Informations générales (source: ClinicalTrials.gov)
BASES MOLECULAIRES DU DEVELOPPEMENT DU LANGAGE ORAL ET DES TROUBLES SPECIFIQUES ASSOCIES
Interventional
N/A
Institut National de la Santé Et de la Recherche Médicale, France (Voir sur ClinicalTrials)
mars 2025
mars 2028
14 septembre 2025
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.
Etablissements
| Les établissements d'Île-de-France dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
|---|---|---|---|---|---|
| AP-HP - Hôpital Necker-Enfants Malades | Clothilde ORMIERES, DR | Contact (sur clinicalTrials) | |||
| CENTRE HOSPITALIER SUD FRANCILIEN | Christine CONTI, Dr | Contact (sur clinicalTrials) | |||
| Les établissements sans correspondance certaine dans le répertoire FINESS dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
| Raymond Poincaré- Garches - 92380 - Garches - France | Emilie SCHLUMBERGER, Dr | Contact (sur clinicalTrials) | |||
Critères
Tous
Inclusion Criteria:
- 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.
- 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.
- Cognitive impairment with non-verbal intellectual quotient (IQ) below 2 SD assessed
with the Wechsler Preschool and Primary Scale of Intelligence (WPPSI), or the
Wechsler Intelligence Scale for Children (WISC-IV or V) according to the
age-appropriateness, ASD, moderate to severe hearing loss, orofacial structural
abnormalities, known neurological or genetic disorders at the initial assessment.
None of the patients met the diagnostic criteria for CAS according to the ASHA
(American Speech-Language-Hearing Association, 2007. Childhood apraxia of speech
www.asha.org/policy).