Parâmetros de Prática Clínica para avaliação e monitorização médica na Síndrome de Phelan-McDermid – Portuguese

Parâmetros de Prática Clínica para avaliação e monitorização médica na Síndrome de Phelan-McDermid – Portuguese

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.

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How a Genetic Counselor Can Help You

A Global Genes resource: Since most rare diseases are caused by changes in your genes, genetic testing is often part of the journey. But understanding your options may be challenging. Partnering with a genetic counselor can help you make the best choice for you and your family. What is a Genetic Counselor? A genetic counselor is a healthcare professional with special training in counseling and medical genetics. They can help you understand the diagnostic process and can advocate for you to obtain emotional and financial support and get the best possible care.

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Phenome‑wide profiling identifies genotype‑phenotype associations in Phelan‑McDermid syndrome

Phenome‑wide profiling identifies genotype‑phenotype associations in Phelan‑McDermid syndrome

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.

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2024 PMSF Virtual Family Conference Agenda

2024 PMSF Virtual Family Conference Agenda

Join us VIRTUALLY at the 2024 Phelan McDermid Syndrome Foundation Family Conference. Livestream is the next best thing to being there! The agenda is full of offerings in the three tracks titled CARE, CONNECT and CURE, ranging from research and science, clinical care and caregiver support topics that all help to improve the lives of those affected by Phelan-McDermid syndrome. If you have questions, contact us at conference@pmsf.org.

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