Treatment Guide* for Patients and Families
Jansen de Vries Syndrome (JdVS)
Other names: PPM1D, IDDGIP
Hope is on the horizon for JdVS families.
We hope you find these resources useful and continue to check back as we add to this evolving library.
Our Mission
Raising Hope, Together.
Receiving a JdVS diagnosis can be overwhelming for families. This guide is intended to help streamline the process of treatment as families encounter various specialists and doctors along their journey.
*Disclaimer: We are not doctors, we are parents of individuals diagnosed with JdVS. The information provided on this website is to inform and help families cope with the unexpected change in their life due to a JdVS diagnosis. The information contained on this site is not intended to replace information you have received from doctors or other health professionals.
System
Recommended Initial Evaluations and Ongoing Treatment
Genetic
- Initial
- Whole Exome Sequencing
- PPM1D specific genetic testing
- Ongoing
- Genetic Counseling
Neurological
- Initial
- A consult with neurologist recommended
- May recommend an MRI and/or EEG at baseline
- 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/swallow reflex
- Ongoing
- Monitoring of GI symptom presentation such as constipation and cyclic vomiting
- Contact
Cyclic Vomiting Syndrome Associasion for more information and resources
Psychological
- Initial
- Developmental Evaluation and Neuropsychological testing
- Ongoing
- Development of specialized learning plans (IEPs) and academic supports as needed
- Treatment as needed for behavioral concerns
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 possible therapy as needed