Catatonia in neurodevelopmental disorders: assessing catatonic deterioration from baseline

Catatonia in neurodevelopmental disorders: assessing catatonic deterioration from baseline

Despite the inclusion of catatonia as a specifier of autism spectrum disorder in DSM-5, we—a team of child and adolescent neuropsychiatrists who specialise in paediatric catatonia and neurodevelopmental disorders—have identified a number of issues with the diagnosis and clinical management of catatonia in our patients.

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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.

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