Vaccinations

Vaccinations

Vaccinations are a critical component of disease prevention and public health. In alignment with the Centers for Disease Control and Prevention (CDC), the World Health Organization (WHO), and other leading health authorities, we strongly recommend that eligible adults with PMS remain up to date with routine immunizations, including influenza (flu), COVID-19, shingles, pneumococcal, and Tdap. The PMSF Medical Advisory Committee (MAC) encourages all individuals and families to consult with their healthcare providers as they make decisions around immunizations and to address any concerns they may have. We encourage all individuals and families to consult with their healthcare providers as they make decisions around immunizations and to address any concerns they may have.

Continue ReadingVaccinations
Medical Advisory – Catatonia and Neuroleptic Malignant Syndrome (NMS)

Medical Advisory – Catatonia and Neuroleptic Malignant Syndrome (NMS)

The PMSF Medical Advisory Committee (MAC) would like to inform the patient community and the providers who care for them that around puberty or in early adulthood, some people with Phelan-McDermid syndrome are prone to developing bipolar disorder, associated psychotic features, and severe anxiety or obsessive-compulsive symptoms. Catatonia occurs in roughly 50% of Phelan-McDermid syndrome patients who develop psychiatric symptoms.

Continue ReadingMedical Advisory – Catatonia and Neuroleptic Malignant Syndrome (NMS)
Medical Advisory – Potential Rare Conditions in Phelan-McDermid Syndrome

Medical Advisory – Potential Rare Conditions in Phelan-McDermid Syndrome

It has come to the attention of the PMSF Medical Advisory Committee (MAC) that, in rare cases, some individuals with Phelan-McDermid syndrome are also at risk for metachromatic leukodystrophy (MLD) caused by variants in the arylsulfatase A (ARSA) gene and megalencephalic leukoencephalopathy with subcortical cysts (MLC) caused by variants in the MLC1 gene. For this reason, we wanted to provide the following guidance.

Continue ReadingMedical Advisory – Potential Rare Conditions in Phelan-McDermid Syndrome
Medical Advisory – Behavioral Therapy

Medical Advisory – Behavioral Therapy

It has come to the attention of the PMSF Medical Advisory Committee (MAC) that some individuals with Phelan-McDermid syndrome have challenges sustaining funding for behavioral therapy and related services if children are deemed to not be making adequate gains. For this reason, we wanted to provide the following guidance, which we hope will inform discussions of appropriate interventions.

Continue ReadingMedical Advisory – Behavioral Therapy