Comprehensive evaluation of the child with global developmental delays or intellectual disability
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 preci...
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| Format: | Article |
| Language: | English |
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The Korean Pediatric Society
2024-09-01
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| Series: | Clinical and Experimental Pediatrics |
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| Online Access: | http://www.e-cep.org/upload/pdf/cep-2023-01697.pdf |
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| author | Abdullah Nasser Aldosari T. Saeed Aldosari |
| author_facet | Abdullah Nasser Aldosari T. Saeed Aldosari |
| author_sort | Abdullah Nasser Aldosari |
| collection | DOAJ |
| description | 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 micro arrays, 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 sequ-encing 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. |
| format | Article |
| id | doaj-art-14e29f5293634655b48a3448c5fe9a73 |
| institution | OA Journals |
| issn | 2713-4148 |
| language | English |
| publishDate | 2024-09-01 |
| publisher | The Korean Pediatric Society |
| record_format | Article |
| series | Clinical and Experimental Pediatrics |
| spelling | doaj-art-14e29f5293634655b48a3448c5fe9a732025-08-20T02:17:00ZengThe Korean Pediatric SocietyClinical and Experimental Pediatrics2713-41482024-09-0167943544610.3345/cep.2023.0169720125555698Comprehensive evaluation of the child with global developmental delays or intellectual disabilityAbdullah Nasser Aldosari0T. Saeed Aldosari1 Department of Pediatrics, King Fahad Hospital, Al Baha, Saudi Arabia Department of Special Education, Prince Sattam bin Abdulaziz University, Riyadh, Saudi ArabiaGlobal 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 micro arrays, 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 sequ-encing 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.http://www.e-cep.org/upload/pdf/cep-2023-01697.pdfglobal developmental delayintellectual dis-abilitygenetic testingnext-generation sequencingchild |
| spellingShingle | Abdullah Nasser Aldosari T. Saeed Aldosari Comprehensive evaluation of the child with global developmental delays or intellectual disability Clinical and Experimental Pediatrics global developmental delay intellectual dis-ability genetic testing next-generation sequencing child |
| title | Comprehensive evaluation of the child with global developmental delays or intellectual disability |
| title_full | Comprehensive evaluation of the child with global developmental delays or intellectual disability |
| title_fullStr | Comprehensive evaluation of the child with global developmental delays or intellectual disability |
| title_full_unstemmed | Comprehensive evaluation of the child with global developmental delays or intellectual disability |
| title_short | Comprehensive evaluation of the child with global developmental delays or intellectual disability |
| title_sort | comprehensive evaluation of the child with global developmental delays or intellectual disability |
| topic | global developmental delay intellectual dis-ability genetic testing next-generation sequencing child |
| url | http://www.e-cep.org/upload/pdf/cep-2023-01697.pdf |
| work_keys_str_mv | AT abdullahnasseraldosari comprehensiveevaluationofthechildwithglobaldevelopmentaldelaysorintellectualdisability AT tsaeedaldosari comprehensiveevaluationofthechildwithglobaldevelopmentaldelaysorintellectualdisability |