Children (Feb 2023)

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

  • Rowim AlMutiri,
  • Maisa Malta,
  • Michael I. Shevell,
  • Myriam Srour

DOI
https://doi.org/10.3390/children10030414
Journal volume & issue
Vol. 10, no. 3
p. 414

Abstract

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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.

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