Este diagrama identifica as áreas de especialidades médicas que podem ser úteis na avaliação de uma pessoa diagnosticada com a Síndrome de Phelan-McDermid (PMS), as condições que podem estar presentes, os exames que podem ajudar no diagnóstico e a abordagem multidisciplinar.
Phelan-McDermid syndrome is characterized by global developmental delay, intellectual disability, speech impairment, autism spectrum disorder, and hypotonia; other variable features include epilepsy, brain and renal malformations, and mild dysmorphic features. Here, we conducted genotype-phenotype correlation analyses using the PMS International Registry, a family-driven registry that compiles clinical data in the form of family-reported outcomes and family-sourced genetic test results.
The objective of these updated clinical management guidelines was to: (1) reflect the latest in knowledge in PMS and (2) provide…
Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome that presents with a disturbed development, neurological and psychiatric characteristics, and sometimes other…
Clinicians treating PMS individuals experiencing a neuropsychiatric event can use this form to reach out to the Neuropsychiatric Consultation Group. The…
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.
Data has emerged that a subset of individuals with Phelan-McDermid syndrome (PMS) experience devastating psychiatric symptoms, such as regression, bipolar disorder, and catatonia.
CANDID , Consortium for Autism, Neurodevelopmental Disorders & Digestive Diseases, was a collaboration between patient advocacy groups, scientists, clinicians, and research organizations that is focused on…
The Clinical Care Guidelines infographic is a tool that can be used by patients to begin discussions with their own clinician. Please note that all cases of PMS are different and your doctor/clinician is the best resource to help you make clinical care decisions for your loved one.
The Clinical Care Guidelines infographic is a tool that can be used by patients to begin discussions with their own clinician. Please note that all cases of PMS are different and your doctor/clinician is the best resource to help you make clinical care decisions for your loved one.
