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Comprehensive evaluation of the child with global developmental delays or intellectual disability

Clin Exp Pediatr > Accepted Articles
DOI: https://doi.org/10.3345/cep.2023.01697    [Accepted]
Published online May 29, 2024.
Comprehensive evaluation of the child with global developmental delays or intellectual disability
Abdullah Aldosari1  , Tahani Aldosari2 
1King Fahad Hospital, Department of Pediatrics, Neurology Unit, AlBaha , Saudi Arabia
2Prince Sattam bin Abdulaziz University, Department of Special Education , Wadi Aldwaser , Saudi Arabia
Correspondence: 
Abdullah Aldosari, Tel: 0531074490, Email: Dr.anad@outlook.sa
Received: 8 December 2023   • Revised: 9 March 2024   • Accepted: 7 April 2024
Abstract
Global developmental delay (GDD) and intellectual disability (ID) are relatively common neurodevelopmental disorders that significantly impact affected children, their families, and society. The etiology of GDD/ID is notably diverse, encompassing both genetic and acquired factors. Although the precise cause of most GDD/ID cases remains unclear, an estimated half of all cases can be attributed to genetic factors. Thus, a detailed medical history and comprehensive physical examination remain pivotal for guiding diagnostic investigations into the underlying causes of GDD/ID. Advancements in genetic testing have supplanted traditional methods such as karyotyping and fluorescence in situ hybridization with chromosomal microarrays, which are now the primary genetic tests for children with idiopathic GDD/ID. Moreover, the evaluation of Fragile X and Rett syndrome should be an integral component of initial diagnostic assessments. In recent years, whole-exome sequencing and whole-genome sequencing have emerged as important diagnostic tools for evaluating children with GDD/ID and have substantially enhanced the diagnostic yield rates. Gene therapy has emerged as a promising avenue and is poised to become a cornerstone in addressing various genetic developmental and epilepsy disorders. Early intervention facilitated by a proficient multidisciplinary team can markedly enhance the prognosis and outcomes of GDD/ID, particularly when parents or caregivers are actively engaged in the interventional process. This review discusses risk factors and common underlying causes, explores recent evidence and recommendations for genetic evaluation, and offers management strategies for children with GDD/ID.
Key Words: Global developmental delay, Intellectual disability, Genetic testing, Next-generation sequencing, Child


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