About Jansen de Vries Syndrome
Hope begins with understanding. Clearer information helps families, caregivers, and professionals move forward together.
What is JdVS?
First identified in 2017, geneticists discovered pathogenic variants in the PPM1D gene, now known as Jansen de Vries Syndrome (JdVS). It can be described as a nonsense alteration that results in a shortened protein.
This mutation causes a wide range of overlapping clinical features including:
- Developmental delays
- Emotional and behavioral dysregulation
- Autism spectrum disorder
- Short and wide hands/feet/unique facial features
- Growth hormone deficiency
- Feeding/swallowing complications
- Cyclic vomiting syndrome
- A variety of other health issues
It is important to note that not every individual exhibits all of these symptoms.
About JdVS and the PPM1D Gene
The gene implicated in JdVS is located on chromosome 17 at 17q23.2 and has 6 exons. Individuals with JdVS have variants in exon 5 and/or 6 of the PPM1D gene that result in a shortened, or truncated, protein.
Genes can feel intimidating at first, so the foundation also offers a family-friendly Genetics 101 resource to help explain the basics in more approachable language.
Facilitating Success
Therapies and early interventions have been proven to be very helpful in ensuring those diagnosed can be the best version of themselves.
Family members, therapists, and teachers play an extremely important role in recognizing the needs of those with JdVS and learning how to help them succeed. Many families have reported regular neuropsychological evaluations have assisted in recognizing needs.
Therapies and services include, but are not limited to:
- Physical, Occupational, and Speech Therapy
- Feeding Therapy
- Applied Behavioral Analysis Therapy
- Individualized Education and Academic Support Services
- In-Home Behavioral Support
- Respite Care
- Psychiatric Services
- Aquatic Therapy, Equine Therapy, and Other Supportive Services
JdVS presents across a broad spectrum
Individuals with JdVS have been found to be extremely social, loving, and outgoing—in other words, joyous people to be around. Not every individual experiences the same symptoms or level of impairment. Some individuals may also experience severe emotional and behavioral dysregulation, impulsivity, aggression, difficulty tolerating limits or transitions, and significant safety risks requiring close or continuous supervision. Episodes may be intensified by illness or infection, pain, stress, sensory overload, temperature changes, jealousy, unexpected changes, or a perceived loss of control. These behaviors may be manifestations of the underlying neurogenetic and medical condition and should not automatically be interpreted as willful defiance. Families, educators, aides, service providers, and first responders should rely on individualized support plans and trained, calm, non-confrontational de-escalation practices.
Frequently Asked Questions
These are some of the most common questions families ask when they are first learning about JdVS.
What are common signs or symptoms of JdVS?
While every child is different, common early signs can include feeding difficulties, low muscle tone, delayed speech or motor milestones, chronic constipation, episodic vomiting, high pain threshold, sound sensitivity, frequent ear infections, hernias, strong sociability, and sensory-seeking behaviors.
What causes variations in the PPM1D gene?
PPM1D variations usually occur randomly and spontaneously. A small number of cases are inherited from a parent, but most known cases are considered de novo, meaning the change occurred for the first time in that individual.
What is a de novo genetic mutation?
A de novo mutation is a genetic change that appears for the first time in one family member. It can arise in an egg or sperm cell or early in embryonic development.
How are patients diagnosed with JdVS?
Patients are often diagnosed through Whole Exome Sequencing or targeted testing such as Sanger sequencing focused on the PPM1D gene.
What therapies are often helpful?
Families commonly report positive impact from physical therapy, occupational therapy, speech therapy, feeding and sensory therapies, aquatic therapy, equine therapy, and behavior-focused supports when appropriate.
Is there a cure for JdVS?
There is currently no known cure or JdVS-specific medical treatment. Even so, early and consistent interventions can make a meaningful difference, and many individuals continue to make inspiring progress.
What can I do to help the foundation?
You can support the mission by donating, fundraising, volunteering, and helping families connect with the community and registry.