Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
The aim of this retrospective, multicenter study would be to extend the phenotypic spectrum of DeSanto Shinawi Syndrome and improve the knowledge of its evolution. To this end, the investigators would like to issue a call for international collaboration in order to create a series of new genetically diagnosed patients, not yet described in previous publications, and with a larger number of individuals evaluated in a single study. One of the aims would be to establish a set of standardized clinical and paraclinical examinations to be carried out at diagnosis and for follow-up of affected patients. This would enable patients, their families and the caregivers involved to better anticipate future management.
Main objective :
Update clinical and paraclinical knowledge of DeSanto-Shinawi syndrome.
Secondary objectives:
Main inclusion criteria:
Children and adults of any age. Molecular diagnosis of a pathogenic variant involving the WAC gene (SNV, CNV, SV).
Main non-inclusion criteria:
Patients with a molecular diagnosis of another VP (SNV) of a gene responsible for a neurodevelopmental disorder.
Patient having already participated in a DESSH study with published data. No patient data available.
Primary endpoint:
The data collected will enable the investigators to meet the objective, namely to expand clinical and paraclinical knowledge of DeSanto-Shinawi syndrome.
Main secondary endpoints: NA (descriptive study) Statistics: NA (descriptive study)
Not provided
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Serie of patients with a molecular diagnosis of DeSanto-Shinawi Syndrome |
Not provided
| Measure | Description | Time Frame |
|---|---|---|
| Clinical knowledge | Morphologic description with photos (optional) at a specified date (front and side of the face, hands-feet : plant and palm) using HPO terms | Through study completion, an average of 2 years |
| Clinical knowledge | Overall clinical examination and interrogatory at the last medical consultation (neurologic, cardiologic, gastroenterologic, pulmonary, urinary, global development, etc.) : data collected using a redcap form. | Through study completion, an average of 2 years |
| Clinical knowledge | Height, weight and head circumferance at birth and at last visit | Through study completion, an average of 2 years |
| Paraclinical knowledge | Any psychometric scale performed during lifetime : Language delay, Motor delay, ADHD, IQ, ASD | Through study completion, an average of 2 years |
| Paraclinical knowledge | Any exams performed during lifetime : EEG, neuroMRI, abdominal echography, cardiac echography | Through study completion, an average of 2 years |
| Measure | Description | Time Frame |
|---|---|---|
| Recurrence of clinical signs | Inventory the clinical signs of the syndrome described to date and mesure concordance or not | Through study completion, an average of 2 years |
| Standardized examinations |
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
Not provided
Not provided
Patients of any age with a molecular and clinical diagnosis of DeSanto-Shinawi Syndrome.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Lise LACLAUTRE | Contact | 334.73.754.963 | promo_interne_drci@chu-clermontferrand.fr |
| Name | Affiliation | Role |
|---|---|---|
| Florian CHERIK | University Hospital, Clermont-Ferrand | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Clermont-Ferrand University Hospital | Recruiting | Clermont-Ferrand | Auvergne | 63000 | France |
Not provided
| Label | URL |
|---|---|
| Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy; Pasquali et al. | View source |
Not provided
All IPD that underlie results in a publication.
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Using concordance of signs, mesure the clinical and paraclinical necessary at diagnosis
| Through study completion, an average of 2 years |
| Management & Follow-up | Using concordance of signs at different ages, establish appropriate management and follow-up. | Through study completion, an average of 2 years |
| Genotype phenotype correlation | Compare the phenotype of DESSH patients with pathogenic point variation in the WAC gene and those with microdeletion involving the WAC gene | Through study completion, an average of 2 years |