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

Anne Philippe; Yann Craus; Marlène Rio; Nadia Bahi-Buisson; Nathalie Boddaert; Valérie Malan; Jean-Paul Bonnefont; Laurence Robel

doi:10.1186/s12888-015-0631-6

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

Anne Philippe ¹ Yann Craus ² Marlène Rio ¹ Nadia Bahi-Buisson ³ Nathalie Boddaert ⁴ Valérie Malan ⁵ Jean-Paul Bonnefont ⁶ Laurence Robel ^{7, *}

* Auteur correspondant

1 IMAGINE - U1163 - Imagine - Institut des maladies génétiques

2 Psychiatrie de l'enfant et de l'adolescent [CHU Necker]

3 Service de neurologie pédiatrique [CHU Necker]

4 Service de Radiologie et imagerie médicale [CHU Necker]

5 Laboratoire de Cytogénétique

6 Génétique moléculaire

7 SMSP - U1178 - Santé mentale et santé publique

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.

Keywords : Regression ASD Childhood disintegrative disorder (CDD) Heller syndrome SHANK3 22q13.3 deletion syndrome Autism

Type de document :

Article dans une revue

BMC Psychiatry, BioMed Central, 2015, 15 (1), pp.256. 〈10.1186/s12888-015-0631-6〉

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Sciences du Vivant [q-bio]

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

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

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