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Sample records for suspected developmental delay

  1. Developmental delay

    Nutrition support is essential for the care of the child with developmental delay. After a thorough evaluation, an individualized intervention plan that accounts for the child’s nutrition status, feeding ability, and medical condition may be determined. Nutrition assessments may be performed at leas...

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

    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.

  3. Strength training for a child with suspected developmental coordination disorder.

    Menz, Stacy M; Hatten, Kristin; Grant-Beuttler, Marybeth

    2013-01-01

    Children with developmental coordination disorder (DCD) demonstrate difficulty with feedforward motor control and use varied compensatory strategies. To examine gross motor function changes following strength training in a child with motor control difficulties. A girl aged 6 years 11 months, with apraxia and hypotonia, and demonstrating motor delays consistent with DCD. Twenty-four strength training sessions were completed using a universal exercise unit. Postintervention scores significantly improved on the Bruininks-Oseretsky test of motor proficiency, second edition, and the Canadian occupational performance measure scores and raised the developmental coordination disorder questionnaire, revised 2007, scores above the range where DCD is suspected. Nonsignificant changes in strength were observed. Improved function and significant gains in manual coordination were observed following blocked practice of isolated, simple joint movements during strength training. Improved motor skills may be because of effective use of feedforward control and improved stabilization. Strength training does not rehearse skills using momentum, explaining nonsignificant changes in locomotor or locomotion areas.

  4. Maternal Obesity: Risks for Developmental Delays in Early Childhood.

    Duffany, Kathleen O'Connor; McVeigh, Katharine H; Kershaw, Trace S; Lipkind, Heather S; Ickovics, Jeannette R

    2016-02-01

    To assess the risk for neurodevelopmental delays for children of mothers who were obese (≥200 pounds) prior to pregnancy, and to characterize delays associated with maternal obesity among children referred to and found eligible to receive Early Intervention Program services. We conducted a retrospective cohort study (N = 541,816) using a population-based New York City data warehouse with linked birth and Early Intervention data. Risks for children suspected of a delay and 'significantly delayed', with two moderate or one severe delay, were calculated. Among the group of children eligible by delay for Early Intervention, analyses assessed risk for being identified with a moderate-to-severe delay across each of five functional domains as well as risks for multiple delays. Children of mothers who were obese were more likely to be suspected of a delay (adjusted RR 1.19 [CI 1.15-1.22]) and borderline association for 'significantly delayed' (adjusted RR 1.01 [CI 1.00-1.02). Among children eligible by delay, children of mothers who were obese evidenced an increased risk for moderate-to-severe cognitive (adjusted RR 1.04 [CI 1.02-1.07]) and physical (adjusted RR 1.04 [CI 1.01-1.08]) delays and for global developmental delay (adjusted RR 1.05 [CI 1.01-1.08]). Maternal obesity is associated with increased risk of developmental delay in offspring. Among children with moderate or severe delays, maternal obesity is associated with increased risk of cognitive and physical delays as well as with increased risk for global developmental delay. While causation remains uncertain, this adds to the growing body of research reporting an association between maternal obesity and neurodevelopmental delays in offspring.

  5. Delaying Developmental Mathematics: The Characteristics and Costs

    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. Risk factors of ophthalmic disorders in children with developmental delay

    Sandfeld, L.N.; Jensen, H.; Skov, L.

    2008-01-01

    PURPOSE: To identify diagnoses that increase the risk of ophthalmic disorders in developmentally delayed children. METHODS: A cross-sectional study of 1126 Danish children with developmental delay (IQ Udgivelsesdato: 2008/12......PURPOSE: To identify diagnoses that increase the risk of ophthalmic disorders in developmentally delayed children. METHODS: A cross-sectional study of 1126 Danish children with developmental delay (IQ Udgivelsesdato: 2008/12...

  7. OCULAR DISORDERS IN CHILDREN WITH DEVELOPMENTAL DELAY

    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

  8. Brain MR imaging in children with psychomotor developmental delay

    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).

  9. Brain MR imaging in children with psychomotor developmental delay

    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)

  10. Menstrual management in developmentally delayed adolescent females.

    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.

  11. Toddler Developmental Delays After Extensive Hospitalization: Primary Care Practitioner Guidelines.

    Lehner, Dana C; Sadler, Lois S

    2015-01-01

    This review investigated developmental delays toddlers may encounter after a lengthy pediatric hospitalization (30 days or greater). Physical, motor, cognitive, and psychosocial development of children aged 1 to 3 years was reviewed to raise awareness of factors associated with developmental delay after extensive hospitalization. Findings from the literature suggest that neonatal and pediatric intensive care unit (NICU/PICU) graduates are most at risk for developmental delays, but even non-critical hospital stays interrupt development to some extent. Primary care practitioners (PCPs) may be able to minimize risk for delays through the use of formal developmental screening tests and parent report surveys. References and resources are described for developmental assessment to help clinicians recognize delays and to educate families about optimal toddler development interventions. Pediatric PCPs play a leading role in coordinating health and developmental services for the young child following an extensive hospital stay.

  12. Smart Toys Designed for Detecting Developmental Delays.

    Rivera, Diego; García, Antonio; Alarcos, Bernardo; Velasco, Juan R; Ortega, José Eugenio; Martínez-Yelmo, Isaías

    2016-11-20

    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.

  13. Visual Abilities in Children with Developmental Delay

    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...

  14. Smart Toys Designed for Detecting Developmental Delays

    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.

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

    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.

  16. Parenting Children with Developmental Delays: The Role of Positive Beliefs

    PACZKOWSKI, EMILIE; BAKER, BRUCE L.

    2008-01-01

    Parents of children with developmental delays consistently report higher levels of child behavior problems and also parenting stress than parents of typically developing children. This study examined how mothers' positive beliefs influence the relation between children's behavior problems and mothers' parenting stress among families of children who are developmentally delayed (DD: n = 72) or typically developing (TD: n = 95) and assessed at ages 3, 5, and 7 years. Positive beliefs had a main ...

  17. Promoting Healthy Weight among Children with Developmental Delays

    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…

  18. Clinical profile of children with developmental delay and microcephaly

    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

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

    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: ...

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

    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. Behavior Problems in Toddlers with and without Developmental Delays: Comparison of Treatment Outcomes

    Holtz, Casey A.; Carrasco, Jennifer M.; Mattek, Ryan J.; Fox, Robert A.

    2009-01-01

    The purpose of this study is to examine the effectiveness of an in-home parent management program for toddlers with behavior problems and developmental delays by comparing outcomes for a group of toddlers with developmental delays (n = 27) and a group of toddlers without developmental delays (n = 27). The majority of children lived in single…

  2. Brain Magnetic Resonance Imaging Findings in Developmentally Delayed Children

    Ali Akbar Momen

    2011-01-01

    Full Text Available Background. Developmental disorders are failure or inability to acquire various age-specific skills at expected maturational age, which affects about 5–10% of preschool children. One of the most important methods for evaluation of developmentally delayed children is neuroimaging, especially, brain magnetic resonance imaging (MRI that provides useful information regarding brain tissue structures and anomalies. Method and Material. In this study, hospital records of 580 developmentally delayed children (aged 2 months to 15 years who admitted in pediatric ward of Golestan Hospital from 1997 to 2009 were selected. Information such as age, MRI findings were collected in the questionnaire and statistically analyzed. Results. Total, 580 children including 333 males (57.4% and 247 females (42.6% were studied. Abnormal brain MRI was observed in 340 (58.6% cases (204 Males, 136 females. The finding includes nonspecific in 38 (6.6%, congenital and developmental anomalies of brain in 39 (6.7%, recognizable syndromes in 3 (0.5%, neurovascular diseases or trauma in 218 (37.6%, and metabolic or neurodegenerative diseases in 42 (7.2% cases. Conclusion. Because 60% of all study groups showed abnormal brain MRI, using this method could be effective in diagnosis, management, and almost prognosis determination processes.

  3. Impact of delay in clinical presentation on the diagnostic management and prognosis of patients with suspected pulmonary embolism

    Den Exter, Paul L.; Van Es, Josien; Erkens, Petra M.G.; Van Roosmalen, Mark J.G.; Van Den Hoven, Pim; Hovens, Marcel M.C.; Kamphuisen, Pieter W.; Klok, Frederikus A.; Huisman, Menno V.

    2013-01-01

    Rationale: The nonspecific clinical presentation of pulmonary embolism (PE) frequently leads to delay in its diagnosis. Objectives: This study aimed to assess the impact of delay in presentation on the diagnostic management and clinical outcome of patients with suspected PE. Methods: In 4,044

  4. Impact of delay in clinical presentation on the diagnostic management and prognosis of patients with suspected pulmonary embolism

    Den Exter, P. L.; Van Es, J.; Erkens, P. G. M.; Roosmalen, M.; Hoven, P.; Hovens, M.; Kamphuisen, P. W.; Klok, F. A.; Huisman, M.

    Background: The non-specific clinical presentation of pulmonary embolism (PE) frequently leads to delay in its diagnosis. Aims: To assess the impact of delay in presentation on the diagnostic management and clinical outcome of patients with suspected PE. Methods: For this post-hoc analysis, we used

  5. Significant Sleep Dysregulation in a Toddler With Developmental Delay.

    Stein, Martin T; Owens, Judith; Abbott, Myles

    Derrick's parents made an appointment with a new pediatrician for a second opinion about disordered sleep. Now 22-months old, he was evaluated at 18 months of age for developmental delay when he was found to have "a regulatory disorder associated with delays in language and motor development, hypotonia and significant sleep problems." The parents are now most concerned about his sleeping pattern. Prolonged sleep onset and frequent night awaking occur each night since 6-months of age. These problems are more severe in the past few months when he awakes screaming and cannot be settled. The awakening episodes occur 2 to 4 times each night when "he screams and thrashes his body for up to an hour." Daytime tantrums increased. After the parents read a book about sleep in young children, they provided a calm atmosphere at bedtime including a dark room and singing a quiet lullaby. When these changes did not alter sleep, they purchased a vibrating mattress which was also unsuccessful.Derrick was born full term after an uncomplicated prenatal and perinatal course. He sat at 10 months, crawled at 12 months, and walked at 18 months. He currently drinks from a sippy cup and he can use a utensil to eat. He has few words saying only "no" and "mama" in the past month. Imitation of some words occurred recently. He has responded to simple directions in the past 2 months. Derrick passed the newborn audiology screen. He does not have difficulty swallowing and he does not drool. He plays with many different toys and he plays in parallel with his older brother who also experienced delays in motor and language development. His brother is now doing very well in school. There is no family history of cognitive delay, seizure disorder, cerebral palsy, early developmental delay (other than the brother) or a significant sleep problem. PHYSICAL EXAMINATION:: head circumference, length and weight (75th percentile). He had mild generalized hypotonia, mild weakness, 2+ symmetrical deep tendon

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

    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...

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

    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.

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

    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…

  9. Neonatal Morbidities and Developmental Delay in Moderately Preterm-Born Children

    Kerstjens, J.M.; Bocca-Tjeertes, I.F.; de Winter, A.F.; Reijneveld, S.A.; Bos, A.F.

    BACKGROUND AND OBJECTIVE: Children born moderately preterm (32-35(6/7) weeks' gestation) are at increased risk of both neonatal morbidities and developmental delays in early childhood. It is unknown whether neonatal morbidities contribute to the increased risk of developmental delay. The objective

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

    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

  11. Developmental delays in emotion regulation strategies in preschoolers with autism.

    Nuske, Heather J; Hedley, Darren; Woollacott, Alexandra; Thomson, Phoebe; Macari, Suzanne; Dissanayake, Cheryl

    2017-11-01

    Children with autism spectrum disorder (ASD) commonly present with difficulty regulating negative emotions, which has been found to impact their behavioral and mental health. Little research has documented the strategies that children with ASD use to regulate their emotion to understand whether they use qualitatively different strategies to children without ASD, whether these are developmentally delayed, or both. Forty-four children with ASD and 29 typically-developing children (2-4 years) were given tasks designed to mimic everyday life experiences requiring children to manage low-level stress (e.g., waiting for a snack) and children's emotion regulation strategies were coded. Parents reported on their child's mental health, wellbeing, and self-development. The results suggest differences in using emotion regulation strategies in children with ASD, reflecting a delay, rather than a deviance when compared to those used by children without ASD. Only children with ASD relied on their family members for physical and communicative soothing; the typically developing children relied on people outside of their family for help regulating their emotion. More frequent approach/less frequent avoidance was related to a higher self-evaluation in both groups, but was only additionally related to higher self-recognition and autonomy in the ASD group. These findings help to identify important emotion regulation intervention targets for this population, including supporting communication with people outside of the family and independence. Autism Res 2017, 10: 1808-1822. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Results suggest that children with autism had more difficulty using communication strategies to manage stress only with people outside the family; they used these strategies with family members as often as children without autism. For all children, more task approach/less avoidance was related to children's higher self-evaluation. These

  12. Self-Recognition in Young Children Using Delayed versus Live Feedback: Evidence of a Developmental Asynchrony.

    Povinelli, Daniel J.; And Others

    1996-01-01

    Investigated the ability of young children to recognize themselves in delayed videotapes and recent photographs. Results suggested a significant developmental delay in young children's success on mark tests of self-recognition using delayed feedback as compared to live feedback, which may have important implications for characterizing the…

  13. Impact of delay in clinical presentation on the diagnostic management and prognosis of patients with suspected pulmonary embolism.

    den Exter, Paul L; van Es, Josien; Erkens, Petra M G; van Roosmalen, Mark J G; van den Hoven, Pim; Hovens, Marcel M C; Kamphuisen, Pieter W; Klok, Frederikus A; Huisman, Menno V

    2013-06-15

    The nonspecific clinical presentation of pulmonary embolism (PE) frequently leads to delay in its diagnosis. This study aimed to assess the impact of delay in presentation on the diagnostic management and clinical outcome of patients with suspected PE. In 4,044 consecutive patients with suspected PE, patients presenting more than 7 days from the onset of symptoms were contrasted with those presenting within 7 days as regards the safety of excluding PE on the basis of a clinical decision rule combined with D-dimer testing. Patients were followed for 3 months to assess the rates of recurrent venous thromboembolism and mortality. A delayed presentation (presentation >7 d) was present in 754 (18.6%) of the patients. The failure rate of an unlikely clinical probability and normal D-dimer test was 0.5% (95% confidence interval [CI], 0.01-2.7) for patients with and 0.5% (95% CI, 0.2-1.2) for those without diagnostic delay. D-dimer testing yielded a sensitivity of 99% (95% CI, 96-99%) and 98% (95% CI, 97-99%) in these groups, respectively. Patients with PE with diagnostic delay more frequently had centrally located PE (41% vs. 26%; P presentation. PE can be safely excluded based on a clinical decision rule and D-dimer testing in patients with a delayed clinical presentation. A delayed presentation for patients who survived acute PE was associated with a more central PE location, although this did not affect the clinical outcome at 3 months.

  14. CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays

    Windpassinger, Christian; Piard, Juliette; Bonnard, Carine; Alfadhel, Majid; Lim, Shuhui; Bisteau, Xavier; Blouin, Stéphane; Ali, Nur'Ain B; Ng, Alvin Yu Jin; Lu, Hao; Tohari, Sumanty; Talib, S Zakiah A; van Hul, Noémi; Caldez, Matias J; Van Maldergem, Lionel; Yigit, Gökhan; Kayserili, Hülya; Youssef, Sameh A; Coppola, Vincenzo; de Bruin, Alain; Tessarollo, Lino; Choi, Hyungwon; Rupp, Verena; Roetzer, Katharina; Roschger, Paul; Klaushofer, Klaus; Altmüller, Janine; Roy, Sudipto; Venkatesh, Byrappa; Ganger, Rudolf; Grill, Franz; Ben Chehida, Farid; Wollnik, Bernd; Altunoglu, Umut; Al Kaissi, Ali; Reversade, Bruno; Kaldis, Philipp

    2017-01-01

    In five separate families, we identified nine individuals affected by a previously unidentified syndrome characterized by growth retardation, spine malformation, facial dysmorphisms, and developmental delays. Using homozygosity mapping, array CGH, and exome sequencing, we uncovered bi-allelic

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

    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…

  16. Correlation Between Mothers' Depression and Developmental Delay in Infants Aged 6-18 Months.

    Vameghi, Roshanak; Amir Ali Akbari, Sedigheh; Sajjadi, Homeira; Sajedi, Firoozeh; Alavimajd, Hamid

    2015-08-23

    Regarding the importance of children's developmental status and various factors that delay their development, this study was conducted to examine the correlation between mothers' depression levels and the developmental delay in infants. This descriptive study was performed on 1053 mothers and their infants' age 6 to18 month-old in medical centers affiliated with Shahid Beheshti University of Medical Sciences, Iran, in 2014-2015. The participants were selected through multi-stage random sampling. The following instruments were used in this study: A demographic and obstetric specification questionnaire, infant specification questionnaire, the Beck Depression Inventory, and the Ages and Stages Questionnaire to determine the status of the children's development. The data were analyzed using SPSS19 software, Mann-Whitney; independent T-test and logistic-Regression tests were used. The results showed that 491 mothers (46.7%) suffered mild to extremely severe depression. The delay in infant development was 11.8%. The Mann-Whitney test showed a correlation between mothers' depression levels and developmental delay in infants (P=0.001). Moreover, there was a significant correlation between mothers' depression and developmental delays in gross-motor and problem-solving skills (Pmothers' depression and infant development, it is recommended to screen mothers for depression in order to perform early interventions in developmental delay.

  17. Predictors of severity and outcome of global developmental delay without definitive etiologic yield: a prospective observational study

    Thomaidis, Loretta; Zantopoulos, Georgios Zacharias; Fouzas, Sotirios; Mantagou, Lito; Bakoula, Chryssa; Konstantopoulos, Andreas

    2014-01-01

    Background Although several determinants of global developmental delay (GDD) have been recognized, a significant number of children remain without definitive etiologic diagnosis. The objective of this study was to assess the effect of various prenatal and perinatal factors on the severity and outcome of developmental delay without definitive etiologic yield. Methods From March 2008 to February 2010, 142 children with developmental quotient (DQ)

  18. Youth Assets and Delayed Coitarche across Developmental Age Groups

    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,…

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

    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

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

    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

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

    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......, 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...... 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 (pchildren had developmental scores below-2 SD. The R-PDQ score was associated with the ASQ score 2 y later. CONCLUSION: A structured questionnaire administrated...

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

    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.

  3. Delayed processing of global shape information in developmental prosopagnosia

    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...

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

    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.

  5. Measuring functional developmental delay in infants and young children: prevalence rates from the NHIS-D.

    Simpson, Gloria A; Colpe, Lisa; Greenspan, Stanley

    2003-01-01

    In order to measure the prevalence of developmental delay among US infants and children, two types of questions were asked of parents in the 1994-95 National Health Interview Survey on Disability (NHIS-D). To measure functional delay (FD), questions from the Functional Developmental Growth Chart (FDQ), which measures specific age-appropriate tasks, were used. General delay (GD) was defined using the general type of questions about developmental delay that had been used in previous surveys. Using a nationally representative sample of 15 291 infants and children aged 4-59 months from the NHIS-D, analyses revealed that, according to these questions, approximately 3.3% had FD and 3.4% of the children had GD. However, only one-third of the children were identified by both sets of questions. Thus, two-thirds of the children identified as having FD were not recognised by their parents as having a delay. Conversely, many parents responded to the GD questions indicating that their child had a delay, but failed to indicate that their child had a functional problem. In addition, only 17% of the children with FD and 31% of those with GD were receiving special services. Multivariable logistic regression analyses found that children with both FD and GD were more likely to be male and to be living in families with incomes below 200% of the poverty level. The findings suggest that the general types of developmental delay questions used in national surveys may not identify children with functional delays. As parents failed to identify these children, it is possible that many of these children may be slipping through paediatric surveillance. Further research to evaluate the use of these measures in population surveys is recommended.

  6. Similarities and dissimilarities between the movement ABC-2 and the Zurich neuromotor assessment in children with suspected developmental coordination disorder.

    Kakebeeke, Tanja H; Egloff, Kristin; Caflisch, Jon; Chaouch, Aziz; Rousson, Valentin; Largo, Remo H; Jenni, Oskar G

    2014-11-01

    An established tool for the assessment of motor performance in children with developmental coordination disorder (DCD) is the Movement-ABC-2 (M-ABC-2). The Zurich Neuromotor Assessment (ZNA) is also widely used for the evaluation of children's motor performance, but has not been compared with the M-ABC-2. Fifty-one children (39 males) between 5 and 7 years of age with suspected DCD were assessed using the M-ABC-2 and the ZNA. Rank correlations between scores of different test components were calculated. The structure of the tests was explored using canonical-correlation analysis. The correlation between total scores of the two motor tests was reasonable (0.66; pABC-2, due to poor performance in the fine motor adaptive component and increased contralateral associated movements (CAM). The canonical-correlation analysis revealed that ZNA measures components like pure motor skills and CAM that are not represented in the M-ABC-2. Furthermore, there was also no equivalent for the aiming and catching items of the M-ABC-2 in ZNA. The two tests measure different motor characteristics in children with suspected DCD and, thus, can be used complementary for the diagnosis of the disorder. Copyright © 2014. Published by Elsevier Ltd.

  7. Delayed processing of global shape information in developmental prosopagnosia

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

    2017-01-01

    individuals with DP in Navon’s paradigm we find evidence of a reduced global precedence effect: The DPs are slower than controls to process global but not local shape information. Importantly, and in contrast to previous studies, we demonstrate that the DPs perform normally in a comprehensive test of visual......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...... individuals with DP show a greater local or reduced global bias compared with controls. However, it has not been established what gives rise to this altered processing bias. Is it a reduced global precedence effect, changes in susceptibility to interference effects or both? By analyzing the performance of 10...

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

    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

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

    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

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

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

    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. The Negative Effects of Positive Reinforcement in Teaching Children with Developmental Delay.

    Biederman, Gerald B.; And Others

    1994-01-01

    This study compared the performance of 12 children (ages 4 to 10) with developmental delay, each trained in 2 tasks, one through interactive modeling (with or without verbal reinforcement) and the other through passive modeling. Results showed that passive modeling produced better rated performance than interactive modeling and that verbal…

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

    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…

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

    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…

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

    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…

  15. Motor Skill Interventions to Improve Fundamental Movement Skills of Preschoolers with Developmental Delay

    Kirk, Megan A.; Rhodes, Ryan E.

    2011-01-01

    Preschoolers with developmental delay (DD) are at risk for poor fundamental movement skills (FMS), but a paucity of early FMS interventions exist. The purpose of this review was to critically appraise the existing interventions to establish direction for future trials targeting preschoolers with DD. A total of 11 studies met the inclusion…

  16. The Role of Maternal Depression in Accessing Early Intervention Services for Children with Developmental Delay

    Colgan, Siobhan Eileen

    2012-01-01

    This study investigated the relationship between maternal depression and children's access to early intervention services among a sample of children with developmental delay at age two who were determined to be eligible for early intervention services, were full term and of normal birth weight, and were not previously identified with any special…

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

    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.

  18. Plantar lipomatosis, unusual facies, and developmental delay : Confirmation of Pierpont syndrome

    Oudesluijs, GG; Hordijk, R; Boon, M; Sijens, PE; Hennekam, RCM

    2005-01-01

    In 1998, Pierpont et al. reported on two unrelated boys with plantar lipomatosis, unusual facial phenotype, and developmental delay as a possible new MR/MCA syndrome. Here we report on a 2-year-old boy with similar manifestations: axial hypotonia in the first few months, prolonged feeding problems,

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

    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...

  20. Maternal and pregnancy-related factors associated with developmental delay in moderately preterm-born children

    Kerstjens, Jorien M; de Winter, Andrea F; Sollie, Krystyna M; Bocca-Tjeertes, Inger F; Potijk, Marieke R; Reijneveld, Sijmen A; Bos, Arend F

    OBJECTIVE: To estimate the association between preexisting maternal and pregnancy-related factors and developmental delay in early childhood in moderately preterm-born children. METHODS: We measured development with the Ages and Stages Questionnaire at age 43-49 months in 834 moderately preterm-born

  1. Delayed-enhancement magnetic resonance imaging in patients with clinically suspected stress cardiomyopathy (Tako-Tsubo)

    Muellerleile, K.; Sultan, A.; Willems, S.; Lund, G.; Groth, M.; Adam, G.; Barmeyer, A.; Meinertz, T.; Koester, R.; Heitzer, T.

    2010-01-01

    To compare the ability of delayed-enhancement magnetic resonance imaging (DE-MRI) and other MRI and clinical parameters to identify diseases mimicking stress cardiomyopathy (SCM). The study included 14 consecutive patients fulfilling the American Heart Association (AHA) criteria for SCM with acute left ventricular dysfunction in the absence of coronary artery disease, triggered by psychological stress. The MRI protocol consisted of cine, T 2-weighted, first-pass-perfusion (FPP) and DE-MRI. Six patients with DE were classified as mimicking SCM (non-SCM) and 8 patients without DE as SCM. FPP defects were found in 4 patients with non-SCM and in none with SCM (p < 0.05). Myocardial edema was found in 5 patients with non-SCM and in 2 patients with SCM (p = ns). No significant differences in clinical findings such as ECG, cardiac markers and echocardiographic recovery of left ventricular function were found between patients with non-SCM and SCM. Non-SCM defined by DE-MRI is a frequent finding in patients fulfilling the AHA criteria for SCM. Clinical findings seem to be of limited value to differentiate between non-SCM and SCM. (orig.)

  2. A Mobile Early Stimulation Program to Support Children with Developmental Delays in Brazil.

    Dias, Raquel da Luz; Silva, Kátia Cristina Correa Guimarães; Lima, Marcela Raquel de Oliveira; Alves, João Guilherme Bezerra; Abidi, Syed Sibte Raza

    2018-01-01

    Developmental delay is a deviation development from the normative milestones during the childhood and it may be caused by neurological disorders. Early stimulation is a standardized and simple technique to treat developmental delays in children (aged 0-3 years), allowing them to reach the best development possible and to mitigate neuropsychomotor sequelae. However, the outcomes of the treatment depending on the involvement of the family, to continue the activities at home on a daily basis. To empower and educate parents of children with neurodevelopmental delays to administer standardized early stimulation programs at home, we developed a mobile early stimulation program that provides timely and evidence-based clinical decision support to health professionals and a personalized guidance to parents about how to administer early stimulation to their child at home.

  3. Acoustic and Perceptual Correlates of Stress in Nonwords Produced by Children with Suspected Developmental Apraxia of Speech and Children with Phonological Disorder.

    Munson, Benjamin; Bjorum, Elissa M.; Windsor, Jennifer

    2003-01-01

    This study examined whether accuracy in producing linguistic stress reliably distinguished between five children with suspected developmental apraxia of speech (sDAS) and five children with phonological disorder (PD). No group differences in the production of stress were found; however, listeners judged that nonword repetitions of the children…

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

    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.

  5. Scheduling delay in suspected cases of oral cancer Atraso de agendamento em casos suspeitos de câncer bucal

    Luciana Meneses Souza

    2011-12-01

    Full Text Available The objective of the study was to evaluate scheduling delay of dental exams in the city of São Paulo of patients suspected of having oral cancer. A cross-sectional study was performed in which telephone conversations simulated clinical situations that represented two types of patients: one presenting symptoms suggestive of oral cancer (CA, and another one suggesting the need for prostheses (PR. The scheduling delay was evaluated by the days until an appointment for care; and among public offices, by type of schedule (emergency or routine. Negative binomial regression was used (95% statistical significance. Five hundred and seventy-five public and private dental offices participated in the study. The mean scheduling delay for the CA group was 2.88 days, and for the PR group, 4.34 days (p = 0.01. The mean scheduling delay was shorter in private dental offices (2.59 days than in offices that accepted health insurance (2.74 days (p = 0.01; the delay was shorter when performed by the dentist rather than by the dental assistant, 2.45 versus 4.21 days (p = 0.01. In public services, 69% of patients in the cancer group were sent to the emergency service. Dental services were accessible for scheduling clinical examinations among patients suspected of having oral cancer.O objetivo do estudo foi avaliar o atraso de agendamento de pacientes com suspeita de câncer bucal aos exames odontológicos na cidade de São Paulo. Realizou-se estudo transversal, em que conversações telefônicas simularam situações clínicas, representando dois tipos de pacientes-padrão: um com sintomas sugestivos de câncer bucal e outro com necessidade de prótese. O atraso do agendamento foi avaliado pelo tempo de agendamento para a consulta e, no caso de estabelecimentos públicos, pelo tipo de agendamento (rotina ou urgência. Utilizou-se regressão binomial negativa (95% de nível de significância. Participaram do estudo 575 estabelecimentos públicos e privados. O tempo m

  6. Intranasal insulin to improve developmental delay in children with 22q13 deletion syndrome: an exploratory clinical trial

    Schmidt, Heinrich; Giese, Renate; Enders, Angelika; Kern, W.; Hallschmid, M.

    2009-01-01

    Background: The 22q13 deletion syndrome (Phelan– McDermid syndrome) is characterised by a global developmental delay, absent or delayed speech, generalised hypotonia, autistic behaviour and characteristic phenotypic features. Intranasal insulin has been shown to improve declarative memory in healthy adult subjects and in patients with Alzheimer disease. Aims: To assess if intranasal insulin is also able to improve the developmental delay in children with 22q13 delet...

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

    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.

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

    Kumar, Saurabh; Pai, Deepika; Saran, Runki

    2017-01-01

    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.

  9. Facilitating relational framing in children and individuals with developmental delay using the relational completion procedure.

    Walsh, Sinead; Horgan, Jennifer; May, Richard J; Dymond, Simon; Whelan, Robert

    2014-01-01

    The Relational Completion Procedure is effective for establishing same, opposite and comparative derived relations in verbally able adults, but to date it has not been used to establish relational frames in young children or those with developmental delay. In Experiment 1, the Relational Completion Procedure was used with the goal of establishing two 3-member sameness networks in nine individuals with Autism Spectrum Disorder (eight with language delay). A multiple exemplar intervention was employed to facilitate derived relational responding when required. Seven of nine participants in Experiment 1 passed tests for derived relations. In Experiment 2, eight participants (all of whom, except one, had a verbal repertoire) were given training with the aim of establishing two 4-member sameness networks. Three of these participants were typically developing young children aged between 5 and 6 years old, all of whom demonstrated derived relations, as did four of the five participants with developmental delay. These data demonstrate that it is possible to reliably establish derived relations in young children and those with developmental delay using an automated procedure. © Society for the Experimental Analysis of Behavior.

  10. Delayed contrast-enhanced computed tomography in patients with known or suspected cardiac sarcoidosis: A feasibility study

    Aikawa, Tadao; Naya, Masanao; Obara, Masahiko [Hokkaido University Graduate School of Medicine, Sapporo (Japan); Oyama-Manabe, Noriko; Kudo, Kohsuke [Hokkaido University Hospital, Department of Diagnostic and Interventional Radiology, Sapporo (Japan); Ohira, Hiroshi; Sugimoto, Ayako; Tsujino, Ichizo [Hokkaido University Graduate School of Medicine, First Department of Medicine, Sapporo (Japan); Manabe, Osamu; Tamaki, Nagara [Hokkaido University Graduate School of Medicine, Department of Nuclear Medicine, Sapporo (Japan); Tsutsui, Hiroyuki [Kyushu University, Department of Cardiovascular Medicine, Fukuoka (Japan)

    2017-10-15

    To evaluate the diagnostic value of delayed contrast-enhanced computed tomography (DE-CT) for cardiac sarcoidosis (CS) in patients with or without implantable devices, including a quantitative comparison with late gadolinium enhancement cardiac magnetic resonance (LGE-CMR). Twenty-four patients (mean age, 64 ± 9 years; 17 women) with known or suspected CS underwent retrospective electrocardiogram-gated DE-CT at 80 kV with knowledge-based iterative model reconstruction. Fourteen patients without implantable devices also underwent LGE-CMR, while ten with pacemakers or implantable cardioverter-defibrillators did not. The presence of hyperenhanced myocardium was assessed visually and quantitatively using a 5-standard deviation threshold above the mean of remote myocardium. Inter-observer agreement for visual detection of hyperenhanced segments on DE-CT was excellent in patients with implantable devices and in those without (κ = 0.91 and κ = 0.94, respectively). Comparisons of the percent area of hyperenhanced myocardium between DE-CT and LGE-CMR on both per-patient and per-segment analyses showed good correlations (r = 0.96 and r = 0.83, respectively; p < 0.001). The sensitivity and specificity of DE-CT for the diagnosis of CS were 94% and 33%. The extent of hyperenhanced lesion with DE-CT showed good agreement with LGE-CMR results. DE-CT showed high sensitivity for detecting CS and may be useful particularly in patients with contraindications to CMR. (orig.)

  11. Music-based Autism Diagnostics (MUSAD) - A newly developed diagnostic measure for adults with intellectual developmental disabilities suspected of autism.

    Bergmann, Thomas; Sappok, Tanja; Diefenbacher, Albert; Dames, Sibylle; Heinrich, Manuel; Ziegler, Matthias; Dziobek, Isabel

    2015-01-01

    The MUSAD was developed as a diagnostic observational instrument in an interactional music framework. It is based on the ICD-10/DSM-5 criteria for autism spectrum disorder (ASD) and was designed to assess adults on a lower level of functioning, including individuals with severe language impairments. This study aimed to evaluate the psychometric properties of the newly developed instrument. Calculations were based on a consecutive clinical sample of N=76 adults with intellectual and developmental disabilities (IDD) suspected of ASD. Objectivity, test-retest reliability, and construct validity were calculated and a confirmatory factor analysis was applied to verify a reduced and optimized test version. The structural model showed a good fit, while internal consistency of the subscales was excellent (ω>.92). Item difficulties ranged between .04≤pi≤.82 and item-total correlation from .21 to .85. Objectivity was assessed by comparing the scorings of two external raters based on a subsample of n=12; interrater agreement was .71 (ICC 2, 1). Reliability was calculated for four test repetitions: the average ICC (3, 1) was .69. Convergent ASD measures correlated significantly with the MUSAD, while the discriminant Modified Overt Aggression Scale (MOAS) showed no significant overlap. Confirmation of factorial structure and acceptable psychometric properties suggest that the MUSAD is a promising new instrument for diagnosing ASD in adults with IDD. Copyright © 2015 Elsevier Ltd. All rights reserved.

  12. The effectiveness of parent participation in occupational therapy for children with developmental delay

    Lin CL

    2018-02-01

    Full Text Available Chien-Lin Lin1,2 Chin-Kai Lin,3 Jia-Jhen Yu4 1Department of Physical Medicine and Rehabilitation, China Medical University Hospital, 2School of Chinese Medicine, College of Chinese Medicine, China Medical University, 3Program of Early Intervention, Department of Early Childhood Education, National Taichung University of Education, 4Occupation Therapy Unit of Rehabilitation Techniques Section, Lin Shin Medical Corporation Wuri Lin Shin Hospital, Taichung, Taiwan Introduction: This study aims to explore the impact of Parent Participation Program on the development of developmental delay children. Methods: Pretest-posttest equivalent-group experimental design study was used in this paper. A total of 30 pairs of developmental delay children aged 0–72 months and their parents participated into this study. They were divided into two groups, namely control group and experimental group, according to parents’ wishes. The objects of study in control group received 16 courses of direct rehabilitation therapy; those in experimental group received 8 courses of direct rehabilitation therapy and 8 courses of instruction and tracking of Parent Participation Program. The duration of the intervention was 8 weeks. All cases should be evaluated before and after the intervention, to analyze the difference before and after intervention and among groups. The statistical methods in this paper included descriptive analysis, Chi-square test, independent sample t-test, pair-sample t-test. Results and conclusion: The intervention of Parent Participation Occupational Program has positive impact on the development of developmental delay children in various fields. Among all the intervention results, the progress of the experimental group is 1.895 times more than that of the control group. With parent involvement, Parent Participation Occupational Therapy can promote the cognitive ability, language ability, action ability (gross and fine movement, social competence and

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

    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

  14. Polybrominated diphenyl ethers in relation to autism and developmental delay: a case-control study

    2011-01-01

    Background Polybrominated diphenyl ethers (PBDEs) are flame retardants used widely and in increasing amounts in the U.S. over the last few decades. PBDEs and their metabolites cross the placenta and studies in rodents demonstrate neurodevelopmental toxicity from prenatal exposures. PBDE exposures occur both via breastfeeding and hand-to-mouth activities in small children. Methods Participants were 100 children from the CHARGE (CHildhood Autism Risk from Genetics and the Environment) Study, a case-control epidemiologic investigation of children with autism/autism spectrum disorder, with developmental delay and from the general population. Diagnoses of autism were confirmed by the Autism Diagnostic Observation Schedule and Autism Diagnostic Inventory-Revised, and of developmental delay using the Mullen's Scales of Early Learning and the Vineland Adaptive Behavior Scales. Typically developing controls were those with no evidence of delay, autism, or autism spectrum disorder. Eleven PBDE congeners were measured by gas chromatography/mass spectrometry from serum specimens collected after children were assessed. Logistic regression was used to evaluate the association between plasma PBDEs and autism. Results Children with autism/autism spectrum disorder and developmental delay were similar to typically developing controls for all PBDE congeners, but levels were high for all three groups. Conclusions Plasma samples collected post-diagnosis in this study may not represent early life exposures due to changes in diet and introduction of new household products containing PBDEs. Studies with direct measurements of prenatal or infant exposures are needed to assess the possible causal role for these compounds in autism spectrum disorders. PMID:21205326

  15. Factors Influencing Institutional-Based Pediatric Rehabilitation Services among Caregivers of Children with Developmental Delay in Southwestern Rajasthan

    Mishra, Kriti; Siddharth, V.

    2018-01-01

    Context: A limited number of caregivers of children with developmental delay access rehabilitation facilities in India. The study explored utilization of rehabilitation services at a tertiary care setup in southwestern Rajasthan and various factors influencing it. Aims: The aim of this study is to explore rehabilitation service utilization among children with developmental delay at a tertiary care setup and to ascertain factors that influence this pattern. Settings: This study was conducted a...

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

    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.

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

    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.

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

    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

  19. Emotion discourse, social cognition, and social skills in children with and without developmental delays.

    Fenning, Rachel M; Baker, Bruce L; Juvonen, Jaana

    2011-01-01

    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 and 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 for the two groups. Implications for ecologically focused prevention and intervention are discussed. © 2011 The Authors. Child Development © 2011 Society for Research in Child Development, Inc.

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

    Hsieh, Ru-Lan [Department of Physical Medicine and Rehabilitation, Shin Kong Wu Ho-Su Memorial Hospital, Taipei, Taiwan (China); Department of Physical Medicine and Rehabilitation, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan (China); Su, Chien-Tien [Department of Family Medicine, Taipei Medical University Hospital, Taipei, Taiwan (China); School of Public Health, College of Public Health, Taipei Medical University, Taipei, Taiwan (China); Shiue, Horng-Sheng [Department of Chinese Medicine, Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Taoyuan, Taiwan (China); Chen, Wei-Jen; Huang, Shiau-Rung [School of Public Health, College of Public Health, Taipei Medical University, Taipei, Taiwan (China); Lin, Ying-Chin [Department of Family Medicine, Shuang Ho Hospital, Taipei Medical University, Taipei, Taiwan (China); Department of Health Examination, Wan Fang Hospital, Taipei Medical University, Taipei, Taiwan (China); Division of Family Medicine, School of Medicine, Taipei Medical University, Taipei, Taiwan (China); Lin, Ming-I; Mu, Shu-Chi [Department of Pediatrics, Shin Kong Wu Ho-Su Memorial Hospital, Taipei, Taiwan (China); Chen, Ray-Jade [Department of Digestive Surgery, Taipei Medical University Hospital, Taipei, Taiwan (China); Hsueh, Yu-Mei, E-mail: ymhsueh@tmu.edu.tw [Department of Family Medicine, Taipei Medical University Hospital, Taipei, Taiwan (China); Department of Public Health, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan (China)

    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{sup III}), arsenate (As{sup V}), monomethylarsonic acid (MMA{sup V}), and dimethylarsinic acid (DMA{sup 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

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

    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

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

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

    2016-01-01

    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, while 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. PMID:28054804

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

    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.

  4. Homozygous variegate porphyria presenting with developmental and language delay in childhood.

    Pinder, V A E; Holden, S T; Deshpande, C; Siddiqui, A; Mellerio, J E; Wraige, E; Powell, A M

    2013-10-01

    Variegate porphyria is an autosomal dominant disorder that usually presents with photosensitivity and acute neurological crises in adulthood. It is caused by heterozygous mutations in the protoporphyrinogen oxidase gene (PPOX). A rarer variant, homozygous variegate porphyria (HVP), presents in childhood with recurrent skin blisters and scarring. More variable features of HVP are short stature, brachydactyly, nystagmus, epilepsy, developmental delay and mental retardation. We describe a child who presented with nystagmus, developmental delay and ataxia, combined with a photosensitive eruption. Analysis of porphyrins in plasma, urine and stool supported a clinical diagnosis of HVP. DNA from the patient showed that he is compound heterozygous for two novel missense mutations in the PPOX coding region: c.169G>C (p.Gly57Arg) and c.1259C>G (Pro420Arg). Interestingly, cranial magnetic resonance imaging showed an absence of myelin, a feature not previously reported in HVP, which expands the differential diagnosis of childhood hypomyelinating leucoencephalopathies. © 2013 British Association of Dermatologists.

  5. Genetic Evaluation of Children with Global Developmental Delay--Current Status of Network Systems in Taiwan.

    Foo, Yong-Lin; Chow, Julie Chi; Lai, Ming-Chi; Tsai, Wen-Hui; Tung, Li-Chen; Kuo, Mei-Chin; Lin, Shio-Jean

    2015-08-01

    This review article aims to introduce the screening and referral network of genetic evaluation for children with developmental delay in Taiwan. For these children, integrated systems provide services from the medical, educational, and social welfare sectors. All cities and counties in Taiwan have established a network for screening, detection, referral, evaluation, and intervention services. Increased awareness improves early detection and intervention. There remains a gap between supply and demand, especially with regard to financial resources and professional manpower. Genetic etiology has a major role in prenatal causes of developmental delay. A summary of reports on some related genetic disorders in the Taiwanese population is included in this review. Genetic diagnosis allows counseling with regard to recurrence risk and prevention. Networking with neonatal screening, laboratory diagnosis, genetic counseling, and orphan drugs logistics systems can provide effective treatment for patients. In Taiwan, several laboratories provide genetic tests for clinical diagnosis. Accessibility to advanced expensive tests such as gene chips or whole exome sequencing is limited because of funding problems; however, the service system in Taiwan can still operate in a relatively cost-effective manner. This experience in Taiwan may serve as a reference for other countries. Copyright © 2014. Published by Elsevier B.V.

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

    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).

  7. Contribution of parenting to complex syntax development in preschool children with developmental delays or typical development.

    Moody, C T; Baker, B L; Blacher, J

    2018-05-10

    Despite studies of how parent-child interactions relate to early child language development, few have examined the continued contribution of parenting to more complex language skills through the preschool years. The current study explored how positive and negative parenting behaviours relate to growth in complex syntax learning from child age 3 to age 4 years, for children with typical development or developmental delays (DDs). Participants were children with or without DD (N = 60) participating in a longitudinal study of development. Parent-child interactions were transcribed and coded for parenting domains and child language. Multiple regression analyses were used to identify the contribution of parenting to complex syntax growth in children with typical development or DD. Analyses supported a final model, F(9,50) = 11.90, P < .001, including a significant three-way interaction between positive parenting behaviours, negative parenting behaviours and child delay status. This model explained 68.16% of the variance in children's complex syntax at age 4. Simple two-way interactions indicated differing effects of parenting variables for children with or without DD. Results have implications for understanding of complex syntax acquisition in young children, as well as implications for interventions. © 2018 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

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

    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.

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

    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 <80). The proportion of delay for each domain was as follows: communication 82.5%; cognitive 80.8%; social-personal 33.8%; 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.

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

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

    2017-09-01

    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 the more advanced ToM task, i.e. comic strip test. Based on a sample of 37 children with ASD and 55 TD children, our results revealed slower development at varying rates in all ToM measures in children with ASD, with delayed onset compared to TD children. These results could stimulate new treatments for social abilities, which would lessen the social deficit in ASD.

  11. Binge consumption of ethanol during pregnancy leads to significant developmental delay of mouse embryonic brain

    Sudheendran, Narendran; Bake, Shameena; Miranda, Rajesh C.; Larin, Kirill V.

    2014-03-01

    Consumption of alcohol during pregnancy can be severely detrimental to the development of the brain in fetuses. This study explores the usage of optical coherence tomography (OCT) to the study the effects of maternal consumption of ethanol on brain development in mouse fetuses. On gestational day 14.5, fetuses were collected and fixed in 4% paraformaldehyde. A swept-source OCT (SSOCT) system was used to acquire 3D images of the brain of ethanol-exposed and control fetuses. The volume of right and left brain ventricles were measured and used to compare between ethanol-exposed and control fetuses. A total of 5 fetuses were used for each of the two groups. The average volumes of the right and left ventricles were measured to be 0.35 and 0.15 mm3 for ethanol-exposed and control fetuses, respectively. The results demonstrated that there is an alcohol-induced developmental delay in mouse fetal brains.

  12. De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux.

    Fujita, Atsushi; Isidor, Bertrand; Piloquet, Hugues; Corre, Pierre; Okamoto, Nobuhiko; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Saitsu, Hirotomo; Miyake, Noriko; Matsumoto, Naomichi

    2016-09-01

    MEIS2 aberrations are considered to be the cause of intellectual disability, cleft palate and cardiac septal defect, as MEIS2 copy number variation is often observed with these phenotypes. To our knowledge, only one nucleotide-level change-specifically, an in-frame MEIS2 deletion-has so far been reported. Here, we report a female patient with a de novo nonsense mutation (c.611C>G, p.Ser204*) in MEIS2. She showed severe intellectual disability, moderate motor/verbal developmental delay, cleft palate, cardiac septal defect, hypermetropia, severe feeding difficulties with gastro-esophageal reflux and constipation. By reviewing this patient and previous patients with MEIS2 point mutations, we found that feeding difficulty with gastro-esophageal reflux appears to be one of the core clinical features of MEIS2 haploinsufficiency, in addition to intellectual disability, cleft palate and cardiac septal defect.

  13. Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness.

    Hildebrand, Michael S; de Silva, Michelle G; Tan, Tiong Yang; Rose, Elizabeth; Nishimura, Carla; Tolmachova, Tanya; Hulett, Joanne M; White, Susan M; Silver, Jeremy; Bahlo, Melanie; Smith, Richard J H; Dahl, Hans-Henrik M

    2007-11-01

    X-linked syndromes associated with developmental delay and sensorineural hearing loss (SNHL) have been characterized at the molecular level, including Mohr-Tranebjaerg syndrome and Norrie disease. In this study we report on a novel X-linked recessive, congenital syndrome in a family with developmental delay and SNHL that maps to a locus associated with mental retardation (MR) for which no causative gene has been identified. The X-linked recessive inheritance and congenital nature of the syndrome was confirmed by detailed clinical investigation and the family history. Linkage mapping of the X-chromosome was conducted to ascertain the disease locus and candidate genes were screened by direct sequencing and STRP analysis. The recessive syndrome was mapped to Xp11.3-q21.32 and a deletion was identified in a regulatory region upstream of the POU3F4 gene in affected family members. Since mutations in POU3F4 cause deafness at the DFN3 locus, the deletion is the likely cause of the SNHL in this family. The choroideremia (CHM) gene was also screened and a novel missense change was identified. The alteration changes the serine residue at position 89 in the Rab escort 1 protein (REP-1) to a cysteine (S89C). Prenylation of Rab proteins was investigated in patients and the location of REP-1 expression in the brain determined. However, subsequent analysis revealed that this change in CHM was polymorphic having no effect on REP-1 function. Although the causative gene at the MR locus in this family has not been identified, there are a number of genes involved in syndromic and nonsyndromic forms of MR that are potential candidates. Copyright 2007 Wiley-Liss, Inc.

  14. Predictors of Poor School Readiness in Children Without Developmental Delay at Age 2

    Dudovitz, Rebecca N.; Coker, Tumaini R.; Barnert, Elizabeth S.; Biely, Christopher; Li, Ning; Szilagyi, Peter G.; Larson, Kandyce; Halfon, Neal; Zimmerman, Frederick J.; Chung, Paul J.

    2016-01-01

    BACKGROUND AND OBJECTIVES: Current recommendations emphasize developmental screening and surveillance to identify developmental delays (DDs) for referral to early intervention (EI) services. Many young children without DDs, however, are at high risk for poor developmental and behavioral outcomes by school entry but are ineligible for EI. We developed models for 2-year-olds without DD that predict, at kindergarten entry, poor academic performance and high problem behaviors. METHODS: Data from the Early Childhood Longitudinal Study, Birth Cohort (ECLS-B), were used for this study. The analytic sample excluded children likely eligible for EI because of DDs or very low birth weight. Dependent variables included low academic scores and high problem behaviors at the kindergarten wave. Regression models were developed by using candidate predictors feasibly obtainable during typical 2-year well-child visits. Models were cross-validated internally on randomly selected subsamples. RESULTS: Approximately 24% of all 2-year-old children were ineligible for EI at 2 years of age but still had poor academic or behavioral outcomes at school entry. Prediction models each contain 9 variables, almost entirely parental, social, or economic. Four variables were associated with both academic and behavioral risk: parental education below bachelor’s degree, little/no shared reading at home, food insecurity, and fair/poor parental health. Areas under the receiver-operating characteristic curve were 0.76 for academic risk and 0.71 for behavioral risk. Adding the mental scale score from the Bayley Short Form–Research Edition did not improve areas under the receiver-operating characteristic curve for either model. CONCLUSIONS: Among children ineligible for EI services, a small set of clinically available variables at age 2 years predicted academic and behavioral outcomes at school entry. PMID:27432845

  15. Exposure of children with developmental delay to social determinants of poor health: cross-sectional case record review study.

    Emerson, E; Brigham, P

    2015-03-01

    Research on child development in general has highlighted the importance that the family environment plays in mediating the pathway between exposure to low socio-economic position (SEP) and child well-being. While child developmental models in intellectual disability have highlighted the interplay between social context, family environment and child development, little empirical work has attempted to formally evaluate the evidence in support of specific mediating pathways between low SEP and child outcomes. Secondary analysis of cross-sectional confidentialized needs analysis data collected in three Primary Care Trusts in England covering a total population of 1.25 million people. Case record reviews were undertaken for 46 023 households, 2236 (4.9%) of which contained a child in the target age range with developmental delay. Children with developmental delay, when compared with their non-disabled peers, were at significantly increased risk of poorer health outcomes and of being exposed to a wide range of social determinants of poor health. Controlling for between-group differences in exposure to social determinants of poor health reduced the risk of developmental delay being associated with poorer health outcomes by 45% for behaviour problems and 89% for risk of significant harm. For children with developmental delay, parenting difficulties appears to play a particularly significant role in partially mediating the effects of low SEP. The findings of the present study point to the potential effectiveness of family-focused early intervention to prevent the emergence and escalation of behavioural difficulties and health problems in children with developmental delay. © 2014 John Wiley & Sons Ltd.

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

    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

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

    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…

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

    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

  19. Predictors of Depressive Symptoms in Primary Caregivers of Young Children with or at Risk for Developmental Delay

    Feldman, M.; McDonald, L.; Serbin, L.; Stack, D.; Secco, M. L.; Yu, C. T.

    2007-01-01

    Background: Despite extensive research with families raising children with or at risk for developmental delay (DD), it is not clear whether primary caregivers of these children are at increased risk for depressive symptoms. Discrepant findings in the literature may be owing to heterogeneity of child problems. More research is needed on child,…

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

    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…

  1. A 20 Year Review of Punishment and Alternative Methods to Treat Problem Behaviors in Developmentally Delayed Persons.

    Matson, Johnny L.; Taras, Marie E.

    1989-01-01

    Studies assessing treatments for severe behavior problems of developmentally delayed persons were reviewed. Procedures used in the 382 studies, published from 1967-1987, were analyzed in terms of problem behaviors, side effects, and treatment methods. Also examined were number of studies reported yearly, maintenance and generalization of effects,…

  2. Parent Concern and Enrollment in Intervention Services for Young Children with Developmental Delays: 2007 National Survey of Children's Health

    Marshall, Jennifer; Kirby, Russell S.; Gorski, Peter A.

    2016-01-01

    This study sought to address underenrollment and late entry to early intervention by identifying factors associated with parental concern and services for developmental delays. The authors analyzed responses from 27,566 parents of children from birth to age 5 from the 2007 National Survey of Children's Health to quantify and to identify factors…

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

    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...

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

    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

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

    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

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

    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.

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

    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

  8. The activation of visual face memory and explicit face recognition are delayed in developmental prosopagnosia.

    Parketny, Joanna; Towler, John; Eimer, Martin

    2015-08-01

    Individuals with developmental prosopagnosia (DP) are strongly impaired in recognizing faces, but the causes of this deficit are not well understood. We employed event-related brain potentials (ERPs) to study the time-course of neural processes involved in the recognition of previously unfamiliar faces in DPs and in age-matched control participants with normal face recognition abilities. Faces of different individuals were presented sequentially in one of three possible views, and participants had to detect a specific Target Face ("Joe"). EEG was recorded during task performance to Target Faces, Nontarget Faces, or the participants' Own Face (which had to be ignored). The N250 component was measured as a marker of the match between a seen face and a stored representation in visual face memory. The subsequent P600f was measured as an index of attentional processes associated with the conscious awareness and recognition of a particular face. Target Faces elicited reliable N250 and P600f in the DP group, but both of these components emerged later in DPs than in control participants. This shows that the activation of visual face memory for previously unknown learned faces and the subsequent attentional processing and conscious recognition of these faces are delayed in DP. N250 and P600f components to Own Faces did not differ between the two groups, indicating that the processing of long-term familiar faces is less affected in DP. However, P600f components to Own Faces were absent in two participants with DP who failed to recognize their Own Face during the experiment. These results provide new evidence that face recognition deficits in DP may be linked to a delayed activation of visual face memory and explicit identity recognition mechanisms. Copyright © 2015 Elsevier Ltd. All rights reserved.

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

    Larsen, Christian Grønhøj; Charabi, Birgitte

    2015-01-01

    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...

  10. The relationship between prelinguistic vocalization and later expressive vocabulary in young children with developmental delay.

    McCathren, R B; Yoder, P J; Warren, S F

    1999-08-01

    This study tested the relationship between prelinguistic vocalization and expressive vocabulary 1 year later in young children with mild to moderate developmental delays. Three vocalization variables were tested: rate of all vocalization, rate of vocalizations with consonants, and rate of vocalizations used interactively. The 58 toddlers in the study were 17-34 months old, not sensory impaired, and had Bayley Mental Development Indices (Bayley, 1969; Bayley, 1993) from 35-85. In addition, the children had fewer than 3 words in their expressive vocabularies and during classroom observation each showed at least one instance of intentional prelinguistic communication before testing. Selected sections of the Communication and Symbolic Behavior Scales procedures (CSBS; Wetherby & Prizant, 1993) were administered at the beginning and at the end of the study. The vocal measures were obtained in the initial CSBS session. One measure of expressive vocabulary was obtained in the CSBS session at the end of the study. In addition, expressive vocabulary was measured in a nonstructured play session at the end of the study. We predicted that rate of vocalization, rate of vocalizations with consonants, and rate of vocalizations used interactively would all be positively related to later expressive vocabulary. The results confirmed the predictions.

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

    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.

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

    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.

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

    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.

  14. Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14.

    Van Esch, Hilde; Rosser, Elisabeth M; Janssens, Sandra; Van Ingelghem, Ingrid; Loeys, Bart; Menten, Bjorn

    2010-10-01

    Interstitial deletions of the long arm of chromosome 6 are rare, and most reported cases represent large, cytogenetically detectable deletions. The implementation of array comparative genome hybridisation in the diagnostic work-up of patients presenting with congenital disorders, including developmental delay, has enabled identification of many patients with smaller chromosomal imbalances. In this report, the cases are presented of four patients with a de novo interstitial deletion of chromosome 6q13-14, resulting in a common microdeletion of 3.7 Mb. All presented with developmental delay, mild dysmorphism and signs of lax connective tissue. Interestingly, the common deleted region harbours 16 genes, of which COL12A1 is a good candidate for the connective tissue pathology.

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

    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. Trial Registration: ClinicalTrials.gov NCT02184715 PMID:26983099

  16. Factors influencing institutional-based pediatric rehabilitation services among caregivers of children with developmental delay in Southwestern Rajasthan

    Kriti Mishra

    2018-01-01

    Full Text Available Context: A limited number of caregivers of children with developmental delay access rehabilitation facilities in India. The study explored utilization of rehabilitation services at a tertiary care setup in southwestern Rajasthan and various factors influencing it. Aims: The aim of this study is to explore rehabilitation service utilization among children with developmental delay at a tertiary care setup and to ascertain factors that influence this pattern. Settings: This study was conducted at the department of physical medicine and rehabilitation at tertiary care setup. Design: This was an observational study. Subjects and Methods: Children with developmental delay who were advised institutional-based rehabilitation were identified over span of 1 year. Those who failed to return for rehabilitation after the first visit were interviewed telephonically. The interview had semi-structured open-ended questions about their reasons for inability to avail services. Statistical Analysis: SPSS statistics 22 was used for descriptive analysis and correlation of variables. Results: Of 230 children with developmental delay visiting department in 1-year duration, 48 took regular rehabilitation. Parents of 129 children with complete records were asked regarding discontinuation. Factors cited by majority were long distance from institute and service at hospital. Other reasons for discontinuation were related to belief system, family issues, time issues, socioeconomic factors, etc. Socioeconomic status was significantly associated with parental education (C = 0.488, P = 0.000 and financial issues. Location of family had significant association with long distance (C = 0.315, P = 0.000, parental education (C = 0.251, P = 0.003, and belief system (C = 0.265, P = 0.002. Conclusions: Distance from institute and quality of hospital service determined rehabilitation service use at a tertiary institute. Other factors such as socioeconomic status, family support, and

  17. Factors Influencing Institutional-Based Pediatric Rehabilitation Services among Caregivers of Children with Developmental Delay in Southwestern Rajasthan.

    Mishra, Kriti; Siddharth, V

    2018-01-01

    A limited number of caregivers of children with developmental delay access rehabilitation facilities in India. The study explored utilization of rehabilitation services at a tertiary care setup in southwestern Rajasthan and various factors influencing it. The aim of this study is to explore rehabilitation service utilization among children with developmental delay at a tertiary care setup and to ascertain factors that influence this pattern. This study was conducted at the department of physical medicine and rehabilitation at tertiary care setup. This was an observational study. Children with developmental delay who were advised institutional-based rehabilitation were identified over span of 1 year. Those who failed to return for rehabilitation after the first visit were interviewed telephonically. The interview had semi-structured open-ended questions about their reasons for inability to avail services. SPSS statistics 22 was used for descriptive analysis and correlation of variables. Of 230 children with developmental delay visiting department in 1-year duration, 48 took regular rehabilitation. Parents of 129 children with complete records were asked regarding discontinuation. Factors cited by majority were long distance from institute and service at hospital. Other reasons for discontinuation were related to belief system, family issues, time issues, socioeconomic factors, etc. Socioeconomic status was significantly associated with parental education (C = 0.488, P = 0.000) and financial issues. Location of family had significant association with long distance (C = 0.315, P = 0.000), parental education (C = 0.251, P = 0.003), and belief system (C = 0.265, P = 0.002). Distance from institute and quality of hospital service determined rehabilitation service use at a tertiary institute. Other factors such as socioeconomic status, family support, and social belief system must also be addressed while delivering institutional rehabilitation to children.

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

    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.

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

    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.

  20. Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14

    2010-01-01

    Abstract Interstitial deletions of the long arm of chromosome 6 are rare, and most of the reported cases represent large, cytogenetically detectable deletions. The implementation of array-CGH in the diagnostic work-up of patients presenting with congenital disorders including developmental delay has enabled the identification of many patients with smaller chromosomal imbalances. Here we present 4 patients with a de novo interstitial deletion of chromosome 6q13-14, resulting in a c...

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

    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

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

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

    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.

  4. Updates in the genetic evaluation of the child with global developmental delay or intellectual disability.

    Flore, Leigh Anne; Milunsky, Jeff M

    2012-12-01

    Global developmental delay (GDD) and intellectual disability (ID) occur in up to 3% of the general population and are even more commonly encountered in the setting of the pediatric neurology clinic. New advances in technology and in the understanding of genetic disorders have led to changes in the diagnostic approach to a child with unexplained GDD or ID. Chromosomal microarray has become a first-line test for evaluation of patients in this population and has both significantly increased diagnostic yield and introduced new challenges in the interpretation of copy number variants of uncertain significance. The G-banded karyotype is now frequently utilized as an adjunct to the microarray rather than as a first-line test in individuals with GDD or ID. Fragile X DNA testing continues to be recommended in the initial evaluation of the child with GDD or ID. The presence or absence of certain cardinal features (such as microcephaly or macrocephaly, seizures, autism, abnormal neurologic examination, and facial dysmorphism) can be utilized to direct single-gene molecular testing. The availability of next-generation and massively parallel sequencing technologies has enabled the use of genetic testing panels, in which dozens of genes associated with GDD or ID may be rapidly analyzed. Most recently, the clinical availability of whole-genome and whole-exome sequencing has opened new possibilities for the evaluation of individuals with GDD or ID who have previously eluded a genetic diagnosis. Consultation with a medical geneticist is recommended when progressing beyond first-tier analyses to most efficiently prioritize testing. Copyright © 2012 Elsevier Inc. All rights reserved.

  5. Reliability of ultrasonographic measurements in suspected patients of developmental dysplasia of the hip and correlation with the acetabular index

    Cem Copuroglu

    2011-01-01

    Full Text Available Background: Ultrasonography is accepted as a useful imaging modality in the early detection of developmental dysplasia of the hip (DDH. Early detection and early treatment of DDH prevents hip dislocation and related physical, social, economic, and psychological problems. The purpose of this study was to evaluate the reliability of ultrasonographic and roentgenographic measurements measured by seven different observers. Materials and Methods: The alpha angles of 66 hips in 33 patients were measured using the Graf method by seven different observers. Acetabular index degrees on plane roentgenograms were measured in order to assess the correlation between the ultrasonographic alpha angle and the radiographic acetabular index, which both show the bony acetabular depth, retrospectively. Results: The interclass correlation coefficient, measuring the interobserver reliability, was high and statistically significant for the ultrasonographic measurements. There was a negative correlation between the alpha angle and the acetabular index. Conclusions: Ultrasonography, when applied properly, is a reliable technique between different observers, in the diagnosis and follow up of DDH. When assessed concomitantly with the roentgenographic measurements, the results are reliable and statistically meaningful.

  6. Microstructural callosal abnormalities in normal-appearing brain of children with developmental delay detected with diffusion tensor imaging

    Ding, Xiao-Qi; Sun, Yimeng; Illies, Till; Zeumer, Hermann; Fiehler, Jens; Kruse, Bernd; Lanfermann, Heinrich

    2009-01-01

    Callosal fibres play an important role in psychomotor and cognitive functions. The purpose of this study was to investigate possible microstructural abnormalities of the corpus callosum in children with developmental delay, who have normal conventional brain MR imaging results. Seventeen pediatric patients (aged 1-9 years) with developmental delay were studied. Quantitative T2 and fractional anisotropy (FA) values were measured at the genu and splenium of the corpus callosum (CC). Fibre tracking, volumetric determination, as well as fibre density calculations of the CC were also carried out. The results were compared with those of the age-matched healthy subjects. A general elevation of T2 relaxation times (105 ms in patients vs. 95 ms in controls) and reduction of the FA values (0.66 in patients vs. 0.74 in controls) at the genu of the CC were found in patients. Reductions of the fibre numbers (5,464 in patients vs. 8,886 in controls) and volumes (3,415 ml in patients vs. 5,235 ml in controls) of the CC were found only in patients older than 5 years. The study indicates that despite their inconspicuous findings in conventional MRI microstructural brain abnormalities are evident in these pediatric patients suffering from developmental delay. (orig.)

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

    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?

    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.)

  9. Correlation between hyperbilirubinemia in term infants and developmental delay in 2-4 year-old children

    Rocky Wilar

    2010-06-01

    medical record of infants born between 2006-2007 in Division of Neonatology Prof. R.D. Kandoll General Hospital, Manado. Data from the medical record consisted of weeks of gestation, birth weight, Apgar scores, diagnosis of sepsis, congenital anomalies. Tenn infants with appropriate weight for gestational age were visited at their home to undergo developmental screening by Denver II and Vineland Social Maturity Scale test. Results Fifty one children enrolled in this study (26 children with hyperbilirubinemia and 25 without  hyperbilirubinemia consisted of 27 boys and 24 girls. Most children were 24 - 29 months old (24/51. The results of Vineland Social Maturity Scale test showed 14 children had delayed social maturation (10 Mth history of  hyperbilirubinemia. Denver II screening found 11 children had delayed language skill (10 Mth history of hyperbilirubinemia, 1 child Mth hyperbilirubinemia had delayed fine motoric and language skill. Conclusions T here is a relationship between moderate hyperbilirubinemia in tenn infants and developmental delay in 2 - 4 year old children.

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

    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

    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?

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

    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

  14. Intranasal insulin to improve developmental delay in children with 22q13 deletion syndrome: an exploratory clinical trial.

    Schmidt, H; Kern, W; Giese, R; Hallschmid, M; Enders, A

    2009-04-01

    The 22q13 deletion syndrome (Phelan-McDermid syndrome) is characterised by a global developmental delay, absent or delayed speech, generalised hypotonia, autistic behaviour and characteristic phenotypic features. Intranasal insulin has been shown to improve declarative memory in healthy adult subjects and in patients with Alzheimer disease. To assess if intranasal insulin is also able to improve the developmental delay in children with 22q13 deletion syndrome. We performed exploratory clinical trials in six children with 22q13 deletion syndrome who received intranasal insulin over a period of 1 year. Short-term (during the first 6 weeks) and long-term effects (after 12 months of treatment) on motor skills, cognitive functions, or autonomous functions, speech and communication, emotional state, social behaviour, behavioural disorders, independence in daily living and education were assessed. The children showed marked short-term improvements in gross and fine motor activities, cognitive functions and educational level. Positive long-term effects were found for fine and gross motor activities, nonverbal communication, cognitive functions and autonomy. Possible side effects were found in one patient who displayed changes in balance, extreme sensitivity to touch and general loss of interest. One patient complained of intermittent nose bleeding. We conclude that long-term administration of intranasal insulin may benefit motor development, cognitive functions and spontaneous activity in children with 22q13 deletion syndrome.

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

    Panigrahy, Ashok; Barnes, Patrick D.; Robertson, Robert L.; Sleeper, Lynn A.; Sayre, James W.

    2005-01-01

    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.)

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

    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.)

  17. Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements

    Whibley, Annabel; Urquhart, Jill; Dore, Jonathan; Willatt, Lionel; Parkin, Georgina; Gaunt, Lorraine; Black, Graeme; Donnai, Dian; Raymond, F Lucy

    2010-01-01

    Monoamine oxidases (MAO-A and MAO-B) have a key role in the degradation of amine neurotransmitters, such as dopamine, norepinephrine and serotonin. We identified an inherited 240 kb deletion on Xp11.3–p11.4, which encompasses both monoamine oxidase genes but, unlike other published reports, does not affect the adjacent Norrie disease gene (NDP). The brothers who inherited the deletion, and thus have no monoamine oxidase function, presented with severe developmental delay, intermittent hypoton...

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

    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.

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

    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.

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

    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.

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

    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.

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

    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.

  3. Effects of an App Incorporating Systematic Instruction to Teach Spelling to Students with Developmental Delays

    Ault, Melinda Jones; Baggerman, Melanie A.; Horn, Channon K.

    2017-01-01

    This study used a multiple probe (conditions) design across behaviors to investigate the effects of an app for the tablet computer to teach spelling of academic content words to four students with developmental disabilities. The app delivered instruction using a model-lead-test format and students typed on the on-screen keyboard. The study also…

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

    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…

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

    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...

  6. A Direct Comparison of Self-Injurious and Stereotyped Motor Behavior Between Preschool-Aged Children With and Without Developmental Delays.

    Hoch, John; Spofford, Lisa; Dimian, Adele; Tervo, Raymond; MacLean, William E; Symons, Frank J

    2016-06-01

    To compare the prevalence of self-injurious behavior (SIB) and stereotyped motor behavior (STY) of preschool-aged children with developmental delays (DD group) and their peers without developmental delays (TD group) using a standardized caregiver report scale. The Repetitive Behavior Scale-Revised was completed by caregivers of children with developmental delays and their peers without developmental delays. Frequency of occurrence and severity ratings for SIB and STY were compared between groups. SIB and STY were reported more often and at a greater level of severity in the DD group. Older chronological age was associated with more severe STY in the DD group but not the TD group. Gender was not related to STY or SIB for either group. Differences in STY and SIB were evident between preschoolers with and without DD. Findings are discussed from developmental and behavioral psychology perspectives regarding the expression of repetitive behavior in developmentally at-risk pediatric populations. © The Author 2015. Published by Oxford University Press on behalf of the Society of Pediatric Psychology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

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

    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…

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

    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 (hyperthyroidism, most likely Graves' disease. His free thyroxine level decreased in the first month after our examination. No increased vascularity of his thyroid gland was noted. The technetium uptake of his thyroid gland in scintigraphy was relatively increased compared to the intake of his salivary gland. We elected to observe rather than treat with anti-thyroid medications. We have to rule out spontaneous transient Graves' thyrotoxicosis when babies have symptoms of developmental delay and fail to thrive.

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

    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...... the corrected age of their child was 9-15 mo. RESULTS: We found that doxapram treatment was associated with a deficit in age-adjusted R-PDQ score. CONCLUSION: Doxapram may have a negative effect on neurodevelopmental outcome....

  10. MAOA/B deletion syndrome in male siblings with severe developmental delay and sudden loss of muscle tonus.

    Saito, Mari; Yamagata, Takanori; Matsumoto, Ayumi; Shiba, Yusuke; Nagashima, Masako; Taniguchi, Shuhei; Jimbo, Eriko; Momoi, Mariko Y

    2014-01-01

    Deletion of the monoamine oxidase (MAO)-A and MAO-B was detected in two male siblings and in their mother. The approximately 800-kb deletion, extending from about 43.0MB to 43.8MB, was detected by array comparative genomic hybridization analysis. The MAOA and MAOB genes were included in the deletion, but the adjacent Norrie disease gene, NDP, was not deleted. The boys had short stature, hypotonia, severe developmental delays, episodes of sudden loss of muscle tone, exiting behavior, lip-smacking and autistic features. The serotonin levels in their cerebrospinal fluid were extremely elevated. Another set of siblings with this deletion was reported previously. We propose recognition of MAOA/B deletion syndrome as a distinct disorder. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

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

    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/

  12. Efficacy of Early Intervention with Liskantin or Primidone to Decrease Developmental Delay in Children with Drowet and GEFS+ Syndrome

    Mohammad Reza Koushesh

    2014-03-01

    Full Text Available Objective: Febrile seizure (FS occurs between 6 months and 6 years of age. Febrile seizure is a common disease in pediatrics. Some patients are retarded with recurrent febrile seizure. For example Drawet syndrome was started with febrile seizure and progress into the intractable seizure and finally are retarded. Materials & Methods: This article is the clinical trial study. Population in this study are 86 children whit febrile seizure refer to pediatrics’ medical central. This study was carried out in 2013. In this study evaluated patients with febrile seizure’s criteria and included in the population. Children statistics with febrile seizure refer to pediatrics’ medical center registered and compared with other statistics. Data enter the SPSS program 18 version (SPSS Inc, Chicago, USA and used analysis statistical tests and also T-test, Chi Square tests. Finally evaluated total parameters by MIN+SD and reported significant difference (P-value<0.05. Numbers of patients determined according to previous study. Results: In this study 46 patients with complex febrile seizure and early initiation of treatment were not retarded and haven’t any complications. Conclusion: Early initiation of treatment in the patient whit febrile seizure very important to prophylaxis of developmental delay and developmental regression.

  13. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

    Schoch, Kelly; Meng, Linyan; Szelinger, Szabolcs; Bearden, David R; Stray-Pedersen, Asbjorg; Busk, Oyvind L; Stong, Nicholas; Liston, Eriskay; Cohn, Ronald D; Scaglia, Fernando; Rosenfeld, Jill A; Tarpinian, Jennifer; Skraban, Cara M; Deardorff, Matthew A; Friedman, Jeremy N; Akdemir, Zeynep Coban; Walley, Nicole; Mikati, Mohamad A; Kranz, Peter G; Jasien, Joan; McConkie-Rosell, Allyn; McDonald, Marie; Wechsler, Stephanie Burns; Freemark, Michael; Kansagra, Sujay; Freedman, Sharon; Bali, Deeksha; Millan, Francisca; Bale, Sherri; Nelson, Stanley F; Lee, Hane; Dorrani, Naghmeh; Goldstein, David B; Xiao, Rui; Yang, Yaping; Posey, Jennifer E; Martinez-Agosto, Julian A; Lupski, James R; Wangler, Michael F; Shashi, Vandana

    2017-02-02

    Whole-exome sequencing (WES) has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided insights into both gene function and disease biology. Here, we describe seven children with a neurodevelopmental disorder characterized by microcephaly, profound developmental delays and/or intellectual disability, cataracts, severe epilepsy including infantile spasms, irritability, failure to thrive, and stereotypic hand movements. Brain imaging in these individuals reveals delay in myelination and cerebral atrophy. We observe an identical recurrent de novo heterozygous c.892C>T (p.Arg298Trp) variant in the nucleus accumbens associated 1 (NACC1) gene in seven affected individuals. One of the seven individuals is mosaic for this variant. NACC1 encodes a transcriptional repressor implicated in gene expression and has not previously been associated with germline disorders. The probability of finding the same missense NACC1 variant by chance in 7 out of 17,228 individuals who underwent WES for diagnoses of neurodevelopmental phenotypes is extremely small and achieves genome-wide significance (p = 1.25 × 10 -14 ). Selective constraint against missense variants in NACC1 makes this excess of an identical missense variant in all seven individuals more remarkable. Our findings are consistent with a germline recurrent mutational hotspot associated with an allele-specific neurodevelopmental phenotype in NACC1. Copyright © 2017 American Society of Human Genetics. All rights reserved.

  14. 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

    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…

  15. Modeling Skills, Signs and Lettering for Children with Down Syndrome, Autism and Other Severe Developmental Delays by Video Instruction in Classroom Setting

    Biederman, G. B.; Freedman, B.

    2007-01-01

    This paper addresses optimal strategies in teaching essential life and communication skills to children with Down syndrome, autism and other developmental delays. Evidence from the literature concerning the relative efficacy of hand-over-hand (self-modeling) in contrast to passive observational teaching techniques (e.g., video modeling) shows the…

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

    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…

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

    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

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

    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;…

  19. 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

    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…

  20. 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

    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…

  1. 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

    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…

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

    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.

  3. Diagnostic yield of the comprehensive assessment of developmental delay/mental retardation in an institute of child neuropsychiatry.

    Battaglia, A; Bianchini, E; Carey, J C

    1999-01-01

    The Consensus Conference of the American College of Medical Genetics has established guidelines regarding the evaluation of patients with mental retardation (MR) [Curry et al., Am. J. Med. Genet. 72:468-477, 1997]. They emphasized the high diagnostic utility of cytogenetic studies and of neuroimaging in certain clinical settings. However, data on the diagnostic yield of these studies in well-characterized populations of individuals with MR are scant. Majnemer and Shevell [J. Pediatr. 127:193-199, 1995] attained a diagnostic yield of 63%. However, this study included only 60 patients and the classification included pathogenetic and causal groups. The Stella Maris Institute has evaluated systematically patients with developmental delay (DD)/MR and performed various laboratory studies and neuroimaging in almost all patients. We report a retrospective analysis of the diagnostic yield of 120 consecutive patients observed at our Institute during the first 6 months of 1996. There were 77 males and 43 females; 47 were mildly delayed (IQ 70-50), 31 were moderately delayed (IQ 50-35), and 42 were severely delayed (IQ 35-20). Diagnostic studies (history, physical examination, standard cytogenetics, fragile X testing, molecular studies, electroencephalography, electromyography, nerve conduction studies, neuroimaging, and metabolic screening tests) yielded a causal diagnosis in 50 (41.6%) and a pathogenetic diagnosis in 47 (39.2%) of the 120 patients. Causal categories included chromosomal abnormalities (14), Fra(X) syndromes (4), known MCA/MR syndromes (19), fetal environmental syndromes (1), neurometabolic (3) disorders, neurocutaneous (3) disorders, hypoxic-ischemic encephalopathy (3), other encephalopathies (1), and congenital bilateral perisylvian syndrome (2). Pathogenetic categories included idiopathic MCA/MR syndromes (35), epileptic syndromes (10), and isolated lissencephaly sequence (2). Diagnostic yield did not differ across categories and degree of DD. Our results

  4. Developmental Delays in Executive Function from 3 to 5 Years of Age Predict Kindergarten Academic Readiness.

    Willoughby, Michael T; Magnus, Brooke; Vernon-Feagans, Lynne; Blair, Clancy B

    Substantial evidence has established that individual differences in executive function (EF) in early childhood are uniquely predictive of children's academic readiness at school entry. The current study tested whether growth trajectories of EF across the early childhood period could be used to identify a subset of children who were at pronounced risk for academic impairment in kindergarten. Using data that were collected at the age 3, 4, and 5 home assessments in the Family Life Project ( N = 1,120), growth mixture models were used to identify 9% of children who exhibited impaired EF performance (i.e., persistently low levels of EF that did not show expected improvements across time). Compared to children who exhibited typical trajectories of EF, the delayed group exhibited substantial impairments in multiple indicators of academic readiness in kindergarten (Cohen's ds = 0.9-2.7; odds ratios = 9.8-23.8). Although reduced in magnitude following control for a range of socioeconomic and cognitive (general intelligence screener, receptive vocabulary) covariates, moderate-sized group differences remained (Cohen's ds = 0.2-2.4; odds ratios = 3.9-5.4). Results are discussed with respect to the use of repeated measures of EF as a method of early identification, as well as the resulting translational implications of doing so.

  5. Spooky Suspects

    Pacifici, Lara

    2011-01-01

    This activity presents an option for covering biology content while engaging students in an investigation that highlights the spirit of Halloween. Students are engaged in the story line and have fun trying to solve the mystery kidnapping by using science skills to examine the evidence and eliminate some ghoulish suspects. (Contains 1 figure.)

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

    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.

  7. [Application of single nucleotide polymorphism-microarray and target gene sequencing in the study of genetic etiology of children with unexplained intellectual disability or developmental delay].

    Gao, Z J; Jiang, Q; Cheng, D Z; Yan, X X; Chen, Q; Xu, K M

    2016-10-02

    Objective: To evaluate the application of single nucleotide polymorphism (SNP)-microarray and target gene sequencing technology in the clinical molecular genetic diagnosis of unexplained intellectual disability(ID) or developmental delay (DD). Method: Patients with ID or DD were recruited in the Department of Neurology, Affiliated Children's Hospital of Capital Institute of Pediatrics between September 2015 and February 2016. The intellectual assessment of the patients was performed using 0-6-year-old pediatric examination table of neuropsychological development or Wechsler intelligence scale (>6 years). Patients with a DQ less than 49 or IQ less than 51 were included in this study. The patients were scanned by SNP-array for detection of genomic copy number variations (CNV), and the revealed genomic imbalance was confirmed by quantitative real time-PCR. Candidate gene mutation screening was carried out by target gene sequencing technology.Causal mutations or likely pathogenic variants were verified by polymerase chain reaction and direct sequencing. Result: There were 15 children with ID or DD enrolled, 9 males and 6 females. The age of these patients was 7 months-16 years and 9 months. SNP-array revealed that two of the 15 patients had genomic CNV. Both CNV were de novo micro deletions, one involved 11q24.1q25 and the other micro deletion located on 21q22.2q22.3. Both micro deletions were proved to have a clinical significance due to their association with ID, brain DD, unusual faces etc. by querying Decipher database. Thirteen patients with negative findings in SNP-array were consequently examined with target gene sequencing technology, genotype-phenotype correlation analysis and genetic analysis. Five patients were diagnosed with monogenic disorder, two were diagnosed with suspected genetic disorder and six were still negative. Conclusion: Sequential use of SNP-array and target gene sequencing technology can significantly increase the molecular genetic etiologic

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

    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.

  9. A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family.

    Naseer, Muhammad Imran; Rasool, Mahmood; Jan, Mohammed M; Chaudhary, Adeel G; Pushparaj, Peter Natesan; Abuzenadah, Adel M; Al-Qahtani, Mohammad H

    2016-12-15

    PGAP2 (Post-GPI Attachment to Proteins 2) gene is involved in lipid remodeling steps of Glycosylphosphatidylinositol (GPI)-anchor maturation. At the surface of the cell this gene is required for proper expression of GPI-anchored proteins. Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation. Mutations in the PGAP2 gene cause hyperphosphatasia mental retardation syndrome-3. We have identified a large consanguineous family from Saudi origin segregating developmental delay, intellectual disability, epilepsy and microcephaly. Whole exome sequencing with 100× coverage was performed on two affected siblings of the family. Data analysis in the patient revealed a novel missense mutation c.191C>T in PGAP2 gene resulting in Alanine to Valine substitution (Ala64Val). The mutation was reconfirmed and validated by subsequent Sanger sequencing method. The mutation was ruled out in 100 unrelated healthy controls. We suggest that this pathogenic mutation disrupts the proper function of the gene proteins resulting in the disease state. Copyright © 2016 Elsevier B.V. All rights reserved.

  10. A boy with developmental delay, malformations, and evidence of a connective tissue disorder: possibly a new type of cutis laxa.

    Armstrong, Linlea; Jimenez, Carmencita; Hunter, Alasdair G W

    2003-05-15

    We report a 7.5-year-old boy with loose translucent skin, aortic dilatation, hyperextensible veins, recurrent respiratory problems, pectus excavatum, arthralgias, lax joints, mild epiphyseal dysplasia, and umbilical and inguinal hernias. He also has developmental delay, progressive bilateral sensorineural hearing loss, an unusual facial appearance, terminal digit hypoplasia with unusual radiographic changes in some of the phalanges, glandular hypospadias, shawl scrotum, and undescended testes. Biochemical investigations, including electrophoresis of Types 1 and 3 procollagens and collagens, and quantification of serum copper and ceruloplasmin, are normal. Relative to age-matched control patients the electron micrographs of the boy's dermis show elastin fibers to be decreased in number, and abnormal in appearance, with a low matrix to microfibril ratio. The organ distribution of abnormalities and the nature of the findings suggest a connective tissue disorder. We contrast and compare this boy's phenotype to those of the classic connective tissue disorders. We conclude that he has cutis laxa with features that distinguish him from previously described types of cutis laxa. Copyright 2003 Wiley-Liss, Inc.

  11. The effect of adding a home program to weekly institutional-based therapy for children with undefined developmental delay: a pilot randomized clinical trial.

    Tang, Mei-Hua; Lin, Chin-Kai; Lin, Wen-Hsien; Chen, Chao-Huei; Tsai, Sen-Wei; Chang, Yin-Yi

    2011-06-01

    Early rehabilitation for children with developmental delay without a defined etiology have included home and clinic programs, but no comparisons have been made and efficacy is uncertain. We compared a weekly visit for institutional-based therapy (IT) to IT plus a structured home activity program (HAP). Seventy children who were diagnosed with motor or global developmental delay (ages 6-48 months and mean developmental age 12.5 months) without defined etiology were recruited (including 45 males and 23 females). The outcomes included the comprehensive developmental inventory for infants and toddlers test and the pediatric evaluation of disability inventory. Children who received only IT improved in developmental level by 2.11 months compared with 3.11 months for those who received a combination of IT and HAP (p = 0.000). On all domains of the comprehensive developmental inventory for infants and toddlers test, except for self-help, children who participated in HAP showed greater improvements, including in cognition (p = 0.015), language (p = 0.010), motor (p = 0.000), and social (p = 0.038) domains. Except on the subdomain of self-care with caregiver assistance, the HAP group showed greater improvement in all the pediatric evaluation of disability inventory subdomains (p < 0.05). Early intervention programs are helpful for these children, and the addition of structured home activity programs may augment the effects on developmental progression. Copyright © 2011. Published by Elsevier B.V.

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

    Lukoshe, Akvile; Hokken-Koelega, Anita C; van der Lugt, Aad; White, Tonya

    2014-01-01

    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. 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. 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. These results suggest that lower cortical complexity in children with PWS partially underlies cognitive impairment and developmental delay, probably due to alterations in gene networks that play a prominent role in

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

    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.

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

    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

  15. Developmental Immunotoxicity

    Animal models suggest that the immature immune system is more susceptible to xenobiotics than the fully mature system, and sequelae of developmental immunotoxicant exposure may be persistent well into adulthood. Immune maturation may be delayed by xenobiotic exposure and recover...

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

    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. A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay.

    Liang, Liyang; Xie, Yingjun; Shen, Yiping; Yin, Qibin; Yuan, Haiming

    2016-01-01

    Proximal 4p deletion syndrome is a relatively rare genetic condition characterized by dysmorphic facial features, limb anomalies, minor congenital heart defects, hypogonadism, cafe-au-lait spots, developmental delay, tall and thin habitus, and intellectual disability. At present, over 20 cases of this syndrome have been published. However, duplication of the same region in proximal 4p has never been reported. Here, we describe a 2-year-5-month-old boy with severe congenital heart defects, limb anomalies, hypogonadism, distinctive facial features, pre- and postnatal developmental delay, and mild cognitive impairments. A de novo 4.5-Mb interstitial duplication at 4p15.2p15.1 was detected by chromosomal microarray analysis. Next-generation sequencing was employed and confirmed the duplication, but revealed no additional pathogenic variants. Several candidate genes in this interval responsible for the complex clinical phenotype were identified, such as RBPJ, STIM2, CCKAR, and LGI2. The results suggest a novel contiguous gene duplication syndrome. © 2016 S. Karger AG, Basel.

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

    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.

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

    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…

  20. Albinism and Developmental Delay: The Need to Test for 15q11–q13 deletion

    Saadeh, Reem; Lisi, Emily C.; Batista, Denise A.S.; McIntosh, Iain; Hoover-Fong, Julie E.

    2007-01-01

    We report a 17-month-old African female with cutaneous and ophthalmologic features of oculocutaneous albinism type 2 as well as microcephaly, absent speech, tremulous movements. P gene mutations within the Angelman/Prader-Willi syndrome critical region at 15q11–q13 cause oculocutaneous albinism type 2. Co-morbid oculocutaneous albinism and Angelman syndrome were suspected and confirmed by cytogenetics. Phenotypic features of Angelman syndrome or Prader-Willi syndrome in a patient with albinism should prompt further investigation. PMID:17903679

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

    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

  2. [The Mediating Role of Parenting Self-Efficacy on Parenting Stress and Quality of Life in Parents of Young Children With Developmental Delay].

    Sun, Yi; Wu, Wei-Wen; Lin, Kuan-Chia; Chen, Jo-Lin

    2016-10-01

    Previous studies indicate that parents of developmentally delayed children have higher parenting stress (PS) and lower quality of life (QoL) than parents of healthy children. Parenting self-efficacy (PSE) may mediate the effects of PS on the QoL of parents. The present study explores the mediating role of PSE between PS and the QoL of parents of developmentally delayed children and compares the differences in several variables between fathers and mothers. A cross-sectional research design was used to study a sample of 70 parent dyads. Instruments used were the Basic Information Form, Parenting Stress Index Short Form (PSI-SF), Parenting Self-efficacy Scale (PSE Scale), and World Health Organization Quality of Life-BREF Taiwan version (WHOQOL-BREF). (1) Participants had a moderate level of QoL, PS, and PSE. (2) The PS of participants was significantly and negatively correlated with both QoL and PSE while their PSE was significantly and positively correlated with QoL. (3) The PSE of the fathers completely mediated the effects of PS on their QoL (p accounting for 62.2% of observed variation, while the PSE of the mothers partially mediated the effects of PS on their QoL (p accounting for 59.5% of observed variation. PSE was identified as the mediator between PS and QoL in both fathers and mothers. The PSE of the fathers completely mediated the effect of PS on QoL, while the PSE of the mothers partially mediated the effect of PS on QoL. Further research that explores the factors that affect the QoL of parents and then uses the results to develop interventions to enhance the PSE of parents, especially fathers, is recommended.

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

    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.

  4. Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.

    Burnside, Rachel D; Pasion, Romela; Mikhail, Fady M; Carroll, Andrew J; Robin, Nathaniel H; Youngs, Erin L; Gadi, Inder K; Keitges, Elizabeth; Jaswaney, Vikram L; Papenhausen, Peter R; Potluri, Venkateswara R; Risheg, Hiba; Rush, Brooke; Smith, Janice L; Schwartz, Stuart; Tepperberg, James H; Butler, Merlin G

    2011-10-01

    The proximal long arm of chromosome 15 has segmental duplications located at breakpoints BP1-BP5 that mediate the generation of NAHR-related microdeletions and microduplications. The classical Prader-Willi/Angelman syndrome deletion is flanked by either of the proximal BP1 or BP2 breakpoints and the distal BP3 breakpoint. The larger Type I deletions are flanked by BP1 and BP3 in both Prader-Willi and Angelman syndrome subjects. Those with this deletion are reported to have a more severe phenotype than individuals with either Type II deletions (BP2-BP3) or uniparental disomy 15. The BP1-BP2 region spans approximately 500 kb and contains four evolutionarily conserved genes that are not imprinted. Reports of mutations or disturbed expression of these genes appear to impact behavioral and neurological function in affected individuals. Recently, reports of deletions and duplications flanked by BP1 and BP2 suggest an association with speech and motor delays, behavioral problems, seizures, and autism. We present a large cohort of subjects with copy number alteration of BP1 to BP2 with common phenotypic features. These include autism, developmental delay, motor and language delays, and behavioral problems, which were present in both cytogenetic groups. Parental studies demonstrated phenotypically normal carriers in several instances, and mildly affected carriers in others, complicating phenotypic association and/or causality. Possible explanations for these results include reduced penetrance, altered gene dosage on a particular genetic background, or a susceptibility region as reported for other areas of the genome implicated in autism and behavior disturbances.

  5. 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

    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...

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

    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.

  7. Delayed impacts of developmental exposure to 17-α-ethinylestradiol in the self-fertilizing fish Kryptolebias marmoratus.

    Voisin, Anne-Sophie; Fellous, Alexandre; Earley, Ryan L; Silvestre, Frédéric

    2016-11-01

    . However, 120ng/L exposed fish exhibited significantly higher levels of testosterone at 91 and 168dph and 11-ketotestosterone at 168dph, up to 140days after exposure. These results indicate that early-life exposure to EE2 had both immediate and delayed impacts on the adult's phenotype. While fish growth was impaired during exposure, compensatory growth, reduced fecundity and modification of the endocrine status were observed after exposure ceased. Copyright © 2016 Elsevier B.V. All rights reserved.

  8. Parental Attributions of Control for Child Behaviour and Their Relation to Discipline Practices in Parents of Children with and Without Developmental Delays.

    Jacobs, Myrthe; Marks Woolfson, Lisa; Hunter, Simon C

    2017-01-01

    Children with developmental delays (DD) are at risk for developing behavior problems. Research suggests that parents' causal attributions for child behavior are related to parenting. This study investigated this association in parents of children with DD compared to parents of typically developing (TD) children. It specifically focused on attributions of child control by separating these from attributions of responsibility, blame and intent, and from attributions of parent control and responsibility. Fifty-one parents of children with DD and 69 parents of TD children completed two questionnaires. The Written Analogue Questionnaire measured causal attributions. The Parenting Scale measured dysfunctional discipline practices. Parents of children with DD viewed the child's role in problematic behavior more positively while also viewing misbehavior as more fixed than parents of TD children. Parents of TD children who viewed their child as more in control over misbehavior used less dysfunctional discipline, but this association was not found for parents of children with DD. The results advance understanding of how parents perceive behavior problems in children with DD and the important role these perceptions play in parental behavior management strategies. More importantly, these perceptions relate to discipline practices differently for parents of children with DD compared to parents of TD children, highlighting that parent interventions should be adapted to the specific needs of parents of children with DD.

  9. Gray Matter Heterotopia, Mental Retardation, Developmental Delay, Microcephaly, and Facial Dysmorphisms in a Boy with Ring Chromosome 6: A 10-Year Follow-Up and Literature Review.

    Liu, Shu; Wang, Zhiqing; Wei, Sisi; Liang, Jinqun; Chen, Nuan; OuYang, Haimei; Zeng, Weihong; Chen, Liying; Xie, Xunjie; Jiang, Jianhui

    2018-04-14

    Ring chromosome 6, r(6), is an extremely rare cytogenetic abnormality with clinical heterogeneity which arises typically de novo. The phenotypes of r(6) can be highly variable, ranging from almost normal to severe malformations and neurological defects. Up to now, only 33 cases have been reported in the literature. In this 10-year follow-up study, we report a case presenting distinctive facial features, severe developmental delay, and gray matter heterotopia with r(6) and terminal deletions of 6p25.3 (115426-384174, 268 kb) and 6q26-27 (168697778-170732033, 2.03 Mb) encompassing 2 and 15 candidate genes, respectively, which were detected using G-banding karyotyping, FISH, and chromosomal microarray analysis. We also analyzed the available information on the clinical features of the reported r(6) cases in order to provide more valuable information on genotype-phenotype correlations. To the best of our knowledge, this is the first report of gray matter heterotopia manifested in a patient with r(6) in China, and the deletions of 6p and 6q in our case are the smallest with the precise size of euchromatic material loss currently known. © 2018 S. Karger AG, Basel.

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

    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.

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

    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.

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

    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.

  13. Early prediction of typical outcome and mild developmental delay for prioritisation of service delivery for very preterm and very low birthweight infants: a study protocol

    Caesar, Rebecca; Boyd, Roslyn N; Colditz, Paul; Cioni, Giovani; Ware, Robert S; Salthouse, Kaye; Doherty, Julie; Jackson, Maxine; Matthews, Leanne; Hurley, Tom; Morosini, Anthony; Thomas, Clare; Camadoo, Laxmi; Baer, Erica

    2016-01-01

    Introduction Over 80% of very preterm (development (TD) or mild developmental delay (MDD) in multiple domains. As differentiation between TD and MDD can be difficult, infants with MDD often miss opportunities for intervention. For many clinicians, the ongoing challenge is early detection of MDD without over servicing the population. This study aims to: (1) identify early clinical biomarkers for use in this population to predict and differentiate between TD and MDD at 24 months corrected age. (2) Determine the extent to which family and caregiver factors will contribute to neurodevelopmental and behavioural outcomes. Methods and analysis Participants will be a prospective cohort of 90 infants (Toddler Development—Third Edition (Bayley III). Longitudinal trajectories of early assessment findings will be examined to determine any predictive relationship with motor and cognitive outcomes at 24 months c.a. Published data of a cohort of Australian children assessed with the Bayley III at 24 months c.a will provide a reference group of term-born controls. Ethics Ethical approval has been obtained from the Queensland Children's Health Services Human Research Ethics Committee (HREC/13/QRCH/66), the University of Queensland (2013001019) and the Sunshine Coast Hospital and Health Service, SC-Research Governance (SSA/13/QNB/66). Publication of all study outcomes will be in peer-reviewed journals. Trial registration number ACTRN12614000480684; Pre-results. PMID:27377633

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

    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.

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

    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.

  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

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

    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

  18. 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.

    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

  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

    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. Prevalence and sociodemographic determinants of developmental ...

    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 ...

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

    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...

  2. Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects

    Sakati Nadia

    2011-04-01

    Full Text Available Abstract Background Genomic imbalances of the 12q telomere are rare; only a few patients having 12q24.31-q24.33 deletions were reported. Interestingly none of these were mosaic. Although some attempts have been made to establish phenotype/genotype interaction for the deletions in this region, no clear relationship has been established to date. Results We have clinically screened more than 100 patients with dysmorphic features, mental retardation and normal karyotype using high density oligo array-CGH (aCGH and identified a ~9.2 Mb hemizygous interstitial deletion at the 12q telomere (Chromosome 12: 46,XY,del(12(q24.31q24.33 in a severely developmentally retarded patient having dysmorphic features such as low set ears, microcephaly, undescended testicles, bent elbow, kyphoscoliosis, and micropenis. Parents were found to be not carriers. MLPA experiments confirmed the aCGH result. Interphase FISH revealed mosaicism in cultured peripheral blood lymphocytes. Conclusions Since conventional G-Banding technique missed the abnormality; this work re-confirms that any child with unexplained developmental delay and systemic involvement should be studied by aCGH techniques. The FISH technique, however, would still be useful to further delineate the research work and identify such rare mosaicism. Among the 52 deleted genes, P2RX2, ULK1, FZD10, RAN, NCOR2 STX2, TESC, FBXW8, and TBX3 are noteworthy since they may have a role in observed phenotype.

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

    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.

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

    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

  5. Infant Motor Delay and Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations in Japan.

    Hatakenaka, Yuhei; Kotani, Haruko; Yasumitsu-Lovell, Kahoko; Suzuki, Keita; Fernell, Elisabeth; Gillberg, Christopher

    2016-01-01

    Abnormalities of early motor development have been reported in autism spectrum disorder, attention-deficit/hyperactivity disorder, intellectual developmental disorder, developmental coordination disorder, and other Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations (ESSENCE). However, few studies have been conducted with a view to following up a clinically representative cohort of children coming for assessment of motor delay before age two years. We performed a prospective clinical cohort study to examine whether or not early motor delay is often an indication of ESSENCE. The sample comprised a one-year cohort of all children who came to a Japanese neurodevelopmental center before their second birthday because of delayed or abnormal gross motor development. The children were followed up from the ESSENCE viewpoint. Of the 30 children, 28 (18 boys and 10 girls) (93%) were given diagnoses subsumed under the ESSENCE umbrella. Of the 15 children with an identified or strongly suspected etiology, 13 (8 boys and 5 girls) (87%) had ESSENCE disorders or symptoms. Of the 15 children without a known etiology, all had ESSENCE disorders or symptoms. This study indicated that the vast majority of children with motor delay or abnormality in the first two years of life meet criteria for a disorder within the group of ESSENCE at follow-up; this means that young children, presenting with motor problems always need a broad clinical assessment, not just related to motor function, and systematic follow-up. Copyright © 2016 Elsevier Inc. All rights reserved.

  6. Feedforward motor control in developmental dyslexia and developmental coordination disorder: Does comorbidity matter?

    Cignetti, Fabien; Vaugoyeau, Marianne; Fontan, Aurelie; Jover, Marianne; Livet, Marie-Odile; Hugonenq, Catherine; Audic, Frédérique; Chabrol, Brigitte; Assaiante, Christine

    2018-05-01

    Feedforward and online controls are two facets of predictive motor control from internal models, which is suspected to be impaired in learning disorders. We examined whether the feedforward component is affected in children (8-12 years) with developmental dyslexia (DD) and/or with developmental coordination disorder (DCD) compared to typically developing (TD) children. Children underwent a bimanual unloading paradigm during which a load supported to one arm, the postural arm, was either unexpectedly unloaded by a computer or voluntary unloaded by the subject with the other arm. All children showed a better stabilization (lower flexion) of the postural arm and an earlier inhibition of the arm flexors during voluntary unloading, indicating anticipation of unloading. Between-group comparisons of kinematics and electromyographic activity of the postural arm revealed that the difference during voluntary unloading was between DD-DCD children and the other groups, with the former showing a delayed inhibition of the flexor muscles. Deficit of the feedforward component of motor control may particularly apply to comorbid subtypes, here the DD-DCD subtype. The development of a comprehensive framework for motor performance deficits in children with learning disorders will be achieved only by dissociating key components of motor prediction and focusing on subtypes and comorbidities. Copyright © 2018 Elsevier Ltd. All rights reserved.

  7. Early Intervention in Children with Developmental Disabilities

    Beena Johnson

    2016-01-01

    Full Text Available Developmental disabilities consist of conditions that delay or impair the physical, cognitive, and/or psychological development of children. If not intervened at the earliest, these disabilities will cause significant negative impact on multiple domains of functioning such as learning, language, self-care and capacity for independent living. Common developmental disabilities include autism spectrum disorders, intellectual disabilities, developmental delay and cerebral palsy. About one fourth of young children in developing countries are at risk for or have developmental delay or disabilities. Inadequate stimulation has significant negative impact on physical, socioemotional and cognitive development of children. Hence early scientific intervention programs are necessary in the management of children at risk for developmental delay.

  8. Prime Suspect, Second Row Center

    Laird, Ellen A.

    2011-01-01

    His father had been hacked to death in his own bed with an ax the previous November. His mother was similarly brutalized and left for dead with her husband but survived. On the last Monday of that August, after several months and many investigative twists, turns, and fumbles, there sat the son--the prime suspect--in Ellen Laird's literature class,…

  9. Delayed fission

    Hatsukawa, Yuichi [Japan Atomic Energy Research Inst., Tokai, Ibaraki (Japan). Tokai Research Establishment

    1997-07-01

    Delayed fission is a nuclear decay process that couples {beta} decay and fission. In the delayed fission process, a parent nucleus undergoes {beta} decay and thereby populates excited states in the daughter. If these states are of energies comparable to or greater than the fission barrier of the daughter, then fission may compete with other decay modes of the excited states in the daughter. In this paper, mechanism and some experiments of the delayed fission will be discussed. (author)

  10. Delayed Ejaculation

    ... cases, it is due to a combination of physical and psychological concerns. Psychological causes of delayed ejaculation include: Depression, anxiety or other mental health conditions Relationship problems due to stress, poor communication ...

  11. Delayed growth

    ... Slow rate of growth; Retarded growth and development; Growth delay Images Toddler development References Cooke DW, Divall SA, Radovick S. Normal and aberrant growth in children. In: Melmed S, Polonsky KS, Larsen PR, ...

  12. The reasons for delay lumbar puncture

    MH. Lotfi

    2017-04-01

    Full Text Available Early diagnosis of meningitis and encephalitis and prompt initiation of appropriate therapy is vital and any delay will lead to high mortality and serious and permanent morbidity. The main purpose of this study was to evaluate the management of 220 patients with suspected central nervous system (CNS infections (meningitis and encephalitis to determine the percentage of patients’ suspected CNS infection undergo lumbar puncture in acceptable time (in accordance with conventional algorithms. In this descriptive study, patients with suspected CNS infections admitted to Bu-Ali and Qods hospitals, in the period July 2013 to December 2015 were studied. Information of 220 patients was collected. Continuous variables were summarized as means ± standard deviation and categorical variables as frequencies and percentages. Lumbar puncture (LP in patients was delayed in 200 cases (91%. Most common causes of delay in performing LP were prolongation of the process of determining patient needs to puncture, satisfying patients, CT scan delay and the delay in allowing LP by neurologist. In this study, delaying LP rate was higher than other studies. It seems certain pattern in assistants’ visits for counseling. CT requests and neurologic consultation before LP performed for all adult patients.

  13. Presentation of suspected pediatric uveitis.

    Saeed, Muhammad Usman; Raza, Syed Hamid; Goyal, Sudeshna; Cleary, Gavin; Newman, William David; Chandna, Arvind

    2014-01-01

    Presentation of suspected pediatric uveitis: Pediatric uveitis is usually managed in specialized ophthalmic centers in the UK. Meaningful data acquisition in these clinics may be helpful in clinical governance, and healthcare planning in a specialty that is gradually changing due to changes in treatment choices. Retrospective analysis of prospectively acquired data in the Liverpool pediatric uveitis database was performed. Analysis of our data, based on 147 patients, with a mean age of 10 years, indicated a female to male ratio of 2:1. 99% of patients were Caucasian. Our data indicates 86% of all patients attending the uveitis clinic were diagnosed with juvenile idiopathic arthritis, followed by intermediate uveitis 5% and idiopathic uveitis 4%. 46% of patients required treatment. Systemic treatment included methotrexate (34%), prednisolone (14%), etanercept (6%), ciclosporin (6%), mycophenolate (3%), and infliximab (1%). Severe visual loss (defined by counting fingers or below vision) was seen in 10 eyes despite appropriately treated chronic uveitis. Our data shows uveitis-related ocular morbidity in a predominantly pediatric Caucasian population. Patients with severe and chronic uveitis may experience significant uveitis-related complications and subsequent visual loss despite aggressive treatment.

  14. How useful is gastroesophageal reflux scintigraphy in suspected childhood aspiration

    Fawcett, H.D.; Adams, J.C.; Hayden, C.K.; Swischuk, L.E.

    1988-05-01

    It has been suggested that gastroesophageal reflux scintigraphy might be useful in assisting one in determining therapy for patients suspected of aspirating or becoming apneic secondary to gastroesophageal reflux. This, however, has not been our experience and in reviewing 23 patients with recurrent pneumonia and/or apnea who had gastroesophageal reflux scintigraphy, we were able to detect aspiration in only one. This was especially significant since 13 (59%) of these patients had demonstrable reflux, and of these, eight were treated successfully for suspected aspiration even though none was demonstrated isotopically. To be sure, the demonstration of pulmonary aspiration with gastroesophageal reflux scintigraphy had little influence on patient selection and response to therapy. For this reason we feel there is little justification in depending on the GRS for the specific purpose of trying to document pulmonary aspiration in infants and children who are refluxing. One of the more serious complications of gastroesophageal (GE) reflux is aspiration leading to recurrent pulmonary infections and/or apnea. However, it always has been difficult to demonstrate actual aspiration into the lungs, and to be sure, barium studies of the upper GI tract seldom reveal this complication. Recently, however, considerable interest has been generated in gastroesophageal scintigraphy (GRS) as a possible means of documenting such aspiration. Rationale for this stems from the fact that suspected patients can be studied over a longer period of time and in addition, delayed and overnight images can be obtained. However, our experience does not support GRS as being an adequate method for demonstrating aspiration.

  15. Developmental Scaffolding

    Giorgi, Franco; Bruni, Luis Emilio

    2015-01-01

    . Within the developmental hierarchy, each module yields an inter-level relationship that makes it possible for the scaffolding to mediate the production of selectable variations. Awide range of genetic, cellular and morphological mechanisms allows the scaffolding to integrate these modular variations...... 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...

  16. Guidelines for identifying suspect/counterfeit material

    NONE

    1995-09-01

    These guidelines are intended to assist users of products in identifying: substandard, misrepresented, or fraudulently marked items. The guidelines provide information about such topics as: precautions, inspection and testing, dispositioning identified items, installed inspection and reporting suspect/counterfeit materials. These guidelines apply to users who are developing procurement documents, product acceptance/verification methods, company procedures, work instructions, etc. The intent of these SM guidelines in relation to the Quality Assurance Program Description (QAPD) and implementing company Management Control Procedures is not to substitute or replace existing requirements, as defined in either the QAPD or company implementing instructions (Management Control Procedures). Instead, the guidelines are intended to provide a consolidated source of information addressing the issue of Suspect/Counterfeit materials. These guidelines provide an extensive suspect component listing and suspect indications listing. Users can quickly check their suspect items against the list of manufacturers products (i.e., type, LD. number, and nameplate information) by consulting either of these listings.

  17. Developmental Work

    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...

  18. Interventions for suspected placenta praevia.

    Neilson, J P

    2003-01-01

    . Available data should, however, encourage further work to address the safety of more conservative policies of hospitalisation for women with suspected placenta praevia, and the possible value of insertion of a cervical suture.

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

    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...

  20. Delayed Puberty

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

    2017-01-01

    . The underlying reasons for the large variation in the age at pubertal onset are not fully established; however, nutritional status and socioeconomic and environmental factors are known to be influencing, and a significant amount of influencing genetic factors have also been identified. The challenges...... optimal in discriminating especially CDGP from HH. Management of the delayed puberty depends on the etiology. For boys with CDGP an observational period will often reveal imminent puberty. If puberty is not progressing spontaneously, sex steroid replacement is effective in stimulating the development...

  1. Handbook for Response to Suspect Radioactive Materials

    Cliff, William C.; Pappas, Richard A.; Arthur, Richard J.

    2005-01-01

    This document provides response actions to be performed following the initial port, airport, or border crossing discovery of material that is suspected of being radioactive. The purpose of this guide is to provide actions appropriate for handling radioactive material

  2. 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

    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.

  3. How useful is gastroesophageal reflux scintigraphy in suspected childhood aspiration?

    Fawcett, H.D.; Adams, J.C.; Hayden, C.K.; Swischuk, L.E.

    1988-01-01

    It has been suggested that gastroesophageal reflux scintigraphy might be useful in assisting one in determining therapy for patients suspected of aspirating or becoming apneic secondary to gastroesophageal reflux. This, however, has not been our experience and in reviewing 23 patients with recurrent pneumonia and/or apnea who had gastroesophageal reflux scintigraphy, we were able to detect aspiration in only one. This was especially significant since 13 (59%) of these patients had demonstrable reflux, and of these, eight were treated successfully for suspected aspiration even though none was demonstrated isotopically. To be sure, the demonstration of pulmonary aspiration with gastroesophageal reflux scintigraphy had little influence on patient selection and response to therapy. For this reason we feel there is little justification in depending on the GRS for the specific purpose of trying to document pulmonary aspiration in infants and children who are refluxing. One of the more serious complications of gastroesophageal (GE) reflux is aspiration leading to recurrent pulmonary infections and/or apnea. However, it always has been difficult to demonstrate actual aspiration into the lungs, and to be sure, barium studies of the upper GI tract seldom reveal this complication. Recently, however, considerable interest has been generated in gastroesophageal scintigraphy (GRS) as a possible means of documenting such aspiration. Rationale for this stems from the fact that suspected patients can be studied over a longer period of time and in addition, delayed and overnight images can be obtained. However, our experience does not support GRS as being an adequate method for demonstrating aspiration. (orig.)

  4. Investigation of suspected chronic fatigue syndrome/myalgic encephalopathy.

    Owe, Jone Furlund; Næss, Halvor; Gjerde, Ivar Otto; Bødtker, Jørn Eilert; Tysnes, Ole-Bjørn

    2016-02-09

    Chronic fatigue is a frequently occurring problem in both the primary and specialist health services. The Department of Neurology at Haukeland University Hospital has established a standard assessment for patients referred with suspected CFS/ME. This study reports diagnoses and findings upon assessment, and considers the benefit of supplementary examinations. Diagnoses and findings from examinations of 365 patients assessed for suspected CFS/ME are retrospectively reported. A total of 48 patients (13.2%) were diagnosed with CFS/ME, while a further 18 patients (4.9%) were diagnosed with post-infectious fatigue. Mental and behavioural disorders were diagnosed in 169 patients (46.3%), and these represented by far the largest group. Serious, but unrecognised somatic illness was discovered in two patients, while changes of uncertain significance were identified by MRI and lumbar puncture in a few patients. Fatigue is a frequently occurring symptom in the population. Thorough somatic and psychiatric investigation is necessary before referral to the specialist health services. Mental disorders and reactions to life crises are common and important differential diagnoses for CFS/ME. Long waiting times in the specialist health services may result in delayed diagnosis for these patients.

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

    dlers and young children with developmental delays is ... negate or minimize the negative effect of a disability on ... of text messages to remind people to keep appointments ..... He is learning bad things. ... My other child was not feeling well.

  6. Mutations of PTPN23 in developmental and epileptic encephalopathy

    Sowada, Nadine; Hashem, Mais Omar; Yilmaz, Rü stem; Hamad, Muddathir; Kakar, Naseebullah; Thiele, Holger; Arold, Stefan T.; Bode, Harald; Alkuraya, Fowzan S.; Borck, Guntram

    2017-01-01

    -resistant epilepsy, severe and global developmental delay, microcephaly, and sometimes premature death. PTPN23 encodes a tyrosine phosphatase with strong brain expression, and its knockout in mouse is embryonically lethal. Structural modeling supports a deleterious

  7. The Effect of Cognitive Restructuring on Delay of Gratification.

    Nisan, Mordecai; Koriat, Asher

    1984-01-01

    Two experiments evaluated predictions derived from a cognitive-developmental approach to delay of gratification. In the first, kindergarten children were asked to make a choice between a small immediate and a large delayed reward. In the second, children were presented with either an objective-rational or a subjective-emotional argument…

  8. Delayed cerebral development in twins with congenital hyperthyroidism.

    Kopelman, A E

    1983-09-01

    Twins had congenital hyperthyroidism and delayed cerebral development manifested as ventriculomegaly, increased space in the interhemispheric fissure, and an exaggerated gyral pattern on cranial computed tomographic scans. At 3 1/2 years of age, both children had delayed development. Fetal and neonatal hyperthyroidism may interfere with normal brain growth and maturation with both neuranatomic and developmental sequelae.

  9. Relating gastric scintigraphy and symptoms to motility capsule transit and pressure findings in suspected gastroparesis.

    Hasler, W L; May, K P; Wilson, L A; Van Natta, M; Parkman, H P; Pasricha, P J; Koch, K L; Abell, T L; McCallum, R W; Nguyen, L A; Snape, W J; Sarosiek, I; Clarke, J O; Farrugia, G; Calles-Escandon, J; Grover, M; Tonascia, J; Lee, L A; Miriel, L; Hamilton, F A

    2018-02-01

    Wireless motility capsule (WMC) findings are incompletely defined in suspected gastroparesis. We aimed to characterize regional WMC transit and contractility in relation to scintigraphy, etiology, and symptoms in patients undergoing gastric emptying testing. A total of 209 patients with gastroparesis symptoms at NIDDK Gastroparesis Consortium centers underwent gastric scintigraphy and WMCs on separate days to measure regional transit and contractility. Validated questionnaires quantified symptoms. Solid scintigraphy and liquid scintigraphy were delayed in 68.8% and 34.8% of patients; WMC gastric emptying times (GET) were delayed in 40.3% and showed 52.8% agreement with scintigraphy; 15.5% and 33.5% had delayed small bowel (SBTT) and colon transit (CTT) times. Transit was delayed in ≥2 regions in 23.3%. Rapid transit was rarely observed. Diabetics had slower GET but more rapid SBTT versus idiopathics (P ≤ .02). GET delays related to greater scintigraphic retention, slower SBTT, and fewer gastric contractions (P ≤ .04). Overall gastroparesis symptoms and nausea/vomiting, early satiety/fullness, bloating/distention, and upper abdominal pain subscores showed no relation to WMC transit. Upper and lower abdominal pain scores (P ≤ .03) were greater with increased colon contractions. Constipation correlated with slower CTT and higher colon contractions (P = .03). Diarrhea scores were higher with delayed SBTT and CTT (P ≤ .04). Wireless motility capsules define gastric emptying delays similar but not identical to scintigraphy that are more severe in diabetics and relate to reduced gastric contractility. Extragastric transit delays occur in >40% with suspected gastroparesis. Gastroparesis symptoms show little association with WMC profiles, although lower symptoms relate to small bowel or colon abnormalities. © 2017 John Wiley & Sons Ltd.

  10. Suspected Child Maltreatment: Recognize and Respond

    Kemple, Kristen Mary; Kim, Hae Kyoung

    2011-01-01

    Early childhood educators spend extensive amounts of time with young children, so they are often the first adults to notice signs that a child may be abused or neglected. All educators are required by law to report suspected maltreatment, and can play an important role in preventing and responding to abuse and neglect of young children. What is…

  11. Suspecting Neurological Dysfunction From E Mail Messages ...

    A non medical person suspected and confirmed neurological dysfunction in an individual, based only on e mail messages sent by the individual. With email communication becoming rampant “peculiar” email messages may raise the suspicion of neurological dysfunction. Organic pathology explaining the abnormal email ...

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

    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…

  13. Developmental dyscalculia.

    Kucian, Karin; von Aster, Michael

    2015-01-01

    Numerical skills are essential in our everyday life, and impairments in the development of number processing and calculation have a negative impact on schooling and professional careers. Approximately 3 to 6 % of children are affected from specific disorders of numerical understanding (developmental dyscalculia (DD)). Impaired development of number processing skills in these children is characterized by problems in various aspects of numeracy as well as alterations of brain activation and brain structure. Moreover, DD is assumed to be a very heterogeneous disorder putting special challenges to define homogeneous diagnostic criteria. Finally, interdisciplinary perspectives from psychology, neuroscience and education can contribute to the design for interventions, and although results are still sparse, they are promising and have shown positive effects on behaviour as well as brain function. In the current review, we are going to give an overview about typical and atypical development of numerical abilities at the behavioural and neuronal level. Furthermore, current status and obstacles in the definition and diagnostics of DD are discussed, and finally, relevant points that should be considered to make an intervention as successful as possible are summarized.

  14. Developmental Assessment with Young Children: A Systematic Review of Battelle Studies

    Cunha, Ana C. B.; Berkovits, Michelle D.; Albuquerque, Karolina A.

    2018-01-01

    Developmental assessment scales are important tools for determining developmental delays and planning preventive interventions. One broad assessment scale used to evaluate child development is the Battelle Developmental Inventories (BDIs). The BDI-2 has a standardized version in English with good psychometric properties and a translated version in…

  15. Delayed puberty in girls

    ... sexual development - girls; Pubertal delay - girls; Constitutional delayed puberty ... In most cases of delayed puberty, growth changes just begin later than usual, sometimes called a late bloomer. Once puberty begins, it progresses normally. This pattern runs ...

  16. Delayed Puberty (For Teens)

    ... Safe Videos for Educators Search English Español Delayed Puberty KidsHealth / For Teens / Delayed Puberty What's in this ... wonder if there's anything wrong. What Is Delayed Puberty? Puberty is the time when your body grows ...

  17. Suspects in criminal investigations of rape

    Marinković Darko

    2014-01-01

    Full Text Available Investigations of sexual assaults mostly focus on victims and their credibility, which may cause lack of firm evidence in relation to suspects. Given the fact that the criminal offence of rape is characterised by a high incidence of false reports and accusations, frequently indicating specific persons as the perpetrators, certain caution is necessary in the investigation in order to avoid false accusations and/or convictions. As regards the personality of the rapist and motives for committing a forcible sexual act, certain types or rather certain categories of perpetrators can be distinguished, although it should be noted that a large number of rapists do not belong to one category only, but rather combine characteristics of several different types. During a criminal investigation it is of vital importance to differentiate between a rape as a surprise attack and a rape as abuse of trust, as they are compatible with the nature of the suspect's defence. The suspect shall be subjected to a forensic examination in the course of the investigation in order to find traces which prove vaginal, anal or oral penetration, coerced sexual intercourse and identity of the rapist. While conducting an interrogation of a suspected rapist, a crime investigating officer shall use either factual or emotional approach to his interviewee, depending on his psychological and motivational characteristics. In this regard, the factual approach is believed to be more efficient with anger rapists and sadistic rapists, whereas the compassionate approach gives good results with the gentlemen-rapists and partly with the power asserting rapists.

  18. Magnetic resonance angiography in suspected cerebral vasculitis

    Demaerel, Philippe; De Ruyter, Nele; Wilms, Guido; Maes, Frederik; Velghe, Beatrijs

    2004-01-01

    The purpose of this study was to determine the technical capacity and diagnostic accuracy of 3D time-of-flight magnetic resonance angiography (MRA) in suspected cerebral vasculitis in a retrospective analysis of MRA and digital subtraction angiography (DSA) in 14 young patients with clinical and/or radiological suspicion of cerebral vasculitis. A total of nine arteries were evaluated in each patient. Consensus review of DSA by three observers was the reference standard. The sensitivity for detecting a stenosis varied from 62 to 79% for MRA and from 76 to 94% for DSA, depending on the observer. The specificity for detecting a stenosis varied from 83 to 87% for MRA and from 83 to 97% for DSA. Using the criterion ''more than two stenoses in at least two separate vascular distributions'' to consider the examination as being true positive, the false-positive rates for MRA and DSA were comparable. MRA plays a role as the first angiographical examination in the diagnostic work-up of suspected cerebral vasculitis. When more than two stenoses in at least two separate vascular distributions are depicted on MRA, DSA is not expected to add a significant diagnostic contribution in a patient with suspected cerebral vasculitis. DSA remains necessary when MRA is normal or when less than three stenoses are seen. (orig.)

  19. Magnetic resonance angiography in suspected cerebral vasculitis

    Demaerel, Philippe; De Ruyter, Nele; Wilms, Guido [Department of Radiology, Universitair Ziekenhuis, KU Leuven, 3000, Leuven (Belgium); Maes, Frederik [Department of Medical Imaging Computing, Universitair Ziekenhuis, KU Leuven, 3000, Leuven (Belgium); Velghe, Beatrijs [Department of Radiology, Ziekenhuis Oost-Limburg, Schiepse Bos 6, 3600, Genk (Belgium)

    2004-06-01

    The purpose of this study was to determine the technical capacity and diagnostic accuracy of 3D time-of-flight magnetic resonance angiography (MRA) in suspected cerebral vasculitis in a retrospective analysis of MRA and digital subtraction angiography (DSA) in 14 young patients with clinical and/or radiological suspicion of cerebral vasculitis. A total of nine arteries were evaluated in each patient. Consensus review of DSA by three observers was the reference standard. The sensitivity for detecting a stenosis varied from 62 to 79% for MRA and from 76 to 94% for DSA, depending on the observer. The specificity for detecting a stenosis varied from 83 to 87% for MRA and from 83 to 97% for DSA. Using the criterion ''more than two stenoses in at least two separate vascular distributions'' to consider the examination as being true positive, the false-positive rates for MRA and DSA were comparable. MRA plays a role as the first angiographical examination in the diagnostic work-up of suspected cerebral vasculitis. When more than two stenoses in at least two separate vascular distributions are depicted on MRA, DSA is not expected to add a significant diagnostic contribution in a patient with suspected cerebral vasculitis. DSA remains necessary when MRA is normal or when less than three stenoses are seen. (orig.)

  20. Autopsy case of delayed radiation necrosis of the brain

    Ihara, Katsuo; Otsutomo, Michinori; Takeshita, Gen (Aomori Rosai Hospital (Japan))

    1984-06-01

    A 48-year-old housewife underwent radiation therapy with 5,000 rad of cobalt following surgery for craniopharyngioma. One year later she developed symptoms of increased intracranial pressure, so that recurrence or occurrence of cerebral tumor was suspected. She died two years after the occurrence of the disease and was found to have had delayed radiation necrosis of the brain at autopsy.

  1. Delays in early neuropsychic development: Approaches to diagnosis

    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.

  2. Speech and Language Delay

    ... OTC Relief for Diarrhea Home Diseases and Conditions Speech and Language Delay Condition Speech and Language Delay Share Print Table of Contents1. ... Treatment6. Everyday Life7. Questions8. Resources What is a speech and language delay? A speech and language delay ...

  3. [Reliability and validity of warning signs checklist for screening psychological, behavioral and developmental problems of children].

    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

  4. Vascular factors in suspected normal pressure hydrocephalus

    Agerskov, Simon; Rabiei, Katrin; Marlow, Thomas; Jensen, Christer; Guo, Xinxin; Kern, Silke; Wikkelsø, Carsten; Skoog, Ingmar

    2016-01-01

    Objective: We examined clinical and imaging findings of suspected idiopathic normal pressure hydrocephalus (iNPH) in relation to vascular risk factors and white matter lesions (WMLs), using a nested case-control design in a representative, population-based sample. Methods: From a population-based sample, 1,235 persons aged 70 years or older were examined with CT of the brain between 1986 and 2000. We identified 55 persons with hydrocephalic ventricular enlargement, i.e., radiologic findings consistent with iNPH. Among these, 26 had clinical signs that fulfilled international guideline criteria for probable iNPH. These cases were labeled suspected iNPH. Each case was matched to 5 controls from the same sample, based on age, sex, and study cohort. Data on risk factors were obtained from clinical examinations and the Swedish Hospital Discharge Register. History of hypertension, diabetes mellitus (DM), smoking, overweight, history of coronary artery disease, stroke/TIA, and WMLs on CT were examined. Risk factors associated with iNPH with a p value <0.1 in χ2 tests were included in conditional logistic regression models. Results: In the regression analyses, suspected iNPH was related to moderate to severe WMLs (odds ratio [OR] 5.2; 95% confidence interval [CI]: 1.5–17.6), while hydrocephalic ventricular enlargement was related to hypertension (OR 2.7; 95% CI: 1.1–6.8), moderate to severe WMLs (OR 6.5; 95% CI: 2.1–20.3), and DM (OR 4.3; 95% CI: 1.1–16.3). Conclusions: Hypertension, WMLs, and DM were related to clinical and imaging features of iNPH, suggesting that vascular mechanisms are involved in the pathophysiology. These findings might have implications for understanding disease mechanisms in iNPH and possibly prevention. PMID:26773072

  5. Nuclear Pedigree Criteria of Suspected HNPCC

    Kładny Józef

    2003-01-01

    Full Text Available Abstract The criteria for the diagnosis of HNPCC established by the ICG-HNPCC are very restrictive as they do not allow for the diagnosis of a large number of "suspected HNPCC" cases - these are families which do no fulfill the strict diagnostic "Amsterdam criteria", but do present with several pedigree and clinical features characteristic for HNPCC. Several series of families suspected of harboring germline mutations in DNA mismatch repair genes have been studied for germline changes in DNA mismatch repair genes and a mutation rate of somewhere between 8-60% was found. Therefore a subgroup of members of the ICG-HNPCC has been working on pedigree/clinical diagnostic criteria for suspected HNPCC. Materials and methods Part I The study was based on two series of colorectal cancer (CRC cases: 1 HNPCC - this group comprised 190 patients affected by CRC from randomly selected families which fulfilled the Amsterdam II criteria registered in Düsseldorf, Germany (102 cases of CRC, Denmark (18 CRCs, Leiden, Holland (23 CRCs and Szczecin, Poland (47 CRCs. 2 Consecutive CRCs - this group comprised 629 (78.0% of 806 individuals with CRC diagnosed in 1991-1997 in the city of Szczecin (ca. 400,000 of inhabitants, Poland. Nuclear pedigrees in both groups were compared for frequency of occurrence of clinical features, that have been shown to be associated with HNPCC. Part II 52 consecutive CRC cases from Szczecin, matching the criteria recognized in part I as appropriate for diagnosis of cases "suspected of HNPCC" were studied for the occurrence of germline hMSH2/hMLH1 constitutional mutations using "exon by exon" sequencing. Results The combination of features - i.e. the occurrence of an HNPCC associated cancer (CRC or cancer of the endometrium, small bowel or urinary tract in a 1st degree relative of a CRC patient; at least one of the patients being diagnosed under age of 50 - appeared to be strongly associated to HNPCC with an OR - 161. Constitutional

  6. Diagnostic work-up and loss of tuberculosis suspects in Jogjakarta, Indonesia.

    Ahmad, Riris Andono; Matthys, Francine; Dwihardiani, Bintari; Rintiswati, Ning; de Vlas, Sake J; Mahendradhata, Yodi; van der Stuyft, Patrick

    2012-02-15

    Early and accurate diagnosis of pulmonary tuberculosis (TB) is critical for successful TB control. To assist in the diagnosis of smear-negative pulmonary TB, the World Health Organisation (WHO) recommends the use of a diagnostic algorithm. Our study evaluated the implementation of the national tuberculosis programme's diagnostic algorithm in routine health care settings in Jogjakarta, Indonesia. The diagnostic algorithm is based on the WHO TB diagnostic algorithm, which had already been implemented in the health facilities. We prospectively documented the diagnostic work-up of all new tuberculosis suspects until a diagnosis was reached. We used clinical audit forms to record each step chronologically. Data on the patient's gender, age, symptoms, examinations (types, dates, and results), and final diagnosis were collected. Information was recorded for 754 TB suspects; 43.5% of whom were lost during the diagnostic work-up in health centres, 0% in lung clinics. Among the TB suspects who completed diagnostic work-ups, 51.1% and 100.0% were diagnosed without following the national TB diagnostic algorithm in health centres and lung clinics, respectively. However, the work-up in the health centres and lung clinics generally conformed to international standards for tuberculosis care (ISTC). Diagnostic delays were significantly longer in health centres compared to lung clinics. The high rate of patients lost in health centres needs to be addressed through the implementation of TB suspect tracing and better programme supervision. The national TB algorithm needs to be revised and differentiated according to the level of care.

  7. International Suspect Screening: NORMAN Suspect Exchange meets the US EPA CompTox Chemistry Dashboard (ICCE 2017 Oslo)

    Members of the European NORMAN Network of Environmental Laboratories (www.norman-network.com) have many substance lists, including targets, suspects, surfactants, perfluorinated substances and regulated, partially confidential data sets of complex mixtures. The NORMAN Suspect Lis...

  8. Myocardial delayed-enhancement CT: initial experience in children and young adults

    Goo, Hyun Woo [University of Ulsan College of Medicine, Department of Radiology and Research Institute of Radiology, Asan Medical Center, Seoul (Korea, Republic of)

    2017-10-15

    Clinical utility of myocardial delayed enhancement CT has not been reported in children and young adults. To describe initial experience of myocardial delayed enhancement CT regarding image quality, radiation dose and identification of myocardial lesions in children and young adults. Between August 2013 and November 2016, 29 consecutive children and young adults (median age 16 months) with suspected coronary artery or myocardial abnormality underwent arterial- and delayed-phase cardiac CT at our institution. We measured CT densities in normal myocardium, left ventricular cavity, and arterial and delayed hypo-enhancing and delayed hyperenhancing myocardial lesions. We then compared the extent of delayed hyperenhancing lesions with delayed-enhancement MRI or thallium single-photon emission CT. Normal myocardium and left ventricular cavity showed significantly higher CT numbers on arterial-phase CT than on delayed-phase CT (t-test, P<0.0001). Contrast-to-noise ratios of the arterial and delayed hypo-enhancing and delayed hyperenhancing lesions on CT were 26.7, 17.6 and 18.7, respectively. Delayed-phase CT findings were equivalent to those of delayed-enhancement MRI in all cases (7/7) and to those of thallium single-photon emission CT in 70% (7/10). Myocardial delayed-enhancement CT can be added to evaluate myocardial lesions in select children and young adults with suspected coronary artery or myocardial abnormality. (orig.)

  9. Myocardial delayed-enhancement CT: initial experience in children and young adults

    Goo, Hyun Woo

    2017-01-01

    Clinical utility of myocardial delayed enhancement CT has not been reported in children and young adults. To describe initial experience of myocardial delayed enhancement CT regarding image quality, radiation dose and identification of myocardial lesions in children and young adults. Between August 2013 and November 2016, 29 consecutive children and young adults (median age 16 months) with suspected coronary artery or myocardial abnormality underwent arterial- and delayed-phase cardiac CT at our institution. We measured CT densities in normal myocardium, left ventricular cavity, and arterial and delayed hypo-enhancing and delayed hyperenhancing myocardial lesions. We then compared the extent of delayed hyperenhancing lesions with delayed-enhancement MRI or thallium single-photon emission CT. Normal myocardium and left ventricular cavity showed significantly higher CT numbers on arterial-phase CT than on delayed-phase CT (t-test, P<0.0001). Contrast-to-noise ratios of the arterial and delayed hypo-enhancing and delayed hyperenhancing lesions on CT were 26.7, 17.6 and 18.7, respectively. Delayed-phase CT findings were equivalent to those of delayed-enhancement MRI in all cases (7/7) and to those of thallium single-photon emission CT in 70% (7/10). Myocardial delayed-enhancement CT can be added to evaluate myocardial lesions in select children and young adults with suspected coronary artery or myocardial abnormality. (orig.)

  10. The Domain of Developmental Psychopathology.

    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)

  11. NTP Monograph: Developmental Effects and Pregnancy Outcomes Associated With Cancer Chemotherapy Use During Pregnancy.

    2013-05-01

    The National Toxicology Program (NTP) Office of Health Assessment and Translation (OHAT) conducted an evaluation of the developmental effects and pregnancy outcomes associated with cancer chemotherapy use during pregnancy in humans. The final NTP monograph was completed in May 2013 (available at http:// ntp.niehs.nih.gov/go/36495). The incidence of cancer during pregnancy has been reported to occur from 17 to 100 per 100,000 pregnant women. Chemotherapy is a common treatment for cancer; however, most chemotherapy agents are classified as known or suspected human teratogens. Cancer chemotherapy use during pregnancy was selected for evaluation by the NTP because of the: (1) paucity of comprehensive reviews on the pregnancy outcomes following cancer chemotherapy use during pregnancy in humans, including the integration of the developmental animal toxicology literature with the observational studies in humans, and (2) growing public interest in the developmental effects of chemotherapy on offspring exposed to cancer chemotherapy during gestation due to the expected incidence of cancer diagnosed during pregnancy as women delay pregnancy to later ages. Of the approximately 110 cancer chemotherapeutic agents currently in use, the NTP monograph includes data on 56 agents used during 1,261 pregnancies for which pregnancy outcomes were documented. Overall, the NTP evaluation found that treatment with chemotherapy for cancer appeared to be associated with: (1) a higher rate of major malformations following exposure during the first trimester compared to exposure in the second and/or third trimester; (2) an increase the rate of stillbirth following exposure in the second and/ or third trimester; abnormally low levels of amniotic fluid (primarily attributable to Trastuzumab); and (3), also data are insufficient, impaired fetal growth and myelosuppression. Treatment with chemotherapy for cancer during pregnancy did not appear to increase spontaneous preterm birth, or impair

  12. Believable Suspect Agents: Response and Interpersonal Style Selection for an Artificial Suspect

    Bruijnes, Merijn

    2016-01-01

    The social skills necessary to properly and successfully conduct a police interrogation can and need to be trained. In the thesis I will describe the steps I took towards a virtual character that can play the role of a suspect in a police interrogation training. Students of the police academy will

  13. UAVs and Control Delays

    de Vries, S. C

    2005-01-01

    .... Delays of about 250-300 ms often lead to unacceptable airplane handling qualities. Techniques such as filtering and predictive displays may extend the range of acceptable delays up to about 400 ms...

  14. Delayed puberty in boys

    ... page: //medlineplus.gov/ency/article/007695.htm Delayed puberty in boys To use the sharing features on this page, please enable JavaScript. Delayed puberty in boys is when puberty does not begin ...

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

    urban communities with a focus on early childhood development and FASD. Keywords: .... The level of cognitive and motor development of infants and children, at both time ..... Child Psychology Psychiatry2000; 41: 737-747. 27. Atkinson L ...

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

    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

  17. Visual abilities in students with severe developmental delay

    Welinder, Lotte G; Baggesen, Kirsten L

    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...... 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....

  18. Delayed processing of global shape in developmental prosopagnosia

    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...... 10 subjects with DP and 20 matched controls on Navon's paradigm with compound letters. We also assessed visual attention and object recognition in both groups. The DP-group exhibited a reduced global precedence effect compared with the control group. They were also impaired recognizing silhouette...... 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...

  19. Delay differential systems for tick population dynamics.

    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.

  20. Delayed Orgasm and Anorgasmia

    Jenkins, Lawrence C.; Mulhall, John P.

    2015-01-01

    Delayed orgasm/anorgasmia defined as the persistent or recurrent difficulty, delay in, or absence of attaining orgasm after sufficient sexual stimulation, which causes personal distress. Delayed orgasm and anorgasmia are associated with significant sexual dissatisfaction. A focused medical history can shed light on the potential etiologies; which include: medications, penile sensation loss, endocrinopathies, penile hyperstimulation and psychological etiologies, amongst others. Unfortunately, ...

  1. Exome Sequencing in Suspected Monogenic Dyslipidemias

    Stitziel, Nathan O.; Peloso, Gina M.; Abifadel, Marianne; Cefalu, Angelo B.; Fouchier, Sigrid; Motazacker, M. Mahdi; Tada, Hayato; Larach, Daniel B.; Awan, Zuhier; Haller, Jorge F.; Pullinger, Clive R.; Varret, Mathilde; Rabès, Jean-Pierre; Noto, Davide; Tarugi, Patrizia; Kawashiri, Masa-aki; Nohara, Atsushi; Yamagishi, Masakazu; Risman, Marjorie; Deo, Rahul; Ruel, Isabelle; Shendure, Jay; Nickerson, Deborah A.; Wilson, James G.; Rich, Stephen S.; Gupta, Namrata; Farlow, Deborah N.; Neale, Benjamin M.; Daly, Mark J.; Kane, John P.; Freeman, Mason W.; Genest, Jacques; Rader, Daniel J.; Mabuchi, Hiroshi; Kastelein, John J.P.; Hovingh, G. Kees; Averna, Maurizio R.; Gabriel, Stacey; Boileau, Catherine; Kathiresan, Sekar

    2015-01-01

    Background Exome sequencing is a promising tool for gene mapping in Mendelian disorders. We utilized this technique in an attempt to identify novel genes underlying monogenic dyslipidemias. Methods and Results We performed exome sequencing on 213 selected family members from 41 kindreds with suspected Mendelian inheritance of extreme levels of low-density lipoprotein (LDL) cholesterol (after candidate gene sequencing excluded known genetic causes for high LDL cholesterol families) or high-density lipoprotein (HDL) cholesterol. We used standard analytic approaches to identify candidate variants and also assigned a polygenic score to each individual in order to account for their burden of common genetic variants known to influence lipid levels. In nine families, we identified likely pathogenic variants in known lipid genes (ABCA1, APOB, APOE, LDLR, LIPA, and PCSK9); however, we were unable to identify obvious genetic etiologies in the remaining 32 families despite follow-up analyses. We identified three factors that limited novel gene discovery: (1) imperfect sequencing coverage across the exome hid potentially causal variants; (2) large numbers of shared rare alleles within families obfuscated causal variant identification; and (3) individuals from 15% of families carried a significant burden of common lipid-related alleles, suggesting complex inheritance can masquerade as monogenic disease. Conclusions We identified the genetic basis of disease in nine of 41 families; however, none of these represented novel gene discoveries. Our results highlight the promise and limitations of exome sequencing as a discovery technique in suspected monogenic dyslipidemias. Considering the confounders identified may inform the design of future exome sequencing studies. PMID:25632026

  2. Cost analysis of inappropriate treatments for suspected dermatomycoses

    Emanuela Fiammenghi

    2015-06-01

    Full Text Available Superficial mycoses are estimated to affect more than 20-25% of the world’s population with a consistent increase over the years. Most patients referred to our clinic for suspected dermatomycoses have already been treated with pharmacotherapy, without a previous mycological examination and many show changes in the clinical manifestations. Indeed, some medications, such as steroids, antiviral, antibiotics and antihistamines are not able to erase a fungal infection, but also they can cause atypical clinical manifestations. The consequences of inappropriate treatment include delayed diagnosis, prolonged healing time, and additional costs. The aims of this study were (1 to evaluate the incidence of increased costs attributable to inappropriate therapy sustained by the National Health Service and patients and (2 to highlight the importance of mycological evaluation before starting treatment, in order to improve diagnostic accuracy. An observational retrospective and prospective study was performed from September 2013 to February 2014, in 765 patients referred to our center (University Hospital “ Federico II” in Naples, Italy, for suspected mycological infection. The following treatments (alone or in combination were defined as inappropriate: (1 cortisone in a patient with at least one positive site; (2 antifungals in (a patients with all negative sites or (b ineffective antifungal treatment (in terms of drug chosen, dose or duration in those with all positive sites; or (3 antibiotics; (4 antivirals or (5 antihistamines, in patients with ≥ 1 positive site. Five hundred and fifty patients were using medications before the assessment visit. The total amount of avoidable costs related to inappropriate previous treatments was € 121,417, representing 74% of the total treatment costs. 253/550 patients received drugs also after the visit. For these patients, the cost of treatment prescribed after mycological testing was € 42,952, with a decrease

  3. Should single-phase radionuclide bone imaging be used in suspected osteomyelitis

    Fihn, S.D.; Larson, E.B.; Nelp, W.B.; Rudd, T.G.; Gerber, F.H.

    1984-01-01

    The records of 69 patients who had 86 delayed, static radionuclide bone images for suspected osteomyelitis were studied to determine the effects of this procedure on diagnosis and treatment. Sensitivity, specificity, and positive predictive value were lower than reported in several other studies. When osteomyelitis was unlikely, imaging was either negative or falsely positive and rarely affected treatment. In 46 cases where osteomyelitis was more likely, imaging potentially changed therapy in 19 but was unhelpful or misleading in 15. Static-phase images with ''definite'' interpretations, particularly when negative, are specific, but ''equivocal'' studies may lead to diagnostic and therapeutic errors. When ostemyelitis is improbable, imaging rarely changes diagnosis or therapy

  4. Leaf development and photosynthetic properties of three tropical tree species with delayed greening

    Cai, Z.Q.; Slot, M.; Fan, Z.X.

    2005-01-01

    Leaf developmental patterns were characterized for three tropical tree species with delayed greening. Changes in the pigment contents, photosynthetic capacity, stomata development, photosystem 2 efficiency, rate of energy dissipation, and the activity of partial protective enzymes were followed in

  5. Pre-admission antibiotics for suspected cases of meningococcal disease.

    Sudarsanam, Thambu D; Rupali, Priscilla; Tharyan, Prathap; Abraham, Ooriapadickal Cherian; Thomas, Kurien

    2017-06-14

    Meningococcal disease can lead to death or disability within hours after onset. Pre-admission antibiotics aim to reduce the risk of serious disease and death by preventing delays in starting therapy before confirmation of the diagnosis. To study the effectiveness and safety of pre-admission antibiotics versus no pre-admission antibiotics or placebo, and different pre-admission antibiotic regimens in decreasing mortality, clinical failure, and morbidity in people suspected of meningococcal disease. We searched CENTRAL (6 January 2017), MEDLINE (1966 to 6 January 2017), Embase (1980 to 6 January 2017), Web of Science (1985 to 6 January 2017), LILACS (1982 to 6 January 2017), and prospective trial registries to January 2017. We previously searched CAB Abstracts from 1985 to June 2015, but did not update this search in January 2017. Randomised controlled trials (RCTs) or quasi-RCTs comparing antibiotics versus placebo or no intervention, in people with suspected meningococcal infection, or different antibiotics administered before admission to hospital or confirmation of the diagnosis. Two review authors independently assessed trial quality and extracted data from the search results. We calculated the risk ratio (RR) and 95% confidence interval (CI) for dichotomous data. We included only one trial and so did not perform data synthesis. We assessed the overall quality of the evidence using the GRADE approach. We found no RCTs comparing pre-admission antibiotics versus no pre-admission antibiotics or placebo. We included one open-label, non-inferiority RCT with 510 participants, conducted during an epidemic in Niger, evaluating a single dose of intramuscular ceftriaxone versus a single dose of intramuscular long-acting (oily) chloramphenicol. Ceftriaxone was not inferior to chloramphenicol in reducing mortality (RR 1.21, 95% CI 0.57 to 2.56; N = 503; 308 confirmed meningococcal meningitis; 26 deaths; moderate-quality evidence), clinical failures (RR 0.83, 95% CI 0.32 to

  6. Developmental simulation of the adult cranial morphology of Australopithecus sediba

    Carlson, K.B.; de Ruiter, D.J.; DeWitt, T.J.; McNulty, K.P.; Carlson, K.J.; Tafforeau, P.; Berger, L.R.

    2016-01-01

    The type specimen of Australopithecus sediba (MH1) is a late juvenile, prompting some commentators to suggest that had it lived to adulthood its morphology would have changed sufficiently so as to render hypotheses regarding its phylogenetic relations suspect. Considering the potentially critical position of this species with regard to the origins of the genus Homo, a deeper understanding of this change is especially vital. As an empirical response to this critique, a developmental simulation...

  7. Developmental hip dysplasia in adolescence

    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.

  8. Lineup composition, suspect position, and the sequential lineup advantage.

    Carlson, Curt A; Gronlund, Scott D; Clark, Steven E

    2008-06-01

    N. M. Steblay, J. Dysart, S. Fulero, and R. C. L. Lindsay (2001) argued that sequential lineups reduce the likelihood of mistaken eyewitness identification. Experiment 1 replicated the design of R. C. L. Lindsay and G. L. Wells (1985), the first study to show the sequential lineup advantage. However, the innocent suspect was chosen at a lower rate in the simultaneous lineup, and no sequential lineup advantage was found. This led the authors to hypothesize that protection from a sequential lineup might emerge only when an innocent suspect stands out from the other lineup members. In Experiment 2, participants viewed a simultaneous or sequential lineup with either the guilty suspect or 1 of 3 innocent suspects. Lineup fairness was varied to influence the degree to which a suspect stood out. A sequential lineup advantage was found only for the unfair lineups. Additional analyses of suspect position in the sequential lineups showed an increase in the diagnosticity of suspect identifications as the suspect was placed later in the sequential lineup. These results suggest that the sequential lineup advantage is dependent on lineup composition and suspect position. (c) 2008 APA, all rights reserved

  9. Molecular detection of Orientia tsutsugamushi from suspected scrub typhus cases

    Seethalakshmi Srinivasan

    2017-01-01

    Full Text Available Context: Scrub typhus is an acute febrile illness caused by Orientia tsutsugamushi. The disease is under-diagnosed in India, because of low index of suspicion and also due to its nonspecific presentation, and lack of confirmatory diagnostic tests. Aims: This study was undertaken to diagnose scrub typhus in patients with undifferentiated fevers by serology and molecular methods. Materials and Methods: A total of 68 blood samples were collected from patients clinically suspected to have scrub typhus. After transportation to the laboratory, the serum was separated from the blood and subjected to rapid card test. The ethylenediaminetetraacetic acid blood samples were subjected to DNA extraction using QIAamp DNA Mini Kit followed by nested polymerase chain reaction (nPCR. Results: 24/68 (35.29% cases showed the presence of antibody against scrub typhus by serology. 6/68 (8.8% patients showed the presence of outer membrane protein antigen gene 56 kDa by nPCR. 5/24 serology positive cases showed the presence of 56 kDa outer membrane protein antigen gene by nPCR. A large number of cases positive by serology were negative by PCR which may indicate a low sensitivity of this test either due to low copy numbers or due to excess host DNA. Conclusion: Delay in treatment may increase disease severity and leads to higher mortality. Thus, molecular methods of diagnosis may aid in the early diagnosis of infection and enable prompt treatment. This is the first report on the diagnosis of scrub typhus in the suburbs of Chennai using molecular methods and reemphasizes the need for increased awareness of rickettsial infections in rural areas.

  10. Molecular detection of Orientia tsutsugamushi from suspected scrub typhus cases.

    Srinivasan, Seethalakshmi; Menon, Thangam

    2017-01-01

    Scrub typhus is an acute febrile illness caused by Orientia tsutsugamushi. The disease is under-diagnosed in India, because of low index of suspicion and also due to its nonspecific presentation, and lack of confirmatory diagnostic tests. This study was undertaken to diagnose scrub typhus in patients with undifferentiated fevers by serology and molecular methods. A total of 68 blood samples were collected from patients clinically suspected to have scrub typhus. After transportation to the laboratory, the serum was separated from the blood and subjected to rapid card test. The ethylenediaminetetraacetic acid blood samples were subjected to DNA extraction using QIAamp DNA Mini Kit followed by nested polymerase chain reaction (nPCR). 24/68 (35.29%) cases showed the presence of antibody against scrub typhus by serology. 6/68 (8.8%) patients showed the presence of outer membrane protein antigen gene 56 kDa by nPCR. 5/24 serology positive cases showed the presence of 56 kDa outer membrane protein antigen gene by nPCR. A large number of cases positive by serology were negative by PCR which may indicate a low sensitivity of this test either due to low copy numbers or due to excess host DNA. Delay in treatment may increase disease severity and leads to higher mortality. Thus, molecular methods of diagnosis may aid in the early diagnosis of infection and enable prompt treatment. This is the first report on the diagnosis of scrub typhus in the suburbs of Chennai using molecular methods and reemphasizes the need for increased awareness of rickettsial infections in rural areas.

  11. Reproductive and developmental toxicology

    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...

  12. Maturational delay in ADHD: Evidence from CPT

    Itai eBerger

    2013-10-01

    Full Text Available While data from behavioural, neuropsychological, and brain studies suggested that Attention-Deficit/Hyperactivity Disorder (ADHD is related to a developmental lag that reduces with age, other studies have proposed that ADHD represents a deviant brain function. The present study used a cross-sectional approach to examine whether ADHD children show a developmental delay in cognitive performance measured by continuous performance test (CPT. We thus compared six age groups of ADHD children (N=559 and their unaffected peers (N=365, aged 6-11, in four parameters of MOXO-CPT performance: Attention, Timing, Hyperactivity and Impulsivity. Results have shown that despite improvement in CPT performance with age, ADHD children continued to demonstrate impaired performance as compared to controls. In most parameters, CPT performance of ADHD children matched that of 1-3 years younger normal controls, with a delay most prominent in older children. However, in the Hyperactivity parameter, ADHD children’s performance resembled that of much younger healthy children, with almost no evidence for a developmental catch up. This study suggests that while some cognitive functions develop slower but normally, other functions (e.g., inhibitory control show a different sequel.

  13. Effect of Developmental Stimulation Program on the Developmental Measures of Toddlers

    Elahe Ghayebie

    2018-04-01

    Full Text Available Background: The variability in the developmental skills is reduced after the first three years of life; therefore, it is necessary to identify and manage early developmental delays. Aim: The aim of this study was to investigate the effect of developmental stimulation program on the developmental measures of the toddlers. Method: The present randomized controlled clinical trial was conducted on 31 toddlers aged 1-3 years residing at Ali Asghar Foster Care Center within 2016-2017. Developmental interventions were carried out based on the modified guidelines of West Virginia Early Learning Standards Framework for eight weeks (three 2-hour sessions a week. The interventions included a range of age- and developmental-specific activities described in the given guidelines. Child development age was measured based on motor dimensions (i.e., gross and fine and language development (i.e., receptive and expressive before and after the intervention. The data were analyzed in SPSS software (version 11 using independent t-test and Chi-square test. Results: The mean ages of the participants in the control and intervention groups were 19.9±5.5 and 20±6.02, respectively (P=0.62. The mean ages of receptive language development (P=0.003, expressive language development (P

  14. Delayed orgasm and anorgasmia.

    Jenkins, Lawrence C; Mulhall, John P

    2015-11-01

    Delayed orgasm/anorgasmia defined as the persistent or recurrent difficulty, delay in, or absence of attaining orgasm after sufficient sexual stimulation, which causes personal distress. Delayed orgasm and anorgasmia are associated with significant sexual dissatisfaction. A focused medical history can shed light on the potential etiologies, which include medications, penile sensation loss, endocrinopathies, penile hyperstimulation, and psychological etiologies. Unfortunately, there are no excellent pharmacotherapies for delayed orgasm/anorgasmia, and treatment revolves largely around addressing potential causative factors and psychotherapy. Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

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

    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…

  16. Developmental neurotoxic effects of two pesticides: Behavior and biomolecular studies on chlorpyrifos and carbaryl

    Lee, Iwa; Eriksson, Per; Fredriksson, Anders; Buratovic, Sonja; Viberg, Henrik

    2015-01-01

    In recent times, an increased occurrence of neurodevelopmental disorders, such as neurodevelopmental delays and cognitive abnormalities has been recognized. Exposure to pesticides has been suspected to be a possible cause of these disorders, as these compounds target the nervous system of pests. Due to the similarities of brain development and composition, these pesticides may also be neurotoxic to humans. We studied two different pesticides, chlorpyrifos and carbaryl, which specifically inhibit acetylcholinesterase (AChE) in the nervous system. The aim of the study was to investigate if the pesticides can induce neurotoxic effects, when exposure occurs during a period of rapid brain growth and maturation. The results from the present study show that both compounds can affect protein levels in the developing brain and induce persistent adult behavior and cognitive impairments, in mice neonatally exposed to a single oral dose of chlorpyrifos (0.1, 1.0 or 5 mg/kg body weight) or carbaryl (0.5, 5.0 or 20.0 mg/kg body weight) on postnatal day 10. The results also indicate that the developmental neurotoxic effects induced are not related to the classical mechanism of acute cholinergic hyperstimulation, as the AChE inhibition level (8–12%) remained below the threshold for causing systemic toxicity. The neurotoxic effects are more likely caused by a disturbed neurodevelopment, as similar behavioral neurotoxic effects have been reported in studies with pesticides such as organochlorines, organophosphates, pyrethroids and POPs, when exposed during a critical window of neonatal brain development. - Highlights: • A single neonatal exposure to chlorpyrifos or carbaryl induced developmental neurotoxic effects. • The neurotoxic effects were not caused by acute AChE inhibition. • The neurotoxic effects manifested as altered levels of neuroproteins in the developing brain. • The neurotoxic effects manifested as adult persistent aberrant behavior and cognitive function.

  17. Developmental neurotoxic effects of two pesticides: Behavior and biomolecular studies on chlorpyrifos and carbaryl

    Lee, Iwa; Eriksson, Per; Fredriksson, Anders; Buratovic, Sonja; Viberg, Henrik, E-mail: henrik.viberg@ebc.uu.se

    2015-11-01

    In recent times, an increased occurrence of neurodevelopmental disorders, such as neurodevelopmental delays and cognitive abnormalities has been recognized. Exposure to pesticides has been suspected to be a possible cause of these disorders, as these compounds target the nervous system of pests. Due to the similarities of brain development and composition, these pesticides may also be neurotoxic to humans. We studied two different pesticides, chlorpyrifos and carbaryl, which specifically inhibit acetylcholinesterase (AChE) in the nervous system. The aim of the study was to investigate if the pesticides can induce neurotoxic effects, when exposure occurs during a period of rapid brain growth and maturation. The results from the present study show that both compounds can affect protein levels in the developing brain and induce persistent adult behavior and cognitive impairments, in mice neonatally exposed to a single oral dose of chlorpyrifos (0.1, 1.0 or 5 mg/kg body weight) or carbaryl (0.5, 5.0 or 20.0 mg/kg body weight) on postnatal day 10. The results also indicate that the developmental neurotoxic effects induced are not related to the classical mechanism of acute cholinergic hyperstimulation, as the AChE inhibition level (8–12%) remained below the threshold for causing systemic toxicity. The neurotoxic effects are more likely caused by a disturbed neurodevelopment, as similar behavioral neurotoxic effects have been reported in studies with pesticides such as organochlorines, organophosphates, pyrethroids and POPs, when exposed during a critical window of neonatal brain development. - Highlights: • A single neonatal exposure to chlorpyrifos or carbaryl induced developmental neurotoxic effects. • The neurotoxic effects were not caused by acute AChE inhibition. • The neurotoxic effects manifested as altered levels of neuroproteins in the developing brain. • The neurotoxic effects manifested as adult persistent aberrant behavior and cognitive function.

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

    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

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

    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.

  20. The clinical course of patients with suspected pulmonary embolism

    van Beek, E. J.; Kuijer, P. M.; Büller, H. R.; Brandjes, D. P.; Bossuyt, P. M.; ten Cate, J. W.

    1997-01-01

    BACKGROUND: The outcome of patients with suspected pulmonary embolism is known to a limited extent only. OBJECTIVE: To address this limited knowledge in a cohort in whom pulmonary embolism was proved or ruled out. METHODS: Consecutive patients with clinically suspected pulmonary embolism underwent

  1. 48 CFR 403.303 - Reporting suspected antitrust violations.

    2010-10-01

    ... Antitrust Violations 403.303 Reporting suspected antitrust violations. Contracting officers shall report the circumstances of suspected violations of antitrust laws to the Office of Inspector General in accordance with... antitrust violations. 403.303 Section 403.303 Federal Acquisition Regulations System DEPARTMENT OF...

  2. 48 CFR 1403.303 - Reporting suspected antitrust violations.

    2010-10-01

    ... Antitrust Violations 1403.303 Reporting suspected antitrust violations. (a) Reports on suspected violations of antitrust laws as required by FAR 3.303 shall be prepared by the CO, reviewed by the SOL, and... antitrust violations. 1403.303 Section 1403.303 Federal Acquisition Regulations System DEPARTMENT OF THE...

  3. Detection of Rabies antigen in brains of suspected Rabid dogs ...

    Objective: To detect the presence of rabies antigen in brains of suspected rabid dogs. Materials and Methods: Ninety six (96) brain specimens from suspected rabid dogs were examined for the presence of rabies antigen using Seller's staining technique and enzyme immunoassay. Results: The two techniques were both ...

  4. Selecting foils for identification lineups: matching suspects or descriptions?

    Tunnicliff, J L; Clark, S E

    2000-04-01

    Two experiments directly compare two methods of selecting foils for identification lineups. The suspect-matched method selects foils based on their match to the suspect, whereas the description-matched method selects foils based on their match to the witness's description of the perpetrator. Theoretical analyses and previous results predict an advantage for description-matched lineups both in terms of correctly identifying the perpetrator and minimizing false identification of innocent suspects. The advantage for description-matched lineups should be particularly pronounced if the foils selected in suspect-matched lineups are too similar to the suspect. In Experiment 1, the lineups were created by trained police officers, and in Experiment 2, the lineups were constructed by undergraduate college students. The results of both experiments showed higher suspect-to-foil similarity for suspect-matched lineups than for description-matched lineups. However, neither experiment showed a difference in correct or false identification rates. Both experiments did, however, show that there may be an advantage for suspect-matched lineups in terms of no-pick and rejection responses. From these results, the endorsement of one method over the other seems premature.

  5. Arthroscintigraphy in suspected rotator cuff rupture

    Gratz, S.; Behr, T.; Becker, W.; Koester, G.; Vosshenrich, R.; Grabbe, E.

    1998-01-01

    Aim: In order to evaluate the diagnostic efficiency of arthroscintigraphy in suspected rotator cuff ruptures this new imaging procedure was performed 20 times in 17 patients with clinical signs of a rotator cuff lesion. The scintigraphic results were compared with sonography (n=20), contrast arthrography (n=20) and arthroscopy (n=10) of the shoulder joint. Methods: After performing a standard bone scintigraphy with intravenous application of 300 MBq 99m-Tc-methylene diphosphonate (MDP) for landmarking of the shoulder region arthroscintigraphy was performed after an intraarticular injection of 99m-Tc microcolloid (ALBU-RES 400 μCi/5 ml). The application was performed either in direct combination with contrast arthrography (n=10) or ultrasound conducted mixed with a local anesthetic (n=10). Findings at arthroscopical surgery (n=10) were used as the gold standard. Results: In case of complete rotator cuff rupture (n=5), arthroscintigraphy and radiographic arthrography were identical in 5/5. In one patient with advanced degenerative alterations of the shoulder joint radiographic arthrography incorrectly showed a complete rupture which was not seen by arthroscintigraphy and endoscopy. In 3 patients with incomplete rupture, 2/3 results were consistant. A difference was seen in one patient with a rotator cuff, that has been already revised in the past and that suffered of capsulitis and calcification. Conclusion: Arthroscinitgraphy is a sensitive technique for detection of rotator cuff ruptures. Because of the lower viscosity of the active compound, small ruptures can be easily detected, offering additional value over radiographic arthrography and ultrasound, especially for evaluation of incomplete cuff ruptures. (orig.) [de

  6. Suspected synthetic cannabinoid toxicosis in a dog.

    Williams, Keysa; Wells, Raegan J; McLean, Mary Kay

    2015-01-01

    To describe the effects of suspected synthetic cannabinoid (SC) toxicosis and the response to intravenous lipid emulsion (ILE) therapy in a dog. A 2-year-8-month-old male Boxer dog was evaluated at an emergency hospital for progressive ataxia and inappropriate mentation. The initial physical examination identified marked hypothermia (32.7°C [90.9°F]), intermittent sinus bradycardia (60/min), stuporous mentation with intermittent aggression, and severe ataxia. Neurologic status deteriorated to comatose mentation within 2 hours of presentation. The initial diagnostic evaluation (eg, CBC, serum biochemistry profile, venous blood gas, and electrolyte determination) revealed a respiratory acidosis and thrombocytopenia. The owner reported that the dog was exposed to an SC containing Damiana leaf, Marshmallow leaf, and Athaea leaves. Initial treatment included IV fluids and supplemental oxygen. Mechanical ventilation was provided due to hypoventilation and periods of apnea. Intravenous lipid emulsion therapy was administered as a bolus (1.5 mL/kg) and continued as a continuous rate infusion (0.5 mL/kg/h) for a total of 6 hours. The dog became rousable and was weaned from mechanical ventilation approximately 15 hours following presentation. The dog was eating and walking with no ataxia, had a normal mentation at approximately 33 hours following presentation, and was discharged home at that time. Communication with the owners 5 days following discharge revealed that the dog was apparently normal. Based on this case and other reports in the literature regarding human exposures, SC ingestion may result in more severe clinical signs than marijuana ingestion in dogs. Significant clinical intervention may be necessary. Intravenous lipid emulsion treatment may be beneficial due to the lipophilicity of SC. © Veterinary Emergency and Critical Care Society 2015.

  7. Seasonal variation among tuberculosis suspects in four countries

    Mabaera, Biggie; Naranbat, Nymadawa; Katamba, Achilles

    2009-01-01

    The objective of the study was to analyze monthly trends across a calendar year in tuberculosis suspects and sputum smear-positive cases based on nationally representative samples of tuberculosis laboratory registers from Moldova, Mongolia, Uganda and Zimbabwe. Out of the 47 140 suspects registered...... in the tuberculosis laboratory registers, 13.4% (6312) were cases. The proportion varied from country to country, Moldova having the lowest (9%) and Uganda the highest (21%). From the monthly proportion of suspects and cases among total suspects and cases, seasonal variations were most marked in Mongolia which, among...... attendance to diagnostic laboratory services, evidenced by the contrasting findings of Mongolia (extreme continental northern climate) compared to Uganda (equatorial climate). A combination of external and possibly endogenous factors seems to determine whether tuberculosis suspects and cases present...

  8. High urinary phthalate concentration associated with delayed pubarche in girls

    Frederiksen, H; Sørensen, K; Mouritsen, A

    2012-01-01

    Phthalates are a group of chemicals present in numerous consumer products. They have anti-androgenic properties in experimental studies and are suspected to be involved in human male reproductive health problems. A few studies have shown associations between phthalate exposure and changes...... and controls. We demonstrated that delayed pubarche, but not thelarche, was associated with high phthalate excretion in urine samples from 725 healthy school girls, which may suggest anti-androgenic actions of phthalates in our study group of girls....

  9. An autopsy case of delayed radiation necrosis of the brain

    Ihara, Katsuo; Otsutomo, Michinori; Takeshita, Gen

    1984-01-01

    A 48-year-old housewife underwent radiation therapy with 5,000 rad of cobalt following surgery for craniopharyngioma. One year later she developed symptoms of increased intracranial pressure, so that recurrence or occurrence of cerebral tumor was suspected. She died two years after the occurrence of the disease and was found to have had delayed radiation necrosis of the brain at autopsy. (Namekawa, K.)

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

    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…

  11. Speech Perception and Short-Term Memory Deficits in Persistent Developmental Speech Disorder

    Kenney, Mary Kay; Barac-Cikoja, Dragana; Finnegan, Kimberly; Jeffries, Neal; Ludlow, Christy L.

    2006-01-01

    Children with developmental speech disorders may have additional deficits in speech perception and/or short-term memory. To determine whether these are only transient developmental delays that can accompany the disorder in childhood or persist as part of the speech disorder, adults with a persistent familial speech disorder were tested on speech…

  12. Diagnostic work-up and loss of tuberculosis suspects in Jogjakarta, Indonesia

    Ahmad Riris

    2012-02-01

    Full Text Available Abstract Background Early and accurate diagnosis of pulmonary tuberculosis (TB is critical for successful TB control. To assist in the diagnosis of smear-negative pulmonary TB, the World Health Organisation (WHO recommends the use of a diagnostic algorithm. Our study evaluated the implementation of the national tuberculosis programme's diagnostic algorithm in routine health care settings in Jogjakarta, Indonesia. The diagnostic algorithm is based on the WHO TB diagnostic algorithm, which had already been implemented in the health facilities. Methods We prospectively documented the diagnostic work-up of all new tuberculosis suspects until a diagnosis was reached. We used clinical audit forms to record each step chronologically. Data on the patient's gender, age, symptoms, examinations (types, dates, and results, and final diagnosis were collected. Results Information was recorded for 754 TB suspects; 43.5% of whom were lost during the diagnostic work-up in health centres, 0% in lung clinics. Among the TB suspects who completed diagnostic work-ups, 51.1% and 100.0% were diagnosed without following the national TB diagnostic algorithm in health centres and lung clinics, respectively. However, the work-up in the health centres and lung clinics generally conformed to international standards for tuberculosis care (ISTC. Diagnostic delays were significantly longer in health centres compared to lung clinics. Conclusions The high rate of patients lost in health centres needs to be addressed through the implementation of TB suspect tracing and better programme supervision. The national TB algorithm needs to be revised and differentiated according to the level of care.

  13. American Dream Delayed

    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...

  14. Psychosocial developmental milestones in men with classic galactosemia

    Gubbels, Cynthia Sophia; Maurice-Stam, Heleen; Berry, Gerard Thomas; Bosch, Annet Maria; Waisbren, Susan; Rubio-Gozalbo, Maria Estela; Grootenhuis, Martha Alexandra

    2011-01-01

    Patients with classic galactosemia suffer from several long term effects of their disease. Research in a group of mainly female patients has shown that these patients may also have a developmental delay with regard to their social aptitude. To study if male galactosemia patients achieve psychosocial

  15. Life Span Developmental Approach

    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.

  16. Vowel Patterns in Developmental Apraxia of Speech: Three Longitudinal Case Studies

    Davis, Barbara L.; Jacks, Adam; Marquardt, Thomas P.

    2005-01-01

    Vowel inventories and error patterns for three children with suspected developmental apraxia of speech (DAS) were analysed over a 3-year period using phonetic transcriptions of connected speech samples. The children demonstrated complete English vowel inventories except for rhotics. However, accuracy of vowel targets in connected speech did not…

  17. Delayed power analysis

    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)

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

    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…

  19. Reproductive and developmental toxicology

    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.

  20. Developmental coordination disorder

    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 ...

  1. Facts about Developmental Disabilities

    ... play, learn, speak, behave, and move (for example, crawling and walking). Children develop at their own pace, ... person’s lifetime. Most developmental disabilities begin before a baby is born, but some can happen after birth ...

  2. Neutron delayed choice experiments

    Bernstein, H.J.

    1986-01-01

    Delayed choice experiments for neutrons can help extend the interpretation of quantum mechanical phenomena. They may also rule out alternative explanations which static interference experiments allow. A simple example of a feasible neutron test is presented and discussed. (orig.)

  3. Quad nanosecond delay module

    McDonald, R.J.; Hunter, J.B.; Wozniak, G.J.

    1986-04-01

    Four nanosecond (ns) delay units have been designed to fit in a single-width NIM module. This module is particularly suited for use in conjunction with quad constant fraction timing discriminators (CFTDs) since it has four delay units that can be placed adjacent to the four units of the CFTD. A series of different length cables connected via DIP toggle switches provide delays of 0.60 ns in 4 ns increments. Thus, the CFTD delay can be optimized for pulses of different rise times from approx.10-100 ns. Design work for the PC board and silkscreening of the front panel were done with the MacDraw program on the Apple Mackintosh computer and printed with the Lasewriter printer. 6 refs

  4. Life Span Developmental Approach

    Ali Eryilmaz

    2011-01-01

    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...

  5. Delayed rule following

    Schmitt, David R.

    2001-01-01

    Although the elements of a fully stated rule (discriminative stimulus [SD], some behavior, and a consequence) can occur nearly contemporaneously with the statement of the rule, there is often a delay between the rule statement and the SD. The effects of this delay on rule following have not been studied in behavior analysis, but they have been investigated in rule-like settings in the areas of prospective memory (remembering to do something in the future) and goal pursuit. Discriminative even...

  6. Vernier Delay Unit

    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

  7. Quad precision delay generator

    Krishnan, Shanti; Gopalakrishnan, K.R.; Marballi, K.R.

    1997-01-01

    A Quad Precision Delay Generator delays a digital edge by a programmed amount of time, varying from nanoseconds to microseconds. The output of this generator has an amplitude of the order of tens of volts and rise time of the order of nanoseconds. This was specifically designed and developed to meet the stringent requirements of the plasma focus experiments. Plasma focus is a laboratory device for producing and studying nuclear fusion reactions in hot deuterium plasma. 3 figs

  8. Modelling delays in pharmacokinetics

    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

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

    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

  10. Using Internet Artifacts to Profile a Child Pornography Suspect

    Marcus K. Rogers; Kathryn C. Seigfried-Spellar

    2014-01-01

    Digital evidence plays a crucial role in child pornography investigations. However, in the following case study, the authors argue that the behavioral analysis or “profiling” of digital evidence can also play a vital role in child pornography investigations. The following case study assessed the Internet Browsing History (Internet Explorer Bookmarks, Mozilla Bookmarks, and Mozilla History) from a suspected child pornography user’s computer. The suspect in this case claimed to be conducting an...

  11. Talking heads : interviewing suspects from a cultural perspective

    Beune, K.

    2009-01-01

    Although the literature on the interviewing of suspects has increased over the past decade, research on the use and effectiveness of police strategies and their boundary conditions is very rare. The present dissertation aims to fill this void by identifying behaviors that appeal to and persuade suspects to talk (i.e., influencing behavior), focusing on the effects of such behaviors and their dependency on cultural context (low-context vs. high-context). In doing so, we depart from a theoretic...

  12. Health seeking and access to care for children with suspected dengue in Cambodia: An ethnographic study

    Manderson Lenore

    2007-09-01

    Full Text Available Abstract Background The continuing contribution of dengue fever to the hospitalization and deaths in hospital of infants and small children in Cambodia is associated with delays in presentation for medical attention, diagnosis and appropriate care. It is important to identify the reasons that influence these delays, in order to develop appropriate interventions to redress the impact of dengue. Methods Data on health seeking were collected during an ethnographic study conducted in two villages in the eastern province of Kampong Cham, Cambodia in 2004. Interviews were conducted with mothers whose children had been infected with suspected dengue fever, or who had been sick for other reasons, in 2003 and 2004. Results Women selected a therapeutic option based on perceptions of the severity of the child's condition, confidence in the particular modality, service or practitioner, and affordability of the therapy. While they knew what type of health care was required, poverty in combination with limited availability and perceptions of the poor quality of care at village health centers and public referral hospitals deterred them from doing so. Women initially used home remedies, then sought advice from public and private providers, shifting from one sector to another in a pragmatic response to the child's illness. Conclusion The lack of availability of financial resources for poor people and their continuing lack of confidence in the care provided by government centres combine to delay help seeking and inappropriate treatment of children sick with dengue.

  13. Health seeking and access to care for children with suspected dengue in Cambodia: an ethnographic study.

    Khun, Sokrin; Manderson, Lenore

    2007-09-24

    The continuing contribution of dengue fever to the hospitalization and deaths in hospital of infants and small children in Cambodia is associated with delays in presentation for medical attention, diagnosis and appropriate care. It is important to identify the reasons that influence these delays, in order to develop appropriate interventions to redress the impact of dengue. Data on health seeking were collected during an ethnographic study conducted in two villages in the eastern province of Kampong Cham, Cambodia in 2004. Interviews were conducted with mothers whose children had been infected with suspected dengue fever, or who had been sick for other reasons, in 2003 and 2004. Women selected a therapeutic option based on perceptions of the severity of the child's condition, confidence in the particular modality, service or practitioner, and affordability of the therapy. While they knew what type of health care was required, poverty in combination with limited availability and perceptions of the poor quality of care at village health centers and public referral hospitals deterred them from doing so. Women initially used home remedies, then sought advice from public and private providers, shifting from one sector to another in a pragmatic response to the child's illness. The lack of availability of financial resources for poor people and their continuing lack of confidence in the care provided by government centres combine to delay help seeking and inappropriate treatment of children sick with dengue.

  14. Evaluation of suspected malignant pulmonary lesions with 201Tl single photon emission computed tomography

    Tonami, N.; Yokoyama, K.; Shuke, N.

    1993-01-01

    201 Tl single photo emission computed tomography (SPECT) was evaluated in 170 patients suspected of having a malignant pulmonary lesion greater than 20 mm in diameter on the surgical specimen. Delayed SPECT visualized all of the 147 malignant pulmonary lesions and 16 of the 23 benign pulmonary lesions, and generally exhibited the lesion more clearly than the early SPECT images. There was no significant difference in delayed ratio (uptake ratio of the lesion to the normal lung on delayed scan) among the various histological groups except between the adenocarcinoma and large cell carcinoma groups, and no difference was noted between the malignant and benign lesions. However, in retention index (degree of retention in the lesion) a significant difference was noted between the malignant and benign lesions, although there was no significant difference in this index among malignant different histology groups. These results indicate that this method is useful for visualizing malignant pulmonary lesions greater than 20 mm in diameter to exclude the possibility of malignancy in the lesions when no abnormal 201 Tl accumulation is observed. When the lesion shows abnormal 201 Tl accumulation, the retention index seems to help differentiate malignant from benign lesions. (author)

  15. Interviewing strategically to elicit admissions from guilty suspects.

    Tekin, Serra; Granhag, Pär Anders; Strömwall, Leif; Giolla, Erik Mac; Vrij, Aldert; Hartwig, Maria

    2015-06-01

    In this article we introduce a novel interviewing tactic to elicit admissions from guilty suspects. By influencing the suspects' perception of the amount of evidence the interviewer holds against them, we aimed to shift the suspects' counterinterrogation strategies from less to more forthcoming. The proposed tactic (SUE-Confrontation) is a development of the Strategic Use of Evidence (SUE) framework and aims to affect the suspects' perception by confronting them with statement-evidence inconsistencies. Participants (N = 90) were asked to perform several mock criminal tasks before being interviewed using 1 of 3 interview techniques: (a) SUE-Confrontation, (b) Early Disclosure of Evidence, or (c) No Disclosure of Evidence. As predicted, the SUE-Confrontation interview generated more statement-evidence inconsistencies from suspects than the Early Disclosure interview. Importantly, suspects in the SUE-Confrontation condition (vs. Early and No disclosure conditions) admitted more self-incriminating information and also perceived the interviewer to have had more information about the critical phase of the crime (the phase where the interviewer lacked evidence). The findings show the adaptability of the SUE-technique and how it may be used as a tool for eliciting admissions. (c) 2015 APA, all rights reserved).

  16. Tracheobronchial foreign bodies in children: importance of accurate history and plain chest radiography in delayed presentation

    Tokar, B. E-mail: btokar@ogu.edu.trbarantokar@hotmail.com; Ozkan, R.; Ilhan, H

    2004-07-01

    AIM: To evaluate the factors associated with delayed diagnosis of foreign body aspiration (FBA) in children and to compare clinical, radiological and bronchoscopic findings in the patients with suspected FBA. MATERIAL AND METHODS: The medical records of 214 children who underwent bronchoscopy for suspected FBA were reviewed. The data were analysed in three groups: the patients with negative bronchoscopy for FBA (group I), early (group II) and delayed diagnosis (group III). RESULTS: The majority of the patients with FBA were between 1 and 3 years of age. Choking episodes, coughing and decreased breath sounds were determined in a significantly higher number of the patients with FBA. The plain chest radiography revealed radio-opaque foreign bodies (FBs) in 19.7% of all patients with FBA. Emphysema was more common in children with FBA. Clinical and radiological findings of pneumonia and atelectasis were significantly more common in the groups with negative bronchoscopy and with delayed diagnosis (p<0.01). The FBs were most frequently of vegetable origin, such as seeds and peanuts. A significant tissue reaction with inflammation was more common in the delayed cases. CONCLUSION: To prevent delayed diagnosis, characteristic symptoms, signs and radiological findings of FBA should be checked in all suspected cases. As clinical and radiological findings of FBA in delayed cases may mimic other disorders, the clinician must be aware of the likelihood of FBA. Regardless of radiological findings, bronchoscopy should be considered in patients with an appropriate history.

  17. Transgenerational developmental programming.

    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

  18. Cohort profile: prevalence of valvular heart disease in community patients with suspected heart failure in UK.

    Marciniak, Anna; Glover, Keli; Sharma, Rajan

    2017-01-27

    The aim of this study was to evaluate the proportion of suspected heart failure patients with significant valvular heart disease. Early diagnosis of valve disease is essential as delay can limit treatment and negatively affect prognosis for undiagnosed patients. The prevalence of unsuspected valve disease in the community is uncertain. We prospectively evaluated 79 043 patients, between 2001 and 2011, who were referred to a community open access echocardiography service for suspected heart failure. All patients underwent a standard transthoracic echocardiogram according to British Society of Echocardiography guidelines. Of the total number, 29 682 patients (37.5%) were diagnosed with mild valve disease, 8983 patients (11.3%) had moderate valve disease and 2134 (2.7%) had severe valve disease. Of the total number of patients scanned, the prevalence of aortic stenosis, aortic regurgitation, mitral stenosis, mitral regurgitation was 10%, 8.4%, 1%, and 12.5% respectively. 18% had tricuspid regurgitation. 5% had disease involving one or more valves. Of patients with suspected heart failure in the primary care setting, a significant proportion have important valvular heart disease. These patients are at high risk of future cardiac events and will require onward referral for further evaluation. We recommend that readily available community echocardiography services should be provided for general practitioners as this will result in early detection of valve disease. 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/.

  19. Health seeking behaviour among suspected cases of cholera in Cameroonian health districts in Lake Chad basin.

    Yakum, Martin Ndinakie; Ateudjieu, Jerome; Guenou, Etienne; Walter, Ebile Akoh; Ram, Malathi; Debes, Amanda K; Njimbia, Anthony Chebe; Nafack, Sonia Sonkeng; Sack, David A

    2017-08-30

    Cholera outbreaks are recurrent in Cameroon and despite the efforts put together during epidemics, they are always associated with a high case fatality. Inadequate demand for health care is one of the major factors that might be responsible for the high case fatality. This study was conducted to describe the health seeking behaviour of suspected cases of cholera in four health districts of the Far North Cameroon. We conducted a health facility based descriptive study involving suspected cases of cholera received in health facilities. Data was collected from August 2013 to October 2015 with the help of a questionnaire and analysis done by running frequency and calculating confidence interval at 95% with Epi Info version 3.5.4. A total of 1849 cases were enrolled, with 997 (53.9%) being males. 534 (28.9%) were children under the age of 5 and 942 (50.9%) were above the age of 14. About 373 (20%) of diarrhoeal patients arrived in the health facility more than 2 days following the onset of diarrhoea, with 916 (50%) of them being seriously dehydrated. Also, about 624 (34%) of these patients had sought treatment elsewhere before coming to the health facility where they were enrolled, and about 86% of them did not received ORS. Taking 2 or more days after diarrhoea onset or taking more than 1 h to travel from home to health facility was associated with severe dehydration in patients. The delay between the onset of diarrhoea and seeking treatment from a health provider determines the seriousness of suspected cases of cholera in the Far North Cameroon. While conducting an anthropological study to understand reasons why a health provider is not the first option during diarrhoeal episodes, we recommend that a system of community case detection and reference to health facilities should be put in place during cholera outbreaks to minimize its case fatality rate.

  20. Optimal Joint Expected Delay Forwarding in Delay Tolerant Networks

    Jia Xu; Xin Feng; Wen Jun Yang; Ru Chuan Wang; Bing Qing Han

    2013-01-01

    Multicopy forwarding schemes have been employed in delay tolerant network (DTN) to improve the delivery delay and delivery rate. Much effort has been focused on reducing the routing cost while retaining high performance. This paper aims to provide an optimal joint expected delay forwarding (OJEDF) protocol which minimizes the expected delay while satisfying a certain constant on the number of forwardings per message. We propose a comprehensive forwarding metric called joint expected delay (JE...

  1. Suspected leaking abdominal aortic aneurysm: use of sonography in the emergency room.

    Shuman, W P; Hastrup, W; Kohler, T R; Nyberg, D A; Wang, K Y; Vincent, L M; Mack, L A

    1988-07-01

    To determine the value of sonography in the emergent evaluation of suspected leaking abdominal aortic aneurysms, the authors examined 60 patients in the emergency department using sonography and a protocol involving advance radio notification from the ambulance; arrival of sonographic personnel and equipment in the triage room before patient arrival; and, during other triage activities, rapid sonographic evaluation of the aorta for aneurysm and of the paraaortic region for extraluminal blood. Sonographic findings were correlated with surgical results and clinical outcome. When performed under these circumstances, sonography was accurate in demonstrating presence or absence of aneurysm (98%), but its sensitivity for extraluminal blood was poor (4%). A combination of sonographic confirmation of aneurysm, abdominal pain, and unstable hemodynamic condition resulted in the correct decision to perform emergent surgery in 21 of 22 patients (95%). An abbreviated sonographic examination done in the emergency room can provide accurate, useful information about the presence of aneurysm; this procedure does not significantly delay triage of these patients.

  2. Reading in developmental prosopagnosia

    Starrfelt, Randi; Klargaard, Solja K; Petersen, Anders

    2018-01-01

    exposure durations (targeting the word superiority effect), and d) text reading. RESULTS: Participants with developmental prosopagnosia performed strikingly similar to controls across the four reading tasks. Formal analysis revealed a significant dissociation between word and face recognition......, 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...

  3. Improving the utility of the fine motor skills subscale of the comprehensive developmental inventory for infants and toddlers: a computerized adaptive test.

    Huang, Chien-Yu; Tung, Li-Chen; Chou, Yeh-Tai; Chou, Willy; Chen, Kuan-Lin; Hsieh, Ching-Lin

    2017-07-27

    This study aimed at improving the utility of the fine motor subscale of the comprehensive developmental inventory for infants and toddlers (CDIIT) by developing a computerized adaptive test of fine motor skills. We built an item bank for the computerized adaptive test of fine motor skills using the fine motor subscale of the CDIIT items fitting the Rasch model. We also examined the psychometric properties and efficiency of the computerized adaptive test of fine motor skills with simulated computerized adaptive tests. Data from 1742 children with suspected developmental delays were retrieved. The mean scores of the fine motor subscale of the CDIIT increased along with age groups (mean scores = 1.36-36.97). The computerized adaptive test of fine motor skills contains 31 items meeting the Rasch model's assumptions (infit mean square = 0.57-1.21, outfit mean square = 0.11-1.17). For children of 6-71 months, the computerized adaptive test of fine motor skills had high Rasch person reliability (average reliability >0.90), high concurrent validity (rs = 0.67-0.99), adequate to excellent diagnostic accuracy (area under receiver operating characteristic = 0.71-1.00), and large responsiveness (effect size = 1.05-3.93). The computerized adaptive test of fine motor skills used 48-84% fewer items than the fine motor subscale of the CDIIT. The computerized adaptive test of fine motor skills used fewer items for assessment but was as reliable and valid as the fine motor subscale of the CDIIT. Implications for Rehabilitation We developed a computerized adaptive test based on the comprehensive developmental inventory for infants and toddlers (CDIIT) for assessing fine motor skills. The computerized adaptive test has been shown to be efficient because it uses fewer items than the original measure and automatically presents the results right after the test is completed. The computerized adaptive test is as reliable and valid as the CDIIT.

  4. The Developmental Work

    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...... of the firm and show that the DW is different from mainstream management concepts, as the DW...

  5. Assessing delay discounting in mice

    Mitchell, Suzanne H.

    2014-01-01

    Delay discounting (also intertemporal choice or impulsive choice) is the process by which delayed outcomes, such as delayed food delivery, are valued less than the same outcomes delivered immediately or with a shorter delay. This process is of interest because many psychopathologies, including substance dependence, pathological gambling, attention deficit hyperactivity disorder and conduct disorder, are characterized by heightened levels of delay discounting. Some of these disorders are herit...

  6. Estimating Delays In ASIC's

    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.

  7. Permissible Delay in Payments

    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.

  8. Delayed neutrons in ANSTO

    Wall, T.

    1988-01-01

    Delayed neutron analysis carried out at the Australian Nuclear Scientific and Technology Organization facilities, provides a fast, high sensitivity, low cost, reliable method, particularly suitable for large batches of samples, and for non destructive analysis of a range of materials. While its main use has been in uranium exploration, other applications include archeological investigations, agriculture, oceanography and biology

  9. Developmental Exposure to an Environmental PCB Mixture ...

    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

  10. Developmental Screening Disparities for Languages Other than English and Spanish.

    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. The use of psychoactive prescription drugs among DUI suspects.

    Karjalainen, Karoliina; Haukka, Jari; Lintonen, Tomi; Joukamaa, Matti; Lillsunde, Pirjo

    2015-10-01

    The study seeks to increase understanding of the use of psychoactive prescription drugs among persons suspected of driving under the influence (DUI). We studied whether the use of prescribed psychoactive medication was associated with DUI, and examined the difference in the use of prescription drugs between DUI recidivists and those arrested only once. In this register-based study, persons suspected of DUI (n=29470) were drawn from the Register of DUI suspects, and an age- and gender-matched reference population (n=30043) was drawn from the Finnish general population. Data on prescription drug use was obtained by linkage to the National Prescription Register. The associations of DUI arrest and use of psychoactive prescription drugs in different DUI groups (findings for alcohol only, prescription drugs, prescription drugs and alcohol, illicit drugs) were estimated by using mixed-effect logistic regression. The use of psychoactive prescription drugs and DUI appeared to be strongly associated, with DUI suspects significantly more likely to use psychoactive prescription drugs compared to the reference population. Gender differences existed, with the use of benzodiazepines being more common among female DUI suspects. Moreover, DUI recidivists were more likely to use psychoactive prescription drugs compared to those arrested only once. In addition to alcohol and/or illicit drug use, a significant proportion of DUI suspects were using psychoactive prescription drugs. When prescribing psychoactive medication, especially benzodiazepines, physicians are challenged to screen for possible substance use problems and also to monitor for patients' alcohol or illicit drug use while being medicated. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  12. Arguments from Developmental Order.

    Stöckle-Schobel, Richard

    2016-01-01

    In this article, I investigate a special type of argument regarding the role of development in theorizing about psychological processes and cognitive capacities. Among the issues that developmental psychologists study, discovering the ontogenetic trajectory of mechanisms or capacities underpinning our cognitive functions ranks highly. The order in which functions are developed or capacities are acquired is a matter of debate between competing psychological theories, and also philosophical conceptions of the mind - getting the role and the significance of the different steps in this order right could be seen as an important virtue of such theories. Thus, a special kind of strategy in arguments between competing philosophical or psychological theories is using developmental order in arguing for or against a given psychological claim. In this article, I will introduce an analysis of arguments from developmental order, which come in two general types: arguments emphasizing the importance of the early cognitive processes and arguments emphasizing the late cognitive processes. I will discuss their role in one of the central tools for evaluating scientific theories, namely in making inferences to the best explanation. I will argue that appeal to developmental order is, by itself, an insufficient criterion for theory choice and has to be part of an argument based on other core explanatory or empirical virtues. I will end by proposing a more concerted study of philosophical issues concerning (cognitive) development, and I will present some topics that also pertain to a full-fledged 'philosophy of development.'

  13. Developmental Education Evaluation Model.

    Perry-Miller, Mitzi; And Others

    A developmental education evaluation model designed to be used at a multi-unit urban community college is described. The purpose of the design was to determine the cost effectiveness/worth of programs in order to initiate self-improvement. A needs assessment was conducted by interviewing and taping the responses of students, faculty, staff, and…

  14. Arguments from Developmental Order

    Richard eStöckle-Schobel

    2016-05-01

    Full Text Available In this article, I investigate a special type of argument regarding the role of development in theorising about psychological processes and cognitive capacities. Among the issues that developmental psychologists study, discovering the ontogenetic trajectory of mechanisms or capacities underpinning our cognitive functions ranks highly. The order in which functions are developed or capacities are acquired is a matter of debate between competing psychological theories, and also philosophical conceptions of the mind – getting the role and the significance of the different steps in this order right could be seen as an important virtue of such theories.Thus, a special kind of strategy in arguments between competing philosophical or psychological theories is using developmental order in arguing for or against a given psychological claim. In this article, I will introduce an analysis of arguments from developmental order, which come in two general types: arguments emphasising the importance of the early cognitive processes and arguments emphasising the late cognitive processes. I will discuss their role in one of the central tools for evaluating scientific theories, namely in making inferences to the best explanation. I will argue that appeal to developmental order is, by itself, an insufficient criterion for theory choice and has to be part of an argument based on other core explanatory or empirical virtues. I will end by proposing a more concerted study of philosophical issues concerning (cognitive development, and I will present some topics that also pertain to a full-fledged ‘philosophy of development’.

  15. Developmental paediatric anaesthetic pharmacology

    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. Book Review: Placing the Suspect behind the Keyboard: Using Digital Forensics and Investigative Techniques to Identify Cybercrime Suspects

    Thomas Nash

    2013-06-01

    Full Text Available Shavers, B. (2013. Placing the Suspect behind the Keyboard: Using Digital Forensics and Investigative Techniques to Identify Cybercrime Suspects. Waltham, MA: Elsevier, 290 pages, ISBN-978-1-59749-985-9, US$51.56. Includes bibliographical references and index.Reviewed by Detective Corporal Thomas Nash (tnash@bpdvt.org, Burlington Vermont Police Department, Internet Crime against Children Task Force. Adjunct Instructor, Champlain College, Burlington VT.In this must read for any aspiring novice cybercrime investigator as well as the seasoned professional computer guru alike, Brett Shaver takes the reader into the ever changing and dynamic world of Cybercrime investigation.  Shaver, an experienced criminal investigator, lays out the details and intricacies of a computer related crime investigation in a clear and concise manner in his new easy to read publication, Placing the Suspect behind the Keyboard. Using Digital Forensics and Investigative techniques to Identify Cybercrime Suspects. Shaver takes the reader from start to finish through each step of the investigative process in well organized and easy to follow sections, with real case file examples to reach the ultimate goal of any investigation: identifying the suspect and proving their guilt in the crime. Do not be fooled by the title. This excellent, easily accessible reference is beneficial to both criminal as well as civil investigations and should be in every investigator’s library regardless of their respective criminal or civil investigative responsibilities.(see PDF for full review

  17. An Examination of Specific Child Behavior Problems as Predictors of Parenting Stress among Families of Children with Pervasive Developmental Disorders

    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…

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

    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.

  19. Role of toys in the development and rehabilitation of children with developmental disorders

    Emilia Mikołajewska

    2015-04-01

    Emilia Mikołajewska Rehabilitation Clinic Military Clinical Hospital No. 10 and Polyclinic Bydgoszcz, Poland e-mail: e.mikolajewska@wp.pl, emiliam@cm.umk.pl www: http://emikolajewska.netstrefa.eu   Keywords: rehabilitation; physiotherapy; developmental disorders; toy use; parent–child interaction; patient-therapist relationship.   Abstract   Developmental disorders (called also developmental disabilities are disorders beginning before age 18 and characterized by delay of developmental skills expected to achieve in particular age or developmental stage. Every effort toward new ways of intervention is precious, and achievement of the therapeutical success still constitutes tru challenge. This study aims at assessment how toys can be incorporated into principles of the eclectic approach toward therapy of children with developmental disabilities.

  20. [Developmental dysplasia of the hip in children with a psychomotor disorder. A risk factor for a poor outcome?].

    Pipa-Muñiz, Iván; de Los Llanos Rodríguez-Rodríguez, María; Felgueroso-Juliana, M Blanca; Riera-Campillo, Manuela; González-Herranz, Pedro

    2016-09-01

    Orthopaedic treatment of developmental dysplasia of the hip (DDH) has a high success rate in cases that are diagnosed early. However, the outcomes of these patients are not really known when they are subsequently diagnosed with some type of cerebral impairment. A retrospective observational study was conducted on cases of DDH with a poor outcome after orthopaedic treatment, being unknown if they had any type of psychomotor disorder. The patients were clinically and radiologically assessed, and afterwards received neurological valuation by the Child Neurology Unit. Of the 325 cases of DDH diagnosed in 293 patients, 10 patients (3%) with 16 hips with DDH were diagnosed of any cerebral impairment. All them were initially treated orthopedically. Clinical and radiologically evolution was succesful only in 4 cases (25%) being necessary any surgical procedure in the remaining 12 cases. After surgical treatment we got an improvement in the Acetabular Index (p=0.005) and Reimers Extrusion Index (p=0.042). Neck-shaft angle and Wiberg CE angle also improved but this difference was not statically significant. Cerebral impairment was diagnosed at 2,5 years of age and the begining of walking was delayed at 2.4 years of age. Cerebral impairment can lead to an unfavourable outcome in the treatment of DDH, with the relative risk of a poor outcome being 7.2 times higher in these patients. An unfavourable outcome with conventional treatment of DDH must make us suspect the presence of some type of neurological disorder, particularly if there is a delay in walking. Copyright © 2015 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  1. "DETERMINANTS OF PREHOSPITAL DELAY IN PATIENTS WITH ACUTE MYOCARDIAL INFARCTION"

    M. Alidoosti

    2004-05-01

    Full Text Available Determination of pre-hospital delay time of patients with acute myocardial infarction and seeking ways of speeding up the time for reperfusion is an important factor to lower mortality in these patients. This is a cross-sectional study to determine pre-hospital delay time, its components, and related causes and conditions, obtained in 375 patients with prolonged chest pain referred to four hospitals of Tehran University of Medical Sciences. Means of transport to hospital, reasons of ambulance disuse, decision time by the patient and finally the entire time of pre-hospital delay were specified. Suspected factors related to delays of more than 2 and 6 h were scrutinized with chi-square test. Rate of ambulance utility (18.9% directly correlated with age of patients (P<0.05. Principal motives to disuse ambulance insuccession were unrememberance (33.7%, access to private vehicle (32.8% and supposition of sufficient speed of personal reference (18.9%. Pre-hospital delay time was 8.1 ± 9.1 h (mean ± SD in whole patients and 7.6 ± 9.1 h in those with acute myocardial infarction. Delays of more than 2 and 6 hoccurred in 67.5% and 33.6% of patients, respectively. Decision time constitute three fourth of whole pre-hospital delay and was correlated with female gender, older age, history of diabetes, lower level of literacy and nocturnal onset of symptoms. In conclusion, a significant number of patients with acute myocardial infarction have pre-hospital delay of more than 2 and even 6 h, when golden time for thrombolytic therapy has already been elapsed.

  2. Topological Acoustic Delay Line

    Zhang, Zhiwang; Tian, Ye; Cheng, Ying; Wei, Qi; Liu, Xiaojun; Christensen, Johan

    2018-03-01

    Topological protected wave engineering in artificially structured media is at the frontier of ongoing metamaterials research that is inspired by quantum mechanics. Acoustic analogues of electronic topological insulators have recently led to a wealth of new opportunities in manipulating sound propagation with strikingly unconventional acoustic edge modes immune to backscattering. Earlier fabrications of topological insulators are characterized by an unreconfigurable geometry and a very narrow frequency response, which severely hinders the exploration and design of useful devices. Here we establish topologically protected sound in reconfigurable phononic crystals that can be switched on and off simply by rotating its three-legged "atoms" without altering the lattice structure. In particular, we engineer robust phase delay defects that take advantage of the ultrabroadband reflection-free sound propagation. Such topological delay lines serve as a paradigm in compact acoustic devices, interconnects, and electroacoustic integrated circuits.

  3. Delayed traumatic intracranial hematoma

    Tomita, Hiroki

    1984-01-01

    CT was performed serially within 24 hours after head injury in 64 patients having Glasgow Coma Scale of 14 or less or cranial fracture shown on roentgenogram. Delayed traumatic extradural hematoma was observed within 7-12 hours after head injury in 6 cases (9.4%). This was prominent in the frontal and occipital regions (67%). Good recovery was seen in 83.3%. Delayed traumatic intracerebral hematoma was observed within 6-24 hours after head injury in 17 cases (26.6%). This higher incidence was related to contre coup injury. Conservative treatment was possible in 14 of the 17 patients (82.4%), showing good recovery in 70%. (Namekawa, K.)

  4. Development and Psychometric Evaluation of a Psychosocial Quality-of-Life Questionnaire for Individuals with Autism and Related Developmental Disorders

    Markowitz, Leslie A.; Reyes, Charina; Embacher, Rebecca A.; Speer, Leslie L.; Roizen, Nancy; Frazier, Thomas W.

    2016-01-01

    This study investigated the psychometric properties of the Child and Family Quality of Life scale, a measure of psychosocial quality of life in those with autism and related developmental disorders. Parents of 212 children suspected of autism spectrum disorder completed the Child and Family Quality of Life prior to a diagnostic evaluation. Results…

  5. Differential Diagnosis of Children with Suspected Childhood Apraxia of Speech

    Murray, Elizabeth; McCabe, Patricia; Heard, Robert; Ballard, Kirrie J.

    2015-01-01

    Purpose: The gold standard for diagnosing childhood apraxia of speech (CAS) is expert judgment of perceptual features. The aim of this study was to identify a set of objective measures that differentiate CAS from other speech disorders. Method: Seventy-two children (4-12 years of age) diagnosed with suspected CAS by community speech-language…

  6. Use of budesonide Turbuhaler in young children suspected of asthma

    Bisgaard, H; Pedersen, S; Nikander, K

    1994-01-01

    The question addressed in this study was the ability of young children to use a dry-powder inhaler, Turbuhaler. One hundred and sixty five children suspected of asthma, equally distributed in one year age-groups from 6 months to 8 yrs, inhaled from a Pulmicort Turbuhaler, 200 micrograms budesonide...

  7. Spatial epidemiology of suspected clinical leptospirosis in Sri Lanka.

    Robertson, C; Nelson, T A; Stephen, C

    2012-04-01

    Leptospirosis is one of the most widespread zoonoses in the world. A large outbreak of suspected human leptospirosis began in Sri Lanka during 2008. This study investigated spatial variables associated with suspected leptospirosis risk during endemic and outbreak periods. Data were obtained for monthly numbers of reported cases of suspected clinical leptospirosis for 2005-2009 for all of Sri Lanka. Space-time scan statistics were combined with regression modelling to test associations during endemic and outbreak periods. The cross-correlation function was used to test association between rainfall and leptospirosis at four locations. During the endemic period (2005-2007), leptospirosis risk was positively associated with shorter average distance to rivers and with higher percentage of agriculture made up of farms <0·20 hectares. Temporal correlation analysis of suspected leptospirosis cases and rainfall revealed a 2-month lag in rainfall-case association during the baseline period. Outbreak locations in 2008 were characterized by shorter distance to rivers and higher population density. The analysis suggests the possibility of household transmission in densely populated semi-urban villages as a defining characteristic of the outbreak. The role of rainfall in the outbreak remains to be investigated, although analysis here suggests a more complex relationship than simple correlation.

  8. PMS2 Involvement in Patients Suspected of Lynch Syndrome

    Niessen, Renee C.; Kleibeuker, Jan H.; Westers, Helga; Jager, Paul O. J.; Rozeveld, Dennie; Bos, Krista K.; Boersma-van Ek, Wytske; Hollema, Harry; Sijmons, Rolf H.; Hofstra, Robert M. W.

    It is well-established that germline mutations in the mismatch repair genes MLH1, MSH2, and MSH6 cause Lynch syndrome. However, mutations in these three genes do not account for all Lynch syndrome (suspected) families. Recently, it was shown that germline mutations in another mismatch repair gene,

  9. Correlates and Suspected Causes of Obesity in Children

    Crothers, Laura M.; Kehle, Thomas J.; Bray, Melissa A.; Theodore, Lea A.

    2009-01-01

    The correlates and suspected causes of the intractable condition obesity are complex and involve environmental and heritable, psychological and physical variables. Overall, the factors associated with and possible causes of it are not clearly understood. Although there exists some ambiguity in the research regarding the degree of happiness in…

  10. 48 CFR 3.303 - Reporting suspected antitrust violations.

    2010-10-01

    ... suspect. Paragraph (c) below identifies behavior patterns that are often associated with antitrust... offers; (2) A sudden change from competitive bidding to identical bidding; (3) Simultaneous price... turn in sequence as low bidder, or so that certain competitors bid low only on some sizes of contracts...

  11. Is extended biopsy protocol justified in all patients with suspected ...

    Objective: To determine the significance of an extended 10-core transrectal biopsy protocol in different categories of patients with suspected prostate cancer using digital guidance. Materials and Methods: We studied 125 men who were being evaluated for prostate cancer. They all had an extended 10-core digitally guided ...

  12. A suspected case of Addison's disease in cattle.

    Lambacher, Bianca; Wittek, Thomas

    2015-09-01

    A 4.75-year old Simmental cow was presented with symptoms of colic and ileus. The clinical signs and blood analysis resulted in the diagnosis of suspected primary hypoadrenocorticism (Addison's disease). Although Addison's disease has been frequently described in other domestic mammals, to our knowledge, this disease has not previously been reported in cattle.

  13. Talking heads : interviewing suspects from a cultural perspective

    Beune, K.

    2009-01-01

    Although the literature on the interviewing of suspects has increased over the past decade, research on the use and effectiveness of police strategies and their boundary conditions is very rare. The present dissertation aims to fill this void by identifying behaviors that appeal to and persuade

  14. 48 CFR 903.303 - Reporting suspected antitrust violations.

    2010-10-01

    ... as described in FAR 3.301, and antitrust law violations as described in FAR 3.303, evidenced in bids... antitrust violations. 903.303 Section 903.303 Federal Acquisition Regulations System DEPARTMENT OF ENERGY GENERAL IMPROPER BUSINESS PRACTICES AND PERSONAL CONFLICTS OF INTEREST Reports of Suspected Antitrust...

  15. Suspected infection in afebrile patients : Are they septic?

    Martins, Fernanda de Souza; Guedes, Gisele Giuliane; Santos, Thiago Martins; de Carvalho-Filho, Marco A

    We prospectively evaluated afebrile patients admitted to an emergency department (ED), with suspected infection and only tachycardia or tachypnea.The white blood cell count (WBC) was obtained, and patients were considered septic if leukocyte count was >12,000 μL-1 or <4000 μL-1 or with >10% of band

  16. Cognitive Linguistic Performances of Multilingual University Students Suspected of Dyslexia

    Lindgren, Signe-Anita; Laine, Matti

    2011-01-01

    High-performing adults with compensated dyslexia pose particular challenges to dyslexia diagnostics. We compared the performance of 20 multilingual Finnish university students with suspected dyslexia with 20 age-matched and education-matched controls on an extensive test battery. The battery tapped various aspects of reading, writing, word…

  17. Lineup Composition, Suspect Position, and the Sequential Lineup Advantage

    Carlson, Curt A.; Gronlund, Scott D.; Clark, Steven E.

    2008-01-01

    N. M. Steblay, J. Dysart, S. Fulero, and R. C. L. Lindsay (2001) argued that sequential lineups reduce the likelihood of mistaken eyewitness identification. Experiment 1 replicated the design of R. C. L. Lindsay and G. L. Wells (1985), the first study to show the sequential lineup advantage. However, the innocent suspect was chosen at a lower rate…

  18. Pathologically confirmed autoimmune encephalitis in suspected Creutzfeldt-Jakob disease

    Maat, P.; de Beukelaar, J.W.; Jansen, C.; Schuur, M.; van Duijn, C.M.; van Coevorden, M.H.; de Graaff, E.; Titulaer, E.; Rozemuller, A.J.M.; Sillevis Smitt, P.

    2015-01-01

    Objective: To determine the clinical features and presence in CSF of antineuronal antibodies in patients with pathologically proven autoimmune encephalitis derived from a cohort of patients with suspected Creutzfeldt-Jakob disease (CJD). Methods: The Dutch Surveillance Centre for Prion Diseases

  19. DNA typing from vaginal smear slides in suspected rape cases

    Dayse Aparecida da Silva

    Full Text Available In an investigation of suspected rape, proof of sexual assault with penetration is required. In view of this, detailed descriptions of the genitalia, the thighs and pubic region are made within the forensic medical service. In addition, vaginal swabs are taken from the rape victim and some of the biological material collected is then transferred to glass slides. In this report, we describe two rape cases solved using DNA typing from cells recovered from vaginal smear slides. In 1999, two young women informed the Rio de Janeiro Police Department that they had been victims of sexual assaults. A suspect was arrested and the victims identified him as the offender. The suspect maintained that he was innocent. In order to elucidate these crimes, vaginal smear slides were sent to the DNA Diagnostic Laboratory for DNA analysis three months after the crimes, as unique forensic evidence. To get enough epithelial and sperm cells to perform DNA analysis, we used protocols modified from the previously standard protocols used for DNA extraction from biological material fixed on glass slides. The quantity of cells was sufficient to perform human DNA typing using nine short tandem repeat (STR loci. It was 3.3 billion times more probable that it was the examined suspect who had left sperm cells in the victims, rather than any other individual in the population of Rio de Janeiro.

  20. Risk Factors and Bacterial Profile of Suspected Neonatal ...

    Neonatal septicaemia is a common cause of morbidity and mortality in developing countries and a major health concern. The aim of this study is to evaluate the bacterial profile, antibiotics susceptibility pattern and associated risk factors of suspected septicaemia in neonates in this locality. Five hundred and forty seven ...

  1. Is extended biopsy protocol justified in all patients with suspected ...

    2012-01-03

    Jan 3, 2012 ... Objective: To determine the significance of an extended 10-core transrectal biopsy protocol in different categories of patients with suspected prostate cancer using digital guidance. Materials and Methods: We studied 125 men who were being evaluated for prostate cancer. They all had an extended.

  2. Suspected pulmonary tuberculosis in rural South Africa - Sputum ...

    Three (125%) of the 24 patients with a discharge diagnosis other than TB (17 pneumonia, 3 old TB, 2 carcinoma of the lung, 1 bronchiectasis) turned out to have TB within the follow-up period; 2 of those had extrapulmonary TB Conclusion, SI produced a positive smear result in 29% of patients with suspected TB who had ...

  3. Time-Delay Interferometry

    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.

  4. A developmental perspective on neuroeconomic mechanisms of contingency management.

    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

  5. Delays in initiation of acyclovir therapy in herpes simplex encephalitis.

    Hughes, Peter S; Jackson, Alan C

    2012-09-01

    Diagnosis of herpes simplex encephalitis (HSE) is based on clinical findings, MRI, and detection of herpes simplex virus (HSV) DNA in cerebrospinal fluid (CSF) using polymerase chain reaction amplification. Delays in starting treatment are associated with poorer clinical outcomes. We assessed the timing of initiation of acyclovir therapy in HSE. Inpatient databases from seven hospitals in Winnipeg, Manitoba were used to identify individuals diagnosed with encephalitis and HSE from 2004 to 2009. The time taken to initiate therapy with acyclovir and the reasons for delays were determined. Seventy-seven patients were identified; 69 (90%) received acyclovir; in the others a non-HSV infection was strongly suspected. Thirteen patients were subsequently confirmed to have HSE. Acyclovir was initiated a median of 21 hours (3-407) after presentation in encephalitis cases, and a median of 11 hours (3-118) in HSE. The most common reason for delay was a failure to consider HSE in the differential diagnosis, despite suggestive clinical features. Where therapy was delayed in HSE patients, the decision to begin acyclovir was prompted by transfer of the patient to a different service (55%), recommendations by consultants (18%), imaging results (18%), and CSF pleocytosis (9%). Delays in initiating acyclovir for HSE are common, and are most often due to a failure to consider HSE in a timely fashion on presentation. In order to improve patient outcomes, physicians should be more vigilant for HSE, and begin acyclovir therapy expeditiously on the basis of clinical suspicion rather than waiting for confirmatory tests.

  6. NIDCAP and developmental care

    Dominique Haumont

    2014-06-01

    Full Text Available Perinatal mortality in very low birth weight infants has dramatically decreased during the last decades. However, 15-25% of these infants will show neurodevelopmental impairment later on. The aim of implementing early developmental care (EDC, emerged as a new field in neonatology, is to create an intervention program designed to provide support for optimal neurobehavioral development during this highly vulnerable period of brain growth. The theoretical framework, which underlies the approach, is supported by research in different scientific fields, including neuroscience, psychology, medicine and nursing. EDC utilizes a range of medical and nursing interventions that aim to decrease the stress of preterm neonates in neonatal intensive care units (NICUs. The Neonatal Individualized Developmental Care Assessment Program (NIDCAP is an integrated and holistic form of family-centered developmental care. Changing the traditional NICU towards an EDC-NICU includes training nursing and medical staff, investing in their quality and most importantly keeping parents in proximity to the infants. The new challenge of modern neonatology is to restore the mother-infant dyad applying “couplet care” starting at birth until discharge. Most of the European NICUs apply some elements of EDC, but it is more consistent in northern Europe. The development of NIDCAP training centers in Europe demonstrates the evolution of care. It is likely that future research and intervention programs will optimize our practices. Developmental care could prove to be an important recent step in improving outcome in extremely preterm neonates. Proceedings of the 10th International Workshop on Neonatology · Cagliari (Italy · October 22nd-25th, 2014 · The last ten years, the next ten years in Neonatology Guest Editors: Vassilios Fanos, Michele Mussap, Gavino Faa, Apostolos Papageorgiou

  7. Unexpected Coexisting Myocardial Infarction Detected by Delayed Enhancement MRI

    Edouard Gerbaud

    2009-01-01

    Full Text Available We report a case of an unexpected coexisting anterior myocardial infarction detected by delayed enhancement MRI in a 41-year-old man following a presentation with a first episode of chest pain during inferior acute myocardial infarction. This second necrotic area was not initially suspected because there were no ECG changes in the anterior leads and the left descending coronary artery did not present any significant stenoses on emergency coronary angiography. Unrecognised myocardial infarction may carry important prognostic implications. CMR is currently the best imaging technique to detect unexpected infarcts.

  8. Speech and language delay in children: A review and the role of a pediatric dentist

    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.

  9. Evolutionary and developmental modules.

    Lacquaniti, Francesco; Ivanenko, Yuri P; d'Avella, Andrea; Zelik, Karl E; Zago, Myrka

    2013-01-01

    The identification of biological modules at the systems level often follows top-down decomposition of a task goal, or bottom-up decomposition of multidimensional data arrays into basic elements or patterns representing shared features. These approaches traditionally have been applied to mature, fully developed systems. Here we review some results from two other perspectives on modularity, namely the developmental and evolutionary perspective. There is growing evidence that modular units of development were highly preserved and recombined during evolution. We first consider a few examples of modules well identifiable from morphology. Next we consider the more difficult issue of identifying functional developmental modules. We dwell especially on modular control of locomotion to argue that the building blocks used to construct different locomotor behaviors are similar across several animal species, presumably related to ancestral neural networks of command. A recurrent theme from comparative studies is that the developmental addition of new premotor modules underlies the postnatal acquisition and refinement of several different motor behaviors in vertebrates.

  10. Pre-school children with suspected autism spectrum disorders: do girls and boys have the same profiles?

    Andersson, Gunilla Westman; Gillberg, Christopher; Miniscalco, Carmela

    2013-01-01

    The male to female ratio is raised in autism spectrum disorders (ASD). Previous studies have suggested that girls with ASD have more problems with communication than boys, but boys show more repetitive behaviours than girls. In this study, 20 girls, 1.8-3.9 years of age were matched for chronological and developmental age with 20 boys with suspected ASD. All the children were recruited after population screening and referral by Child Health Care Services to a specialised neuropsychiatry clinic, where they underwent comprehensive neuropsychiatric assessments. Comparisons were made with regard to diagnosis, developmental profiles and global disability. No significant gender differences were found. There were strong correlations between results obtained in different developmental areas. The results suggest that either (1) previous studies finding clear gender differences may have overrated discrepancies between girls and boys in ASD, or that (2) there may be girls, who will not be identified in the early years with our current screening instruments. More research with a much larger population representative study samples is required. Copyright © 2012 Elsevier Ltd. All rights reserved.

  11. Comparison of clinically suspected injuries with injuries detected at whole-body CT in suspected multi-trauma victims

    Shannon, L.; Peachey, T.; Skipper, N.; Adiotomre, E.; Chopra, A.; Marappan, B.; Kotnis, N.

    2015-01-01

    Aim: To assess the accuracy of the trauma team leader's clinical suspicion of injury in patients who have undergone whole-body computed tomography (WBCT) for suspected polytrauma, and to assess the frequency of unsuspected injuries and specific patterns of injury at WBCT. Materials and methods: Requests for patients who underwent WBCT for suspected polytrauma from April 2011 to March 2014 were reviewed and each body area that was clinically suspected to be injured was recorded. Body areas were divided into the following groups based on anatomical regions covered in each segment of the WBCT examination: head (including facial bones); neck (including cervical spine); chest (including thoracic spine); and abdomen/pelvis (including lumbar spine). The formal radiology report for each study was reviewed and injuries found at CT were grouped into the same body areas. For each patient, the number of clinically suspected injured areas was compared to the number of confirmed injured areas at WBCT. Results: Five hundred and eighty-eight patients were included in the study. Thirty-two percent (186/588) had a normal scan. Ninety-three percent (546/588) had fewer injured body areas at WBCT than suspected. Four percent (27/588) had the equivalent number of injured areas at WBCT as suspected. Three percent (15/588) had more injured areas at WBCT than suspected. Fifty percent (263/527) with clinically suspected chest injuries were confirmed to have chest injuries at WBCT. This was lower for other areas: abdomen/pelvis 31% (165/535); head 29% (155/533); neck 13% (66/513). Four percent of (24/588) patients had unsuspected injuries found at WBCT. Seventy-five percent (18/24) of unsuspected injuries were considered as serious, where failure to treat would have the potential for significant morbidity. Most of these patients had severe injuries to other body areas that were correctly suspected. Of the 165 with abdominal/pelvic region injuries, there were associated injuries in the

  12. Routes to Diagnosis for Suspected Sarcoma: The Impact of Symptoms and Clinical Findings on the Diagnostic Process

    Heidi Buvarp Dyrop

    2016-01-01

    Full Text Available Background and Objectives. Sarcoma patients often experience delay before diagnosis. We examined the association between presenting symptoms/signs and time intervals for suspected sarcoma patients. Methods. 545 consecutive patients suspected for sarcoma referred over a one-year period were included. Median time intervals in routes to diagnosis were collected from medical records and questionnaires. Results. 102 patients (18.7% had a sarcoma; 68 (12.5% had other malignancies. Median interval for the patient (time from first symptom to first doctor visit, primary care, local hospital, sarcoma center, diagnostic, and total interval for sarcoma patients were 77, 17, 29, 17, 65, and 176 days, respectively. Sarcoma patients visited more hospital departments and had longer median primary care (+10 days and diagnostic intervals (+19 days than patients with benign conditions. Median primary care (−19 days and sarcoma center (−4 days intervals were shorter for patients with a lump versus no lump. Median patient (+40 days, primary care (+12 days, diagnostic (+17 days, and total intervals (+78 days were longer for patients presenting with pain versus no pain. GP suspicion of malignancy shortened local hospital (−20 days and total intervals (−104 days. Conclusions. The main part of delay could be attributed to the patient and local hospitals. Length of time intervals was associated with presenting symptoms/signs and GP suspicion.

  13. Delayed child-bearing.

    Johnson, Jo-Ann; Tough, Suzanne

    2012-01-01

    To provide an overview of delayed child-bearing and to describe the implications for women and health care providers. Delayed child-bearing, which has increased greatly in recent decades, is associated with an increased risk of infertility, pregnancy complications, and adverse pregnancy outcome. This guideline provides information that will optimize the counselling and care of Canadian women with respect to their reproductive choices. Maternal age is the most important determinant of fertility, and obstetric and perinatal risks increase with maternal age. Many women are unaware of the success rates or limitations of assisted reproductive technology and of the increased medical risks of delayed child-bearing, including multiple births, preterm delivery, stillbirth, and Caesarean section. This guideline provides a framework to address these issues. Studies published between 2000 and August 2010 were retrieved through searches of PubMed and the Cochrane Library using appropriate key words (delayed child-bearing, deferred pregnancy, maternal age, assisted reproductive technology, infertility, and multiple births) and MeSH terms (maternal age, reproductive behaviour, fertility). The Internet was also searched using similar key words, and national and international medical specialty societies were searched for clinical practice guidelines and position statements. Data were extracted based on the aims, sample, authors, year, and results. The quality of evidence was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table 1). The Society of Obstetricians and Gynaecologists of Canada. RECOMMENDATIONS 1. Women who delay child-bearing are at increased risk of infertility. Prospective parents, especially women, should know that their fecundity and fertility begin to decline significantly after 32 years of age. Prospective parents should know that assisted reproductive technologies cannot guarantee a live birth or completely

  14. Delayed speech development in children: Introduction to terminology

    M. Yu. Bobylova

    2017-01-01

    Full Text Available There has been recently an increase in the number of children diagnosed with delayed speech development. There is delay compensation with age, but mild deficiency often remains for life. Delayed speech development is more common in boys than in girls. Its etiology is unknown in most cases, so a child should be followed up to make an accurate diagnosis. Genetic predisposition or environmental factors frequently influence speech development. The course of its delays is various. In the history of a number of disorders (childhood disintegrative disorder, Landau–Kleffner syndrome, there is evidence for the normal development of speech to a certain period and then stops or even regresses. By way of comparison, there are generally speech developmental changes in autism even during the preverbal stage (a complex of revival fails to form; babbling is poor, low emotional, gibberish; at the same time, the baby recipes whole phrases without using them to communicate. These speech disorders are considered not only as a delay, but also as a developmental abnormality. Speech disorders in children should be diagnosed as early as possible in order to initiative corrective measures in time. In this case, a physician makes a diagnosis and a special education teacher does corrective work. The successful collaboration and mutual understanding of the specialists in these areas will determine quality of life for a child in the future. This paper focusses on the terminology and classification of delays, which are necessary for physicians and teachers to speak the same language.

  15. Delaying information search

    Yaniv Shani

    2012-11-01

    Full Text Available In three studies, we examined factors that may temporarily attenuate information search. People are generally curious and dislike uncertainty, which typically encourages them to look for relevant information. Despite these strong forces that promote information search, people sometimes deliberately delay obtaining valuable information. We find they may do so when they are concerned that the information might interfere with future pleasurable activities. Interestingly, the decision to search or to postpone searching for information is influenced not only by the value and importance of the information itself but also by well-being maintenance goals related to possible detrimental effects that negative knowledge may have on unrelated future plans.

  16. Vehicle barrier with access delay

    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.

  17. Delayed rule following.

    Schmitt, D R

    2001-01-01

    Although the elements of a fully stated rule (discriminative stimulus [S(D)], some behavior, and a consequence) can occur nearly contemporaneously with the statement of the rule, there is often a delay between the rule statement and the S(D). The effects of this delay on rule following have not been studied in behavior analysis, but they have been investigated in rule-like settings in the areas of prospective memory (remembering to do something in the future) and goal pursuit. Discriminative events for some behavior can be event based (a specific setting stimulus) or time based. The latter are more demanding with respect to intention following and show age-related deficits. Studies suggest that the specificity with which the components of a rule (termed intention) are stated has a substantial effect on intention following, with more detailed specifications increasing following. Reminders of an intention, too, are most effective when they refer specifically to both the behavior and its occasion. Covert review and written notes are two effective strategies for remembering everyday intentions, but people who use notes appear not to be able to switch quickly to covert review. By focusing on aspects of the setting and rule structure, research on prospective memory and goal pursuit expands the agenda for a more complete explanation of rule effects.

  18. Pseudotumoral delayed cerebral radionecrosis

    Ciaudo-Lacroix, C.; Lapresle, J.

    1985-01-01

    A 60 year-old woman with a scalp epithelioma underwent radiotherapy, the dose being 57 Gray. A first epileptic seizure occurred twenty months later. Neurological examination revealed signs of left hemisphere involvement. γEG, angiography, CT scans, demonstrated a pseudotumoral avascular process. On account of the localisation, the patient being right-handed, no surgical procedure was performed. In spite of corticotherapy and anticonvulsive treatment, seizures recurred and neurological signs slowly progressed. The patient died, 22 months after the first seizure, of an associated disseminated carcinoma with cachexia. Neuropathological examination showed a massive lesion presenting all the features of delayed radionecrosis in the left hemisphere: situated mainly in the white matter; numerous vascular abnormalities; wide-spread demyelination; disappearance of oligoglial cells. The Authors recall the clinical and anatomical aspects of this condition for which the only successful treatment is surgical removal when location and size of the lesion permit. Finally, the mechanisms which have been proposed to explain this delayed cerebral radionecrosis are discussed [fr

  19. Pseudotumoral delayed cerebral radionecrosis

    Ciaudo-Lacroix, C; Lapresle, J [Centre Hospitalier de Bicetre, 94 - Le Kremlin-Bicetre (France)

    1985-01-01

    A 60 year-old woman with a scalp epithelioma underwent radiotherapy, the dose being 57 Gray. A first epileptic seizure occurred twenty months later. Neurological examination revealed signs of left hemisphere involvement. ..gamma..EG, angiography, CT scans, demonstrated a pseudotumoral avascular process. On account of the localisation, the patient being right-handed, no surgical procedure was performed. In spite of corticotherapy and anticonvulsive treatment, seizures recurred and neurological signs slowly progressed. The patient died, 22 months after the first seizure, of an associated disseminated carcinoma with cachexia. Neuropathological examination showed a massive lesion presenting all the features of delayed radionecrosis in the left hemisphere: situated mainly in the white matter; numerous vascular abnormalities; wide-spread demyelination; disappearance of oligoglial cells. The Authors recall the clinical and anatomical aspects of this condition for which the only successful treatment is surgical removal when location and size of the lesion permit. Finally, the mechanisms which have been proposed to explain this delayed cerebral radionecrosis are discussed.

  20. Methods for Characterisation of unknown Suspect Radioactive Samples

    Sahagia, M.; Grigorescu, E.L.; Luca, A.; Razdolescu, A.C.; Ivan, C.

    2001-01-01

    Full text: The paper presents various identification and measurement methods, used for the expertise of a wide variety of suspect radioactive materials, whose circulation was not legally stated. The main types of examined samples were: radioactive sources, illegally trafficked; suspect radioactive materials or radioactively contaminated devices; uranium tablets; fire detectors containing 241 Am sources; osmium samples containing radioactive 185 Os or enriched 187 Os. The types of analyses and determination methods were as follows: the chemical composition was determined by using identification reagents or by neutron activation analysis; the radionuclide composition was determined by using gamma-ray spectrometry; the activity and particle emission rates were determined by using calibrated radiometric equipment; the absorbed dose rate at the wall of all types of containers and samples was determined by using calibrated dose ratemeters. The radiation exposure risk for population, due to these radioactive materials, was evaluated for every case. (author)

  1. Cholescintigraphy and ultrasonography in patients suspected of having acute cholecystitis

    Lauritsen, K B; Sommer, W; Hahn, L

    1988-01-01

    The diagnostic power of combined cholescintigraphy and ultrasonography was tested in 67 patients suspected of having acute cholecystitis; of these, 42 (63%) had acute cholecystitis. The predictive value of a positive scintigraphy (PVpos) was 95% and that of a negative (PVneg) was 91% (n = 67......). The PVpos and PVneg of ultrasonography were 89% and 75%, respectively (n = 54), and these values did not achieve statistical significance when compared with those for scintigraphy. Inconclusive tests were 10% and 11%, respectively, but in no patient were both scintigraphy and ultrasonography inconclusive...... that in patients suspected of having acute cholecystitis cholescintigraphy should be the first diagnostic procedure performed. If the scintigraphy is positive, additional ultrasonographic detection of gallstones makes the diagnosis almost certain. If one diagnostic modality is inconclusive, the other makes a fair...

  2. Interdisciplinary action of nurses to children with suspected sexual abuse

    Lia Leão Ciuffo

    2014-04-01

    Full Text Available Objective. Understanding the role of nurses as members of interdisciplinary teams in the care of children with suspected sexual abuse. Methodology. This is a qualitative research based on the sociological phenomenology of Alfred Schutz. In 2008 were interviewed eleven nurses who worked in reference institutions for the care of child victims of sexual abuse in Rio de Janeiro. Results. The category called 'Interacting with other professionals in child care' emerged from the analysis of performance of professionals. The intersubjective relations between the nurses and the interdisciplinary team will enable to understand the intent of care from the perspective of social, emotional and psychological needs of children and their families. Conclusion. Interdisciplinarity favored the development of actions based on acceptance, listening and agreements on possible solutions in the care of children with suspected sexual abuse.

  3. Incidence of clinically suspected venous thromboembolism in British Indian patients.

    Siddiqui, B M; Patel, M S; Rudge, S; Best, A; Mangwani, J

    2018-05-01

    Introduction Venous thromboembolism (VTE) remains a major public health issue around the world. Ethnicity is known to alter the incidence of VTE. To our knowledge, there are no reports in the literature investigating the incidence of VTE in British Indians. The aim of this study was to investigate the rates of symptomatic VTE in British Indian patients in the UK. Methods Patients referred to our institution between January 2011 and August 2013 with clinically suspected VTE were eligible for inclusion in the study. Those not of British Indian or Caucasian ethnicity were excluded. A retrospective review of these two cohorts was conducted. Results Overall, 15,529 cases were referred to our institution for suspected VTE. This included 1,498 individuals of British Indian ethnicity. Of these, 182 (12%) had confirmed VTE episodes. A further 13,159 of the patients with suspected VTE were coded as Caucasian, including 2,412 (16%) who had confirmed VTE events. VTE rates were a third lower in British Indians with clinically suspected VTE than in the equivalent Caucasian group. The British Indian cohort presented with VTE at a much earlier age than Caucasians (mean 57.0 vs 68.0 years). Conclusions This study suggests that British Indian patients have a lower incidence of VTE and are more likely to present at an earlier age than Caucasians. There was no significant difference in VTE type (deep vein thrombosis vs pulmonary embolism) among the ethnic groups. Clinicians should be aware of variations within ethnicities but should continue to adhere to existing VTE prevention guidance.

  4. Spinal cord magnetic resonance imaging in suspected multiple sclerosis

    Lycklama a Nijeholt, G.J.; Bergers, E.; Castelijns, J.A.; Barkhof, F.; Uitdehaag, B.M.J.; Polman, C.H.

    2000-01-01

    We examined the value of spinal cord magnetic resonance imaging (MRI) in the diagnostic work-up of multiple sclerosis (MS). Forty patients suspected of having MS were examined within 24 months after the start of symptoms. Disability was assessed, and symptoms were categorized as either brain or spinal cord. Work-up further included cerebrospinal fluid analysis and standard proton-density, T2-, and T1-weighted gadolinium-enhanced brain and spinal cord MRI. Patients were categorized as either clinically definite MS (n = 13), laboratory-supported definite MS (n = 14), or clinically probable MS (n = 4); four patients had clinically probable MS, and in nine MS was suspected. Spinal cord abnormalities were found in 35 of 40 patients (87.5 %), consisting of focal lesions in 31, only diffuse abnormalities in two, and both in two. Asymptomatic spinal cord lesions occurred in six patients. All patients with diffuse spinal cord abnormality had clear spinal cord symptoms and a primary progressive disease course. In clinically definite MS, the inclusion of spinal imaging increased the sensitivity of MRI to 100 %. Seven patients without a definite diagnosis had clinically isolated syndromes involving the spinal cord. Brain MRI was inconclusive, while all had focal spinal cord lesions which explained symptoms and ruled out other causes. Two other patients had atypical brain abnormalities suggesting ischemic/vascular disease. No spinal cord abnormalities were found, and during follow-up MS was ruled out. Spinal cord abnormalities are common in suspected MS, and may occur asymptomatic. Although diagnostic classification is seldom changed, spinal cord imaging increases diagnostic sensitivity of MRI in patients with suspected MS. In addition, patients with primary progressive MS may possibly be earlier diagnosed. Finally, differentiation with atypical lesions may be improved. (orig.)

  5. Interviewing strategically to elicit admissions from guilty suspects

    Tekin, Serra; Granhag, Pär Anders; Strömwall, Leif; Giolla, Erik Mac; Vrij, Aldert; Hartwig, Maria

    2015-01-01

    In this article we introduce a novel interviewing tactic to elicit admissions from guilty suspects. By influencing the suspects’ perception of the amount of evidence the interviewer holds against them, we aimed to shift the suspects’ counterinterrogation strategies from less to more forthcoming. The proposed tactic (SUE-Confrontation) is a development of the Strategic Use of Evidence (SUE) framework and aims to affect the suspects’ perception by confronting them with statement-evidence incons...

  6. Creating fair lineups for suspects with distinctive features

    Zarkadi, Theodora; Wade, Kimberley A.; Stewart, Neil

    2009-01-01

    In their descriptions, eyewitnesses often refer to a culprit's distinctive facial features. However, in a police lineup, selecting the only member with the described distinctive feature is unfair to the suspect and provides the police with little further information. For fair and informative lineups, the distinctive feature should be either replicated across foils or concealed on the target. In the present experiments, replication produced more correct identifications in target-present lineup...

  7. Percutaneous cholecystocentesis in cats with suspected hepatobiliary disease.

    Byfield, Victoria L; Callahan Clark, Julie E; Turek, Bradley J; Bradley, Charles W; Rondeau, Mark P

    2017-12-01

    Objectives The objective was to evaluate the safety and diagnostic utility of percutaneous ultrasound-guided cholecystocentesis (PUC) in cats with suspected hepatobiliary disease. Methods Medical records of 83 cats with suspected hepatobiliary disease that underwent PUC were retrospectively reviewed. Results At the time of PUC, at least one additional procedure was performed in 79/83 cats, including hepatic aspiration and/or biopsy (n = 75) and splenic aspiration (n = 18). Complications were noted in 14/83 cases, including increased abdominal fluid (n = 11), needle-tip occlusion (n = 1), failed first attempt to penetrate the gall bladder wall (n = 1) and pneumoperitoneum (n = 1). There were no reports of gall bladder rupture, bile peritonitis or hypotension necessitating treatment with vasopressor medication. Blood products were administered to 7/83 (8%) cats. Seventy-two cats (87%) survived to discharge. Of the cats that were euthanized (9/83) or died (2/83), none were reported as a definitive consequence of PUC. Bacteria were identified cytologically in 10/71 samples (14%); all 10 had a positive aerobic bacterial culture. Bile culture was positive in 11/80 samples (14%). Of the cases with a positive bile culture, cytological description of bacteria corresponded to the organism cultured in fewer than 50% of cases. The most common cytologic diagnosis was hepatic lipidosis (49/66). The most common histopathologic diagnosis was cholangitis (10/21). Conclusions and relevance PUC was safe in this group of cats with suspected hepatobiliary disease. Complications were likely associated with ancillary procedures performed at the time of PUC. Bile analysis yielded an abnormal result in nearly one-third of cats with suspected hepatobiliary disease. Complete agreement between bile cytology and culture was lacking. Further evaluation of the correlation between bile cytology and bile culture is warranted.

  8. MRI for clinically suspected pediatric appendicitis: an implemented program

    Moore, Michael M.; Gustas, Cristy N.; Choudhary, Arabinda K.; Methratta, Sosamma T.; Hulse, Michael A.; Eggli, Kathleen D.; Boal, Danielle K.B. [Penn State Milton S. Hershey Medical Center, Department of Radiology, Mail Code H066, 500 University Drive, P.O. Box 850, Hershey, PA (United States); Geeting, Glenn [Penn State Milton S. Hershey Medical Center, Department of Emergency Medicine, Hershey, PA (United States)

    2012-09-15

    Emergent MRI is now a viable alternative to CT for evaluating appendicitis while avoiding the detrimental effects of ionizing radiation. However, primary employment of MRI in the setting of clinically suspected pediatric appendicitis has remained significantly underutilized. To describe our institution's development and the results of a fully implemented clinical program using MRI as the primary imaging evaluation for children with suspected appendicitis. A four-sequence MRI protocol consisting of coronal and axial single-shot turbo spin-echo (SS-TSE) T2, coronal spectral adiabatic inversion recovery (SPAIR), and axial SS-TSE T2 with fat saturation was performed on 208 children, ages 3 to 17 years, with clinically suspected appendicitis. No intravenous or oral contrast material was administered. No sedation was administered. Data collection includes two separate areas: time parameter analysis and MRI diagnostic results. Diagnostic accuracy of MRI for pediatric appendicitis indicated a sensitivity of 97.6% (CI: 87.1-99.9%), specificity 97.0% (CI: 93.2-99.0%), positive predictive value 88.9% (CI: 76.0-96.3%), and negative predictive value 99.4% (CI: 96.6-99.9%). Time parameter analysis indicated clinical feasibility, with time requested to first sequence obtained mean of 78.7 +/- 52.5 min, median 65 min; first-to-last sequence time stamp mean 14.2 +/- 8.8 min, median 12 min; last sequence to report mean 57.4 +/- 35.2 min, median 46 min. Mean age was 11.2 +/- 3.6 years old. Girls represented 57% of patients. MRI is an effective and efficient method of imaging children with clinically suspected appendicitis. Using an expedited four-sequence protocol, sensitivity and specificity are comparable to CT while avoiding the detrimental effects of ionizing radiation. (orig.)

  9. MRI for clinically suspected pediatric appendicitis: case interpretation

    Moore, Michael M.; Brian, James M.; Methratta, Sosamma T.; Hulse, Michael A.; Choudhary, Arabinda K.; Eggli, Kathleen D.; Boal, Danielle K.B.

    2014-01-01

    As utilization of MRI for clinically suspected pediatric appendicitis becomes more common, there will be increased focus on case interpretation. The purpose of this pictorial essay is to share our institution's case interpretation experience. MRI findings of appendicitis include appendicoliths, tip appendicitis, intraluminal fluid-debris level, pitfalls of size measurements, and complications including abscesses. The normal appendix and inguinal appendix are also discussed. (orig.)

  10. MRI for clinically suspected pediatric appendicitis: case interpretation

    Moore, Michael M.; Brian, James M.; Methratta, Sosamma T.; Hulse, Michael A.; Choudhary, Arabinda K.; Eggli, Kathleen D.; Boal, Danielle K.B. [Penn State Milton S. Hershey Medical Center, Division of Pediatric Radiology, Department of Radiology, Hershey, PA (United States)

    2014-05-15

    As utilization of MRI for clinically suspected pediatric appendicitis becomes more common, there will be increased focus on case interpretation. The purpose of this pictorial essay is to share our institution's case interpretation experience. MRI findings of appendicitis include appendicoliths, tip appendicitis, intraluminal fluid-debris level, pitfalls of size measurements, and complications including abscesses. The normal appendix and inguinal appendix are also discussed. (orig.)

  11. The frequency of peritoneal tuberculosis using diagnostic laparoscopy in clinically suspected cases

    Sattar, Z.; Iqbal, M.

    2014-01-01

    Introduction: Diagnostic laparoscopy allows the visual examination and documentation of intra-abdominal organs in order to detect any pathology. It is an important tool for final minimally invasive exploration of patients with abdominal tuberculosis, the diagnosis of which remains uncertain despite employing the requisite laboratory and non-invasive imaging investigations. Objective: To determine the frequency of peritoneal tuberculosis using diagnostic laparoscopy in clinically suspected cases of peritoneal tuberculosis. Study Design: Cross sectional survey. Setting: The study was conducted in all the four Surgical Wards on surgical floor of Mayo Hospital Lahore. Duration of Study with Dates: Six months (1st July 2009 to 31st December 2009). Material and Methods: 35 Patients aged between 13-60 years with clinical suspicion of peritoneal tuberculosis were selected. The patients underwent the procedure accordingly. Per operative diagnosis of peritoneal tuberculosis made on the basis of presence of any or all of the operative (laparoscopic) findings such as multiple peritoneal adhesions, fibrous bands, whitish peritoneal tubercles, omental thickening and ascites. Diagnosis was confirmed with histopathology of peritoneal tissue biopsy. Also the biochemical analysis and culture sensitivity of ascetic fluid was routinely performed if any ascites is present. Results: Out of 35 patients, 40% were males and 60% females with mean age of 24.91+-6.69 years. The Laparoscopic findings of peritoneal tuberculosis were whitish peritoneal tubercles (57.2%) peritoneal adhesions (28.6%), ascites (17.2%), omental thickening (14.3%), fibrous bands (11.4%) and swollen edematous appendix (5.7%). Eighty percent were labeled with diagnosis of peritoneal tuberculosis on basis of diagnostic laparoscopy. These patients were confirmed to have peritoneal tuberculosis on histopathology of tissue biopsy. Conclusion: Diagnostic laparoscopy is useful in patients with suspected peritoneal

  12. Treatment with epinephrine (adrenaline) in suspected anaphylaxis during anesthesia in Denmark.

    Garvey, Lene H; Belhage, Bo; Krøigaard, Mogens; Husum, Bent; Malling, Hans-Jørgen; Mosbech, Holger

    2011-07-01

    Literature on the use of epinephrine in the treatment of anaphylaxis during anesthesia is very limited. The objective of this study was to investigate how often epinephrine is used in the treatment of suspected anaphylaxis during anesthesia in Denmark and whether timing of treatment is important. A retrospective study of 270 patients investigated at the Danish Anaesthesia Allergy Centre after referral due to suspected anaphylaxis during anesthesia was performed. Reactions had been graded by severity: C1, mild reactions; C2, moderate reactions; C3, anaphylactic shock with circulatory instability; C4, cardiac arrest. Use of epinephrine, dosage, route of administration, and time between onset of circulatory instability and epinephrine administration were noted. A total of 122 (45.2%) of referred patients had C3 or C4 reactions; of those, 101 (82.8%) received epinephrine. Route of administration was intravenous in 95 (94%) patients. Median time from onset of reported hypotension to treatment with epinephrine was 10 min (range, 1-70 min). Defining epinephrine treatment less than or equal to 10 min after onset of hypotension as early, and more than 10 min as late, infusion was needed in 12 of 60 patients (20%) treated early versus 12 of 35 patients (34%) treated late (odds ratio, 2.09) (95% confidence interval, 0.81-5.35). Anaphylaxis may be difficult to diagnose during anesthesia, and treatment with epinephrine can be delayed as a consequence. Anaphylaxis should be considered and treated in patients with circulatory instability during anesthesia of no apparent cause who do not respond to the usual treatments.

  13. The economics of cardiac biomarker testing in suspected myocardial infarction.

    Goodacre, Steve; Thokala, Praveen

    2015-03-01

    Suspected myocardial infarction (MI) is a common reason for emergency hospital attendance and admission. Cardiac biomarker measurement is an essential element of diagnostic assessment of suspected MI. Although the cost of a routinely available biomarker may be small, the large patient population and consequences in terms of hospital admission and investigation mean that the economic impact of cardiac biomarker testing is substantial. Economic evaluation involves comparing the estimated costs and effectiveness (outcomes) of two or more interventions or care alternatives. This process creates some difficulties with respect to cardiac biomarkers. Estimating the effectiveness of cardiac biomarkers involves identifying how they help to improve health and how we can measure this improvement. Comparison to an appropriate alternative is also problematic. New biomarkers may be promoted on the basis of reducing hospital admission or length of stay, but hospital admission for low risk patients may incur significant costs while providing very little benefit, making it an inappropriate comparator. Finally, economic evaluation may conclude that a more sensitive biomarker strategy is more effective but, by detecting and treating more cases, is also more expensive. In these circumstances it is unclear whether we should use the more effective or the cheaper option. This article provides an introduction to health economics and addresses the specific issues relevant to cardiac biomarkers. It describes the key concepts relevant to economic evaluation of cardiac biomarkers in suspected MI and highlights key areas of uncertainty and controversy. Copyright © 2014 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

  14. Does this adult patient with suspected bacteremia require blood cultures?

    Coburn, Bryan; Morris, Andrew M; Tomlinson, George; Detsky, Allan S

    2012-08-01

    Clinicians order blood cultures liberally among patients in whom bacteremia is suspected, though a small proportion of blood cultures yield true-positive results. Ordering blood cultures inappropriately may be both wasteful and harmful. To review the accuracy of easily obtained clinical and laboratory findings to inform the decision to obtain blood cultures in suspected bacteremia. A MEDLINE and EMBASE search (inception to April 2012) yielded 35 studies that met inclusion criteria for evaluating the accuracy of clinical variables for bacteremia in adult immunocompetent patients, representing 4566 bacteremia and 25,946 negative blood culture episodes. Data were extracted to determine the prevalence and likelihood ratios (LRs) of findings for bacteremia. The pretest probability of bacteremia varies depending on the clinical context, from low (eg, cellulitis: 2%) to high (eg, septic shock: 69%). Elevated temperatures alone do not accurately predict bacteremia (for ≥38°C [>100.3°F], LR, 1.9 [95% CI, 1.4-2.4]; for ≥38.5°C [>101.2°F], LR, 1.4 [95% CI, 1.1-2.0]), nor does isolated leukocytosis (LR, cultures should not be ordered for adult patients with isolated fever or leukocytosis without considering the pretest probability. SIRS and the decision rule may be helpful in identifying patients who do not need blood cultures. These conclusions do not apply to immunocompromised patients or when endocarditis is suspected.

  15. Autism spectrum disorder symptoms in juvenile suspects of sex offenses.

    't Hart-Kerkhoffs, Lisette A; Jansen, Lucres M; Doreleijers, Theo A; Vermeiren, Robert; Minderaa, Ruud B; Hartman, Catharina A

    2009-02-01

    To investigate autism spectrum disorder (ASD) symptoms in juvenile suspects of sex offenses. A group of 175 juvenile suspected sex offenders (all males, mean +/- SD age = 14.9 +/- 1.4 years) was compared with a matched healthy control group (N = 500, mean +/- SD age = 14.0 +/- 1.4 years) and a group of children with DSM-IV-diagnosed ASD (N = 114, mean +/- SD age = 14.2 +/- 1.9 years) with respect to autistic symptoms as measured by means of a standardized questionnaire, the Children's Social Behavior Questionnaire. Furthermore, specific subgroups of sexual offenders, i.e., child molesters, solo peer offenders, and group offenders, were compared with regard to levels of ASD symptoms. The study was conducted from May 2003 to December 2006. Significantly higher levels of ASD symptoms were found in juvenile sex offenders than in healthy controls, while levels were lower than in the ASD group (F = 148.259, p symptoms than group offenders (F = 5.127, p symptoms are higher in juvenile suspects of sex offenses as compared to the healthy population, which argues for considering specific diagnostic assessment in this population, especially in solo offenders and child molesters. Copyright 2009 Physicians Postgraduate Press, Inc.

  16. Police officers' perceptions and experiences with mentally disordered suspects.

    Oxburgh, Laura; Gabbert, Fiona; Milne, Rebecca; Cherryman, Julie

    Despite mentally disordered suspects being over-represented within the criminal justice system, there is a dearth of published literature that examines police officers' perceptions when interviewing this vulnerable group. This is concerning given that police officers are increasingly the first point of contact with these individuals. Using a Grounded Theory approach, this study examined 35 police officers' perceptions and experiences when interviewing mentally disordered suspects. Current safeguards, such as Appropriate Adults, and their experiences of any training they received were also explored. A specially designed questionnaire was developed and distributed across six police forces in England and Wales. Nine conceptual categories emerged from the data that highlighted how police officers' level of experience impacted upon their perceptions when dealing with this cohort. As a consequence, a new model grounded within Schema Theory has emerged termed Police Experience Transitional Model. Implications include the treatment and outcome of mentally disordered suspects being heavily dependent on whom they encounter within the criminal justice system. Copyright © 2016 Elsevier Ltd. All rights reserved.

  17. [Suspected Alzheimer's disease. Selection of outpatients for neuropsychological assessment].

    Wolf, S A; Henry, M; Deike, R; Ebert, A D; Wallesch, C-W

    2008-04-01

    Incipient Alzheimer's disease (AD) is frequently suspected by neurologists and psychiatrists, but diagnosis is difficult to establish. The aim of this report was to analyse to what extent suspicion is confirmed by a comprehensive neuropsychological examination intended to distinguish different types of dementia. Descriptive data analysis was used for investigating the differential diagnoses of 47 outpatients with suspected AD referred to a department of neuropsychology by physicians in private practice. Data analysis was based upon the NINCDS-ADRDA diagnostic criteria of AD. Only 38% of the outpatients examined with suspected AD met the NINCDS-ADRDA diagnostic criteria for AD or mixed dementia from a neuropsychological point of view, whereas 22% met criteria for other types of dementia. The remaining patients met criteria for distinct differential diagnoses (23%) or lacked pathological findings in neuropsychological functions (17%). Neuropsychology is an essential part in the differential diagnosis of mild to moderate dementias. It can aid in differential therapeutic considerations concerning the treatment of dementia, for example in selecting appropriate treatments or avoiding expensive but inappropriate ones.

  18. Thoracic computed tomography in patients with suspected malignant pleural effusions

    Traill, Zoee C.; Davies, Robert J.O.; Gleeson, Fergus V.

    2001-01-01

    AIM: To assess the role of contrast-enhanced computed tomography (CT) prospectively in patients with suspected malignant pleural effusions. MATERIALS AND METHODS: Forty consecutive patients referred for the investigation of a suspected malignant pleural effusion had contrast-enhanced thoracic CT, thoracoscopy, thoraco-centesis and pleural biopsy, either percutaneously or at thoracoscopy. Final diagnoses were based on histopathological or cytological analysis (n = 30), autopsy findings (n = 3) or clinical follow-up (n = 7). The pleural surfaces were classified at contrast-enhanced CT as normal or abnormal and, if abnormal, as benign or malignant in appearance using previously established CT criteria for malignant pleural thickening by two observers unaware of the pathological diagnosis. RESULTS: Pleural effusions were malignant in 32 patients and benign in eight patients. Pleural surfaces assessed at CT showed features of malignancy in 27 out of 32 patients with a malignant effusion (sensitivity 84%, specificity 100%). Overall, CT appearances indicated the presence of malignancy in 28 of 32 (87%) patients. All eight patients with benign pleural disease were correctly diagnosed by CT. CONCLUSION: Contrast-enhanced CT is of value in patients with suspected malignant pleural effusions. The previously established criteria for malignant pleural thickening of nodularity, irregularity and pleural thickness >1 cm are reliable in the presence of a pleural effusion. Traill, Z.C. et al. (2001)

  19. Patterns of perceptual performance in Developmental Prosopagnosia

    Starrfelt, Randi; Petersen, Anders; Gerlach, Christian

    1. Objective Developmental prosopagnosia (DP) is a life-long deficit in face recognition. The deficit is thought to be selective for faces, a hypothesis we tested by investigating patterns of associated and dissociated visuoperceptual and -attentional functions in a group of DPs. 2. Participants...... and Methods. 10 DPs and 20 matched controls participated in experimental tasks measuring recognition of faces, objects, letters, words, and scenes, as well as text reading, global-local processing (Navon’s paradigm), and visual attention / short-term memory. Performance was compared using both group...... in delayed recognition. Three DPs, however, showed a classical dissociation between impaired face memory and preserved memory for scenes. For object recognition, DPs are impaired, and show a correlation between the severity of the face recognition deficit and performance with degraded objects. In the Navon...

  20. Parenting Practices and Associations with Development Delays among Young Children in Dominican Republic.

    Uwemedimo, Omolara Thomas; Howlader, Afrin; Pierret, Giselina

    According to the World Health Organization, >200 million children in low- and middle-income countries experience developmental delays. However, household structure and parenting practices have been minimally explored as potential correlates of developmental delay in low- and middle-income countries, despite potential as areas for intervention. The objective of the study was to examine associations of developmental delays with use of World Health Organization-recommended parenting practices among a clinic-based cohort of children aged 6-60 months attending in La Romana, Dominican Republic. This study was conducted among 74 caregiver-child pairs attending the growth-monitoring clinic at Hospital Francisco Gonzalvo in June 2015. The Malawi Developmental Assessment Tool was adapted and performed on each child to assess socioadaptive, fine motor, gross motor, and language development. The IMCI Household Level Survey Questionnaire was used to assess parenting practices. Fisher's exact test was used to determine associations significant at P children had a delay in at least 1 developmental domain. Most caregivers used scolding (43.2%) or spanking (44%) for child discipline. Children who were disciplined by spanking and scolding were more likely to have language delay (P = .007) and socioadaptive delay (P = .077), respectively. On regression analysis, children with younger primary caregivers had 7 times higher odds of language delay (adjusted odds ratio [AOR]: 7.35, 95% confidence interval [CI]: 1.52-35.61) and 4 times greater odds of any delay (AOR: 4.72, 95% CI: 1.01-22.22). In addition, children punished by spanking had 5 times higher odds of having language delay (AOR: 5.04, 95% CI: 1.13-22.39). Parenting practices such as harsh punishment and lack of positive parental reinforcement were found to have strong associations with language and socioadaptive delays. Likewise, delays were also more common among children with younger caregivers. Copyright © 2017 Icahn

  1. Dissociations between developmental dyslexias and attention deficits

    Lukov, Limor; Friedmann, Naama; Shalev, Lilach; Khentov-Kraus, Lilach; Shalev, Nir; Lorber, Rakefet; Guggenheim, Revital

    2014-01-01

    We examine whether attention deficits underlie developmental dyslexia, or certain types of dyslexia, by presenting double dissociations between the two. We took into account the existence of distinct types of dyslexia and of attention deficits, and focused on dyslexias that may be thought to have an attentional basis: letter position dyslexia (LPD), in which letters migrate within words, attentional dyslexia (AD), in which letters migrate between words, neglect dyslexia, in which letters on one side of the word are omitted or substituted, and surface dyslexia, in which words are read via the sublexical route. We tested 110 children and adults with developmental dyslexia and/or attention deficits, using extensive batteries of reading and attention. For each participant, the existence of dyslexia and the dyslexia type were tested using reading tests that included stimuli sensitive to the various dyslexia types. Attention deficit and its type was established through attention tasks assessing sustained, selective, orienting, and executive attention functioning. Using this procedure, we identified 55 participants who showed a double dissociation between reading and attention: 28 had dyslexia with normal attention and 27 had attention deficits with normal reading. Importantly, each dyslexia with suspected attentional basis dissociated from attention: we found 21 individuals with LPD, 13 AD, 2 neglect dyslexia, and 12 surface dyslexia without attention deficits. Other dyslexia types (vowel dyslexia, phonological dyslexia, visual dyslexia) also dissociated from attention deficits. Examination of 55 additional individuals with both a specific dyslexia and a certain attention deficit found no attention function that was consistently linked with any dyslexia type. Specifically, LPD and AD dissociated from selective attention, neglect dyslexia dissociated from orienting, and surface dyslexia dissociated from sustained and executive attention. These results indicate that

  2. Evaluation of delayed contrast-enhanced CT scan in diagnosing hilar cholangiocarcinoma

    Li Jianding; Liang Chenyang; Zhang Hua; Zhang Yuezhen; Li Rui

    2001-01-01

    Objective: To assess the diagnostic value of delayed CT contrast enhancement patterns in hilar cholangiocarcinoma based on two-phased dynamic incremental CT scanning. Methods: Fifty-two patients with suspected hilar tumor and bile duct obstruction underwent spiral CT scan. The scan time for one revolution of the X-ray tube was 1 second. To elucidate the delay time for optimal imaging, all proved cholangiocarcinoma with delayed (6, 8, 10, 15, 20, 30 minutes) post-equilibrium-phase contrast-enhanced CT scans were acquired with unenhanced, dynamic contrast-enhanced, and delayed images. Degree of delayed enhancement was compared with that of surrounding liver parenchyma. Results: (1) 8-15 minutes after IV injection of contrast material was the delay time for optimal imaging. (2) Of 29 cholangiocarcinomas, the early CT showed hypo-attenuating (lower than that of liver parenchyma) in 23 tumors, iso-attenuating (equal to that of the liver) in 4 tumors, and hyper-attenuating (higher than that of liver) in 2 tumors. The delayed CT scan showed iso-attenuating in 8 tumors, hyper-attenuating in 21 tumors, and no hypo-attenuating. Most of delay imaging of hilar cholangiocarcinoma may appear hyper-attenuating (U = -4.3073, P 2 = 9.09, P < 0.01). Conclusion: When assessing hilar tumor, delayed CT contrast enhancement patterns based on two-phase dynamic incremental CT scans is useful in the detection and characterization of hilar cholangiocarcinoma

  3. Stability and delay sensitivity of neutral fractional-delay systems.

    Xu, Qi; Shi, Min; Wang, Zaihua

    2016-08-01

    This paper generalizes the stability test method via integral estimation for integer-order neutral time-delay systems to neutral fractional-delay systems. The key step in stability test is the calculation of the number of unstable characteristic roots that is described by a definite integral over an interval from zero to a sufficient large upper limit. Algorithms for correctly estimating the upper limits of the integral are given in two concise ways, parameter dependent or independent. A special feature of the proposed method is that it judges the stability of fractional-delay systems simply by using rough integral estimation. Meanwhile, the paper shows that for some neutral fractional-delay systems, the stability is extremely sensitive to the change of time delays. Examples are given for demonstrating the proposed method as well as the delay sensitivity.

  4. Topographic processing in developmental prosopagnosia

    Klargaard, Solja K.; Starrfelt, Randi; Petersen, Anders

    2016-01-01

    deficit in visual processing or visual short-term memory. Interestingly, a classical dissociation could be demonstrated between impaired face memory and preserved topographic memory in two developmental prosopagnosics. We conclude that impairments in topographic memory tend to co-occur with developmental......Anecdotal evidence suggests a relation between impaired spatial (navigational) processing and developmental prosopagnosia. To address this formally, we tested two aspects of topographic processing – that is, perception and memory of mountain landscapes shown from different viewpoints. Participants...

  5. DEVELOPMENTAL TAXONOMY OF CONDUCT DISORDER

    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...

  6. Major trauma from suspected child abuse: a profile of the patient pathway.

    Davies, Ffion C; Lecky, Fiona E; Fisher, Ross; Fragoso-Iiguez, Marisol; Coats, Tim J

    2017-09-01

    Networked organised systems of care for patients with major trauma now exist in many countries, designed around the needs of the majority of patients (90% adults). Non-accidental injury is a significant cause of paediatric major trauma and has a different injury and age profile from accidental injury (AI). This paper compares the prehospital and inhospital phases of the patient pathway for children with suspected abuse, with those accidentally injured. The paediatric database of the national trauma registry of England and Wales, Trauma Audit and Research Network, was interrogated from April 2012 (the launch of the major trauma networks) to June 2015, comparing the patient pathway for cases of suspected child abuse (SCA) with AI. In the study population of 7825 children, 7344 (94%) were classified as AI and 481 (6%) as SCA. SCA cases were younger (median 0.4 years vs 7 years for AI), had a higher Injury Severity Score (median 16vs9 for AI), and had nearly three times higher mortality (5.7%vs2.2% for AI). Other differences included presentation to hospital evenly throughout the day and year, arrival by non-ambulance means to hospital (74%) and delayed presentation to hospital from the time of injury (median 8 hours vs 1.8 hours for AI). Despite more severe injuries, these infants were less likely to receive key interventions in a timely manner. Only 20% arrived to a designated paediatric-capable major trauma centre. Secondary transfer to specialist care, if needed, took a median of 21.6 hours from injury(vs 13.8 hours for AI). These data show that children with major trauma that is inflicted rather than accidental follow a different pathway through the trauma system. The current model of major trauma care is not a good fit for the way in which child victims of suspected abuse present to healthcare. To achieve better care, awareness of this patient profile needs to increase, and trauma networks should adjust their conventional responses. © Article author

  7. Low-Income Parents' Warmth and Parent-Child Activities for Children with Disabilities, Suspected Delays and Biological Risks

    Eshbaugh, Elaine M.; Peterson, Carla A.; Wall, Shavaun; Carta, Judith J.; Luze, Gayle; Swanson, Mark; Jeon, Hyun-Joo

    2011-01-01

    Warm and responsive parenting is optimal for child development, but this style of parenting may be difficult for some parents to achieve. This study examines how parents' observed warmth and their reported frequency of parent-child activities were related to children's classifications as having biological risks or a range of disability indicators.…

  8. Delayed diagnosis of lymphogranuloma venereum-associated colitis in a man first suspected to have rectal cancer.

    Bancil, Aaron S; Alexakis, Christopher; Pollok, Richard

    2016-01-01

    Lymphogranuloma venereum-associated colitis is a diagnosis that should not be missed. The following case represents the importance of a thorough history, including the importance of the sexual history to prevent the misdiagnosis of these patients.

  9. Imaging trends in suspected appendicitis-a Canadian perspective.

    Tan, Victoria F; Patlas, Michael N; Katz, Douglas S

    2017-06-01

    The purpose of our study was to assess trends in the imaging of suspected appendicitis in adult patients in emergency departments of academic centers in Canada. A questionnaire was sent to all 17 academic centers in Canada to be completed by a radiologist who works in emergency radiology. The questionnaires were sent and collected over a period of 4 months from October 2015 to February 2016. Sixteen centers (94%) responded to the questionnaire. Eleven respondents (73%) use IV contrast-enhanced computed tomography (CT) as the imaging modality of choice for all patients with suspected appendicitis. Thirteen respondents (81%) use ultrasound as the first modality of choice in imaging pregnant patients with suspected appendicitis. Eleven respondents (69%) use ultrasound (US) as the first modality of choice in patients younger than 40 years of age. Ten respondents (67%) use ultrasound as the first imaging modality in female patients younger than 40 years of age. When CT is used, 81% use non-focused CT of the abdomen and pelvis, and 44% of centers use oral contrast. Thirteen centers (81%) have ultrasound available 24 h a day/7 days a week. At 12 centers (75%), ultrasound is performed by ultrasound technologists. Four centers (40%) perform magnetic resonance imaging (MRI) in suspected appendicitis in adult patients at the discretion of the attending radiologist. Eleven centers (69%) have MRI available 24/7. All 16 centers (100%) use unenhanced MRI. Various imaging modalities are available for the work-up of suspected appendicitis. Although there are North American societal guidelines and recommendations regarding the appropriateness of the multiple imaging modalities, significant heterogeneity in the first-line modalities exist, which vary depending on the patient demographics and resource availability. Imaging trends in the use of the first-line modalities should be considered in order to plan for the availability of the imaging examinations and to consider plans for

  10. Developmental plasticity: Friend or foe?

    Michels, Karin B

    2017-01-01

    Developmental plasticity - the concept that adaptation to changing and unfavorable environmental conditions are possible but may come at the price of compromised health potentials - has evolutionary grounding as it facilitates survival but dissents with fundamental evolutionary principles in that it may advance the lesser fit. It is an important cornerstone of the Developmental Origins of Health and Disease (DOHaD). Unlike evolutionary adaptation developmental plasticity may be short-lived and restricted to one or few generations and inheritance is uncertain. Potential mechanisms include epigenetic modifications adopted in utero which may not transmit to the next generation; future insights may allow adjustments of the outcomes of developmental plasticity.

  11. Qualitative methodology in developmental psychology

    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 rec...... in qualitative research offers a promising avenue to advance the field in this direction.......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...

  12. Building a developmental toxicity ontology.

    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.

  13. Developmental immunotoxicology of lead

    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

  14. Delayed breast implant reconstruction

    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...... reconstruction approaches other than implants should be seriously considered among women who have received radiation therapy....

  15. Delay tolerant networks

    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.

  16. 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.

    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...

  17. Analysis of subpulse generation from delayed-interference signal-wavelength converter for wide carrier recovery rate range

    Sakaguchi, J.; Nielsen, Mads Lønstrup; Ohira, T.

    2008-01-01

    The generation of subpulses in delayed-interference signal-wavelength converters (DISCS) had been suspected as a Curse of waveform degradation in their application in ultrafast (similar to 160GHz) optical time division multiplexing (OTDM) communication systems. We reported its first observation...

  18. The role of imaging in children with suspected appendicitis: the UK perspective

    Lander, Anthony

    2007-01-01

    The diagnosis of uncomplicated acute appendicitis is often straightforward, allowing timely appendicectomy without the need for expensive tests or imaging. Repeated clinical examination by an experienced surgeon has traditionally been the key to making the diagnosis in both straightforward and difficult cases. Nonetheless, all surgeons will remove some normal appendices. Sometimes it can be particularly difficult to make the diagnosis, especially in the child under 5 years of age, in teenage girls, in young women and in the elderly. When difficult to make, the diagnosis may be significantly delayed and since the pathology is progressive, the patient may suffer potentially avoidable complications. This paper looks at two potential roles for imaging. Firstly, can imaging, applied selectively, help make the difficult diagnosis less difficult and so reduce delays and morbidity? Secondly, could imaging all patients with suspected appendicitis reduce the number of normal appendices removed from children who seem to have all the signs and symptoms of straightforward uncomplicated acute appendicitis but who actually have presumed self-resolving non-appendiceal pathology? The answer to these questions may depend on three factors that are not entirely independent: a surgical unit's current audited negative appendicectomy rate, population base/case mix and the expertise of the examining surgeon. Individual surgeons and some surgical units, by policy, use modern imaging techniques with quite different frequencies that may be appropriate depending on these three factors. This article argues that a careful history and repeated clinical examination is the key to making the diagnosis, with imaging, primarily ultrasonography, being used in patients with a palpable mass or in those having had 48 h of hospital observation without progress. In Europe, imaging has played a limited role in the investigation of the child with suspected appendicitis with the diagnosis relying on repeated

  19. Is schizophrenia developmental adaptation to environmental menaces?

    Goto, Yukiori; Lee, Young-A

    2011-11-01

    Schizophrenia is a devastating mental disorder, with its symptoms typically emerging during late adolescence to young adulthood. In contrast, accumulating evidence suggests that schizophrenia is a developmental disorder in which brain abnormalities may occur even before birth. This has brought the major challenge to explain such discrepancy of brain deficits occurring during prenatal period and emergence of symptoms during adulthood. A number of ideas have been proposed to explain delayed emergence of symptoms at adulthood in relation to maturational processes of various brain systems during adolescence. However, these still lack clear relationship to prenatal deficits. Thus, a key to better understand the pathology of schizophrenia is to unveil a theory or model that can explain the relationship between prenatal deficits and post-pubertal onset of symptoms. Here we propose a novel hypothesis, along with discussion of several lines of evidences supporting it, that schizophrenia may not be a disorder in a strict sense, but rather be understood as the biological state occurring as consequence of adaptation to severe environmental conditions during the prenatal periods, which explains the relationship between prenatal developmental deficits and the postnatal maturational process for onset of symptoms. Copyright © 2011 Elsevier Ltd. All rights reserved.

  20. I. DEVELOPMENTAL METHODOLOGY AS A CENTRAL SUBDISCIPLINE OF DEVELOPMENTAL SCIENCE.

    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.

  1. Constructivist developmental theory is needed in developmental neuroscience

    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.

  2. Location Estimation using Delayed Measurements

    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...

  3. Modeling delay in genetic networks: from delay birth-death processes to delay stochastic differential equations.

    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.

  4. Modeling delay in genetic networks: From delay birth-death processes to delay stochastic differential equations

    Gupta, Chinmaya; López, José Manuel; Azencott, Robert; Ott, William [Department of Mathematics, University of Houston, Houston, Texas 77004 (United States); Bennett, Matthew R. [Department of Biochemistry and Cell Biology, Rice University, Houston, Texas 77204, USA and Institute of Biosciences and Bioengineering, Rice University, Houston, Texas 77005 (United States); Josić, Krešimir [Department of Mathematics, University of Houston, Houston, Texas 77004 (United States); Department of Biology and Biochemistry, University of Houston, Houston, Texas 77204 (United States)

    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.

  5. Modeling delay in genetic networks: From delay birth-death processes to delay stochastic differential equations

    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

  6. 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

    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

  7. Effects of television exposure on developmental skills among young children.

    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.

  8. Systematic of delayed neutron parameters

    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

  9. Time Delay of CGM Sensors

    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

  10. Can Early Years Professionals Determine Which Preschoolers Have Comprehension Delays? A Comparison of Two Screening Tools

    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…

  11. Delayed radiation injury to the brain

    Takano, Shingo; Yoshii, Yoshihiko; Okazaki, Masao; Nose, Tadao; Aida, Shinsuke

    1989-01-01

    The authors report four cases of delayed radiation injury to the brain. One case was diagnosed histologically, and the other three cases, by means of serial CT scans and clinical symptoms. In all cases, a low-density area was observed 4-15 months after radiotherapy, then the contrast-enhanced area appeared within the low-density area about 4 months later. The enhanced area was distant from the original tumor, but within the field of radiotherapy. In the relationship between CT scans and superimposed dose distributions, the enhanced area and the low-density area were always observed within a zone of more than 80% of the total doses, and, as for the irradiated doses, there was no difference between the two areas. However, a distinct difference between these two areas was noted in the MRI scans and histopathology. The enhanced area was imaged as an area of a high signal by means of Gd-DTPA enhanced T 1 -weighted images in two cases. In the one histologically verified case, the fibrinoid necrosis of the blood vessel and demyelination appeared significantly higher in the enhanced area than in the low-density area. In conclusion, when a low-density area was observed by CT scan within the field of radiotherapy, we also suspected radiation injury and considered steroid or anticoagulant therapy in order to reverse it. However, if an enhanced area appeared within the injured lesion, the area seemed to have become irreversible and surgical therapy might also be needed. (author)

  12. Developmentally Appropriate Peace Education Curricula

    Lewsader, Joellen; Myers-Walls, Judith A.

    2017-01-01

    Peace education has been offered to children for decades, but those curricula have been only minimally guided by children's developmental stages and needs. In this article, the authors apply their research on children's developmental understanding of peace along with peace education principles and Vygotsky's sociocultural theory to present…

  13. Developmental Kindergarten Program Evaluation Report.

    Blois, George T.; Cushing, Katherine S.

    The evaluation of the Developmental Kindergarten (DK) Program at the Harrison School District #2, Colorado Springs, Colorado, involved pre- and post-testing of student academic gains and interviewing of principals and teachers. The program aimed to provide developmentally appropriate activities for students believed to be "at risk" of…

  14. Developmental programming of happiness.

    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.

  15. Developmental colour agnosia.

    van Zandvoort, Martine J E; Nijboer, Tanja C W; de Haan, Edward

    2007-08-01

    Colour agnosia concerns the inability to recognise colours despite intact colour perception, semantic memory for colour information, and colour naming. Patients with selective colour agnosia have been described and the deficit is associated with left hemisphere damage. Here we report a case study of a 43-year-old man who was referred to us with a stroke in his right cerebellar hemisphere. During the standard assessment it transpired that he was unable to name coloured patches. Detailed assessment of his colour processing showed that he suffers from a selective colour agnosia. As he claimed to have had this problem all his life, and the fact that the infratentorial infarct that he had incurred was in an area far away from the brain structures that are known to be involved in colour processing, we suggest that he is the first reported case of developmental colour agnosia.

  16. [Neurotransmission in developmental disorders].

    Takeuchi, Yoshihiro

    2008-11-01

    Attention deficit/hyperactivity disorder (AD/HD) is a heterogeneous developmental disorder with an etiology that is not fully understood. AD/HD has been considered to occur due to a disturbance in cathecholaminergic neurotransmission, with particular emphasis on dopamine. The neurotransmission of dopamine in subcortical regions such as the basal ganglia and limbic areas is synaptic; on the other hand, dopamine neurotransmission in the frontal cortex is quite different, because there are very few dopamine transporters (DAT) in the frontal cortex that allow dopamine to diffuse away from the dopamine synapse ("volume transmission"). It is now clear that noradrenergic neurons play a key regulatory role in dopaminergic function in the frontal cortex. Furthermore, serotonergic neurons exert an inhibitory effect on midbrain dopamine cell bodies, and they have an influence on dopamine release in terminal regions. There is accumulating neurobiological evidence pointing toward a role of the serotonin system in AD/HD. The etiology of autism spectrum disorders (ASD) is still unclear, but information from genetics, neuropathology, brain imaging, and basic neuroscience has provided insights into the understanding of this developmental disorder. In addition to abnormal circuitry in specific limbic and neocortical areas of the cerebral cortex, impairments in brainstem, cerebellar, thalamic, and basal ganglia connections have been reported. Numerous studies have pointed to abnormalities in serotonin and glutamate neurotransmission. Three important aspects involved in the pathophysiology of ASD have been proposed. The first is cell migration, the second is unbalanced excitatory-inhibitory networks, and the third is synapse formation and pruning, the key factors being reelin, neurexin, and neuroligin. Serotonin is considered to play an important role in all of these aspects of the pathophysiology of ASD. Finally, I would like to emphasize that it is crucial in the field of child

  17. Herbal hepatotoxicity: suspected cases assessed for alternative causes.

    Teschke, Rolf; Schulze, Johannes; Schwarzenboeck, Alexander; Eickhoff, Axel; Frenzel, Christian

    2013-09-01

    Alternative explanations are common in suspected drug-induced liver injury (DILI) and account for up to 47.1% of analyzed cases. This raised the question of whether a similar frequency may prevail in cases of assumed herb-induced liver injury (HILI). We searched the Medline database for the following terms: herbs, herbal drugs, herbal dietary supplements, hepatotoxic herbs, herbal hepatotoxicity, and herb-induced liver injury. Additional terms specifically addressed single herbs and herbal products: black cohosh, Greater Celandine, green tea, Herbalife products, Hydroxycut, kava, and Pelargonium sidoides. We retrieved 23 published case series and regulatory assessments related to hepatotoxicity by herbs and herbal dietary supplements with alternative causes. The 23 publications comprised 573 cases of initially suspected HILI; alternative causes were evident in 278/573 cases (48.5%). Among them were hepatitis by various viruses (9.7%), autoimmune diseases (10.4%), nonalcoholic and alcoholic liver diseases (5.4%), liver injury by comedication (DILI and other HILI) (43.9%), and liver involvement in infectious diseases (4.7%). Biliary and pancreatic diseases were frequent alternative diagnoses (11.5%), raising therapeutic problems if specific treatment is withheld; pre-existing liver diseases including cirrhosis (9.7%) were additional confounding variables. Other diagnoses were rare, but possibly relevant for the individual patient. In 573 cases of initially assumed HILI, 48.5% showed alternative causes unrelated to the initially incriminated herb, herbal drug, or herbal dietary supplement, calling for thorough clinical evaluations and appropriate causality assessments in future cases of suspected HILI.

  18. Use of biomarkers in triage of patients with suspected stroke.

    Vanni, Simone; Polidori, Gianluca; Pepe, Giuseppe; Chiarlone, Melisenda; Albani, Alberto; Pagnanelli, Adolfo; Grifoni, Stefano

    2011-05-01

    The absence of a rapidly available and sensitive diagnostic test represents an important limitation in the triage of patients with suspected stroke. The aim of the present study was to investigate the triage accuracy of a novel test that measures blood-borne biomarkers (triage stroke panel, TSP) and to compare its accuracy with that of the Cincinnati Prehospital Stroke Scale (CPSS). Consecutive patients with suspected stroke presenting to the Emergency Departments of three Italian hospitals underwent triage by a trained nurse according to the CPSS and had blood drawn for TSP testing. The TSP simultaneously measures four markers (B-type natriuretic peptide, D-dimer, matrix metalloproteinase-9, and S100β) presenting a single composite result, the Multimarker Index (MMX). Stroke diagnosis was established by an expert committee blinded to MMX and CPSS results. There were 155 patients enrolled, 87 (56%) of whom had a final diagnosis of stroke. The area under the receiver operating characteristic (ROC) curve for CPSS was 0.77 (95% confidence interval [CI] 0.70-0.84) and that of MMX was 0.74 (95% CI 0.66-0.82) (p = 0.285). Thus, both tests, when used alone, failed to recognize approximately 25% of strokes. The area under the ROC curve of the combination of the two tests (0.86, 95% CI 0.79-0.91) was significantly greater than that of either single test (p = 0.01 vs. CPSS and p vs. TSP). In an emergency care setting, a panel test using multiple biochemical markers showed triage accuracy similar to that of CPSS. Further studies are needed before biomarkers can be introduced in the clinical work-up of patients with suspected stroke. Copyright © 2011 Elsevier Inc. All rights reserved.

  19. A Suspected Pelvic Aneurysmal Bone Cyst in Pregnancy

    Rayan Elkattah

    2013-01-01

    Full Text Available Albeit rare, the majority of identified bone lesions in pregnancy spare the pelvis. Once encountered with a pelvic bone lesion in pregnancy, the obstetrician may face a challenging situation as it is difficult to determine and predict the effects that labor and parturition impart on the pelvic bones. Bone changes and pelvic bone fractures have been well documented during childbirth. The data regarding clinical outcomes and management of pregnancies complicated by pelvic ABCs is scant. Highly suspected to represent an aneurysmal bone cyst, the clinical evaluation of a pelvic lesion in the ilium of a pregnant individual is presented, and modes of delivery in such a scenario are discussed.

  20. Investigation of suspected TRALI cases in 2006–2011

    Marjeta Maček Kvanka

    2012-12-01

    Methods: In 2006–2011, eight suspected TRALI cases that met consensus clinical criteria and had chest radiograph were investigated in the Blood Transfusion Center of Slovenia. Patients and all donors of blood components transfused within 6 hours before the onset of acute respiratory distress were investigated for leukocyte antibodies against HLA class I and II antigens, and antibodies against neutrophil antigens HNA. All cases were investigated for patient, donor and blood component characteristics. In cooperation with clinicians, chest radiographs and alternative risk factors for acute lung injury (ALI were evaluated.

  1. Creating fair lineups for suspects with distinctive features.

    Zarkadi, Theodora; Wade, Kimberley A; Stewart, Neil

    2009-12-01

    In their descriptions, eyewitnesses often refer to a culprit's distinctive facial features. However, in a police lineup, selecting the only member with the described distinctive feature is unfair to the suspect and provides the police with little further information. For fair and informative lineups, the distinctive feature should be either replicated across foils or concealed on the target. In the present experiments, replication produced more correct identifications in target-present lineups--without increasing the incorrect identification of foils in target-absent lineups--than did concealment. This pattern, and only this pattern, is predicted by the hybrid-similarity model of recognition.

  2. Cytogenetic dosimetry in suspected cases of ionizing radiation occupational exposure

    Ramalho, Adriana T.; Costa, Maria Lucia P.; Oliveira, Monica S.; Silva, Francisco Cesar A. da

    2001-01-01

    Cytogenetic dosimetry is very useful in routine as well as in serious accident situations in which exposed individuals do not wear physical dosimeters. Since 1984, the technique of cytogenetic dosimetry has been used as a routine in our laboratory at IRD/CNEN to complement the data of physical dosimetry. In the period from 1984 to 2000, 138 cases of occupational overexposure of individual dosimeters were investigated by us. In total, only in 36 of the 138 cases investigated the overexposure was confirmed by cytogenetic dosimetry. The data indicates a total confirmation index of just 26% of the suspected cases.(author)

  3. Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome : A systematic and prospective study in 34 children

    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

  4. Developmental phenotype in Phelan- McDermid (22q13.3 deletion) syndrome : a systematic and prospective study in 34 children

    Zwanenburg, R.J.; Ruiter, S.A.J.; Van Den Heuvel, E.R.; Flapper, B.C.T.; Van Ravenswaaij-Arts, C.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 a

  5. The Role of Developmental Screening Practices in Early Diagnosis of Autism Spectrum Disorders: An Analysis of All-Payer Claims Data in New Hampshire

    Humphreys, Betsy P.

    2013-01-01

    Universal developmental screening during pediatric well child care detects early delays in development and is a critical gateway to early intervention for young children at risk for Autism Spectrum Disorders (ASD). Developmental screening practices are highly variable, and few studies have examined screening utilization for children at risk for…

  6. Mortality among PCR negative admitted Ebola suspects during the 2014/15 outbreak in Conakry, Guinea: A retrospective cohort study.

    Brecht Ingelbeen

    Full Text Available Non-cases are suspect Ebola Virus Disease (EVD cases testing negative by EVD RT-PCR after admission to an Ebola Treatment Centre (ETC. Admitting non-cases to an ETC prompts concerns on case- and workload in the ETC, risk for nosocomial EVD infection, and delays in diagnosis and disease-specific treatment. We retrospectively analysed characteristics, outcomes and determinants of death of EVD cases and non-cases admitted to the Conakry ETC in Guinea between 03/2014 and 09/2015. Of the 2362 admitted suspects who underwent full confirmatory PCR testing, 1540 (65.2% were non-cases; among them 727 needed repeated confirmatory PCR testing resulting in 2.5 days (average in the ETC isolation ward. Twenty-one patients tested positive on the repeat test, most in a period of flawed sampling for the initial test and none after introduction of PCR confirmation with geneXpert. No readmissions following nosocomial EVD infection were recorded. No combination of symptoms yielded acceptable sensitivity and specificity to allow differentiating confirmed from non-cases. Symptoms as ocular bleeding/redness have high specificity, but limited usefulness as not common. Admission delay and age distribution were not different for both groups. In total, 98 (20.6% of 475 deaths in the ETC were non-cases. Most died within 24 hours after admission. Living in Conakry (aOR 1.78 (1.08-2.96 was the strongest risk factor for death. Weeks with higher admission load had lower case fatality among non-cases, probably because more acute (and treatable illnesses of contacts of known cases were admitted. These findings show high numbers of potentially critically ill non-cases need to be considered when setting up triage and referral of EVD suspect cases. Symptoms and risk factors alone do not allow differentiating the non-cases. Integration of highly-sensitive EVD diagnostic methods with short turnaround time in the triage of peripheral hospitals and dropping the systematic 2nd PCR for

  7. Mortality among PCR negative admitted Ebola suspects during the 2014/15 outbreak in Conakry, Guinea: A retrospective cohort study.

    Ingelbeen, Brecht; Bah, Elhadj Ibrahima; Decroo, Tom; Balde, Idrissa; Nordenstedt, Helena; van Griensven, Johan; De Weggheleire, Anja

    2017-01-01

    Non-cases are suspect Ebola Virus Disease (EVD) cases testing negative by EVD RT-PCR after admission to an Ebola Treatment Centre (ETC). Admitting non-cases to an ETC prompts concerns on case- and workload in the ETC, risk for nosocomial EVD infection, and delays in diagnosis and disease-specific treatment. We retrospectively analysed characteristics, outcomes and determinants of death of EVD cases and non-cases admitted to the Conakry ETC in Guinea between 03/2014 and 09/2015. Of the 2362 admitted suspects who underwent full confirmatory PCR testing, 1540 (65.2%) were non-cases; among them 727 needed repeated confirmatory PCR testing resulting in 2.5 days (average) in the ETC isolation ward. Twenty-one patients tested positive on the repeat test, most in a period of flawed sampling for the initial test and none after introduction of PCR confirmation with geneXpert. No readmissions following nosocomial EVD infection were recorded. No combination of symptoms yielded acceptable sensitivity and specificity to allow differentiating confirmed from non-cases. Symptoms as ocular bleeding/redness have high specificity, but limited usefulness as not common. Admission delay and age distribution were not different for both groups. In total, 98 (20.6%) of 475 deaths in the ETC were non-cases. Most died within 24 hours after admission. Living in Conakry (aOR 1.78 (1.08-2.96)) was the strongest risk factor for death. Weeks with higher admission load had lower case fatality among non-cases, probably because more acute (and treatable) illnesses of contacts of known cases were admitted. These findings show high numbers of potentially critically ill non-cases need to be considered when setting up triage and referral of EVD suspect cases. Symptoms and risk factors alone do not allow differentiating the non-cases. Integration of highly-sensitive EVD diagnostic methods with short turnaround time in the triage of peripheral hospitals and dropping the systematic 2nd PCR for symptomatic

  8. Delayed Auditory Feedback and Movement

    Pfordresher, Peter Q.; Dalla Bella, Simone

    2011-01-01

    It is well known that timing of rhythm production is disrupted by delayed auditory feedback (DAF), and that disruption varies with delay length. We tested the hypothesis that disruption depends on the state of the movement trajectory at the onset of DAF. Participants tapped isochronous rhythms at a rate specified by a metronome while hearing DAF…

  9. #FakeNobelDelayReasons

    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.    

  10. Picosecond resolution programmable delay line

    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)

  11. Empiric auto-titrating CPAP in people with suspected obstructive sleep apnea.

    Drummond, Fitzgerald; Doelken, Peter; Ahmed, Qanta A; Gilbert, Gregory E; Strange, Charlie; Herpel, Laura; Frye, Michael D

    2010-04-15

    Efficient diagnosis and treatment of obstructive sleep apnea (OSA) can be difficult because of time delays imposed by clinic visits and serial overnight polysomnography. In some cases, it may be desirable to initiate treatment for suspected OSA prior to polysomnography. Our objective was to compare the improvement of daytime sleepiness and sleep-related quality of life of patients with high clinical likelihood of having OSA who were randomly assigned to receive empiric auto-titrating continuous positive airway pressure (CPAP) while awaiting polysomnogram versus current usual care. Serial patients referred for overnight polysomnography who had high clinical likelihood of having OSA were randomly assigned to usual care or immediate initiation of auto-titrating CPAP. Epworth Sleepiness Scale (ESS) scores and the Functional Outcomes of Sleep Questionnaire (FOSQ) scores were obtained at baseline, 1 month after randomization, and again after initiation of fixed CPAP in control subjects and after the sleep study in auto-CPAP patients. One hundred nine patients were randomized. Baseline demographics, daytime sleepiness, and sleep-related quality of life scores were similar between groups. One-month ESS and FOSQ scores were improved in the group empirically treated with auto-titrating CPAP. ESS scores improved in the first month by a mean of -3.2 (confidence interval -1.6 to -4.8, p life in a cohort of patients awaiting polysomnography who had a high pretest probability of having OSA. Additional studies are needed to evaluate the applicability of empiric treatment to other populations.

  12. First report of suspected ethylene glycol poisoning in 2 dogs in South Africa : clinical communication

    N. Keller

    2005-06-01

    Full Text Available Ethylene glycol (anti-freeze toxicity is a serious emergency in both veterinary and human medicine. Ethylene glycol (E/G is the active anti-freeze principle in radiator water additives. It is odourless, colourless and has a sweet taste. As little as 5 mℓ or 20 mℓ is sufficient to kill a cat or a dog, respectively. Ethylene glycol is rapidly absorbed and metabolised in the liver to oxalate, which is deposited as calcium oxalate in the kidneys causing irreversible damage. This report describes 2 dogs that were suspected to have ingested ethylene glycol. The report contains a description of the 3 stages of ethylene glycol toxicity as well as a short discussion of the treatment. Public awareness about the dangers of anti-freeze will help in limiting exposure of pets and humans to this potentially fatal toxin. Veterinarians need to be aware of anti-freeze toxicity as delayed recognition and treatment will lead to the death of the patient.

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

    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)

  14. Biomedical Risk, Psychosocial Influences, and Developmental Outcomes: Lessons from the Pediatric HIV Population in Africa

    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…

  15. Biomedical risk, psychosocial influences, and developmental outcomes : Lessons from the pediatric HIV population in Africa

    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

  16. A Developmental and Genetic Classification for Malformations of Cortical Development: Update 2012

    Barkovich, A. James; Guerrini, Renzo; Kuzniecky, Ruben I.; Jackson, Graeme D.; Dobyns, William B.

    2012-01-01

    Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain development and its perturbations. The rapid recent evolution of molecular biology, genetics…

  17. Project delay analysis of HRSG

    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. A case of suspected 'Bickerstaff's encephalitis' and its CT findings

    Moto, Atsufumi; Endo, Shunro; Ohmori, Tomoaki; Oka, Nobuo; Takaku, Akira

    1985-01-01

    A case of suspected ''Bickerstaff's encephalitis'' was presented with special reference to the CT findings. A 4-year-old girl exhibited fever and nausea after the beginning of December, 1983, followed by unsteady gait on January 1, 1984. She was admitted to another hospital and diagnosed by means of a spinalfluid examination as having aseptic meningitis. Her symptoms subsided transiently, but then she began again to suffer recurrently from unsteady gait on January 27. After that she developed dysarthria and dysphagia, a disturbance of eye movement was observed, and she became lethargic and disoriented. On February 6, she was transferred to our hospital. Plain CT scan on admission revealed a low-density area on the left cerebellar peduncle and the inferior medial part of the left temporal lobe. Moreover, the low-density area was heterogenously enhanced with the contrast medium. Angiography showed no abnormal findings. Considering these CT findings, we suspected a pontine tumor. Four days after her admission, however, her symptoms and signs began rapidly to subside, and also the abnormal findings on the CT scan diminished gradually as the symptoms were relieved. On March 2, she was discharged without any neurological abnormality. (author)

  19. PMS2 involvement in patients suspected of Lynch syndrome.

    Niessen, Renée C; Kleibeuker, Jan H; Westers, Helga; Jager, Paul O J; Rozeveld, Dennie; Bos, Krista K; Boersma-van Ek, Wytske; Hollema, Harry; Sijmons, Rolf H; Hofstra, Robert M W

    2009-04-01

    It is well-established that germline mutations in the mismatch repair genes MLH1, MSH2, and MSH6 cause Lynch syndrome. However, mutations in these three genes do not account for all Lynch syndrome (suspected) families. Recently, it was shown that germline mutations in another mismatch repair gene, PMS2, play a far more important role in Lynch syndrome than initially thought. To explore this further, we determined the prevalence of pathogenic germline PMS2 mutations in a series of Lynch syndrome-suspected patients. Ninety-seven patients who had early-onset microsatellite instable colorectal or endometrial cancer, or multiple Lynch syndrome-associated tumors and/or were from an Amsterdam Criteria II-positive family were selected for this study. These patients carried no pathogenic germline mutation in MLH1, MSH2, or MSH6. When available, tumors were investigated for immunohistochemical staining (IHC) for PMS2. PMS2 was screened in all patients by exon-by-exon sequencing. We identified four patients with a pathogenic PMS2 mutation (4%) among the 97 patients we selected. IHC of PMS2 was informative in one of the mutation carriers, and in this case, the tumor showed loss of PMS2 expression. In conclusion, our study confirms the finding of previous studies that PMS2 is more frequently involved in Lynch syndrome than originally expected.

  20. The role of MRI in suspected inner ear malformations

    Koesling, S.; Juettemann, S.; Amaya, B.; Rasinski, C.; Bloching, M.; Koenig, E.

    2003-01-01

    Purpose: This is a prospective analysis of the value of MRI in suspected inner ear malformations. Materials and Methods: In 50 patients (43 children and young adults, 7 adults) with suspected inner ear malformation MRI (1.5 T) was performed. In addition, 42 of these patients underwent CT. For the analysis of the inner ear structures, the constructive interference in steady state (CISS) sequence with 0.7 mm slice thickness was used. Functional tests revealed a sensorineural hearing loss or deafness in 82 temporal bones (TB) and a combined hearing loss in 4 TB. The hearing loss was unilateral in 14 patients. MRI and CT findings were compared. Results: Imaging findings were normal in 58 TB. The pathological findings included inner ear malformations (35 TB), inflammatory changes (4 TB), partial obliteration of labyrinth (2 TB) and congenital aural atresia (1 TB). An isolated absence of the cochlear nerve (1 TB) could only be found by MRI. In the remaining cases, an inner ear malformation was diagnosed by MRI and CT with the same confidence but MRI was superior in displaying the fine details. Conclusions: MRI will become the method of choice in the diagnosis of inner ear malformations. (orig.) [de

  1. Early diagnosis of dengue virus infection in clinically suspected cases

    Afridi, N.K.; Ahmed, S.; Ali, N.; Khan, S.A.

    2016-01-01

    Objective: Comparison of real time reverse transcriptase polymerase chain reaction (RTPCR) and immunoglobulin M (IgM) capture enzyme linked immunosorbent assay (ELISA) for diagnosis of dengue virus infection in first week of illness in clinically suspected patients of dengue fever. Study Design: Cross sectional study. Place and Duration of Study: Department of haematology, Armed Forces Institute of Pathology (AFIP) Rawalpindi from Jan 2013 to Nov 2013. Material and Methods: A cross sectional study including 68 clinically suspected patients of dengue fever according to the World Health Organization (WHO) criteria. IgM capture ELISA and RT PCR for dengue virus ribonucleic acid (RNA) was performed on samples collected from patients having fever for 1 to 7 days. These were divided into two groups. Patients in group 1 presented with fever of 4 days or less, patients in group 2 had fever of 5 to 7 days duration. Results: In group 1, 72 percent of the patients were positive by RT PCR while 31 percent were positive by IgM capture ELISA. In group 2, 43 percent of the patients were positive by RT PCR while 97 percent were positive by ELISA. Conclusion: RT PCR can be used for early detection of dengue virus infection in the first few days of fever while IgM ELISA is diagnostic afterwards. (author)

  2. MRI diagnosis of suspected atlanto-occipital dissociation in childhood

    Grabb, B.C.; Frye, T.A.; Hedlund, G.L.; Vaid, Y.N.; Royal, S.A.; Grabb, P.A.

    1999-01-01

    Objective. To demonstrate the utility of magnetic resonance (MR) imaging in the diagnosis of complete and partial ligamentous injuries in patients with suspected atlanto-occipital dissociation (AOD). Materials and methods. Five patients with suspected AOD had MR imaging performed within an average of 4 days after injury. MR scans were reviewed with specific analysis of craniocervical ligamentous structures. Charts were reviewed to obtain clinical information regarding presentation, treatment, hospital course, and outcome. Results. Two patients demonstrated MR evidence of complete AOD. One had disruption of all visualized major ligamentous structures at the craniocervical junction with anterolisthesis and evidence of cord damage. The second had injuries to the tectorial membrane, superior band of the cruciform ligament, apical ligament, and interspinous ligament at C 1-2. The remaining three patients sustained incomplete severance of the ligamentous structures at the craniocervical junction. All patients demonstrated subtle radiographic findings suggestive of AOD, including soft tissue swelling at the craniocervical junction without fracture. The two patients with complete AOD died. The three patients with partial AOD were treated with stabilization. On follow-up, these three children were asymptomatic following their craniocervical injury. Conclusion. MR imaging of acute AOD provides accurate identification of the craniocervical ligaments injured, classification of full versus partial ligamentous disruption, and analysis of accompanying spinal cord injury. This information is important for early appropriate neurosurgical management and preservation of neurologic function in survivors. (orig.)

  3. CT coronary angiographic evaluation of suspected anginal chest pain.

    Moss, Alastair J; Newby, David E

    2016-02-15

    Non-invasive imaging plays a critical role in the assessment of patients presenting with suspected angina chest pain. However, wide variations in practice across Europe and North America highlight the lack of consensus in selecting the appropriate first-line test for the investigation of coronary artery disease (CAD). CT coronary angiography (CTCA) has a high negative predictive value for excluding the presence of CAD. As such, it serves as a potential 'gatekeeper' to downstream testing by reducing the rate of inappropriate invasive coronary angiography. Two recent large multicentre randomised control trials have provided insights into whether CTCA can be incorporated into chest pain care pathways to improve risk stratification of CAD. They demonstrate that using CTCA enhances diagnostic certainty and improves the targeting of appropriate invasive investigations and therapeutic interventions. Importantly, reductions in cardiac death and non-fatal myocardial infarction appear to be attained through the more appropriate use of preventative therapy and coronary revascularisation when guided by CTCA. With this increasing portfolio of evidence, CTCA should be considered the non-invasive investigation of choice in the evaluation of patients with suspected angina pectoris due to coronary heart disease. NCT01149590, post-results. 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/

  4. Value of noncontrast spiral CT for suspected acute appendicitis

    Choi, Pil Yeob; Lee, Sang Wook; Kwon, Jae Soo; Sung, Young Soon; Rho, Myoung Ho; Chang, Jeong A.

    1998-01-01

    To assess the diagnostic accuracy and clinical efficacy of noncontrast spiral CT in patients with suspected acute appendicitis. Over a six-month period, 100 patients with suspected acute appendicitis were prospectively evaluated with noncontrast spiral CT. All scans were obtained from the lower body of L3 to the symphysis pubis, with 5mm or 10mm collimation and pitch of 1 or 1.5, and without intravenous or oral contrast material. Diagnosis was established by means of surgical or clinical follow-up. Prospective diagnosis based on CT findings was compared with surgical results and clinical follow-up. Acute appendicitis was confirmed in 47 of 100 patients. On the basis of the Ct findings, SI patients were prospectively interpreted as positive for appendicitis, but in six the diagnosis was false-positive. Two of the 47 with acute appendicitis were prospectively interpreted as normal. The preoperative diagnosis of acute appendicitis was, thus, 45 true-positive, 47 true-negative, six false-positive and two false-negative yielding a sensitivity of 96%, a specificity of 89%, an accuracy of 92%, a positive predictive value of 88%, and a negative predictive value of 96%. Using CT, an alternative diagnosis was established in 14 patients. Noncontrast spiral CT is a useful technique for diagnosing acute appendicitis. =20

  5. Method for detection of a suspect viral deoxyribonucleic acid in an acellular biological fluid

    Berninger, M S

    1982-10-06

    A method for evaluating an acellular biological fluid for the presence of a suspect viral DNA, such as DNA of the Hepatitis-B virus, is described. The acellular biological fluid is treated to immobilize in denatured form the DNAs including the suspect viral DNA on a solid substrate. This substrate is contacted with a solution including radioisotopically-labelled suspect viral denatured DNA to renature the immobilized suspect viral native DNA. The solid substrate is then evaluated for radioisotopically-labelled suspect viral renatured DNA.

  6. Method for detection of a suspect viral deoxyribonucleic acid in an acellular biological fluid

    Berninger, M.S.

    1982-01-01

    A method for evaluating an acellular biological fluid for the presence of a suspect viral DNA, such as DNA of the Hepatitis-B virus, is described. The acellular biological fluid is treated to immobilize in denatured form the DNAs including the suspect viral DNA on a solid substrate. This substrate is contacted with a solution including radioisotopically-labelled suspect viral denatured DNA to renature the immobilized suspect viral native DNA. The solid substrate is then evaluated for radioisotopically-labelled suspect viral renatured DNA. (author)

  7. Delayed radiation neuropathy

    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).

  8. Delayed radiation neuropathy

    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)

  9. Attentional networks in developmental dyscalculia

    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.

  10. Attentional networks in developmental dyscalculia.

    Askenazi, Sarit; Henik, Avishai

    2010-01-07

    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. 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. 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. 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.

  11. Psychomotor delay, a possible rare presentation of moyamoya disease

    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.

  12. Unfair Lineups Make Witnesses More Likely to Confuse Innocent and Guilty Suspects.

    Colloff, Melissa F; Wade, Kimberley A; Strange, Deryn

    2016-09-01

    Eyewitness-identification studies have focused on the idea that unfair lineups (i.e., ones in which the police suspect stands out) make witnesses more willing to identify the police suspect. We examined whether unfair lineups also influence subjects' ability to distinguish between innocent and guilty suspects and their ability to judge the accuracy of their identification. In a single experiment (N = 8,925), we compared three fair-lineup techniques used by the police with unfair lineups in which we did nothing to prevent distinctive suspects from standing out. Compared with the fair lineups, doing nothing not only increased subjects' willingness to identify the suspect but also markedly impaired subjects' ability to distinguish between innocent and guilty suspects. Accuracy was also reduced at every level of confidence. These results advance theory on witnesses' identification performance and have important practical implications for how police should construct lineups when suspects have distinctive features. © The Author(s) 2016.

  13. Attosecond Delays in Molecular Photoionization.

    Huppert, Martin; Jordan, Inga; Baykusheva, Denitsa; von Conta, Aaron; Wörner, Hans Jakob

    2016-08-26

    We report measurements of energy-dependent photoionization delays between the two outermost valence shells of N_{2}O and H_{2}O. The combination of single-shot signal referencing with the use of different metal foils to filter the attosecond pulse train enables us to extract delays from congested spectra. Remarkably large delays up to 160 as are observed in N_{2}O, whereas the delays in H_{2}O are all smaller than 50 as in the photon-energy range of 20-40 eV. These results are interpreted by developing a theory of molecular photoionization delays. The long delays measured in N_{2}O are shown to reflect the population of molecular shape resonances that trap the photoelectron for a duration of up to ∼110 as. The unstructured continua of H_{2}O result in much smaller delays at the same photon energies. Our experimental and theoretical methods make the study of molecular attosecond photoionization dynamics accessible.

  14. Using Internet Artifacts to Profile a Child Pornography Suspect

    Marcus K. Rogers

    2014-03-01

    Full Text Available Digital evidence plays a crucial role in child pornography investigations. However, in the following case study, the authors argue that the behavioral analysis or “profiling” of digital evidence can also play a vital role in child pornography investigations. The following case study assessed the Internet Browsing History (Internet Explorer Bookmarks, Mozilla Bookmarks, and Mozilla History from a suspected child pornography user’s computer. The suspect in this case claimed to be conducting an ad hoc law enforcement investigation. After the URLs were classified (Neutral; Adult Porn; Child Porn; Adult Dating sites; Pictures from Social Networking Profiles; Chat Sessions; Bestiality; Data Cleaning; Gay Porn, the Internet history files were statistically analyzed to determine prevalence and trends in Internet browsing. First, a frequency analysis was used to determine a baseline of online behavior. Results showed 54% (n = 3205 of the URLs were classified as “neutral” and 38.8% (n = 2265 of the URLs were classified as a porn website. Only 10.8% of the URLs were classified as child pornography websites. However when the IE history file was analyzed by visit, or “hit,” count, the Pictures/Profiles (31.5% category had the highest visit count followed by Neutral (19.3%, Gay Porn (17%, and Child Porn (16.6%. When comparing the frequency of URLs to the Hit Count for each pornography type, it was noted that the accused was accessing gay porn, child porn, chat rooms, and picture profiles (i.e., from Facebook more often than adult porn and neutral websites. The authors concluded that the suspect in this case was in fact a child pornography user and not an ad hoc investigator, and the findings from the behavioral analysis were admitted as evidence in the sentencing hearing for this case. The authors believe this case study illustrates the ability to conduct a behavioral analysis of digital evidence. More work is required to further validate the

  15. Mutations of PTPN23 in developmental and epileptic encephalopathy

    Sowada, Nadine

    2017-10-31

    Developmental and epileptic encephalopathies (DEE) are a heterogeneous group of neurodevelopmental disorders with poor prognosis. Recent discoveries have greatly expanded the repertoire of genes that are mutated in epileptic encephalopathies and DEE, often in a de novo fashion, but in many patients, the disease remains molecularly uncharacterized. Here, we describe a new form of DEE in patients with likely deleterious biallelic variants in PTPN23. The phenotype is characterized by early onset drug-resistant epilepsy, severe and global developmental delay, microcephaly, and sometimes premature death. PTPN23 encodes a tyrosine phosphatase with strong brain expression, and its knockout in mouse is embryonically lethal. Structural modeling supports a deleterious effect of the identified alleles. Our data suggest that PTPN23 mutations cause a rare severe form of autosomal-recessive DEE in humans, a finding that requires confirmation.

  16. Participation Patterns of Preschool Children With Intellectual Developmental Disabilities.

    Gilboa, Yafit; Fuchs, Reut

    2018-04-01

    We aim to examine the pattern of participation of children with intellectual developmental disabilities (IDD) or global developmental delay (GDD) in comparison with typically developing preschoolers. In addition, to identify environmental and personal factors associated with their participation, 20 children with mild to moderate GDD or IDD, and 24 age- and gender-matched controls, aged 3 to 6 years, were assessed using the Assessment of Preschool Children's Participation and the Environmental Restriction Questionnaire. Significant differences were found between the groups, both for general scales of participation and for each activity area. For the IDD/GDD group, participation was significantly negatively correlated with environmental restrictions at home. For the control group, participation was correlated with demographic variables. Typically developing children participate at a higher frequency and in a more diverse range of activities compared with children with IDD/GDD. Associations between participation and contextual factors varied depending on the child's health condition.

  17. Dog erythrocyte antigens (DEA) 1, 4, 7 and suspected naturally occurring anti-DEA 7 antibodies in Italian Corso dogs.

    Spada, E; Proverbio, D; Priolo, V; Ippolito, D; Baggiani, L; Perego, R; Pennisi, M G

    2017-04-01

    We sought to determine the prevalence of dog erythrocyte antigen (DEA) 1, 4 and 7 and naturally occurring anti-DEA7 antibodies in Italian Corso dogs. In addition, we correlated DEAs with different epidemiologic variables, compared the prevalence of DEAs against other canine populations and assessed the risk of sensitisation and transfusion reactions (TRs) following unmatched transfusion. Blood samples from 100 Corso dogs were evaluated for DEA 1, 4, 7 and naturally occurring anti-DEA 7 antibodies. Seventy-one percent of samples were DEA 1-negative, 100% tested DEA 4-positive, and 95% tested DEA 7-negative. Suspected anti-DEA7 antibodies were found in 32% dogs. The DEA 1 and 7-negative phenotypes were significantly more common than in most canine populations. When a previously tested Italian canine population was considered as blood donors for Corso dogs, the risk of DEA 1 sensitisation using DEA 1 untyped blood was 29%, and of acute haemolytic TRs after a second untyped DEA 1-incompatible transfusion was 8%. The potential for delayed TRs between DEA 7-negative Corso dogs with suspected naturally occurring anti-DEA 7 antibodies receiving untyped DEA 7-positive blood was 11%. Conversely, when Corso dogs were blood donors for the same population, the risk of DEA 1 sensitisation was 17% and the risk of an acute haemolytic TR after a second DEA 1-incompatible blood transfusion was 3%. Corso dogs can be suitable blood donors. Additional studies are needed to clarify whether the high prevalence of naturally occurring anti-DEA 7 antibodies in this breed could increase their risk of delayed TRs when they are blood recipients. Copyright © 2017 Elsevier Ltd. All rights reserved.

  18. Developmental transcriptome of Aplysia californica'

    Heyland, Andreas; Vue, Zer; Voolstra, Christian R.; Medina, Mó nica; Moroz, Leonid L.

    2010-01-01

    developmental transcriptome with similar studies in the zebra fish Danio rerio, the fruit fly Drosophila melanogaster, the nematode Caenorhabditis elegans, and other studies on molluscs suggests an overall highly divergent pattern of gene regulatory mechanisms

  19. PREVALENCE AND EFFECT OF DEVELOPMENTAL ...

    uvp

    among children might even be higher, as medical and educational systems frequently fail to ... formally diagnosed, but rather described by their teachers as lazy or ..... Developmental Coordination Disorder Questionnaire for Brazilian children.

  20. The Management of Developmental Apraxia.

    Gubbay, S. S.

    1978-01-01

    Of 39 children (5-12 years old) with developmental apraxia and agnosia, who were assessed neurologically, 19 were also given simple standarized tests of motor ability. Journal availability: see EC 112 661. (Author/SBH)

  1. Detection of active bile leak with Gd-EOB-DTPA enhanced MR cholangiography: Comparison of 20–25 min delayed and 60–180 min delayed images

    Cieszanowski, Andrzej; Stadnik, Anna; Lezak, Aleksandra; Maj, Edyta; Zieniewicz, Krzysztof; Rowinska-Berman, Katarzyna; Grudzinski, Ireneusz P.; Krawczyk, Marek; Rowiński, Olgierd

    2013-01-01

    Objectives: The purpose of this study was to assess the value of contrast-enhanced magnetic resonance cholangiography (MRC) performed in different time delays after injection of gadoxetic acid disodium (Gd-EOB-DTPA) for the diagnosis of active bile leak. Methods: This retrospective analysis included Gd-EOB-DTPA enhanced MR images of 34 patients suspected of bile leak. Images were acquired 20–25 min after Gd-EOB-DTPA injection. If there was inadequate contrast in the bile ducts then delayed images after 60–90 min and 150–180 min were obtained. Results were correlated with intraoperative findings, ERCP results, clinical data, laboratory tests, and follow-up examinations. Results: Gd-EOB-DTPA enhanced MRC yielded an overall sensitivity of 96.4%, specificity of 100% and accuracy of 97.1% for the diagnosis of an active bile leak. The sensitivity of 20–25 min delayed MR images was 42.9%, of combined 20–25 min and 60–90 min delayed images was 92.9% and of combined 20–25 min, 60–90 min and 150–180 min delayed images was 96.4%. Conclusions: Gd-EOB-DTPA enhanced MRC utilizing delayed phase images was effective for detecting the presence and location of active bile leaks. The images acquired 60–180 min post-injection enabled identification of bile leaks even in patients with a dilated biliary system or moderate liver dysfunction

  2. Distemper in raccoons and foxes suspected of having rabies

    Habermann, R.T.; Herman, C.M.; Williams, F.P.

    1958-01-01

    1) Twenty-one raccoons and 3 red foxes were collected from areas where suspected rabies occurred. All were found to be nonrabid. 2) Distemper was diagnosed in 14 of the 21 raccoons by demonstrating intracytoplasmic and intranuclear inclusions in the brain and visceral tissues. Two of the 3 foxes were considered to have distemper; the clinical signs were typical and mouse inoculation tests were negative for rabies. 3) Deaths of the other 7 raccoons were attributed to: leishmaniasis 1, gastritis 1, bronchopneumonia 1, parasitism 2, car injury 1; 1 showed no significant lesions. The death of 1 fox was attributed to parasitism. 4) Distemper may be a frequent cause of death in raccoons and foxes, in epizootics which simulate rabies.

  3. Diagnosis of suspected venous thromboembolic disease in pregnancy

    Scarsbrook, A.F.; Evans, A.L.; Owen, A.R.; Gleeson, F.V.

    2006-01-01

    Venous thromboembolic disease is a leading cause of maternal mortality during pregnancy. Early and accurate radiological diagnosis is essential as anticoagulation is not without risk and clinical diagnosis is unreliable. Although the disorder is potentially treatable, unnecessary treatment should be avoided. Most of the diagnostic imaging techniques involve ionizing radiation which exposes both the mother and fetus to finite radiation risks. There is a relative lack of evidence in the literature to guide clinicians and radiologists on the most appropriate method of assessing this group of patients. This article will review the role of imaging of suspected venous thromboembolic disease in pregnant patients, highlight contentious issues such as radiation risk, intravenous contrast use in pregnancy and discuss the published guidelines, as well as suggesting an appropriate imaging algorithm based on the available evidence

  4. Management of suspected monogenic lung fibrosis in a specialised centre

    Raphael Borie

    2017-04-01

    Full Text Available At least 10% of patients with interstitial lung disease present monogenic lung fibrosis suspected on familial aggregation of pulmonary fibrosis, specific syndromes or early age of diagnosis. Approximately 25% of families have an identified mutation in genes mostly involved in telomere homeostasis, and more rarely in surfactant homeostasis. Beyond pathophysiological knowledge, detection of these mutations has practical consequence for patients. For instance, mutations involved in telomere homeostasis are associated with haematological complications after lung transplantation and may require adapted immunosuppression. Moreover, relatives may benefit from a clinical and genetic evaluation that should be specifically managed. The field of genetics of pulmonary fibrosis has made great progress in the last 10 years, raising specific problems that should be addressed by a specialised team.

  5. Bile acid aspiration in suspected ventilator-associated pneumonia.

    Wu, Yu-Chung; Hsu, Po-Kuei; Su, Kang-Cheng; Liu, Lung-Yu; Tsai, Cheng-Chien; Tsai, Shu-Ho; Hsu, Wen-Hu; Lee, Yu-Chin; Perng, Diahn-Warng

    2009-07-01

    The aims of this study were to measure the levels of bile acids in patients with suspected ventilator-associated pneumonia (VAP) and provide a possible pathway for neutrophilic inflammation to explain its proinflammatory effect on the airway. Bile acid levels were measured by spectrophotometric enzymatic assay, and liquid chromatography mass spectrometry was used to quantify the major bile acids. Alveolar cells were grown on modified air-liquid interface culture inserts, and bile acids were then employed to stimulate the cells. Reverse transcriptase polymerase chain reaction and Western blots were used to determine the involved gene expression and protein levels. The mean (+/- SE) concentration of total bile acids in tracheal aspirates was 6.2 +/- 2.1 and 1.1 +/- 0.4 mumol/L/g sputum, respectively, for patients with and without VAP (p VAP group (p aspiration may reduce the intensity of neutrophilic inflammation in intubated and mechanically ventilated patients in the ICU.

  6. [Diagnostic strategy in patients with clinically suspected deep vein thrombosis

    Mantoni, Margit Yvonne; Kristensen, M.; Brogaard, M.H.

    2008-01-01

    INTRODUCTION: The standard method for diagnosing deep vein thrombosis (DVT) involves determination of D-dimer and ultrasound scanning. In an attempt to reduce the number of ultrasound examinations we have supplemented this with a clinical probability estimate for DVT (DVT-score) over one year....... MATERIALS AND METHODS: A total of 508 consecutive patients presenting in the emergency room with suspected DVT had D-dimer and DVT-score performed. Patients with non-elevated D-dimer and a low or moderate DVT score received no treatment. The remainder had ultrasound scanning from the groin to the popliteal...... patients with normal D-dimer had high DVT-scores, none had DVT, so that the benefit from determining DVT-scores was modest. Ultrasound scanning revealed DVT in 85 out of 397 patients with elevated D-dimer. A repeat examination was performed in 91 patients with persisting symptoms, and disclosed DVT in two...

  7. Suspected seminal vesiculitis in an Asian elephant (Elephas maximus).

    Kilburn, Jennifer J; Velguth, Karen E; Backues, Kay A

    2011-09-01

    A 32-year-old male Asian elephant (Elephas maximus) underwent routine transrectal stimulation for semen collection as part of an artificial insemination program. The procedure consisted of a preinsemination semen collection followed by two consecutive days of semen collections for artificial insemination. The second day's sample contained large numbers of inflammatory cells, intracellular bacteria, and phagocytized sperm. Semen was submitted for culture and sensitivity. Culture revealed Acinetobacter lwoffii, Staphylococcus intermedius, Kocuria roseus, and an unidentified gram-positive organism. Empirical antibiotic therapy with trimethoprim sulfa was initiated and then changed to enrofloxacin based on sensitivity panel results for a total of 28 days of treatment. Diagnostic semen collections were performed during treatment and 2 wk posttreatment to determine the success of therapy. Posttreatment collections revealed resolution of the inflammation. The origin of the infection was suspected to be the seminal vesicles.

  8. Unenhanced MR Imaging in adults with clinically suspected acute appendicitis

    Chabanova, Elizaveta; Balslev, Ingegerd; Achiam, Michael

    2011-01-01

    PURPOSE: The purpose of the study was to evaluate unenhanced Magnetic Resonance Imaging (MRI) for the diagnosis of appendicitis or another surgery-requiring condition in an adult population scheduled for emergency appendectomy based on a clinical diagnosis of suspected acute appendicitis. MATERIALS...... radiologists and one surgeon independent of each other and compared with surgical and pathological records. RESULTS: According to the surgical and histopathological findings 30 of 48 patients (63%) had acute appendicitis. Of the remaining 18 patients, 4 patients had no reasons for the clinical symptoms and 14...... patients had other pathology. For the three reviewers the performance of MRI in the diagnosis of acute appendicitis showed the following sensitivity, specificity and accuracy ranges: 83-93%, 50-83% and 77-83%. Moderate (kappa=0.51) and fair (kappa=0.31) interobserver agreements in the MR diagnosis of acute...

  9. Optical spectroscopy of known and suspected Herbig-Haro objects

    Cohen, M.; Fuller, G.A.; California Univ., Berkeley)

    1985-01-01

    Optical spectra of a number of suspected Herbig-Haro objects are presented. From these, the nature of these nebulosities are determined. Several of the nebulae are of very high density, perhaps due to their extreme youth. Extinctions measured toward DG Tau HH and the L1551 IRS 5 optical jet are in each case substantially less than the stellar values. It is suggested that this phenomenon reflects the existence of appreciably thick circumstellar dust disks around these, and two additional, exciting stars. Shock model diagnostics suggest that the emission lines in these Herbig-Haro nebulae arise in modest velocity shocks with sizable preshock densities in several cases. Radial velocities enable lower limits to be placed on the mass loss rates of those stars that have been detected in the radio continuum. 39 references

  10. Developmental toxicity of engineered nanomaterials

    Hougaard, Karin S.; Hansen, Jitka S.; Jackson, Petra

    2016-01-01

    Study of air pollution indicates that minute particles may adversely interfere with pregnancy and fetal development. As engineering of nanoparticles have emerged, so has concern that these might interfere with reproductive and developmental functions. This is because nanotechnology may potentially...... increase the overall particle burden in air and introduce particles with novel characteristics and surface reactivity. To evaluate safety for pregnant women, we have studied developmental toxicity of engineered nanoparticles (ENPs), following exposure of pregnant mice by inhalation (ENPs of titanium...

  11. Developmental toxicity evaluation of three hexabromocyclododecane diastereoisomers on zebrafish embryos

    Du Miaomiao [Key Lab of Urban Environment and Health, Institute of Urban Environment, Chinese Academy of Sciences, Xiamen 361021 (China); Graduate University of Chinese Academy of Sciences, Beijing 100049 (China); Zhang Dandan; Yan Changzhou [Key Lab of Urban Environment and Health, Institute of Urban Environment, Chinese Academy of Sciences, Xiamen 361021 (China); Zhang Xian, E-mail: xzhang@iue.ac.cn [Key Lab of Urban Environment and Health, Institute of Urban Environment, Chinese Academy of Sciences, Xiamen 361021 (China)

    2012-05-15

    Structural dissimilarities of hexabromocyclododecane diastereoisomers could raise substantial differences in physicochemical, biological and toxicological properties. In order to fully assess the environmental safety and health risk of hexabromocyclododecanes (HBCDs), zebrafish embryos were used to evaluate the developmental toxicity of individual HBCD diastereoisomers ({alpha}-HBCD, {beta}-HBCD and {gamma}-HBCD). Four-hour post-fertilization (hpf) zebrafish embryos were exposed to different concentrations of HBCD diastereoisomers (0, 0.01, 0.1 and 1.0 mg/l) until 120 hpf. The results showed that exposure to HBCDs can affect the development of zebrafish embryos/larvae in a dose-dependent and diastereoselective manner. The diastereoisomers {alpha}-, {beta}- and {gamma}-HBCD at 0.01 mg/l had little effect on the development of zebrafish embryos except that exposure to 0.01 mg/l {gamma}-HBCD significantly delayed hatching (P < 0.05). At 0.1 mg/l, {alpha}-HBCD resulted in depressed heart rate of larvae (96 hpf) and delayed hatching, whereas {beta}- and {gamma}-HBCD both caused significant hatching delay and growth inhibition (P < 0.05). In addition, a remarkable and significant increase in mortality and malformation rate was noted at 0.1 mg/l {gamma}-HBCD exposure groups (P < 0.05). At 1.0 mg/l, {alpha}-, {beta}- and {gamma}-HBCD significantly affected all of the endpoints monitored (P < 0.05). Additionally, HBCD diastereoisomers could induce the generation of reactive oxygen species (ROS) and the activities of caspase-3 and caspase-9 in a dose-dependent manner. The results indicated that HBCD diastereoisomers could cause developmental toxicity to zebrafish embryos through inducing apoptosis by ROS formation. The overall results showed a good agreement confirming that the order of developmental toxicity of HBCD diastereoisomers in zebrafish is {gamma}-HBCD > {beta}-HBCD > {alpha}-HBCD.

  12. Investigating suspected acute pulmonary embolism - what are hospital clinicians thinking?

    McQueen, A.S.; Worthy, S.; Keir, M.J.

    2008-01-01

    Aims: To assess local clinical knowledge of the appropriate investigation of suspected acute pulmonary embolism (PE) and this compare with the 2003 British Thoracic Society (BTS) guidelines as a national reference standard. Methods: A clinical questionnaire was produced based on the BTS guidelines. One hundred and eight-six participants completed the questionnaires at educational sessions for clinicians of all grades, within a single NHS Trust. The level of experience amongst participants ranged from final year medical students to consultant physicians. Results: The clinicians were divided into four groups based on seniority: Pre-registration, Junior, Middle, and Senior. Forty-six point eight percent of all the clinicians correctly identified three major risk factors for PE and 25.8% recognized the definition of the recommended clinical probability score from two alternatives. Statements regarding the sensitivity of isotope lung imaging and computed tomography pulmonary angiography (CTPA) received correct responses from 41.4 and 43% of participants, respectively, whilst 81.2% recognized that an indeterminate ventilation-perfusion scintigraphy (V/Q) study requires further imaging. The majority of clinicians correctly answered three clinical scenario questions regarding use of D-dimers and imaging (78, 85, and 57.5%). There was no statistically significant difference between the four groups for any of the eight questions. Conclusions: The recommended clinical probability score was unfamiliar to all four groups of clinicians in the present study, and the majority of doctors did not agree that a negative CTPA or isotope lung scintigraphy reliably excluded PE. However, questions based on clinical scenarios received considerably higher rates of correct responses. The results indicate that various aspects of the national guidelines on suspected acute pulmonary embolism are unfamiliar to many UK hospital clinicians. Further research is needed to identify methods to improve

  13. The impact of ultrasound in suspected acute appendicitis

    Gracey, D.; McClure, M.J.

    2007-01-01

    Aims: To evaluate prospectively the impact of an appendix ultrasound (US) service on the clinical management of patients presenting with suspected acute appendicitis. Materials and methods: The referring clinician completed a proforma for patients presenting with suspected acute appendicitis. Two visual analogue scales assessed clinical suspicion before and after knowledge of laboratory results. The clinician also indicated if they intended to operate had US been unavailable. During a 3-year period, 327 patients were examined by graded-compression US and diagnosed 'positive' or 'negative' for acute appendicitis. Findings were correlated with histopathology results. The referring clinician completed a retrospective audit questionnaire to assess user satisfaction. Results: Clinical suspicion was altered by knowledge of laboratory results. The decision to operate if US had been unavailable, was 'yes' in 70 cases (group A), 'no' in 231 (group B), and incomplete in 26 (group C). In group A, 31 patients (44.3%) had a negative US and 25 avoided surgery. US identified 39 cases of appendicitis and 37 appendicectomies confirmed appendicitis in 34 cases. In group B, 72 (31.2%) patients had a positive US and 66 appendicectomies confirmed 51 cases of appendicitis. The sensitivity of US was 94.7% in group A, 93.3% in group B and 93.8% overall. Specificity was 90.6% in group A, 91.2% in group B and 91.3% overall. US findings were contrary to intended surgical management in 103 cases. Management was altered in 97 cases (32.2%), with a positive outcome in 85 (28.2%). The referrers found US of appendix very useful in planning appropriate management. Conclusion: US of the appendix increases diagnostic accuracy, alters management and is more sensitive and specific than clinical impression, either alone, or in conjunction with laboratory results

  14. Results of photorefractive keratectomy in keratoconus suspects at 4 years.

    Bilgihan, K; Ozdek, S C; Konuk, O; Akata, F; Hasanreisoglu, B

    2000-01-01

    We studied the long-term results of photorefractive keratectomy (PRK) in keratoconus suspects detected by videokeratography (TMS). Bilateral inferior corneal steepening was detected in 6 candidates for PRK presenting with moderate myopia or astigmatism. Mean follow-up was 44.5 +/- 4.4 months (range, 38 to 54 mo). Mean spherical equivalent refraction was -5.18 +/- 1.60 D (mean sphere, -4.73 D; mean cyclinder, -0.92 D) which was stable for at least the preceding year. The quantitative measurement of inferior corneal steepening (I-S value) was greater than +1.60 (mean, 1.83 +/- 0.11) in all eyes. An Aesculap Meditec Mel 60 excimer laser was used for the PRK procedures and mean follow-up was 44.5 months. Postoperative pachymetric measurements were also performed in 6 eyes. Postoperative uncorrected visual acuity was 20/20 in 8 eyes (66.6%) and 20/32 or better in all eyes with a mean postoperative spherical equivalent refraction of -0.70 +/- 0.74 D (mean sphere, -0.63 D; mean cyclinder, -0.39 D). Five eyes (41.6%) were within +/- 0.50 D spherical equivalent refraction. Inferior steepening was associated with thinning of the inferior cornea which was statistically significantly thinner than the superior thickness (Student's t-test, P < .05). There were no wound healing problems or any sign that the excimer laser adversely affected the cornea during follow-up. Photorefractive keratectomy seems to be a safe procedure for reducing or eliminating myopia or astigmatism in keratoconus suspect eyes-most probably forme fruste keratoconus-with a stable refraction, but this may be different in eyes with early keratoconus, known to be a progressive disease.

  15. Evaluation of basophil activation test in suspected food hypersensitivity.

    Pignatti, Patrizia; Yacoub, Mona-Rita; Testoni, Claudia; Pala, Gianni; Corsetti, Maura; Colombo, Giselda; Meriggi, Antonio; Moscato, Gianna

    2017-07-01

    Food hypersensitivity is characterized by a wide range of symptoms. The relationship between symptoms and food is more frequently suspected than objectively proven. Basophil activation test (BAT) is based on the evaluation of activation markers on blood basophils in vitro stimulated with drugs or allergens. The aim of the study was to evaluate the usefulness of BAT when introduced in the routine work-up of suspected food hypersensitivity. BAT was requested in subjects with food adverse reactions when a discrepancy existed among history and skin prick test (SPT) and/or specific IgE. Data from 150 subjects were analysed using CD63 as basophil activation marker. Thirty controls were evaluated for cut-offs. Immunoblots was performed with the sera of representative subjects positive for BAT and negative for SPT and sIgE. 1,024 BAT were carried out, the agreement (positive/positive and negative/negative) was 78.5% for BAT vs. SPT and 78.3% for BAT vs. IgE. Atopic patients, but not atopic controls, more frequently had a positive BAT than non-atopic patients (P tested food) and both negative sIgE and SPT. Immunoblots revealed the presence of sIgE for the tested foods in representative patients with positive BAT, negative SPT and sIgE. Introduction of BAT in routine of food hypersensitivity, limited to subjects with a discrepancy between history and traditional tests, might be useful particularly when total IgE are low. © 2015 International Clinical Cytometry Society. © 2015 International Clinical Cytometry Society.

  16. Reliability of Examination Findings in Suspected Community-Acquired Pneumonia.

    Florin, Todd A; Ambroggio, Lilliam; Brokamp, Cole; Rattan, Mantosh S; Crotty, Eric J; Kachelmeyer, Andrea; Ruddy, Richard M; Shah, Samir S

    2017-09-01

    The authors of national guidelines emphasize the use of history and examination findings to diagnose community-acquired pneumonia (CAP) in outpatient children. Little is known about the interrater reliability of the physical examination in children with suspected CAP. This was a prospective cohort study of children with suspected CAP presenting to a pediatric emergency department from July 2013 to May 2016. Children aged 3 months to 18 years with lower respiratory signs or symptoms who received a chest radiograph were included. We excluded children hospitalized ≤14 days before the study visit and those with a chronic medical condition or aspiration. Two clinicians performed independent examinations and completed identical forms reporting examination findings. Interrater reliability for each finding was reported by using Fleiss' kappa (κ) for categorical variables and intraclass correlation coefficient (ICC) for continuous variables. No examination finding had substantial agreement (κ/ICC > 0.8). Two findings (retractions, wheezing) had moderate to substantial agreement (κ/ICC = 0.6-0.8). Nine findings (abdominal pain, pleuritic pain, nasal flaring, skin color, overall impression, cool extremities, tachypnea, respiratory rate, and crackles/rales) had fair to moderate agreement (κ/ICC = 0.4-0.6). Eight findings (capillary refill time, cough, rhonchi, head bobbing, behavior, grunting, general appearance, and decreased breath sounds) had poor to fair reliability (κ/ICC = 0-0.4). Only 3 examination findings had acceptable agreement, with the lower 95% confidence limit >0.4: wheezing, retractions, and respiratory rate. In this study, we found fair to moderate reliability of many findings used to diagnose CAP. Only 3 findings had acceptable levels of reliability. These findings must be considered in the clinical management and research of pediatric CAP. Copyright © 2017 by the American Academy of Pediatrics.

  17. Cost-effectiveness of routine imaging of suspected appendicitis.

    D'Souza, N; Marsden, M; Bottomley, S; Nagarajah, N; Scutt, F; Toh, S

    2018-01-01

    Introduction The misdiagnosis of appendicitis and consequent removal of a normal appendix occurs in one in five patients in the UK. On the contrary, in healthcare systems with routine cross-sectional imaging of suspected appendicitis, the negative appendicectomy rate is around 5%. If we could reduce the rate in the UK to similar numbers, would this be cost effective? This study aimed to calculate the financial impact of negative appendicectomy at the Queen Alexandra Hospital and to explore whether a policy of routine imaging of such patients could reduce hospital costs. Materials and methods We performed a retrospective analysis of all appendicectomies over a 1-year period at our institution. Data were extracted on outcomes including appendix histology, operative time and length of stay to calculate the negative appendicectomy rate and to analyse costs. Results A total of 531 patients over 5 years of age had an appendicectomy. The negative appendicectomy rate was 22% (115/531). The additional financial costs of negative appendicectomy to the hospital during this period were £270,861. Universal imaging of all patients with right iliac fossa pain that could result in a 5% negative appendicectomy rate would cost between £67,200 and £165,600 per year but could save £33,896 (magnetic resonance imaging), £105,896 (computed tomography) or £132,296 (ultrasound) depending on imaging modality used. Conclusions Negative appendicectomy is still too frequent and results in additional financial burden to the health service. Routine imaging of patients with suspected appendicitis would not only reduce the negative appendicectomy rate but could lead to cost savings and a better service for our patients.

  18. Self-reported mood, general health, wellbeing and employment status in adults with suspected DCD.

    Kirby, Amanda; Williams, Natalie; Thomas, Marie; Hill, Elisabeth L

    2013-04-01

    Developmental Coordination Disorder (DCD) affects around 2-6% of the population and is diagnosed on the basis of poor motor coordination in the absence of other neurological disorders. Its psychosocial impact has been delineated in childhood but until recently there has been little understanding of the implications of the disorder beyond this. This study aims to focus on the longer term impact of having DCD in adulthood and, in particular, considers the effect of employment on this group in relation to psychosocial health and wellbeing. Self-reported levels of life satisfaction, general health and symptoms of anxiety and depression were investigated in a group of adults with a diagnosis of DCD and those with suspected DCD using a number of published self-report questionnaire measures. A comparison between those in and out of employment was undertaken. As a group, the unemployed adults with DCD reported significantly lower levels of life satisfaction. Whilst there was no significant difference between those who were employed and unemployed on General Health Questionnaire scores; both groups reported numbers of health related issues reflective of general health problems in DCD irrespective of employment status. While both groups reported high levels of depressive symptoms and rated their satisfaction with life quite poorly, the unemployed group reported significantly more depressive symptoms and less satisfaction. Additionally, the results identified high levels of self-reported anxiety in both groups, with the majority sitting outside of the normal range using the Hospital Anxiety and Depression Scale. These findings add to the small but increasing body of literature on physical and mental health and wellbeing in adults with DCD. Furthermore, they are the first to provide insight into the possible mediating effects of employment status in adults with DCD. Copyright © 2013 Elsevier Ltd. All rights reserved.

  19. Delays and networked control systems

    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. .

  20. Linear rotary optical delay lines

    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.