Study on the Mnemic Functioning of Children With Kabuki Syndrome

Kabuki Syndrome (SK - OMIM 147920 and 300867 ORPHA: 2322) is a rare genetic disease with a prevalence of approximately 1/32 000 and responsible for a malformation syndrome with mild to moderate intellectual impairment. SK is due to mutations in the KMT2D and KDM6A genes. As part of a national PHRC (AOM 07-090, clinicaltrial NCT01314534, The investigators were able to perform psychometric tests type WISC4 and MRI type VBM). Disability in SK is characterized by a heterogeneous cognitive profile with strengths and weaknesses when calculating IQ. Brain MRI reveals small hippocampi compared to controls. These 2 data are partly contradictory because the strengths of the patients with SK are a working memory and a verbal comprehension index high compared to the other indices of the tests WISC-IV.

The objective of the research is to better understand the mnesic function of children with SK.

25 children aged 6 to 16 will be recruited. The diagnosis of SK will have been authenticated by the demonstration of a mutation in the KMT2D or KDM6A gene.

The memory assessments will be conducted in one visit for each child, who will perform a memory assessment with a neuropsychologist, using the CMS scale.