Assessment of Memory in Children With Kabuki Syndrom


Mnesic function has not, at present, been evaluated in patients with Kabuki Syndrome. Some data from the neuroimagery suggest an impairment of memory function. The objective of our study is to assess the mnesic function of children with Kabuki Syndrom.

Full Title of Study: “Study on the Mnemic Functioning of Children With Kabuki Syndrome”

Study Type

  • Study Type: Interventional
  • Study Design
    • Allocation: N/A
    • Intervention Model: Single Group Assignment
    • Primary Purpose: Other
    • Masking: None (Open Label)
  • Study Primary Completion Date: September 7, 2018

Detailed Description

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.


  • Other: No arm intervention
    • No arm intervention

Clinical Trial Outcome Measures

Primary Measures

  • CMS (selective motor control scale) main score
    • Time Frame: 1 hour
    • CMS main score

Secondary Measures

  • CMS (selective motor control scale) indexes
    • Time Frame: 1 hour
    • CMS indexes

Participating in This Clinical Trial

Inclusion Criteria

  • Child from 6 to 16 years old – Presents an already established diagnosis of Kabuki syndrome. – Free, informed and written consent signed by the participant's parents, and the investigator (at the latest inclusion day and before any research required by the research). Exclusion Criteria:

  • Be under 6 years old or over 16 years old – Do not master the French language – Not having access to language – Deafness not paired – Blindness.

Gender Eligibility: All

Minimum Age: 6 Years

Maximum Age: 16 Years

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • University Hospital, Montpellier
  • Provider of Information About this Clinical Study
    • Sponsor

Citations Reporting on Results

Lehman N, Mazery AC, Visier A, Baumann C, Lachesnais D, Capri Y, Toutain A, Odent S, Mikaty M, Goizet C, Taupiac E, Jacquemont ML, Sanchez E, Schaefer E, Gatinois V, Faivre L, Minot D, Kayirangwa H, Sang KLQ, Boddaert N, Bayard S, Lacombe D, Moutton S, Touitou I, Rio M, Amiel J, Lyonnet S, Sanlaville D, Picot MC, Genevieve D. Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. Clin Genet. 2017 Sep;92(3):298-305. doi: 10.1111/cge.13010. Epub 2017 May 18.

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