A clinical approach to developmental delay and intellectual disability
Pradeep Vasudevan1, Mohnish Suri2
1Leicestershire Clinical Genetics Service, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary, Leicester, UK pradeep.vasudevan@uhl-tr.nhs.uk.
Clinical Medicine (London, England)
|December 3, 2017
Summary
Diagnosing global developmental delay and intellectual disability can be challenging due to their complexity. This paper presents a systematic approach to aid in the diagnostic process for these conditions.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Global developmental delay (GDD) and intellectual disability (ID) present significant diagnostic challenges.
- Many cases remain undiagnosed due to phenotypic and genetic heterogeneity.
- A structured diagnostic pathway is crucial for effective patient management.
Purpose of the Study:
- To outline a systematic diagnostic approach for GDD and ID.
- To provide a framework for clinicians managing patients with these conditions.
- To improve diagnostic yield in cases of unexplained developmental delay.
Main Methods:
- Systematic review of diagnostic strategies for GDD and ID.
- Development of a tiered diagnostic algorithm.
- Integration of clinical assessment, genetic testing, and neuroimaging.
Main Results:
- The proposed approach categorizes investigations based on clinical presentation.
- Highlights the importance of early and comprehensive genetic analysis.
- Emphasizes a multidisciplinary approach for complex cases.
Conclusions:
- A systematic approach can enhance diagnostic accuracy for GDD and ID.
- This framework aids in navigating the complexities of heterogeneous conditions.
- Improved diagnosis facilitates targeted interventions and genetic counseling.
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