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

Global developmental delay
DOI: 10.3345/cep.2023.01697 Publication Date: 2024-05-29T04:25:53Z
ABSTRACT
Global developmental delay (GDD) and intellectual disability (ID) are relatively common neurodevelopmental disorders that significantly impact affected children, their families, society. The etiology of GDD/ID is notably diverse, encompassing both genetic acquired factors. Although the precise cause most cases remains unclear, an estimated half all can be attributed to Thus, a detailed medical history comprehensive physical examination remain pivotal for guiding diagnostic investigations into underlying causes GDD/ID. Advancements in testing have supplanted traditional methods such as karyotyping fluorescence situ hybridization with chromosomal micro arrays, which now primary tests children idiopathic Moreover, evaluation Fragile X Rett syndrome should integral component initial assessments. In recent years, whole-exome sequencing whole-genome sequ-encing emerged important tools evaluating substantially enhanced yield rates. Gene therapy has promising avenue poised become cornerstone addressing various epilepsy disorders. Early intervention facilitated by proficient multidisciplinary team markedly enhance prognosis outcomes GDD/ID, particularly when parents or caregivers actively engaged interventional process. This review discusses risk factors causes, explores evidence recommendations evaluation, offers management strategies
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