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

NARCIS (Netherlands)

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

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

Brain Magnetic Resonance Imaging Findings in Developmentally Delayed Children

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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.

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

African Journals Online (AJOL)

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

Brain MR imaging in children with psychomotor developmental delay

Energy Technology Data Exchange (ETDEWEB)

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

1994-06-01

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

Brain MR imaging in children with psychomotor developmental delay

International Nuclear Information System (INIS)

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

1994-01-01

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

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

Science.gov (United States)

Westgard, Christopher; Alnasser, Yossef

2017-01-01

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

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

Directory of Open Access Journals (Sweden)

Christopher Westgard

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

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

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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.

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

Science.gov (United States)

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.

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

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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.

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

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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

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

International Nuclear Information System (INIS)

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

2017-01-01

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

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

Science.gov (United States)

Sy, Jolene R.; Vollmer, Timothy R.

2012-01-01

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

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

OpenAIRE

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)

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

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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

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

Directory of Open Access Journals (Sweden)

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

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

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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.

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

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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.

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

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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.

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

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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…

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

Science.gov (United States)

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

2014-01-01

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

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

Science.gov (United States)

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

2016-05-01

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

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

OpenAIRE

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...

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

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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.

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

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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.

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

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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.

Menstrual management in developmentally delayed adolescent females.

Science.gov (United States)

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.

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

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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.)

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

International Nuclear Information System (INIS)

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

2011-01-01

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

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

NARCIS (Netherlands)

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,

Significant Sleep Dysregulation in a Toddler With Developmental Delay.

Science.gov (United States)

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

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

OpenAIRE

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...

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

Science.gov (United States)

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

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

Science.gov (United States)

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

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

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

Directory of Open Access Journals (Sweden)

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.

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

Science.gov (United States)

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…

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

NARCIS (Netherlands)

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

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

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

DEFF Research Database (Denmark)

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

2013-01-01

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

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

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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.

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

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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.

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

Science.gov (United States)

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

2017-01-01

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

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

NARCIS (Netherlands)

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

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

Science.gov (United States)

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…

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

Science.gov (United States)

Kurtz-Nelson, E; McIntyre, L L

2017-07-01

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

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

Science.gov (United States)

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.

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

Science.gov (United States)

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.

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

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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

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

Science.gov (United States)

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

2016-08-10

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

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

International Nuclear Information System (INIS)

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.)

Visual Abilities in Children with Developmental Delay

DEFF Research Database (Denmark)

Welinder, Lotte G; Baggesen, Kirsten L

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

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

NARCIS (Netherlands)

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

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

Science.gov (United States)

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

2016-01-01

This prospective, randomized controlled study investigated the effects of short-term interactive video game playing among children with developmental delays participating in traditional rehabilitation treatment at a rehabilitation clinic. One hundred and one boys and 46 girls with a mean age of 5.8 years (range: 3 to 12 years) were enrolled in this study. All patients were confirmed to suffer from developmental delays, and were participating in traditional rehabilitation treatment. Children participated in two periods of 4 weeks each, group A being offered intervention of eight 30-minute sessions of interactive video games in the first period, and group B in the second, in addition to the traditional rehabilitation treatment. The physical, psychosocial, and total health of the children was periodically assessed using the parent-reported Pediatric Quality of Life Inventory-Generic Core Scales (PedsQL); and the children’s upper extremity and physical function, transfer and basic mobility, sports and physical functioning, and global functioning were assessed using the Pediatric Outcomes Data Collection Instrument. Parental impact was evaluated using the PedsQL-Family Impact Module for family function, PedsQL-Health Satisfaction questionnaire for parents’ satisfaction with their children’s care and World Health Organization-Quality of Life-Brief Version for quality of life. Compared with the baseline, significant improvements of physical function were observed in both groups (5.6 ± 19.5, p = 0.013; 4.7 ± 13.8, p = 0.009) during the intervention periods. No significant improvement of psychosocial health, functional performance, or family impact was observed in children with developmental delays. Short-term interactive video game play in conjunction with traditional rehabilitation treatment improved the physical health of children with developmental delays. Trial Registration: ClinicalTrials.gov NCT02184715 PMID:26983099

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

Directory of Open Access Journals (Sweden)

Ru-Lan Hsieh

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

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

Science.gov (United States)

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

2016-01-01

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

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

Science.gov (United States)

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.

Smart Toys Designed for Detecting Developmental Delays.

Science.gov (United States)

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.

Smart Toys Designed for Detecting Developmental Delays

Directory of Open Access Journals (Sweden)

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.

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

Science.gov (United States)

Robinson, Merideth; Neece, Cameron L.

2015-01-01

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

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

Science.gov (United States)

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…

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

Science.gov (United States)

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

2018-02-27

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

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

Science.gov (United States)

Burbridge, Mark; Raazi, Mateen

2013-04-01

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

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

LENUS (Irish Health Repository)

Shahdadpuri, R

2012-02-01

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

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

Science.gov (United States)

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

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

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

Science.gov (United States)

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

2017-04-01

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

Early Intervention in Children with Developmental Disabilities

Directory of Open Access Journals (Sweden)

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.

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

Science.gov (United States)

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,…

Prevalence and sociodemographic determinants of developmental ...

African Journals Online (AJOL)

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

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

Science.gov (United States)

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

1992-01-01

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

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

Science.gov (United States)

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

2017-01-01

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

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

NARCIS (Netherlands)

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

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

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

Science.gov (United States)

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

2016-01-01

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

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

Science.gov (United States)

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,…

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

NARCIS (Netherlands)

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

2015-01-01

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

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

Science.gov (United States)

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.

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

Science.gov (United States)

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

2013-01-01

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

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

Science.gov (United States)

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.

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

Science.gov (United States)

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

2018-03-01

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

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

DEFF Research Database (Denmark)

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

2014-01-01

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

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

Science.gov (United States)

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.

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

LENUS (Irish Health Repository)

Clarke, Mary C

2011-12-01

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

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

Science.gov (United States)

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.

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

Science.gov (United States)

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.

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

Science.gov (United States)

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.

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

International Nuclear Information System (INIS)

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.)

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

Energy Technology Data Exchange (ETDEWEB)

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.)

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

Science.gov (United States)

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

2013-03-01

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

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

Science.gov (United States)

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

2013-12-01

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

Delays in early neuropsychic development: Approaches to diagnosis

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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.

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

Science.gov (United States)

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

2016-07-01

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

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

Science.gov (United States)

Neece, Cameron L.

2014-01-01

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

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

Science.gov (United States)

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

2015-01-01

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

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

OpenAIRE

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...

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

Energy Technology Data Exchange (ETDEWEB)

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

1994-09-01

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

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

Science.gov (United States)

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…

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

Science.gov (United States)

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

2017-01-01

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

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

Science.gov (United States)

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

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

NARCIS (Netherlands)

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

2008-01-01

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

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

Science.gov (United States)

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

2017-11-01

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

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

Science.gov (United States)

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

2014-01-01

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

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

Science.gov (United States)

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

2017-09-01

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.

Developmental Immunotoxicity

Science.gov (United States)

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...

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

OpenAIRE

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...

Developmental delays in emotion regulation strategies in preschoolers with autism.

Science.gov (United States)

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

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

Science.gov (United States)

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

2013-06-01

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

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

Science.gov (United States)

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

2012-09-01

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

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

Science.gov (United States)

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.

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

Science.gov (United States)

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

2009-05-01

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

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

Science.gov (United States)

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

2013-01-01

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

Developmental Trajectories for Children With Dyslexia and Low IQ Poor Readers

Science.gov (United States)

2016-01-01

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

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

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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.

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

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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

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

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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/

Individual Differences in Developmental Change: Quantifying the Amplitude and Heterogeneity in Cognitive Change across Old Age

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Nathalie Mella

2018-02-01

Full Text Available It is well known that cognitive decline in older adults is of smaller amplitude in longitudinal than in cross-sectional studies. Yet, the measure of interest rests generally with aggregated group data. A focus on individual developmental trajectories is rare, mainly because it is difficult to assess intraindividual change reliably. Individual differences in developmental trajectories may differ quantitatively (e.g., larger or smaller decline or qualitatively (e.g., decline vs improvement, as well as in the degree of heterogeneity of change across different cognitive domains or different tasks. The present paper aims at exploring, within the Geneva Variability Study, individual change across several cognitive domains in 92 older adults (aged 59–89 years at baseline over a maximum of seven years and a half. Two novel, complementary methods were used to explore change in cognitive performance while remaining entirely at the intra-individual level. A bootstrap based confidence interval was estimated, for each participant and for each experimental condition, making it possible to define three patterns: stability, increase or decrease in performance. Within-person ANOVAs were also conducted for each individual on all the tasks. Those two methods allowed quantifying the direction, the amplitude and the heterogeneity of change for each individual. Results show that trajectories differed widely among individuals and that decline is far from being the rule.

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

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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…

Mnemonic abilities of primary school children with delayed mental development.

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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

Delay differential systems for tick population dynamics.

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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.

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

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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…

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

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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

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

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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…

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

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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…

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

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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.

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

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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

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

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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.

Effect of Developmental Stimulation Program on the Developmental Measures of Toddlers

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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

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

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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…

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

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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.

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

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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.

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

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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.

Delayed cerebral development in twins with congenital hyperthyroidism.

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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.

The Effect of Cognitive Restructuring on Delay of Gratification.

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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…

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

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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

Tracking and Quantifying Developmental Processes in C. elegans Using Open-source Tools.

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Dutta, Priyanka; Lehmann, Christina; Odedra, Devang; Singh, Deepika; Pohl, Christian

2015-12-16

Quantitatively capturing developmental processes is crucial to derive mechanistic models and key to identify and describe mutant phenotypes. Here protocols are presented for preparing embryos and adult C. elegans animals for short- and long-term time-lapse microscopy and methods for tracking and quantification of developmental processes. The methods presented are all based on C. elegans strains available from the Caenorhabditis Genetics Center and on open-source software that can be easily implemented in any laboratory independently of the microscopy system used. A reconstruction of a 3D cell-shape model using the modelling software IMOD, manual tracking of fluorescently-labeled subcellular structures using the multi-purpose image analysis program Endrov, and an analysis of cortical contractile flow using PIVlab (Time-Resolved Digital Particle Image Velocimetry Tool for MATLAB) are shown. It is discussed how these methods can also be deployed to quantitatively capture other developmental processes in different models, e.g., cell tracking and lineage tracing, tracking of vesicle flow.

Reading in developmental prosopagnosia

DEFF Research Database (Denmark)

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...

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

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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.

Youth Assets and Delayed Coitarche across Developmental Age Groups

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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,…

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

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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...

Mother-Child Interaction and Resilience in Children with Early Developmental Risk

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Fenning, Rachel M.; Baker, Jason K.

2014-01-01

Although prenatal and genetic factors make strong contributions to the emergence of intellectual disability (ID), children's early environment may have the potential to alter developmental trajectories and to foster resilience in children with early risk. The present study examined mother-child interaction and the promotion of competence in 50 children with early developmental delays. Three related but distinct aspects of mother-child interaction were considered: maternal technical scaffolding, maternal positive-sensitivity, and mother-child dyadic pleasure. Children were classified as exhibiting undifferentiated delays at age three based upon performance on developmental assessments and the absence of known genetic syndromes. Mother-child interaction was assessed at age four through observational ratings of structured laboratory tasks and through naturalistic home observations. ID was identified at age five using the dual criteria of clinically significant delays in cognitive functioning and adaptive behavior. Maternal technical scaffolding and dyadic pleasure each uniquely predicted reduced likelihood of later ID, beyond the contributions of children's early developmental level and behavioral functioning. Follow-up analyses suggested that mother-child interaction was primarily important to resilience in the area of adaptive behavior, with scaffolding and dyadic pleasure differentially associated with particular sub-domains. Implications for theories of intellectual disability and for family-based early intervention and prevention efforts are discussed. PMID:22662771

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

Science.gov (United States)

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

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

Science.gov (United States)

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

2017-01-01

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

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

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Akvile Lukoshe

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

Maturational delay in ADHD: Evidence from CPT

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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.

‘Developmental Delay’ Reconsidered: The Critical Role of Age-Dependent, Co-variant Development

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Yonata Levy

2018-04-01

Full Text Available In memory of Annette Karmiloff-Smith.This paper reviews recent neurobiological research reporting structural co-variance and temporal dependencies in age-dependent gene expression, parameters of cortical maturation, long range connectivity and interaction of the biological network with the environment. This research suggests that age by size trajectories of brain structures relate to functional properties more than absolute sizes. In line with these findings, recent behavioral studies of typically developing children whose language development was delayed reported long term consequences of such delays. As for neurodevelopmental disorders, disrupted developmental timing and slow acquisitional pace are hallmarks of these populations. It is argued that these behavioral and neuro-biological results highlight the need to commit to a developmental model which will reflect the fact that temporal dependencies overseeing structural co-variance among developmental components are major regulatory factors of typical development of the brain/mind network. Consequently, the concept of ‘developmental delay’ in developmental theorizing needs to be reconsidered.

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

Science.gov (United States)

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.

MR findings of congenital craniocerebral anomaly: correlation with seizures and development delay

International Nuclear Information System (INIS)

Ko, Seog Wan; Seo, Jeong Jin; Kim, Yun Hyeon; Yoon, Jong Hun; Kim, Hyun Ju; Kim, Hyeong Kil; Kang, Heoung Keun; Chung, Hyon De

1995-01-01

To evaluate characteristic MR findings of craniocerebral anomaly and its relationship with neurologic manifestations. We retrospectively reviewed MR images of 36 patients with craniocerebral anomaly diagnosed by MRI and clinical courses. We correlated the characteristic MR findings in 41 lesions with neurologic manifestations focusing on seizures and developmental delay. Twenty-three patients with seizures consisted of 14 patients(60%) with neuronal migration disorders and seven(30%) with phakomatosis, among which 18 patients(78%) had generalized type of seizures. Locations of the lesions were the parietal lobes in 11 patients(52%) and the subependymal or periventricular regions in seven(33%). Two patients with tuberous sclerosis had the lesions in both parietal and subependymal areas. Nine patients had the signs of developmental delay that were seen in the four(44%) with schizencephaly, two (22%) with tuberous sclerosis, two(22%) with heterotopia, and noe(11%) with pachygyria. Neuronal migration anomaly was relatively common lesion that presented neurologic festations such as seizures and developmental delay. Generalized type of seizures were common. We were able to diagnose these anomalies using the MRI that helped establish therapeutic plans

Developmental delay at 12 months in children born extremely preterm

DEFF Research Database (Denmark)

Lando, Ane; Klamer, Anja; Jonsbo, Finn

2005-01-01

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

Delayed speech development in children: Introduction to terminology

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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.

Viability of developmental stages of Schistosoma mansoni quantified with xCELLigence worm real-time motility assay (xWORM

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Gabriel Rinaldi

2015-12-01

Full Text Available Infection with helminth parasites causes morbidity and mortality in billions of people and livestock worldwide. Where anthelmintic drugs are available, drug resistance is a major problem in livestock parasites, and a looming threat to public health. Monitoring the efficacy of these medicines and screening for new drugs has been hindered by the lack of objective, high-throughput approaches. Several cell monitoring technologies have been adapted for parasitic worms, including video-, fluorescence-, metabolism enzyme- and impedance-based tools that minimize the screening bottleneck. Using the xCELLigence impedance-based system we previously developed a motility-viability assay that is applicable for a range of helminth parasites. Here we have improved substantially the assay by using diverse frequency settings, and have named it the xCELLigence worm real-time motility assay (xWORM. By utilizing strictly standardized mean difference analysis we compared the xWORM output measured with 10, 25 and 50 kHz frequencies to quantify the motility of schistosome adults (human blood flukes and hatching of schistosome eggs. Furthermore, we have described a novel application of xWORM to monitor movement of schistosome cercariae, the developmental stage that is infectious to humans. For all three stages, 25 kHz was either optimal or near-optimal for monitoring and quantifying schistosome motility. These improvements in methodology sensitivity should enhance the capacity to screen small compound libraries for new drugs both for schistosomes and other helminth pathogens at large.

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

Science.gov (United States)

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.

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

Science.gov (United States)

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

2015-01-01

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

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

Directory of Open Access Journals (Sweden)

P Shetty

2012-01-01

Full Text Available Speech and language development is a useful indicator of a child′s overall development and cognitive ability. Identification of children at a risk for developmental delay or related problems may lead to intervention and assistance at a young age, when the chances for improvement are the best. This rationale supports screening of preschool children for speech and language delay or primary language impairment or disorder, which needs to be integrated into routine developmental surveillance practices of clinicians caring for children.

Delay signatures in the chaotic intensity output of a quantum dot ...

Indian Academy of Sciences (India)

Delay identification from the chaotic intensity output of a quantum dot laser with optical feedback is done using numerical and information theoretic techniques. Four quantifiers, namely autocorrelation function, delayed mutual information, permutation entropy and permutation statistical complexity, are employed in delay ...

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

African Journals Online (AJOL)

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.

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

NARCIS (Netherlands)

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

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

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

Science.gov (United States)

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.

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

Science.gov (United States)

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…

Mutations of PTPN23 in developmental and epileptic encephalopathy

KAUST Repository

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

Delayed processing of global shape information in developmental prosopagnosia

DEFF Research Database (Denmark)

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

2017-01-01

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

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

DEFF Research Database (Denmark)

Hardies, Katia; May, Patrick; Djémié, Tania

2015-01-01

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

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

Science.gov (United States)

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.

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

Directory of Open Access Journals (Sweden)

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.

Psychosocial developmental milestones in men with classic galactosemia

NARCIS (Netherlands)

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

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

Directory of Open Access Journals (Sweden)

Laura Ortega-Moreno

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

A developmental screening tool for toddlers with multiple domains based on Rasch analysis.

Science.gov (United States)

Hwang, Ai-Wen; Chou, Yeh-Tai; Hsieh, Ching-Lin; Hsieh, Wu-Shiun; Liao, Hua-Fang; Wong, Alice May-Kuen

2015-01-01

Using multidomain developmental screening tools is a feasible method for pediatric health care professionals to identify children at risk of developmental problems in multiple domains simultaneously. The purpose of this study was to develop a Rasch-based tool for Multidimensional Screening in Child Development (MuSiC) for children aged 0-3 years. The MuSic was developed by constructing items bank based on three commonly used screening tools, validating with developmental status (at risk for delay or not) on five developmental domains. Parents of a convenient sample of 632 children (aged 3-35.5 months) with and without developmental delays responded to items from the three screening tools funded by health authorities in Taiwan. Item bank was determined by item fit of Rasch analysis for each of the five developmental domains (cognitive skills, language skills, gross motor skills, fine motor skills, and socioadaptive skills). Children's performance scores in logits derived in Rasch analysis were validated with developmental status for each domain using the area under receiver operating characteristic curves. MuSiC, a 75-item developmental screening tool for five domains, was derived. The diagnostic validity of all five domains was acceptable for all stages of development, except for the infant stage (≤11 months and 15 days). MuSiC can be applied simultaneously to well-child care visits as a universal screening tool for children aged 1-3 years on multiple domains. Items with sound validity for infants need to be further developed. Copyright © 2014. Published by Elsevier B.V.

Altered developmental timing in early life stages of Antarctic krill (Euphausia superba) exposed to p,p'-DDE

Energy Technology Data Exchange (ETDEWEB)

Poulsen, Anita H., E-mail: anita.poulsen@uq.edu.au [The University of Queensland, National Research Centre for Environmental Toxicology (Entox), 39 Kessels Rd, Brisbane, Qld 4108 (Australia); Kawaguchi, So, E-mail: so.kawaguchi@aad.gov.au [Australian Antarctic Division, Channel Highway, Kingston, Tas 7050 (Australia); Leppaenen, Matti T., E-mail: matti.t.leppanen@uef.fi [University of Eastern Finland, Joensuu Campus, Department of Biology, FIN-80101 (Finland); Kukkonen, Jussi V.K., E-mail: jussi.kukkonen@uef.fi [University of Eastern Finland, Joensuu Campus, Department of Biology, FIN-80101 (Finland); Bengtson Nash, Susan M., E-mail: s.bengtsonnash@griffith.edu.au [The University of Queensland, National Research Centre for Environmental Toxicology (Entox), 39 Kessels Rd, Brisbane, Qld 4108 (Australia); Griffith University, Atmospheric Environment Research Centre, Brisbane, Qld 4111 (Australia)

2011-11-15

Persistent organic pollutants (POPs) are persistent, toxic and bioaccumulative anthropogenic organic chemicals, capable of undergoing long range environmental transport to remote areas including the Antarctic. p,p'-dichlorodiphenyl dichloroethylene (p,p'-DDE) has been identified as a dominant POP accumulating in Antarctic krill (Euphausia superba), which is a key Southern Ocean species. This study examined the developmental toxicity of p,p'-DDE via aqueous exposure to Antarctic krill larvae. p,p'-DDE exposure was found to stimulate developmental timing in the first three larval stages of Antarctic krill, while extended monitoring of larvae after a five day exposure period had ended, revealed delayed inhibitory responses during development to the fourth larval stage. Stimulatory responses were observed from the lowest p,p'-DDE body residue tested of 10.1 {+-} 3.0 {mu}mol/kg (3.2 {+-} 0.95 mg/kg) preserved wet weight, which is comparable to findings for temperate species and an order of magnitude lower than the exposure level found to cause sublethal behavioural effects in Antarctic krill. The delayed responses included increased mortality, which had doubled in the highest p,p'-DDE treatment (95 {+-} 8.9% mortality at 20 {mu}g/L p,p'-DDE) compared to the solvent control (44 {+-} 11% mortality) 2 weeks after end of exposure. Development of surviving metanauplius larvae to calyptopis 1 larvae was delayed by 2 days in p,p'-DDE exposed larvae compared with untreated larvae. Finally, the developmental success of surviving p,p'-DDE exposed larvae was reduced by 50 to 75% compared to the solvent control (100% developmental success). The lowest observed effect concentration for all delayed effects was 1 {mu}g/L, the lowest exposure concentration tested. These findings demonstrate the importance of delayed and indirect effects of toxicant exposure. Further, the findings of this study are important for environmental risk assessment

Assessing the Developmental Neurotoxicity of 27 ...

Science.gov (United States)

Assessing the Developmental Neurotoxicity of 27 Organophosphorus Pesticides Using a Zebrafish Behavioral Assay, Waalkes, M., Hunter, D.L., Jarema, K., Mundy, W., and S. Padilla. The U.S. Environmental Protection Agency is evaluating methods to screen and prioritize organophosphorus pesticides for developmental neurotoxicity. As such, we are exploring a behavioral testing paradigm that can assess the effects of sublethal and subteratogenic concentrations of developmental neurotoxicants on zebrafish (Danio rerio). This in vivo assay quantifies the locomotor response to light stimuli under tandem light and dark conditions in a 96-well plate using a video tracking system on 6 day post fertilization zebrafish larvae. Each of twenty-seven organophosphorus pesticides was tested for their developmental neurotoxic potential by exposing zebrafish embryos/larvae to the pesticide at several concentrations (≤ 100 μM nominal concentration) during the first five days of development, followed by 24 hours of depuration and then behavioral testing. Approximately 22% of the chemicals (Acephate, Dichlorvos, Diazoxon, Bensulide,Tribufos, Tebupirimfos) did not produce any behavioral changes after developmental exposure, while many (Malaoxon Fosthiazate, Dimethoate, Dicrotophos, Ethoprop, Malathion, Naled, Diazinon, Methamidophos, Terbufos, Trichlorfon, Phorate, Pirimiphos-methyl, Profenofos, Z-Tetrachlorvinphos, Chlorpyrifos, Coumaphos, Phosmet, Omethoate) produced changes in swi

Understanding the reasons for delay to definitive surgical care of ...

African Journals Online (AJOL)

Background. Acute appendicitis in rural South Africa is associated with significant morbidity due to prolonged delays before definitive surgical care. Objective. This audit aimed to quantify the delay in our healthcare system. Methods. From September 2010 to September 2012, all patients with confirmed acute appendicitis ...

System delays in breast cancer | Dalwai | South African Journal of ...

African Journals Online (AJOL)

Background: Centralised multidisciplinary management of breast cancer occurs in KwaZulu-Natal, South Africa, and requires a diagnostic and staging pathway at the referring hospital. Delays in this pathway are unknown. This study, conducted at a referring hospital, R K Khan (RKK), quantifies and analyses these delays.

Individual development of preschool children-prevalences and determinants of delays in Germany: a cross-sectional study in Southern Bavaria

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Stich Heribert L

2012-12-01

Full Text Available Abstract Background Even minor abnormalities of early child development may have dramatic long term consequences. Accurate prevalence rates for a range of developmental impairments have been difficult to establish. Since related studies have used different methodological approaches, direct comparisons of the prevalence of developmental delays are difficult. The understanding of the key factors affecting child development, especially in preschool aged children remains limited. We used data from school entry examinations in Bavaria to measure the prevalence of developmental impairments in pre-school children beginning primary school in 1997–2009. Methods The developmental impairments of all school beginners in the district of Dingolfing- Landau, Bavaria were assessed using modified “Bavarian School Entry Model” examination from 1997 to 2009 (N=13,182. The children were assessed for motor, cognitive, language and psychosocial impairments using a standardised medical protocol. Prevalence rates of impairments in twelve domains of development were estimated. Using uni- and multivariable logistic regression models, association between selected factors and development delays were assessed. Results The highest prevalence existed for impairments of pronunciation (13.8% followed by fine motor impairments (12.2%, and impairments of memory and concentration (11.3% and the lowest for impairments of rhythm of speech (3.1%. Younger children displayed more developmental delays. Male gender was strongly associated with all developmental impairments (highest risk for fine motor impairments = OR 3.22, 95% confidence interval 2.86-3.63. Preschool children with siblings (vs. children without any siblings were at higher risk of having impairments in pronunciation (OR 1.31, 1.14-1.50. The influence of the non-German nationality was strong, with a maximum risk increase for the subareas of grammar and psychosocial development. Although children with non

Individual development of preschool children-prevalences and determinants of delays in Germany: a cross-sectional study in Southern Bavaria.

Science.gov (United States)

Stich, Heribert L; Baune, Bernhard Th; Caniato, Riccardo N; Mikolajczyk, Rafael T; Krämer, Alexander

2012-12-05

Even minor abnormalities of early child development may have dramatic long term consequences. Accurate prevalence rates for a range of developmental impairments have been difficult to establish. Since related studies have used different methodological approaches, direct comparisons of the prevalence of developmental delays are difficult. The understanding of the key factors affecting child development, especially in preschool aged children remains limited. We used data from school entry examinations in Bavaria to measure the prevalence of developmental impairments in pre-school children beginning primary school in 1997-2009. The developmental impairments of all school beginners in the district of Dingolfing-Landau, Bavaria were assessed using modified "Bavarian School Entry Model" examination from 1997 to 2009 (N=13,182). The children were assessed for motor, cognitive, language and psychosocial impairments using a standardised medical protocol. Prevalence rates of impairments in twelve domains of development were estimated. Using uni- and multivariable logistic regression models, association between selected factors and development delays were assessed. The highest prevalence existed for impairments of pronunciation (13.8%) followed by fine motor impairments (12.2%), and impairments of memory and concentration (11.3%) and the lowest for impairments of rhythm of speech (3.1%). Younger children displayed more developmental delays. Male gender was strongly associated with all developmental impairments (highest risk for fine motor impairments = OR 3.22, 95% confidence interval 2.86-3.63). Preschool children with siblings (vs. children without any siblings) were at higher risk of having impairments in pronunciation (OR 1.31, 1.14-1.50). The influence of the non-German nationality was strong, with a maximum risk increase for the subareas of grammar and psychosocial development. Although children with non-German nationality had a reduced risk of disorders for the rhythm

Association of Automatically Quantified Total Blood Volume after Aneurysmal Subarachnoid Hemorrhage with Delayed Cerebral Ischemia

NARCIS (Netherlands)

Zijlstra, I. A.; Gathier, C. S.; Boers, A. M.; Marquering, H. A.; Slooter, A. J.; Velthuis, B. K.; Coert, B. A.; Verbaan, D.; van den Berg, R.; Rinkel, G. J.; Majoie, C. B.

2016-01-01

The total amount of extravasated blood after aneurysmal subarachnoid hemorrhage, assessed with semiquantitative methods such as the modified Fisher and Hijdra scales, is known to be a predictor of delayed cerebral ischemia. However, prediction rates of delayed cerebral ischemia are moderate, which

Early motor developmental milestones and level of neuroticism in young adulthood

DEFF Research Database (Denmark)

Flensborg-Madsen, Trine; Sørensen, Holger Jelling; Revsbech, Rasmus

2012-01-01

intelligence. CONCLUSIONS: The findings are the first of their kind and suggest that delays in early motor development may not only characterize psychopathological disorders such as schizophrenia, but may also be associated with the personality dimension of neuroticism in adulthood.......BACKGROUND: Studies investigating early developmental factors in relation to psychopathology have mainly focused on schizophrenia. The personality dimension of neuroticism seems to be a general risk factor for psychopathology, but evidence on associations between early developmental precursors...... and personality traits is almost non-existent. This study is therefore the first to investigate associations between early motor developmental milestones and neuroticism in adulthood. Method Mothers of 9125 children of the Copenhagen Perinatal Cohort recorded 12 developmental milestones during the child's first...

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

Science.gov (United States)

Milojevich, H.; Lukowski, A.

2016-01-01

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

Visual search guidance is best after a short delay

OpenAIRE

Schmidt, Joseph; Zelinsky, Gregory J.

2011-01-01

Search displays are typically presented immediately after a target cue, but in the real-world, delays often exist between target designation and search. Experiments 1 and 2 asked how search guidance changes with delay. Targets were cued using a picture or text label, each for 3000ms, followed by a delay up to 9000ms before the search display. Search stimuli were realistic objects, and guidance was quantified using multiple eye movement measures. Text-based cues showed a non-significant trend ...

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

Science.gov (United States)

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.

DEVELOPMENTAL FOLLOW-UP OF A FEMALE INFANT WITH RECOMBINANT DOWN SYNDROME UP TO THREE AND A HALF YEARS

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Darija Strah

2018-02-01

Full Text Available Background: Recombinant Down Syndrome with partial duplication of the long arm of chromosome 21 represents a rare form of partial trisomy 21. The cause is mostly chromosome rearrangement- pericentric inversion of maternal or paternal homologous chromosome 21 and duplication of Down syndrome critical region p11.1q22.1, resulting in a child with phenotypical signs of classical Down syndrome with psychomotorical developmental delay. Methods: We describe a Down sydrome female infant with partial trisomy of chromosome 21. Ultra- sound screening for Down syndrome in the first trimester of pregnancy determined high risk for chromosomal abnormality. Amniocentesis showed normal prenatal karyotype. After birth a female infant started to show symptoms and signs, typical for classical Down syndrome. Postnatal karyotype revealed pericentric inversion and duplication of one chro- mosome 21 of maternal origin in the p11.1q22.1 region. The follow up of female infant up to three and a half years shows signs of psychomotorical delay with no structural defects. Therefore her developmental amelioration is less expressed compared to classical Down syndrome. Conclusions: Developmental follow up of a girl with partial trisomy 21 reveals a lot of similarities with the development of children with classical trisomy 21, but less expressed: facial gestalt, short statue, hypotonia and intellectual disabilities. Global developmental delay in spite of developmental treatment grows more and more evidently.

Developmental status of preschool children receiving cART: a descriptive cohort study.

Science.gov (United States)

Potterton, J; Hilburn, N; Strehlau, R

2016-05-01

HIV is known to cause neurodevelopmental problems in infants and young children. The impact of HIV on the development of preschool-age children has been less well described. The study was conducted at an urban paediatric HIV clinic in Johannesburg, South Africa. A sample of convenience was used. Sixty-eight medically stable children between the ages of 3 and 5 years were assessed with the Griffiths Scales of Mental Development. Children were excluded from the study if they had severe HIV encephalopathy, which made it impossible for them to participate in the items on the Griffiths Scales of Mental Development. The children had started combination antiretroviral treatment (cART) at a mean age of 8.1 months. The majority of the children were virologically suppressed and did not present with wasting or stunting. Severe overall developmental delay (z-scores perception were the most severely affected. Personal-social development was the least affected with only 13.4% of the children demonstrating severe delay. Despite having early access to cART, children infected with HIV are still at risk for severe developmental delay across a number of facets. Very early initiation of cART may help alleviate this problem. All preschool children infected with HIV should have routine developmental screening. © 2016 John Wiley & Sons Ltd.

Developmental finite element analysis of cichlid pharyngeal jaws: Quantifying the generation of a key innovation

Science.gov (United States)

Müller, Gerd B.

2018-01-01

Advances in imaging and modeling facilitate the calculation of biomechanical forces in biological specimens. These factors play a significant role during ontogenetic development of cichlid pharyngeal jaws, a key innovation responsible for one of the most prolific species diversifications in recent times. MicroCT imaging of radiopaque-stained vertebrate embryos were used to accurately capture the spatial relationships of the pharyngeal jaw apparatus in two cichlid species (Haplochromis elegans and Amatitlania nigrofasciata) for the purpose of creating a time series of developmental stages using finite element models, which can be used to assess the effects of biomechanical forces present in a system at multiple points of its ontogeny. Changes in muscle vector orientations, bite forces, force on the neurocranium where cartilage originates, and stress on upper pharyngeal jaws are analyzed in a comparative context. In addition, microCT scanning revealed the presence of previously unreported cement glands in A. nigrofasciata. The data obtained provide an underrepresented dimension of information on physical forces present in developmental processes and assist in interpreting the role of developmental dynamics in evolution. PMID:29320528

Developmental finite element analysis of cichlid pharyngeal jaws: Quantifying the generation of a key innovation.

Directory of Open Access Journals (Sweden)

Tim Peterson

Full Text Available Advances in imaging and modeling facilitate the calculation of biomechanical forces in biological specimens. These factors play a significant role during ontogenetic development of cichlid pharyngeal jaws, a key innovation responsible for one of the most prolific species diversifications in recent times. MicroCT imaging of radiopaque-stained vertebrate embryos were used to accurately capture the spatial relationships of the pharyngeal jaw apparatus in two cichlid species (Haplochromis elegans and Amatitlania nigrofasciata for the purpose of creating a time series of developmental stages using finite element models, which can be used to assess the effects of biomechanical forces present in a system at multiple points of its ontogeny. Changes in muscle vector orientations, bite forces, force on the neurocranium where cartilage originates, and stress on upper pharyngeal jaws are analyzed in a comparative context. In addition, microCT scanning revealed the presence of previously unreported cement glands in A. nigrofasciata. The data obtained provide an underrepresented dimension of information on physical forces present in developmental processes and assist in interpreting the role of developmental dynamics in evolution.

Influence of gap-scale disturbance on developmental and successional pathways in Quercus-Pinus stands

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T.A. Weber; J.L. Hart; C. Schweitzer; D.C. Dey

2014-01-01

Quercus-Pinus forests of the eastern USA cover millions of hectares and span a variety of ecoregions. Understanding the influence of natural disturbance on developmental and successional pathways is important for managers that wish to sustain Pinus spp. in these mixtures. Quantifying developmental and successional patterns in this...

Effects of television exposure on developmental skills among young children.

Science.gov (United States)

Lin, Ling-Yi; Cherng, Rong-Ju; Chen, Yung-Jung; Chen, Yi-Jen; Yang, Hei-Mei

2015-02-01

Literature addressing the effects of television exposure on developmental skills of young children less than 36 months of age is scarce. This study explored how much time young children spend viewing television and investigated its effects on cognitive, language, and motor developmental skills. Data were collected from the Pediatric Clinics at University Medical Center in Southern Taiwan. The participants comprised 75 children who were frequently exposed to television and 75 children who were not or infrequently exposed to television between 15 and 35 months old. The age and sex were matched in the two groups. The Bayley Scales of Infant Development-second edition and Peabody Developmental Motor Scales-second edition were used to identify developmental skills. Independent t-tests, χ(2) tests, and logistic regression models were conducted. Among 75 children who were frequently exposed to television, young children watched a daily average of 67.4 min of television before age 2, which was excessive according to the American Academy of Pediatrics. Viewing television increased the risk of delayed cognitive, language, and motor development in children who were frequently exposed to television. Cognitive, language, and motor delays in young children were significantly associated with how much time they spent viewing television. The type of care providers was critical in determining the television-viewing time of children. We recommend that pediatric practitioners explain the impacts of television exposure to parents and caregivers to ensure cognitive, language, and motor development in young children. Advocacy efforts must address the fact that allowing young children to spend excessive time viewing television can be developmentally detrimental. Copyright © 2014 Elsevier Inc. All rights reserved.

Quantifying infant physical interactions using sensorized toys in a natural play environment.

Science.gov (United States)

Goyal, Vatsala; Torres, Wilson; Rai, Roshan; Shofer, Frances; Bogen, Daniel; Bryant, Phillip; Prosser, Laura; Johnson, Michelle J

2017-07-01

Infants with developmental delays must be detected early in their development to minimize the progression of motor and neurological impairments. Our objective is to quantify how sensorized toys in a natural play environment can promote infant-toy physical interactions. We created a hanging elephant toy, equipped with an inertial measurement unit (IMU), a pressure transducer, and multiple feedback sensors, to be a hand-grasping toy. We used a 3 DoF robotic model with inputs from the IMU to calculate multiple kinematic metrics and an equation to calculate haptic metrics from the pressure transducer. Six typical infants were tested in the gym set-up. Three infants interacted with the toy for more than half the trial time. The youngest infant exhibited the largest toy displacement with ΔD = 27.6 cm, while the oldest infant squeezed the toy with the largest mean pressure of 4.5 kPa. More data on on both typical and atypical infants needs to be collected. After testing atypical infants in the SmarToyGym set-up, we will be able to identify interaction metrics that differentiate atypical and typical infants.

Intolerance to Delayed Reward in Girls with Multiple Suicide Attempts

Science.gov (United States)

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

2011-01-01

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

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

Science.gov (United States)

Dornelas, Lílian de Fátima; Magalhães, Lívia de Castro

2016-01-01

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

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

Science.gov (United States)

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.

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

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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.

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

Science.gov (United States)

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.

Delayed processing of global shape information in developmental prosopagnosia

DEFF Research Database (Denmark)

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...

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

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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

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

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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

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

NARCIS (Netherlands)

Zwanenburg, Renée J; Ruiter, Selma A J; van den Heuvel, Edwin R; Flapper, Boudien C T; Van Ravenswaaij-Arts, Conny M A

2016-01-01

Background: Phelan- McDermid syndrome (PMS) or 22q13.3 deletion syndrome is characterized by global developmental delay, cognitive deficits, and behaviour in the autism spectrum. Knowledge about developmental and behavioural characteristics of this rare chromosomal disorder is still limited despite

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

NARCIS (Netherlands)

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

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

Science.gov (United States)

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.

Delay-Limited Capacity in the Low Power Regime

KAUST Repository

Rezki, Zouheir; Alouini, Mohamed-Slim

2016-01-01

provide a simple characterization of the outage probability in the regime of interest. We quantify the reward due to CSI-TR over the constant-rate constant-power scheme and show that this reward increases with the delay constraint. For instance

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

NARCIS (Netherlands)

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

Impact of a "No Mobile Device" Policy on Developmental Surveillance in a Pediatric Clinic.

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Regan, Paul A; Fogel, Benjamin S; Hicks, Steven D

2018-04-01

Children commonly use mobile devices at pediatric office visits. This practice may affect patient-provider interaction and undermine accuracy of developmental surveillance. A randomized, provider-blinded, controlled trial examined whether a policy prohibiting mobile device use in a pediatric clinic improved accuracy of pediatricians' developmental surveillance. Children, aged 18 to 36 months, were randomized to device-prohibited (intervention; n = 58) or device-allowed (control; n = 54) groups. After a 30-minute well-visit, development was evaluated as "normal," "borderline," or "delayed" in 5 categories using the Ages and Stages Questionnaire (ASQ-3). ASQ-3 results were compared with providers' clinical assessment in each category. Provider-ASQ discrepancies were more common for intervention participants ( P = .025). Providers "missed" more ASQ-3 "delayed" scores ( P = .005) in the intervention group, particularly in the fine motor domain ( P = .018). Prohibiting mobile device use at well-visits did not improve accuracy of providers' developmental surveillance. Mobile devices may entertain children at well-visits, allowing opportunities for parent-provider discussion, or observation of fine motor skills.

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

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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.

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

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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.

Larval developmental rate, metabolic rate and future growth performance in Atlantic salmon

DEFF Research Database (Denmark)

Serrano, Jonathan Vaz; Åberg, Madelene; Gjoen, Hans Magnus

2009-01-01

, quantified as time to first feeding, and growth in later stages was demonstrated in Atlantic salmon (Salmo salar L.). The observed relationship between future growth and larval developmental rate suggests that sorting larvae by time to first feeding can be a potential tool to optimize feeding strategies...... and growth in commercial rearing of Atlantic salmon. Furthermore, the link between larval standard metabolic rate and developmental rate and future growth is discussed in the present study....

Developmental toxicity evaluation of three hexabromocyclododecane diastereoisomers on zebrafish embryos

Energy Technology Data Exchange (ETDEWEB)

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.

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

Science.gov (United States)

Davis, Allyson L.; Neece, Cameron L.

2017-01-01

Introduction: Studies have shown that parents of children with pervasive developmental disorders (PDD) exhibit higher levels of stress than parents of typically developing children or children with other types of developmental delays (DD). This relationship appears to be mediated by elevated levels of behavior problems observed in children with…

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

Science.gov (United States)

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

2017-05-17

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

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

Science.gov (United States)

Brown, Michelle J.

2018-01-01

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

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

Science.gov (United States)

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…

Letter and Colour Matching Tasks: Parametric Measures of Developmental Working Memory Capacity

Directory of Open Access Journals (Sweden)

Tamara L. Powell

2014-01-01

Full Text Available We investigated the mediating role of interference in developmental assessments of working memory (WM capacity across childhood, adolescence, and young adulthood. One hundred and forty-two participants completed two versions of visuospatial (colour matching task, CMT and verbal (letter matching task, LMT WM tasks, which systematically varied cognitive load in a high and low interference condition. Results showed similar developmental trajectories across high interference contexts (CMT- and LMT-Complex and divergent developmental growth patterns across low interference contexts (CMT- and LMT-Simple. Performance on tasks requiring greater cognitive control was in closer agreement with developmental predictions relative to simple recall guided tasks that rely solely on the storage components of WM. These findings suggest that developmental WM capacity, as measured by the CMT and LMT paradigms, can be better quantified using high interference contexts, in both content domains, and demonstrate steady increases in WM through to mid-adolescence.

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

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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.

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

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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.

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

Science.gov (United States)

Ayoob, Keith-Thomas; And Others

1994-01-01

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

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

DEFF Research Database (Denmark)

Lando, Ane; Klamer, Anja; Jonsbo, Finn

2005-01-01

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

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

Science.gov (United States)

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.

Quantitative developmental transcriptomes of the Mediterranean sea urchin Paracentrotus lividus.

Science.gov (United States)

Gildor, Tsvia; Malik, Assaf; Sher, Noa; Avraham, Linor; Ben-Tabou de-Leon, Smadar

2016-02-01

Embryonic development progresses through the timely activation of thousands of differentially activated genes. Quantitative developmental transcriptomes provide the means to relate global patterns of differentially expressed genes to the emerging body plans they generate. The sea urchin is one of the classic model systems for embryogenesis and the models of its developmental gene regulatory networks are of the most comprehensive of their kind. Thus, the sea urchin embryo is an excellent system for studies of its global developmental transcriptional profiles. Here we produced quantitative developmental transcriptomes of the sea urchin Paracentrotus lividus (P. lividus) at seven developmental stages from the fertilized egg to prism stage. We generated de-novo reference transcriptome and identified 29,817 genes that are expressed at this time period. We annotated and quantified gene expression at the different developmental stages and confirmed the reliability of the expression profiles by QPCR measurement of a subset of genes. The progression of embryo development is reflected in the observed global expression patterns and in our principle component analysis. Our study illuminates the rich patterns of gene expression that participate in sea urchin embryogenesis and provide an essential resource for further studies of the dynamic expression of P. lividus genes. Copyright © 2015 Elsevier B.V. All rights reserved.

Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies

Directory of Open Access Journals (Sweden)

Guillermo Lay-Son

2015-04-01

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

Early developmental characteristics and features of major depressive disorder among child psychiatric patients in Hungary.

Science.gov (United States)

Kapornai, Krisztina; Gentzler, Amy L; Tepper, Ping; Kiss, Eniko; Mayer, László; Tamás, Zsuzsanna; Kovacs, Maria; Vetró, Agnes

2007-06-01

We investigate the relations of early atypical characteristics (perinatal problems, developmental delay, and difficult temperament) and onset-age (as well as severity of) first major depressive disorder (MDD) and first internalizing disorder in a clinical sample of depressed children in Hungary. Participants were 371 children (ages 7-14) with MDD, and their biological mothers, recruited through multiple clinical sites. Diagnoses (via DSM-IV criteria) and onset dates of disorders were finalized "best estimate" psychiatrists, and based on multiple information sources. Mothers provided developmental data in a structured interview. Difficult temperament predicted earlier onset of MDD and first internalizing disorder, but its effect was ameliorated if the family was intact during early childhood. Further, the importance of difficult temperament decreased as a function of time. Perinatal problems and developmental delay did not impact onset ages of disorders, and none of the early childhood characteristics associated with MDD episode severity. Children with MDD may have added disadvantage of earlier onset if they had a difficult temperament in infancy. Because early temperament mirrors physiological reactivity and regulatory capacity, it can affect various areas of functioning related to psychopathology. Early caregiver stability may attenuate some adverse effects of difficult infant temperament.

Individual development of preschool children-prevalences and determinants of delays in Germany: a cross-sectional study in Southern Bavaria

OpenAIRE

Stich, Heribert L; Baune, Bernhard Th; Caniato, Riccardo N; Mikolajczyk, Rafael T; Kr?mer, Alexander

2012-01-01

Abstract Background Even minor abnormalities of early child development may have dramatic long term consequences. Accurate prevalence rates for a range of developmental impairments have been difficult to establish. Since related studies have used different methodological approaches, direct comparisons of the prevalence of developmental delays are difficult. The understanding of the key factors affecting child development, especially in preschool aged children remains limited. We used data fro...

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

NARCIS (Netherlands)

Ali, A.A.

2014-01-01

Sub-Saharan Africa is home to millions of HIV-affected children. These children are likely to experience multiple developmental delays. In this chapter, I present data highlighting compromised neurobehavioral, mental health, and scholastic outcomes for children affected by HIV. Furthermore, I

Developmental Screening Disparities for Languages Other than English and Spanish.

Science.gov (United States)

Knuti Rodrigues, Kristine; Hambidge, Simon J; Dickinson, Miriam; Richardson, Douglas B; Davidson, Arthur J

2016-01-01

Limited English proficiency (LEP) is a known barrier to preventive care. Children from families with LEP face socioeconomic circumstances associated with increased odds of developmental delays and decreased participation in early care and education programs. Little is known about developmental surveillance and screening for children from families who speak languages other than English and Spanish. We sought to compare developmental surveillance and screening at well-child visits (WCVs) by preferred parental language. Using a retrospective cohort (n = 15,320) of children aged 8 to 40 months with ≥2 WCVs from January 1, 2006, to July 1, 2010, in a community health system, 450 children from 3 language groups (150 English, 150 Spanish, and 150 non-English, non-Spanish) were randomly selected. Chart review assessed 2 primary outcomes, developmental surveillance at 100% of WCVs and screened with a standardized developmental screening tool, and also determined whether children were referred for diagnostic developmental evaluation. Bivariate and multiple logistic regression analyses were conducted. Compared to the English-speaking group, the non-English, non-Spanish group had lower odds of receiving developmental surveillance at 100% of WCVs (odds ratio, 0.3; 95% confidence interval, 0.2, 0.5) and of being screened with a standardized developmental screening tool (odds ratio, 0.1; 95% confidence interval, 0.1, 0.2). There were no differences between the English- and Spanish-speaking groups. Though underpowered, no differences were found for referral. Improved developmental surveillance and screening are needed for children from families who speak languages other than English and Spanish. Lack of statistically significant differences between English- and Spanish-speaking groups suggests that improved translation and interpretation resources may decrease disparities. Copyright © 2016 Academic Pediatric Association. Published by Elsevier Inc. All rights reserved.

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

Science.gov (United States)

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…

Developmental reversals in recognition memory in children and adults.

Science.gov (United States)

Gross, Julien; Gardiner, Beatrix; Hayne, Harlene

2016-01-01

Older members of a given species typically exhibit superior learning and memory abilities relative to younger members, however, the developmental difference does not always occur in this younger-to-older direction. Developmental reversals are thought to reflect adaptive responses to the unique challenges imposed by the infant's niche. In humans, identification of developmental reversals has largely been precluded because infants, children, and adults are rarely tested using the same experimental procedures. Here, we adapted the visual recognition memory task and tested 3-year-olds and adults using one set of child-oriented stimuli and one set of adult-orientated stimuli. When tested immediately, children and adults exhibited recognition memory for both stimuli. When tested after a 1-week delay, children exhibited recognition memory for the child-oriented stimuli, but not for the adult-oriented stimuli and adults exhibited recognition memory for the adult-oriented stimuli, but not for the child-oriented stimuli. These data have important implications for current theories of memory development. © 2015 Wiley Periodicals, Inc.

Attainment of gross motor milestones in children with Down syndrome in Kosovo - developmental perspective.

Science.gov (United States)

Beqaj, Samire; Jusaj, Njomza; Živković, Vujica

2017-08-01

Aim To investigate the age (in months) at which motor skills are developed in children with Down syndrome (DS), and compare it to the age of the development of the same skills in both, children with typical development (TD), and children with DS reported by four other studies. Methods Sixteen children (7 girls and 9 boys) were monthly assessed for the development of nineteen motor skills between 2008 and 2011. The mean ages when the skills were accomplished were presented using descriptive statistics. Independent T-samples test (significance skills. No significant difference was found between developmental age in children from the present study and children with DS from other studies. Conclusion The rate of attainment of motor skills is delayed in children with DS in comparison to children with TD, however, the developmental sequence is the same. The delayed development is more prominent in more complex skills. Copyright© by the Medical Assotiation of Zenica-Doboj Canton.

Mobile social network services for families with children with developmental disabilities.

Science.gov (United States)

Chou, Li-Der; Lai, Nien-Hwa; Chen, Yen-Wen; Chang, Yao-Jen; Yang, Jyun-Yan; Huang, Lien-Fu; Chiang, Wen-Ling; Chiu, Hung-Yi; Shin, Haw-Yun

2011-07-01

As Internet technologies evolve, their applications have changed various aspects of human life. Here, we attempt to examine their potential impact on services for families with developmentally delayed children. Our research is thus designed to utilize wireless mobile communication technologies, location services, and search technology in an effort to match families of specific needs with potential care providers. Based on the investigation conducted by our counselors, this paper describes a platform for smooth communication between professional communities and families with children with developmental disabilities (CDD). This research also looks into the impact of management of mobile social network services and training on the operation of these services. Interaction opportunities, care, and support to families with CDD are introduced.

Early detection of communication delays with the PEDS tools in at-risk South African infants

Directory of Open Access Journals (Sweden)

Jeannie van der Linde

2016-04-01

Method: A comparative study design evaluated the accuracy of the PEDS tools to detect communication delays, using an internationally accepted diagnostic assessment tool, the Rossetti Infant-Toddler Language Scale (RITLS. A convenience sample of 201 infants was selected at primary healthcare clinics. Results: Expressive and receptive language sensitivity scores were low across all three screens(ranging between 14% and 44%. The PEDS tools had high sensitivity (71% and specificity (73% ratings for the receptive and expressive language and socio-emotional domain in combination. Conclusion: In the sample population, the PEDS tools did not accurately detect receptive and expressive language delays; however, communication delays in general were identified. Future research determining accuracy of the PEDS, PEDS-Developmental Milestones and PEDS tools for children aged 2–5 years in detecting communication delays should be prioritised.

Time delay between cardiac and brain activity during sleep transitions

NARCIS (Netherlands)

Long, X.; Arends, J.B.A.M.; Aarts, R.M.; Haakma, R.; Fonseca, P.; Rolink, J.

2015-01-01

Human sleep consists of wake, rapid-eye-movement (REM) sleep, and non-REM (NREM) sleep that includes light and deep sleep stages. This work investigated the time delay between changes of cardiac and brain activity for sleep transitions. Here, the brain activity was quantified by

Executive functioning in preschool children: performance on A-not-B and other delayed response format tasks.

Science.gov (United States)

Espy, K A; Kaufmann, P M; McDiarmid, M D; Glisky, M L

1999-11-01

The A-not-B (AB) task has been hypothesized to measure executive/frontal lobe function; however, the developmental and measurement characteristics of this task have not been investigated. Performances on AB and comparison tasks adapted from developmental and neuroscience literature was examined in 117 preschool children (ages 23-66 months). Age significantly predicted performance on AB, Delayed Alternation, Spatial Reversal, Color Reversal, and Self-Control tasks. A four-factor analytic model best fit task performance data. AB task indices loaded on two factors with measures from the Self-Control and Delayed Alternation tasks, respectively. AB indices did not load with those from the reversal tasks despite similarities in task administration and presumed cognitive demand (working memory). These results indicate that AB is sensitive to individual differences in age-related performance in preschool children and suggest that AB performance is related to both working memory and inhibition processes in this age range.

A developmental perspective on neuroeconomic mechanisms of contingency management.

Science.gov (United States)

Stanger, Catherine; Budney, Alan J; Bickel, Warren K

2013-06-01

This paper provides a developmental overview of relevant theory and research on delay discounting and neuroeconomics, and their implications for contingency management (CM) approaches to treatment. Recent advances in the neuroscience of decision making have the potential to inform treatment development for adolescent substance use in general, and CM treatments in particular. CM interventions may be informed by research on delay discounting, a type of decision making that reflects how individuals value immediate versus delayed rewards. Delay discounting reliably distinguishes substance abusers from nonabusers and is a significant predictor of individual differences in response to substance use treatments. Discounting may also be important in predicting response to CM, as CM attempts to directly influence this decision-making process, shifting the preference from the immediate rewards of use to delayed rewards for choosing not to use. Multiple neural processes underlie decision making, and those processes have implications for adolescent substance abuse. There are significant neurodevelopmental processes that differentiate adolescents from adults. These processes are implicated in delay discounting, suggesting that adolescence may reflect a period of plasticity in temporal decision making. Understanding the neural mechanisms of delay discounting has led to promising working memory interventions directly targeting the executive functions that underlie individual choices. These interventions may be particularly helpful in combination with CM interventions that offer immediate rewards for brief periods of abstinence, and may show particular benefit in adolescence due to the heightened neural plasticity of systems that underlie temporal discounting in adolescence. 2013 APA, all rights reserved

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

Science.gov (United States)

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.

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

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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...

Isolating the delay component of impulsive choice in adolescent rats

Directory of Open Access Journals (Sweden)

Jesse eMcClure

2014-01-01

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

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

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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…

RNAi Screen in Drosophila melanogastor Identifies Regulators of Steroidogenesis and Developmental Maturation

DEFF Research Database (Denmark)

Danielsen, Erik Thomas

and duration required for juvenile-adult transition. This PhD project demonstrates the power of Drosophila genetics by taking an in vivo genome-wide RNAi screening approach to uncover genes required for the function of steroid producing tissue and developmental maturation. In total, 1909 genes were found...... to be required for the prothoracic gland function and affected the developmental timing for the juvenile-adult transition. Among the screen hits, we focused on an uncharacterized gene, sit (CG5278), which is highly expressed in the gland and is required for ecdysone production. Sit is a homolog of mammalian very...... flux of cholesterol uptake in the gland cells and affected the endosomal trafficking. Therefore this gene was suggested to be named stuck in traffic (sit). Sit’s role in cholesterol uptake was also supported by the observation that the developmental delayed phenotype from loss of sit expression...

Reading in Developmental Prosopagnosia: Evidence for a Dissociation Between Word and Face Recognition

DEFF Research Database (Denmark)

Starrfelt, Randi; Klargaard, Solja; 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...

Mutations of PTPN23 in developmental and epileptic encephalopathy

KAUST Repository

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.

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

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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…

Modeling the Developmental Patterns of Auditory Evoked Magnetic Fields in Children

OpenAIRE

Kotecha, Rupesh; Pardos, Maria; Wang, Yingying; Wu, Ting; Horn, Paul; Brown, David; Rose, Douglas; deGrauw, Ton; Xiang, Jing

2009-01-01

BACKGROUND: As magnetoencephalography (MEG) is of increasing utility in the assessment of deficits and development delays in brain disorders in pediatrics, it becomes imperative to fully understand the functional development of the brain in children. METHODOLOGY: The present study was designed to characterize the developmental patterns of auditory evoked magnetic responses with respect to age and gender. Sixty children and twenty adults were studied with a 275-channel MEG system. CONCLUSIONS:...

Developmental pathways in infants from 4 to 24 months.

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Valla, L; Birkeland, M S; Hofoss, D; Slinning, K

2017-07-01

There has been limited epidemiological research describing population-based samples regarding developmental pathways throughout infancy, and the research that exists has revealed substantial diversity. Identifying predictors for developmental pathways can inform early intervention services. The Ages and Stages Questionnaire was used to measure communication, gross motor, fine motor, problem-solving and personal-social skills longitudinally in a large, population-based sample of 1555 infants recruited from well-baby clinics in five municipalities in southeast Norway. We conducted latent class analyses to identify common pathways within the five developmental areas. Our results indicated that most classes of infants showed generally positive and stable normative developmental pathways. However, for communication and gross motor areas, more heterogeneity was found. For gross motor development, a class of 10% followed a U-shaped curve. A class of 8% had a declining communication pathway and did not reach the level of the high stable communication class at 24 months. Low gestational age, low Apgar score, male sex, maternal depression symptoms, non-Scandinavian maternal ethnicity and high maternal education significantly predict less beneficial communication pathways. The results suggest that infants with low gestational age, low Apgar score, male sex and a mother with depression symptoms or non-Scandinavian ethnicity may be at risk of developing less beneficial developmental pathways, especially within the communication area. Targeting these infants for surveillance and support might be protective against delayed development in several areas during a critical window of development. © 2017 John Wiley & Sons Ltd.

Relation between Time Perspective and Delay Discounting: A Literature Review

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Teuscher, Ursina; Mitchell, Suzanne H.

2011-01-01

In this article, we examine the relation between delay discounting and future time perspective by reviewing how these concepts have been measured and quantified in order to assess their conceptual similarities. The extent to which the different measures are empirically related is reviewed by describing studies that have assessed both constructs…

Developmental Exposure to an Environmental PCB Mixture ...

Science.gov (United States)

Developmental PCB exposure impairs hearing and induces brainstem audiogenic seizures in adult offspring. The degree to which this enhanced susceptibility to seizure is manifest in other brain regions has not been examined. Thus, electrical kindling of the amygdala was used to evaluate the effect of developmental exposure to an environmentally relevant PCB mixture on seizure susceptibility in the rat. Female Long-Evans rats were dosed orally with 0 or 6 mg/kg/day of the PCB mixture dissolved in corn oil vehicle during the perinatal period. On postnatal day (PND) 21, pups were weaned, and two males from each litter were randomly selected for the kindling study. As adults, the male rats were implanted bilaterally with electrodes in the basolateral amygdala. For each animal, afterdischarge (AD) thresholds in the amygdala were determined on the first day of testing followed by once daily stimulation at a standard 200 µA stimulus intensity until three stage 5 generalized seizures (GS) ensued. Developmental PCB exposure did not affect the AD threshold or total cumulative AD duration, but PCB exposure did increase the latency to behavioral manifestations of seizure propagation. PCB exposed animals required significantly more stimulations to reach stage 2 seizures compared to control animals, indicating an attenuated focal (amygdala) excitability. A delay in kindling progression from a focally stimulated limbic site stands in contrast to our previous finding of increase

Latent class analysis of early developmental trajectory in baby siblings of children with autism.

Science.gov (United States)

Landa, Rebecca J; Gross, Alden L; Stuart, Elizabeth A; Bauman, Margaret

2012-09-01

Siblings of children with autism (sibs-A) are at increased genetic risk for autism spectrum disorders (ASD) and milder impairments. To elucidate diversity and contour of early developmental trajectories exhibited by sibs-A, regardless of diagnostic classification, latent class modeling was used. Sibs-A (N = 204) were assessed with the Mullen Scales of Early Learning from age 6 to 36 months. Mullen T scores served as dependent variables. Outcome classifications at age 36 months included: ASD (N = 52); non-ASD social/communication delay (broader autism phenotype; BAP; N = 31); and unaffected (N = 121). Child-specific patterns of performance were studied using latent class growth analysis. Latent class membership was then related to diagnostic outcome through estimation of within-class proportions of children assigned to each diagnostic classification. A 4-class model was favored. Class 1 represented accelerated development and consisted of 25.7% of the sample, primarily unaffected children. Class 2 (40.0% of the sample), was characterized by normative development with above-average nonverbal cognitive outcome. Class 3 (22.3% of the sample) was characterized by receptive language, and gross and fine motor delay. Class 4 (12.0% of the sample), was characterized by widespread delayed skill acquisition, reflected by declining trajectories. Children with an outcome diagnosis of ASD were spread across Classes 2, 3, and 4. Results support a category of ASD that involves slowing in early non-social development. Receptive language and motor development is vulnerable to early delay in sibs-A with and without ASD outcomes. Non-ASD sibs-A are largely distributed across classes depicting average or accelerated development. Developmental trajectories of motor, language, and cognition appear independent of communication and social delays in non-ASD sibs-A. © 2012 The Authors. Journal of Child Psychology and Psychiatry © 2012 Association for Child and Adolescent Mental Health.

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

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Kiely B

2016-07-01

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

Photoemission and photoionization time delays and rates

Science.gov (United States)

Gallmann, L.; Jordan, I.; Wörner, H. J.; Castiglioni, L.; Hengsberger, M.; Osterwalder, J.; Arrell, C. A.; Chergui, M.; Liberatore, E.; Rothlisberger, U.; Keller, U.

2017-01-01

Ionization and, in particular, ionization through the interaction with light play an important role in fundamental processes in physics, chemistry, and biology. In recent years, we have seen tremendous advances in our ability to measure the dynamics of photo-induced ionization in various systems in the gas, liquid, or solid phase. In this review, we will define the parameters used for quantifying these dynamics. We give a brief overview of some of the most important ionization processes and how to resolve the associated time delays and rates. With regard to time delays, we ask the question: how long does it take to remove an electron from an atom, molecule, or solid? With regard to rates, we ask the question: how many electrons are emitted in a given unit of time? We present state-of-the-art results on ionization and photoemission time delays and rates. Our review starts with the simplest physical systems: the attosecond dynamics of single-photon and tunnel ionization of atoms in the gas phase. We then extend the discussion to molecular gases and ionization of liquid targets. Finally, we present the measurements of ionization delays in femto- and attosecond photoemission from the solid–vacuum interface. PMID:29308414

Photoemission and photoionization time delays and rates

Directory of Open Access Journals (Sweden)

L. Gallmann

2017-11-01

Full Text Available Ionization and, in particular, ionization through the interaction with light play an important role in fundamental processes in physics, chemistry, and biology. In recent years, we have seen tremendous advances in our ability to measure the dynamics of photo-induced ionization in various systems in the gas, liquid, or solid phase. In this review, we will define the parameters used for quantifying these dynamics. We give a brief overview of some of the most important ionization processes and how to resolve the associated time delays and rates. With regard to time delays, we ask the question: how long does it take to remove an electron from an atom, molecule, or solid? With regard to rates, we ask the question: how many electrons are emitted in a given unit of time? We present state-of-the-art results on ionization and photoemission time delays and rates. Our review starts with the simplest physical systems: the attosecond dynamics of single-photon and tunnel ionization of atoms in the gas phase. We then extend the discussion to molecular gases and ionization of liquid targets. Finally, we present the measurements of ionization delays in femto- and attosecond photoemission from the solid–vacuum interface.

Participation Patterns of Preschool Children With Intellectual Developmental Disabilities.

Science.gov (United States)

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.

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

Science.gov (United States)

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…

Ignition delay of combustible materials in normoxic equivalent environments

Science.gov (United States)

Sara McAllister; Carlos Fernandez-Pello; Gary Ruff; David Urban

2009-01-01

Material flammability is an important factor in determining the pressure and composition (fraction of oxygen and nitrogen) of the atmosphere in the habitable volume of exploration vehicles and habitats. The method chosen in this work to quantify the flammability of a material is by its ease of ignition. The ignition delay time was defined as the time it takes a...

A quantitative study of brain perfusion patterns of 99mTc-ECD SPECT in children with developmental disabilities

International Nuclear Information System (INIS)

Hirano, Keiko; Aiba, Hideo; Oguro, Katsuhiko

2004-01-01

The aim of this study was to investigate the relationship between developmental disabilities and brain perfusion patterns. We performed technetium-99m-ethylcysteinate dimer ( 99m Tc-ECD) single photon emission computed tomography (SPECT) in 30 children with neurological disorders using the Patlak plot method. In children without developmental disabilities, the distribution of regional cortical perfusion evolved in relation to brain maturation. At one month of age, there was a predominant uptake in the perirolandic cortex. Radionuclide uptake in both the parietal and occipital cortices became evident by three months. Uptake in the temporal and frontal cortex increased by 6 and 11 months, respectively. Brain perfusion showed a pattern similar to that of adults by two years of age at the latest. In children with developmental disabilities, developmental changes of brain perfusion were delayed compared to normally developing children. Brain SPECT is a useful tool to assess the brain maturation in children with developmental disabilities. (author)

Effects of overweight and obesity on motor and mental development in infants and toddlers.

Science.gov (United States)

Cataldo, R; Huang, J; Calixte, R; Wong, A T; Bianchi-Hayes, J; Pati, S

2016-10-01

A consequence of childhood obesity may be poor developmental outcomes. This study aimed to examine the relationship between weight and developmental delays in young children. We conducted a secondary analysis of the Early Childhood Longitudinal Study Birth Cohort data. Logistic regression models quantified the association between different weight statuses (normal weight obese ≥95th percentile for weight) and delays in motor and mental development. Children classified as overweight in both waves had higher percentages of delays in wave 2 (motor [7.5 vs. 6.2-6.4%], mental [8.6 vs. 5.9-6.7%]), as well as wave 1 and/or wave 2 (motor [14.8 vs. 10.9-13.0%], mental [11.9 vs. 9.0-10.1%]), compared with other children. This association was also found in children who were obese at both time points in wave 2 (motor delay [8.9 vs. 4.9-7.3%], mental delay [10.3 vs. 6.0-7.2%]), as well as wave 1 and/or wave 2 (motor delay [14.5 vs. 10.9-12.9%], mental delay [14.1 vs. 9.4-10.1%]). In the adjusted models, children classified as always obese were more likely to have a mental delay in wave 2 (adjusted odds ratio [aOR] 1.89, 95% confidence interval [CI]: 1.21-2.95) as well as wave 1 and/or wave 2 (aOR 1.56, 95% CI: 1.08-2.26). These children were also more likely to have motor delay (aOR 1.47, 95% CI: 1.02-2.13) in wave 1 and/or wave 2. Overweight children are more likely than their normal-weight peers to have motor and mental developmental delays. Preventing obesity during infancy may facilitate reducing developmental delays in young children. © 2015 World Obesity.

Visual search guidance is best after a short delay.

Science.gov (United States)

Schmidt, Joseph; Zelinsky, Gregory J

2011-03-25

Search displays are typically presented immediately after a target cue, but in the real-world, delays often exist between target designation and search. Experiments 1 and 2 asked how search guidance changes with delay. Targets were cued using a picture or text label, each for 3000ms, followed by a delay up to 9000ms before the search display. Search stimuli were realistic objects, and guidance was quantified using multiple eye movement measures. Text-based cues showed a non-significant trend towards greater guidance following any delay relative to a no-delay condition. However, guidance from a pictorial cue increased sharply 300-600ms after preview offset. Experiment 3 replicated this guidance enhancement using shorter preview durations while equating the time from cue onset to search onset, demonstrating that the guidance benefit is linked to preview offset rather than a more complete encoding of the target. Experiment 4 showed that enhanced guidance persists even with a mask flashed at preview offset, suggesting an explanation other than visual priming. We interpret our findings as evidence for the rapid consolidation of target information into a guiding representation, which attains its maximum effectiveness shortly after preview offset. Copyright © 2011 Elsevier Ltd. All rights reserved.

Hot and cool executive function in children and adolescents with autism spectrum disorder: Cross-sectional developmental trajectories.

Science.gov (United States)

Kouklari, Evangelia-Chrysanthi; Tsermentseli, Stella; Monks, Claire P

2017-10-20

The development of executive function (EF) in autism spectrum disorder (ASD) has only been investigated using "cool"-cognitive-EF tasks. Little is known about the development of "hot"-affective-EF and whether it follows a similar developmental pathway. This study employed a cross-sectional developmental trajectories approach to examine the developmental changes in cool (working memory, inhibition, and planning) and hot EF (delay discounting and affective decision-making) of ASD participants (n = 79) and controls (n = 91) relative to age and IQ, shedding more light on the hot-cool EF organization. The developmental trajectories of some aspects of cool EF (working memory and planning) differed significantly as a function of age in ASD participants relative to controls. For both hot EFs, no significant age-related changes were found in either group. These findings extend our understanding regarding the maturation of EF from childhood through adolescence in ASD.

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

Directory of Open Access Journals (Sweden)

Guillaume Jedraszak

2015-01-01

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

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

Science.gov (United States)

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

2007-01-01

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

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

Science.gov (United States)

Seager, Emily; Abbot-Smith, Kirsten

2017-01-01

Language comprehension delays in pre-schoolers are predictive of difficulties in a range of developmental domains. In England, early years practitioners are required to assess the language comprehension of 2-year-olds in their care. Many use a format based on the Early Years Foundation Stage Unique Child Communication Sheet (EYFS:UCCS) in which…

Selecting score types for longitudinal evaluations: the responsiveness of the Comprehensive Developmental Inventory for Infants and Toddlers in children with developmental disabilities

Directory of Open Access Journals (Sweden)

Tsai YP

2016-05-01

Full Text Available Yu-Pei Tsai,1,2 Li-Chen Tung,1,3 Ya-Chen Lee,4 Yu-Lin Wang,1,5 Yun-Shan Yen,1 Kuan-Lin Chen4,6 1Department of Physical Medicine and Rehabilitation, Chi-Mei Medical Center, Tainan, 2Department of Special Education, National Chiayi University, Chiayi, 3School of Medicine, Chung Shan Medical University, Taichung, 4Department of Occupational Therapy, College of Medicine, National Cheng Kung University, 5Department of Sports Management, Chia Nan University of Pharmacy and Science, 6Department of Physical Medicine and Rehabilitation, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan Objective: The objective of this study was to examine the responsiveness of the Comprehensive Developmental Inventory for Infants and Toddlers (CDIIT in children with developmental disabilities (DD.Methods: The responsiveness of a measure is its ability to detect change over time, and it is fundamental to an outcome measure for detecting changes over time. We compared the responsiveness of four types of scores (ie, raw scores, developmental ages [DAs], percentile ranks [PRs], and developmental quotients [DQs] in the five subtests of the CDIIT. The CDIIT was administrated three times at intervals of 3 months on 32 children with DD aged between 5 months and 64 months (mean =30.6, standard deviation [SD] =17.8. The CDIIT is a pediatric norm-referenced assessment commonly used for clinical diagnosis of developmental delays in five developmental areas: cognition, language, motor, social, and self-care skills. The responsiveness was analyzed using three methods: effect size, standardized response mean, and paired t-test.Results: The effect size results showed that at the 3-month and 6-month follow-ups, responsiveness was small or moderate in the raw scores and DAs of most of the subtest scores of the CDIIT, but the level of responsiveness varied in the PRs and DQs. The standardized response mean results of the 3-month

Constructivist developmental theory is needed in developmental neuroscience

Science.gov (United States)

Arsalidou, Marie; Pascual-Leone, Juan

2016-12-01

Neuroscience techniques provide an open window previously unavailable to the origin of thoughts and actions in children. Developmental cognitive neuroscience is booming, and knowledge from human brain mapping is finding its way into education and pediatric practice. Promises of application in developmental cognitive neuroscience rests however on better theory-guided data interpretation. Massive amounts of neuroimaging data from children are being processed, yet published studies often do not frame their work within developmental models—in detriment, we believe, to progress in this field. Here we describe some core challenges in interpreting the data from developmental cognitive neuroscience, and advocate the use of constructivist developmental theories of human cognition with a neuroscience interpretation.

Patient and professional delay in the referral trajectory of patients with diabetic foot ulcers

NARCIS (Netherlands)

Sanders, A.P.; Stoeldraaijers, L.G.M.C.; Pero, M.W.M.; Hermkes, P.J.; Carolina, R.C.A.; Elders, P.J.M.

2013-01-01

Aims: A cohort study investigated referral and treatment trajectories of patients with diabetic foot ulceration consulting podiatrists. The study aims were to quantify patient, professional and treatment (=total) delay and to identify relationships between patient- or professional-related

Time to pediatric epilepsy surgery is longer and developmental outcomes lower for government compared with private insurance.

Science.gov (United States)

Hauptman, Jason S; Dadour, Andrew; Oh, Taemin; Baca, Christine B; Vickrey, Barbara G; Vassar, Stefanie; Sankar, Raman; Salamon, Noriko; Vinters, Harry V; Mathern, Gary W

2013-07-01

It is unclear if socioeconomic factors like type of insurance influence time to referral and developmental outcomes for pediatric patients undergoing epilepsy surgery. This study determined whether private compared with state government insurance was associated with shorter intervals of seizure onset to surgery and better developmental quotients for pediatric patients undergoing epilepsy surgery. A consecutive cohort (n = 420) of pediatric patients undergoing epilepsy surgery were retrospectively categorized into those with Medicaid (California Children's Services; n = 91) or private (Preferred Provider Organization, Health Maintenance Organization, Indemnity; n = 329) insurance. Intervals from seizure onset to referral and surgery and Vineland developmental assessments were compared by insurance type with the use of log-rank tests. Compared with private insurance, children with Medicaid had longer intervals from seizure onset to referral for evaluation (log-rank test, P = .034), and from seizure onset to surgery (P = .017). In a subset (25%) that had Vineland assessments, children with Medicaid compared with private insurance had lower Vineland scores presurgery (P = .042) and postsurgery (P = .003). Type of insurance was not associated with seizure severity, types of operations, etiology, postsurgical seizure-free outcomes, and complication rate. Compared with Medicaid, children with private insurance had shorter intervals from seizure onset to referral and to epilepsy surgery, and this was associated with lower Vineland scores before surgery. These findings may reflect delayed access for uninsured children who eventually obtained state insurance. Reasons for the delay and whether longer intervals before epilepsy surgery affect long-term cognitive and developmental outcomes warrant further prospective investigations.

Comparison of motor delays in young children with fetal alcohol syndrome to those with prenatal alcohol exposure and with no prenatal alcohol exposure.

Science.gov (United States)

Kalberg, Wendy O; Provost, Beth; Tollison, Sean J; Tabachnick, Barbara G; Robinson, Luther K; Eugene Hoyme, H; Trujillo, Phyllis M; Buckley, David; Aragon, Alfredo S; May, Philip A

2006-12-01

Researchers are increasingly considering the importance of motor functioning of children with fetal alcohol spectrum disorder (FASD). The purpose of this study was to assess the motor development of young children with fetal alcohol syndrome (FAS) to determine the presence and degree of delay in their motor skills and to compare their motor development with that of matched children without FAS. The motor development of 14 children ages 20 to 68 months identified with FAS was assessed using the Vineland Adaptive Behavior Scales (VABS). In addition, 2 comparison groups were utilized. Eleven of the children with FAS were matched for chronological age, gender, ethnicity, and communication age to: (1) 11 children with prenatal alcohol exposure who did not have FAS and (2) 11 matched children without any reported prenatal alcohol exposure. The motor scores on the VABS were compared among the 3 groups. Most of the young children with FAS in this study showed clinically important delays in their motor development as measured on the VABS Motor Domain, and their fine motor skills were significantly more delayed than their gross motor skills. In the group comparisons, the young children with FAS had significantly lower Motor Domain standard (MotorSS) scores than the children not exposed to alcohol prenatally. They also had significantly lower Fine Motor Developmental Quotients than the children in both the other groups. No significant group differences were found in gross motor scores. For MotorSS scores and Fine Motor Developmental Quotients, the means and standard errors indicated a continuum in the scores from FAS to prenatal alcohol exposure to nonexposure. These findings strongly suggest that all young children with FAS should receive complete developmental evaluations that include assessment of their motor functioning, to identify problem areas and provide access to developmental intervention programs that target deficit areas such as fine motor skills. Fine motor

High Expression of Pitx-2 in the ICAT-deficient Metanephros Leads to Developmental Arrest

International Nuclear Information System (INIS)

Hasegawa, Yoshimi; Iizuka-Kogo, Akiko; Akiyama, Tetsu; Senda, Takao

2010-01-01

ICAT (Inhibitor of β-catenin and T cell factor) inhibits the interaction between β-catenin and TCF/LEF transcription factor and serves as a negative regulator of Wnt signaling. In a subset of ICAT knockout mice, significant delay in the ureteric bud branching and renal agenesis are observed. In order to examine the process of this developmental defect, molecular changes were analyzed in fetal ICAT–/– kidneys with a focus on Wnt-signaling associated factors. The protein level of active β-catenin was elevated in ICAT–/– kidneys. DNA microarray and immunohistochemical analyses revealed that the expression of a Wnt target gene Pitx-2 was enhanced in ICAT–/– kidneys. There was no genotypic difference in the expression level of another Wnt target gene, c-Ret. These results suggest that the enhancement of Pitx-2 expression induced by activated Wnt signaling leads to delays in ureteric bud branching and subsequent renal agenesis. In the ICAT–/– kidneys which developed to E18.5 without any apparent defect, renal glomeruli, convoluted tubules and collecting ducts were decreased in density and showed abnormal structure. ICAT may be required for various developmental stages during renal development

A Developmental Study of Static Postural Control and Superimposed Arm Movements in Normal and Slowly Developing Children.

Science.gov (United States)

Fisher, Janet M.

Selected electromyographic parameters underlying static postural control in 4, 6, and 8 year old normally and slowly developing children during performance of selected arm movements were studied. Developmental delays in balance control were assessed by the Cashin Test of Motor Development (1974) and/or the Williams Gross Motor Coordination Test…

Microcystin-LR exposure induces developmental neurotoxicity in zebrafish embryo

International Nuclear Information System (INIS)

Wu, Qin; Yan, Wei; Liu, Chunsheng; Li, Li; Yu, Liqin; Zhao, Sujuan; Li, Guangyu

2016-01-01

Microcystin-LR (MCLR) is a commonly acting potent hepatotoxin and has been pointed out of potentially causing developmental neurotoxicity, but the exact mechanism is little known. In this study, zebrafish embryos were exposed to 0, 0.8, 1.6 or 3.2 mg/L MCLR for 120 h. MCLR exposure through submersion caused serious hatching delay and body length decrease. The content of MCLR in zebrafish larvae was analyzed and the results demonstrated that MCLR can accumulate in zebrafish larvae. The locomotor speed of zebrafish larvae was decreased. Furthermore, the dopamine and acetylcholine (ACh) content were detected to be significantly decreased in MCLR exposure groups. And the acetylcholinesterase (AChE) activity was significantly increased after exposure to 1.6 and 3.2 mg/L MCLR. The transcription pattern of manf, chrnα7 and ache gene was consistent with the change of the dopamine content, ACh content and AChE activity. Gene expression involved in the development of neurons was also measured. α1-tubulin and shha gene expression were down-regulated, whereas mbp and gap43 gene expression were observed to be significantly up-regulated upon exposure to MCLR. The above results indicated that MCLR-induced developmental toxicity might attribute to the disorder of cholinergic system, dopaminergic signaling, and the development of neurons. - Highlights: • MCLR accumulation induces developmental neurotoxicity in zebrafish embryo. • The decrease of dopamine levels might be associated with the MCLR-induced developmental neurotoxicity in zebrafish larvae. • The alternation of cholinergic system might contribute to the change of neurobehavior in zebrafish larvae exposure with MCLR. - MCLR accumulation induces developmental neurotoxicity by affecting cholinergic system, dopaminergic signaling, and the development of neurons in zebrafish embryo.

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

Science.gov (United States)

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.

Is schizophrenia developmental adaptation to environmental menaces?

Science.gov (United States)

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.

Psychometric Properties of a Standardized Observation Protocol to Quantify Pediatric Physical Therapy Actions.

Science.gov (United States)

Sonderer, Patrizia; Akhbari Ziegler, Schirin; Gressbach Oertle, Barbara; Meichtry, André; Hadders-Algra, Mijna

2017-07-01

Pediatric physical therapy (PPT) is characterized by heterogeneity. This blurs the evaluation of effective components of PPT. The Groningen Observation Protocol (GOP) was developed to quantify contents of PPT. This study assesses the reliability and completeness of the GOP. Sixty infant PPT sessions were video-taped. Two random samples of 10 videos were used to determine interrater and intrarater reliability using interclass correlation coefficients (ICCs) with 95% confidence intervals. Completeness of GOP 2.0 was based on 60 videos. Interrater reliability of quantifying PPT actions was excellent (ICC, 0.75-1.0) in 71% and sufficient to good (ICC, 0.4-0.74) in 24% of PPT actions. Intrarater reliability was excellent in 94% and sufficient to good in 6% of PPT actions. Completeness was good for greater than 90% of PPT actions. GOP 2.0 has good reliability and completeness. After appropriate training, it is a useful tool to quantify PPT for children with developmental disorders.

Schedule Matters: Understanding the Relationship between Schedule Delays and Costs on Overruns

Science.gov (United States)

Majerowicz, Walt; Shinn, Stephen A.

2016-01-01

This paper examines the relationship between schedule delays and cost overruns on complex projects. It is generally accepted by many project practitioners that cost overruns are directly related to schedule delays. But what does "directly related to" actually mean? Some reasons or root causes for schedule delays and associated cost overruns are obvious, if only in hindsight. For example, unrealistic estimates, supply chain difficulties, insufficient schedule margin, technical problems, scope changes, or the occurrence of risk events can negatively impact schedule performance. Other factors driving schedule delays and cost overruns may be less obvious and more difficult to quantify. Examples of these less obvious factors include project complexity, flawed estimating assumptions, over-optimism, political factors, "black swan" events, or even poor leadership and communication. Indeed, is it even possible the schedule itself could be a source of delay and subsequent cost overrun? Through literature review, surveys of project practitioners, and the authors' own experience on NASA programs and projects, the authors will categorize and examine the various factors affecting the relationship between project schedule delays and cost growth. The authors will also propose some ideas for organizations to consider to help create an awareness of the factors which could cause or influence schedule delays and associated cost growth on complex projects.

Developmental hip dysplasia in adolescence

Directory of Open Access Journals (Sweden)

Vukašinović Zoran

2009-01-01

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

Risk Factors and Relationship Between Intestinal Parasites and the Growth Retardation and Psychomotor Development Delays of Children in Şanlıurfa, Turkey.

Science.gov (United States)

Yentur Doni, Nebiye; Yildiz Zeyrek, Fadile; Simsek, Zeynep; Gurses, Gulcan; Sahin, İbrahim

2015-12-01

The objective of this study was to determine the risk factors for and relationship among parasitic infections, growth retardation, and psychomotor developmental delays in children aged 6 years and below. This case-control study was performed in Şanlıurfa in southeastern Turkey between October and December 2007. Data were collected using a structured questionnaire, anthropometry, Ankara Development Screening Inventory, and laboratory analysis of stool specimens. The most common parasite was Giardia intestinalis (42.53%) followed by Enterobius vermicularis (27.58%), Ascaris lumbricoides (18.39%), Hymenolepis nana (5.75%), Trichuris trichiura (3.45%), Escherichia coli (1.15%), and Blastocystis spp. (1.15%). Fifty-eight percent of all children were infected with intestinal parasites; 55.2% had only one parasite, whereas 44.8% had multiple parasites. The children infected with G. intestinalis and other intestinal parasites had significantly higher levels of growth retardation and psychomotor development delay than non-infected children. Children with parasitic infections had growth delay up to 2.9 times, general development delay up to 1.9 times, language-cognitive development delay up to 2.2 times, and fine motor development delay up to 2.9 times higher than children without any parasitic infections. However, no significant relationship among intestinal parasites, gross motor development, social-self skills, and development delay was identified. The education level of parents, poor economic situation, number of households, not washing hands, playing with soil, family history of parasitic infection were the significant risk factors for intestinal parasites. Our study indicates that the presence of either malnutrition or intestinal parasites may put a child in a high-risk group for developmental delays and growth retardation. Therefore, public health interventions can embrace nationwide deworming in children.

Role of Assessment Tests in the Stability of Intelligence Scoring of Pre-School Children with Uneven/Delayed Cognitive Profile

Science.gov (United States)

Yang, P.; Jong, Y-J.; Hsu, H-Y.; Lung, F-W.

2011-01-01

Background: As part of an ongoing clinical service programme for pre-school children with developmental delay in an Asian developing country, we analysed the effect of three assessment tests, that is, Bayley Scale of Infant Development-II, Leiter International Performance Scale-Revised and Wechsler Preschool and Primary Scale of…

Strength training for a child with suspected developmental coordination disorder.

Science.gov (United States)

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.

Eco-Evo-Devo: developmental symbiosis and developmental plasticity as evolutionary agents.

Science.gov (United States)

Gilbert, Scott F; Bosch, Thomas C G; Ledón-Rettig, Cristina

2015-10-01

The integration of research from developmental biology and ecology into evolutionary theory has given rise to a relatively new field, ecological evolutionary developmental biology (Eco-Evo-Devo). This field integrates and organizes concepts such as developmental symbiosis, developmental plasticity, genetic accommodation, extragenic inheritance and niche construction. This Review highlights the roles that developmental symbiosis and developmental plasticity have in evolution. Developmental symbiosis can generate particular organs, can produce selectable genetic variation for the entire animal, can provide mechanisms for reproductive isolation, and may have facilitated evolutionary transitions. Developmental plasticity is crucial for generating novel phenotypes, facilitating evolutionary transitions and altered ecosystem dynamics, and promoting adaptive variation through genetic accommodation and niche construction. In emphasizing such non-genomic mechanisms of selectable and heritable variation, Eco-Evo-Devo presents a new layer of evolutionary synthesis.

Developmental toxicity of two common corn pesticides to the endangered southern bell frog (Litoria raniformis)

International Nuclear Information System (INIS)

Choung, Catherine B.; Hyne, Ross V.; Mann, Reinier M.; Stevens, Mark M.; Hose, Grant C.

2011-01-01

To examine the link between corn agriculture and the observed decline of the endangered southern bell frog (SBF), the effects of two corn crop pesticides on larval growth and development were investigated. Tadpoles were exposed to terbufos sulfone (10 μg/L), a major breakdown product of the insecticide terbufos, and the herbicide atrazine (25 μg/L) individually and as a mixture until the completion of metamorphosis. Atrazine did not interact synergistically with terbufos sulfone or result in significant effects on growth and development alone, although there was some indication of accelerated metamorphosis in the pilot study. Terbufos sulfone alone and as a mixture (terbufos/atrazine) significantly slowed larval development and ultimately delayed metamorphosis. The observed developmental effects from an environmentally relevant concentration of terbufos sulfone indicates a risk posed by this persistent degradation product to the endangered SBF, which breeds and develops in the rice bays adjacent to corn fields treated with pesticides. - Highlights: → The effect of terbufos sulfone and atrazine on larval growth and development was investigated. → Terbufos sulfone alone significantly slowed development and delayed metamorphosis of tadpoles. → Atrazine had no observable effects alone nor did it interact synergistically with terbufos sulfone. → The developmental effects indicates a risk to endangered southern bell frogs in the irrigation area. → The results highlight the toxicological importance of some pesticide breakdown products. - A breakdown product of the insecticide terbufos retards development and delays metamorphosis of southern bell frog tadpoles.

Developmental toxicity of two common corn pesticides to the endangered southern bell frog (Litoria raniformis)

Energy Technology Data Exchange (ETDEWEB)

Choung, Catherine B., E-mail: Catherine.Choung@mq.edu.au [Department of Biological Sciences, Macquarie University, Sydney, NSW 2109 (Australia); Hyne, Ross V. [Ecotoxicology and Environmental Contaminants Section, Office of Environment and Heritage, PO Box 29, Lidcombe, NSW 1825 (Australia); Mann, Reinier M. [Centre for Environmental Sustainability, University of Technology - Sydney, PO Box 123, Broadway, NSW 2007 (Australia); Stevens, Mark M. [EH Graham Centre for Agricultural Innovation (Industry and Investment NSW and Charles Sturt University), Yanco Agricultural Institute, Private Mail Bag, Yanco, NSW 2703 (Australia); Hose, Grant C. [Department of Biological Sciences, Macquarie University, Sydney, NSW 2109 (Australia)

2011-10-15

To examine the link between corn agriculture and the observed decline of the endangered southern bell frog (SBF), the effects of two corn crop pesticides on larval growth and development were investigated. Tadpoles were exposed to terbufos sulfone (10 {mu}g/L), a major breakdown product of the insecticide terbufos, and the herbicide atrazine (25 {mu}g/L) individually and as a mixture until the completion of metamorphosis. Atrazine did not interact synergistically with terbufos sulfone or result in significant effects on growth and development alone, although there was some indication of accelerated metamorphosis in the pilot study. Terbufos sulfone alone and as a mixture (terbufos/atrazine) significantly slowed larval development and ultimately delayed metamorphosis. The observed developmental effects from an environmentally relevant concentration of terbufos sulfone indicates a risk posed by this persistent degradation product to the endangered SBF, which breeds and develops in the rice bays adjacent to corn fields treated with pesticides. - Highlights: > The effect of terbufos sulfone and atrazine on larval growth and development was investigated. > Terbufos sulfone alone significantly slowed development and delayed metamorphosis of tadpoles. > Atrazine had no observable effects alone nor did it interact synergistically with terbufos sulfone. > The developmental effects indicates a risk to endangered southern bell frogs in the irrigation area. > The results highlight the toxicological importance of some pesticide breakdown products. - A breakdown product of the insecticide terbufos retards development and delays metamorphosis of southern bell frog tadpoles.

A Smart Toy to Enhance the Decision-Making Process at Children’s Psychomotor Delay Screenings: A Pilot Study

Science.gov (United States)

2017-01-01

Background EDUCERE (“Ubiquitous Detection Ecosystem to Care and Early Stimulation for Children with Developmental Disorders”) is an ecosystem for ubiquitous detection, care, and early stimulation of children with developmental disorders. The objectives of this Spanish government-funded research and development project are to investigate, develop, and evaluate innovative solutions to detect changes in psychomotor development through the natural interaction of children with toys and everyday objects, and perform stimulation and early attention activities in real environments such as home and school. Thirty multidisciplinary professionals and three nursery schools worked in the EDUCERE project between 2014 and 2017 and they obtained satisfactory results. Related to EDUCERE, we found studies based on providing networks of connected smart objects and the interaction between toys and social networks. Objective This research includes the design, implementation, and validation of an EDUCERE smart toy aimed to automatically detect delays in psychomotor development. The results from initial tests led to enhancing the effectiveness of the original design and deployment. The smart toy, based on stackable cubes, has a data collector module and a smart system for detection of developmental delays, called the EDUCERE developmental delay screening system (DDSS). Methods The pilot study involved 65 toddlers aged between 23 and 37 months (mean=29.02, SD 3.81) who built a tower with five stackable cubes, designed by following the EDUCERE smart toy model. As toddlers made the tower, sensors in the cubes sent data to a collector module through a wireless connection. All trials were video-recorded for further analysis by child development experts. After watching the videos, experts scored the performance of the trials to compare and fine-tune the interpretation of the data automatically gathered by the toy-embedded sensors. Results Judges were highly reliable in an interrater

Relationship Focused Intervention (RFI): Enhancing the Role of Parents in Children's Developmental Intervention

OpenAIRE

Mahoney, Gerald

2014-01-01

This article describes Relationship Focused Intervention (RFI) which attempts to promote the development of young children with developmental delays and disabilities by encouraging parents to engage in highly responsive interactions during daily routines with their children. This approach to intervention is based upon the Parenting Model of child development and was derived from research on parent-child interaction. Evidence is presented that RFI can be effective both at helping parents to le...

Relationship Focused Intervention (RFI): Enhancing the Role of Parents in Children's Developmental Intervention

OpenAIRE

Mahoney, Gerald

2009-01-01

This article describes Relationship Focused Intervention (RFI) which attempts to promote the development of young children with developmental delays and disabilities by encouraging parents to engage in highly responsive interactions during daily routines with their children. This approach to intervention is based upon the Parenting Model of child development and was derived from research on parent-child interaction. Evidence is presented that RFI can be effective both at helping parents to le...

Genetic Evaluation of Children with Global Developmental Delay—Current Status of Network Systems in Taiwan

Directory of Open Access Journals (Sweden)

Yong-Lin Foo

2015-08-01

Full Text Available 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.

Ignition Delay of Combustible Materials in Normoxic Equivalent Environments

Science.gov (United States)

McAllister, Sara; Fernandez-Pello, Carlos; Ruff, Gary; Urban, David

2009-01-01

Material flammability is an important factor in determining the pressure and composition (fraction of oxygen and nitrogen) of the atmosphere in the habitable volume of exploration vehicles and habitats. The method chosen in this work to quantify the flammability of a material is by its ease of ignition. The ignition delay time was defined as the time it takes a combustible material to ignite after it has been exposed to an external heat flux. Previous work in the Forced Ignition and Spread Test (FIST) apparatus has shown that the ignition delay in the currently proposed space exploration atmosphere (approximately 58.6 kPa and32% oxygen concentration) is reduced by 27% compared to the standard atmosphere used in the Space Shuttle and Space Station. In order to determine whether there is a safer environment in terms of material flammability, a series of piloted ignition delay tests using polymethylmethacrylate (PMMA) was conducted in the FIST apparatus to extend the work over a range of possible exploration atmospheres. The exploration atmospheres considered were the normoxic equivalents, i.e. reduced pressure conditions with a constant partial pressure of oxygen. The ignition delay time was seen to decrease as the pressure was reduced along the normoxic curve. The minimum ignition delay observed in the normoxic equivalent environments was nearly 30% lower than in standard atmospheric conditions. The ignition delay in the proposed exploration atmosphere is only slightly larger than this minimum. Interms of material flammability, normoxic environments with a higher pressure relative to the proposed pressure would be desired.

Developmental and behavioural problems in children with severe acute malnutrition in Malawi: A cross–sectional study

Science.gov (United States)

van den Heuvel, Meta; Voskuijl, Wieger; Chidzalo, Kate; Kerac, Marko; Reijneveld, Sijmen A; Bandsma, Robert; Gladstone, Melissa

2017-01-01

Background Early childhood development provides an important foundation for the development of human capital. Although there is a clear relation between stunting and child development outcomes, less information is available about the developmental and behavioural outcomes of children with severe acute malnutrition (SAM). Particularly an important research gap exists in Sub–Saharan Africa where there is a high prevalence of SAM and a high rate of co–occurring HIV (human immune deficiency virus) infection. Our first objective was to assess the prevalence and severity of developmental and behavioural disorders on a cohort of children admitted to an inpatient nutritional rehabilitation centre in Malawi. Our second objective was to compare the developmental and behavioural profiles of children with the two main phenotypes of SAM: kwashiorkor and marasmus. Methods This was a cross–sectional observational study including all children hospitalized with complicated SAM in Blantyre, Malawi over an 8–month period from February to October 2015. At discharge, children were assessed with the well-validated Malawi Developmental Assessment Tool (MDAT) for gross motor, fine motor, language and social development. In children ≥24 months, emotional and behavioural problems were measured using the Strengths and Difficulties Questionnaire (SDQ). Results 150 children (55% boys) with SAM were recruited; mean age of 27.2 months (standard deviation 17.9), 27 children (18%) had pre–existing neurodisabilities (ND) and 34 (23%) had a co–occurring human immune deficiency virus (HIV) infection. All children with SAM experienced profound delays in the gross and fine motor, language and social domains. Linear regression analysis demonstrated that children with kwashiorkor scored 0.75 standard deviations lower (95% confidence interval –1.43 to –0.07) on language MDAT domain than children with marasmus when adjusted for covariates. The prosocial behaviour score of the SDQ was low

Reading in developmental prosopagnosia: Evidence for a dissociation between word and face recognition.

Science.gov (United States)

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

2018-02-01

Recent models suggest that face and word recognition may rely on overlapping cognitive processes and neural regions. In support of this notion, face recognition deficits have been demonstrated in developmental dyslexia. Here we test whether the opposite association can also be found, that is, impaired reading in developmental prosopagnosia. 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 exposure durations (targeting the word superiority effect), and d) text reading. 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, as the difference in performance with faces and words was significantly greater for participants with developmental prosopagnosia than for controls. Adult developmental prosopagnosics read as quickly and fluently as controls, while they are seemingly unable to learn efficient strategies for recognizing faces. We suggest that this is due to the differing demands that face and word recognition put on the perceptual system. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

Delay-Limited Capacity in the Low Power Regime

KAUST Repository

Rezki, Zouheir

2016-02-11

Outage performance of the M-block fading with additive white Gaussian noise (BF-AWGN) is investigated in the low-power regime. We consider delay-constrained constant-rate communications with perfect channel state information (CSI) at both the transmitter and the receiver (CSI-TR), under a shortterm power constraint (STPC) and a long-term power constraint (LTPC). Subject to STPC, we show that selection diversity that allocates all the power to the strongest block is asymptotically optimal. Then, we provide a simple characterization of the outage probability in the regime of interest. We quantify the reward due to CSI-TR over the constant-rate constant-power scheme and show that this reward increases with the delay constraint. For instance, for Rayleigh fading, we find that a power gain up to 4.3 dB is achievable. Subject to LTPC, we show that the above guidelines still holds and that the outage performance improves due to the flexibility of the LTPC over the STPC. More interestingly, we prove that LTPC allows zero-outage communication even at low SNR and characterize the delaylimited capacity at low SNR in a simple form. More precisely, we establish that the delay-limited capacity scales linearly with the power constraint, for a given M < 1. Our framework highlights the benefit of fading at low SNR as the delay-limited capacity may outperform the AWGN capacity. For instance, for Rayleigh fading and with M = 3, the delay-limited capacity is 16% higher than the capacity of an AWGN channel.

Quantifying Neonatal Sucking Performance: Promise of New Methods.

Science.gov (United States)

Capilouto, Gilson J; Cunningham, Tommy J; Mullineaux, David R; Tamilia, Eleonora; Papadelis, Christos; Giannone, Peter J

2017-04-01

Neonatal feeding has been traditionally understudied so guidelines and evidence-based support for common feeding practices are limited. A major contributing factor to the paucity of evidence-based practice in this area has been the lack of simple-to-use, low-cost tools for monitoring sucking performance. We describe new methods for quantifying neonatal sucking performance that hold significant clinical and research promise. We present early results from an ongoing study investigating neonatal sucking as a marker of risk for adverse neurodevelopmental outcomes. We include quantitative measures of sucking performance to better understand how movement variability evolves during skill acquisition. Results showed the coefficient of variation of suck duration was significantly different between preterm neonates at high risk for developmental concerns (HRPT) and preterm neonates at low risk for developmental concerns (LRPT). For HRPT, results indicated the coefficient of variation of suck smoothness increased from initial feeding to discharge and remained significantly greater than healthy full-term newborns (FT) at discharge. There was no significant difference in our measures between FT and LRPT at discharge. Our findings highlight the need to include neonatal sucking assessment as part of routine clinical care in order to capture the relative risk of adverse neurodevelopmental outcomes at discharge. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Psychomotor delay, a possible rare presentation of moyamoya disease

International Nuclear Information System (INIS)

Ashrafi, M. R.; Alizadeh, H.; Yazdani, Sh.; Mohseni, M.; Mohamadi, M.

2011-01-01

Moyamoya disease is a rare, chronic cerebrovascular occlusive disease of unknown etiology. It is characterized by progressive stenosis of the arteries of the circle of Willis leading to ischemic strokes in young people and cerebral hemorrhage, which is more frequent in adults. Secondarily, an abnormal network of fine collateral vessels arises at the base of the brain. The term moyamoya refers to the angiographic appearance of the cerebral vasculature. We present such a disease in an 18-month-old Iranian girl with global developmental delay, which is a very rare presentation of moyamoya disease. She was diagnosed by magnetic resonance imaging and magnetic resonance angiography.

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

Science.gov (United States)

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

2015-01-01

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

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

Science.gov (United States)

Gupta, Chinmaya; López, José Manuel; Azencott, Robert; Bennett, Matthew R; Josić, Krešimir; Ott, William

2014-05-28

Delay is an important and ubiquitous aspect of many biochemical processes. For example, delay plays a central role in the dynamics of genetic regulatory networks as it stems from the sequential assembly of first mRNA and then protein. Genetic regulatory networks are therefore frequently modeled as stochastic birth-death processes with delay. Here, we examine the relationship between delay birth-death processes and their appropriate approximating delay chemical Langevin equations. We prove a quantitative bound on the error between the pathwise realizations of these two processes. Our results hold for both fixed delay and distributed delay. Simulations demonstrate that the delay chemical Langevin approximation is accurate even at moderate system sizes. It captures dynamical features such as the oscillatory behavior in negative feedback circuits, cross-correlations between nodes in a network, and spatial and temporal information in two commonly studied motifs of metastability in biochemical systems. Overall, these results provide a foundation for using delay stochastic differential equations to approximate the dynamics of birth-death processes with delay.

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

Energy Technology Data Exchange (ETDEWEB)

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.

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

International Nuclear Information System (INIS)

Gupta, Chinmaya; López, José Manuel; Azencott, Robert; Ott, William; Bennett, Matthew R.; Josić, Krešimir

2014-01-01

Delay is an important and ubiquitous aspect of many biochemical processes. For example, delay plays a central role in the dynamics of genetic regulatory networks as it stems from the sequential assembly of first mRNA and then protein. Genetic regulatory networks are therefore frequently modeled as stochastic birth-death processes with delay. Here, we examine the relationship between delay birth-death processes and their appropriate approximating delay chemical Langevin equations. We prove a quantitative bound on the error between the pathwise realizations of these two processes. Our results hold for both fixed delay and distributed delay. Simulations demonstrate that the delay chemical Langevin approximation is accurate even at moderate system sizes. It captures dynamical features such as the oscillatory behavior in negative feedback circuits, cross-correlations between nodes in a network, and spatial and temporal information in two commonly studied motifs of metastability in biochemical systems. Overall, these results provide a foundation for using delay stochastic differential equations to approximate the dynamics of birth-death processes with delay

A Smart Toy to Enhance the Decision-Making Process at Children's Psychomotor Delay Screenings: A Pilot Study.

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Gutiérrez García, María Angeles; Martín Ruiz, María Luisa; Rivera, Diego; Vadillo, Laura; Valero Duboy, Miguel Angel

2017-05-19

EDUCERE ("Ubiquitous Detection Ecosystem to Care and Early Stimulation for Children with Developmental Disorders") is an ecosystem for ubiquitous detection, care, and early stimulation of children with developmental disorders. The objectives of this Spanish government-funded research and development project are to investigate, develop, and evaluate innovative solutions to detect changes in psychomotor development through the natural interaction of children with toys and everyday objects, and perform stimulation and early attention activities in real environments such as home and school. Thirty multidisciplinary professionals and three nursery schools worked in the EDUCERE project between 2014 and 2017 and they obtained satisfactory results. Related to EDUCERE, we found studies based on providing networks of connected smart objects and the interaction between toys and social networks. This research includes the design, implementation, and validation of an EDUCERE smart toy aimed to automatically detect delays in psychomotor development. The results from initial tests led to enhancing the effectiveness of the original design and deployment. The smart toy, based on stackable cubes, has a data collector module and a smart system for detection of developmental delays, called the EDUCERE developmental delay screening system (DDSS). The pilot study involved 65 toddlers aged between 23 and 37 months (mean=29.02, SD 3.81) who built a tower with five stackable cubes, designed by following the EDUCERE smart toy model. As toddlers made the tower, sensors in the cubes sent data to a collector module through a wireless connection. All trials were video-recorded for further analysis by child development experts. After watching the videos, experts scored the performance of the trials to compare and fine-tune the interpretation of the data automatically gathered by the toy-embedded sensors. Judges were highly reliable in an interrater agreement analysis (intraclass correlation 0

Developmental plasticity in vision and behavior may help guppies overcome increased turbidity.

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Ehlman, Sean M; Sandkam, Benjamin A; Breden, Felix; Sih, Andrew

2015-12-01

Increasing turbidity in streams and rivers near human activity is cause for environmental concern, as the ability of aquatic organisms to use visual information declines. To investigate how some organisms might be able to developmentally compensate for increasing turbidity, we reared guppies (Poecilia reticulata) in either clear or turbid water. We assessed the effects of developmental treatments on adult behavior and aspects of the visual system by testing fish from both developmental treatments in turbid and clear water. We found a strong interactive effect of rearing and assay conditions: fish reared in clear water tended to decrease activity in turbid water, whereas fish reared in turbid water tended to increase activity in turbid water. Guppies from all treatments decreased activity when exposed to a predator. To measure plasticity in the visual system, we quantified treatment differences in opsin gene expression of individuals. We detected a shift from mid-wave-sensitive opsins to long wave-sensitive opsins for guppies reared in turbid water. Since long-wavelength sensitivity is important in motion detection, this shift likely allows guppies to salvage motion-detecting abilities when visual information is obscured in turbid water. Our results demonstrate the importance of developmental plasticity in responses of organisms to rapidly changing environments.

Developmental trajectories of attention and executive functioning in infants born preterm: The influence of perinatal risk factors and maternal interactive styles

NARCIS (Netherlands)

van de Weijer-Bergsma, E.

2009-01-01

Infants born preterm (born before 37 weeks of gestation) are at a heightened risk for developmental delay and learning disabilities. Even children born preterm who have intellectual abilities within the normal range at school age often require special educational services. The preterm population is

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

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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.

Delayed Development of Brain Connectivity in Adolescents With Schizophrenia and Their Unaffected Siblings.

Science.gov (United States)

Zalesky, Andrew; Pantelis, Christos; Cropley, Vanessa; Fornito, Alex; Cocchi, Luca; McAdams, Harrison; Clasen, Liv; Greenstein, Deanna; Rapoport, Judith L; Gogtay, Nitin

2015-09-01

Abnormalities in structural brain connectivity have been observed in patients with schizophrenia. Mapping these abnormalities longitudinally and understanding their genetic risk via sibship studies will provide crucial insight into progressive developmental changes associated with schizophrenia. To identify corticocortical connections exhibiting an altered developmental trajectory in adolescents with childhood-onset schizophrenia (COS) and to determine whether similar alterations are found in patients' unaffected siblings. Using prospective structural brain magnetic resonance imaging, large-scale corticocortical connectivity was mapped from ages 12 to 24 years in 109 patients with COS (272 images), 86 of their unaffected siblings (184 images), and 102 healthy controls (262 images) over a 20-year period beginning January 1, 1991, through April 30, 2011, as part of the ongoing COS study at the National Institute of Mental Health. Structural connectivity between pairs of cortical regions was estimated using a validated technique based on across-subject covariation in magnetic resonance imaging-derived cortical thickness measurements. Compared with normally developing controls, significant left-hemisphere occipitotemporal deficits in cortical thickness correlations were found in patients with COS as well as their healthy siblings (P siblings normalized by mid-adolescence, whereas patients with COS showed significantly longer maturational delays, with cortical thickness correlations between the left temporal lobe and left occipital cortex not showing evidence of development until early adulthood. The normalization of deficits with age in patients with COS correlated with improvement in symptoms. Compared with controls, left-hemisphere occipitotemporal thickness correlations in a subgroup of patients with high positive symptoms were significantly reduced from age 14 to 18 years (P siblings associated with resilience to developing schizophrenia. These findings indicate

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.

Science.gov (United States)

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.

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

Science.gov (United States)

Neece, Cameron L

2014-03-01

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

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

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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.

Low Emissions and Delay Optimization for an Isolated Signalized Intersection Based on Vehicular Trajectories.

Science.gov (United States)

Lin, Ciyun; Gong, Bowen; Qu, Xin

2015-01-01

A traditional traffic signal control system is established based on vehicular delay, queue length, saturation and other indicators. However, due to the increasing severity of urban environmental pollution issues and the development of a resource-saving and environmentally friendly social philosophy, the development of low-carbon and energy-efficient urban transport is required. This paper first defines vehicular trajectories and the calculation of vehicular emissions based on VSP. Next, a regression analysis method is used to quantify the relationship between vehicular emissions and delay, and a traffic signal control model is established to reduce emissions and delay using the enumeration method combined with saturation constraints. Finally, one typical intersection of Changchun is selected to verify the model proposed in this paper; its performance efficiency is also compared using simulations in VISSIM. The results of this study show that the proposed model can significantly reduce vehicle delay and traffic emissions simultaneously.

Improving health and education outcomes for children in remote communities: A cross-sector and developmental evaluation approach

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Debra Maria Jones

2015-09-01

Full Text Available Early childhood is one of the most influential developmental life stages. Attainments at this stage will have implications for the quality of life children experience as they transition to adulthood. Children residing in remote Australia are exposed to socioeconomic disadvantage that can contribute to developmental delays and resultant poorer education and health outcomes. Complex contributing factors in far west New South Wales have resulted in children with speech and fine motor skill delays experiencing no to limited access to allied health services for a number of decades. More recently, growing awareness that no single policy, government agency, or program could effectively respond to these complexities or ensure appropriate allied health service access for children in these communities has led to the development of the Allied Health in Outback Schools Program, which has been operational since 2009. The program is underpinned by cross-sector partnerships and a shared aspirational aim to improve the developmental outcomes of children to enhance their later life opportunities. It was identified early that the initiative had the potential to deliver mutually beneficial outcomes for communities and participating partner organisations. Over the last five years the program has been the catalyst for partnership consolidation, expansion and diversification. The developmental evaluation approach to continuous program adaptation and refinement has provided valuable insights that have informed health and education policy and enabled the program to be responsive to changing community needs, emerging policy and funding reforms. This article explores the evolution of the program partnerships, their contribution to program success and longevity, and their capacity to respond to an emergent and dynamic environment. The authors propose that a community-centred and developmental approach to program innovation and implementation in remote locations is

The sensitivity of Turing self-organization to biological feedback delays: 2D models of fish pigmentation

KAUST Repository

Gaffney, E. A.

2013-10-01

© The authors 2013. Turing morphogen models have been extensively explored in the context of large-scale self-organization in multicellular biological systems. However, reconciling the detailed biology of morphogen dynamics, while accounting for time delays associated with gene expression, reveals aberrant behaviours that are not consistent with early developmental self-organization, especially the requirement for exquisite temporal control. Attempts to reconcile the interpretation of Turing\\'s ideas with an increasing understanding of the mechanisms driving zebrafish pigmentation suggests that one should reconsider Turing\\'s model in terms of pigment cells rather than morphogens (Nakamasu et al., 2009, PNAS, 106, 8429-8434; Yamaguchi et al., 2007, PNAS, 104, 4790-4793). Here the dynamics of pigment cells is subject to response delays implicit in the cell cycle and apoptosis. Hence we explore simulations of fish skin patterning, focussing on the dynamical influence of gene expression delays in morphogen-based Turing models and response delays for cell-based Turing models. We find that reconciling the mechanisms driving the behaviour of Turing systems with observations of fish skin patterning remains a fundamental challenge.

Facial emotion recognition in Williams syndrome and Down syndrome: A matching and developmental study.

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Martínez-Castilla, Pastora; Burt, Michael; Borgatti, Renato; Gagliardi, Chiara

2015-01-01

In this study both the matching and developmental trajectories approaches were used to clarify questions that remain open in the literature on facial emotion recognition in Williams syndrome (WS) and Down syndrome (DS). The matching approach showed that individuals with WS or DS exhibit neither proficiency for the expression of happiness nor specific impairments for negative emotions. Instead, they present the same pattern of emotion recognition as typically developing (TD) individuals. Thus, the better performance on the recognition of positive compared to negative emotions usually reported in WS and DS is not specific of these populations but seems to represent a typical pattern. Prior studies based on the matching approach suggested that the development of facial emotion recognition is delayed in WS and atypical in DS. Nevertheless, and even though performance levels were lower in DS than in WS, the developmental trajectories approach used in this study evidenced that not only individuals with DS but also those with WS present atypical development in facial emotion recognition. Unlike in the TD participants, where developmental changes were observed along with age, in the WS and DS groups, the development of facial emotion recognition was static. Both individuals with WS and those with DS reached an early maximum developmental level due to cognitive constraints.

Increased deficit of visual attention span with development in Chinese children with developmental dyslexia.

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Zhao, Jing; Liu, Menglian; Liu, Hanlong; Huang, Chen

2018-02-16

It has been suggested that orthographic transparency and age changes may affect the relationship between visual attention span (VAS) deficit and reading difficulty. The present study explored the developmental trend of VAS in children with developmental dyslexia (DD) in Chinese, a logographic language with a deep orthography. Fifty-seven Chinese children with DD and fifty-four age-matched normal readers participated. The visual 1-back task was adopted to examine VAS. Phonological and morphological awareness tests, and reading tests in single-character and sentence levels were used for reading skill measurements. Results showed that only high graders with dyslexia exhibited lower accuracy than the controls in the VAS task, revealing an increased VAS deficit with development in the dyslexics. Moreover, the developmental trajectory analyses demonstrated that the dyslexics seemed to exhibit an atypical but not delayed pattern in their VAS development as compared to the controls. A correlation analysis indicated that VAS was only associated with morphological awareness for dyslexic readers in high grades. Further regression analysis showed that VAS skills and morphological awareness made separate and significant contributions to single-character reading for high grader with dyslexia. These findings suggested a developmental increasing trend in the relationship between VAS skills and reading (dis)ability in Chinese.

The association of childhood asthma with mental health and developmental comorbidities in low-income families.

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Arif, Ahmed A; Korgaonkar, Purva

2016-01-01

The objective of the study was to determine the relationship of childhood asthma with mental health and developmental indicators in low-income families. Parents/guardians of approximately 400 children, aged 2-14 years, were recruited from a charity hospital serving low income neighborhoods in the outskirts of Karachi, Pakistan. Mothers of children were interviewed in their local language by a trained nurse. Eight self-reported comorbidities were grouped into two constructs based on factor analysis and conveniently labeled as mental health (anxiety, attention and behavioral problems) and developmental problems (learning, developmental delay, hearing impairment, sleep and speech problems). Data were analyzed using multiple logistic regression, adjusted for age, sex, presence of older siblings, number of people in the household, child birth weight, presence of mold, and family history of asthma or hay fever. Children with asthma had 18 times greater odds of mental health problems (adjusted OR = 18.0, 95% CI: 9.2, 35.1) as compared to children without asthma. The odds of developmental problems were more than 14 times greater for children with asthma (adjusted OR = 14.3, 95% CI: 7.8, 26.1) as compared to children without asthma. This study found mental and developmental adverse consequences of childhood asthma in low-income families. Identifying and treating asthma at an early age could reduce the burden of comorbidities in this population.

Delayed coking studies on Athabasca bitumen and Cold Lake heavy oil

Energy Technology Data Exchange (ETDEWEB)

Govindhakannan, J.; Khulbe, C. [National Centre for Upgrading Technology, Devon, AB (Canada); Natural Resources Canada, Devon, AB (Canada). CanmetENERGY

2009-07-01

This poster highlighted the results of a study that quantified the delayed coking product yields of Athabasca bitumen and Cold Lake heavy oil. It also investigated the effect of operating pressure and feed rates on product yield and quality. The effect of pressure on conversion of sulphur and nitrogen was also examined. Experimental results revealed that the yield of liquid products decreases and the yields of coke and gases increase as the operating pressure increases. Sulphur and nitrogen conversions increase with increasing pressure. In this study, the yield and quality of delayed coking products were not influenced by the variation in feed rates. It was concluded that feed rate changes do not significantly affect the yield and quality of delayed coking products because the residual liquid and coke trapped in the coker drum reside there for a duration that approaches infinity, compared to much smaller average residence time for vapor-phase compounds. tabs., figs.

Recreating the scene: an effective way to provide delayed punishment for inappropriate motor behavior.

OpenAIRE

Van Houten, R; Rolider, A

1988-01-01

A mediated punishment procedure that involved recreating a behavioral sequence by guiding the subject through the behavior in the situation in which it occurred was used to suppress several severe problem behaviors in two developmentally delayed children. The mediational procedure was first used with a 4-year-old autistic boy for biting and then for foot stomping. Next the procedure was used for stealing and hoarding behavior with a multiply handicapped 17-year-old girl. Results indicated tha...

Delayed bet-hedging resilience strategies under environmental fluctuations

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Ogura, Masaki; Wakaiki, Masashi; Rubin, Harvey; Preciado, Victor M.

2017-05-01

Many biological populations, such as bacterial colonies, have developed through evolution a protection mechanism, called bet hedging, to increase their probability of survival under stressful environmental fluctuation. In this context, the concept of preadaptation refers to a common type of bet-hedging protection strategy in which a relatively small number of individuals in a population stochastically switch their phenotypes to a dormant metabolic state in which they increase their probability of survival against potential environmental shocks. Hence, if an environmental shock took place at some point in time, preadapted organisms would be better adapted to survive and proliferate once the shock is over. In many biological populations, the mechanisms of preadaptation and proliferation present delays whose influence in the fitness of the population are not well understood. In this paper, we propose a rigorous mathematical framework to analyze the role of delays in both preadaptation and proliferation mechanisms in the survival of biological populations, with an emphasis on bacterial colonies. Our theoretical framework allows us to analytically quantify the average growth rate of a bet-hedging bacterial colony with stochastically delayed reactions with arbitrary precision. We verify the accuracy of the proposed method by numerical simulations and conclude that the growth rate of a bet-hedging population shows a nontrivial dependency on their preadaptation and proliferation delays. Contrary to the current belief, our results show that faster reactions do not, in general, increase the overall fitness of a biological population.

A longitudinal study of maternal attachment and infant developmental outcomes.

Science.gov (United States)

Alhusen, Jeanne L; Hayat, Matthew J; Gross, Deborah

2013-12-01

Extant research has demonstrated that compared to adults with insecure attachment styles, more securely attached parents tend to be more responsive, sensitive, and involved parents, resulting in improved outcomes for their children. Less studied is the influence of a mother's attachment style on her attachment to her unborn child during pregnancy and the consequent developmental outcomes of the child during early childhood. Thus, the aim of this prospective longitudinal study was to examine the relationship between maternal-fetal attachment (MFA) during pregnancy and infant and toddler outcomes and the role of mothers' attachment style on early childhood developmental outcomes in an economically disadvantaged sample of women and their children. Gamma regression modeling demonstrated that an avoidant maternal attachment style (b = .98, 95 % CI [.97, .98], p attachment styles and greater depressive symptomatology were more likely to have children demonstrating early childhood developmental delays than those women with less avoidant attachment styles and less depressive symptomatology. Furthermore, women reporting higher MFA during pregnancy had more secure attachment styles, and their children had more optimal early childhood development than those women reporting lower MFA and less secure attachment styles. Findings have implications for enhancing early intervention programs aimed at improving maternal and childhood outcomes. An earlier identification of disruptions in attachment may be beneficial in tailoring interventions focused on the mother-child dyad.

Developmental Profiles of Preschool Children With Spastic Diplegic and Quadriplegic Cerebral Palsy

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Ya-Chen Lee

2010-07-01

Full Text Available Cerebral palsy (CP is a disorder of movement and posture control with multiple impairments. The clinical manifestations of CP vary among children. The aim of this study was to compare the developmental profiles of preschool children with either of two types of CP: spastic diplegic (SD CP and spastic quadriplegic (SQ CP. Relationships between the children's various developmental functions were also investigated. We recruited 137 children with spastic CP, aged 1-5 years (mean age = 3.7 ± 2.1 years, and we classified them into two groups: SD (n = 59 and SQ (n = 78. The comparison group comprised 18 children with typical development. Developmental functions were assessed in all the children, using the Chinese Child Development Inventory with the updated norms. This scale addressed eight functional domains: gross motor ability, fine motor ability, expressive language ability, concept comprehension ability, situation comprehension ability, self-help ability, personal-social skills, and general development. A development quotient (DQ was determined for each domain as a percentage of the developmental age divided by the chronological age. The developmental profiles of the CP subtypes were found to differ. Children with SQ were found to have lower DQs than those with SD (p < 0.01. There was also a difference in the distribution of DQs between the SD and SQ groups, although the lowest DQ in both groups was for the gross motor domain. An uneven delay in the development of gross motor function was found in both groups of children with CP. Motor functions, including gross motor and fine motor functions, were significantly related to self-help ability. Complex and significant correlations among developmental functions were also identified in children with CP. The findings in the present study may allow clinicians to anticipate the developmental profile of children with CP on the basis of whether they have the SD or SQ subtype. This, in turn, is likely to

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

Science.gov (United States)

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

2017-05-30

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

Evolutionary and developmental implications of asymmetric brain folding in a large primate pedigree

OpenAIRE

Atkinson, Elizabeth G.; Rogers, Jeffrey; Cheverud, James M.

2016-01-01

Bilateral symmetry is a fundamental property of the vertebrate central nervous system. Local deviations from symmetry provide various types of information about the development, evolution and function of elements within the CNS, especially the cerebral hemispheres. Here, we quantify the pattern and extent of asymmetry in cortical folding within the cerebrum of Papio baboons and assess the evolutionary and developmental implications of the findings. Analyses of directional asymmetry show a pop...

[Modeling developmental aspects of sensorimotor control of speech production].

Science.gov (United States)

Kröger, B J; Birkholz, P; Neuschaefer-Rube, C

2007-05-01

Detailed knowledge of the neurophysiology of speech acquisition is important for understanding the developmental aspects of speech perception and production and for understanding developmental disorders of speech perception and production. A computer implemented neural model of sensorimotor control of speech production was developed. The model is capable of demonstrating the neural functions of different cortical areas during speech production in detail. (i) Two sensory and two motor maps or neural representations and the appertaining neural mappings or projections establish the sensorimotor feedback control system. These maps and mappings are already formed and trained during the prelinguistic phase of speech acquisition. (ii) The feedforward sensorimotor control system comprises the lexical map (representations of sounds, syllables, and words of the first language) and the mappings from lexical to sensory and to motor maps. The training of the appertaining mappings form the linguistic phase of speech acquisition. (iii) Three prelinguistic learning phases--i. e. silent mouthing, quasi stationary vocalic articulation, and realisation of articulatory protogestures--can be defined on the basis of our simulation studies using the computational neural model. These learning phases can be associated with temporal phases of prelinguistic speech acquisition obtained from natural data. The neural model illuminates the detailed function of specific cortical areas during speech production. In particular it can be shown that developmental disorders of speech production may result from a delayed or incorrect process within one of the prelinguistic learning phases defined by the neural model.

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

Science.gov (United States)

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

2010-07-01

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

An overview of the recent advances in delay-time-based maintenance modelling

International Nuclear Information System (INIS)

Wang, Wenbin

2012-01-01

Industrial plant maintenance is an area which has enormous potential to be improved. It is also an area attracted significant attention from mathematical modellers because of the random phenomenon of plant failures. This paper reviews the recent advances in delay-time-based maintenance modelling, which is one of the mathematical techniques for optimising inspection planning and related problems. The delay-time is a concept that divides a plant failure process into two stages: from new until the point of an identifiable defect, and then from this point to failure. The first stage is called the normal working stage and the second stage is called the failure delay-time stage. If the distributions of the two stages can be quantified, the relationship between the number of failures and the inspection interval can be readily established. This can then be used for optimizing the inspection interval and other related decision variables. In this review, we pay particular attention to new methodological developments and industrial applications of the delay-time-based models over the last few decades. The use of the delay-time concept and modeling techniques in other areas rather than in maintenance is also reviewed. Future research directions are also highlighted. - Highlights: ► Reviewed the recent advances in delay-time-based maintenance models and applications. ► Compared the delay-time-based models with other models. ► Focused on methodologies and applications. ► Pointed out future research directions.

Phase delaying the human circadian clock with a single light pulse and moderate delay of the sleep/dark episode: no influence of iris color.

Science.gov (United States)

Canton, Jillian L; Smith, Mark R; Choi, Ho-Sun; Eastman, Charmane I

2009-07-17

Light exposure in the late evening and nighttime and a delay of the sleep/dark episode can phase delay the circadian clock. This study assessed the size of the phase delay produced by a single light pulse combined with a moderate delay of the sleep/dark episode for one day. Because iris color or race has been reported to influence light-induced melatonin suppression, and we have recently reported racial differences in free-running circadian period and circadian phase shifting in response to light pulses, we also tested for differences in the magnitude of the phase delay in subjects with blue and brown irises. Subjects (blue-eyed n = 7; brown eyed n = 6) maintained a regular sleep schedule for 1 week before coming to the laboratory for a baseline phase assessment, during which saliva was collected every 30 minutes to determine the time of the dim light melatonin onset (DLMO). Immediately following the baseline phase assessment, which ended 2 hours after baseline bedtime, subjects received a 2-hour bright light pulse (~4,000 lux). An 8-hour sleep episode followed the light pulse (i.e. was delayed 4 hours from baseline). A final phase assessment was conducted the subsequent night to determine the phase shift of the DLMO from the baseline to final phase assessment.Phase delays of the DLMO were compared in subjects with blue and brown irises. Iris color was also quantified from photographs using the three dimensions of red-green-blue color axes, as well as a lightness scale. These variables were correlated with phase shift of the DLMO, with the hypothesis that subjects with lighter irises would have larger phase delays. The average phase delay of the DLMO was -1.3 +/- 0.6 h, with a maximum delay of ~2 hours, and was similar for subjects with blue and brown irises. There were no significant correlations between any of the iris color variables and the magnitude of the phase delay. A single 2-hour bright light pulse combined with a moderate delay of the sleep/dark episode

Phase delaying the human circadian clock with a single light pulse and moderate delay of the sleep/dark episode: no influence of iris color

Directory of Open Access Journals (Sweden)

Choi Ho-Sun

2009-07-01

Full Text Available Abstract Background Light exposure in the late evening and nighttime and a delay of the sleep/dark episode can phase delay the circadian clock. This study assessed the size of the phase delay produced by a single light pulse combined with a moderate delay of the sleep/dark episode for one day. Because iris color or race has been reported to influence light-induced melatonin suppression, and we have recently reported racial differences in free-running circadian period and circadian phase shifting in response to light pulses, we also tested for differences in the magnitude of the phase delay in subjects with blue and brown irises. Methods Subjects (blue-eyed n = 7; brown eyed n = 6 maintained a regular sleep schedule for 1 week before coming to the laboratory for a baseline phase assessment, during which saliva was collected every 30 minutes to determine the time of the dim light melatonin onset (DLMO. Immediately following the baseline phase assessment, which ended 2 hours after baseline bedtime, subjects received a 2-hour bright light pulse (~4,000 lux. An 8-hour sleep episode followed the light pulse (i.e. was delayed 4 hours from baseline. A final phase assessment was conducted the subsequent night to determine the phase shift of the DLMO from the baseline to final phase assessment. Phase delays of the DLMO were compared in subjects with blue and brown irises. Iris color was also quantified from photographs using the three dimensions of red-green-blue color axes, as well as a lightness scale. These variables were correlated with phase shift of the DLMO, with the hypothesis that subjects with lighter irises would have larger phase delays. Results The average phase delay of the DLMO was -1.3 ± 0.6 h, with a maximum delay of ~2 hours, and was similar for subjects with blue and brown irises. There were no significant correlations between any of the iris color variables and the magnitude of the phase delay. Conclusion A single 2-hour bright light

A study looking at the effectiveness of developmental screening in identifying learning disabilities in early childhood.

Science.gov (United States)

Flanagan, O; Nualláin, S O

2001-05-01

This is a retrospective study of children under six years of age referred to the Brothers of Charity Early Intervention Services in County Galway, a service that caters for children under 6 years with learning disabilities. The aim in doing this study was to assess the value of routine developmental screening in identifying children with learning difficulties. This study also investigates the patterns and sources of referral to the remedial services provided by the Brothers of Charity and highlights possible avoidable delays in referral. The results showed that many children were referred for remedial services late. The reasons for late referral included late identification of some children with problems, insufficient co-ordination of community-based services and a lack of awareness of the importance of early intervention in some cases. As some communication disorders such as autism, autistic spectrum disorders and specific language delay may not express themselves until the later part of the second year of life, the 18-24 month developmental assessment is of vital importance. However identification of these disorders can present difficulties and may call for additional training for professionals involved in the developmental screening of children in that age group. The interval between initial identification and referral for remedial care in many cases was more than twelve months. We propose that, in order to minimize this time, children requiring a more in-depth assessment should be assessed by a community-based multidisciplinary team, enabling integrated assessment by the different disciplines and thus speedier referral to remedial services.

Translations of Developmental Screening Instruments: An Evidence Map of Available Research.

Science.gov (United States)

El-Behadli, Ana F; Neger, Emily N; Perrin, Ellen C; Sheldrick, R Christopher

2015-01-01

Children whose parents do not speak English experience significant disparities in the identification of developmental delays and disorders; however, little is known about the availability and validity of translations of developmental screeners. The goal was to create a map of the scientific evidence regarding translations of the 9 Academy of Pediatrics-recommended screening instruments into languages other than English. The authors conducted a systematic search of Medline and PsycINFO, references of identified articles, publishers' Web sites, and official manuals. Through evidence mapping, a new methodology supported by AHRQ and the Cochrane Collaboration, the authors documented the extent and distribution of published evidence supporting translations of developmental screeners. Data extraction focused on 3 steps of the translation and validation process: (1) translation methods used, (2) collection of normative data in the target language, and (3) evidence for reliability and validity. The authors identified 63 distinct translations among the 9 screeners, of which 44 had supporting evidence published in peer-reviewed sources. Of the 63 translations, 35 had at least some published evidence regarding translation methods used, 28 involving normative data, and 32 regarding reliability and/or construct validity. One-third of the translations found were of the Denver Developmental Screening Test. Specific methods used varied greatly across screeners, as did the level of detail with which results were reported. Few developmental screeners have been translated into many languages. Evidence map of the authors demonstrates considerable variation in both the amount and the comprehensiveness of information available about translated instruments. Informal guidelines exist for conducting translation of psychometric instruments but not for documentation of this process. The authors propose that uniform guidelines be established for reporting translation research in peer

Separate valuation subsystems for delay and effort decision costs.

Science.gov (United States)

Prévost, Charlotte; Pessiglione, Mathias; Météreau, Elise; Cléry-Melin, Marie-Laure; Dreher, Jean-Claude

2010-10-20

Decision making consists of choosing among available options on the basis of a valuation of their potential costs and benefits. Most theoretical models of decision making in behavioral economics, psychology, and computer science propose that the desirability of outcomes expected from alternative options can be quantified by utility functions. These utility functions allow a decision maker to assign subjective values to each option under consideration by weighting the likely benefits and costs resulting from an action and to select the one with the highest subjective value. Here, we used model-based neuroimaging to test whether the human brain uses separate valuation systems for rewards (erotic stimuli) associated with different types of costs, namely, delay and effort. We show that humans devalue rewards associated with physical effort in a strikingly similar fashion to those they devalue that are associated with delays, and that a single computational model derived from economics theory can account for the behavior observed in both delay discounting and effort discounting. However, our neuroimaging data reveal that the human brain uses distinct valuation subsystems for different types of costs, reflecting in opposite fashion delayed reward and future energetic expenses. The ventral striatum and the ventromedial prefrontal cortex represent the increasing subjective value of delayed rewards, whereas a distinct network, composed of the anterior cingulate cortex and the anterior insula, represent the decreasing value of the effortful option, coding the expected expense of energy. Together, these data demonstrate that the valuation processes underlying different types of costs can be fractionated at the cerebral level.

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

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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.

Low Emissions and Delay Optimization for an Isolated Signalized Intersection Based on Vehicular Trajectories.

Directory of Open Access Journals (Sweden)

Ciyun Lin

Full Text Available A traditional traffic signal control system is established based on vehicular delay, queue length, saturation and other indicators. However, due to the increasing severity of urban environmental pollution issues and the development of a resource-saving and environmentally friendly social philosophy, the development of low-carbon and energy-efficient urban transport is required. This paper first defines vehicular trajectories and the calculation of vehicular emissions based on VSP. Next, a regression analysis method is used to quantify the relationship between vehicular emissions and delay, and a traffic signal control model is established to reduce emissions and delay using the enumeration method combined with saturation constraints. Finally, one typical intersection of Changchun is selected to verify the model proposed in this paper; its performance efficiency is also compared using simulations in VISSIM. The results of this study show that the proposed model can significantly reduce vehicle delay and traffic emissions simultaneously.

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

Science.gov (United States)

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

2014-01-01

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

Patterns of perceptual performance in Developmental Prosopagnosia

DEFF Research Database (Denmark)

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...

Optimal Joint Expected Delay Forwarding in Delay Tolerant Networks

OpenAIRE

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...

Ramathibodi Language Development Questionnaire: A Newly Developed Screening Tool for Detection of Delayed Language Development in Children Aged 18-30 Months.

Science.gov (United States)

Chuthapisith, Jariya; Wantanakorn, Pornchanok; Roongpraiwan, Rawiwan

2015-08-01

To develop a parental questionnaire for screening children with delayed language development in primary care settings. Ramathibodi Language Development (RLD) questionnaire was developed and completed by groups of 40 typically developing children age 18 to 30 months old and 30 children with delayed language development. The mean score was significantly lower in the delay language group (6.7 ± 1.9), comparing with the typically developing group (9.6 ± 0.7). The optimal ROC curve cut-off score was 8 with corresponding sensitivity and specificity were 98% and 72%, respectively. The corresponding area under the curve was 0.96 (95% CI = 0.92-0.99). The RLD questionnaire was the promising language developmental screening instrument that easily utilized in well-child examination settings.

Taurine protects methamphetamine-induced developmental angiogenesis defect through antioxidant mechanism

International Nuclear Information System (INIS)

Shao, Xue; Hu, Zhengtao; Hu, Chunyan; Bu, Qian; Yan, Guangyan; Deng, Pengchi; Lv, Lei; Wu, Dan; Deng, Yi; Zhao, Jinxuan; Zhu, Ruiming; Li, Yan; Li, Hongyu; Xu, Youzhi; Yang, Hanshuo; Zhao, Yinglan; Cen, Xiaobo

2012-01-01

Investigations have characterized addictive drug-induced developmental cardiovascular malformation in human, non-human primate and rodent. However, the underlying mechanism of malformation caused by drugs during pregnancy is still largely unknown, and preventive and therapeutic measures have been lacking. Using 1 H NMR spectroscopy, we profiled the metabolites from human embryo endothelial cells exposed to methamphetamine (METH) and quantified a total of 226 peaks. We identified 11 metabolites modified robustly and found that taurine markedly increased. We then validated the hypothesis that this dramatic increase in taurine could attribute to its effect in inhibiting METH-induced developmental angiogenesis defect. Taurine supplement showed a more significant potential than other metabolites in protecting against METH-induced injury in endothelial cells. Taurine strongly attenuated METH-induced inhibition of proliferation and migration in endothelial cells. Furthermore, death rate and vessel abnormality of zebrafish embryos treated with METH were greatly reversed by taurine. In addition, taurine supplement caused a rapid decrease in reactive oxygen species generation and strongly attenuated the excitable arise of antioxidase activities in the beginning of METH exposure prophase. Dysregulations of NF-κB, p-ERK as well as Bax, which reflect apoptosis, cell cycle arrest and oxidative stress in vascular endothelium, were blocked by taurine. Our results provide the first evidence that taurine prevents METH-caused developmental angiogenesis defect through antioxidant mechanism. Taurine could serve as a potential therapeutic or preventive intervention of developmental vascular malformation for the pregnant women with drug use. Highlights: ► Metabonomics findings. ► Abnormal development. ► Dysregulations of key proteins.

Taurine protects methamphetamine-induced developmental angiogenesis defect through antioxidant mechanism

Energy Technology Data Exchange (ETDEWEB)

Shao, Xue; Hu, Zhengtao; Hu, Chunyan; Bu, Qian; Yan, Guangyan [National Chengdu Center for Safety Evaluation of Drugs, State Key Lab of Biotherapy, West China Hospital, Sichuan University, Chengdu 610041 (China); Deng, Pengchi [Analytical and Testing Center, Sichuan University, Chengdu 610041 (China); Lv, Lei [National Chengdu Center for Safety Evaluation of Drugs, State Key Lab of Biotherapy, West China Hospital, Sichuan University, Chengdu 610041 (China); Wu, Dan [College of Basic and Forensic Medicine, Sichuan University, Chengdu 610041 (China); Deng, Yi; Zhao, Jinxuan; Zhu, Ruiming; Li, Yan; Li, Hongyu; Xu, Youzhi; Yang, Hanshuo; Zhao, Yinglan [National Chengdu Center for Safety Evaluation of Drugs, State Key Lab of Biotherapy, West China Hospital, Sichuan University, Chengdu 610041 (China); Cen, Xiaobo, E-mail: xbcenalan@vip.sina.com [National Chengdu Center for Safety Evaluation of Drugs, State Key Lab of Biotherapy, West China Hospital, Sichuan University, Chengdu 610041 (China)

2012-05-01

Investigations have characterized addictive drug-induced developmental cardiovascular malformation in human, non-human primate and rodent. However, the underlying mechanism of malformation caused by drugs during pregnancy is still largely unknown, and preventive and therapeutic measures have been lacking. Using {sup 1}H NMR spectroscopy, we profiled the metabolites from human embryo endothelial cells exposed to methamphetamine (METH) and quantified a total of 226 peaks. We identified 11 metabolites modified robustly and found that taurine markedly increased. We then validated the hypothesis that this dramatic increase in taurine could attribute to its effect in inhibiting METH-induced developmental angiogenesis defect. Taurine supplement showed a more significant potential than other metabolites in protecting against METH-induced injury in endothelial cells. Taurine strongly attenuated METH-induced inhibition of proliferation and migration in endothelial cells. Furthermore, death rate and vessel abnormality of zebrafish embryos treated with METH were greatly reversed by taurine. In addition, taurine supplement caused a rapid decrease in reactive oxygen species generation and strongly attenuated the excitable arise of antioxidase activities in the beginning of METH exposure prophase. Dysregulations of NF-κB, p-ERK as well as Bax, which reflect apoptosis, cell cycle arrest and oxidative stress in vascular endothelium, were blocked by taurine. Our results provide the first evidence that taurine prevents METH-caused developmental angiogenesis defect through antioxidant mechanism. Taurine could serve as a potential therapeutic or preventive intervention of developmental vascular malformation for the pregnant women with drug use. Highlights: ► Metabonomics findings. ► Abnormal development. ► Dysregulations of key proteins.

Aconitase and Developmental End Points as Early Indicators of

Directory of Open Access Journals (Sweden)

Oleksandr Vasyliovuch Lozinsky

2014-03-01

Full Text Available Background: In this study, the toxicity of the different xenobiotics was tested on the fruit fly Drosophila melanogaster model system. Methods: Fly larvae were raised on food supplemented with xenobiotics at different concentrations (sodium nitroprusside (0.1-1.5 mM, S-nitrosoglutathione (0.5-4 mM, and potassium ferrocyanide (1 mM. Emergence of flies, food intake by larvae, and pupation height preference as well as aconitase activity (in 2-day old flies were measured. Results: Food supplementation with xenobiotics caused a developmental delay in the flies and decreased pupation height. Biochemical analyses of oxidative stress markers and activities of antioxidants and their associated enzymes were carried out on 2-day-old flies emerged from control larvae and larvae fed on food supplemented with chemicals. Larval exposure to chemicals resulted in lower activities of aconitase in flies of both sexes and perturbation in activities of antioxidant enzymes. Conclusions: The results of this study showed that among a variety of parameters tested, aconitase activity, developmental endpoints, and pupation height may be used as reliable early indicators of toxicity caused by different chemicals.

The effects of tritiated water on some developmental stages of tilapia nilotica

International Nuclear Information System (INIS)

Carino, V.S.

1986-01-01

Seven developmental stages of Tilapia nilotica from gastrula (11 hr) to the active feeding and free swimming stage (10-d) were reared in tritiated water of concentrations 10 -3 10 -2 and 10 -1 Ci 1 -1 . The fish were reared for different lengths of time, the first group for the period till the next developmental stage and the second group till 3 weeks of age or day 21. Treated and control specimens were compared. An over-all delay in development was noted both at the gross morphological and the histological levels in the experimental fish. Growth was stunted. Many had unresorped yolk which was observable externally in the distended abdomens and histologically within the liver. Percent survival was lower in the treated fish and this was, in general, inversely related to developmental stage and tritium concentration of the rearing water. Posthatch larvae were sluggish to inactive. The liver exhibited histological aberrations which include the presence of adipose cells in place of liver parenchyma in the more anterior liver regions. Brains of treated fish, in general were smaller. One instance of an abnormal brain growth and findings on the retinal epithelium, spleen and pancreas are described. Development of gonads and digestive tract was, in general, retarded. (Auth.) 40 refs.; 5 tabs

Robust stabilisation of time-varying delay systems with probabilistic uncertainties

Science.gov (United States)

Jiang, Ning; Xiong, Junlin; Lam, James

2016-09-01

For robust stabilisation of time-varying delay systems, only sufficient conditions are available to date. A natural question is as follows: if the existing sufficient conditions are not satisfied, and hence no controllers can be found, what can one do to improve the stability performance of time-varying delay systems? This question is addressed in this paper when there is a probabilistic structure on the parameter uncertainty set. A randomised algorithm is proposed to design a state-feedback controller, which stabilises the system over the uncertainty domain in a probabilistic sense. The capability of the designed controller is quantified by the probability of stability of the resulting closed-loop system. The accuracy of the solution obtained from the randomised algorithm is also analysed. Finally, numerical examples are used to illustrate the effectiveness and advantages of the developed controller design approach.

Quantifying The Food And Drug Administration's rulemaking delays highlights the need for transparency.

Science.gov (United States)

Hwang, Thomas J; Avorn, Jerry; Carpenter, Daniel; Kesselheim, Aaron S

2014-02-01

The Food and Drug Administration (FDA) frequently uses its rulemaking process to establish or modify the way it regulates drugs, medical devices, and other medical products. The federal agency's rulemaking is controversial because of its perceived complexity, lack of transparency, and lengthy duration. To shed light on the FDA's rulemaking process, we examined the evolution of significant rules that the agency published during 2000-12 for drugs, devices, and other medical products. We found that the rules' median time to finalization was 7.3 years, with the pre-rule phase and postreview deliberation within the FDA accounting for the majority of that time. Rules that involved mandatory cost-benefit analyses were associated with an additional delay of approximately two years. We also found that longer review times were significantly associated with a reduction in the stringency of final rules, compared to the originally proposed versions. We recommend improving FDA's rulemaking by allocating additional resources to increase efficiency and by embarking on initiatives to promote transparency by the FDA and other parts of the executive branch.

Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth

DEFF Research Database (Denmark)

Nieminen, Pekka; Morgan, Neil V; Fenwick, Aimée L

2011-01-01

Craniosynostosis and supernumerary teeth most often occur as isolated developmental anomalies, but they are also separately manifested in several malformation syndromes. Here, we describe a human syndrome featuring craniosynostosis, maxillary hypoplasia, delayed tooth eruption, and supernumerary...... teeth. We performed homozygosity mapping in three unrelated consanguineous Pakistani families and localized the syndrome to a region in chromosome 9. Mutational analysis of candidate genes in the region revealed that all affected children harbored homozygous missense mutations (c.662C>G [p.Pro221Arg], c...... for the treatment of craniosynostosis....

The reproductive and developmental toxicity of High Flash Aromatic Naphtha.

Science.gov (United States)

McKee, R H; Wong, Z A; Schmitt, S; Beatty, P; Swanson, M; Schreiner, C A; Schardein, J L

1990-01-01

Catalytic reforming is a refining process that converts naphthenes to aromatics by dehydrogenation to make higher octane gasoline blending components. A portion of this wide boiling range hydrocarbon stream can be separated by distillation and used for other purposes. One such application is a mixture of predominantly 9-carbon aromatic molecules (C9 aromatics, primarily isomers of ethyltoluene and trimethylbenzene), which is removed and used as a solvent--High Flash Aromatic Naphtha. A program was initiated to assess the toxicological properties of High Flash Aromatic Naphtha since there may be human exposure through inhalation or external body contact. The current study was conducted to assess the potential for developmental toxicity in the mouse and for reproductive toxicity in the rat. In the developmental toxicity study in CD-1 mice, exposure of dams by inhalation to near lethal levels (1500 ppm) resulted in fetal mortality, reduced weight, delayed ossification, and an increased incidence of cleft palate. At 500 ppm, a level at which maternal weight gain was slightly reduced, fetal weight gain was also reduced, but there was no other evidence of developmental effects. The lowest exposure level (100 ppm) did not cause any maternal or developmental toxicity. There was no consistent evidence of reproductive toxicity in rats, even at exposure levels which resulted in significantly reduced parental weight gain. In addition, when parental exposure was stopped on GD (gestation day) 20, birth weights as well as postnatal survival were generally similar to control values, even in the 1500 ppm exposure group. Postnatal weight gain was also similar to controls early in weaning, but, if maternal exposure was reinitiated, weight gain was reduced in the high exposure group. However, when exposure was continued until delivery, pups in the high exposure group exhibited reduced litter size, birth weight and poor survival. Thus it was likely that the reduction in fetal weight

The Delay of Principle B Effect (DPBE) and Its Absence in Some Languages

Science.gov (United States)

Di Sciullo, Anna Maria; Aguero-Bautista, Calixto

2008-01-01

The Delay of Principle B Effect (DPBE) has been discussed in various studies that show that children around age 5 seem to violate Principle B of Binding Theory (Chomsky, 1981, and related works), when the antecedent of the pronoun is a name, but not when the antecedent is a quantifier. The analysis we propose can explain the DPBE in languages of…

The sensitivity of Turing self-organization to biological feedback delays: 2D models of fish pigmentation.

Science.gov (United States)

Gaffney, E A; Lee, S Seirin

2015-03-01

Turing morphogen models have been extensively explored in the context of large-scale self-organization in multicellular biological systems. However, reconciling the detailed biology of morphogen dynamics, while accounting for time delays associated with gene expression, reveals aberrant behaviours that are not consistent with early developmental self-organization, especially the requirement for exquisite temporal control. Attempts to reconcile the interpretation of Turing's ideas with an increasing understanding of the mechanisms driving zebrafish pigmentation suggests that one should reconsider Turing's model in terms of pigment cells rather than morphogens (Nakamasu et al., 2009, PNAS, 106: , 8429-8434; Yamaguchi et al., 2007, PNAS, 104: , 4790-4793). Here the dynamics of pigment cells is subject to response delays implicit in the cell cycle and apoptosis. Hence we explore simulations of fish skin patterning, focussing on the dynamical influence of gene expression delays in morphogen-based Turing models and response delays for cell-based Turing models. We find that reconciling the mechanisms driving the behaviour of Turing systems with observations of fish skin patterning remains a fundamental challenge. © The Authors 2013. Published by Oxford University Press on behalf of the Institute of Mathematics and its Applications. All rights reserved.

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

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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.

Operating Room Delays: Meaningful Use in Electronic Health Record.

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Van Winkle, Rachelle A; Champagne, Mary T; Gilman-Mays, Meri; Aucoin, Julia

2016-06-01

Perioperative areas are the most costly to operate and account for more than 40% of expenses. The high costs prompted one organization to analyze surgical delays through a retrospective review of their new electronic health record. Electronic health records have made it easier to access and aggregate clinical data; 2123 operating room cases were analyzed. Implementing a new electronic health record system is complex; inaccurate data and poor implementation can introduce new problems. Validating the electronic health record development processes determines the ease of use and the user interface, specifically related to user compliance with the intent of the electronic health record development. The revalidation process after implementation determines if the intent of the design was fulfilled and data can be meaningfully used. In this organization, the data fields completed through automation provided quantifiable, meaningful data. However, data fields completed by staff that required subjective decision making resulted in incomplete data nearly 24% of the time. The ease of use was further complicated by 490 permutations (combinations of delay types and reasons) that were built into the electronic health record. Operating room delay themes emerged notwithstanding the significant complexity of the electronic health record build; however, improved accuracy could improve meaningful data collection and a more accurate root cause analysis of operating room delays. Accurate and meaningful use of data affords a more reliable approach in quality, safety, and cost-effective initiatives.

Children in Institutional Care: Delayed Development and Resilience

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

2010-01-01

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

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.

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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...

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

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Elisabetta Palagi

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

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

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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

Visual and SPM analysis of regional cerebral perfusion with Tc-99m ECD brain SPECT in patients with developmental language disorder

International Nuclear Information System (INIS)

Yoon, Joon Kee; Lee, Myung Hoon; Joh, Chul Woo; Yoon, Seok Nam; Oh, Eun Young

2003-01-01

Developmental language disorder (DLD) refers to inadequate language acquisition at the expected age in children with otherwise normal development. However, language delay can be observed in patients with other developmental disoder (ODD). We, therefore, evaluated regional cerebral perfusion pattern in patients with DLD and ODD by means of visual and SPM analysis. Twelve patients, who underwent Tc-99m ECD brain SPECT within 3 weeks of their first visit, were included in the study. Psychological and language tests classified the patients into 2 groups ; 6 with DLD (3-7 yr, 5 male and I female) and 6 with ODD (2-6 yr, 6 male). Visual analysis for regional cerebral perfusion was done in each patient. SPM with 7 controls (age=7) was performed to evaluate difference between 2 groups using t-test. P value of less than 0.005 was considered to be significant. All patients had significant language delay for their age (9 month 3.5 yr). Among 6 patients with ODD, 4 had pervasive developmental disorder, 1 mental retardation and 1 attachment disorder. Visual analysis revealed significant perfusion decrease in only 1 patient with DLD and 2 with ODD ; the regions were left parieto-temporal cortex, both frontal and cerebellar cortices, and right temporal cortex respectively. Nine of 12 patients showed normal perfusion. SPM demonstrated perfusion decrease in left inferior frontal cortex and left superior parietal cortex (Wernicke's area) in patients with DLD, while, in patients with ODD, perfusion decrease was mostly located in the right hemisphere (lateral frontoorbital gyrus, occipitotemporal gyrus, cuneus and cerebellum). Corpus callosum showed no significant perfusion abnormality in both groups. Regional cerebral perfusion of patients with DLD, which was mainly located in the speech area, is quite different from that of ODD-patients with language delay. While SPM successfully revealed this difference in perfusion pattern, visual analysis had limited value

Visual and SPM analysis of regional cerebral perfusion with Tc-99m ECD brain SPECT in patients with developmental language disorder

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Yoon, Joon Kee; Lee, Myung Hoon; Joh, Chul Woo; Yoon, Seok Nam; Oh, Eun Young [College of Medicine, Univ. of Ajou, Suwon (Korea, Republic of)

2003-07-01

Developmental language disorder (DLD) refers to inadequate language acquisition at the expected age in children with otherwise normal development. However, language delay can be observed in patients with other developmental disoder (ODD). We, therefore, evaluated regional cerebral perfusion pattern in patients with DLD and ODD by means of visual and SPM analysis. Twelve patients, who underwent Tc-99m ECD brain SPECT within 3 weeks of their first visit, were included in the study. Psychological and language tests classified the patients into 2 groups ; 6 with DLD (3-7 yr, 5 male and I female) and 6 with ODD (2-6 yr, 6 male). Visual analysis for regional cerebral perfusion was done in each patient. SPM with 7 controls (age=7) was performed to evaluate difference between 2 groups using t-test. P value of less than 0.005 was considered to be significant. All patients had significant language delay for their age (9 month 3.5 yr). Among 6 patients with ODD, 4 had pervasive developmental disorder, 1 mental retardation and 1 attachment disorder. Visual analysis revealed significant perfusion decrease in only 1 patient with DLD and 2 with ODD ; the regions were left parieto-temporal cortex, both frontal and cerebellar cortices, and right temporal cortex respectively. Nine of 12 patients showed normal perfusion. SPM demonstrated perfusion decrease in left inferior frontal cortex and left superior parietal cortex (Wernicke's area) in patients with DLD, while, in patients with ODD, perfusion decrease was mostly located in the right hemisphere (lateral frontoorbital gyrus, occipitotemporal gyrus, cuneus and cerebellum). Corpus callosum showed no significant perfusion abnormality in both groups. Regional cerebral perfusion of patients with DLD, which was mainly located in the speech area, is quite different from that of ODD-patients with language delay. While SPM successfully revealed this difference in perfusion pattern, visual analysis had limited value.

Stability and delay sensitivity of neutral fractional-delay systems.

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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.

Developmental rates of immatures of three Chrysomya species (Diptera: Calliphoridae) under the effect of methylphenidate hydrochloride, phenobarbital, and methylphenidate hydrochloride associated with phenobarbital.

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Rezende, Fábio; Alonso, Marcela A; Souza, Carina M; Thyssen, Patrícia J; Linhares, Arício X

2014-05-01

Entomotoxicology is focused on obtaining data on necrophagous entomofauna, for criminal investigations purposes. This study aimed to evaluate the effect of different concentrations of methylphenidate hydrochloride, phenobarbital, and their association on the developmental rate, larval and pupal survivorship, and the interval of emergence of adults of Chrysomya albiceps (Wiedemann), Chrysomya megacephala (Fabricius), and Chrysomya putoria (Wiedemann) (Diptera: Calliphoridae). Considering the therapeutic dose (TD) of methylphenidate hydrochloride (0.29 mg/Kg), the concentrations tested were 10× TD, 50× TD, and 100× TD. For phenobarbital, the concentrations used were 1× TD (=150 mg/Kg), 3.3× TD, and 6.7× TD. For the association of the drugs, the combinations used were 10× TD-methylphenidate hydrochloride plus 1× TD-phenobarbital, 50× TD-methylphenidate hydrochloride plus 3.3× TD-phenobarbital, and 100× TD-methylphenidate hydrochloride plus 6.7× TD-phenobarbital. The control group, without addition of drug, was maintained under the same conditions of temperature (25 ± 1 °C), humidity (70 ± 10%), and photoperiod (12 h). Specimens of each group were weighed every 12 h until pupariation. The developmental rate of the three Chrysomya species immatures was monitored. For C. albiceps the developmental time was delayed in 24 h for methylphenidate hydrochloride group and in 12 h for the phenobarbital and the drugs association groups. The effect was observed only at specific ages for C. megacephala, without altering the developmental time. For C. putoria, the developmental time was delayed in 12 h for methylphenidate hydrochloride group and in 24 h for the phenobarbital and the drugs association groups. The emergence interval was similar among all experimental groups, but larval and pupal viabilities were affected in different ways.

Developmental outcome of low birth-weight and preterm newborns: a re-view of current evidence

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Farin Soleimani

2013-12-01

Full Text Available Low birth weight (LBW and preterm birth are one the most important causes of death in the world and therefore are considered as one of the major health problems. Global statistics demonstrates an increase in the prevalence of low birth weight in the developing countries. Low birth weight infants are exposed to complications such as major neurosensory impairements, cerebral palsy, cognitive and language delays, neuromotor developmental delay, blindness and hearing loss, behavioral and psychosocial disorders, learning difficulties and dysfunction in scholastic performances. The majority of infant's death and developmental disorders were due to disorders relating to prematurity and unspecified low birth weight. Infants weighing less than 2500 g, is a major determinant of both neonatal and infant mortality rates and, together with congenital anomalies (e.g., cardiac, central nervous system, and respiratory, contributes significantly to childhood morbidity. Various studies indicate that low birth weight infants are suffering from physiological and psychosocial disabilities, two to three times more than the other children. At school age, preterm and low birth weight infants have poorer physical growth, cognitive function, and school performance. These disadvantages appear to persist into adulthood and therefore have broad implications for society. Although the survival rates have increased dramatically and the incidence of morbidities has decreased, the complications are still considered to be associated with economical and social burdens. Most children with Low birth weight suffer from multiple disabilities. Therefore, they need special and consistent care. On demand of reducing the infant mortality rate, the need to decrease the complications in low birth weight and preterm infants should be considered by the policy makers in health care system. In this review article, we assessed current evidences on developmental outcomes of low birth weight and

The Domain of Developmental Psychopathology.

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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)

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

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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

Life Span Developmental Approach

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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.

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

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Killeen Peter R

2007-11-01

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

STRONG LENS TIME DELAY CHALLENGE. I. EXPERIMENTAL DESIGN

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Dobler, Gregory [Kavli Institute for Theoretical Physics, University of California Santa Barbara, Santa Barbara, CA 93106 (United States); Fassnacht, Christopher D.; Rumbaugh, Nicholas [Department of Physics, University of California, 1 Shields Avenue, Davis, CA 95616 (United States); Treu, Tommaso; Liao, Kai [Department of Physics, University of California, Santa Barbara, CA 93106 (United States); Marshall, Phil [Kavli Institute for Particle Astrophysics and Cosmology, P.O. Box 20450, MS29, Stanford, CA 94309 (United States); Hojjati, Alireza [Department of Physics and Astronomy, University of British Columbia, 6224 Agricultural Road, Vancouver, B.C. V6T 1Z1 (Canada); Linder, Eric, E-mail: tt@astro.ucla.edu [Lawrence Berkeley National Laboratory and University of California, Berkeley, CA 94720 (United States)

2015-02-01

The time delays between point-like images in gravitational lens systems can be used to measure cosmological parameters. The number of lenses with measured time delays is growing rapidly; the upcoming Large Synoptic Survey Telescope (LSST) will monitor ∼10{sup 3} strongly lensed quasars. In an effort to assess the present capabilities of the community, to accurately measure the time delays, and to provide input to dedicated monitoring campaigns and future LSST cosmology feasibility studies, we have invited the community to take part in a ''Time Delay Challenge'' (TDC). The challenge is organized as a set of ''ladders'', each containing a group of simulated data sets to be analyzed blindly by participating teams. Each rung on a ladder consists of a set of realistic mock observed lensed quasar light curves, with the rungs' data sets increasing in complexity and realism. The initial challenge described here has two ladders, TDC0 and TDC1. TDC0 has a small number of data sets, and is designed to be used as a practice set by the participating teams. The (non-mandatory) deadline for completion of TDC0 was the TDC1 launch date, 2013 December 1. The TDC1 deadline was 2014 July 1. Here we give an overview of the challenge, we introduce a set of metrics that will be used to quantify the goodness of fit, efficiency, precision, and accuracy of the algorithms, and we present the results of TDC0. Thirteen teams participated in TDC0 using 47 different methods. Seven of those teams qualified for TDC1, which is described in the companion paper.

Autonomous visual exploration creates developmental change in familiarity and novelty seeking behaviors

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Sammy ePerone

2013-09-01

Full Text Available What motivates children to radically transform themselves during early development? We addressed this question in the domain of infant visual exploration. Over the first year, infants’ exploration shifts from familiarity to novelty seeking. This shift is delayed in preterm relative to term infants and is stable within individuals over the course of the first year. Laboratory tasks have shed light on the nature of this familiarity-to-novelty shift, but it is not clear what motivates the infant to change her exploratory style. We probed this by letting a Dynamic Neural Field (DNF model of visual exploration develop itself via accumulating experience in a virtual world. We then situated it in a canonical laboratory task. Much like infants, the model exhibited a familiarity-to-novelty shift. When we manipulated the initial conditions of the model, the model’s performance was developmentally delayed much like preterm infants. This delay was overcome by enhancing the model’s experience during development. We also found that the model’s performance was stable at the level of the individual. Our simulations indicate that novelty seeking emerges with no explicit motivational source via the accumulation of visual experience within a complex, dynamical exploratory system.

Prefrontal Hemodynamics in Toddlers at Rest: A Pilot Study of Developmental Variability

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Afrouz A. Anderson

2017-05-01

Full Text Available Functional near infrared spectroscopy (fNIRS is a non-invasive functional neuroimaging modality. Although, it is amenable to use in infants and young children, there is a lack of fNIRS research within the toddler age range. In this study, we used fNIRS to measure cerebral hemodynamics in the prefrontal cortex (PFC in 18–36 months old toddlers (n = 29 as part of a longitudinal study that enrolled typically-developing toddlers as well as those “at risk” for language and other delays based on presence of early language delays. In these toddlers, we explored two hemodynamic response indices during periods of rest during which time audiovisual children's programming was presented. First, we investigate Lateralization Index, based on differences in oxy-hemoglobin saturation from left and right prefrontal cortex. Then, we measure oxygenation variability (OV index, based on variability in oxygen saturation at frequencies attributed to cerebral autoregulation. Preliminary findings show that lower cognitive (including language abilities are associated with fNIRS measures of both lower OV index and more extreme Lateralization index values. These preliminary findings show the feasibility of using fNIRS in toddlers, including those at risk for developmental delay, and lay the groundwork for future studies.

The rise of photoresponsive protein technologies applications in vivo: a spotlight on zebrafish developmental and cell biology [version 1; referees: 2 approved

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Renee Wei-Yan Chow

2017-04-01

Full Text Available The zebrafish (Danio rerio is a powerful vertebrate model to study cellular and developmental processes in vivo. The optical clarity and their amenability to genetic manipulation make zebrafish a model of choice when it comes to applying optical techniques involving genetically encoded photoresponsive protein technologies. In recent years, a number of fluorescent protein and optogenetic technologies have emerged that allow new ways to visualize, quantify, and perturb developmental dynamics. Here, we explain the principles of these new tools and describe some of their representative applications in zebrafish.

Emotional, behavioral, and developmental features indicative of neglect or emotional abuse in preschool children: a systematic review.

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Naughton, Aideen Mary; Maguire, Sabine Ann; Mann, Mala Kanthi; Lumb, Rebecca Caroline; Tempest, Vanessa; Gracias, Shirley; Kemp, Alison Mary

2013-08-01

Early intervention for neglect or emotional abuse in preschoolers may mitigate lifelong consequences, yet practitioners lack confidence in recognizing these children. To define the emotional, behavioral, and developmental features of neglect or emotional abuse in preschoolers. A literature search of 18 databases, 6 websites, and supplementary searching performed from January 1, 1960, to February 1, 2011, identified 22 669 abstracts. Standardized critical appraisal of 164 articles was conducted by 2 independent, trained reviewers. Inclusion criteria were children aged 0 to 6 years with confirmed neglect or emotional abuse who had emotional, behavioral, and developmental features recorded or for whom the carer-child interaction was documented. Twenty-eight case-control (matched for socioeconomic, educational level, and ethnicity), 1 cross-sectional, and 13 cohort studies were included. Key features in the child included the following: aggression (11 studies) exhibited as angry, disruptive behavior, conduct problems, oppositional behavior, and low ego control; withdrawal or passivity (12 studies), including negative self-esteem, anxious or avoidant behavior, poor emotional knowledge, and difficulties in interpreting emotional expressions in others; developmental delay (17 studies), particularly delayed language, cognitive function, and overall development quotient; poor peer interaction (5 studies), showing poor social interactions, unlikely to act to relieve distress in others; and transition (6 studies) from ambivalent to avoidant insecure attachment pattern and from passive to increasingly aggressive behavior and negative self-representation. Emotional knowledge, cognitive function, and language deteriorate without intervention. Poor sensitivity, hostility, criticism, or disinterest characterize maternal-child interactions. Preschool children who have been neglected or emotionally abused exhibit a range of serious emotional and behavioral difficulties and adverse

The association of abnormal cerebellar function in children with developmental coordination disorder and reading difficulties.

Science.gov (United States)

O'Hare, Anne; Khalid, Shabana

2002-01-01

Children with developmental coordination disorder/dyspraxia (DCD) are at high risk of reading and writing delay. The difficulties with motor skills are heterogeneous and many children have features of poor cerebellar function, reflected in problems with posture, balance and fast accurate control of movement. This study confirmed a high level of parental reporting of reading and writing delay in a clinical group of 23 children with DCD, defined on the basis of both clinical examination and standardized testing of motor function. Direct measurement of reading delay, identified still further children in the group. Those children with reading delay had associated findings typical of phonological awareness difficulties. The children also underwent a standardized test of neurological function and although they all had difficulties with cerebellar function, no distinctive pattern emerged for those whose presentation was complicated by delayed reading and writing. Both the children with DCD and 136 typically developing children, completed the pilot parental questionnaire on gross motor skills. The three skills of catching a ball, jumping on a moving playground roundabout and handwriting, distinguished the children with DCD. This study therefore confirms that children with DCD should be assessed for difficulties in phonological awareness. Additionally, children aged between 7 and 12 years are on the whole, highly competent in a range of gross motor skills and further study might determine whether a simple parental questionnaire might detect children who would benefit from further assessment. The study also suggests that all the children with DCD have cerebellar dysfunction and further work with a larger group might determine particular patterns associated with reading delay.

Fundamentals of Delayed Coking Joint Industry Project

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Michael Volk Jr; Keith Wisecarver

2005-10-01

is 2,937,439 barrels/calendar day. These cokers produce 154,607 tons of coke per day and delayed coking accounts for 88% of the world capacity. The delayed coking charge capacity in the United States is 1,787,860 b/cd. Despite its wide commercial use, only relatively few contractors and refiners are truly knowledgeable in delayed-coking design, so that this process carries with it a ''black art'' connotation. Until recently, the expected yield from cokers was determined by a simple laboratory test on the feedstock. As a result of Tulsa University's prior related research, a process model was developed that with additional work could be used to optimize existing delayed cokers over a wide range of potential feedstocks and operating conditions. The objectives of this research program are to: utilize the current micro, batch and pilot unit facilities at The University of Tulsa to enhance the understanding of the coking process; conduct additional micro and pilot unit tests with new and in-house resids and recycles to make current optimization models more robust; conduct focused kinetic experiments to enhance the furnace tube model and to enhance liquid production while minimizing sulfur in the products; conduct detailed foaming studies to optimize the process and minimize process upsets; quantify the parameters that affect coke morphology; and to utilize the knowledge gained from the experimental and modeling studies to enhance the computer programs developed in the previous JIP for optimization of the coking process. These refined computer models will then be tested against refinery data provided by the member companies. Novel concepts will also be explored for hydrogen sulfide removal of furnace gases as well as gas injection studies to reduce over-cracking. The following deliverables are scheduled from the two projects of the three-year JIP: (1) A novel method for enhancing liquid yields from delayed cokers and data that provide insight as to

The developmental stage of strongyle eggs affects the outcome of real-time PCR analysis

DEFF Research Database (Denmark)

Roust, Tina; Haakansson, Ida T.; Rhod, Maria

Several molecular diagnostic tests are based upon measuring and quantifying DNA obtained from parasite eggs. It is well-known that such eggs undergo development during storage, but it remains unknown to which extent the stage of development can affect the diagnostic test result. This project...... investigated whether the developmental stage of strongyle eggs affects real-time polymerase chain reaction (PCR) results. Mixed species strongyle eggs were obtained from the faeces of a naturally infected horse. Eggs were isolated and placed in microtiter plates with demineralised water. A total of 25 wells...... containing 100 eggs each were set up and kept refrigerated for up to five days. Once daily, five wells were microscopied on an inverted microscope, the developmental stages of the eggs were noted, and the eggs harvested for DNA extraction. The protocol was repeated three times. Genomic DNA was extracted...

Can Adolescents Learn Self-control? Delay of Gratification in the Development of Control over Risk Taking

Science.gov (United States)

Duckworth, Angela L.; Sznitman, Sharon; Park, Sunhee

2010-01-01

Recent findings from developmental neuroscience suggest that the adolescent brain is too immature to exert control over impulsive drives, such as sensation seeking, that increase during adolescence. Using a discounting of delayed reward paradigm, this research examines the ability to delay gratification as a potential source of control over risk-taking tendencies that increase during adolescence. In addition, it explores the role of experience resulting from risk taking as well as future time perspective as contributors to the development of this ability. In a nationally representative sample (n=900) of young people aged 14–22, a structural equation analysis shows that risk taking as assessed by use of three popular drugs (tobacco, marijuana, and alcohol) is inversely related to the ability to delay gratification. The relation is robust across gender, age, and different levels of sensation seeking. In addition, high sensation seekers exhibit dramatic age-related increase in delay of gratification, lending support to the hypothesis that engaging in risky behavior provides experience that leads to greater patience for long-term rewards. The findings support the conclusion that a complete understanding of the development of self-control must consider individual differences not easily explained by universal trends in brain maturation. PMID:20306298

Developmental Differences in the Effects of Repeated Interviews and Interviewer Bias on Young Children’s Event Memory and False Reports

Science.gov (United States)

Quas, Jodi A.; Malloy, Lindsay C.; Melinder, Annika; Goodman, Gail S.; D’Mello, Michelle; Schaaf, Jennifer

2010-01-01

The present study investigated developmental differences in the effects of repeated interviews and interviewer bias on children’s memory and suggestibility. Three- and 5-year-olds were singly or repeatedly interviewed about a play event by a highly biased or control interviewer. Children interviewed once by the biased interviewer after a long delay made the most errors. Children interviewed repeatedly, regardless of interviewer bias, were more accurate and less likely to falsely claim that they played with a man. In free recall, among children questioned once after a long delay by the biased interviewer, 5-year-olds were more likely than were 3-year-olds to claim falsely that they played with a man. However, in response to direct questions, 3-year-olds were more easily manipulated into implying that they played with him. Findings suggest that interviewer bias is particularly problematic when children’s memory has weakened. In contrast, repeated interviews that occur a short time after a to-be-remembered event do not necessarily increase children’s errors, even when interviews include misleading questions and interviewer bias. Implications for developmental differences in memory and suggestibility are discussed. PMID:17605517

Delayed embryonic development in the Indian short-nosed fruit bat, Cynopterus sphinx.

Science.gov (United States)

Meenakumari, Karukayil J; Krishna, Amitabh

2005-01-01

The unusual feature of the breeding cycle of Cynopterus sphinx at Varanasi is the significant variation in gestation length of the two successive pregnancies of the year. The aim of this study was to investigate whether the prolongation of the first pregnancy in C. sphinx is due to delayed embryonic development. The first (winter) pregnancy commences in late October and lasts until late March and has a gestation period of about 150 days. The second (summer) pregnancy commences in April and lasts until the end of July or early August with a gestation period of about 125 days. Changes in the size and weight of uterine cornua during the two successive pregnancies suggest retarded embryonic growth during November and December. Histological analysis during the period of retarded embryonic development in November and December showed a slow gastrulation process. The process of amniogenesis was particularly slow. When the embryos attained the early primitive streak stage, their developmental rate suddenly increased considerably. During the summer pregnancy, on the other hand, the process of gastrulation was much faster and proceeded quickly. A comparison of the pattern of embryonic development for 4 consecutive years consistently showed retarded or delayed embryonic development during November and December. The time of parturition and post-partum oestrus showed only a limited variation from 1 year to another. This suggests that delayed embryonic development in C. sphinx may function to synchronize parturition among females. The period of delayed embryonic development in this species clearly coincides with the period of fat deposition. The significance of this correlation warrants further investigation.

A dynamic developmental theory of attention-deficit/hyperactivity disorder (ADHD) predominantly hyperactive/impulsive and combined subtypes.

Science.gov (United States)

Sagvolden, Terje; Johansen, Espen Borgå; Aase, Heidi; Russell, Vivienne Ann

2005-06-01

Attention-deficit/hyperactivity disorder (ADHD) is currently defined as a cognitive/behavioral developmental disorder where all clinical criteria are behavioral. Inattentiveness, overactivity, and impulsiveness are presently regarded as the main clinical symptoms. The dynamic developmental behavioral theory is based on the hypothesis that altered dopaminergic function plays a pivotal role by failing to modulate nondopaminergic (primarily glutamate and GABA) signal transmission appropriately. A hypofunctioning mesolimbic dopamine branch produces altered reinforcement of behavior and deficient extinction of previously reinforced behavior. This gives rise to delay aversion, development of hyperactivity in novel situations, impulsiveness, deficient sustained attention, increased behavioral variability, and failure to "inhibit" responses ("disinhibition"). A hypofunctioning mesocortical dopamine branch will cause attention response deficiencies (deficient orienting responses, impaired saccadic eye movements, and poorer attention responses toward a target) and poor behavioral planning (poor executive functions). A hypofunctioning nigrostriatal dopamine branch will cause impaired modulation of motor functions and deficient nondeclarative habit learning and memory. These impairments will give rise to apparent developmental delay, clumsiness, neurological "soft signs," and a "failure to inhibit" responses when quick reactions are required. Hypofunctioning dopamine branches represent the main individual predispositions in the present theory. The theory predicts that behavior and symptoms in ADHD result from the interplay between individual predispositions and the surroundings. The exact ADHD symptoms at a particular time in life will vary and be influenced by factors having positive or negative effects on symptom development. Altered or deficient learning and motor functions will produce special needs for optimal parenting and societal styles. Medication will to some degree

Modeling the developmental patterns of auditory evoked magnetic fields in children.

Directory of Open Access Journals (Sweden)

Rupesh Kotecha

Full Text Available BACKGROUND: As magnetoencephalography (MEG is of increasing utility in the assessment of deficits and development delays in brain disorders in pediatrics, it becomes imperative to fully understand the functional development of the brain in children. METHODOLOGY: The present study was designed to characterize the developmental patterns of auditory evoked magnetic responses with respect to age and gender. Sixty children and twenty adults were studied with a 275-channel MEG system. CONCLUSIONS: Three main responses were identified at approximately 46 ms (M50, 71 ms (M70 and 106 ms (M100 in latency for children. The latencies of M70 and M100 shortened with age in both hemispheres; the latency of M50 shortened with age only in the right hemisphere. Analysis of developmental lateralization patterns in children showed that the latency of the right hemispheric evoked responses shortened faster than the corresponding left hemispheric responses. The latency of M70 in the right hemisphere highly correlated to the age of the child. The amplitudes of the M70 responses increased with age and reached their peaks in children 12-14 years of age, after which they decreased with age. The source estimates for the M50 and M70 responses indicated that they were generated in different subareas in the Heschl's gyrus in children, while not localizable in adults. Furthermore, gender also affected developmental patterns. The latency of M70 in the right hemisphere was proposed to be an index of auditory development in children, the modeling equation is 85.72-1.240xAge (yrs. Our results demonstrate that there is a clear developmental pattern in the auditory cortex and underscore the importance of M50 and M70 in the developing brain.

Analysis of Uncertainties in Protection Heater Delay Time Measurements and Simulations in Nb$_{3}$Sn High-Field Accelerator Magnets

CERN Document Server

Salmi, Tiina; Marchevsky, Maxim; Bajas, Hugo; Felice, Helene; Stenvall, Antti

2015-01-01

The quench protection of superconducting high-field accelerator magnets is presently based on protection heaters, which are activated upon quench detection to accelerate the quench propagation within the winding. Estimations of the heater delay to initiate a normal zone in the coil are essential for the protection design. During the development of Nb3Sn magnets for the LHC luminosity upgrade, protection heater delays have been measured in several experiments, and a new computational tool CoHDA (Code for Heater Delay Analysis) has been developed for heater design. Several computational quench analyses suggest that the efficiency of the present heater technology is on the borderline of protecting the magnets. Quantifying the inevitable uncertainties related to the measured and simulated delays is therefore of pivotal importance. In this paper, we analyze the uncertainties in the heater delay measurements and simulations using data from five impregnated high-field Nb3Sn magnets with different heater geometries. ...

Analysis of Uncertainties in Protection Heater Delay Time Measurements and Simulations in Nb$_{3}$Sn High-Field Accelerator Magnets

CERN Document Server

Salmi, Tiina; Marchevsky, Maxim; Bajas, Hugo; Felice, Helene; Stenvall, Antti

2015-01-01

The quench protection of superconducting high-field accelerator magnets is presently based on protection heaters, which are activated upon quench detection to accelerate the quench propagation within the winding. Estimations of the heater delay to initiate a normal zone in the coil are essential for the protection design. During the development of Nb$_{3}$Sn magnets for the LHC luminosity upgrade, protection heater delays have been measured in several experiments, and a new computational tool CoHDA (Code for Heater Delay Analysis) has been developed for heater design. Several computational quench analyses suggest that the efficiency of the present heater technology is on the borderline of protecting the magnets. Quantifying the inevitable uncertainties related to the measured and simulated delays is therefore of pivotal importance. In this paper, we analyze the uncertainties in the heater delay measurements and simulations using data from five impregnated high-field Nb$_{3}$Sn magnets with different heater ge...

Fuzzy delay model based fault simulator for crosstalk delay fault test ...

Indian Academy of Sciences (India)

In this paper, a fuzzy delay model based crosstalk delay fault simulator is proposed. As design trends move towards nanometer technologies, more number of new parameters affects the delay of the component. Fuzzy delay models are ideal for modelling the uncertainty found in the design and manufacturing steps.

On the cost/delay tradeoff of wireless delay tolerant geographic routing

OpenAIRE

Tasiopoulos, Argyrios; Tsiaras, Christos; Toumpis, Stavros

2012-01-01

In Delay Tolerant Networks (DTNs), there is a fundamental tradeoff between the aggregate transport cost of a packet and the delay in its delivery. We study this tradeoff in the context of geographical routing in wireless DTNs.We ?rst specify the optimal cost/delay tradeoff, i.e., the tradeoff under optimal network operation, using a dynamic network construction termed the Cost/Delay Evolving Graph (C/DEG) and the Optimal Cost/Delay Curve (OC/DC), a function that gives the minimum possible agg...

Effects of delayed polymerization time and bracket manipulation on orthodontic resin modified glass ionomer adhesive

Science.gov (United States)

Gilbert, Danielle Wiggins

This study examined the effect of varying delayed polymerization times in combination with bracket manipulation on shear bond strength (SBS), degree of conversion (DC), and adhesive remnant index (ARI) score when using a resin modified glass ionomer (RMGI) adhesive. Specimens were divided into three groups of clinically relevant delay times (0.5, 2, and 4-min) to simulate the delay that frequently occurs between bracket placement and manipulation and subsequent light curing. Based on an analysis of variance (alpha=.05), the SBS was not significantly different between the three groups. While one of the goals of this study was to be the first study to quantify DC of RMGI using Raman microspectroscopy, several challenges, including weak peak signal with and without fluorescence, were encountered and as a result, DC could not be determined. A significant difference (pbracket with increasing delay time. A Spearman correlation between SBS and ARI indicated no positive association between SBS and ARI measures across delay times. The results of this study suggest that clinically relevant delay times of 0.5, 2, and 4-min do not negatively impact the SBS of a RMGI adhesive. However, with increasing delay time, the results suggest that more adhesive might remain on the bracket during debonding. With more adhesive remaining on the bracket, this could be beneficial in that less adhesive needs to be removed from enamel by grinding at the time of bracket removal when orthodontic treatment is completed.

Leveraging delay discounting for health: Can time delays influence food choice?

Science.gov (United States)

Appelhans, Bradley M; French, Simone A; Olinger, Tamara; Bogucki, Michael; Janssen, Imke; Avery-Mamer, Elizabeth F; Powell, Lisa M

2018-03-15

Delay discounting, the tendency to choose smaller immediate rewards over larger delayed rewards, is theorized to promote consumption of immediately rewarding but unhealthy foods at the expense of long-term weight maintenance and nutritional health. An untested implication of delay discounting models of decision-making is that selectively delaying access to less healthy foods may promote selection of healthier (immediately available) alternatives, even if they may be less desirable. The current study tested this hypothesis by measuring healthy versus regular vending machine snack purchasing before and during the implementation of a 25-s time delay on the delivery of regular snacks. Purchasing was also examined under a $0.25 discount on healthy snacks, a $0.25 tax on regular snacks, and the combination of both pricing interventions with the 25-s time delay. Across 32,019 vending sales from three separate vending locations, the 25-s time delay increased healthy snack purchasing from 40.1% to 42.5%, which was comparable to the impact of a $0.25 discount (43.0%). Combining the delay and the discount had a roughly additive effect (46.0%). However, the strongest effects were seen under the $0.25 tax on regular snacks (53.7%) and the combination of the delay and the tax (50.2%). Intervention effects varied substantially between vending locations. Importantly, time delays did not harm overall vending sales or revenue, which is relevant to the real-world feasibility of this intervention. More investigation is needed to better understand how the impact of time delays on food choice varies across populations, evaluate the effects of time delays on beverage vending choices, and extend this approach to food choices in contexts other than vending machines. ClinicalTrials.gov, NCT02359916. Copyright © 2018 Elsevier Ltd. All rights reserved.

Building a developmental toxicity ontology.

Science.gov (United States)

Baker, Nancy; Boobis, Alan; Burgoon, Lyle; Carney, Edward; Currie, Richard; Fritsche, Ellen; Knudsen, Thomas; Laffont, Madeleine; Piersma, Aldert H; Poole, Alan; Schneider, Steffen; Daston, George

2018-04-03

As more information is generated about modes of action for developmental toxicity and more data are generated using high-throughput and high-content technologies, it is becoming necessary to organize that information. This report discussed the need for a systematic representation of knowledge about developmental toxicity (i.e., an ontology) and proposes a method to build one based on knowledge of developmental biology and mode of action/ adverse outcome pathways in developmental toxicity. This report is the result of a consensus working group developing a plan to create an ontology for developmental toxicity that spans multiple levels of biological organization. This report provide a description of some of the challenges in building a developmental toxicity ontology and outlines a proposed methodology to meet those challenges. As the ontology is built on currently available web-based resources, a review of these resources is provided. Case studies on one of the most well-understood morphogens and developmental toxicants, retinoic acid, are presented as examples of how such an ontology might be developed. This report outlines an approach to construct a developmental toxicity ontology. Such an ontology will facilitate computer-based prediction of substances likely to induce human developmental toxicity. © 2018 Wiley Periodicals, Inc.

Quantifying Matter

CERN Document Server

Angelo, Joseph A

2011-01-01

Quantifying Matter explains how scientists learned to measure matter and quantify some of its most fascinating and useful properties. It presents many of the most important intellectual achievements and technical developments that led to the scientific interpretation of substance. Complete with full-color photographs, this exciting new volume describes the basic characteristics and properties of matter. Chapters include:. -Exploring the Nature of Matter. -The Origin of Matter. -The Search for Substance. -Quantifying Matter During the Scientific Revolution. -Understanding Matter's Electromagnet

Prevalence of pervasive developmental disorders in preschool children in the UAE.

Science.gov (United States)

Eapen, Valsamma; Mabrouk, Abdul Azim; Zoubeidi, Taoufik; Yunis, Feisal

2007-06-01

Available evidence from the literature suggests that the prevalence of autistic disorder may be on the rise world wide, but no prevalence studies have been carried out till date in the Arabian Gulf region. A representative random sample of 694 three-year-old United Arab Emirates national children was evaluated in a two-stage study in the community. In the first stage, using Autism Screening Questionnaire, 58 per 10,000 children were noted to have autistic features. In the second stage using clinical interview, the weighted prevalence was estimated to be 29 per 10,000 for a DSM-IV diagnosis of pervasive developmental disorder (PDD). However, none of these children had been diagnosed prior to the study. Presence of autistic features was associated with male gender, presence of behavioural problems and a family history of developmental delay. The rate of PDD observed in the UAE is comparable with that reported from western countries. However, the lack of recognition of these disorders suggests the need for a comprehensive screening program, as early diagnosis can open the door for early intervention which in turn may improve the prognosis.

Transgenerational developmental programming.

Science.gov (United States)

Aiken, Catherine E; Ozanne, Susan E

2014-01-01

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

Gene expression profiles in the cerebellum and hippocampus following exposure to a neurotoxicant, Aroclor 1254: Developmental effects

International Nuclear Information System (INIS)

Royland, Joyce E.; Wu, Jinfang; Zawia, Nasser H.; Kodavanti, Prasada Rao S.

2008-01-01

The developmental consequences of exposure to the polychlorinated biphenyls (PCBs) have been widely studied, making PCBs a unique model to understand issues related to environmental mixture of persistent chemicals. PCB exposure in humans adversely affects neurocognitive development, causes psychomotor difficulties, and contributes to attention deficits in children, all of which seem to be associated with altered patterns of neuronal connectivity. In the present study, we examined gene expression profiles in the rat nervous system following PCB developmental exposure. Pregnant rats (Long-Evans) were dosed perinatally with 0 or 6 mg/kg/day of Aroclor 1254 from gestation day 6 through postnatal day (PND) 21. Gene expression in cerebellum and hippocampus from PND7 and PND14 animals was analyzed with an emphasis on developmental aspects. Changes in gene expression (≥ 1.5 fold) in control animals identified normal developmental changes. These basal levels of expression were compared to data from Aroclor 1254-treated animals to determine the impact of gestational PCB exposure on developmental parameters. The results indicate that the expression of a number of developmental genes related to cell cycle, synaptic function, cell maintenance, and neurogenesis is significantly altered from PND7 to PND14. Aroclor 1254 treatment appears to dampen the overall growth-related gene expression levels in both regions with the effect being more pronounced in the cerebellum. Functional analysis suggests that Aroclor 1254 delays maturation of the developing nervous system, with the consequences dependent on the ontological state of the brain area and the functional role of the individual gene. Such changes may underlie learning and memory deficits observed in PCB exposed animals and humans

Representing delayed force feedback as a combination of current and delayed states.

Science.gov (United States)

Avraham, Guy; Mawase, Firas; Karniel, Amir; Shmuelof, Lior; Donchin, Opher; Mussa-Ivaldi, Ferdinando A; Nisky, Ilana

2017-10-01

To adapt to deterministic force perturbations that depend on the current state of the hand, internal representations are formed to capture the relationships between forces experienced and motion. However, information from multiple modalities travels at different rates, resulting in intermodal delays that require compensation for these internal representations to develop. To understand how these delays are represented by the brain, we presented participants with delayed velocity-dependent force fields, i.e., forces that depend on hand velocity either 70 or 100 ms beforehand. We probed the internal representation of these delayed forces by examining the forces the participants applied to cope with the perturbations. The findings showed that for both delayed forces, the best model of internal representation consisted of a delayed velocity and current position and velocity. We show that participants relied initially on the current state, but with adaptation, the contribution of the delayed representation to adaptation increased. After adaptation, when the participants were asked to make movements with a higher velocity for which they had not previously experienced with the delayed force field, they applied forces that were consistent with current position and velocity as well as delayed velocity representations. This suggests that the sensorimotor system represents delayed force feedback using current and delayed state information and that it uses this representation when generalizing to faster movements. NEW & NOTEWORTHY The brain compensates for forces in the body and the environment to control movements, but it is unclear how it does so given the inherent delays in information transmission and processing. We examined how participants cope with delayed forces that depend on their arm velocity 70 or 100 ms beforehand. After adaptation, participants applied opposing forces that revealed a partially correct representation of the perturbation using the current and the

Between two beds: inappropriately delayed discharges from hospitals.

Science.gov (United States)

Holmås, Tor Helge; Islam, Mohammad Kamrul; Kjerstad, Egil

2013-12-01

Acknowledging the necessity of a division of labour between hospitals and social care services regarding treatment and care of patients with chronic and complex conditions, is to acknowledge the potential conflict of interests between health care providers. A potentially important conflict is that hospitals prefer comparatively short length of stay (LOS) at hospital, while social care services prefer longer LOS all else equal. Furthermore, inappropriately delayed discharges from hospital, i.e. bed blocking, is costly for society. Our aim is to discuss which factors that may influence bed blocking and to quantify bed blocking costs using individual Norwegian patient data, merged with social care and hospital data. The data allow us to divide hospital LOS into length of appropriate stay (LAS) and length of delay (LOD), the bed blocking period. We find that additional resources allocated to social care services contribute to shorten LOD indicating that social care services may exploit hospital resources as a buffer for insufficient capacity. LAS increases as medical complexity increases indicating hospitals incentives to reduce LOS are softened by considerations related to patients’ medical needs. Bed blocking costs constitute a relatively large share of the total costs of inpatient care.

Hydrocephalus and arthrogryposis in an immunocompetent mouse model of ZIKA teratogeny: A developmental study

Science.gov (United States)

Xavier-Neto, Jose; Carvalho, Murilo; Pascoalino, Bruno dos Santos; Cardoso, Alisson Campos; Costa, Ângela Maria Sousa; Pereira, Ana Helena Macedo; Santos, Luana Nunes; Saito, Ângela; Marques, Rafael Elias; Smetana, Juliana Helena Costa; Consonni, Silvio Roberto; Bandeira, Carla; Costa, Vivian Vasconcelos; Bajgelman, Marcio Chaim; de Oliveira, Paulo Sérgio Lopes; Cordeiro, Marli Tenorio; Gonzales Gil, Laura Helena Vega; Pauletti, Bianca Alves; Granato, Daniela Campos; Paes Leme, Adriana Franco; Freitas-Junior, Lucio; Holanda de Freitas, Carolina Borsoi Moraes; Teixeira, Mauro Martins; Bevilacqua, Estela; Franchini, Kleber

2017-01-01

The teratogenic mechanisms triggered by ZIKV are still obscure due to the lack of a suitable animal model. Here we present a mouse model of developmental disruption induced by ZIKV hematogenic infection. The model utilizes immunocompetent animals from wild-type FVB/NJ and C57BL/6J strains, providing a better analogy to the human condition than approaches involving immunodeficient, genetically modified animals, or direct ZIKV injection into the brain. When injected via the jugular vein into the blood of pregnant females harboring conceptuses from early gastrulation to organogenesis stages, akin to the human second and fifth week of pregnancy, ZIKV infects maternal tissues, placentas and embryos/fetuses. Early exposure to ZIKV at developmental day 5 (second week in humans) produced complex manifestations of anterior and posterior dysraphia and hydrocephalus, as well as severe malformations and delayed development in 10.5 days post-coitum (dpc) embryos. Exposure to the virus at 7.5–9.5 dpc induces intra-amniotic hemorrhage, widespread edema, and vascular rarefaction, often prominent in the cephalic region. At these stages, most affected embryos/fetuses displayed gross malformations and/or intrauterine growth restriction (IUGR), rather than isolated microcephaly. Disrupted conceptuses failed to achieve normal developmental landmarks and died in utero. Importantly, this is the only model so far to display dysraphia and hydrocephalus, the harbinger of microcephaly in humans, as well as arthrogryposis, a set of abnormal joint postures observed in the human setting. Late exposure to ZIKV at 12.5 dpc failed to produce noticeable malformations. We have thus characterized a developmental window of opportunity for ZIKV-induced teratogenesis encompassing early gastrulation, neurulation and early organogenesis stages. This should not, however, be interpreted as evidence for any safe developmental windows for ZIKV exposure. Late developmental abnormalities correlated with

Hydrocephalus and arthrogryposis in an immunocompetent mouse model of ZIKA teratogeny: A developmental study.

Directory of Open Access Journals (Sweden)

Jose Xavier-Neto

2017-02-01

Full Text Available The teratogenic mechanisms triggered by ZIKV are still obscure due to the lack of a suitable animal model. Here we present a mouse model of developmental disruption induced by ZIKV hematogenic infection. The model utilizes immunocompetent animals from wild-type FVB/NJ and C57BL/6J strains, providing a better analogy to the human condition than approaches involving immunodeficient, genetically modified animals, or direct ZIKV injection into the brain. When injected via the jugular vein into the blood of pregnant females harboring conceptuses from early gastrulation to organogenesis stages, akin to the human second and fifth week of pregnancy, ZIKV infects maternal tissues, placentas and embryos/fetuses. Early exposure to ZIKV at developmental day 5 (second week in humans produced complex manifestations of anterior and posterior dysraphia and hydrocephalus, as well as severe malformations and delayed development in 10.5 days post-coitum (dpc embryos. Exposure to the virus at 7.5-9.5 dpc induces intra-amniotic hemorrhage, widespread edema, and vascular rarefaction, often prominent in the cephalic region. At these stages, most affected embryos/fetuses displayed gross malformations and/or intrauterine growth restriction (IUGR, rather than isolated microcephaly. Disrupted conceptuses failed to achieve normal developmental landmarks and died in utero. Importantly, this is the only model so far to display dysraphia and hydrocephalus, the harbinger of microcephaly in humans, as well as arthrogryposis, a set of abnormal joint postures observed in the human setting. Late exposure to ZIKV at 12.5 dpc failed to produce noticeable malformations. We have thus characterized a developmental window of opportunity for ZIKV-induced teratogenesis encompassing early gastrulation, neurulation and early organogenesis stages. This should not, however, be interpreted as evidence for any safe developmental windows for ZIKV exposure. Late developmental abnormalities

Asymptotic Delay Analysis for Cross-Layer Delay-Based Routing in Ad Hoc Networks

Directory of Open Access Journals (Sweden)

Philippe Jacquet

2007-01-01

Full Text Available This paper addresses the problem of the evaluation of the delay distribution via analytical means in IEEE 802.11 wireless ad hoc networks. We show that the asymptotic delay distribution can be expressed as a power law. Based on the latter result, we present a cross-layer delay estimation protocol and we derive new delay-distribution-based routing algorithms, which are well adapted to the QoS requirements of real-time multimedia applications. In fact, multimedia services are not sensitive to average delays, but rather to the asymptotic delay distributions. Indeed, video streaming applications drop frames when they are received beyond a delay threshold, determined by the buffer size. Although delay-distribution-based routing is an NP-hard problem, we show that it can be solved in polynomial time when the delay threshold is large, because of the asymptotic power law distribution of the link delays.

The fossil record of phenotypic integration and modularity: A deep-time perspective on developmental and evolutionary dynamics.

Science.gov (United States)

Goswami, Anjali; Binder, Wendy J; Meachen, Julie; O'Keefe, F Robin

2015-04-21

Variation is the raw material for natural selection, but the factors shaping variation are still poorly understood. Genetic and developmental interactions can direct variation, but there has been little synthesis of these effects with the extrinsic factors that can shape biodiversity over large scales. The study of phenotypic integration and modularity has the capacity to unify these aspects of evolutionary study by estimating genetic and developmental interactions through the quantitative analysis of morphology, allowing for combined assessment of intrinsic and extrinsic effects. Data from the fossil record in particular are central to our understanding of phenotypic integration and modularity because they provide the only information on deep-time developmental and evolutionary dynamics, including trends in trait relationships and their role in shaping organismal diversity. Here, we demonstrate the important perspective on phenotypic integration provided by the fossil record with a study of Smilodon fatalis (saber-toothed cats) and Canis dirus (dire wolves). We quantified temporal trends in size, variance, phenotypic integration, and direct developmental integration (fluctuating asymmetry) through 27,000 y of Late Pleistocene climate change. Both S. fatalis and C. dirus showed a gradual decrease in magnitude of phenotypic integration and an increase in variance and the correlation between fluctuating asymmetry and overall integration through time, suggesting that developmental integration mediated morphological response to environmental change in the later populations of these species. These results are consistent with experimental studies and represent, to our knowledge, the first deep-time validation of the importance of developmental integration in stabilizing morphological evolution through periods of environmental change.

Evaluation of the Esthetic Properties of Developmental Defects of Enamel: A Spectrophotometric Clinical Study

Directory of Open Access Journals (Sweden)

Fabrizio Guerra

2015-01-01

Full Text Available Objectives. Detailed clinical quantification of optical properties of developmental defect of enamel is possible with spectrophotometric evaluation. Developmental defects of enamel (DDE are daily encountered in clinical practice. DDE are an alteration in quality and quantity of the enamel, caused by disruption and/or damage to the enamel organ during amelogenesis. Methods. Several clinical indices have been developed to categorize enamel defects based on their nature, appearance, microscopic features, or cause. A sample of 39 permanent teeth presenting DDE on labial surface was examined using the DDE Modified Index and SpectroShade evaluation. The spectrophotometric approach quantifies L* (luminosity, a* (quantity of green-red, and b* (quantity of blue-yellow of different DDE. Conclusions. SpectroShade evaluation of the optical properties of the enamel defect enhances clinical understanding of severity and extent of the defect and characterizes the enamel alteration in terms of color discrepancy and surface characterization.

Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: dose effect of the PAX6 gene product?

NARCIS (Netherlands)

Aalfs, C. M.; Fantes, J. A.; Wenniger-Prick, L. J.; Sluijter, S.; Hennekam, R. C.; van Heyningen, V.; Hoovers, J. M.

1997-01-01

We report on a girl with a duplication of chromosome band 11p12-->13, which includes the Wilms tumor gene (WT1) and the aniridia gene (PAX6). The girl had borderline developmental delay, mild facial anomalies, and eye abnormalities. Eye findings were also present in most of the 11 other published

Delayed fission

Energy Technology Data Exchange (ETDEWEB)

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)

Dissecting delays in trauma care using corporate lean six sigma methodology.

Science.gov (United States)

Parks, Jennifer K; Klein, Jorie; Frankel, Heidi L; Friese, Randall S; Shafi, Shahid

2008-11-01

The Institute of Medicine has identified trauma center overcrowding as a crisis. We applied corporate Lean Six Sigma methodology to reduce overcrowding by quantifying patient dwell times in trauma resuscitation units (TRU) and to identify opportunities for reducing them. TRU dwell time of all patients treated at a Level I trauma center were measured prospectively during a 3-month period (n = 1,184). Delays were defined as TRU dwell time >6 hours. Using personnel trained in corporate Lean Six Sigma methodology, we created a detailed process map of patient flow through our TRU and measured time spent at each step prospectively during a 24/7 week-long time study (n = 43). Patients with TRU dwell time below the median (3 hours) were compared with those with longer dwell times to identify opportunities for improvement. TRU delays occurred in 183 of 1,184 trauma patients (15%), and peaked on days with >15 patients or with presence of five simultaneous patients. However, 135 delays (74%) occurred on days when Six Sigma mapping identified four processes that were related to TRU delays. Reduction of TRU dwell time by 1 hour per patient using interventions targeting these specific processes has the potential to improve our TRU capacity to care for more patients. Application of corporate Lean Six Sigma methodology identified opportunities for reducing dwell times in our TRU. Such endeavors are vital to maximize operational efficiency and decrease overcrowding in busy trauma centers working at capacity.

Developmental toxicity of prenatal exposure to toluene.

Science.gov (United States)

Bowen, Scott E; Hannigan, John H

2006-01-01

Organic solvents have become ubiquitous in our environment and are essential for industry. Many women of reproductive age are increasingly exposed to solvents such as toluene in occupational settings (ie, long-term, low-concentration exposures) or through inhalant abuse (eg, episodic, binge exposures to high concentrations). The risk for teratogenic outcome is much less with low to moderate occupational solvent exposure compared with the greater potential for adverse pregnancy outcomes, developmental delays, and neurobehavioral problems in children born to women exposed to high concentrations of abused organic solvents such as toluene, 1,1,1-trichloroethane, xylenes, and nitrous oxide. Yet the teratogenic effects of abuse patterns of exposure to toluene and other inhalants remain understudied. We briefly review how animal models can aid substantially in clarifying the developmental risk of exposure to solvents for adverse biobehavioral outcomes following abuse patterns of use and in the absence of associated health problems and co-drug abuse (eg, alcohol). Our studies also begin to establish the importance of dose (concentration) and critical perinatal periods of exposure to specific outcomes. The present results with our clinically relevant animal model of repeated, brief, high-concentration binge prenatal toluene exposure demonstrate the dose-dependent effect of toluene on prenatal development, early postnatal maturation, spontaneous exploration, and amphetamine-induced locomotor activity. The results imply that abuse patterns of toluene exposure may be more deleterious than typical occupational exposure on fetal development and suggest that animal models are effective in studying the mechanisms and risk factors of organic solvent teratogenicity.

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

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Leew Shirley

2008-05-01

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

High incidence of sleep problems in children with developmental disorders: results of a questionnaire survey in a Japanese elementary school.

Science.gov (United States)

Matsuoka, Michiko; Nagamitsu, Shinichiro; Iwasaki, Mizue; Iemura, Akiko; Yamashita, Yushiro; Maeda, Masaharu; Kitani, Shingo; Kakuma, Tatsuyuki; Uchimura, Naohisa; Matsuishi, Toyojiro

2014-01-01

The aim of the present school-based questionnaire was to analyze the sleep problems of children with developmental disorders, such as pervasive developmental disorder and attention deficit hyperactivity disorder. The sleep problems of 43 children with developmental disorders were compared with those of 372 healthy children (control group). All children attended one public elementary school in Kurume, Japan; thus, the study avoided the potential bias associated with hospital-based surveys (i.e. a high prevalence of sleep disturbance) and provided a more complete picture of the children's academic performance and family situation compared with a control group under identical conditions. Children's sleep problems were measured with the Japanese version of the Children's Sleep Habits Questionnaire (CSHQ). Children with developmental disorders had significantly higher total CSHQ scores, as well as mean scores on the parasomnias and sleep breathing subscales, than children in the control group. The total CSHQ score, bedtime resistance, sleep onset delay, and daytime sleepiness worsened with increasing age in children with developmental disorders; in contrast, these parameters were unchanged or became better with age in the control group. In children with developmental disorders, there was a significant association between a higher total CSHQ score and lower academic performance, but no such association was found in the control group. For both groups, children's sleep problems affected their parents' quality of sleep. There were no significant differences in physical, lifestyle, and sleep environmental factors, or in sleep/wake patterns, between the two groups. Children with developmental disorders have poor sleep quality, which may affect academic performance. It is important for physicians to be aware of age-related differences in sleep problems in children with developmental disorders. Further studies are needed to identify the association between sleep quality and

Comparison of Tc-99m ECD brain SPECT between patients with delayed development and cerebral palsy

International Nuclear Information System (INIS)

Cho, I.; Chun, K.; Won, K.; Lee, H.; Jang, S.; Lee, J.

2002-01-01

Purpose: In previous study, thalamic or cerebellar hypoperfusion were reported in patients with cerebral palsy. This study was performed to evaluate cerebral perfusion abnormalities using Tc-99m ECD brain SPECT in patients with delayed motor development. Methods: Nineteen patients (9 boys, 10 girls, mean age 25.5 months) with delayed development underwent brain SPECT after injection of 185∼370 MBq of Tc-99m ECD. The imaging was obtained between 30 minutes and 1hr after injection. The patients were divided clinically as follows, patients with delayed development (n=5) and patients with cerebral palsy (n=14) who has delayed development and abnormal movement. The clinical subtypes of cerebral palsy were spastic quadriplegia (n=5), spastic diplegia (n=6) and spastic hemiplegia (n=3). In each group, decrease of cerebral perfusion was evaluated visually as mild, moderate and severe and quantitation of cerebral perfusion after Lassen's correction was also obtained. Results: SPECT findings showed normal or mildly decreased thalamic perfusion in patients with delayed development and severe decrease of thalamic or cerebellar perfusion in patients with spastic quadriplegia. In patients with spastic diplegia, mild decrease of perfusion was observed in thalamus. In quantified data, thalamic perfusion was lowest in patients with spastic quadriplegia and highest in patients with delayed development, but there were no statistically significant differences. Conclusion: Brain SPECT with Tc-99m ECD has a role in the detection of perfusion abnormalities in patients with delayed development and cerebral palsy

Fuzzy delay model based fault simulator for crosstalk delay fault test ...

Indian Academy of Sciences (India)

In this paper, a fuzzy delay model based crosstalk delay fault simulator is proposed. As design .... To find the quality of non-robust tests, a fuzzy delay ..... Dubois D and Prade H 1989 Processing Fuzzy temporal knowledge. IEEE Transactions ...

Delayed power analysis

International Nuclear Information System (INIS)

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

1999-01-01

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

Quantifiers and working memory

NARCIS (Netherlands)

Szymanik, J.; Zajenkowski, M.

2010-01-01

The paper presents a study examining the role of working memory in quantifier verification. We created situations similar to the span task to compare numerical quantifiers of low and high rank, parity quantifiers and proportional quantifiers. The results enrich and support the data obtained

Quantifiers and working memory

NARCIS (Netherlands)

Szymanik, J.; Zajenkowski, M.

2009-01-01

The paper presents a study examining the role of working memory in quantifier verification. We created situations similar to the span task to compare numerical quantifiers of low and high rank, parity quantifiers and proportional quantifiers. The results enrich and support the data obtained

Genome Transfer Prevents Fragmentation and Restores Developmental Potential of Developmentally Compromised Postovulatory Aged Mouse Oocytes

Directory of Open Access Journals (Sweden)

Mitsutoshi Yamada

2017-03-01

Full Text Available Changes in oocyte quality can have great impact on the developmental potential of early embryos. Here we test whether nuclear genome transfer from a developmentally incompetent to a developmentally competent oocyte can restore developmental potential. Using in vitro oocyte aging as a model system we performed nuclear transfer in mouse oocytes at metaphase II or at the first interphase, and observed that development to the blastocyst stage and to term was as efficient as in control embryos. The increased developmental potential is explained primarily by correction of abnormal cytokinesis at anaphase of meiosis and mitosis, by a reduction in chromosome segregation errors, and by normalization of the localization of chromosome passenger complex components survivin and cyclin B1. These observations demonstrate that developmental decline is primarily due to abnormal function of cytoplasmic factors involved in cytokinesis, while the genome remains developmentally fully competent.

Patient Delay, Diagnosis Delay and Treatment Delay for Breast Cancer: Comparison of the Pattern between Patients in Public and Private Health Sectors

Directory of Open Access Journals (Sweden)

Iraj Harirchi

2015-05-01

Full Text Available Background: The purpose of this study was to compare patient delay, diagnosis delay and treatment delay in breast cancer patients of selected public and private health centers in Tehran, Iran.Methods: In this cross-sectional study, female patients with newly diagnosed breast cancer in a public medical complex and a private breast clinic within one year were included. Patient delay was considered positive, if the interval between the detection of the first symptom by the patient and the first visit to a health care provider took longer than one month. Delay in diagnosis was defined as the period of more than one week between the first medical visit for the symptoms and the diagnosis of breast cancer. Following the confirmed diagnosis of breast malignancy, if the medical treatment was initiated later than one week, treatment delay had occurred. The potential reasons for patient, diagnosis and treatment delay according to the patients’ reports were also recorded.Results: Overall, 385 patients were included of whom 52.7% were recruited from the public hospitals and 47.3% from a private clinic. The prevalence of patient delay, diagnosis delay and treatment delay were 31.7%, 17.9% and 28.3%, respectively. Patient delay was significantly more common among patients with lower socio-economic status and those recruited from the public hospitals. All the patients with diagnosis delay were in the group recruited from the public hospitals.Conclusions: Gaps between women of different socio-economic levels of the society need to be addressed in order to decrease patient, diagnosis and treatment delay.

Developmental Science: Past, Present, and Future

Science.gov (United States)

Lerner, Richard M.

2012-01-01

The goal of developmental science is to describe, explain, and optimize intraindividual changes in adaptive developmental regulations and, as well, interindividual differences in such relations, across life. The history of developmental science is reviewed and its current foci, which are framed by relational developmental systems models that…

Speech and Language Delay

Science.gov (United States)

... 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 ...

Access to services, quality of care, and family impact for children with autism, other developmental disabilities, and other mental health conditions.

Science.gov (United States)

Vohra, Rini; Madhavan, Suresh; Sambamoorthi, Usha; St Peter, Claire

2014-10-01

This cross-sectional study examined perceived access to services, quality of care, and family impact reported by caregivers of children aged 3-17 years with autism spectrum disorders, as compared to caregivers of children with other developmental disabilities and other mental health conditions. The 2009-2010 National Survey of Children with Special Health Care Needs was utilized to examine the association between child's special needs condition and three outcomes (N = 18,136): access to services (difficulty using services, difficulty getting referrals, lack of source of care, and inadequate insurance coverage), quality of care (lack of care coordination, lack of shared decision making, and no routine screening), and family impact (financial, employment, and time-related burden). Multivariate logistic regressions were performed to compare caregivers of children with autism spectrum disorders to caregivers of children with developmental disabilities (cerebral palsy, Down syndrome, developmental delay, or intellectual disability), mental health conditions (attention deficit hyperactivity disorder, anxiety, behavioral/conduct problems, or depression), or both developmental disabilities and mental health conditions. Caregivers of children with autism spectrum disorders were significantly more likely to report difficulty using services, lack of source of care, inadequate insurance coverage, lack of shared decision making and care coordination, and adverse family impact as compared to caregivers of children with developmental disabilities, mental health conditions, or both. © The Author(s) 2013.

Preliminary Validation of a Parent-Child Relational Framework for Teaching Developmental Assessment to Pediatric Residents.

Science.gov (United States)

Regalado, Michael; Schneiderman, Janet U; Duan, Lei; Ragusa, Gisele

A parent-child relational framework was used as a method to train pediatric residents in basic knowledge and observation skills for the assessment of child development. Components of the training framework and its preliminary validation as an alternative to milestone-based approaches are described. Pediatric residents were trained during a 4-week clinical rotation to use a semistructured interview and observe parent-child behavior during health visits using clinical criteria for historical information and observed behavior that reflect developmental change in the parent-child relationship. Clinical impressions of concern versus no concern for developmental delay were derived from parent-child relational criteria and the physical examination. A chart review yielded 330 preterm infants evaluated using this methodology at 4 and 15 months corrected age who also had standardized developmental testing at 6 and 18 months corrected age. Sensitivities and specificities were computed to examine the validity of the clinical assessment compared with standardized testing. A subset of residents who completed 50 or more assessments during the rotation was timed at the end of 4 weeks. Parent-child behavioral markers elicited from the history and/or observed during the health visit correlated highly with standardized developmental assessment. Sensitivities and specificities were 0.72/0.98 and 0.87/0.96 at 4 to 6 and 15 to 18 months, respectively. Residents completed their assessments parent-child relational framework is a potentially efficient and effective approach to training residents in the clinical knowledge and skills of child development assessment. Copyright © 2016 Academic Pediatric Association. Published by Elsevier Inc. All rights reserved.

An Interpretation of Part of Gilbert Gottlieb's Legacy: Developmental Systems Theory Contra Developmental Behavior Genetics

Science.gov (United States)

Molenaar, Peter C. M.

2015-01-01

The main theme of this paper concerns the persistent critique of Gilbert Gottlieb on developmental behavior genetics and my reactions to this critique, the latter changing from rejection to complete acceptation. Concise characterizations of developmental behavior genetics, developmental systems theory (to which Gottlieb made essential…

Milrinone treatment of bovine oocytes during in vitro maturation benefits production of nuclear transfer embryos by improving enucleation rate and developmental competence.

Science.gov (United States)

Naruse, Kenji; Iga, Kosuke; Shimizu, Manabu; Takenouchi, Naoki; Akagi, Satoshi; Somfai, Tamas; Hirao, Yuji

2012-01-01

In the production of cattle nuclear transfer embryos, the production efficiency is affected by the oocyte developmental competence and successful enucleation rate. This study investigated the effect of treating oocytes with milrinone, a phosphodiesterase inhibitor, on these two characteristics. When cumulus-oocyte complexes (COCs) were cultured for 19 h with 0, 50 or 100 μM of milrinone, the enucleation rate was significantly improved by 100 μM milrinone. However, milrinone treatment during in vitro maturation (IVM) also delayed meiotic progression by at least 2 h, which would affect the examination of enucleation rate and developmental competence of oocytes. Thus, in the second experiment, meiotic resumption was temporarily inhibited with butyrolactone I (BL-I; 100 μM, 18 h) to decrease the delayed maturation caused by milrinone; this enabled a more accurate comparison of the effects of milrinone after oocyte maturation. In nuclear transfer embryo production, oocytes treated with milrinone (100 μM, 20 h) showed a significantly higher rate of enucleation compared with that of control oocytes. This improved enucleation rate was associated with a closer location of the metaphase plate to the first polar body in the treated oocytes compared with that in control oocytes. Furthermore, milrinone improved the frequency of development to the blastocyst stage in the resulting embryos. In conclusion, milrinone supplementation during IVM improved enucleation rates by rendering the metaphase plate in close proximity to the first polar body, and this treatment also improved oocyte developmental competence. These benefits additively improved the yield of cloned embryos that developed to the blastocyst stage.

A Comparison of the Effects of Video Modeling Other and Peer-Implemented Pivotal Response Training to Video Modeling Other on Positive Social Interactions of Young Children with Developmental Disabilities

Science.gov (United States)

Kucskar, Maryssa

2017-01-01

Young children with developmental disabilities (DD) frequently have delays in social play skills. Students with DD may require social skills instruction in order to be successful in playing cooperatively with others. These opportunities to practice social play skills learned from specialized interventions must be available throughout the school…

Synchronization of delayed systems in the presence of delay time modulation

International Nuclear Information System (INIS)

Kye, Won-Ho; Choi, Muhan; Kim, Myung-Woon; Lee, Soo-Young; Rim, Sunghwan; Kim, Chil-Min; Park, Young-Jai

2004-01-01

We investigate synchronization in the presence of delay time modulation for application to communication. We have observed that the robust synchronization is established by a common delay signal and its threshold is presented using Lyapunov exponents analysis. The influence of the delay time modulation in chaotic oscillators is also discussed

Ambulatory EEG NeuroMonitor platform for engagement studies of children with development delays

Science.gov (United States)

Mahajan, Ruhi; Consul-Pacareu, Sergi; Abusaud, Mohammed; Sahadat, Md N.; Morshed, Bashir I.

2013-05-01

Engagement monitoring is crucial in many clinical and therapy applications such as early learning preschool classes for children with developmental delays including autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD), or cerebral palsy; as it is challenging for the instructors to evaluate the individual responses of these children to determine the effectiveness of the teaching strategies due to the diverse and unique need of each child who might have difficulty in verbal or behavioral communication. This paper presents an ambulatory scalp electroencephalogram (EEG) NeuroMonitor platform to study brain engagement activities in natural settings. The developed platform is miniature (size: 2.2" x 0.8" x 0.36", weight: 41.8 gm with 800 mAh Li-ion battery and 3 snap leads) and low-power (active mode: 32 mA low power mode: under 5mA) with 2 channels (Fp1, Fp2) to record prefrontal cortex activities of the subject in natural settings while concealed within a headband. The signals from the electrodes are amplified with a low-power instrumentation amplifier; notch filtered (fc = 60Hz), then band-passed by a 2nd-order Chebyshev-I low-pass filter cascaded with a 2nd-order low-pass (fc = 125Hz). A PSoC ADC (16-bit, 256 sps) samples this filtered signal, and can either transmit it through a Class-2 Bluetooth transceiver to a remote station for real-time analysis or store it in a microSD card for offline processing. This platform is currently being evaluated to capture data in the classroom settings for engagement monitoring of children, aimed to study the effectiveness of various teaching strategies that will allow the development of personalized classroom curriculum for children with developmental delays.

Qualitative methodology in developmental psychology

DEFF Research Database (Denmark)

Demuth, Carolin; Mey, Günter

2015-01-01

Qualitative methodology presently is gaining increasing recognition in developmental psychology. Although the founders of developmental psychology to a large extent already used qualitative procedures, the field was long dominated by a (post) positivistic quantitative paradigm. The increasing 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...

The impact of delayed maternity on foetal growth in Spain: An assessment by population attributable fraction.

Science.gov (United States)

Varea, Carlos; Terán, José Manuel; Bernis, Cristina; Bogin, Barry

2017-09-18

Delayed childbearing is considered a risk factor for maternal-foetal health. As in other higher-income countries, in Spain age at maternity has steadily increased during the last two decades. To quantify the impact of the delay in the age at maternity on small for gestational age (SGA) categories of maternity and parity. Primipara 35-39 years old mothers have the highest PAF p in the three categories of SGA, with the maximum value for SGA maternity is a significant adjusted risk factor for SGA, contributing to the increase of its prevalence. However, results also suggest a limited clinical impact of delayed maternity on foetal growth. Positive changes in maternal profile associated with the shift in maternal age might contribute to explain the limited impact of mothers aged 35 years and older on negative birth outcome in Spain. Copyright © 2017 Australian College of Midwives. Published by Elsevier Ltd. All rights reserved.

A Theoretical Approach to Understanding Population Dynamics with Seasonal Developmental Durations

Science.gov (United States)

Lou, Yijun; Zhao, Xiao-Qiang

2017-04-01

There is a growing body of biological investigations to understand impacts of seasonally changing environmental conditions on population dynamics in various research fields such as single population growth and disease transmission. On the other side, understanding the population dynamics subject to seasonally changing weather conditions plays a fundamental role in predicting the trends of population patterns and disease transmission risks under the scenarios of climate change. With the host-macroparasite interaction as a motivating example, we propose a synthesized approach for investigating the population dynamics subject to seasonal environmental variations from theoretical point of view, where the model development, basic reproduction ratio formulation and computation, and rigorous mathematical analysis are involved. The resultant model with periodic delay presents a novel term related to the rate of change of the developmental duration, bringing new challenges to dynamics analysis. By investigating a periodic semiflow on a suitably chosen phase space, the global dynamics of a threshold type is established: all solutions either go to zero when basic reproduction ratio is less than one, or stabilize at a positive periodic state when the reproduction ratio is greater than one. The synthesized approach developed here is applicable to broader contexts of investigating biological systems with seasonal developmental durations.

Effect of Group Setting on Gross Motor Performance in Children 3-5 Years Old with Motor Delays.

Science.gov (United States)

Fay, Deanne; Wilkinson, Tawna; Wagoner, Michelle; Brooks, Danna; Quinn, Lauren; Turnell, Andrea

2017-02-01

The purpose of this study was to evaluate differences in gross motor performance of children 3-5 years of age with motor delays when assessed individually compared to assessment in a group setting among peers with typical development (TD). Twenty children with motor delays and 42 children with TD were recruited from a preschool program. A within-subject repeated measures design was used; each child with delay was tested both in an individual setting and in a group setting with two to four peers with TD. Testing sessions were completed 4-8 days apart. Ten different motor skills from the Peabody Developmental Motor Scales-2 were administered. Performance of each item was videotaped and scored by a blinded researcher. Overall gross motor performance was significantly different (p < .05) between the two settings, with 14 of 20 children demonstrating better performance in the group setting. In particular, children performed better on locomotion items (p < .05). The higher scores for locomotion in the group setting may be due to the influence of competition, motivation, or modeling. Assessing a child in a group setting is recommended as part of the evaluation process.

Chaos synchronization in time-delayed systems with parameter mismatches and variable delay times

International Nuclear Information System (INIS)

Shahverdiev, E.M.; Nuriev, R.A.; Hashimov, R.H.; Shore, K.A.

2004-06-01

We investigate synchronization between two undirectionally linearly coupled chaotic nonidentical time-delayed systems and show that parameter mismatches are of crucial importance to achieve synchronization. We establish that independent of the relation between the delay time in the coupled systems and the coupling delay time, only retarded synchronization with the coupling delay time is obtained. We show that with parameter mismatch or without it neither complete nor anticipating synchronization occurs. We derive existence and stability conditions for the retarded synchronization manifold. We demonstrate our approach using examples of the Ikeda and Mackey Glass models. Also for the first time we investigate chaos synchronization in time-delayed systems with variable delay time and find both existence and sufficient stability conditions for the retarded synchronization manifold with the coupling-delay lag time. (author)

Attentional networks in developmental dyscalculia

Directory of Open Access Journals (Sweden)

Henik Avishai

2010-01-01

Full Text Available Abstract Background Very little is known about attention deficits in developmental dyscalculia, hence, this study was designed to provide the missing information. We examined attention abilities of participants suffering from developmental dyscalculia using the attention networks test - interactions. This test was designed to examine three different attention networks--executive function, orienting and alerting--and the interactions between them. Methods Fourteen university students that were diagnosed as suffering from developmental dyscalculia--intelligence and reading abilities in the normal range and no indication of attention-deficit hyperactivity disorder--and 14 matched controls were tested using the attention networks test - interactions. All participants were given preliminary tests to measure mathematical abilities, reading, attention and intelligence. Results The results revealed deficits in the alerting network--a larger alerting effect--and in the executive function networks--a larger congruity effect in developmental dyscalculia participants. The interaction between the alerting and executive function networks was also modulated by group. In addition, developmental dyscalculia participants were slower to respond in the non-cued conditions. Conclusions These results imply specific attentional deficits in pure developmental dyscalculia. Namely, those with developmental dyscalculia seem to be deficient in the executive function and alertness networks. They suffer from difficulty in recruiting attention, in addition to the deficits in numerical processing.

Attentional networks in developmental dyscalculia.

Science.gov (United States)

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.

Developmental Scaffolding

DEFF Research Database (Denmark)

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...

Psychotherapy with people with developmental disabilities

Directory of Open Access Journals (Sweden)

Barbara Zafošnik

2011-08-01

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

Does Embarrassment Contribute to Delay in Seeking Medical Care for Breast Cancer? A Review

Directory of Open Access Journals (Sweden)

Mohamadreza Neishaboury

2015-08-01

Full Text Available Background: Embarrassment and shame of visiting a doctor for a breast disease are among psychosocial factors that potentially contribute to delay in seeking medical advice. The purpose of this study is to review the published literature to determine if embarrassment regarding breast examination, diagnosis and treatment is associated with patient delay.Methods: We searched PubMed with the following key terms: patient acceptance of health care (MeSH, breast neoplasms/psychology (MeSH, shame (MeSH, embarrassment, delayed diagnosis, to find relevant literature published before August 2015.Results: The studies that explicitly assessed the association between embarrassment and delay for seeking medical advice for breast cancer were very limited. Among these studies, only 2 were quantitative studies, 4 were based on qualitative research and 4 were reviews. Other studies assessed attitudes in population-based surveys or included patients (females and males suffering from different types of cancer.Conclusions: Women should be educated that diseases of the breast need to be cared for as health issues in other parts of the body. They should be informed that embarrassment in this regard is not related to grace and integrity but can be potentially life-threatening. Further research is necessary to quantify the association of embarrassment or shame with delay in seeking diagnosis and treatment of breast cancer. More research can elucidate the ways that the negative impact of shame/embarrassment can be minimized in different ethnic groups.

Classic conditioning in aged rabbits: delay, trace, and long-delay conditioning.

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Solomon, P R; Groccia-Ellison, M E

1996-06-01

Young (0.5 years) and aged (2+, 3+, and 4+ years) rabbits underwent acquisition of the classically conditioned nictitating membrane response in a delay (500-ms conditioned stimulus [CS], 400-ms interstimulus interval [ISI]), long-delay (1,000-ms CS, 900-ms ISI), or trace (500-ms CS, 400-ms stimulus-free period) paradigm. Collapsing across age groups, there is a general tendency for animals to acquire trace conditioning more slowly than delay conditioning. Collapsing across conditioning paradigms, there is a general tendency for aged animals to acquire more slowly than younger animals. Of greater significance, however, are the age differences in the different conditioning paradigms. In the delay and long-delay paradigms, significant conditioning deficits first appeared in the 4(+)-year-old group. In the trace conditioning paradigm, significant conditioning deficits became apparent in the 2(+)-year-old animals.

Efficient Reverse-Engineering of a Developmental Gene Regulatory Network

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Cicin-Sain, Damjan; Ashyraliyev, Maksat; Jaeger, Johannes

2012-01-01

Understanding the complex regulatory networks underlying development and evolution of multi-cellular organisms is a major problem in biology. Computational models can be used as tools to extract the regulatory structure and dynamics of such networks from gene expression data. This approach is called reverse engineering. It has been successfully applied to many gene networks in various biological systems. However, to reconstitute the structure and non-linear dynamics of a developmental gene network in its spatial context remains a considerable challenge. Here, we address this challenge using a case study: the gap gene network involved in segment determination during early development of Drosophila melanogaster. A major problem for reverse-engineering pattern-forming networks is the significant amount of time and effort required to acquire and quantify spatial gene expression data. We have developed a simplified data processing pipeline that considerably increases the throughput of the method, but results in data of reduced accuracy compared to those previously used for gap gene network inference. We demonstrate that we can infer the correct network structure using our reduced data set, and investigate minimal data requirements for successful reverse engineering. Our results show that timing and position of expression domain boundaries are the crucial features for determining regulatory network structure from data, while it is less important to precisely measure expression levels. Based on this, we define minimal data requirements for gap gene network inference. Our results demonstrate the feasibility of reverse-engineering with much reduced experimental effort. This enables more widespread use of the method in different developmental contexts and organisms. Such systematic application of data-driven models to real-world networks has enormous potential. Only the quantitative investigation of a large number of developmental gene regulatory networks will allow us to

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

NARCIS (Netherlands)

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

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

Early detection of cerebral palsy in high-risk infants: diagnostic value of primitive and developmental reflexes as well as ultrasound

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Setyo Handryastuti

2018-03-01

Full Text Available Background The incidence of cerebral palsy (CP has increased due to better survival of high-risk babies. A simple assessment method is needed for the early detection of CP, which can be performed by general practitioners and pediatricians in daily practice. Objectives To assess motor delay, primitive and developmental reflexes, and cerebral ultrasound abnormalities as simple methods for early detection of CP in high-risk infants. We also aimed to evaluate the ease and consistency of the methods for use in daily practice, as well as determine risk factors associated with CP. Methods A prospective cohort study was done on 150 high-risk babies starting from the age of 4 months up to 12 months. We obtained subjects’ histories of motor ability and assessed primitive reflexes and postural reactions at the ages of 4, 6, 9 and 10 months. The diagnosis of CP was established at 6 and 12 months of age. We also determined Kappa test for inter-rater reliability between pediatric residents and pediatric neurologist. Results In 88.7% of subjects, CP was detected in the first 6 months. At 4 months, positive palmar reflex, head lag, and fisting were predictive of CP at 6 months of age. Motor delay, positive palmar grasp reflex, head lag, fisting, and absent protective extension reflex at 6 months were predictive of CP at 12 months. At 9 to 10 months, motor delays, absent protective extension reflex, and negative parachute reaction were predictive of CP at 12 months. Cerebral ultrasound abnormalities were predictive of CP at 6 and 12 months of age. Kappa test result was 0.9, indicating the ease and consistency of these methods for daily medical practice. Conclusion Cerebral palsy can be detected as early as the first 6 months of life. Assessment for motor delays, physical examination for asssessing primitive and developmental reflexes, and cerebral ultrasound can be used for this purpose.

Communication-Based Assessment of Developmental Age for Young Children with Developmental Disabilities

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DeVeney, Shari L.; Hoffman, Lesa; Cress, Cynthia J.

2012-01-01

Purpose: In this study, the authors compared a multiple-domain strategy for assessing developmental age of young children with developmental disabilities who were at risk for long-term reliance on augmentative and alternative communication (AAC) with a communication-based strategy composed of receptive language and communication indices that may…

Global synchronization criteria with channel time-delay for chaotic time-delay system

International Nuclear Information System (INIS)

Sun Jitao

2004-01-01

Based on the Lyapunov stabilization theory, matrix measure, and linear matrix inequality (LMIs), this paper studies the chaos synchronization of time-delay system using the unidirectional linear error feedback coupling with time-delay. Some generic conditions of chaos synchronization with time-delay in the transmission channel is established. The chaotic Chua's circuit is used for illustration, where the coupling parameters are determined according to the criteria under which the global chaos synchronization of the time-delay coupled systems is achieved

Bone marrow stromal cells elicit tissue sparing after acute but not delayed transplantation into the contused adult rat thoracic spinal cord.

NARCIS (Netherlands)

Tewarie, R.D.; Hurtado, A.; Ritfeld, G.J.; Rahiem, S.T.; Wendell, D.F.; Barroso, M.M.; Grotenhuis, J.A.; Oudega, M.

2009-01-01

Bone marrow stromal cells (BMSC) transplanted into the contused spinal cord may support repair by improving tissue sparing. We injected allogeneic BMSC into the moderately contused adult rat thoracic spinal cord at 15 min (acute) and at 3, 7, and 21 days (delayed) post-injury and quantified tissue

Hearing assessment in pre-school children with speech delay.

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Psillas, George; Psifidis, Anestis; Antoniadou-Hitoglou, Magda; Kouloulas, Athanasios

2006-09-01

The purpose of this study was to detect any underlying hearing loss among the healthy pre-school children with speech delay. 76 children, aged from 1 to 5 years, underwent a thorough audiological examination consisting of tympanometry, free field testing, otoacoustic emission recordings and auditory brainstem responses (ABRs). If hearing was normal, then they were evaluated by a child neurologist-psychiatrist. According to our findings, the children were classified into 3 groups; those with normal hearing levels (group I, 52 children, 68.4%), sensorineural hearing loss (group II, 22 children, 28.9%) and conductive hearing loss (group III, 2 children, 2.6%). In group I, speech delay was attributed to pervasive developmental disorder (PDD), which represents high-functioning autistic children (37 cases). Other causes were specific language impairment (SLI)-expressive (3 cases), bilingualism (2 cases), and unknown etiology (10 cases). More than half (59%) of the children diagnosed with PDD evidenced significant language impairment limited to more than two words. Children with SLI-expressive and bilingualism used a maximum of two words. In group II, 13 children suffered from profound hearing loss in both ears, 3 from severe, 3 had profound hearing loss in one ear and severe in the other, 2 from moderate, and 1 had moderate in one ear and severe in the other. No child had mild sensorineural hearing loss. The children with profound hearing loss in at least one ear had total language impairment using no word at all (10 cases), or a maximum of two words (6 cases). When hearing loss was moderate to severe, then the speech vocabulary was confined to several words (more than two words-6 cases). Only two children suffering from conductive hearing loss both presented with complete lack of speech. A great number of healthy pre-school children with speech delay were found to have normal hearing. In this case, the otolaryngologist should be aware of the possible underlying clinical

Delayed minocycline but not delayed mild hypothermia protects against embolic stroke

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Noor Raza

2002-04-01

Full Text Available Abstract Background Inflammatory reactions occurring in the brain after ischemia may contribute to secondary damage. In the present study, effects of minocycline, an anti-inflammatory agent, alone or in combination with mild hypothermia on focal embolic cerebral ischemia have been examined. Methods Focal ischemic injury was induced by embolizing a preformed clot into the middle cerebral artery (MCA. Infarction volume was measured at 48 h after the injury. Mortality was also recorded. Results Delayed administration of minocycline alone or delayed minocycline plus delayed mild hypothermia reduced the infarction volume significantly. However, delayed mild hypothermia alone was not protective and delayed mild hypothermia in combination with minocycline did not show any additive effect. Conclusions These results suggest that minocycline is beneficial in focal ischemic brain injury, and the lack of the enhanced neuroprotection may be due to the brief exposure to hypothermia.

Predictive value of developmental testing in the second year for cognitive development at five years of age

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Alastair G Sutcliffe

2010-09-01

Full Text Available There is mixed evidence about the predictive validity of the Griffiths mental developmental scales. This study aimed to assess the predictive value of developmental assessments of children in their second year using the Griffiths mental development scales for neuro-developmental status at five years using the Wechsler preschool and primary scale of intelligence, revised (WPPSI-R. In a longitudinal study 253 children were assessed in their second year of life using the Griffiths scales and again at five years using the WPPSI-R. The scores were compared and the predictability of the WPPSI-R outcome on the basis of Griffiths scores was assessed. The WPPSI-R full scale IQ and the performance IQ at age five could be predicted moderately by the Griffiths general quotient (GQ and by the personal/social scale. The Griffiths GQ was not a significant predictor of verbal IQ at age 5. The Griffiths performance scale predicted subsequent WPPSI-R performance IQ, and marginally the Full Scale IQ. For the early identification of children at risk for language delay, the Griffiths scales may not be suitable. However, a shortened form would be useful to predict overall cognitive development from the second year to school entry, focussing on the personal-social and performance scales.

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

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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.

Delayed puberty in girls

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... 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 ...

Influence of delays on perforation risk in adults with acute appendicitis.

LENUS (Irish Health Repository)

Kearney, D

2012-02-03

PURPOSE: This study analyzed whether prehospital or in-hospital delay was the more significant influence on perforation rates for acute appendicitis and whether any clinical feature designated patients requiring higher surgical priority. METHODS: A retrospective analysis was conducted over one year at a tertiary referral hospital without a dedicated emergency surgical theater. Admission notes, theater logbook, and the Hospital Inpatient Enquiry system were reviewed to identify the characteristics and clinical course of patients aged greater than 16 years who were operated upon for histologically confirmed acute appendicitis. RESULTS: One hundred and fifteen patients were studied. The overall perforation rate was 17 percent. The mean duration of symptoms prior to hospital presentation was 38.1 hours with the mean in-hospital waiting time prior to operation being 23.4 hours. Although body temperature on presentation was significantly greater in patients found to have perforated appendicitis (P < 0.05), only patient heart rate at presentation and overall duration of symptoms, but not in-hospital waiting time, independently predicted perforation by stepwise linear regression modeling. CONCLUSION: In-hospital delay was not an independent predictor of perforation in adults with acute appendicitis although delays may contribute if patients are left to wait unduly. Tachycardia at presentation may be a quantifiable feature of those more likely to have perforation and who should be given higher surgical priority.

Developmental plasticity: Friend or foe?

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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.

Delayed Puberty (For Teens)

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... 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 ...

Entropy Transfer between Residue Pairs and Allostery in Proteins: Quantifying Allosteric Communication in Ubiquitin.

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Aysima Hacisuleyman

2017-01-01

Full Text Available It has recently been proposed by Gunasakaran et al. that allostery may be an intrinsic property of all proteins. Here, we develop a computational method that can determine and quantify allosteric activity in any given protein. Based on Schreiber's transfer entropy formulation, our approach leads to an information transfer landscape for the protein that shows the presence of entropy sinks and sources and explains how pairs of residues communicate with each other using entropy transfer. The model can identify the residues that drive the fluctuations of others. We apply the model to Ubiquitin, whose allosteric activity has not been emphasized until recently, and show that there are indeed systematic pathways of entropy and information transfer between residues that correlate well with the activities of the protein. We use 600 nanosecond molecular dynamics trajectories for Ubiquitin and its complex with human polymerase iota and evaluate entropy transfer between all pairs of residues of Ubiquitin and quantify the binding susceptibility changes upon complex formation. We explain the complex formation propensities of Ubiquitin in terms of entropy transfer. Important residues taking part in allosteric communication in Ubiquitin predicted by our approach are in agreement with results of NMR relaxation dispersion experiments. Finally, we show that time delayed correlation of fluctuations of two interacting residues possesses an intrinsic causality that tells which residue controls the interaction and which one is controlled. Our work shows that time delayed correlations, entropy transfer and causality are the required new concepts for explaining allosteric communication in proteins.

Entropy Transfer between Residue Pairs and Allostery in Proteins: Quantifying Allosteric Communication in Ubiquitin.

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Hacisuleyman, Aysima; Erman, Burak

2017-01-01

It has recently been proposed by Gunasakaran et al. that allostery may be an intrinsic property of all proteins. Here, we develop a computational method that can determine and quantify allosteric activity in any given protein. Based on Schreiber's transfer entropy formulation, our approach leads to an information transfer landscape for the protein that shows the presence of entropy sinks and sources and explains how pairs of residues communicate with each other using entropy transfer. The model can identify the residues that drive the fluctuations of others. We apply the model to Ubiquitin, whose allosteric activity has not been emphasized until recently, and show that there are indeed systematic pathways of entropy and information transfer between residues that correlate well with the activities of the protein. We use 600 nanosecond molecular dynamics trajectories for Ubiquitin and its complex with human polymerase iota and evaluate entropy transfer between all pairs of residues of Ubiquitin and quantify the binding susceptibility changes upon complex formation. We explain the complex formation propensities of Ubiquitin in terms of entropy transfer. Important residues taking part in allosteric communication in Ubiquitin predicted by our approach are in agreement with results of NMR relaxation dispersion experiments. Finally, we show that time delayed correlation of fluctuations of two interacting residues possesses an intrinsic causality that tells which residue controls the interaction and which one is controlled. Our work shows that time delayed correlations, entropy transfer and causality are the required new concepts for explaining allosteric communication in proteins.

Developmental constraints revealed by co-variation within and among molar rows in two murine rodents.

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Renaud, Sabrina; Pantalacci, Sophie; Quéré, Jean-Pierre; Laudet, Vincent; Auffray, Jean-Christophe

2009-01-01

Morphological integration corresponds to interdependency between characters that can arise from several causes. Proximal causes of integration include that different phenotypic features may share common genetic sets and/or interact during their development. Ultimate causes may be the prolonged effect of selection favoring integration of functionally interacting characters, achieved by the molding of these proximal causes. Strong and direct interactions among successive teeth of a molar row are predicted by genetic and developmental evidences. Functional constraints related to occlusion, however, should have selected more strongly for a morphological integration of occluding teeth and a corresponding evolution of the underlying developmental and genetic pathways. To investigate how these predictions match the patterns of phenotypic integration, we studied the co-variation among the six molars of the murine molar row, focusing on two populations of house mice (Mus musculus domesticus) and wood mice (Apodemus sylvaticus). The size and shape of the three upper and lower molars were quantified and compared. Our results evidenced similar patterns in both species, size being more integrated than shape among all the teeth, and both size and shape co-varying strongly between adjacent teeth, but also between occluding teeth. Strong co-variation within each molar row is in agreement with developmental models showing a cascade influence of the first molar on the subsequent molars. In contrast, the strong co-variation between molars of the occluding tooth rows confirms that functional constraints molded patterns of integration and probably the underlying developmental pathways despite the low level of direct developmental interactions occurring among molar rows. These patterns of co-variation are furthermore conserved between the house mouse and the wood mouse that diverged >10 Ma, suggesting that they may constitute long-running constraints to the diversification of the murine

Developmental skills of 36-60-month-old children in Isfahan daycare centers in 2013.

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Ghazavi, Zohreh; Abdeyazdan, Zahra; Shiravi, Elham; Talakob, Sedigheh

2015-01-01

Assessment of developmental skills is one of the most essential components of children's health evaluation. Since several pubertal disorders are caused by parental negligence in diagnosis, prevention, and treatment of childhood problems, failure to make a timely diagnosis of these problems could have adverse effects on the health of children in future. This study was conducted to determine the developmental skills of 36-60-month-old children in Isfahan. In this cross-sectional study, 196 children, aged 36-60 months, were recruited through random cluster sampling. "Ages and Stages" questionnaire was filled for each subject by their parents (father, mother, or both), and the frequency of developmental delay was determined based on cut-off points. The data were analyzed by descriptive statistics using SPSS 20.0. About 52.6% of the children were male. Mean age of the children was 50.71 (SD = 8.16) months. The abnormal findings were in the five domains of communication (1.5%), gross motor (3.1%), fine motor (7.7%), problem solving (7.7%) and personal-social (2%). The results suggest that some of the children had scores below or equal to the cut-off points and needed more evaluation by a professional person. The domains in which the children had problems were fine motor, problem solving, and gross motor. Therefore, health staff should pay more attention to assessment of these domains and parents should be trained to develop their children's skills in these domains.

Developmental malformations of the cerebral cortex

International Nuclear Information System (INIS)

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

2010-01-01

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

Discovery of time-delayed gene regulatory networks based on temporal gene expression profiling

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Guo Zheng

2006-01-01

Full Text Available Abstract Background It is one of the ultimate goals for modern biological research to fully elucidate the intricate interplays and the regulations of the molecular determinants that propel and characterize the progression of versatile life phenomena, to name a few, cell cycling, developmental biology, aging, and the progressive and recurrent pathogenesis of complex diseases. The vast amount of large-scale and genome-wide time-resolved data is becoming increasing available, which provides the golden opportunity to unravel the challenging reverse-engineering problem of time-delayed gene regulatory networks. Results In particular, this methodological paper aims to reconstruct regulatory networks from temporal gene expression data by using delayed correlations between genes, i.e., pairwise overlaps of expression levels shifted in time relative each other. We have thus developed a novel model-free computational toolbox termed TdGRN (Time-delayed Gene Regulatory Network to address the underlying regulations of genes that can span any unit(s of time intervals. This bioinformatics toolbox has provided a unified approach to uncovering time trends of gene regulations through decision analysis of the newly designed time-delayed gene expression matrix. We have applied the proposed method to yeast cell cycling and human HeLa cell cycling and have discovered most of the underlying time-delayed regulations that are supported by multiple lines of experimental evidence and that are remarkably consistent with the current knowledge on phase characteristics for the cell cyclings. Conclusion We established a usable and powerful model-free approach to dissecting high-order dynamic trends of gene-gene interactions. We have carefully validated the proposed algorithm by applying it to two publicly available cell cycling datasets. In addition to uncovering the time trends of gene regulations for cell cycling, this unified approach can also be used to study the complex

Nanosecond pulsed electric field incorporation technique to predict molecular mechanisms of teratogenicity and developmental toxicity of estradiol-17β on medaka embryos.

Science.gov (United States)

Yamaguchi, Akemi; Ishibashi, Hiroshi; Kono, Susumu; Iida, Midori; Uchida, Masaya; Arizono, Koji; Tominaga, Nobuaki

2018-05-01

Herein, we propose using a nanosecond pulsed electric field (nsPEF) technique to assess teratogenicity and embryonic developmental toxicity of estradiol-17β (E 2 ) and predict the molecular mechanisms of teratogenicity and embryonic developmental defects caused by E 2 on medaka (Oryzias latipes). The 5 hour post-fertilization embryos were exposed to co-treatment with 10 μm E 2 and nsPEF for 2 hours and then continuously cultured under non-E 2 and nsPEF conditions until hatching. Results documented that the time to hatching of embryos was significantly delayed in comparison to the control group and that typical abnormal embryo development, such as the delay of blood vessel formation, was observed. For DNA microarray analysis, 6 day post-fertilization embryos that had been continuously cultured under the non-E 2 and nsPEF condition after 2 hour co-treatments were used. DNA microarray analysis identified 542 upregulated genes and one downregulated gene in the 6 day post-fertilization embryos. Furthermore, bioinformatic analyses using differentially expressed genes revealed that E 2 exposure affected various gene ontology terms, such as response to hormone stimulus. The network analysis also documented that the estrogen receptor α in the mitogen-activated protein kinase signaling pathway may be involved in regulating several transcription factors, such as FOX, AKT1 and epidermal growth factor receptor. These results suggest that our nsPEF technique is a powerful tool for assessing teratogenicity and embryonic developmental toxicity of E 2 and predict their molecular mechanisms in medaka embryos. Copyright © 2017 John Wiley & Sons, Ltd.

Phase-coherence transitions and communication in the gamma range between delay-coupled neuronal populations.

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Alessandro Barardi

2014-07-01

Full Text Available Synchronization between neuronal populations plays an important role in information transmission between brain areas. In particular, collective oscillations emerging from the synchronized activity of thousands of neurons can increase the functional connectivity between neural assemblies by coherently coordinating their phases. This synchrony of neuronal activity can take place within a cortical patch or between different cortical regions. While short-range interactions between neurons involve just a few milliseconds, communication through long-range projections between different regions could take up to tens of milliseconds. How these heterogeneous transmission delays affect communication between neuronal populations is not well known. To address this question, we have studied the dynamics of two bidirectionally delayed-coupled neuronal populations using conductance-based spiking models, examining how different synaptic delays give rise to in-phase/anti-phase transitions at particular frequencies within the gamma range, and how this behavior is related to the phase coherence between the two populations at different frequencies. We have used spectral analysis and information theory to quantify the information exchanged between the two networks. For different transmission delays between the two coupled populations, we analyze how the local field potential and multi-unit activity calculated from one population convey information in response to a set of external inputs applied to the other population. The results confirm that zero-lag synchronization maximizes information transmission, although out-of-phase synchronization allows for efficient communication provided the coupling delay, the phase lag between the populations, and the frequency of the oscillations are properly matched.

Social support and delays seeking care after HIV diagnosis, North Carolina, 2000-2006.

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McCoy, Sandra I; Strauss, Ronald P; MacDonald, Pia D M; Leone, Peter A; Eron, Joseph J; Miller, William C

2009-09-01

Many adults in the USA enter primary care late in the course of HIV infection, countering the clinical benefits of timely HIV services and missing opportunities for risk reduction. Our objective was to determine if perceived social support was associated with delay entering care after an HIV diagnosis. Two hundred and sixteen patients receiving primary care at a large, university-based HIV outpatient clinic in North Carolina were included in the study. Dimensions of functional social support (emotional/informational, tangible, affectionate, and positive social interaction) were quantified with a modified Medical Outcomes Study Social Support Scale and included in proportional hazards models to determine their effect on delays seeking care. The median delay between diagnosis and entry to primary care was 5.9 months. Levels of social support were high but only positive social interaction was moderately associated with delayed presentation in adjusted models. The effect of low perceived positive social interaction on the time to initiation of primary care differed by history of alcoholism (no history of alcoholism, hazard ratio (HR): 1.43, 95% confidence interval (CI): 0.88, 2.34; history of alcoholism, HR: 0.71, 95% CI: 0.40, 1.28). Ensuring timely access to HIV care remains a challenge in the southeastern USA. Affectionate, tangible, and emotional/informational social support were not associated with the time from diagnosis to care. The presence of positive social interaction may be an important factor influencing care-seeking behavior after diagnosis.

Reward acts as a signal to control delay-period activity in delayed-response tasks.

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Ichihara-Takeda, Satoe; Takeda, Kazuyoshi; Funahashi, Shintaro

2010-03-31

Prefrontal delay-period activity represents a neural mechanism for the active maintenance of information and needs to be controlled by some signal to appropriately operate working memory. To examine whether reward-delivery acts as this signal, the effects of delay-period activity in response to unexpected reward-delivery were examined by analyzing single-neuron activity recorded in the primate dorsolateral prefrontal cortex. Among neurons that showed delay-period activity, 34% showed inhibition of this activity in response to unexpected reward-delivery. The delay-period activity of these neurons was affected by the expectation of reward-delivery. The strength of the reward signal in controlling the delay-period activity is related to the strength of the effect of reward information on the delay-period activity. These results indicate that reward-delivery acts as a signal to control delay-period activity.

Delay-dependent exponential stability of cellular neural networks with time-varying delays

International Nuclear Information System (INIS)

Zhang Qiang; Wei Xiaopeng; Xu Jin

2005-01-01

The global exponential stability of cellular neural networks (CNNs) with time-varying delays is analyzed. Two new sufficient conditions ensuring global exponential stability for delayed CNNs are obtained. The conditions presented here are related to the size of delay. The stability results improve the earlier publications. Two examples are given to demonstrate the effectiveness of the obtained results

Breath-by-breath analysis of cardiorespiratory interaction for quantifying developmental maturity in premature infants

Science.gov (United States)

Rusin, Craig G.; Hudson, John L.; Lee, Hoshik; Delos, John B.; Guin, Lauren E.; Vergales, Brooke D.; Paget-Brown, Alix; Kattwinkel, John; Lake, Douglas E.; Moorman, J. Randall

2012-01-01

In healthy neonates, connections between the heart and lungs through brain stem chemosensory pathways and the autonomic nervous system result in cardiorespiratory synchronization. This interdependence between cardiac and respiratory dynamics can be difficult to measure because of intermittent signal quality in intensive care settings and variability of heart and breathing rates. We employed a phase-based measure suggested by Schäfer and coworkers (Schäfer C, Rosenblum MG, Kurths J, Abel HH. Nature 392: 239–240, 1998) to obtain a breath-by-breath analysis of cardiorespiratory interaction. This measure of cardiorespiratory interaction does not distinguish between cardiac control of respiration associated with cardioventilatory coupling and respiratory influences on the heart rate associated with respiratory sinus arrhythmia. We calculated, in sliding 4-min windows, the probability density of heartbeats as a function of the concurrent phase of the respiratory cycle. Probability density functions whose Shannon entropy had a interaction. In this way, we analyzed 18 infant-years of data from 1,202 patients in the Neonatal Intensive Care Unit at University of Virginia. We found evidence of interaction in 3.3 patient-years of data (18%). Cardiorespiratory interaction increased several-fold with postnatal development, but, surprisingly, the rate of increase was not affected by gestational age at birth. We find evidence for moderate correspondence between this measure of cardiorespiratory interaction and cardioventilatory coupling and no evidence for respiratory sinus arrhythmia, leading to the need for further investigation of the underlying mechanism. Such continuous measures of physiological interaction may serve to gauge developmental maturity in neonatal intensive care patients and prove useful in decisions about incipient illness and about hospital discharge. PMID:22174403

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

DEFF Research Database (Denmark)

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

2015-01-01

A 10-year-old girl presented with exercise intolerance, learning difficulty, and muscle weakness in a limb girdle distribution. She had delayed achievement of motor milestones and difficulties with social interaction at pre-school age. Muscle biopsy showed no myopathic or dystrophic features...

DEVELOPMENTAL TAXONOMY OF CONDUCT DISORDER

OpenAIRE

Jelena Kostić; Milkica Nešić; Jasminka Marković; Miodrag Stanković

2015-01-01

Conduct disorder is a heterogeneous disorder in terms of etiology, course and prognosis, and currently, there is no singular model that would describe the development of the disorder. The results of empirical research on males confirm this heterogeneity, as they point out to two possible developmental pathways: childhood-onset and adolescentonset type. This paper presents the basic elements of developmental taxonomic theory which argues that there are two different developmental pathways to c...

Assessing delay discounting in mice

OpenAIRE

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...

Modelling delays in pharmacokinetics

International Nuclear Information System (INIS)

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

1990-01-01

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

Comparative Study of Early Childhood High-Function Autism and Developmental Mixed Receptive-Expressive Language Disorder

Directory of Open Access Journals (Sweden)

Pinchen Yang

2004-01-01

Full Text Available Verbal cognitive profile and general social functioning were compared between two groups of children aged 5 to 7 years, one with high-function autism and the other with developmental mixed receptive-expressive language disorders. The two groups, totaling 50 children, were matched for age and non-verbal IQ (mean, 90. Both groups had impaired verbal cognitive profile and social adaptive functioning, with no statistically significant differences between the two groups. The implications of our findings are discussed. Current preschool and early childhood medical-educational intervention programs in Taiwan must design and implement curricula in which children with language delay, whether autistic or not, can develop essential social skills.

The interrelationships between motor, cognitive, and language development in children with and without intellectual and developmental disabilities.

Science.gov (United States)

Houwen, Suzanne; Visser, Linda; van der Putten, Annette; Vlaskamp, Carla

2016-01-01

It is generally agreed that cognitive and language development are dependent on the emergence of motor skills. As the literature on this issue concerning children with developmental disabilities is scarce, we examined the interrelationships between motor, cognitive, and language development in children with intellectual and developmental disabilities (IDD) and compared them to those in children without IDD. In addition, we investigated whether these relationships differ between children with different levels of cognitive delay. Seventy-seven children with IDD (calendar age between 1;0 and 9;10 years; mean developmental age: 1;8 years) and 130 typically developing children (calendar age between 0;3 and 3;6 years; mean developmental age: 1;10 years) were tested with the Dutch Bayley Scales of Infant and Toddler Development, Third Edition, which assesses development across three domains using five subscales: fine motor development, gross motor development (motor), cognition (cognitive), receptive communication, and expressive communication (language). Results showed that correlations between the motor, cognitive, and language domains were strong, namely .61 to .94 in children with IDD and weak to strong, namely .24 to .56 in children without IDD. Furthermore, the correlations showed a tendency to increase with the severity of IDD. It can be concluded that both fine and gross motor development are more strongly associated with cognition, and consequently language, in children with IDD than in children without IDD. The findings of this study emphasize the importance of early interventions that boost both motor and cognitive development, and suggest that such interventions will also enhance language development. Copyright © 2016 Elsevier Ltd. All rights reserved.

Topographic processing in developmental prosopagnosia

DEFF Research Database (Denmark)

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...

[Population-based study of child developmental screening in Mexican PROSPERA beneficiaries younger than 5 years old].

Science.gov (United States)

Rizzoli-Córdoba, Antonio; Martell-Valdez, Liliana; Delgado-Ginebra, Ismael; Villasís-Keever, Miguel Ángel; Reyes-Morales, Hortensia; O'Shea-Cuevas, Gabriel; Aceves-Villagrán, Daniel; Carrasco-Mendoza, Joaquín; Villagrán-Muñoz, Víctor Manuel; Halley-Castillo, Elizabeth; Vargas-López, Guillermo; Muñoz-Hernández, Onofre

Evaluación del Desarrollo Infantil or Child Development Evaluation (CDE) test, a screening tool designed and validated in Mexico, classifies child development as normal (green) or abnormal (developmental lag or yellow and risk of delay or red). Population-based results of child development level with this tool are not known. The objective of this work was to evaluate the developmental level of children aged 1-59 months living in poverty (PROSPERA program beneficiaries) through application of the CDE test. CDE tests were applied by specifically trained and standardized personnel to children rural areas; fine motor skills, language and knowledge were more affected in males. The proportion of children with abnormal results is similar to other population-based studies. The highest rate in older children reinforces the need for an early-based intervention. The different pattern of areas affected between urban and rural areas suggests the need for a differentiated intervention. Copyright © 2015 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

Developmental stages of developmental screening: steps to implementation of a successful program.

Science.gov (United States)

Pinto-Martin, Jennifer A; Dunkle, Margaret; Earls, Marian; Fliedner, Dane; Landes, Cynthia

2005-11-01

Through the use of 2-stage screening strategies, research studies have shown that autism spectrum disorders and other developmental disabilities can now be detected reliably and with greater validity and in children as young as 18 months of age. Screening and diagnostic practices in the medical and educational arena lag far behind clinical research, however, with the average patient age at time of diagnosis being 3 to 6 years.We discuss the challenges of instituting universal developmental screening as part of pediatric care and present 2 models of existing or planned programs of early screening for autism spectrum disorder and developmental disability (1 in a community-based setting and 1 in a pediatric setting), and discuss the pros and cons of the different strategies.

REASONS FOR PATIENT DELAYS & HEALTH SYSTEM DELAYS FOR TUBERCULOSIS IN SOUTH INDIA

Directory of Open Access Journals (Sweden)

Kapil Goel

2011-12-01

Full Text Available Background: Globally, the burden of Tuberculosis is escalating. Early diagnosis and prompt initiation of tuberculosis treatment is essential for an effective tuberculosis control programme. Objectives: To study the self reported reasons for patient and health system (diagnosis & treatment delays in Tuberculosis patients. Methods: A community based cross sectional study was conducted among 98 new sputum positive TB cases aged > 15 years registered under RNTCP from Oct 2006 to June 2007 & receiving treatment under DOTS in Udupi taluk by interviewing them. Results: Total 98 patients were recruited and 68% were males. Out of 17 patients with patient delays, 82% felt that their symptoms were not severe, 71% felt that patient delay was due to lack of awareness and 71% did not take it seriously. Out of 86 patients with health system delays, 82.6% of patients mentioned that doctor has not advised for sputum examination, 76.7% of patients told that they first consulted a private doctor, 21% of them mentioned that doctor was unaware to diagnose TB. Conclusion: Symptoms not severe is the main reason for the patient delay and doctor didn’t advise for sputum examination is the main reason for health system delays.

Spelling Impairments in Italian Dyslexic Children with and without a History of Early Language Delay. Are There Any Differences?

Science.gov (United States)

Angelelli, Paola; Marinelli, Chiara V; Iaia, Marika; Putzolu, Anna; Gasperini, Filippo; Brizzolara, Daniela; Chilosi, Anna M