Developmental abnormalities and mental retardation: diagnostic strategy
Meral Topcu1, Dilek Yalnizoğlu
1Child Neurology Section, Department of Pediatrics, Hacettepe University, Ankara, Turkey.
Handbook of Clinical Neurology
|April 30, 2013
Summary
Diagnosing intellectual disability (ID) involves clinical history, physical exams, and genetic testing. Early etiological diagnosis is crucial for treatment, prognosis, and family counseling.
Area of Science:
- Genetics
- Pediatrics
- Neurology
Background:
- Intellectual disability (ID), previously mental retardation (MR), is characterized by an IQ below 70.
- Developmental delay (DD) is the preferred term for young children.
- Accurate etiological diagnosis is fundamental for patient management.
Purpose of the Study:
- To outline the diagnostic approach for intellectual disability.
- To emphasize the importance of genetic testing and clinical evaluation.
- To highlight the benefits of early and accurate diagnosis.
Main Methods:
- Detailed clinical history including three-generation pedigree.
- Thorough physical examination with emphasis on dysmorphology and neurological assessment.
- Prioritization of genetic studies such as karyotyping and Fragile X testing.
Main Results:
- Routine karyotyping is recommended for all degrees of ID.
- Fragile X studies are strongly advised for unexplained ID, particularly with relevant family history or features.
- Inborn errors of metabolism and neuroimaging are considered based on specific indications.
Conclusions:
- Diagnosing the etiology of ID is essential for identifying treatable conditions.
- Accurate diagnosis aids in determining prognosis, facilitating family counseling, and enabling prenatal diagnosis.
- A systematic diagnostic approach combining clinical and genetic evaluations is key.
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