Phelan McDermid Syndrome Clinics
PMSF is proud to highlight a growing network of clinics where experienced providers are currently seeing individuals with Phelan-McDermid syndrome. These clinics include experts in a range of specialties—such as gastroenterology, neurology, psychiatry, and genetics—and many of the providers are active members of the PMSF Medical Advisory Committee (MAC), Natural History Study (NHS), or PMSF Neuropsychiatric Consultation Group (NCG).
While services vary by location, providers at these clinics have experience caring for individuals with Phelan-McDermid syndrome and may be able to offer referrals or coordinate with other specialists as needed. Please note that families will work directly with each clinic regarding scheduling, insurance coverage, and payment for services.
This marks the first step in PMSF’s long-term goal to establish Phelan-McDermid Syndrome Centers of Excellence. We will continue to expand this list as new clinics are identified. For general questions, more information, or to provide feedback, please contact info@pmsf.org.
Phelan-McDermid Syndrome Clinics:
- Recognized by PMSF for their expertise in Phelan-McDermid syndrome
- Include at least one provider accepting new patients with Phelan-McDermid syndrome
- Site specific in what specialty they offer—neurology, psychiatry, genetics, GI, etc.
- Referrals to other specialists
- Telehealth or out-of-state appointments (site-specific)
- Care for children, adults, or both (site-specific)
- A guaranteed fit for every individual or need
- A replacement for your full care team
- Multi-disciplinary centers where you see multiple specialists in one day (this is our long-term goal!)
| Clinic | Provider | Specialty | Contact | Notes |
|---|---|---|---|---|
| Arnold Palmer Hospital for Children Center for Digestive Health and Nutrition | Shaista Safder, MD | Pediatric Gastroenterology | 321-841-3338 | Pediatric Motility Center |
| Boston Children's Hospital (MA) | Milena Andzelm, MD, PhD | Neurology | Jessiree Pena: 857-218-4794 | Only seeing only patients with neuroinflammatory phenotypes |
| Boston Children's Hospital (MA) | Pilar Trelles, MD | Psychiatry | Geovani DelValle: 617-355-6157 Geovani.DelValle@childrens.harvard.edu | |
| Boston Children's Hospital (MA) | Sid Srivastava, MD | Neurology | Geovani DelValle: 617-355-6157 Geovani.DelValle@childrens.harvard.edu | Pediatric |
| Cincinnati Children's Hospital Medical Center (OH) | Cincinnati Children's Hospital Medical Center (OH) | Multidisciplinary (Genetics, Neurology and Psychiatry) | phelanmcdermid@cchmc.org | Pediatrics; Adult patients determined case by case |
| Children's Hospital of Los Angeles (CA) | Jonathan D. Santoro, MD | Neurology | https://www.chla.org/sites/default/files/2024-01/CH-0281-Neurology-Referral-Form-011024.pdf | Accepting new patients for neuroimmunology; Be sure to mention PMSF as the referral |
| Kennedy Krieger Institute (MD) | Aaron Hauptman, MD | Psychiatry | Intake evaluations: 888-554-2080 | Not accepting new patients over 18 years old |
| Massachusetts General Hospital Lurie Center (MA) | Lurie Center for Autism | Multidisciplinary (Genetics, Neurology, Gastroenterology, and Psychiatry) | Contact Contact AJ Cullen, LISCW at: LurieCenter@partners.orgLurieCenter@partners.org | Can see both pediatric and adult patients with Phelan-McDermid syndrome or suspected Phelan-McDermid syndrome |
| Memorial Sloan Kettering (NY) | Matthias A. Karajannis, MD, MS | Neuro-Oncology (NF2) | 866-439-0412 | Pediatric and Adults |
| Riley Children's Health (IN) | William Bennett, Jr, MD, MS | Gastroenterology | 317-944-3774 | Pediatric |
| Rush University Medical Center (IL) | Elizabeth Berry-Kravis, MD, PhD | Neurology | Elizabeth Fitt: 872-362-5302 elizabeth_l_fitts@rush.edu | Pediatric |
| Texas Children’s Hospital (TX) | Jimmy Holder, MD, PhD | Neurology | Truzella Benton: 832-822-1530 | Pediatric |
| UCLA Mattel Children's Hospital | Rajsekar R. Rajaraman, MD, MS | Neurology | Anais Ruiz: AJRuiz@mednet.ucla.edu | Pediatric |
Share Your Providers and Clinics:
Do you have a provider who has provided excellent care for your loved one with Phelan-McDermid syndrome? Caregivers, families, individuals, medical providers, therapists, eduction professionals may submit information to share by clicking on this link.