Developmental milestones and cognitive trajectories in school-aged children with 16p11.2 deletion
Delayed motor, language and continence milestones are common in 16p11.2DS carriers. School-aged children with 16p11.2DS show increasing cognitive impairments over time, pointing to the need for early diagnosis, regular cognitive follow-up and individualised intervention. The high prevalence of disharmonic IQ-profiles highlights the importance of expanding the focus beyond full-scale IQ (FSIQ) outcomes. Future studies in larger cohorts including carrier relatives are needed to gain more insight into the penetrance and phenotypic variability of 16p11.2DS.
Authors
- Jeroen Breckpot (ORCID: https://orcid.org/0000-0002-0734-5154)
- Inge Zink (ORCID: https://orcid.org/0000-0001-7954-1720)
- Jente Verbesselt (ORCID: https://orcid.org/0000-0002-3024-8520)
- Ann Swillen (ORCID: https://orcid.org/0000-0003-4258-4537)
Institutions
- Allen Institute for Brain Science (US)
- Children's Hospital of Philadelphia (US)
- Catholic University of America (US)
- KU Leuven (BE)
Publication Details
- Journal
- Journal of Neurodevelopmental Disorders
- Published
- 2025-06-19
- DOI
- https://doi.org/10.1186/s11689-025-09615-7
- Citations
- 1
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- Belgian American Educational Foundation
- Fonds Wetenschappelijk Onderzoek
- Vlaamse regering
- National Institute of Mental Health