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Participation and enjoyment of leisure activities in school‐aged children with cerebral palsy
TLDR
Results demonstrated that these children with cerebral palsy were actively involved in a wide range of leisure activities and experienced a high level of enjoyment, however, involvement was lower in skill‐based and active physical activities as well as community‐based activities.
Clinical Genetic Evaluation of the Child With Mental Retardation or Developmental Delays
TLDR
This report addresses the diagnostic importance of clinical history, 3-generation family history, dysmorphologic examination, neurologic examination, chromosome analysis, fragile X molecular genetic testing, fluorescence in situ hybridization studies for subtelomere chromosome rearrangements, molecular Genetic testing for typical and atypical presentations of known syndromes, computed tomography and/or magnetic resonance brain imaging, and targeted studies for metabolic disorders.
Practice parameter: Evaluation of the child with global developmental delay
TLDR
A specific etiology can be determined in the majority of children with global developmental delay and certain routine screening tests are indicated and depending on history and examination findings, additional specific testing may be performed.
Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC)
TLDR
Two distinct phenotypes of methylmalonic acidaemia were identified; they differed in age of onset, presence of systemic symptoms, type of neurological symptoms, and outcome after diagnosis and treatment.
Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays
TLDR
Chromosome microarray is designated as a first-line test and replaces the standard karyotype and fluorescent in situ hybridization subtelomere tests for the child with intellectual disability of unknown etiology and the role of brain MRI remains important in certain patients.
Screening for Developmental Delay in the Setting of a Community Pediatric Clinic: A Prospective Assessment of Parent-Report Questionnaires
TLDR
Two important conclusions were reached: parent-completed questionnaires can be feasibly used in the setting of a pediatric clinic; and the pediatrician's opinion had little effect in ameliorating the accuracy of either questionnaire.
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