Skip to content

Genetic causes of 'TOS' (developmental language disorder)

Genetic causes of 'TOS' (developmental language disorder) - the GENTOS study

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
NL-OMON
Registry ID
NL-OMON48240
Enrollment
150
Registered
2019-09-25
Start date
2020-10-28
Completion date
Unknown
Last updated
2025-09-15

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Developmental Language Disorder (DLD) speech/language disorder

Interventions

None listed

Sponsors

Radboud Universitair Medisch Centrum
Lead Sponsor

Eligibility

Age
2 Years to 99 Years

Inclusion criteria

Inclusion criteria: - Diagnosis TOS (Developmental Language Disorder) given in the Netherlands - Age at inclusion: 4-18y - IQ>70 on non-verbal test - Indication for education at Cluster 2 school or ambulatory Cluster 2 support - Speech must be affected - A negative first-degree family history for speech and language disorders, speech therapy, autism spectrum disorders and special education

Exclusion criteria

Exclusion criteria: - An autism spectrum disorder diagnosis made by a child psychiatrist or GZ psychologist - Next generation sequencing (including WES) has already been performed, or is being performed at the time of inclusion - One biological parent is not available for genetic testing (or both biological parents are not available)

Design outcomes

Primary

MeasureTime frame
The primary objective of this study is to define the diagnostic yield of whole genome sequencing (WGS) in children with a severe DLD and a negative family history.

Secondary

MeasureTime frame
In addition to the primary study parameter, we aim to identify the genes in which variants are found to (possibly) cause DLD, the corresponding molecular pathways, the type of genetic variation involved. We also aim to identify possible patient subgroups within the cohort with a significantly different diagnostic yield.

Countries

Netherlands

Outcome results

None listed

Source: NL-OMON (via WHO ICTRP)