Phelan-McDermid Syndrome: Diagnosis and Treatment

How Do Doctors Treat PMS?

There is no cure for PMS. Treatment depends on your child’s symptoms and needs. The care team will talk with you to create a treatment plan for your child.
Common treatments can include:

• Regular follow-up care for your child’s symptoms and needs to address all health issues

• Making sure your child does not overheat from not sweating or sweating too little

• Learning how to keep your child healthy and safe when he does not communicate feeling pain

How Do Doctors Diagnose PMS?

Doctors can diagnose PMS with one or more of the following tests:

• Genetic testing
• Blood test
• Physical exam

Which Tests Might My Child Have As They Grow Up?

Your child might have one or more of the following tests, depending on their symptoms and needs:

• Ultrasound of the kidney
• Electroencephalography (imaging test of the brain)
• Sleep study
• Hearing and vision tests
• Thyroid tests

Who Is On My Child's Care Team?

There are many people on your child’s care team, depending on his needs. Care team members can include:

• Neurologist (nerve doctor)

• Geneticist (genetics doctor)

• Genetic counselor (person who helps coordinate genetic testing and explains the results)

• Dentist

• Ophthalmologist (eye doctor)

• Primary care provider

• Cardiologist (heart doctor)

• Gastroenterologist

• Developmental pediatrician during childhood (to help with developmental delays)

Where Can I Learn More About PMS?

You can learn more about PMS from:

• Your child’s care team

• Phelan-McDermid Foundation
  www.pmsf.org

• Chromosome 22 Central
  www.c22c.org

• Chromosome Disorder Outreach (CDO)
  www.chromodisorder.org

• Unique: The Rare Chromosome Disorder Support Group
  www.rarechromo.org

Rev. 5/2018. This handout is intended to provide health information so that you can be better informed. It is not a substitute for medical advice and should not be used to treatment of any medical conditions.