

    2014-08-01

    Tuberculosis (TB) is still being endemic in our country. Time until management determines both evolution and prognosis of this condition. The aim of this work is to evaluate the delay in diagnosis of TB in a respiratory unit from a university hospital series. The authors conducted a cross-sectional study including patients with pulmonary TBC and/or pleural. An evaluation of time management was conducted from the beginning of symptoms and various consultations with reference to the date of hospitalization and treatment set up. One hundred patients were included (pulmonary TB: 68 cases, pleural TB 23 cases, miliary pulmonary TB: 4 cases, pulmonary TB associated with other extrathoracic locations: 5 cases). The mean time of patient delay and total delay institution were respectively 43.6, 25.7 and 69.3 days. Variables responsible for long delays were: number of consultations more than 3 before hospitalization, empirical antibiotic therapy, of a regional hospital first consultation and the presence of extra-respiratory impairment. The patient delay was considered long. A reorganization of the TB control program, in particular by partial decentralization of care and health education is imperative in order to improve the quality of tuberculosis management in our country. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  4. Epidemiology of delayed ejaculation.

    Science.gov (United States)

    Di Sante, Stefania; Mollaioli, Daniele; Gravina, Giovanni Luca; Ciocca, Giacomo; Limoncin, Erika; Carosa, Eleonora; Lenzi, Andrea; Jannini, Emmanuele A

    2016-08-01

    A large body of literature on diminished ejaculatory disorders has been generated without the use of a clear diagnostic definition. Many studies have not distinguished between the orgasm and ejaculation disorders leading to doubtful results. Delayed ejaculation (DE) is one of the diminished ejaculatory disorders, which range from varying delays in ejaculatory latency to a complete inability to ejaculate. The present review is aimed at providing a comprehensive overview of the current knowledge on the definition and epidemiology of diminished ejaculatory disorders. We focus on the acquired diseases, such as benign prostatic hyperplasia (BPH) and specific drug regimens that may cause an iatrogenic form of ejaculatory disorder. In addition, the impact of aging is discussed since the prevalence of DE appears to be moderately but positively related to age. Finally, we also focus on the importance of the hormonal milieu on male ejaculation. To date, evidence on the endocrine control of ejaculation is derived from small clinical trials, but the evidence suggests that hormones modulate the ejaculatory process by altering its overall latency.

  5. Developmental dilatation of Virchow-Robin spaces: a genetic disorder?

    Science.gov (United States)

    Bruna, Anne-Laure; Martins, Ilda; Husson, Beatrice; Landrieu, Pierre

    2009-10-01

    In childhood, widening of Virchow-Robin spaces is rarely secondary to specific progressive disorders, but more often appears in poorly characterized developmental conditions. From data collected in a neuropediatric department, we examined whether clinical data associated with "constitutional widening of Virchow-Robin spaces" allowed delineation of recognizable entities. Signs in 10 patients, mostly boys, suggested nonspecific cerebral dysfunctions, e.g., developmental delay, nonspecific epilepsy, headaches, or benign macrocephaly. Spaces were sometimes round, subsequently mimicking microcystic malacic lesions. In two patients, abnormal magnetic resonance imaging signals were evident in white matter contiguous to widened perivascular spaces, suggesting a broader disorder of fluid exchanges. Four cases occurred in two sibships. In two families, other patients exhibited early developmental difficulties. Long-term clinical and magnetic resonance imaging surveillance will clarify which cases of primary Virchow-Robin space dilatation imply a benign prognosis. Performance of magnetic resonance imaging on any relative exhibiting minor neuropsychologic handicaps would permit estimations of real genetic incidence.

  6. Developmental Trajectories of Early Communication Skills

    Science.gov (United States)

    Maatta, Sira; Laakso, Marja-Leena; Tolvanen, Asko; Ahonen, Timo; Aro, Tuija

    2012-01-01

    Purpose: This study focused on developmental trajectories of prelinguistic communication skills and their connections to later parent-reported language difficulties. Method: The participants represent a subset of a community-based sample of 508 children. Data include parent reports of prelinguistic communication skills at 12, 15, 18, and 21 months…

  7. Isolation and characterization of developmentally regulated novel ...

    African Journals Online (AJOL)

    USER

    region of the genome. These target sites control the developmental expression of genes. In the present paper we have ... communicating signals to the general transcription machinery that forms a preinitiation complex (PIC) at ..... (Jonassen et al., 1995, 1997) and derived fuzzy sequence patterns, which included at least five ...

  8. Developmental Light-Water Reactor Program

    International Nuclear Information System (INIS)

    Forsberg, C.W.

    1989-12-01

    This report summarizes the progress of the Developmental Light-Water Reactor (DLWR) Program at Oak Ridge National Laboratory in FY 1989. It also includes (1) a brief description of the program, (2) definition of goals, (3) earlier achievements, and (4) proposed future activities

  9. Replication and Robustness in Developmental Research

    Science.gov (United States)

    Duncan, Greg J.; Engel, Mimi; Claessens, Amy; Dowsett, Chantelle J.

    2014-01-01

    Replications and robustness checks are key elements of the scientific method and a staple in many disciplines. However, leading journals in developmental psychology rarely include explicit replications of prior research conducted by different investigators, and few require authors to establish in their articles or online appendices that their key…

  10. A reflection on African developmental predicament | Nweke ...

    African Journals Online (AJOL)

    Among several issues surrounding scholarly and political discussions about Africa is that of the continent‟s development. Despite the claims that it is the cradle of civilization, Africa, at the moment, remains a developing nation in the global developmental ranking. Efforts to lift Africa from the shackles have included, among ...

  11. The developmental trajectory of leaflet morphology in wild tomato species.

    Science.gov (United States)

    Chitwood, Daniel H; Headland, Lauren R; Kumar, Ravi; Peng, Jie; Maloof, Julin N; Sinha, Neelima R

    2012-03-01

    Leaves between species vary in their size, serration, complexity, and shape. However, phylogeny is not the only predictor of leaf morphology. The shape of a leaf is the result of intricate developmental processes, including heteroblastic progression (changes in leaf size and shape at different nodes) and the developmental stage of an organ. The leaflets that arise from complex leaves are additionally modified by their positioning along the proximal-distal axis of a leaf and whether they fall on the left or right side of leaves. Even further, leaves are environmentally responsive, and their final shape is influenced by environmental inputs. Here, we comprehensively describe differences in leaflet shape between wild tomato (Solanum section Lycopersicon) species using a principal component analysis on elliptical Fourier descriptors arising from >11,000 sampled leaflets. We leverage differences in developmental rate to approximate a developmental series, which allows us to resolve the confounding differences in intrinsic leaflet form and developmental stage along positions of the heteroblastic leaf series and proximal-distal axis of leaves. We find that the resulting developmental trajectory of organs at different positions along these axes are useful for describing the changes in leaflet shape that occur during the shade avoidance response in tomato. We argue that it is the developmental trajectory, the changes in shape that occur over developmental time in organs reiterated at multiple positions, that is the relevant phenotype for discerning differences between populations and species, and to understand the underlying developmental processes that change during evolution.

  12. Emotional, behavioral, and developmental features indicative of neglect or emotional abuse in preschool children: a systematic review.

    Science.gov (United States)

    Naughton, Aideen Mary; Maguire, Sabine Ann; Mann, Mala Kanthi; Lumb, Rebecca Caroline; Tempest, Vanessa; Gracias, Shirley; Kemp, Alison Mary

    2013-08-01

    Early intervention for neglect or emotional abuse in preschoolers may mitigate lifelong consequences, yet practitioners lack confidence in recognizing these children. To define the emotional, behavioral, and developmental features of neglect or emotional abuse in preschoolers. A literature search of 18 databases, 6 websites, and supplementary searching performed from January 1, 1960, to February 1, 2011, identified 22 669 abstracts. Standardized critical appraisal of 164 articles was conducted by 2 independent, trained reviewers. Inclusion criteria were children aged 0 to 6 years with confirmed neglect or emotional abuse who had emotional, behavioral, and developmental features recorded or for whom the carer-child interaction was documented. Twenty-eight case-control (matched for socioeconomic, educational level, and ethnicity), 1 cross-sectional, and 13 cohort studies were included. Key features in the child included the following: aggression (11 studies) exhibited as angry, disruptive behavior, conduct problems, oppositional behavior, and low ego control; withdrawal or passivity (12 studies), including negative self-esteem, anxious or avoidant behavior, poor emotional knowledge, and difficulties in interpreting emotional expressions in others; developmental delay (17 studies), particularly delayed language, cognitive function, and overall development quotient; poor peer interaction (5 studies), showing poor social interactions, unlikely to act to relieve distress in others; and transition (6 studies) from ambivalent to avoidant insecure attachment pattern and from passive to increasingly aggressive behavior and negative self-representation. Emotional knowledge, cognitive function, and language deteriorate without intervention. Poor sensitivity, hostility, criticism, or disinterest characterize maternal-child interactions. Preschool children who have been neglected or emotionally abused exhibit a range of serious emotional and behavioral difficulties and adverse

  13. Workers' compensation in Pennsylvania: the effects of delayed contested cases.

    Science.gov (United States)

    Dawson, S E

    1994-01-01

    This study examines the effects of delayed workers' compensation cases in the Pennsylvania system. Forty-five claimants of a workers' compensation support group responded to interviews. Delay periods averaged two years with a 68.4% drop in income. Results indicate that claimants endured financial and emotional stress, exhausted personal assets, relied on assistance from relatives, and received public assistance. Implications for social work practice include educating workers about benefits, counseling claimants with delayed claims, and advocating for administrative reforms.

  14. Time delay systems theory, numerics, applications, and experiments

    CERN Document Server

    Ersal, Tulga; Orosz, Gábor

    2017-01-01

    This volume collects contributions related to selected presentations from the 12th IFAC Workshop on Time Delay Systems, Ann Arbor, June 28-30, 2015. The included papers present novel techniques and new results of delayed dynamical systems. The topical spectrum covers control theory, numerical analysis, engineering and biological applications as well as experiments and case studies. The target audience primarily comprises research experts in the field of time delay systems, but the book may also be beneficial for graduate students alike. .

  15. Time for considering constraints on procedural memory consolidation processes: Comment on Pan and Rickard (2015) with specific reference to developmental changes.

    Science.gov (United States)

    Adi-Japha, Esther; Karni, Avi

    2016-05-01

    In the acquisition of some motor skills, sleep may be necessary for the completion of procedural memory consolidation processes, as expressed in delayed "offline" performance gains. Pan and Rickard (2015) conducted an original meta-analysis of the literature on performing an explicitly instructed finger movement sequence and tested the role of sleep versus wake in the enhancement of performance over posttraining delay periods. In this comment we propose that a more-biological, process-oriented framework is needed, allowing for more than a yes-no answer to the question addressed, and suggest methodological issues that may affect the target meta-analysis. We argue that different task demands, task conditions, and developmental differences should be considered a priori rather than expected to emerge from pooled data. For example, several recent studies have indicated that there is a qualitative change in the time course of procedural memory consolidation processes at puberty, between the ages of 12 and 17. Before puberty, consolidation processes are reflected in enhancement of task performance over sleep and wake periods alike. In their extensive set of relevant empirical data the authors included a number of developmental studies comparing children with adults (expecting "child status" effects) but did not fully consider developmental changes. We show that the inclusion of the 6 studies of childhood, comprising 13 groups, biases the meta-analysis toward the conclusion that skill enhancement is similar across wake and sleep periods. (PsycINFO Database Record (c) 2016 APA, all rights reserved).

  16. Child obesity and motor development delays

    Science.gov (United States)

    Childhood obesity has been associated with delays in motor development using weight-for-length z-scores and subcutaneous fat. To study this further, percent body fat and motor development were assessed in children ages 3 to 24 months. Included were 455 children with a total of 1882 longitudinal obse...

  17. Delayed cure bismaleimide resins

    Science.gov (United States)

    Adams, Johnnie E.; Jamieson, Donald R.

    1984-08-07

    Polybismaleimides prepared by delayed curing of bis-imides having the formula ##STR1## wherein R.sub.1 and R.sub.2 each independently is H, C.sub.1-4 -alkyl, C.sub.1-4 -alkoxy, Cl or Br, or R.sub.1 and R.sub.2 together form a fused 6-membered hydrocarbon aromatic ring, with the proviso that R.sub.1 and R.sub.2 are not t-butyl or t-butoxy; X is O, S or Se; n is 1-3; and the --(CH.sub.2).sub.n -- group, optionally, is substituted by 1-3 methyl groups or by fluorine.

  18. A distributed delay approach for modeling delayed outcomes in pharmacokinetics and pharmacodynamics studies.

    Science.gov (United States)

    Hu, Shuhua; Dunlavey, Michael; Guzy, Serge; Teuscher, Nathan

    2018-04-01

    A distributed delay approach was proposed in this paper to model delayed outcomes in pharmacokinetics and pharmacodynamics studies. This approach was shown to be general enough to incorporate a wide array of pharmacokinetic and pharmacodynamic models as special cases including transit compartment models, effect compartment models, typical absorption models (either zero-order or first-order absorption), and a number of atypical (or irregular) absorption models (e.g., parallel first-order, mixed first-order and zero-order, inverse Gaussian, and Weibull absorption models). Real-life examples were given to demonstrate how to implement distributed delays in Phoenix ® NLME™ 8.0, and to numerically show the advantages of the distributed delay approach over the traditional methods.

  19. Television viewing associates with delayed language development.

    Science.gov (United States)

    Chonchaiya, Weerasak; Pruksananonda, Chandhita

    2008-07-01

    To identify impact of television viewing on language development. The case-control study included 56 new patients with language delay and 110 normal children, aged 15-48 months. Language delay was diagnosed by reviewing language milestones and Denver-II. Television viewing variables and child/parental characteristics between both groups were interviewed. The data were analyzed by ANOVA and chi-square test. Adjusted odds ratios and 95% confidence intervals were calculated from multivariate logistic regression model. Forty-six boys and 10 girls; mean [+/-SD] age, 2.11+/-0.47 years of the case group and 59 boys and 51 girls; mean [+/-SD] age, 2.23+/-0.80 years of the control group were enrolled. Children who had language delay usually started watching television earlier at age 7.22+/-5.52 months vs. 11.92+/-5.86 months, p-valuetelevision than normal children (3.05+/-1.90 h/day vs. 1.85+/-1.18 h/day; p-valuetelevision attelevision>2 h/day were approximately six times more likely to have language delays. There is a relationship between early onset and high frequency of TV viewing and language delay.

  20. Delayed Reduction of Nasal Bone Fractures.

    Science.gov (United States)

    Yoon, Han Young; Han, Dong Gil

    2016-06-01

    Nasal bone fractures are managed by closed reduction within the 2-week period, and are managed by secondary correction after this time. There is little literature on the delayed reduction for nasal bone fractures beyond the 2-week duration. We report our experience with nasal fractures, which were reduced beyond this period. A retrospective review was performed for all patients who had undergone closed reduction of isolated nasal bone fracture. Patients were included for having undergone reduction of nasal bone fractures at or more than 2 weeks after the injury. Medical records were reviewed for demographic information, injury mechanism, fracture type, delay in treatment, and cause for delay. Postoperative outcomes were evaluated using computed tomography images. The review identified 10 patients. The average reduction time was 22.1 days. Five of patients underwent reduction between days 15 and 20, and the remaining five patients underwent reduction between days 21 and 41. The postoperative outcomes were excellent in 8 patients and good in 2 patients. Outcomes were superior for nasal fractures with displaced end plates and multiple fracture segments. Our study results appears to support delayed reduction of isolated nasal fractures in the presence of factors that delay bony reunion.

  1. Abdominal CT findings of delayed postoperative complications

    Energy Technology Data Exchange (ETDEWEB)

    Zissin, R.; Osadchy, A. [Sapir Medical Center, Dept. of Diagnostic Imaging, Kfar Saba (Israel)]. E-mail: zisinrivka@clalit.org.il; Gayer, G. [Assaf Harofe Medical Center, Dept. of Diagnostic Imaging, Zrifin (Israel)

    2007-10-15

    Despite progress in surgical techniques and modern medical treatment, postoperative complications occur not infrequently and vary according to type of surgery, clinical setting, and time elapsed since surgery. In general, they can be divided into early and delayed complications. Delayed postoperative complications can be classified as specific and nonspecific. The common nonspecific delayed complications are incisional hernia and postoperative bowel obstruction. Bowel obstruction can be further categorized as obstruction related to benign or neoplastic etiology, the latter occurring in oncology patients in whom the primary surgery was related to an underlying abdominal neoplasm. Gossypiboma is another, fortunately rare, postoperative complication. Specific complications appear after specific operations and include the following: Splenosis - following splenectomy. Retained gallstones and spilled gallstones - following cholecystectomy, mainly laparoscopic. Dropped appendicolith and stump appendicitis - following appendectomy, mainly laparoscopic. Obturation obstruction by a bezoar - following gastric surgery. Afferent loop syndrome (ALS) - following Bilroth II gastrectomy. (author)

  2. Standard bone healing stages occur during delayed bone healing, albeit with a different temporal onset and spatial distribution of callus tissues.

    Science.gov (United States)

    Peters, Anja; Schell, Hanna; Bail, Hermann J; Hannemann, Marion; Schumann, Tanja; Duda, Georg N; Lienau, Jasmin

    2010-09-01

    Bone healing is considered as a recapitulation of a developmental program initiated at the time of injury. This study tested the hypothesis that in delayed bone healing the regular cascade of healing events, including remodeling of woven to lamellar bone, would be similar compared to standard healing, although the temporal onset would be delayed. A tibial osteotomy was performed in sheep and stabilized with a rotationally unstable fixator leading to delayed healing. The sheep were sacrificed at 2, 3, 6, 9 weeks and 6 months postoperatively. The temporal and spatial tissue distributions in the calluses and the bone microstructure were examined by histology. Although histological analysis demonstrated temporal and spatial callus tissue distribution differences, delayed healing exhibited the same characteristic stages as those seen during uneventful standard healing. The delayed healing process was characterized by a prolonged presence of hematoma, a different spatial distribution of new bone and delayed and prolonged endochondral bone formation. A change in the spatial distribution of callus formation was seen by week 6 leading to bone formation and resorption of the cortical bone fragments, dependent on the degree to which the cortical bone fragments were dislocated. At 6 months, only 5 out of 8 animals showed complete bony bridging with a continuous periosteum, although lamellar bone and newly formed woven bone were present in the other 3 animals. This study demonstrates that during delayed bone healing all stages of the healing cascade likely take place, even if bony consolidation does not occur. Furthermore, the healing outcome might be related to the periosteum's regenerative capacity leading to bony union or absence of bony bridging.

  3. Location Estimation using Delayed Measurements

    DEFF Research Database (Denmark)

    Bak, Martin; Larsen, Thomas Dall; Nørgård, Peter Magnus

    1998-01-01

    When combining data from various sensors it is vital to acknowledge possible measurement delays. Furthermore, the sensor fusion algorithm, often a Kalman filter, should be modified in order to handle the delay. The paper examines different possibilities for handling delays and applies a new techn...... technique to a sensor fusion system for estimating the location of an autonomous guided vehicle. The system fuses encoder and vision measurements in an extended Kalman filter. Results from experiments in a real environment are reported......When combining data from various sensors it is vital to acknowledge possible measurement delays. Furthermore, the sensor fusion algorithm, often a Kalman filter, should be modified in order to handle the delay. The paper examines different possibilities for handling delays and applies a new...

  4. Spiking Activity of a LIF Neuron in Distributed Delay Framework

    Directory of Open Access Journals (Sweden)

    Saket Kumar Choudhary

    2016-06-01

    Full Text Available Evolution of membrane potential and spiking activity for a single leaky integrate-and-fire (LIF neuron in distributed delay framework (DDF is investigated. DDF provides a mechanism to incorporate memory element in terms of delay (kernel function into a single neuron models. This investigation includes LIF neuron model with two different kinds of delay kernel functions, namely, gamma distributed delay kernel function and hypo-exponential distributed delay kernel function. Evolution of membrane potential for considered models is studied in terms of stationary state probability distribution (SPD. Stationary state probability distribution of membrane potential (SPDV for considered neuron models are found asymptotically similar which is Gaussian distributed. In order to investigate the effect of membrane potential delay, rate code scheme for neuronal information processing is applied. Firing rate and Fano-factor for considered neuron models are calculated and standard LIF model is used for comparative study. It is noticed that distributed delay increases the spiking activity of a neuron. Increase in spiking activity of neuron in DDF is larger for hypo-exponential distributed delay function than gamma distributed delay function. Moreover, in case of hypo-exponential delay function, a LIF neuron generates spikes with Fano-factor less than 1.

  5. A twin-case study of developmental number sense impairment.

    Science.gov (United States)

    Davidse, Neeltje J; de Jong, Maria T; Shaul, Shelley; Bus, Adriana G

    2014-01-01

    The current study reports on 9-year-old monozygotic twin girls who fail to make any progress in learning basic mathematics in primary education. We tested the hypothesis that the twins' core maths problems were deficits in number sense that manifested as impairments in approximate and small number systems, resulting in impairment in nonsymbolic as well as in symbolic processing. While age-matched controls (eight typically developing girls) scored highly, the twins scored at chance on all number sense tasks. More specifically, on a nonsymbolic comparison task, even in the simplest ratio condition of 1:2, and on a subitizing task including only numbers under 4, the twins performed at chance and significantly below the same age control group. Responsiveness to an intervention promoting number sense is discussed. As differences between verbal and performance IQ suggest, there seems to be a high degree of specificity in the twins' developmental number sense delays. The concomitant impairments for visual-spatial processing and working memory in the twins might explain the failure to develop number sense.

  6. Physical and Mental Health of Children with Developmental Coordination Disorder

    Directory of Open Access Journals (Sweden)

    Priscila Caçola

    2016-10-01

    Full Text Available Developmental Coordination Disorder (DCD is a neurodevelopmental condition characterized by poor motor proficiency that interferes with an individual’s activities of daily living. These problems in motor coordination are prevalent despite children’s intelligence levels. Common symptoms include marked delays in achieving motor milestones and clumsiness, typically associated with poor balance, coordination, and especially handwriting skills. Currently, DCD is said to impact about 2-7% of school-age children. More importantly, DCD is considered to be one of the major health problems among school-aged children worldwide, with unique consequences to physical and mental health. Because these children and adolescents often experience difficulties participating in typical childhood activities (e.g., riding a bike, they tend be more sedentary, more overweight/obese, at a higher risk for coronary vascular disease, and have lower cardiorespiratory and physical fitness than their typically developing peers. From another perspective, the motor difficulties have also been linked to an increased risk for mental health issues, such as higher anxiety and depression. The understanding of the health consequences associated with DCD offers practical applications for the understanding of the mechanisms and intervention protocols that can improve the consequences of this condition. In this review, I will explore such consequences and provide evidence for the implementation of interventions that focus on improving physical and mental health in this population.

  7. Complementary Feeding, Micronutrients and Developmental Outcomes of Children.

    Science.gov (United States)

    Gould, Jacqueline F

    2017-01-01

    The period of complementary feeding (6-24 months of age) can be a challenging and vulnerable time for infant nutrition due to disproportionately high requirements for metabolic processes, rapid developmental processes, and limited gastric capacity. This is a period of crucial brain development where high caloric intake is necessary to allow synaptogenesis (creation of channels between neurons for communication), and maintenance of established synapses, myelination (laying the myelin sheath around neuronal axons) and everyday psychological functioning. Key nutrients needed for infant brain development include iron (required for oxygen provision to metabolize energy), fatty acids (for cellular membranes and myelin) and protein (for structural support, such as in myelin). Deficiencies in key nutrients during the complementary feeding period have been consistently linked to child development outcomes. Observational studies have consistently demonstrated links between nutrient deficiencies and impairments in intellectual abilities, work capacity, behavioral functioning and even delayed mental and motor development. Yet results from a number of interventions using food, individual nutrients or multiple micronutrients with child development assessments are mixed, possibly partly due to differences in interventions (nutrients and timing), populations, baseline nutrient status, sample sizes, attrition and method of assessment. © 2017 Nestec Ltd., Vevey/S. Karger AG, Basel.

  8. Late-life effects on rat reproductive system after developmental exposure to mixtures of endocrine disrupters

    DEFF Research Database (Denmark)

    Isling, Louise Krag; Boberg, Julie; Jacobsen, Pernille Rosenskjold

    2014-01-01

    This study examined late-life effects of perinatal exposure of rats to a mixture of endocrine-disrupting contaminants. Four groups of 14 time-mated Wistar rats were exposed by gavage from gestation day 7 to pup day 22 to a mixture of 13 anti-androgenic and estrogenic chemicals including phthalates...... group. Developmental exposure of rats to the highest dose of a human-relevant mixture of endocrine disrupters induced adverse effects late in life, manifested as earlier female reproductive senescence, reduced sperm counts, higher score for prostate atypical hyperplasia, and higher incidence...... of pituitary tumors. These delayed effects highlight the need for further studies on the role of endocrine disrupters in hormone-related disorders in aging humans....

  9. Control systems with network delay

    OpenAIRE

    Şabanoviç, Asif; Sabanovic, Asif; Ohnishi, Kouhei; Yashiro, Daisuke; Acer, Merve; Ş.-Behliloviç, Nadira; S.-Behlilovic, Nadira

    2009-01-01

    In this paper motion control systems with delay in measurement and control channels are discussed and a new structure of the observer-predictor is proposed. The feature of the proposed system is enforcement of the convergence in both the estimation and the prediction of the plant output in the presence of the variable, unknown delay in both measurement and in the control channels. The estimation is based on the available data – undelayed control input, the delayed measurement of position o...

  10. Modeling delay in genetic networks: From delay birth-death processes to delay stochastic differential equations

    International Nuclear Information System (INIS)

    Gupta, Chinmaya; López, José Manuel; Azencott, Robert; Ott, William; Bennett, Matthew R.; Josić, Krešimir

    2014-01-01

    Delay is an important and ubiquitous aspect of many biochemical processes. For example, delay plays a central role in the dynamics of genetic regulatory networks as it stems from the sequential assembly of first mRNA and then protein. Genetic regulatory networks are therefore frequently modeled as stochastic birth-death processes with delay. Here, we examine the relationship between delay birth-death processes and their appropriate approximating delay chemical Langevin equations. We prove a quantitative bound on the error between the pathwise realizations of these two processes. Our results hold for both fixed delay and distributed delay. Simulations demonstrate that the delay chemical Langevin approximation is accurate even at moderate system sizes. It captures dynamical features such as the oscillatory behavior in negative feedback circuits, cross-correlations between nodes in a network, and spatial and temporal information in two commonly studied motifs of metastability in biochemical systems. Overall, these results provide a foundation for using delay stochastic differential equations to approximate the dynamics of birth-death processes with delay

  11. Modeling delay in genetic networks: from delay birth-death processes to delay stochastic differential equations.

    Science.gov (United States)

    Gupta, Chinmaya; López, José Manuel; Azencott, Robert; Bennett, Matthew R; Josić, Krešimir; Ott, William

    2014-05-28

    Delay is an important and ubiquitous aspect of many biochemical processes. For example, delay plays a central role in the dynamics of genetic regulatory networks as it stems from the sequential assembly of first mRNA and then protein. Genetic regulatory networks are therefore frequently modeled as stochastic birth-death processes with delay. Here, we examine the relationship between delay birth-death processes and their appropriate approximating delay chemical Langevin equations. We prove a quantitative bound on the error between the pathwise realizations of these two processes. Our results hold for both fixed delay and distributed delay. Simulations demonstrate that the delay chemical Langevin approximation is accurate even at moderate system sizes. It captures dynamical features such as the oscillatory behavior in negative feedback circuits, cross-correlations between nodes in a network, and spatial and temporal information in two commonly studied motifs of metastability in biochemical systems. Overall, these results provide a foundation for using delay stochastic differential equations to approximate the dynamics of birth-death processes with delay.

  12. Integrating diverse datasets improves developmental enhancer prediction.

    Directory of Open Access Journals (Sweden)

    Genevieve D Erwin

    2014-06-01

    Full Text Available Gene-regulatory enhancers have been identified using various approaches, including evolutionary conservation, regulatory protein binding, chromatin modifications, and DNA sequence motifs. To integrate these different approaches, we developed EnhancerFinder, a two-step method for distinguishing developmental enhancers from the genomic background and then predicting their tissue specificity. EnhancerFinder uses a multiple kernel learning approach to integrate DNA sequence motifs, evolutionary patterns, and diverse functional genomics datasets from a variety of cell types. In contrast with prediction approaches that define enhancers based on histone marks or p300 sites from a single cell line, we trained EnhancerFinder on hundreds of experimentally verified human developmental enhancers from the VISTA Enhancer Browser. We comprehensively evaluated EnhancerFinder using cross validation and found that our integrative method improves the identification of enhancers over approaches that consider a single type of data, such as sequence motifs, evolutionary conservation, or the binding of enhancer-associated proteins. We find that VISTA enhancers active in embryonic heart are easier to identify than enhancers active in several other embryonic tissues, likely due to their uniquely high GC content. We applied EnhancerFinder to the entire human genome and predicted 84,301 developmental enhancers and their tissue specificity. These predictions provide specific functional annotations for large amounts of human non-coding DNA, and are significantly enriched near genes with annotated roles in their predicted tissues and lead SNPs from genome-wide association studies. We demonstrate the utility of EnhancerFinder predictions through in vivo validation of novel embryonic gene regulatory enhancers from three developmental transcription factor loci. Our genome-wide developmental enhancer predictions are freely available as a UCSC Genome Browser track, which we hope

  13. PRECISION TIME-DELAY CIRCUIT

    Science.gov (United States)

    Creveling, R.

    1959-03-17

    A tine-delay circuit which produces a delay time in d. The circuit a capacitor, an te back resistance, connected serially with the anode of the diode going to ground. At the start of the time delay a negative stepfunction is applied to the series circuit and initiates a half-cycle transient oscillatory voltage terminated by a transient oscillatory voltage of substantially higher frequency. The output of the delay circuit is taken at the junction of the inductor and diode where a sudden voltage rise appears after the initiation of the higher frequency transient oscillations.

  14. Systematic of delayed neutron parameters

    International Nuclear Information System (INIS)

    Isaev, S.G.; Piksaikin, V.M.

    2000-01-01

    The experimental studies of the energy dependence of the delayed neutron (DN) parameters for various fission systems has shown that the behaviour of a some combination of delayed neutron parameters has a similar features. On the basis of this findings the systematics of delayed neutron experimental data for thorium, uranium, plutonium and americium isotopes have been investigated with the purpose to find a correlation of DN parameters with characteristics of fissioning system as well as a correlation between the delayed neutron parameters themselves. It was presented the preliminary results which were obtained during study the physics interpretation of the results [ru

  15. Ambulatory EEG NeuroMonitor platform for engagement studies of children with development delays

    Science.gov (United States)

    Mahajan, Ruhi; Consul-Pacareu, Sergi; Abusaud, Mohammed; Sahadat, Md N.; Morshed, Bashir I.

    2013-05-01

    Engagement monitoring is crucial in many clinical and therapy applications such as early learning preschool classes for children with developmental delays including autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD), or cerebral palsy; as it is challenging for the instructors to evaluate the individual responses of these children to determine the effectiveness of the teaching strategies due to the diverse and unique need of each child who might have difficulty in verbal or behavioral communication. This paper presents an ambulatory scalp electroencephalogram (EEG) NeuroMonitor platform to study brain engagement activities in natural settings. The developed platform is miniature (size: 2.2" x 0.8" x 0.36", weight: 41.8 gm with 800 mAh Li-ion battery and 3 snap leads) and low-power (active mode: 32 mA low power mode: under 5mA) with 2 channels (Fp1, Fp2) to record prefrontal cortex activities of the subject in natural settings while concealed within a headband. The signals from the electrodes are amplified with a low-power instrumentation amplifier; notch filtered (fc = 60Hz), then band-passed by a 2nd-order Chebyshev-I low-pass filter cascaded with a 2nd-order low-pass (fc = 125Hz). A PSoC ADC (16-bit, 256 sps) samples this filtered signal, and can either transmit it through a Class-2 Bluetooth transceiver to a remote station for real-time analysis or store it in a microSD card for offline processing. This platform is currently being evaluated to capture data in the classroom settings for engagement monitoring of children, aimed to study the effectiveness of various teaching strategies that will allow the development of personalized classroom curriculum for children with developmental delays.

  16. Transgenic mice in developmental toxicology

    Energy Technology Data Exchange (ETDEWEB)

    Woychik, R.P.

    1992-01-01

    Advances in molecular biology and embryology are being utilized for the generation of transgenic mice, animals that contain specific additions, deletions, or modifications of genes or sequences in their DNA. Mouse embryonic stem cells and homologous recombination procedures have made it possible to target specific DNA structural alterations to highly localized region in the host chromosomes. The majority of the DNA structural rearrangements in transgenic mice can be passed through the germ line and used to establish new genetic traits in the carrier animals. Since the use of transgenic mice is having such an enormous impact on so many areas of mammalian biological research, including developmental toxicology, the objective of this review is to briefly describe the fundamental methodologies for generating transgenic mice and to describe one particular application that has direct relevance to the field of genetic toxicology.

  17. Bringing a developmental perspective to anxiety genetics

    Science.gov (United States)

    MCGRATH, LAUREN M.; WEILL, SYDNEY; ROBINSON, ELISE B.; MACRAE, REBECCA; SMOLLER, JORDAN W.

    2013-01-01

    Despite substantial recent advancements in psychiatric genetic research, progress in identifying the genetic basis of anxiety disorders has been limited. We review the candidate gene and genome-wide literatures in anxiety, which have made limited progress to date. We discuss several reasons for this hindered progress, including small samples sizes, heterogeneity, complicated comorbidity profiles, and blurred lines between normative and pathological anxiety. To address many of these challenges, we suggest a developmental, multivariate framework that can inform and enhance anxiety phenotypes for genetic research. We review the psychiatric and genetic epidemiological evidence that supports such a framework, including the early onset and chronic course of anxiety disorders, shared genetic risk factors among disorders both within and across time, and developmentally dynamic genetic influences. We propose three strategies for developmentally sensitive phenotyping: examination of early temperamental risk factors, use of latent factors to model underlying anxiety liability, and use of developmental trajectories as phenotypes. Expanding the range of phenotypic approaches will be important for advancing studies of the genetic architecture of anxiety disorders. PMID:23062290

  18. Early and delayed indium 111 leukocyte imaging in Crohn's disease

    International Nuclear Information System (INIS)

    Navab, F.; Boyd, C.M.; Diner, W.C.; Subramani, R.; Chan, C.

    1987-01-01

    Twenty-seven patients with Crohn's disease were studied for the presence and location of activity by both early (4 h) and delayed (18-24 h) indium 111 leukocyte imaging. The results were compared with other parameters of disease activity including Crohn's disease activity index, barium studies, and endoscopy. There was a correlation between early images and Crohn's disease activity index (r = 0.78) and between delayed images and index (r = 0.82). Based upon the corresponding Crohn's disease activity index, the sensitivity of early and delayed imaging was 81.0% and 95.2%, respectively. Specificity of early and delayed imaging was 75.0% and 87.0%, respectively. Presence of activity on the early and delayed imaging agreed with activity on barium studies and colonoscopy in approximately 80% of cases. Correlation of location of disease by leukocyte imaging and x-ray was observed in 58.9% of early scans and 55.0% of delayed scans. Correlation of the location of disease by imaging and endoscopy was observed in 71.4% of early and 75.0% of delayed studies. Because of the possibility of occurrence of false-negative results in early images, delayed imaging should always be included in evaluation of disease activity in patients with Crohn's disease who are suspected of having mild activity. Delayed imaging is not required if the early imaging study clearly shows activity

  19. Phenotypic Dichotomy Following Developmental Exposure to Perfluorooctanic Acid (PFOA) Exposure in CD-1 Mice: Low Doses Induce Elevated Serum, Leptin, Insulin, and Overweight in Mid-Life.

    Science.gov (United States)

    The synthetic surfactant, perfluorooctanoic acid (PFOA) is a proven developmental toxicant in mice, causing prenatal pregnancy loss, increased neonatal mortality, delayed eye opening, and abnormal mammary gland growth in animals exposed during fetal life. PFOA is found in the ser...

  20. DEVELOPMENTAL TAXONOMY OF CONDUCT DISORDER

    OpenAIRE

    Jelena Kostić; Milkica Nešić; Jasminka Marković; Miodrag Stanković

    2015-01-01

    Conduct disorder is a heterogeneous disorder in terms of etiology, course and prognosis, and currently, there is no singular model that would describe the development of the disorder. The results of empirical research on males confirm this heterogeneity, as they point out to two possible developmental pathways: childhood-onset and adolescentonset type. This paper presents the basic elements of developmental taxonomic theory which argues that there are two different developmental pathways to c...

  1. Developmental coordination disorder - literature review

    OpenAIRE

    Kosová, Blanka

    2015-01-01

    Title: Developmental coordination disorder - literature review Objectives: The theoretical part talks about developmental coordination disorder, its diagnosis, investigations, etiology and division during the different ages of the child. The practical part compares the studies relating to atypical development of motor skills in children with developmental coordination disorder. In diploma thesis was often used shortcut CKP and DCD, depending on the source from which it was drawn. DCD is the E...

  2. Delay Discounting of Reward in ADHD: Application in Young Children

    Science.gov (United States)

    Wilson, Vanessa B.; Mitchell, Suzanne H.; Musser, Erica D.; Schmitt, Colleen F.; Nigg, Joel T.

    2011-01-01

    Background: A key underlying process that may contribute to attention-deficit/hyperactivity disorder (ADHD) involves alterations in reward evaluation, including assessing the relative value of immediate over delayed rewards. This study examines whether children with ADHD discount the value of delayed rewards to a greater degree than typically…

  3. Growth of meromorphic solutions of delay differential equations

    OpenAIRE

    Halburd, Rod; Korhonen, Risto

    2016-01-01

    Necessary conditions are obtained for certain types of rational delay differential equations to admit a non-rational meromorphic solution of hyper-order less than one. The equations obtained include delay Painlev\\'e equations and equations solved by elliptic functions.

  4. Can Early Years Professionals Determine Which Preschoolers Have Comprehension Delays? A Comparison of Two Screening Tools

    Science.gov (United States)

    Seager, Emily; Abbot-Smith, Kirsten

    2017-01-01

    Language comprehension delays in pre-schoolers are predictive of difficulties in a range of developmental domains. In England, early years practitioners are required to assess the language comprehension of 2-year-olds in their care. Many use a format based on the Early Years Foundation Stage Unique Child Communication Sheet (EYFS:UCCS) in which…

  5. Associations among Maternal Behavior, Delay of Gratification, and School Readiness across the Early Childhood Years

    Science.gov (United States)

    Razza, Rachel A.; Raymond, Kimberly

    2013-01-01

    This study examined the developmental pathways from maternal behavior to school readiness within a sample of 1007 children, with a specific focus on the mediating role of delay of gratification (DoG). Maternal behavior across the first 36 months of age was explored as a predictor of children's DoG at 54 months as well as their behavioral and…

  6. Pump apparatus including deconsolidator

    Energy Technology Data Exchange (ETDEWEB)

    Sonwane, Chandrashekhar; Saunders, Timothy; Fitzsimmons, Mark Andrew

    2014-10-07

    A pump apparatus includes a particulate pump that defines a passage that extends from an inlet to an outlet. A duct is in flow communication with the outlet. The duct includes a deconsolidator configured to fragment particle agglomerates received from the passage.

  7. Building a developmental toxicity ontology.

    Science.gov (United States)

    Baker, Nancy; Boobis, Alan; Burgoon, Lyle; Carney, Edward; Currie, Richard; Fritsche, Ellen; Knudsen, Thomas; Laffont, Madeleine; Piersma, Aldert H; Poole, Alan; Schneider, Steffen; Daston, George

    2018-04-03

    As more information is generated about modes of action for developmental toxicity and more data are generated using high-throughput and high-content technologies, it is becoming necessary to organize that information. This report discussed the need for a systematic representation of knowledge about developmental toxicity (i.e., an ontology) and proposes a method to build one based on knowledge of developmental biology and mode of action/ adverse outcome pathways in developmental toxicity. This report is the result of a consensus working group developing a plan to create an ontology for developmental toxicity that spans multiple levels of biological organization. This report provide a description of some of the challenges in building a developmental toxicity ontology and outlines a proposed methodology to meet those challenges. As the ontology is built on currently available web-based resources, a review of these resources is provided. Case studies on one of the most well-understood morphogens and developmental toxicants, retinoic acid, are presented as examples of how such an ontology might be developed. This report outlines an approach to construct a developmental toxicity ontology. Such an ontology will facilitate computer-based prediction of substances likely to induce human developmental toxicity. © 2018 Wiley Periodicals, Inc.

  8. Efeito da intervenção em esteira motorizada na aquisição da marcha independente e desenvolvimento motor em bebês de risco para atraso desenvolvimental Efecto de la intervención en caminadora automática en la adquisición de la marcha independiente y desarrollo motor en bebés de riesgo para retraso de desarrollo Treadmill training effects on walking acquisition and motor development in infants at risk of developmental delay

    Directory of Open Access Journals (Sweden)

    Diana Xavier C. Schlittler

    2011-03-01

    ática para el grupo experimental. Todos los bebés fueron evaluados mensualmente por la Alberta Infant Motor Scale y los del grupo experimental fueron filmados realizando los pasos en la caminadora. Comparaciones entre los grupos a lo largo del tiempo fueron realizadas utilizando análisis de variancia (ANOVA y de multivariancia (MANOVA. RESULTADOS: Los bebés del grupo experimental adquirieron la marcha independiente a los 12,8 y los del grupo control de riesgo a los 13,8 meses de edad corregida, siendo que la adquisición del grupo control de riesgo ocurrió más tarde que en el grupo control típico (1,1 meses; pOBJECTIVE: To examine the effect of motorized treadmill intervention on independent walking acquisition and other motor milestones in infants at risk of developmental delay. METHODS: Experimental study with 15 infants, observed since the 5th month of age: five infants at risk of developmental delay submitted to both physiotherapy sessions and intervention in motorized treadmill (Experimental Group; five infants at risk of developmental delay submitted to physiotherapy sessions only (Risk Control Group; and five infants without risks of developmental delay (Typical Control Group. Physiotherapy sessions occurred twice a week, followed by motorized treadmill intervention for the Experimental Group. Motorized treadmill intervention began when infants acquired cephalic control and was interrupted by independent walking or at 14 months post-conceptual age. All babies were monthly assessed with Alberta Infant Motor Scale and the Experimental Group was filmed during the exercise on the motorized treadmill. Comparisons among groups and months were performed using analysis of variance (ANOVA and multivariance (MANOVA. RESULTS: Experimental Group infants acquired independent walking at 12.8 months and the Risk Control Group infants at 13.8 months of corrected age, which was delayed compared to the Typical Control Group (1.1 months; p<0.05. Experimental Group of infants

  9. Developmental immunotoxicology of lead

    International Nuclear Information System (INIS)

    Dietert, Rodney R.; Lee, Ji-Eun; Hussain, Irshad; Piepenbrink, Michael

    2004-01-01

    The heavy metal, lead, is a known developmental immunotoxicant that has been shown to produce immune alterations in humans as well as other species. Unlike many compounds that exert adverse immune effects, lead exposure at low to moderate levels does not produce widespread loss of immune cells. In contrast, changes resulting from lead exposure are subtle at the immune cell population level but, nevertheless, can be functionally dramatic. A hallmark of lead-induced immunotoxicity is a pronounced shift in the balance in T helper cell function toward T helper 2 responses at the expense of T helper 1 functions. This bias alters the nature and range of immune responses that can be produced thereby influencing host susceptibility to various diseases. Immunotoxic responses to lead appear to differ across life stages not only quantitatively with regard to dose response, but also qualitatively in terms of the spectrum of immune alterations. Experimental studies in several lab animal species suggest the latter stages of gestation are a period of considerable sensitivity for lead-induced immunotoxicity. This review describes the basic characteristics of lead-induced immunotoxicity emphasizing experimental animal results. It also provides a framework for the consideration of toxicant exposure effects across life stages. The existence of and probable basis for developmental windows of immune hyper-susceptibility are presented. Finally, the potential for lead to serve as a perinatal risk factor for childhood asthma as well as other diseases is considered

  10. Michael Akam and the rise of evolutionary developmental biology.

    Science.gov (United States)

    Stern, David L; Dawes-Hoang, Rachel E

    2010-01-01

    Michael Akam has been awarded the 2007 Kowalevsky medal for his many research accomplishments in the area of evolutionary developmental biology. We highlight three tributaries of Michaels contribution to evolutionary developmental biology. First, he has made major contributions to our understanding of development of the fruit fly, Drosophila melanogaster. Second, he has maintained a consistent focus on several key problems in evolutionary developmental biology, including the evolving role of Hox genes in arthropods and, more recently, the evolution of segmentation mechanisms. Third, Michael has written a series of influential reviews that have integrated progress in developmental biology into an evolutionary perspective. Michael has also made a large impact on the field through his effective mentorship style, his selfless promotion of younger colleagues, and his leadership of the University Museum of Zoology at Cambridge and the European community of evolutionary developmental biologists.

  11. Thirty years of research on developmental neurolinguistics.

    Science.gov (United States)

    Locke, J L

    1992-01-01

    A body of medically important work has accumulated in the field of developmental neurolinguistics in the 30 years since Lenneberg set forth a research agenda for that field, consisting of the following: (1) the physiologic specialization or endowment for speech; (2) the genetic origin or natural history of vocalization and speech; (3) the nature of prelinguistic behavior, making possible the detection of any environmental (social) influences; (4) the development of motor-speech organization from birth; and (5) the limiting effects of deficient intelligence, hearing, and environmental stimulation. Subsequent study of these questions has established a genetic, neuroanatomic, and functional basis for such outwardly disparate disorders as dyslexia, stuttering, autism, and delayed language. Studies of emergent motor behavior suggest that babbling may index a state of neural maturation favoring expression of spoken languages. Based on studies of the congenitally deaf, mentally retarded, and other clinical populations it is now considered possible to detect early warning signs of developmental language disorders during the first year of life based on analyses of vocal turn-taking, gesturing, and utterance complexity.

  12. Two unrelated children with overlapping 6q25.3 deletions, motor speech disorders, and language delays.

    Science.gov (United States)

    Peter, Beate; Lancaster, Hope; Vose, Caitlin; Fares, Amna; Schrauwen, Isabelle; Huentelman, Matthew

    2017-10-01

    Interstitial and terminal 6q25 deletions are associated with developmental delays, hypotonia, eye pathologies, craniofacial dysmorphologies, and structural brain anomalies. In most cases, speech and language deficits are not described in detail. We report on a case (Patient 1, age 7 years) with a de novo 6q25.3-qter deletion, 11.1 Mb long and encompassing 108 genes, and a case (Patient 2, age 5 years) with an inherited interstitial 6q25.3 deletion, located within Patient 1's deletion region and 403 kb long, the smallest 6q25 deletion reported to date. Both children have hypotonia, motor speech disorders, and expressive language delays. Patient 1's speech was characterized by childhood apraxia of speech (CAS) and dysarthria. Other findings include developmental delay, ataxic cerebral palsy, optic nerve dysplagia, and atypical brain morphologies regarding the corpus callosum and gyration patterns, a clinical profile that closely matches a previously reported case with a nearly identical deletion. Patient 2 had speech characterized by CAS and typical nonverbal processing abilities. His father, a carrier, had typical speech and language but showed difficulties with complex motor speech and hand motor tasks, similar to other adults with residual signs of CAS. The small deletion in this family contains the IGF2R-AIRN-SLC22A2-SLC22A3 gene cluster, which is associated with imprinting and maternal-specific expression of Igf2R, Slc22a2, and Slc22a3 in mice, whereas imprinting in humans is a polymorphic trait. The shared phenotypes in the two patients might be associated with the deletion of the gene cluster. © 2017 Wiley Periodicals, Inc.

  13. Understanding and Counseling Gay Men: A Developmental Perspective.

    Science.gov (United States)

    Gumaer, James

    1987-01-01

    Reviews current concepts and research concerning homosexuality with emphasis on understanding gay men and their relationship behaviors. Presents counseling considerations from a developmental perspective, and includes a case example. (Author/KS)

  14. Optical modulator including grapene

    Science.gov (United States)

    Liu, Ming; Yin, Xiaobo; Zhang, Xiang

    2016-06-07

    The present invention provides for a one or more layer graphene optical modulator. In a first exemplary embodiment the optical modulator includes an optical waveguide, a nanoscale oxide spacer adjacent to a working region of the waveguide, and a monolayer graphene sheet adjacent to the spacer. In a second exemplary embodiment, the optical modulator includes at least one pair of active media, where the pair includes an oxide spacer, a first monolayer graphene sheet adjacent to a first side of the spacer, and a second monolayer graphene sheet adjacent to a second side of the spacer, and at least one optical waveguide adjacent to the pair.

  15. Web-Based Intervention to Teach Developmentally Supportive Care to Parents of Preterm Infants: Feasibility and Acceptability Study.

    Science.gov (United States)

    Luu, Thuy Mai; Xie, Li Feng; Peckre, Perrine; Cote, Sylvana; Karsenti, Thierry; Walker, Claire-Dominique; Gosselin, Julie

    2017-11-30

    Preterm birth affects 8% to 11% of the population and conveys a significant risk of developmental delays. Intervention programs that support child development have been shown to have a positive impact on early motor and cognitive development and on parental well-being. However, these programs are often difficult to implement in a real-life setting due to lack of resources. Hence, our multidisciplinary team developed Mieux Agir au Quotidien (MAQ) to teach developmentally supportive care to parents of preterm infants with the goal of improving child development and parental outcomes. Our intervention included 3 in-person workshops that occurred prior to hospital discharge and a Web-based platform with written and videotaped materials that addressed 5 main themes: (1) infant behavioral cues, (2) flexion positioning; (3) oral feeding support, (4) parent-infant interactions, and (5) anticipation of developmental milestones. This study aimed to test the feasibility and acceptability of the intervention by parents of preterm infants and assess clinical benefits on child neurodevelopment and parental outcomes during the first year of life. A total of 107 infants born at children and investigate how Web-based technologies can efficiently complement individualized intervention to alleviate the burden on health care resources. ©Thuy Mai Luu, Li Feng Xie, Perrine Peckre, Sylvana Cote, Thierry Karsenti, Claire-Dominique Walker, Julie Gosselin. Originally published in JMIR Research Protocols (http://www.researchprotocols.org), 30.11.2017.

  16. Teaching and research on Developmental Biology in Portugal.

    Science.gov (United States)

    Thorsteinsdóttir, Sólveig; Rodrigues, Gabriela; Crespo, Eduardo G

    2009-01-01

    Developmental Biology has established itself as a solid field of teaching and research in Portugal. Its history is recent, generally considered to have started with the pioneering work of Augusto Celestino da Costa at the beginning of the 20th century. However, research groups were very few and, until the early 1990s, teaching beyond morphological and comparative embryology was uncommon. In 1994, the first university course dedicated to Developmental Biology as a separate field from Embryology was created at the Faculty of Sciences of the University of Lisbon and a course on Plant Differentiation and Morphogenesis was also initiated. A Masters programme in Developmental Biology followed at the Lusofona University in 1996. Subsequently, modules of Developmental Biology were included in many Embryology courses and eventually more Developmental Biology courses were created. From 1999 onwards, the number of research groups working in Developmental Biology started to increase, many of which were initiated by researchers who had had the opportunity to pursue their PhD and/or post-doc studies abroad. The Instituto Gulbenkian de Cincia (Gulbenkian Institute of Science) became the first home of most of these groups, but several later spread to other institutions. This increased activity in turn has stimulated teaching of Developmental Biology and more students have been getting interested in the field. This positive feedback loop makes it a nice time to be teaching and working in Developmental Biology in Portugal.

  17. High resolution digital delay timer

    Science.gov (United States)

    Martin, Albert D.

    1988-01-01

    Method and apparatus are provided for generating an output pulse following a trigger pulse at a time delay interval preset with a resolution which is high relative to a low resolution available from supplied clock pulses. A first lumped constant delay (20) provides a first output signal (24) at predetermined interpolation intervals corresponding to the desired high resolution time interval. Latching circuits (26, 28) latch the high resolution data (24) to form a first synchronizing data set (60). A selected time interval has been preset to internal counters (142, 146, 154) and corrected for circuit propagation delay times having the same order of magnitude as the desired high resolution. Internal system clock pulses (32, 34) count down the counters to generate an internal pulse delayed by an interval which is functionally related to the preset time interval. A second LCD (184) corrects the internal signal with the high resolution time delay. A second internal pulse is then applied to a third LCD (74) to generate a second set of synchronizing data (76) which is complementary with the first set of synchronizing data (60) for presentation to logic circuits (64). The logic circuits (64) further delay the internal output signal (72) to obtain a proper phase relationship of an output signal (80) with the internal pulses (32, 34). The final delayed output signal (80) thereafter enables the output pulse generator (82) to produce the desired output pulse (84) at the preset time delay interval following input of the trigger pulse (10, 12).

  18. System delays in breast cancer

    African Journals Online (AJOL)

    we notice a discrepancy in incidence rates between various ethnic/race .... Thailand. 180. 2. 3. 5 to diagnosis NOT treatment‡. This study. South Africa 45. -. 2.5. 3. 1.25. 3. -. 10. *Total delay refers to totals for available datasets and not necessarily mean delay to treatment/surgery commencement. †Montella et al. presented ...

  19. Magnetic bearing optical delay line

    NARCIS (Netherlands)

    Dool, T.C. van den; Kamphues, F.G.; Fouss, B.; Henrioulle, K.; Hogenhuis, H.

    2004-01-01

    TNO TPD, in close cooperation with Micromega-Dynamics and Dutch Space, has developed an advanced Optical Delay Line (ODL) for use in PRIMA, GENIE and other ground based interferometers. The delay line design is modular and flexible, which makes scaling for other applications a relatively easy task.

  20. #FakeNobelDelayReasons

    CERN Multimedia

    2013-01-01

    Tuesday’s hour-long delay of the Nobel Prize in Physics announcement was (and still is) quite the cause for speculation. But on the Twittersphere, it was simply the catalyst for some fantastic puns, so-bad-they're-good physics jokes and other shenanigans. Here are some of our favourite #FakeNobelDelayReasons.    

  1. Picosecond resolution programmable delay line

    International Nuclear Information System (INIS)

    Suchenek, Mariusz

    2009-01-01

    The note presents implementation of a programmable delay line for digital signals. The tested circuit has a subnanosecond delay range programmable with a resolution of picoseconds. Implementation of the circuit was based on low-cost components, easily available on the market. (technical design note)

  2. Associations between thyroid dysfunction and developmental status in children with excessive iodine status.

    Directory of Open Access Journals (Sweden)

    Inger Aakre

    Full Text Available Adequate iodine status and normal thyroid hormone synthesis are important for optimal child development. In this study, we explored whether young children's developmental status is associated with thyroid dysfunction in an area of chronic excessive iodine exposure.We included 298 children between 18 and 48 months of age residing in Algerian refugee camps. Early child development was measured using the Ages and Stages Questionnaires, third edition (ASQ-3, consisting of five domains: Communication, Gross Motor, Fine Motor, Problem Solving and Personal-Social. Due to poor discriminatory ability in the Gross Motor domain, the total ASQ-3 scores were calculated both including and excluding this domain. Urinary iodine concentration (UIC, thyroid hormones (TSH, FT3 and FT4, thyroid antibodies and serum thyroglobulin (Tg were measured.The median UIC was 451.6 μg/L, and approximately 72% of the children had a UIC above 300 μg/L. Furthermore, 14% had thyroid disturbances, of whom 10% had TSH outside the reference range. Children with thyroid disturbances and TSH outside the reference ranges had lower odds of being among the 66% highest total ASQ scores, with adjusted odds ratios (95% CI of 0.46 (0.23, 0.93 and 0.42 (0.19, 0.94, respectively.We found an association between thyroid dysfunction and poorer developmental status among children with excessive iodine intake. The high iodine intake may have caused the thyroid dysfunction and hence the delayed developmental status; however, other influential factors cannot be excluded. Optimal child development is important for a sustainable future. With iodine excess being an increasing problem globally, this subject should be further explored.

  3. Delay discounting of different commodities.

    Science.gov (United States)

    Weatherly, Jeffrey N; Terrell, Heather K; Derenne, Adam

    2010-01-01

    When outcomes are delayed, their value is decreased. Delay discounting is a much-studied topic because it is correlated with certain disorders (e.g., pathological gambling). The present study attempts to determine how people would delay discount a number of different commodities, ranging from money to dating partners to federal education legislation. Participants completed delay discounting tasks pertaining to 5 different commodities, with a different set of 5 commodities for 2 groups. Results showed that different commodities were often discounted differently. Both data sets were also subjected to factor analysis. A 2-factor solution was found for both, suggesting that there are multiple "domains" of commodities. This finding is of interest because it suggests that measuring delay discounting for one commodity within a particular domain of commodities will be predictive of how people discount other commodities within that domain but will not be predictive of how they discount commodities within another domain.

  4. Constructivist developmental theory is needed in developmental neuroscience

    Science.gov (United States)

    Arsalidou, Marie; Pascual-Leone, Juan

    2016-12-01

    Neuroscience techniques provide an open window previously unavailable to the origin of thoughts and actions in children. Developmental cognitive neuroscience is booming, and knowledge from human brain mapping is finding its way into education and pediatric practice. Promises of application in developmental cognitive neuroscience rests however on better theory-guided data interpretation. Massive amounts of neuroimaging data from children are being processed, yet published studies often do not frame their work within developmental models—in detriment, we believe, to progress in this field. Here we describe some core challenges in interpreting the data from developmental cognitive neuroscience, and advocate the use of constructivist developmental theories of human cognition with a neuroscience interpretation.

  5. I. DEVELOPMENTAL METHODOLOGY AS A CENTRAL SUBDISCIPLINE OF DEVELOPMENTAL SCIENCE.

    Science.gov (United States)

    Card, Noel A

    2017-06-01

    This first chapter introduces the main goals of the monograph and previews the remaining chapters. The goals of this monograph are to provide summaries of our current understanding of advanced developmental methodologies, provide information that can advance our understanding of human development, identify shortcomings in our understanding of developmental methodology, and serve as a flagpost for organizing developmental methodology as a subdiscipline within the broader field of developmental science. The remaining chapters in this monograph address issues in design (sampling and big data), longitudinal data analysis, and issues of replication and research accumulation. The final chapter describes the history of developmental methodology, considers how the previous chapters in this monograph fit within this subdiscipline, and offers recommendations for further advancement. © 2017 The Society for Research in Child Development, Inc.

  6. Effects of television exposure on developmental skills among young children.

    Science.gov (United States)

    Lin, Ling-Yi; Cherng, Rong-Ju; Chen, Yung-Jung; Chen, Yi-Jen; Yang, Hei-Mei

    2015-02-01

    Literature addressing the effects of television exposure on developmental skills of young children less than 36 months of age is scarce. This study explored how much time young children spend viewing television and investigated its effects on cognitive, language, and motor developmental skills. Data were collected from the Pediatric Clinics at University Medical Center in Southern Taiwan. The participants comprised 75 children who were frequently exposed to television and 75 children who were not or infrequently exposed to television between 15 and 35 months old. The age and sex were matched in the two groups. The Bayley Scales of Infant Development-second edition and Peabody Developmental Motor Scales-second edition were used to identify developmental skills. Independent t-tests, χ(2) tests, and logistic regression models were conducted. Among 75 children who were frequently exposed to television, young children watched a daily average of 67.4 min of television before age 2, which was excessive according to the American Academy of Pediatrics. Viewing television increased the risk of delayed cognitive, language, and motor development in children who were frequently exposed to television. Cognitive, language, and motor delays in young children were significantly associated with how much time they spent viewing television. The type of care providers was critical in determining the television-viewing time of children. We recommend that pediatric practitioners explain the impacts of television exposure to parents and caregivers to ensure cognitive, language, and motor development in young children. Advocacy efforts must address the fact that allowing young children to spend excessive time viewing television can be developmentally detrimental. Copyright © 2014 Elsevier Inc. All rights reserved.

  7. The usability of passenger delay models in socio-economic analysis

    DEFF Research Database (Denmark)

    Thorhauge, Mikkel

    . The main problem when including passenger delays is to determine the value of time for passenger delays and how to include the delays in a socio-economic analysis. This is due to the fact that passenger delays are not defined unambiguously. In general, delays can occur on different parts of a journey...... the passenger may have experienced a delay (or travelled along a different route than planned) during the journey. Note that this paper is regarded as a prequel to the article “Optimization of timetable supplement from a passenger based socio-economic point of view” (Thorhauge, 2010). This article is based...

  8. Risk factors of children who exited from an early intervention program without an identified disability and returned with a developmental disability.

    Science.gov (United States)

    Giannoni, Peggy P; Kass, Philip H

    2010-01-01

    A retrospective cohort study was undertaken to identify risk factors for children at greatest risk of delayed diagnosis of developmental disability. Two thousand four hundred and thirty-nine children were selected for this study due to their participation in the California Early Start (ES) Program in 1998. Comparisons were made among children that had no break in services offered through the ES Program versus children that returned with a disability after exiting the ES Program. Factors examined include child's condition and qualifying risk factors, mother's demographic characteristics, family's risk factors, and risk scores developed for each county in which the family resided. Children with a delay in diagnosis of a disability have characteristics that fall outside the norm for the identification of a disability. It is not clear if this is related to age-specific manifestation to the appearance of a disability or to conditions difficult to diagnose. 2010 Elsevier Ltd. All rights reserved.

  9. Delayed onset muscle soreness: is massage effective?

    Science.gov (United States)

    Nelson, Nicole

    2013-10-01

    Despite the widespread occurrence of delayed onset muscle soreness (DOMS), there is little consensus as to the exact cause or which treatments may be most effective at alleviating symptoms. Greater understanding of DOMS can give sports medicine and fitness professionals an opportunity to help prevent or speed recovery of this performance limiting condition. This article will review the DOMS literature, including the potential role of psychosocial factors and explore studies which involve massage therapy as a treatment modality. Articles from PubMed, MEDLINE, Google Scholar, and references from articles are included in this review. Search words and phrases included delayed onset muscle soreness, repeated bout effect, massage effectiveness, exercise induced muscle damage, and eccentric exercise. Copyright © 2013 Elsevier Ltd. All rights reserved.

  10. Rethinking developmental toxicity testing: Evolution or revolution?

    Science.gov (United States)

    Scialli, Anthony R; Daston, George; Chen, Connie; Coder, Prägati S; Euling, Susan Y; Foreman, Jennifer; Hoberman, Alan M; Hui, Julia; Knudsen, Thomas; Makris, Susan L; Morford, LaRonda; Piersma, Aldert H; Stanislaus, Dinesh; Thompson, Kary E

    2018-02-12

    Current developmental toxicity testing adheres largely to protocols suggested in 1966 involving the administration of test compound to pregnant laboratory animals. After more than 50 years of embryo-fetal development testing, are we ready to consider a different approach to human developmental toxicity testing? A workshop was held under the auspices of the Developmental and Reproductive Toxicology Technical Committee of the ILSI Health and Environmental Sciences Institute to consider how we might design developmental toxicity testing if we started over with 21st century knowledge and techniques (revolution). We first consider what changes to the current protocols might be recommended to make them more predictive for human risk (evolution). The evolutionary approach includes modifications of existing protocols and can include humanized models, disease models, more accurate assessment and testing of metabolites, and informed approaches to dose selection. The revolution could start with hypothesis-driven testing where we take what we know about a compound or close analog and answer specific questions using targeted experimental techniques rather than a one-protocol-fits-all approach. Central to the idea of hypothesis-driven testing is the concept that testing can be done at the level of mode of action. It might be feasible to identify a small number of key events at a molecular or cellular level that predict an adverse outcome and for which testing could be performed in vitro or in silico or, rarely, using limited in vivo models. Techniques for evaluating these key events exist today or are in development. Opportunities exist for refining and then replacing current developmental toxicity testing protocols using techniques that have already been developed or are within reach. © 2018 The Authors. Birth Defects Research Published by Wiley Periodicals, Inc.

  11. Developmental Neurotoxicology: History and Outline of ...

    Science.gov (United States)

    The present work provides a brief review of basic concepts in developmental neurotoxicology, as well as current representative testing guidelines for evaluating developmental neurotoxicity (DNT) of xenobiotics. Historically, DNT was initially recognized as a “functional” teratogenicity: the main concern was that prenatal and/or early postnatal exposures to chemicals during critical periods of central nervous system (CNS) development would cause later functional abnormalities of the brain. Current internationally harmonized DNT study guidelines are thus intended to predict adverse effects of test compounds on the developing CNS by observing such postnatal parameters as motor activity, startle response, and learning and memory, as well as neropathological alterations. The reliability of current DNT study guidelines and sensitivity of testing methodologies recommended in these guidelines have been confirmed by retrospective evaluations of the many international and domestic collaborative validation studies in developed nations including Japan. Invited review with brief review of basic concepts in developmental neurotoxicology, as well as current representative testing guidelines for evaluating developmental neurotoxicity (DNT) of xenobiotics.

  12. Management of delayed nuclear power plant projects

    International Nuclear Information System (INIS)

    1999-09-01

    According to the available information at the IAEA PRIS (Power Reactor Information System) at the end of 1998 there were more than 40 nuclear power plant projects with delays of five or more years with respect to the originally scheduled commercial operation. The degree of conformance with original construction schedules showed large variations due to several issues, including financial, economic and public opinion factors. Taking into account the number of projects with several years delay in their original schedules, it was considered useful to identify the subject areas where exchange of experience among Member States would be mutually beneficial in identification of problems and development of guidance for successful management of the completion of these delayed projects. A joint programme of the IAEA Departments of Nuclear Energy (Nuclear Power Engineering Section) and Technical Co-operation (Europe Section, with additional support from the Latin America and West Asia Sections) was set up during the period 1997-1998. The specific aim of the programme was to provide assistance in the management of delayed nuclear power plants regarding measures to maintain readiness for resuming the project implementation schedule when the conditions permit. The integration of IAEA interdepartmental resources enabled the participation of 53 experts from 14 Member States resulting in a wider exchange of experience and dissemination of guidance. Under the framework of the joint programme, senior managers directly responsible for delayed nuclear power plant projects identified several issues or problem areas that needed to be addressed and guidance on management be provided. A work plan for the development of several working documents, addressing the different issues, was established. Subsequently these documents were merged into a single one to produce the present publication. This publication provides information and practical examples on necessary management actions to preserve

  13. Analyzing Double Delays at Newark Liberty International Airport

    Science.gov (United States)

    Evans, Antony D.; Lee, Paul

    2016-01-01

    When weather or congestion impacts the National Airspace System, multiple different Traffic Management Initiatives can be implemented, sometimes with unintended consequences. One particular inefficiency that is commonly identified is in the interaction between Ground Delay Programs (GDPs) and time based metering of internal departures, or TMA scheduling. Internal departures under TMA scheduling can take large GDP delays, followed by large TMA scheduling delays, because they cannot be easily fitted into the overhead stream. In this paper we examine the causes of these double delays through an analysis of arrival operations at Newark Liberty International Airport (EWR) from June to August 2010. Depending on how the double delay is defined between 0.3 percent and 0.8 percent of arrivals at EWR experienced double delays in this period. However, this represents between 21 percent and 62 percent of all internal departures in GDP and TMA scheduling. A deep dive into the data reveals that two causes of high internal departure scheduling delays are upstream flights making up time between their estimated departure clearance times (EDCTs) and entry into time based metering, which undermines the sequencing and spacing underlying the flight EDCTs, and high demand on TMA, when TMA airborne metering delays are high. Data mining methods (currently) including logistic regression, support vector machines and K-nearest neighbors are used to predict the occurrence of double delays and high internal departure scheduling delays with accuracies up to 0.68. So far, key indicators of double delay and high internal departure scheduling delay are TMA virtual runway queue size, and the degree to which estimated runway demand based on TMA estimated times of arrival has changed relative to the estimated runway demand based on EDCTs. However, more analysis is needed to confirm this.

  14. Robust filtering and fault detection of switched delay systems

    CERN Document Server

    Wang, Dong; Wang, Wei

    2013-01-01

    Switched delay systems appear in a wide field of applications including networked control systems, power systems, memristive systems. Though the large amount of ideas with respect to such systems have generated, until now, it still lacks a framework to focus on filter design and fault detection issues which are relevant to life safety and property loss. Beginning with the comprehensive coverage of the new developments in the analysis and control synthesis for switched delay systems, the monograph not only provides a systematic approach to designing the filter and detecting the fault of switched delay systems, but it also covers the model reduction issues. Specific topics covered include: (1) Arbitrary switching signal where delay-independent and delay-dependent conditions are presented by proposing a linearization technique. (2) Average dwell time where a weighted Lyapunov function is come up with dealing with filter design and fault detection issues beside taking model reduction problems. The monograph is in...

  15. [Developmental venous anomaly (DVA)].

    Science.gov (United States)

    Zimmer, A; Hagen, T; Ahlhelm, F; Viera, J; Reith, W; Schulte-Altedorneburg, G

    2007-10-01

    As congenital anatomic variants of venous drainage, developmental venous anomalies (DVA) represent up to 60% of all cerebral vascular malformations. The prior term "venous angioma" is a misnomer implicating an abnormal vascular structure with an increased bleeding risk. They are often found incidentally and are hardly ever symptomatic. Their morphologic characteristics are dilated vessels in the white matter, which converge on a greater collector vein, forming the typical caput medusae. They drain into the superficial or deep venous system. The frequent association with other, potentially bleeding-prone vascular malformations is clinically relevant, in particular cavernous angioma, which might require therapeutic action. Therefore, coincident vascular lesions need to be actively sought by appropriate additional imaging techniques.

  16. Developmental programming of happiness.

    Science.gov (United States)

    Schmidt, Louis A; Fortier, Paz; Lahat, Ayelet; Tang, Alva; Mathewson, Karen J; Saigal, Saroj; Boyle, Michael H; Van Lieshout, Ryan J

    2017-09-01

    Being born at an extremely low birth weight (ELBW; programming hypotheses. Interfacing prenatal programming and differential susceptibility hypotheses, we tested whether individuals with ELBW in different childhood rearing environments showed different attention biases to positive and negative facial emotions in adulthood. Using the oldest known, prospectively followed cohort of ELBW survivors, we found that relative to normal birth weight controls (NBW; >2,500 grams), ELBW survivors displayed the highest and lowest attention bias to happy faces at age 30-35, depending on whether their total family income at age 8 was relatively low (environmental match) or high (environmental mismatch), respectively. This bias to happy faces was associated with a reduced likelihood of emotional problems. Findings suggest that differential susceptibility to positive emotions may be prenatally programmed, with effects lasting into adulthood. We discuss implications for integrating prenatal programming and differential susceptibility hypotheses, and the developmental origins of postnatal plasticity and resilience. © 2017 Wiley Periodicals, Inc.

  17. Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome : A systematic and prospective study in 34 children

    NARCIS (Netherlands)

    Zwanenburg, Renée J; Ruiter, Selma A J; van den Heuvel, Edwin R; Flapper, Boudien C T; Van Ravenswaaij-Arts, Conny M A

    2016-01-01

    Background: Phelan- McDermid syndrome (PMS) or 22q13.3 deletion syndrome is characterized by global developmental delay, cognitive deficits, and behaviour in the autism spectrum. Knowledge about developmental and behavioural characteristics of this rare chromosomal disorder is still limited despite

  18. Psychomotor delay, a possible rare presentation of moyamoya disease

    International Nuclear Information System (INIS)

    Ashrafi, M. R.; Alizadeh, H.; Yazdani, Sh.; Mohseni, M.; Mohamadi, M.

    2011-01-01

    Moyamoya disease is a rare, chronic cerebrovascular occlusive disease of unknown etiology. It is characterized by progressive stenosis of the arteries of the circle of Willis leading to ischemic strokes in young people and cerebral hemorrhage, which is more frequent in adults. Secondarily, an abnormal network of fine collateral vessels arises at the base of the brain. The term moyamoya refers to the angiographic appearance of the cerebral vasculature. We present such a disease in an 18-month-old Iranian girl with global developmental delay, which is a very rare presentation of moyamoya disease. She was diagnosed by magnetic resonance imaging and magnetic resonance angiography.

  19. Developmental hearing loss impedes auditory task learning and performance in gerbils

    Science.gov (United States)

    von Trapp, Gardiner; Aloni, Ishita; Young, Stephen; Semple, Malcolm N.; Sanes, Dan H.

    2016-01-01

    The consequences of developmental hearing loss have been reported to include both sensory and cognitive deficits. To investigate these issues in a non-human model, auditory learning and asymptotic psychometric performance were compared between normal hearing (NH) adult gerbils and those reared with conductive hearing loss (CHL). At postnatal day 10, before ear canal opening, gerbil pups underwent bilateral malleus removal to induce a permanent CHL. Both CHL and control animals were trained to approach a water spout upon presentation of a target (Go stimuli), and withhold for foils (Nogo stimuli). To assess the rate of task acquisition and asymptotic performance, animals were tested on an amplitude modulation (AM) rate discrimination task. Behavioral performance was calculated using a signal detection theory framework. Animals reared with developmental CHL displayed a slower rate of task acquisition for AM discrimination task. Slower acquisition was explained by an impaired ability to generalize to newly introduced stimuli, as compared to controls. Measurement of discrimination thresholds across consecutive testing blocks revealed that CHL animals required a greater number of testing sessions to reach asymptotic threshold values, as compared to controls. However, with sufficient training, CHL animals approached control performance. These results indicate that a sensory impediment can delay auditory learning, and increase the risk of poor performance on a temporal task. PMID:27746215

  20. Developmental hearing loss impedes auditory task learning and performance in gerbils.

    Science.gov (United States)

    von Trapp, Gardiner; Aloni, Ishita; Young, Stephen; Semple, Malcolm N; Sanes, Dan H

    2017-04-01

    The consequences of developmental hearing loss have been reported to include both sensory and cognitive deficits. To investigate these issues in a non-human model, auditory learning and asymptotic psychometric performance were compared between normal hearing (NH) adult gerbils and those reared with conductive hearing loss (CHL). At postnatal day 10, before ear canal opening, gerbil pups underwent bilateral malleus removal to induce a permanent CHL. Both CHL and control animals were trained to approach a water spout upon presentation of a target (Go stimuli), and withhold for foils (Nogo stimuli). To assess the rate of task acquisition and asymptotic performance, animals were tested on an amplitude modulation (AM) rate discrimination task. Behavioral performance was calculated using a signal detection theory framework. Animals reared with developmental CHL displayed a slower rate of task acquisition for AM discrimination task. Slower acquisition was explained by an impaired ability to generalize to newly introduced stimuli, as compared to controls. Measurement of discrimination thresholds across consecutive testing blocks revealed that CHL animals required a greater number of testing sessions to reach asymptotic threshold values, as compared to controls. However, with sufficient training, CHL animals approached control performance. These results indicate that a sensory impediment can delay auditory learning, and increase the risk of poor performance on a temporal task. Copyright © 2016 Elsevier B.V. All rights reserved.

  1. Delay-dependent stability of neural networks of neutral type with time delay in the leakage term

    Science.gov (United States)

    Li, Xiaodi; Cao, Jinde

    2010-07-01

    This paper studies the global asymptotic stability of neural networks of neutral type with mixed delays. The mixed delays include constant delay in the leakage term (i.e. 'leakage delay'), time-varying delays and continuously distributed delays. Based on the topological degree theory, Lyapunov method and linear matrix inequality (LMI) approach, some sufficient conditions are derived ensuring the existence, uniqueness and global asymptotic stability of the equilibrium point, which are dependent on both the discrete and distributed time delays. These conditions are expressed in terms of LMI and can be easily checked by the MATLAB LMI toolbox. Even if there is no leakage delay, the obtained results are less restrictive than some recent works. It can be applied to neural networks of neutral type with activation functions without assuming their boundedness, monotonicity or differentiability. Moreover, the differentiability of the time-varying delay in the non-neutral term is removed. Finally, two numerical examples are given to show the effectiveness of the proposed method.

  2. Visual and SPM analysis of regional cerebral perfusion with Tc-99m ECD brain SPECT in patients with developmental language disorder

    International Nuclear Information System (INIS)

    Yoon, Joon Kee; Lee, Myung Hoon; Joh, Chul Woo; Yoon, Seok Nam; Oh, Eun Young

    2003-01-01

    Developmental language disorder (DLD) refers to inadequate language acquisition at the expected age in children with otherwise normal development. However, language delay can be observed in patients with other developmental disoder (ODD). We, therefore, evaluated regional cerebral perfusion pattern in patients with DLD and ODD by means of visual and SPM analysis. Twelve patients, who underwent Tc-99m ECD brain SPECT within 3 weeks of their first visit, were included in the study. Psychological and language tests classified the patients into 2 groups ; 6 with DLD (3-7 yr, 5 male and I female) and 6 with ODD (2-6 yr, 6 male). Visual analysis for regional cerebral perfusion was done in each patient. SPM with 7 controls (age=7) was performed to evaluate difference between 2 groups using t-test. P value of less than 0.005 was considered to be significant. All patients had significant language delay for their age (9 month 3.5 yr). Among 6 patients with ODD, 4 had pervasive developmental disorder, 1 mental retardation and 1 attachment disorder. Visual analysis revealed significant perfusion decrease in only 1 patient with DLD and 2 with ODD ; the regions were left parieto-temporal cortex, both frontal and cerebellar cortices, and right temporal cortex respectively. Nine of 12 patients showed normal perfusion. SPM demonstrated perfusion decrease in left inferior frontal cortex and left superior parietal cortex (Wernicke's area) in patients with DLD, while, in patients with ODD, perfusion decrease was mostly located in the right hemisphere (lateral frontoorbital gyrus, occipitotemporal gyrus, cuneus and cerebellum). Corpus callosum showed no significant perfusion abnormality in both groups. Regional cerebral perfusion of patients with DLD, which was mainly located in the speech area, is quite different from that of ODD-patients with language delay. While SPM successfully revealed this difference in perfusion pattern, visual analysis had limited value

  3. Management of delayed nuclear power plant projects

    International Nuclear Information System (INIS)

    2005-01-01

    The IAEA assists the management of organizations responsible for Nuclear Power Plant Projects with significant delays with respect to the originally scheduled commercial operation. Several Member States have Nuclear Power Plant Projects with delays of five or more years with respect to the originally scheduled commercial operation. The degree of conformance with original construction schedules shows large variations due to several issues, including financial, economic and public opinion factors. Solving the special difficulties related with a delayed NPP project is problematic and dependent on the particular country situation. However it is not regarded as an isolated national problem but as a significant issue with a number of difficulties shared by several Member States. The IAEA collects information and supports the management of delayed NPP projects by identifying main common issues, gathering available experience and addressing specific needs. On this background the IAEA is in the position to provide unique impartial assistance based upon best international practices. This enables Member States to maintain readiness for resuming the project construction when the conditions permit and to strengthen management's abilities for the completion of the project. The IAEA's service is tailored to the needs and requirements of the requesting organization, implemented on-site by international experts and addresses areas such as project control measures, human resources, updating to technological and regulatory requirements, project data, nuclear safety review, physical protection and nuclear security and preparation to resume project construction and operation

  4. Factors affecting delayed walking skill in malnourished children.

    Science.gov (United States)

    Ojofeitimi, E O; Elegbe, I; Jinadu, M K; Oladipo, C A

    1984-01-01

    This research examined children between 13 and 23 months of age with developmental delays in walking. Children in the experimental group received intensive infant stimulation and, subsequently approximately 71% were able to walk by themselves. In contrast, 32% of those children receiving only verbal instruction were able to achieve this important milestone. There was a significant difference (p less than 0.05) between the control and experimental group in acquiring walking skills. Mothers' lack of awareness about infant stimulation and lack of supervision on the part of health workers are the major contributing factors to delayed walking skill in these children. The study highlights the importance of taking health care to the home of clients, the most neglected aspect of primary health in this part of the world.

  5. Predictors of Delayed Healthcare Seeking Among American Muslim Women.

    Science.gov (United States)

    Vu, Milkie; Azmat, Alia; Radejko, Tala; Padela, Aasim I

    2016-06-01

    Delayed care seeking is associated with adverse health outcomes. For Muslim women, delayed care seeking might include religion-related motivations, such as a preference for female clinicians, concerns about preserving modesty, and fatalistic beliefs. Our study assesses associations between religion-related factors and delayed care seeking due to a perceived lack of female clinicians. Surveys were distributed to Muslim women attending mosque and community events in Chicago. Survey items included measures of religiosity, religious fatalism, discrimination, modesty, and alternative medicine utilization and worship practices. The outcome measure asked for levels of agreement to the statement "I have delayed seeking medical care when no woman doctor is available to see me." Two hundred fifty-four women completed the survey with nearly equal numbers of African Americans (26%), Arab Americans (33%), and South Asians (33%). Fifty-three percent reported delays in care seeking due to a perceived lack of female clinicians. In multivariate analysis adjusting for sociodemographic factors, higher religiosity (odds ratio [OR] = 5.2, p 20 years (OR = 0.22, p Muslim women reported delays in care seeking due to a perceived lack of female clinicians. Women with higher levels of modesty and self-rated religiosity had higher odds of delaying care. Women who had lived in the United States for longer durations had lower odds of delaying care. Our research highlights the need for gender-concordant providers and culturally sensitive care for American Muslims.

  6. Simulated developmental and reproductive impacts on amphibian populations and implications for assessing long-term effects.

    Science.gov (United States)

    Awkerman, Jill A; Raimondo, Sandy

    2018-03-01

    Fish endpoints measured in early life stage toxicity tests are often used as representative of larval amphibian sensitivity in Ecological Risk Assessment (ERA). This application potentially overlooks the impact of developmental delays on amphibian metamorphosis, and thereby reduced survival, in amphibian populations constrained by habitat availability. Likewise, the effects of reduced productivity or altered sexual development as a result of chemical exposure are not presented in terms of lower population fecundity in these surrogate tests. Translating endpoints measured in toxicity tests to those that are more representative of amphibian ecology and population dynamics provides a means of identifying how developmental effects result in long-term impacts. Here we compare effects of developmental delay on metamorphosis success in six anuran species and simulate population-level impacts of subsequent reductions in larval survival as well as potential reductions in fecundity as a result of developmental impacts. We use deterministic matrix models to compare realistic combinations of amphibian demographic rates and relative impacts of reduced growth on larval survival and subsequently on population growth. Developmental delays are less detrimental in species with longer and less synchronous larval periods. All six species were most sensitive to changes in first-year survival, and damping ratios were generally a good indicator of resilience to perturbations in both larval survival and fecundity. Further identification of species and population-level vulnerabilities can improve the evaluation of sublethal effects in relevant context for ERA. Published by Elsevier Inc.

  7. Biomedical risk, psychosocial influences, and developmental outcomes : Lessons from the pediatric HIV population in Africa

    NARCIS (Netherlands)

    Ali, A.A.

    2014-01-01

    Sub-Saharan Africa is home to millions of HIV-affected children. These children are likely to experience multiple developmental delays. In this chapter, I present data highlighting compromised neurobehavioral, mental health, and scholastic outcomes for children affected by HIV. Furthermore, I

  8. Biomedical Risk, Psychosocial Influences, and Developmental Outcomes: Lessons from the Pediatric HIV Population in Africa

    Science.gov (United States)

    Serpell, Robert; Marfo, Kofi; Abubakar, Amina

    2014-01-01

    Sub-Saharan Africa is home to millions of HIV-affected children. These children are likely to experience multiple developmental delays. In this chapter, I present data highlighting compromised neurobehavioral, mental health, and scholastic outcomes for children affected by HIV. Furthermore, I discuss biomedical factors (e.g., disease severity and…

  9. Ergodic Interference Alignment with Delayed Feedback

    OpenAIRE

    Kang, Myung Gil; Choi, Wan

    2013-01-01

    We propose new ergodic interference alignment techniques for $K$-user interference channels with delayed feedback. Two delayed feedback scenarios are considered -- delayed channel information at transmitter (CIT) and delayed output feedback. It is proved that the proposed techniques achieve total $2K/(K+2)$ DoF which is higher than that by the retrospective interference alignment for the delayed feedback scenarios.

  10. Developmental Origins of Obesity: Programmed Adipogenesis

    OpenAIRE

    Desai, Mina; Beall, Marie; Ross, Michael G.

    2013-01-01

    The metabolic syndrome epidemic, including a marked increase in the prevalence of obesity and gestational diabetes mellitus (GDM) among pregnant women, represents a significant public health problem. There is increasing recognition that the risk of adult obesity is clearly influenced by prenatal and infant environmental exposures, particularly nutrition. This tenet is the fundamental basis of developmental programming. Low birth weight, together with infant catch-up growth, is associated with...

  11. Exposure to mercuric chloride induces developmental damage, oxidative stress and immunotoxicity in zebrafish embryos-larvae.

    Science.gov (United States)

    Zhang, Qun-Fang; Li, Ying-Wen; Liu, Zhi-Hao; Chen, Qi-Liang

    2016-12-01

    Mercury (Hg) is a widespread environmental pollutant that can produce severe negative effects on fish even at very low concentrations. However, the mechanisms underlying inorganic Hg-induced oxidative stress and immunotoxicity in the early development stage of fish still need to be clarified. In the present study, zebrafish (Danio rerio) embryos were exposed to different concentrations of Hg 2+ (0, 1, 4 and 16μg/L; added as mercuric chloride, HgCl 2 ) from 2h post-fertilization (hpf) to 168hpf. Developmental parameters and total Hg accumulation were monitored during the exposure period, and antioxidant status and the mRNA expression of genes related to the innate immune system were examined at 168hpf. The results showed that increasing Hg 2+ concentration and time significantly increased total Hg accumulation in zebrafish embryos-larvae. Exposure to 16μg/L Hg 2+ caused developmental damage, including increased mortality and malformation, decreased body length, and delayed hatching period. Meanwhile, HgCl 2 exposure (especially in the 16μg/L Hg 2+ group) induced oxidative stress affecting antioxidant enzyme (CAT, GST and GPX) activities, endogenous GSH and MDA contents, as well as the mRNA levels of genes (cat1, sod1, gstr, gpx1a, nrf2, keap1, hsp70 and mt) encoding antioxidant proteins. Moreover, the transcription levels of several representative genes (il-1β, il-8, il-10, tnfα2, lyz and c3) involved in innate immunity were up-regulated by HgCl 2 exposure, suggesting that inorganic Hg had the potential to induce immunotoxicity. Taken together, the present study provides evidence that waterborne HgCl 2 exposure can induce developmental impairment, oxidative stress and immunotoxicity in the early development stage of fish, which brings insights into the toxicity mechanisms of inorganic Hg in fish. Copyright © 2016 Elsevier B.V. All rights reserved.

  12. [Reliability and validity of warning signs checklist for screening psychological, behavioral and developmental problems of children].

    Science.gov (United States)

    Huang, X N; Zhang, Y; Feng, W W; Wang, H S; Cao, B; Zhang, B; Yang, Y F; Wang, H M; Zheng, Y; Jin, X M; Jia, M X; Zou, X B; Zhao, C X; Robert, J; Jing, Jin

    2017-06-02

    Objective: To evaluate the reliability and validity of warning signs checklist developed by the National Health and Family Planning Commission of the People's Republic of China (NHFPC), so as to determine the screening effectiveness of warning signs on developmental problems of early childhood. Method: Stratified random sampling method was used to assess the reliability and validity of checklist of warning sign and 2 110 children 0 to 6 years of age(1 513 low-risk subjects and 597 high-risk subjects) were recruited from 11 provinces of China. The reliability evaluation for the warning signs included the test-retest reliability and interrater reliability. With the use of Age and Stage Questionnaire (ASQ) and Gesell Development Diagnosis Scale (GESELL) as the criterion scales, criterion validity was assessed by determining the correlation and consistency between the screening results of warning signs and the criterion scales. Result: In terms of the warning signs, the screening positive rates at different ages ranged from 10.8%(21/141) to 26.2%(51/137). The median (interquartile) testing time for each subject was 1(0.6) minute. Both the test-retest reliability and interrater reliability of warning signs reached 0.7 or above, indicating that the stability was good. In terms of validity assessment, there was remarkable consistency between ASQ and warning signs, with the Kappa value of 0.63. With the use of GESELL as criterion, it was determined that the sensitivity of warning signs in children with suspected developmental delay was 82.2%, and the specificity was 77.7%. The overall Youden index was 0.6. Conclusion: The reliability and validity of warning signs checklist for screening early childhood developmental problems have met the basic requirements of psychological screening scales, with the characteristics of short testing time and easy operation. Thus, this warning signs checklist can be used for screening psychological and behavioral problems of early childhood

  13. Recognition of Infantile Spasms Is Often Delayed: The ASSIST Study.

    Science.gov (United States)

    Hussain, Shaun A; Lay, Johnson; Cheng, Emily; Weng, Julius; Sankar, Raman; Baca, Christine B

    2017-11-01

    To characterize and quantify diagnostic and treatment delay among children with infantile spasms, and to estimate the developmental impact of this delay. In this cohort study, we surveyed the parents of 100 patients with infantile spasms about their experiences with diagnosis and treatment, and ascertained medical and sociodemographic factors potentially related to care of these infants. We specifically determined the latency to first visit an "effective provider," defined as a provider who identified infantile spasms, and prescribed an appropriate first-line treatment, namely adrenocorticotropic hormone, corticosteroids, or vigabatrin. Time to the first visit to an effective provider was evaluated using Cox proportional hazards regression. The median time from the onset of infantile spasms to first visit with an effective provider was 24.5 days. Only 29% of patients were evaluated by an effective provider within 1 week of infantile spasms onset. The time to first effective provider visit was associated with parental language preference, but with no other sociodemographic characteristics. Parents' suspicions that "something is wrong" were often discounted by healthcare providers, and survey respondents frequently reported that pediatricians and neurologists were unfamiliar with infantile spasms. This study demonstrates that substantial delay (ie, >1 week) in appropriate care is common, and suggests that the poor awareness of infantile spasms among healthcare providers is at least partly responsible for preventable and potentially significant delays in treatment. Copyright © 2017 Elsevier Inc. All rights reserved.

  14. Fractional variational principles with delay

    International Nuclear Information System (INIS)

    Baleanu, Dumitru; Abdeljawad, Thabet Maaraba; Jarad, Fahd

    2008-01-01

    The fractional variational principles within Riemann-Liouville fractional derivatives in the presence of delay are analyzed. The corresponding Euler-Lagrange equations are obtained and one example is analyzed in detail

  15. Linear rotary optical delay lines

    Science.gov (United States)

    Guerboukha, Hichem; Qu, Hang; Skorobogatiy, Maksim

    2016-03-01

    We present a semi-analytical solution for the design of a high-speed rotary optical delay line that use a combination of two rotating curvilinear reflectors. We demonstrate that it is possible to design an infinite variety of the optical delay lines featuring linear dependence of the optical delay on the rotation angle. This is achieved via shape optimization of the rotating reflector surfaces. Moreover, a convenient spatial separation of the incoming and outgoing beams is possible. For the sake of example, we present blades that fit into a circle of 10cm diameter. Finally, a prototype of a rotary delay line is fabricated using CNC machining, and its optical properties are characterized.

  16. Attentional networks in developmental dyscalculia

    Directory of Open Access Journals (Sweden)

    Henik Avishai

    2010-01-01

    Full Text Available Abstract Background Very little is known about attention deficits in developmental dyscalculia, hence, this study was designed to provide the missing information. We examined attention abilities of participants suffering from developmental dyscalculia using the attention networks test - interactions. This test was designed to examine three different attention networks--executive function, orienting and alerting--and the interactions between them. Methods Fourteen university students that were diagnosed as suffering from developmental dyscalculia--intelligence and reading abilities in the normal range and no indication of attention-deficit hyperactivity disorder--and 14 matched controls were tested using the attention networks test - interactions. All participants were given preliminary tests to measure mathematical abilities, reading, attention and intelligence. Results The results revealed deficits in the alerting network--a larger alerting effect--and in the executive function networks--a larger congruity effect in developmental dyscalculia participants. The interaction between the alerting and executive function networks was also modulated by group. In addition, developmental dyscalculia participants were slower to respond in the non-cued conditions. Conclusions These results imply specific attentional deficits in pure developmental dyscalculia. Namely, those with developmental dyscalculia seem to be deficient in the executive function and alertness networks. They suffer from difficulty in recruiting attention, in addition to the deficits in numerical processing.

  17. Developmental dysplasia of the hip

    Directory of Open Access Journals (Sweden)

    Shahryar Noordin

    2010-10-01

    Full Text Available Developmental dysplasia of the hip (DDH is a spectrum of anatomical abnormalities of the hip joint in which the femoral head has an abnormal relationship with the acetabulum. Most studies report an incidence of 1 to 34 cases per 1,000 live births and differences could be due to different diagnostic methods and timing of evaluation. Risk factors include first born status, female sex, positive family history, breech presentation and oligohydramnios. Clinical presentations of DDH depend on the age of the child. Newborns present with hip instability, infants have limited hip abduction on examination, and older children and adolescents present with limping, joint pain, and/or osteoarthritis. Repeated, careful examination of all infants from birth and throughout the first year of life until the child begins walking is important to prevent late cases. Provocative testing includes the Barlow and Ortolani maneuvers. Other signs, such as shorting of the femur with hips and knees flexed (Galeazzi sign, asymmetry of the thigh or gluteal folds, and discrepancy of leg lengths are potential clues. Treatment depends on age at presentation and outcomes are much better when the child is treated early, particularly during the first six months of life.

  18. Developmental perspectives on nutrition and obesity from gestation to adolescence.

    Science.gov (United States)

    Esposito, Layla; Fisher, Jennifer O; Mennella, Julie A; Hoelscher, Deanna M; Huang, Terry T

    2009-07-01

    Obesity results from a complex combination of factors that act at many stages throughout a person's life. Therefore, examining childhood nutrition and obesity from a developmental perspective is warranted. A developmental perspective recognizes the cumulative effects of factors that contribute to eating behavior and obesity, including biological and socioenvironmental factors that are relevant at different stages of development. A developmental perspective considers family, school, and community context. During gestation, risk factors for obesity include maternal diet, overweight, and smoking. In early childhood, feeding practices, taste acquisition, and eating in the absence of hunger must be considered. As children become more independent during middle childhood and adolescence, school nutrition, food marketing, and social networks become focal points for obesity prevention or intervention. Combining a multilevel approach with a developmental perspective can inform more effective and sustainable strategies for obesity prevention.

  19. Denials and Delays of Radioactive Material Shipments

    International Nuclear Information System (INIS)

    El-Shinawy, R.M.K.

    2011-01-01

    delays of shipments of radioactive materials forms an important issue today. Radioactive materials need to be transported using all modes of transport for use in different applications such as public health, industry, research and production of nuclear power. The transport of radioactive materials is governed by national and international regulations, which are based on the International Atomic Energy Agency (IAEA) regulations for safe transport of radioactive materials (TS-R-1). These regulations ensure high standards of safety. Recently there were increasing numbers of instances of denials and delays of shipments of radioactive materials even when complying with the regulations. The denials and delays can result in difficulties to patients and others who rely on products sterilized by radiation. Therefore there is an urgent need for a universally accepted approach to solve this problem. In response, the IAEA has formed an International Steering Committee (ISC) on denials and delays of radioactive materials. Also, it designate the National Focal Points (NFP) representative to help the ISC members and the IAEA by informing about denial operations and how they can help. The Steering Committee developed and adopted an action plan which includes the action to be taken. This plan is based on: Awareness, Training, Communication, Lobbying for marketing, Economic and Harmonization among member states. It is important to work within the mandate of the ISC and in the line of action plan on denials and delays. It identified the following network members such as: National Focal Points, Regional Coordinators, National Committee, National Representative for different modes of transport and similar bodies, Carriers, Producers and Suppliers, Different civil societies, NGO's, Ministry of transport and others.

  20. Systematics in delayed neutron yields

    Energy Technology Data Exchange (ETDEWEB)

    Ohsawa, Takaaki [Kinki Univ., Higashi-Osaka, Osaka (Japan). Atomic Energy Research Inst.

    1998-03-01

    An attempt was made to reproduce the systematic trend observed in the delayed neutron yields for actinides on the basis of the five-Gaussian representation of the fission yield together with available data sets for delayed neutron emission probability. It was found that systematic decrease in DNY for heavier actinides is mainly due to decrease of fission yields of precursors in the lighter side of the light fragment region. (author)