Is there a cure for Phelan-McDermid syndrome?
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 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. However, given the syndrome’s rarity and relatively recent recognition, the frequency of those changes was unclear.
Is Phelan-McDermid syndrome autism?
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.
How many people are diagnosed with Phelan-McDermid syndrome?
However, the condition can be difficult to detect, so it’s underdiagnosed. It’s been diagnosed in only about 2,200 to 2,500 people worldwide.
Is Phelan-McDermid syndrome a neurological disorder?
Phelan-McDermid syndrome (PMS) is a genetic disorder, caused by haploinsufficiency of the SHANK3 gene on chromosome 22q13.
When was Phelan-McDermid syndrome Discovered?
Phelan McDermid syndrome (PMS) or 22q13. 3 deletion syndrome is a rare neurodevelopmental disorder with over 600 cases documented so far. In 1985 the first case was reported (Watt et al., 1985), but only in 1994 Nesslinger and colleagues proposed that the symptoms described in individuals with 22q13.
How do you get Phelan-McDermid syndrome?
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 Rare?
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. The most common testing method is chromosomal microarray analysis (CMA).
Can Phelan-McDermid be diagnosed before birth?