Clinical Characterization of Frequent Monogenic Forms of Neurodevelopmental Disorders

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

30 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-05-15

Study Completion Date

2024-05-31

Brief Summary

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The main objective is to constitute a precise and exhaustive collection of clinical data (somatic and neurobehavioral data) of individuals affected by various frequent monogenic forms of neurodevelopmental disorders to better characterize the clinical phenotype of these disorders.

A better knowledge of these manifestations is necessary to improve the management of individuals with these disorders.

The secondary objectives of this research are to inform practitioners, patients and their families about the clinical characteristics of these disorders to better understand their diversity and, finally, to improve their screening and diagnosis. Thus, our study aims at establishing clinical scores, linking genotypes and phenotypes and producing documents for professionals (such as the PNDS (National Diagnostic and Care Protocols))

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Detailed Description

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Conditions

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Neurodevelopmental Disorders

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

RETROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

* Minor patient whose age is ≥ 4 years and ≤18 years
* Major patient with intellectual disability
* Patient treated in a participating center for TND linked to a mutation in one of the genes frequently mutated in this pathology, such as the DYRK1A, KMT2A or other genes;
* Patient having previously been seen in genetic consultation
* Parent (or legal guardian) not having expressed, after information, his opposition to the reuse of his data for the purposes of this research.