Testing & Evaluation

Families coping with a Phelan-McDermid Syndrome (PMS) diagnosis or who are looking to learn more about the condition have several resources available to them. “We are examining the biological causes behind autism spectrum disorders and related pervasive developmental disorders such as PMS/22q13 Deletion Syndrome (22q13DS) and SHANK3 mutations in order to develop more sophisticated treatments for patients,” says Alex Kolevzon, MD, Clinical Director of the Seaver Autism Center and Associate Professor of Psychiatry and of Pediatrics at the Icahn School of Medicine at Mount Sinai. “Clinical and research studies yield important insights and information, and we are grateful to our patients and their families for allowing us to learn from them so that we can help others.”

How do I know if I am a carrier of PMS?

Parents cannot be a carrier in the way that this is usually understood. In most cases, the mutation to chromosome 22 or to SHANK3 is present for the first time in the child as a result of a mutation in the egg or sperm. There are, however, cases when a parent has a translocation or other chromosomal change that results in a chromosomal deletion in the child.

How will I know if my child has PMS?

PMS severity and symptoms can vary. Most children born with PMS show moderate to severe developmental delays. Newborns with PMS typically show weak muscle tone and struggle with breastfeeding or drinking from a bottle. They may miss typical childhood milestones related to speaking, communication, and movement, such as rolling over, crawling, or walking. Genetic testing is the means to determine whether there is a deletion in 22q or a mutation in SHANK3.

What can I do?

If you have concerns about your child, please visit an expert care center or your local hospital and seek an evaluation. Genetic counseling and testing can be done to determine if your child has 22q13DS or a SHANK3 mutation. Expert centers, such as leading hospitals and national academic medical centers like the Seaver Autism Center, offer comprehensive, multidisciplinary care, providing your child with the best opportunity for a maximally fulfilling life. Interventions and treatments include behavioral management, physical and speech therapy, and medications that can treat children who experience symptoms of epilepsy or other associated conditions.

Research is also greatly needed. Contribute to research centers, advocate for funding of coordinated, rigorous research, and participate in research studies.