Is Phelan-McDermid syndrome autism?

Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder associated with a terminal deletion affecting chromosome 22 (22q13) that results in the loss of function of the SHANK3 gene. SHANK3 has also been identified in gene-linkage studies to be associated with autism spectrum disorder (ASD).

What is 22q13 deletion syndrome?

22q13 deletion syndrome, also known as Phelan–McDermid syndrome (PMS), is a neurodevelopmental disorder characterized by hypotonia, global developmental delay with intellectual disability of varying degrees, severely delayed or absent speech and minor dysmorphia.

How many people in the world have Phelan-McDermid syndrome?

There have since been over 500 identified cases worldwide. The deletion occurs in equal frequency in males and females. It is now often referred to as Phelan-McDermid syndrome, named after the people who first described and characterised the disorder: Drs Katy Phelan and Heather McDermid.

Who discovered Phelan-McDermid syndrome?

In 1992, Katy Phelan and Heather McDermid published a case study of a boy with developmental delays who carries a deletion on chromosomal region 22q131.

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 a neurological disorder?

Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by varying degrees of intellectual disability, severely delayed language development and specific facial features, and is caused by a deletion within chromosome 22q13. 3.

How is 22q13 3 deletion syndrome detected?

Diagnostic methods. Chromosome analysis at or above the 550-band level will detect most deletions of 22q13 although other, more precise methods are recommended to confirm the deletion. FISH is often used to confirm the presence of the deletion and to rule out the presence of a cryptic translocation.

Is Phelan-McDermid Syndrome a neurological disorder?

Is PMS genetic?

The genetic changes that cause PMS vary from person to person and can occur randomly (de novo) or be inherited from a parent (20%) who carries a related genetic change. Because the genetic changes vary, the symptoms of PMS vary too, and can cause a wide range of medical, intellectual, and behavioral challenges.

Is Phelan McDermid Syndrome a neurological disorder?

How do you test for Phelan McDermid Syndrome?

Tests Used For Diagnosis

1. These tests are most commonly used to diagnose Phelan-McDermid syndrome (PMS):
2. Chromosomal Microarray Analysis (CMA) is a genetic test that is most commonly used to diagnose PMS and involves only providing a small amount of blood.