Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
August 19, 2026European Journal of Human GeneticsOpen Access

Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder

View Full Paper
Ask AI
Bookmark
Share

Authors

MKMilou G. P. KennisLHLeenke van HaaftenKHKaren van Hulst

Discussion

Loading...

Member takes

Overview

Prospective cohort study reveals a 36% diagnostic yield via genome sequencing in severe sporadic developmental language disorder, supporting routine trio-based genetic testing.

Key Points

  • To evaluate the diagnostic yield of genome sequencing and identify underlying genetic etiologies in individuals with severe, sporadic developmental language disorder.
  • Conducted a prospective cohort study using trio-based genome sequencing in 25 individuals (aged 3–25 years) with severe developmental language disorder (DLD).
  • Eligible participants had non-verbal IQ ≥ 70, no autism spectrum disorder diagnosis, and no first-degree family history of DLD or neurodevelopmental disorders.
  • Pathogenic or likely pathogenic variants were identified in 9 of 25 individuals, yielding a molecular diagnostic rate of 36%.
  • Identified genetic causes comprised seven autosomal dominant disorders, one autosomal recessive condition, and one sex chromosome aneuploidy; seven variants occurred de novo.
  • All identified variants mapped to genes previously linked to neurodevelopmental disorders, providing clinically actionable insights for counseling and follow-up.

Cite This Study

Kennis et al. (2026) studied this question.

synapsesocial.com/papers/6a8563eb03308d306e2d74c7https://doi.org/10.1038/s41431-026-02214-7
View Full Paper
Ask AI
Bookmark
Share

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1The Role of Genetic Testing in Pediatric Expressive Language Delay: Evidence from the National Brain Gene Registry2026
  2. 2Diagnostic yield of genome sequencing for children with intellectual disability and developmental delay2026
  3. 3Genome Sequencing of Idiopathic Speech Delay2024 · 3 citations
  4. 4Developmental Language Disorder as a Multidimensional Neurodevelopmental Spectrum: Implications for Diagnosis2025
  5. 5Genetic testing and analysis of 1024 children with global developmental delay or intellectual disability: a single-center cohort study2026 · 1 citations