Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller’s dementia infantilis, a rare subtype of autism spectrum disorder

Abstract : AbstractBackgroundDeletions and mutations involving the SHANK3 gene lead to a nonspecific clinical presentation with moderate to profound intellectual disability, severely delayed or absent speech, and autism spectrum disorders (ASD).Better knowledge of the clinical spectrum of SHANK3 haploinsufficiency is useful to facilitate clinical care monitoring and to guide molecular diagnosis, essential for genetic counselling.Case presentationHere, we report a detailed clinical description of a 10-year-old girl carrying a pathogenic interstitial 22q13.3 deletion encompassing only the first 17 exons of SHANK3.The clinical features displayed by the girl strongly suggested the diagnosis of dementia infantilis, described by Heller in 1908, also known as childhood disintegrative disorder.ConclusionOur present case confirms several observations according to which regression may be part of the clinical phenotype of SHANK3 haploinsufficiency. Therefore, we think it is crucial to look for mutations in the gene SHANK3 in patients diagnosed for childhood disintegrative disorder or any developmental disorder with a regressive pattern involving social and communicative skills as well as cognitive and instinctual functions, with onset around 3 years.
Type de document :
Article dans une revue
BMC Psychiatry, BioMed Central, 2015, 15 (1), pp.256. 〈10.1186/s12888-015-0631-6〉
Liste complète des métadonnées

Littérature citée [31 références]  Voir  Masquer  Télécharger

http://www.hal.inserm.fr/inserm-01264489
Contributeur : Bmc Bmc <>
Soumis le : vendredi 29 janvier 2016 - 12:42:47
Dernière modification le : mercredi 29 août 2018 - 01:10:27
Document(s) archivé(s) le : vendredi 11 novembre 2016 - 20:37:15

Fichier

12888_2015_Article_631.pdf
Publication financée par une institution

Identifiants

Citation

Anne Philippe, Yann Craus, Marlène Rio, Nadia Bahi-Buisson, Nathalie Boddaert, et al.. Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller’s dementia infantilis, a rare subtype of autism spectrum disorder. BMC Psychiatry, BioMed Central, 2015, 15 (1), pp.256. 〈10.1186/s12888-015-0631-6〉. 〈inserm-01264489〉

Partager

Métriques

Consultations de la notice

85

Téléchargements de fichiers

42