Roadmaps for 16p11.2

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How 16p11.2 May Affect Individuals

There is wide variability in how 16p11.2 presents. No two people are the same—even within the same family.

Possible features may include:

Neurodevelopment & Learning

  • Autism spectrum traits
  • Speech and language differences
  • Learning disabilities
  • Developmental delay
  • ADHD or attention challenges

Behavioral & Mental Health

  • Anxiety or mood differences
  • Behavioral regulation challenges
  • Sensory processing differences

Physical & Medical

  • Differences in growth (underweight or overweight)
  • Motor coordination challenges
  • Seizures (in some individuals)
  • Gastrointestinal or sleep concerns

Some individuals with 16p11.2 experience mild or no noticeable challenges, while others need ongoing supports.

Practical Tools and Guides

To support individuals and families at every stage, the Foundation offers practical resources that translate research and lived experience into clear, actionable guidance—helping families anticipate needs over time and supporting clinicians with evidence‑informed recommendations for care, monitoring, and intervention. Together, these tools foster informed decision‑making, coordinated care, and improved outcomes for those affected by 16p11.2.

Family Roadmap: Navigating Life with 16p11.2

This roadmap is a simple, step‑by‑step guide for families. It is meant to help you understand what to focus on at different stages, what support to seek, and how to plan ahead. Every child is different, but this roadmap offers a helpful path forward.

Clinician Guidelines & Resources

This page is a starting point for clinicians caring for patients with 16p11.2 recurrent deletion. It highlights key takeaways and links you to full, detailed guidance.