Development and learning
Developmental delay, low muscle tone and speech or learning differences may call for speech therapy, occupational therapy, physical therapy and individualized education.
EVERY FAMILY BELONGS
Understanding Jansen de Vries Syndrome
A genetic diagnosis is a starting point. Care should reflect the person’s strengths, health and individual support needs.
PPM1D and diagnosis
JdVS is a neurodevelopmental condition associated with disease-causing variants in the last two coding exons of the PPM1D gene. These can produce a shortened protein. A clinical genetics team interprets testing and explains what the result means for the individual and family.
Many diagnoses are made with exome sequencing. Most reported variants are new in the affected person, although inherited cases also occur. Genetic counseling can address inheritance and family testing.
Physical health
Reported features include growth differences, feeding challenges, constipation and episodic vomiting. Symptoms vary; medical assessment should respond to the individual rather than assume every feature is present.
Regulation and safety
Families can experience very different levels of regulation difficulty and support need. Document changes in sleep, health, environment and distress, and agree on an individualized support and safety plan with the care team.
After a new diagnosis
- Request a copy of the genetic report and an explanation from the genetics team.
- Write a brief history of health, development, communication and current supports.
- Bring the diagnosis to the school and care team; agree on priorities and communication.
- Connect with other families while protecting personal information.