Hyperekplexia in Patients With CTNNB1 Mutation

Study Overview
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Brief Summary
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A few years ago, a new genetic disorder (OMIM # 615075) has been associated with loss-of-function variations in the CTNNB1 gene. The clinical features include a delayed psychomotor development usually leading to severe intellectual disability with or without autistic spectrum disorders, progressive spastic diplegia, and various visual defects. Among over 30 cases described worldwide, 2 were reported with an exaggerated startle response to sudden stimulus corresponding to a very rare neurological phenomenon called hyperekplexia. The investigators also have a 3rd patient carrying a CTNNB1 syndrome associated with hyperekplexia.

Detailed Description
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Hyperekplexia can impair daily life because the affected person will fall unexpectedly and stiffly, causing repeated head- or body- wounds. It may be treated empirically by various drugs. Hyperekplexia has so far not been associated with CTNNB1 variations. In this study, we aim to describe the prevalence and clinical characteristics of hyperekplexia in CTNNB1 syndrome carriers, in order to improve diagnosis and thus treatment. The investigators will recruit CTNNB1 subjects through health care providers and also by contacting the families through dedicated social media and databases. The families and health care providers will be invited to fill in a questionnaire related to hyperekplexia (clinical, pharmacological, and genetic data).

Official Title
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Hyperekplexia in Patients With Loss-of-function CTNNB1 Mutation

Conditions
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Hyperekplexia, CTNNB1 Gene Mutation

Intervention / Treatment
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* Other: Questionnaire


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patient carrying a CTNNB1 syndrome showing an exaggerated startle response child whose parents have signed a consent form to participate in the study Exclusion Criteria: Absence of molecular diagnosis Refusal to participate
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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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Patient carrying a CTNNB1 syndrome<br>Recruitment of subjects with CTNNB1 syndrome will be done through health care providers, but also by contacting families through social media and specialized databases. | Other: Questionnaire<br>* The families and health care providers will be invited to fill in a questionnaire related to hyperekplexia (clinical, pharmacological, and genetic data).<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Prevalence of hyperekplexia in CTNNB1 subjects | Number of children with hyperekplexia and CTNNB1 syndrome | on the day of filling in the questionnaire | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Clinical features of hyperekplexia | Clinical features (developmental, neurological, and visual disorders) of hyperekplexia in CTNNB1 syndrome | on the day of filling in the questionnaire | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Hyperekplexia, CTNNB1, genetic disorder, psychomotor development, intellectual disability, neurological phenomenon, various visual defects, progressive spastic diplegia