Cognitive impairment in children with CACNA 1A mutations - CNRS - Centre national de la recherche scientifique Accéder directement au contenu
Article Dans Une Revue Developmental Medicine and Child Neurology Année : 2020

Cognitive impairment in children with CACNA 1A mutations

Chrystelle Bonnemains
  • Fonction : Auteur
Stéphane Chabrier
  • Fonction : Auteur
Julie Leydet
  • Fonction : Auteur
Laurence Lion‐françois
  • Fonction : Auteur
Marie‐ange Nguyen
  • Fonction : Auteur
Anne Saint Martin
  • Fonction : Auteur
Stéphanie Sanchez
  • Fonction : Auteur
Catherine Sarret
Marie‐aude Spitz
  • Fonction : Auteur
Marc Tardieu
  • Fonction : Auteur
Barbara Tourniaire
  • Fonction : Auteur
Ulrike Walther‐louvier
  • Fonction : Auteur

Résumé

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.
Fichier principal
Vignette du fichier
2019 Humbertclaude et al., Cognitive impairment.pdf (25.9 Mo) Télécharger le fichier
Origine : Fichiers produits par l'(les) auteur(s)

Dates et versions

hal-02139175 , version 1 (02-06-2020)

Identifiants

Citer

Véronique Humbertclaude, Florence Riant, Benjamin Krams, Valérie Zimmermann, Nicolas Nagot, et al.. Cognitive impairment in children with CACNA 1A mutations. Developmental Medicine and Child Neurology, 2020, 62 (3), pp.330-337. ⟨10.1111/dmcn.14261⟩. ⟨hal-02139175⟩
223 Consultations
336 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More