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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
PubMed

Insights

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.
Abstract

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