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PPM1D Related Publication (June 2022)

By Rachel Horne | July 26, 2022

Dr. Herbert Lachman, a member of the JdVS Medical Advisory Board is a co-first author of a genetic study in which candidate genes are identified using genome sequencing for a neuroinflammatory condition called Pediatric Acute-Onset Neuropsychiatric Syndrome (PANS). This condition is characterized by the abrupt onset of severe neuropsychiatric symptoms including obsessive-compulsive disorder, tics, anxiety,…

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Dr. Lachman’s iPS Cell Research at Einstein Medical

By Kara Kilroy | February 24, 2021

Dr. Herbert Lachman, a scientist at the Albert Einstein College of Medicine, and a JdVS Medical Advisory Board Member is one of the first researchers to use iPS cells to study neurodevelopmental disorders. He is also one of the first to use a gene editing tool called CRISPR to introduce IDD and autism mutations into…

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Kid on a dirt trail riding his bike

Guidance from a Teacher

By Kara Kilroy | February 24, 2021

Recommendations for Educators Teaching a student with JdVS is truly a once in a lifetime experience. A good team of specialists and educators will be essential when moving forward with academic goals for the student. In the classroom is important to remember that you will see a full range of emotions from a student with…

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Boy in a wheelchair next to a lake

JdVS/PPM1D Publications

By Kara Kilroy | February 10, 2021

  Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families   De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome  

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De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

By Kara Kilroy | February 10, 2021

Featured in the American Journal of Human Genetics.

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Baby in a swimming pool, floating on their back

Guidance from a Physical Therapist

By Kara Kilroy | February 10, 2021

What makes JdVS kids unique? Navigating the unique presentation and combination of underlying complexities is a challenge, as are the moments of unadulterated joy and happiness. Finding and then balancing the line between silliness and engaged learning was the most rewarding part. What strategies have been helpful in working with someone with JdVS? Use of…

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Young child being held by a man

Common Physical Attributes Associated with JdVS

By Kara Kilroy | February 10, 2021

Other names: PPM1D, IDDGIP Small hands and feet Hypoplastic nails Short stature Broad forehead Low-set posteriorly rotated ears Upturned nose Broad mouth with thin upper lip Expressive eyes and high arching eyebrows

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Kid with a concerned smile sitting on rocks

Common Medical Issues Associated with JdVS

By Kara Kilroy | February 10, 2021

Other names: PPM1D, IDDGIP Excess amniotic fluid in utero Hernias Hypotonia  Laryngomalacia Feeding and gastrointestinal issues Gastroesophageal reflux Constipation Periods of unexplained vomiting (sometimes with fever) Visual issues Myopia (nearsightedness) Hypermetropia (farsightedness) Strabismus (crossed eyes) High pain-threshold Sound sensitivity Original Publication on JdVS/PPM1D Variant

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