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Psychometric and cranial CT study in myotonic dystrophy
Clinical and Experimental Neurology
|January 1, 1984
Summary
Adults with myotonic dystrophy (MD) show lower IQs and altered brain structure compared to controls. Ventricular enlargement in MD patients did not correlate with disease severity or cognitive deficits.
Area of Science:
- Neurology
- Neuroimaging
- Genetics
Background:
- Myotonic dystrophy (MD) is a multisystemic genetic disorder.
- Cognitive impairment is a known manifestation of MD.
- Cranial CT abnormalities have been anecdotally reported in MD.
Purpose of the Study:
- To investigate intellectual impairment in adults with MD.
- To assess cranial CT abnormalities in MD patients.
- To explore the relationship between brain structure and cognitive function in MD.
Main Methods:
- Psychometric evaluation of 22 adults with MD and matched controls.
- Cranial computed tomography (CT) scans analyzed for ventricular size.
- Semiautomated image analysis for ventricular surface area measurement.
Main Results:
- MD subjects exhibited significantly lower verbal and performance IQs than controls.
- Reduced performance IQ was not solely due to motor skill deficits.
- A normal age-related increase in ventricular size was absent in MD patients; 8/22 showed enlarged ventricles.
- Two MD subjects had asymptomatic focal atrophy.
- No correlation found between ventricular size and disease severity, duration, or IQ.
Conclusions:
- Adults with myotonic dystrophy experience significant intellectual deficits, particularly in performance IQ.
- Abnormalities in brain structure, specifically ventricular enlargement, are present in MD.
- Ventricular size in MD does not correlate with disease progression or cognitive performance.