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Evaluation of Individuals with Non-Syndromic Global Developmental Delay and Intellectual Disability
Rowim AlMutiri1,2, Maisa Malta1,3, Michael I Shevell1,4
1Division of Pediatric Neurology, Department of Pediatrics, McGill University, Montreal, QC H4A 3J1, Canada.
Children (Basel, Switzerland)
|March 29, 2023
Summary
Genetic testing is crucial for diagnosing non-syndromic Global Developmental Delay (GDD) and Intellectual Disability (ID) when initial evaluations are inconclusive. This review covers genetic tests, common causes, and management strategies for GDD/ID.
Area of Science:
- Pediatric Neurology
- Clinical Genetics
- Developmental Biology
Background:
- Global Developmental Delay (GDD) and Intellectual Disability (ID) are common pediatric conditions.
- These conditions are classified as syndromic or non-syndromic.
- Initial diagnosis relies on detailed history and physical examination.
Purpose of the Study:
- To review available genetic testing methods for non-syndromic GDD/ID.
- To discuss common genetic variants, molecular pathways, and diagnostic approaches.
- To provide recommendations for the diagnosis and management of GDD/ID.
Main Methods:
- Literature review of genetic testing modalities.
- Analysis of common copy-number variants and molecular pathways in GDD/ID.
- Synthesis of current evidence and clinical guidelines.
Main Results:
- Genetic testing is the most effective diagnostic tool for non-syndromic GDD/ID.
- Understanding genetic variants and pathways aids in diagnosis.
- Evidence supports specific recommendations for genetic evaluation.
Conclusions:
- Genetic testing is paramount for diagnosing non-syndromic GDD/ID.
- A systematic approach incorporating genetic evaluation is essential.
- This review guides clinicians in diagnosing and managing children with GDD/ID.
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