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Developmental milestones and cognitive trajectories in school-aged children with 16p11.2 deletion

Jente Verbesselt1,2,3, Jeroen Breckpot4,5, Inge Zink6,7

  • 1Department of Human Genetics, Catholic University Leuven, Leuven, Belgium. verbesselj@chop.edu.

Journal of Neurodevelopmental Disorders
|June 19, 2025
PubMed

Insights

Children with 16p11.2 deletion syndrome (16p11.2DS) experience developmental delays and declining cognitive function over time. Early diagnosis and tailored interventions are crucial for managing this neurodevelopmental disorder.

Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Pediatrics

Background:

  • 16p11.2 deletion syndrome (16p11.2DS) is a recurrent copy number variation associated with neurodevelopmental disorders like intellectual disability and autism spectrum disorders.
  • Approximately 70% of 16p11.2DS cases occur de novo, highlighting its genetic origin.
  • This study focuses on the developmental milestones, cognitive profiles, and longitudinal cognitive trajectories in children with 16p11.2DS.

Purpose of the Study:

  • To assess developmental milestones (motor, language, continence) in children with 16p11.2DS.
  • To analyze cognitive profiles and longitudinal IQ trajectories in this cohort.
  • To understand the phenotypic variability and cognitive decline associated with 16p11.2DS.

Main Methods:

  • Retrospective analysis of in-person assessments, medical records, and parental interviews for 24 children (5-16 years) with confirmed BP4-BP5 16p11.2DS.
  • Administration of standardized intelligence tests to all participants.
  • Review of longitudinal IQ data for a subgroup (79%) to track cognitive changes over time.

Main Results:

  • Delayed motor, language, and continence milestones were observed in the study cohort.
  • Average IQ was in the borderline range (71), with 46% of children exhibiting borderline to below-average intelligence.
  • Significant cognitive variability was noted, with 55% showing discrepancies between verbal and non-verbal skills, and 58% demonstrating a 'growing into deficit' cognitive trajectory.

Conclusions:

  • Delayed developmental milestones are common in 16p11.2DS carriers.
  • School-aged children with 16p11.2DS exhibit progressive cognitive impairments, underscoring the need for early diagnosis and ongoing monitoring.
  • The study emphasizes the importance of assessing cognitive profiles beyond full-scale IQ and calls for larger studies to explore penetrance and variability.
Abstract

Keywords:
16p11.2 deletion syndromeCognitionCopy number variantsDeep phenotypingDevelopmental trajectoriesEarly development

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