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Review
. 2023 Feb 21;10(3):414.
doi: 10.3390/children10030414.

Evaluation of Individuals with Non-Syndromic Global Developmental Delay and Intellectual Disability

Rowim AlMutiri  1   2 , Maisa Malta  1   3 , Michael I Shevell  1   4 , Myriam Srour  1   4
Affiliations
Review

Evaluation of Individuals with Non-Syndromic Global Developmental Delay and Intellectual Disability

Rowim AlMutiri et al. Children (Basel). .

Abstract

Global Developmental Delay (GDD) and Intellectual Disability (ID) are two of the most common presentations encountered by physicians taking care of children. GDD/ID is classified into non-syndromic GDD/ID, where GDD/ID is the sole evident clinical feature, or syndromic GDD/ID, where there are additional clinical features or co-morbidities present. Careful evaluation of children with GDD and ID, starting with detailed history followed by a thorough examination, remain the cornerstone for etiologic diagnosis. However, when initial history and examination fail to identify a probable underlying etiology, further genetic testing is warranted. In recent years, genetic testing has been shown to be the single most important diagnostic modality for clinicians evaluating children with non-syndromic GDD/ID. In this review, we discuss different genetic testing currently available, review common underlying copy-number variants and molecular pathways, explore the recent evidence and recommendations for genetic evaluation and discuss an approach to the diagnosis and management of children with non-syndromic GDD and ID.

Keywords: clinical evaluation; genetic testing; global developmental delay; intellectual disability; non-syndromic intellectual disability.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Representation of common pathways underlying GDD/ID. This figure is not exhaustive and only shows a few examples of molecules involved in synaptic function, epigenetic regulation and protein homeostasis. Adapted from “Tripartite Glutamatergic Synapse”, by BioRender.com (2023). Retrieved from https://app.biorender.com/biorender-templates. Accessed on 10 February 2023.
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Grants and funding

This review received no external funding.

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