Neurological Assessment of Developmental Delay
The etiologic or diagnostic yield of the neurologic examination in 60 children referred to a pediatric neurologist for evaluation of global developmental delay was determined at the Montreal Children’s Hospital-McGill University, Quebec, Canada.
J Gordon Millichap
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Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith–Magenis syndrome [PDF]
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay, behavioural problems and circadian rhythm dysregulation. About 90% of SMS cases are due to a 17p11.2 deletion containing retinoic acid induced1 (RAI1) gene,
Altieri, Filomena +12 more
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Magnetic Resonance Imaging (MRI) Evaluation of Developmental Delay in Pediatric Patients [PDF]
Introduction: Developmental delay is defined as significant delay in one or more developmental domains. Magnetic Resonance Imaging (MRI) is the best modality to investigate such patients. Evaluation of a child with developmental delay is important not
Althaf Ali S. +6 more
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Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis. [PDF]
We present the case of an 18-month-old boy with dysmorphic facial features, developmental delay, growth retardation, bilateral clubfeet, thrombocytopenia, and strabismus, whose array CGH analysis revealed concurrent de novo trisomy 10p11.22p15.3 and ...
Dipple, Katrina M +3 more
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Evaluation of Global Developmental Delay
The Quality Standards Subcommittee of the AAN and the Practice Committee of the CNS have issued recommendations for the evaluation of the child with nonprogressive global developmental delay (GDD), based on a review of relevant literature and scheme of ...
J Gordon Millichap
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Homeschooling was one of informal education as an alternative for children with developmental delay who could not follow a formal school system. Homeschooling had a unique method of teaching their students based on their ability so they could explore ...
Ratih Sakti Prastiwi
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Ambient Air Pollution Exposure and Risk of Developmental Delay in Children and Teenagers in Taiwan
(1) Background: Studies on the association between air pollution and developmental delay in children are limited. Therefore, we evaluated the risk of developmental delay in Taiwanese children exposed to air pollution.
Hung-Lin Chen +8 more
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Introduction The number of children with developmental language delay is growing. But the isolated use of speech therapy doesn’t always help to improve the long-term prognosis.
A. Leonova, T. Raeva
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FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei. [PDF]
Mutations in FARS2, the gene encoding the mitochondrial phenylalanine-tRNA synthetase (mtPheRS), have been linked to a range of phenotypes including epileptic encephalopathy, developmental delay, and motor dysfunction.
Au, Margaret G +6 more
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Developmental Delay After Heart Surgery
The developmental and neurologic status of 155 children were evaluated one year after heart surgery for D-transposition of the great arteries, comparing those randomly assigned to circulatory arrest or low-flow cardiopulmonary bypass, at Children’s ...
J Gordon Millichap
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