BASES MOLECULAIRES DU DEVELOPPEMENT DU LANGAGE ORAL ET DES TROUBLES SPECIFIQUES ASSOCIES

Status: Recruiting
Location: See all (3) locations...
Intervention Type: Genetic
Study Type: Interventional
Study Phase: Not Applicable
SUMMARY

Developmental Language Disorder (DLD) refers to children who present with language difficulties that are not due to a known biomedical condition or associated with autism spectrum disorder (ASD) or intellectual disability. The prevalence of DLD is \ 7%-8% or 2% if severe forms are considered. However, the clinical heterogeneity of language disorders, the presence of co-morbidities and the inconsistent terminology used for many years have hindered research and clinical practice. Distinguishing sub-groups of children with language problems is crucial when tackling the underlying genetic causes of this disease. Recently, several studies using high-throughput sequencing have better define the genetic basis of CAS but such studies focusing on DLD are limited. The investigation of more homogeneous cohorts of individuals that clearly distinguish DLD cases, from ID and not including children with CAS should improve our understanding of the genetic basis of this disorder. In this study, we aim to built and investigate a well-characterized cohort of DLD patients using pangenomic approaches to better define the molecular basis of this disorder. All individuals will be analyzed using chromosomal microarray analysis and whole genome sequencing. Multiple observations and preliminary results suggest strong links with the genetic basis of other neurodevelopmental disorders. The goal is to identify CNV or SNV as causative allele or risk factor and already known to be involved in other neurodevelopmental disorders as well as potential new variants.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 5
Healthy Volunteers: f
View:

• Eligible families included at least one child over five years old with a formal diagnosis of severe and isolated DLD according to Phase 2 CATALISE criteria . Patients have undergone age-appropriate speech, language and reading evaluations by a speech-language physician and cognitive evaluations by a neuropsychologist, as well as evaluation by a pediatric neurologist to identify co-occurring developmental disorders (ADHD, ASD…) and a medical geneticist for known genetic disorders and genetic testing recommendations. All children included received appropriate speech therapy for at least one year, with a progress report indicating the persistence of language difficulties.

Locations
Other Locations
France
Hopital Sud Francilien
RECRUITING
Corbeil-essonnes
Raymond Poincaré- Garches
RECRUITING
Garches
Hopital Necker
RECRUITING
Paris
Contact Information
Primary
Vincent Cantagrel, PhD
vincent.cantagrel@inserm.fr
33 142754237
Time Frame
Start Date: 2025-03-25
Estimated Completion Date: 2028-03-25
Participants
Target number of participants: 50
Treatments
Other: DLD patient and relative
Related Therapeutic Areas
Sponsors
Leads: Institut National de la Santé Et de la Recherche Médicale, France
Collaborators: Imagine Institute

This content was sourced from clinicaltrials.gov