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Cognitive impairment in children with CACNA1A mutations
Veronique Humbertclaude1, Florence Riant2,3, Benjamin Krams4
1Service de Médecine Psychologique Enfants et Adolescents, CHU Saint Eloi, Montpellier, France.
Developmental Medicine and Child Neurology
|May 23, 2019
Summary
Children with CACNA1A mutations often experience cognitive impairment and learning difficulties. These findings suggest that the CACNA1A-associated phenotype should be viewed as a neurodevelopmental disorder.
Area of Science:
- Genetics
- Neurology
- Developmental Pediatrics
Background:
- CACNA1A gene mutations are linked to various episodic neurological syndromes.
- Understanding the full spectrum of these mutations, including cognitive and developmental impacts, is crucial for patient management.
Purpose of the Study:
- To characterize the clinical and radiological features of children with CACNA1A mutations.
- To assess the learning abilities and cognitive status in this pediatric population.
Main Methods:
- Cross-sectional study of 18 children (3-18 years) with pathogenic CACNA1A mutations.
- Data collected included psychomotor development, academic performance, clinical exams, and brain MRI.
- Cognitive assessment utilized age-standardized scales.
Main Results:
- 15 out of 18 patients reported academic difficulties, with 9 in special education.
- Cerebellar atrophy was observed in 5 patients via MRI, correlating with intellectual function impairment.
- Delayed psychomotor development occurred in 9 patients.
Conclusions:
- Cognitive impairment and academic challenges are prevalent in children with CACNA1A mutations and episodic syndromes.
- The CACNA1A-associated phenotype is proposed as a neurodevelopmental disorder.
- Cerebellar vermian atrophy increases the risk for cognitive deficits in these patients.
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