There is no one treatment specifically for 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.
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How is Phelan-McDermid syndrome treated?
There is no one treatment specifically for 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.
Is Phelan-McDermid a terminal?
General Discussion. Phelan-McDermid syndrome (PMS) is a rare genetic condition caused by a deletion or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing (pathogenic) variant of the SHANK3 gene.
Is Phelan-McDermid syndrome progressive?
Only about 600 people worldwide are diagnosed with Phelan-McDermid syndrome. A few studies have suggested that the disorder’s features may change with age and may include a progressive loss of skills.
Is Phelan-McDermid syndrome autism?
About 84 percent of people with Phelan-McDermid syndrome have autism2. The syndrome can also include developmental delay and unusual physical features.
What does Phelan-McDermid syndrome do?
Phelan-McDermid syndrome (PMS) is a rare genetic condition that causes developmental and speech delays, behavioral problems and a weakened or no ability to feel pain or sweat. Phelan-McDermid syndrome is a congenital condition (condition that is present at birth) that can affect people of all genders.
How many people in the world have Phelan-McDermid?
As of 2017, more than 1,500 individuals had registered with the Phelan-McDermid Syndrome Foundation (PMSF) in Venice, Florida, however, this does not account for the worldwide incidences of PMS, as not all families enter the registry. PMS is likely to affect both males and females equally.
How do you test for Phelan-McDermid syndrome?
Genetic testing may be performed by a variety of methods. The most common testing method is chromosomal microarray analysis (CMA). 1 This test should be recommended for children with autism, as well as children that have a high clinical suspicion of Phelan-McDermid syndrome or other genetic disorders.
How is Phelan-McDermid syndrome diagnosed?
No clinical diagnostic criteria have been established for Phelan-McDermid syndrome. The diagnosis is based on laboratory testing to establish a deletion of 22q13 or a pathogenic variant in SHANK3.
Can Phelan-McDermid be diagnosed before birth?
Generally, Phelan-McDermid syndrome will not be diagnosed prenatally. Testing usually is initiated as a result of trying to identify the cause of hypotonia or global developmental delay. Genetic testing may be performed by a variety of methods.
How common is Phelan-McDermid syndrome?
How Rare Is It? It is estimated that 1% of people with autism have Phelan-McDermid syndrome (PMS). That means that between 1/8,000-15,000 (including 22q13. 3 deletions and SHANK3 gene variants) have PMS.
Why is it called Phelan-McDermid syndrome?
In 1988, a group of doctors highlighted a case they had seen where a patient was missing a part of the long arm of chromosome 22 at the Society of Human Genetics meeting. In 2002, a group of parents suggested that the official name of the syndrome should be called Phelan-McDermid Syndrome, after Dr.
However, symptoms can be improved through physical and occupational therapy, speech therapy and vision therapy. Of most individuals with Phelan- McDermid Syndrome 100% have development delay and almost 100% have absent or delayed speech.
How is hypotonia treated in children with Phelan-McDermid syndrome?
As hypotonia is one of the most common symptoms related to Phelan-McDermid syndrome, working with physical therapy and occupational therapy are critical in your child’s early years. They will work on any mobility needs, which are considered gross motor skills.
Does Phelan-McDermid syndrome cause speech delay?
Of most individuals with Phelan- McDermid Syndrome 100% have development delay and almost 100% have absent or delayed speech. There are delays in all areas with the most notable in speech. Physically, undeveloped muscles, hypotonia, & visual perception cause some delays.
What is Phelan-McDermid syndrome (PMS)?
Nicholas R. Metrus, MD, is a board-certified neurologist and neuro-oncologist. He currently serves at the Glasser Brain Tumor Center in Summit, New Jersey. Phelan-McDermid syndrome (PMS) or 22q13 is a rare genetic disorder caused by microdeletion that occurs on the terminal end of the 22nd chromosome.