Study on phelan mcdermid syndrome

Although the range and severity of symptoms may vary, PMS is generally thought to be characterized by neonatal hypotonia low muscle tone in the newbornnormal growth, absent to severely delayed speech, moderate to profound developmental delay, and minor dysmorphic features. Because the genetic changes vary, the symptoms of PMS vary too, and can cause a wide range of medical, intellectual, and behavioral challenges. The most common characteristics found in those with PMS are intellectual disability of varying degrees, delayed or absent speech, symptoms of autism spectrum disorder, low muscle tone, motor delays, and epilepsy. There is currently no cure or treatment specifically for PMS, but we know how to manage many of the symptoms and researchers are working diligently to improve our knowledge of PMS and to find drugs and therapies that can help people affected by PMS.

Study on phelan mcdermid syndrome

Study on phelan mcdermid syndrome

Researchers are trying to learn whether patients with SHANK3 changes alone versus those with the chromosome 22 deletion have any differences in symptoms. When SHANK3 is defective or absent, there is a defect in cell-to-cell communication within the brain.

However, recent research has also found that the chromosome 22 deletion does not always involve loss of SHANK3. How is Phelan-McDermid syndrome diagnosed? Your child may have many tests before receiving a diagnosis of Phelan-McDermid syndrome.

The starting point is a careful history and physical examination. Additional studies may include a brain magnetic resonance image MRI. Genetic testing is an important part of the evaluation. Your child may need to have blood drawn for a test called chromosomal microarray, which can detect whether a piece of chromosome 22 is deleted.

Children who have any symptoms associated with Phelan-McDermid syndrome should consider further clinical evaluation and genetic testing.

What are the treatment options for Phelan-McDermid syndrome? There is no one treatment specifically for Phelan-McDermid syndrome.

Study on phelan mcdermid syndrome

Treatment is centered on treating the symptoms and careful screening for any associated disorders. Clinical trials are underway looking for new treatments for this disorder.

Our team of specialists has a deep knowledge of Phelan-McDermid syndrome and can provide specialty care for the many symptoms related to the condition, including autism, developmental delay, attention deficit hyperactivity disorder and other behavioral challenges, insomnia, epilepsy, neuromuscular abnormalities, heart problems, gastrointestinal problems and kidney problems.

Families help build insights on Phelan-McDermid syndrome A long-term observational study, a patient registry and a "big data" project are bringing new knowledge about this rare condition.

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PMSF Research | PMSF | Phelan-McDermid Syndrome Foundation

On behalf of every member of our Boston Children's team, thank you for inspiring us to be bolder, dream bigger, and make the impossible possible for our patients and families.AMO Pharma Limited announces the commencement of patient recruitment for an interventional study of AMO, an investigational Ras-ERK pathway inhibitor for the treatment of Phelan-McDermid.

Background. Phelan-McDermid Syndrome (PMS), or 22q13 Deletion syndrome, caused by a loss of one copy of the SHANK3 gene, is characterized by global developmental delay/intellectual disability, motor skills (movement) deficits, delayed or absent speech, and autism spectrum disorder.

The remaining 25 percent of individuals with Phelan-McDermid Syndrome have deletions that result from other structural translocations or rearrangements (Phelan, ; Bonaglia et al., ). The mode of inheritance for 80 percent of affected individuals is a de novo chromosome deletion (Phelan, ).

What are the symptoms of Phelan-McDermid syndrome?

Phelan‐McDermid syndrome is an uncommon genetic cause of intellectual disability, but should still be tested for. People with Phelan‐McDermid syndrome may also suffer from bipolar disorder, and doctors should consider this diagnosis. Phelan-McDermid syndrome (PMS) or 22q deletion syndrome is characterized by global developmental delay, cognitive deficits, and behaviour in the autism spectrum.

Knowledge about developmental and behavioural characteristics of this rare chromosomal disorder is . Subjects under study must have a diagnosis of Phelan McDermid syndrome (PMS) with genetic confirmation of pathogenic SHANK3 deletion or mutation.

Subjects must be post pubertal males or females aged ≥12 years and ≤45 years at Screening.

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