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 Jansen de Vries Syndrome (JdVS) is located on the 17th chromosome (specific location: 17q23.2) and has 6 exons. Exons are portions of the gene that code for proteins. Individuals with JdVS have variants/miscodings on the 5th and/or 6th exon of the PPM1D gene that result in a shortened (truncated) protein.
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
Individuals with JdVS have been found to be extremely social, loving, and outgoing. In other words, joyous people to be around. However, some individuals may also experience severe emotional and behavioral dysregulation, impulsivity, aggression, and safety risks requiring close continuous supervision. Behaviors may worsen with illness, pain, stress, sensory overload, changes, or loss of control and may reflect the underlying neurogenetic condition rather than willful defiance. Individualized support plans and calm, non-confrontational de-escalation techniques are essential.
Hope Spread Around the World
Currently JdVS has been identified in 26 countries throughout the world.
While extremely new and quite rare, newly diagnosed patients and their families are identified all the time and we look forward to growing our beautiful community!
