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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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| Measure | Description | Time Frame |
|---|---|---|
| Study of clinical profiles associated to different monogenic form of NDD | Files analysed retrospectively from January 01, 2015 to March 31, 2020 will be examined] |
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Inclusion criteria:
Exclusion criteria:
- Parent (or legal guardian) who expressed his opposition to participating in the study.
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Patient treated for TND linked to a mutation in one of the genes frequently mutated in this pathology, such as the DYRK1A, KMT2A or other genes
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Amélie PITON, MD | Contact | 33 3 69 55 16 52 | amelie.piton@chru-strasbourg.fr | |
| Saïd CHAYER, PhD, HDR | Contact | 33 3 88 11 66 90 | said.chayer@chru-strasbourg.fr |
| Name | Affiliation | Role |
|---|---|---|
| Amélie PITON, MD | Service de Génétique Moléculaire Hôpitaux Universitaires de Strasbourg | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Service de Génétique Moléculaire Hôpitaux Universitaires de Strasbourg | Recruiting | Strasbourg | 67091 | France |
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| ID | Term |
|---|---|
| D065886 | Neurodevelopmental Disorders |
| D035583 | Rare Diseases |
| D030342 | Genetic Diseases, Inborn |
| D008607 | Intellectual Disability |
| D000067877 | Autism Spectrum Disorder |
| D019954 | Neurobehavioral Manifestations |
| ID | Term |
|---|---|
| D001523 | Mental Disorders |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
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| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D012816 | Signs and Symptoms |
| D002659 | Child Development Disorders, Pervasive |