For Professionals

A starting point for healthcare, education, and support professionals caring for individuals and families affected by Jansen de Vries Syndrome.

Professional Resources

Explore current clinical guidance, teaching support, and materials to share with families after diagnosis.

Clinical Considerations

Review system-based evaluations and treatment considerations for people with JdVS.

PPM1D Related Publication (June 2022)

A publication overview exploring genome sequencing and PPM1D-related findings in pediatric acute-onset neuropsychiatric syndrome.

Dr. Lachman’s iPS Cell Research at Einstein Medical

Information about PPM1D-focused iPS cell research led by a JdVS Medical Advisory Board member.

Guidance from a Teacher

Practical classroom considerations and collaboration ideas for educators supporting a student with JdVS.

JdVS/PPM1D Publications

A collection of foundational Jansen-de Vries syndrome and PPM1D research publications.

De Novo Truncating Mutations in PPM1D

The American Journal of Human Genetics publication describing the intellectual disability syndrome linked to PPM1D variants.

Guidance from a Physical Therapist

Physical-therapy perspectives on flexibility, communication, sensory breaks, functional goals, and coordinated care.

Common Physical Attributes Associated with JdVS

An overview of physical features sometimes associated with JdVS and PPM1D-related syndrome.

Common Medical Issues Associated with JdVS

An overview of medical issues that may occur with JdVS, including gastrointestinal, visual, and sensory concerns.

Learning & JdVS

A resource to help parents and caregivers navigate learning needs and supports in the school environment.

Current JdVS Research

An overview of current Jansen-de Vries syndrome research and opportunities to follow the field as it develops.

Therapies for JdVS

Therapy considerations and collaboration ideas for professionals supporting a person with JdVS.

Information to Provide Families After Diagnosis

A concise set of starting points that physicians and other professionals can share with a family after a JdVS diagnosis.

Jansen de Vries Syndrome: A Guide for Professionals

An all-in-one guide covering JdVS characteristics, communication, learning, behavior, medical and GI considerations, sensory needs, therapies, education, accommodations, and questions to ask families.

Understanding a Student with JdVS

A shareable education sheet covering learning, communication, processing, memory, sensory and social needs, executive functioning, motor skills, fatigue, toileting, feeding, GI concerns, and transitions.

Connect With Us

Contact the foundation about collaboration, resources, or professional questions.