Care Team & Educators

Clinical ConsiderationsReview system-based evaluations and treatment considerations for people with JdVS. PPM1D Related Publication (June 2022)A publication overview exploring genome sequencing and PPM1D-related findings in pediatric acute-onset neuropsychiatric syndrome. Dr. Lachman’s iPS Cell Research at Einstein MedicalInformation about PPM1D-focused iPS cell research led by a JdVS Medical Advisory Board member. Guidance from a TeacherPractical classroom considerations and collaboration ideas for educators supporting a student with JdVS. JdVS/PPM1D PublicationsA collection of foundational Jansen-de Vries syndrome and PPM1D research publications. De Novo Truncating Mutations in PPM1DThe American Journal of Human Genetics publication describing the intellectual disability syndrome linked to PPM1D variants. Guidance from a Physical TherapistPhysical-therapy perspectives on flexibility, communication, sensory breaks, functional goals, and coordinated care. Common Physical Attributes Associated with JdVSAn overview of physical features sometimes associated with JdVS and PPM1D-related syndrome. Common Medical Issues Associated with JdVSAn overview of medical issues that may occur with JdVS, including gastrointestinal, visual, and sensory concerns. Learning & JdVSA resource to help parents and caregivers navigate learning needs and supports in the school environment. Current JdVS ResearchAn overview of current Jansen-de Vries syndrome research and opportunities to follow the field as it develops. Therapies for JdVSTherapy considerations and collaboration ideas for professionals supporting a person with JdVS. Information to Provide Families After DiagnosisA concise set of starting points that physicians and other professionals can share with a family after a JdVS diagnosis. Jansen de Vries Syndrome: A Guide for ProfessionalsAn all-in-one guide covering JdVS characteristics, communication, learning, behavior, medical and GI considerations, sensory needs, therapies, education, accommodations, and questions to ask families. Understanding a Student with JdVSA shareable education sheet covering learning, communication, processing, memory, sensory and social needs, executive functioning, motor skills, fatigue, toileting, feeding, GI concerns, and transitions. Connect With UsContact the foundation about collaboration, resources, or professional questions.