JdVS can present itself in a variety of ways. As parents, we encourage providers to consider thorough genetic screenings.
*Disclaimer: We are not doctors, we are parents of individuals diagnosed with JdVS. The information provided on this website is to inform and help families cope with the unexpected change in their life due to a JdVS diagnosis. The information contained on this site is not intended to replace information you have received from doctors or other health professionals.
Features of JdVS
Neurodevelopmental delay which may include, feeding difficulties, gross motor delays, fine motor delays, speech delays & cognitive delays
Vision, potential for CVI or other visual impairments such as myopia, hypermetropia & strabismus.
Behavioral concerns, autism, anxiety, attention deficit hyperactivity disorder (ADHD), noise sensitivities, sensory integration concerns, hypersociability
Physical presentations- broad based gait, small hands and feet, short stature, broad mouth with thin upper lip, broad forehead, upturned nose, Hypotonic muscle tone
Recommended Initial Evaluations and Ongoing Treatment
- Whole Exome Sequencing or PPM1D specific genetic testing (Sanger sequencing)
- Genetic Counseling
- Consult with neurologist recommended - may recommend an MRI and/or EEG at baseline
- Physical Therapy evaluation
- Occupational Therapy evaluation
- Physical therapy
- Occupational Therapy
- Developmental Evaluation and Neuropsychological testing
- Development of specialized learning plans (IEP) and academic supports as needed
- Treatment as needed for behavioral concerns
- Speech and Language evaluation
- Speech and Language therapy as needed
- Augmentative and alternative communication devices as needed
- Baseline eye exam
- Treatment as needed