Treatment Guide for Patients and Families
A family roadmap for the early journey.
Jansen de Vries Syndrome (JdVS), also known as PPM1D or IDDGIP.
What this guide is for
Receiving a JdVS diagnosis can be overwhelming for families. This guide is intended to help streamline treatment planning as families encounter specialists, therapists, and schools along the way.
*Disclaimer: This guide reflects family experience and community knowledge. It is not intended to replace advice from doctors or other licensed health professionals.
Recommended Initial Evaluations and Ongoing Supports
This section can help families organize questions, appointments, and next steps after diagnosis.
Genetic
Initial
- Whole Exome Sequencing
- PPM1D-specific genetic testing
Ongoing
- Genetic counseling
Neurological
Initial
- Consult with a neurologist
- Baseline MRI and/or EEG if recommended
- Physical therapy evaluation
- Occupational therapy evaluation
Ongoing
- Physical therapy
- Occupational therapy
- Orthotics or other movement aids as needed
Gastrointestinal
Initial
- Feeding consult to evaluate suck and swallow reflex
Ongoing
- Monitor symptoms such as constipation and cyclic vomiting
- Use outside support resources such as the Cyclic Vomiting Syndrome Association when helpful
Psychological and Educational
Initial
- Developmental evaluation
- Neuropsychological testing if appropriate
Ongoing
- Specialized learning plans such as IEPs and school supports
- Treatment or support for behavioral concerns as needed
Speech and Language
Initial
- Speech and language evaluation
Ongoing
- Speech and language therapy as needed
- Augmentative and alternative communication devices as needed
Ophthalmological
Initial
- Baseline eye exam
Ongoing
- Treatment and vision therapy as needed