Development & communication
Developmental delay, learning differences, speech delay, uneven skills and difficulty communicating pain, distress or needs.
THE WHOLE STORY. EVERY FAMILY.
Every expression of JdVS deserves to be seen.
Joy and possibility are real. So are medical complexity, severe dysregulation, aggression, safety risks and relentless caregiving. We make room for all of it—and work toward better care for everyone.
UNDERSTAND JdVS
One genetic diagnosis.
Many lived realities.
Jansen de Vries Syndrome is a rare neurodevelopmental condition caused by pathogenic variants in the PPM1D gene. Its effects can reach development, communication, feeding, growth, sensory processing, anxiety, impulse control, behavior and physical health.
People with JdVS are often deeply social, affectionate and engaging. They may also experience complex medical and behavioral needs that place extraordinary demands on the individual and everyone who supports them. Both truths matter.
Learn about PPM1D and diagnosis ↗PPM1DGene associated with JdVS
2017First clinically described
GlobalFamilies connected worldwide
No cure—yetResearch and support are urgent
THE FULL SPECTRUM
Support needs can change everything.
No single profile describes JdVS. Needs can range from periodic support to continuous, high-acuity supervision—and can change with age, health, environment and stress.
Medical & sensory
Feeding challenges, vomiting, constipation, hypotonia, infections, sleep disruption, sensory seeking and hypersensitivity.
Emotional regulation
Anxiety, extreme impulsivity, intolerance of limits, transitions or “no,” control battles and rapid escalation under stress.
Behavior & safety
For some: aggression, elopement, property destruction, dangerous decisions and episodes requiring two trained adults or continuous monitoring.
Severe behavior can be part of the medical picture.
It should not automatically be framed as poor parenting, bad character or willful misconduct. Assessment must consider pain, illness, infection, sensory overload, communication barriers, medication effects and the individual’s neurological profile.
WHEN THE NERVOUS SYSTEM IS OVERLOADED
Look beneath the behavior.
Episodes may appear sudden, but families often recognize patterns. The right response begins by asking what changed—not who is to blame.
Illness or infectionPain or discomfortStressTemperature changeSensory overloadJealousyUnexpected transitionLoss of controlHearing “no”Fatigue or hunger
Triggers vary by individual. Families and clinical teams are essential sources of information.
IN THE MOMENT
De-escalation comes first.
- Lower intensity.Use a calm voice, fewer words and fewer people.
- Create space.Remove demands, noise, spectators and unnecessary physical proximity.
- Avoid power struggles.Do not shame, threaten, argue, crowd or force eye contact.
- Check the body.Consider pain, illness, infection, temperature, hunger and medication.
- Follow the plan.Use the individual’s crisis plan and contact trained caregivers early.
Immediate danger? Prioritize physical safety and seek emergency help. Tell responders that the person has a rare neurodevelopmental condition and requires disability-informed de-escalation.
FOR SCHOOLS, AIDES & FIRST RESPONDERS
The response can determine the outcome.
Untrained confrontation can turn distress into crisis. Disability-informed practice protects the individual, peers, staff and the wider community.
DO
- Assume communication before defiance
- Use the individualized safety plan
- Call caregivers and trained staff early
- Offer space, time and limited choices
- Document triggers and effective supports
- Rule out illness, pain and sensory distress
AVOID
- Crowding, yelling or rapid commands
- Humiliation, sarcasm or public correction
- Turning “compliance” into a power contest
- Unexpected touching or physical restraint
- Treating disability as criminal intent
- Escalating before consulting the plan
Before a crisis: build a shared plan with family, clinical providers, educators, transportation staff, aides and school safety personnel.
Request professional resourcesCommunity meansbelieving families.
THE FAMILY REALITY
Caregiving can be beautiful—and unrelenting.
Some families coordinate therapies and school supports. Others also manage 24/7 monitoring, disrupted sleep, aggressive episodes, sibling safety, emergency calls, staff turnover and repeated battles to have medical complexity recognized.
The Foundation’s role is not to compare hardship. It is to make sure every family can say: “Our reality is understood here.”
Caregiver mental healthSibling supportRespite accessSchool advocacyCrisis planningLong-term care
FIND YOUR PATH
What do you need today?
Resources should meet people where they are—from the first diagnosis to complex care planning and crisis prevention.
01
For families
Diagnosis guidance, connection, lived experience and support that includes high-acuity families.
- Understanding the JdVS spectrum
- Medical and behavioral tracking
- IEP and school advocacy
- Respite and caregiver sustainability
- Sibling safety and support
- Transition and long-term planning
02
For schools
Tools for preventing escalation and supporting access to education safely.
- Student-specific trigger profile
- Proactive regulation supports
- De-escalation and recovery protocol
- Functional behavior assessment
- Staff and transportation training
- Family communication loop
03
For clinicians
Whole-person care that connects medical changes with behavioral presentation.
- PPM1D publications and registry
- Phenotype and symptom tracking
- Pain and infection assessment
- Medication review
- Caregiver observations
- Cross-specialty coordination
04
For first responders
Fast recognition, reduced stimulation and safe, proportionate intervention.
- Ask for the disability safety plan
- Reduce people, noise and commands
- Avoid rapid physical contact
- Use caregiver-informed communication
- Allow processing and recovery time
- Seek medical causes when indicated
RESEARCH WITH PURPOSE
Better understanding.
Better outcomes.
Families need research that captures the full phenotype—not only developmental milestones, but medical triggers, severe behavioral presentations, safety risks, treatment response and caregiver impact.
Explore medical publicationsNatural history
Track how symptoms and support needs evolve across a lifetime.
Genotype & phenotype
Understand why PPM1D variants can produce very different realities.
Behavioral biology
Study dysregulation, triggers, pain expression and treatment response.
Family outcomes
Measure sleep, safety, sibling impact, care burden and access to support.
ONE COMMUNITY. THE WHOLE TRUTH.