What is Phelan-Mcdermid Syndrome?Discovered just over two decades ago, Phelan-McDermid Syndrome is a highly under diagnosed genetic form of autism that is caused by the deletion of part of chromosome 22 or by a mutation of the SHANK3 gene or other related genes. The first cases were identified in 1992 by Dr. Katy Phelan and it initially was called 22q13 Deletion Syndrome. Within a few years, Dr. Phelan and other researchers identified less than two dozen cases of the syndrome, but that number has now grown to more than 1,100 individuals worldwide who are diagnosed with PMS. In most of the identified cases, the condition is not inherited from parents but results from a spontaneous genetic mutation. The size of the deletion is highly variable and has a direct effect on an individual’s disability.

How is Phelan-McDermid Syndrome Diagnosed? Array comparative genomic hybridization (CGH), also called microarray, is the most common method for diagnosing PMS. Larger deletions can also be detected using fluorescence in situ hybridization (FISH) or chromosome analysis. If a diagnosis of Phelan-McDermid Syndrome is suspected, but no deletion of 22q13 is detected through CGH, DNA sequencing may

detect mutations of the SHANK3 gene or other related genes. Besides deletions of parts of the chromosome, PMS can also be the result of a ring mutation, translocation of genetic material and other mutations. All can be detected from blood samples as well as from skin cells or cells used for prenatal testing.

What are some common characteristics? PMS involves a variety of developmental delays.

Keeping a close eye on when—or if—your child is hitting the key social, emotional and cognitive milestones is an effective way to spot the problem early on. Some of the telltale signs are flaky toenails; large, fleshy hands; prominent ears; droopy eyelids; long eye lashes; full eyebrows; poor muscle tone and increased tolerance to pain. A number of individuals have seizures and anomalies of the spine. Many chew often on non-food items such as clothing, bedding and toys. Listen to your

instincts. Some bite themselves or excessively flap their arms when excited. If they’re telling you something is wrong schedule an appointment with your doctor or ask for a referral to a child development specialist.

Phelan-Mcdermid Learning Stratgies Individuals diagnosed with Phelan-McDermid Syndrome will face learning challenges. Assistive

Phelan-McDermid Syndrome?

PARENTING SPECIAL NEEDS.ORG26 MAR/APR 2014

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technology can help your child learn material in a way they can understand it. IPads and similar devices can help improve communication skills, increase social interaction and help your child build a better understanding of their environment. An Individual Education Plan (IEP) is a working document that should be developed, implemented and monitored in a collaborative manner with you, your child’s teachers and therapists.

Whom should I consult if I suspect?The Phelan-McDermid Syndrome Foundation

(www.pmsf.org) was established in 1998 and is today the leading organization for support and information about PMS. PMSF serves families by funding research and maintaining a global network of communication with our members. One of the main PMSF initiatives was the development of a web-based International Patient Registry. By participating, families are engaging in the quest for a cure. With more than 200 questions related to the features of PMS, the Phelan-McDermid Syndrome Foundation has created the most comprehensive database of information about diagnosed individuals. The registry also allows researchers to access anonymous information about those with PMS for scientific studies. The registry also allows the PMSF to contact families to invite them to participate in clinical studies and clinical trials. In July 2014, the PMSF family will once again gather in Orlando, Fla., for our ninth International Family Conference with the theme of “Embracing Today, Empowering Tomorrow”. Presenters will discuss topics ranging from the latest advances in assistive technology to scientific research developments and what breakthroughs might lie ahead. And, of course, family togetherness and support is a huge component of the conference. Sometimes, just sharing life’s toughest experiences and biggest victories can make all the difference.

GET CONNECTED: Families can get connected by registering with Phelan-McDermid Syndrome Foundation. Go to www.pmsf.org and click on the Membership link or contact Jack Sweeney at jack@pmsf.org for more information.

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