Assessment of Memory in Children With Kabuki Syndrom

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

Official Title
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Study on the Mnemic Functioning of Children With Kabuki Syndrome

Conditions
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Kabuki Syndrome

Intervention / Treatment
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* Other: No arm intervention


Participation Criteria
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Eligibility Criteria
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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.

Ages Eligible for Study
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Minimum Age: 6 Years
Maximum Age: 16 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Other
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Intervention/Treatment |
| --- |
|Other: No arm intervention|No arm intervention|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| CMS (selective motor control scale) main score | CMS main score | 1 hour | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| CMS (selective motor control scale) indexes | CMS indexes | 1 hour | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Kabuki Syndrome, Intellectual Profile, Memory