AAP Genetics Diagnostic Approach to Intellectual Disability or Global Developmental Delay
نویسندگان
چکیده
منابع مشابه
diagnostic eva luation of the child with global developmental delay or intellectual disability
Current Opinion in Neurology 2008, 21:117–122 Purpose of review The review addresses the recent discovery of large-scale copy number variations in the human genome and advances in microarray technology which together have changed the clinical genetic diagnostic approach for children with global developmental delay Recent findings Several publications in the last three years evaluate the diagnos...
متن کاملapproach to mental retardation and global developmental delay
objective mental retardation (mr) or intellectual disability is one of three chronic and disabling neurological disorders of children and adolescents. its prevalence is estimated 1-3% of the population. mr is defined as significant sub-average intellectual functioning and adaptive behavior that become detectable before the age of 18. mr may come into view before 5 years as delay in at least two...
متن کاملOur experience with the aetiological diagnosis of global developmental delay and intellectual disability: 2006-2010.
INTRODUCTION 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. MATERIAL AND METHOD We review our experience with determining aetiological diagnoses...
متن کاملKeypoints in Investigating the Child with Global Developmental Delay and Intellectual Disability
Objective. This paper highlights the main lines of etiological investigation of global developmental delay (GDD), mental retardation (MR) or intellectual disability (ID) and their specifi c order. GDD and MR/ID are chronic entities with onset during the developmental period, affecting personal, social, academic, occupational functions. Elucidating the etiology is important for establishing the ...
متن کاملMolecular Genetics of Intellectual Disability
The goal of this chapter is to review the current knowledge of the genetic causes of intellectual disability, focusing on alterations at the chromosomal and single gene level, with particular mention to the new technological developments, including array technologies and next-generation sequencing, which allowed an enormous increase in yield from genetic studies. The cellular and physiological ...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2014
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-28-10-8