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Cognitive impairment in children with CACNA 1A mutations
Author(s) -
Humbertclaude Veronique,
Riant Florence,
Krams Benjamin,
Zimmermann Valerie,
Nagot Nicolas,
Annequin Daniel,
Echenne Bernard,
TournierLasserve Elisabeth,
Roubertie Agathe
Publication year - 2020
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/dmcn.14261
Subject(s) - psychomotor learning , pediatrics , atrophy , medicine , intellectual disability , cognition , neurological examination , magnetic resonance imaging , psychology , audiology , psychiatry , radiology
Aim To describe the clinico‐radiological phenotype of children with a CACNA 1A mutation and to precisely evaluate their learning ability and cognitive status. Method Children between the ages of 3 and 18 years harboring a pathogenic CACNA 1A mutation associated with episodic ataxia, hemiplegic migraine, benign paroxysmal torticollis, benign paroxysmal vertigo, or benign paroxysmal tonic upgaze, were enrolled in this cross‐sectional study. Data concerning psychomotor development, academic performance, educational management, clinical examination at inclusion, and brain imaging were collected. Cognitive assessment was performed using age‐standardized scales. Results Eighteen patients (nine males, nine females; mean age at inclusion: 11y 7mo [ SD 4y 5mo; range 3y–17y 11mo]) from 14 families were enrolled. Eleven patients displayed the coexistence or consecutive occurrence of more than one type of episodic event. Nine patients exhibited abnormal neurological examination at inclusion. Brain magnetic resonance imaging ( MRI ) showed cerebellar atrophy in five patients. Psychomotor development was delayed in nine patients and academic difficulties were reported by the parents in 15 patients; nine patients were in special education. Impairment of intellectual function was assessed in six of the 12 patients with interpretable Full‐scale IQ scores and was more frequent when cerebellar atrophy was present on MRI . Interpretation Cognitive impairment is commonly associated with CACNA 1A mutations. We suggest that CACNA 1A ‐associated phenotype should be considered a neurodevelopmental disorder. What this paper adds Cognitive disabilities and academic difficulties are common in children with CACNA1A mutations associated with episodic syndromes. Cognitive function ranges from normal to moderate intellectual disorder in wheelchair‐dependent children. Patients with vermian atrophy are at a higher risk of cognitive impairment.