Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Sep;67(9):435-446.
doi: 10.3345/cep.2023.01697. Epub 2024 May 29.

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

Abdullah Nasser Aldosari  1 , T Saeed Aldosari  2
Affiliations

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

Abdullah Nasser Aldosari et al. Clin Exp Pediatr. 2024 Sep.

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 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.

Keywords: Child; Genetic testing; Global developmental delay; Intellectual dis-ability; Next-generation sequencing.

PubMed Disclaimer

Conflict of interest statement

Conflicts of interest

No potential conflict of interest relevant to this article was reported.

Similar articles

See all similar articles

References

    1. Diagnostic and Statistical Manual of Mental Disorders (DSM5) [Internet]. Washington, DC; American Psychiatric Association Publishing; [2024 Fe 17]. Available from: - DOI
    1. Khan I, Leventhal BL. Developmental delay. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan- [updated 2023 Jul 17]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK562231/
    1. Nair R, Chen M, Dutt AS, Hagopian L, Singh A, Du M. Significant regional inequalities in the prevalence of intellectual disability and trends from 1990 to 2019: a systematic analysis of GBD 2019. Epidemiol Psychiatr Sci. 2022;31:e91. - PMC - PubMed
    1. Masri AT, Oweis L, Ali M, Hamamy H. Global developmental delay and intellectual disability in the era of genomics: diagnosis and challenges in resource-limited areas. Clin Neurol Neurosurg. 2023;230:107799. - PubMed
    1. Sachdeva P, Sitaraman S, Minocha P, Jain RS, Choudhary A, Jetha K. Etiological profile of children with global developmental delay: a single center study. J Pediatr Neurol. 2018;17:111–7.

LinkOut - more resources