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Autism Versus Phelan-McDermid Syndrome

Phelan-McDermid syndrome is a rare genetic condition due to mutations in chromosome 22. In most cases, the mutations are de novo and the variety of mutations leads to a large array of symptoms and their severity. A common set of symptoms, however, are intellectual and behavioural patterns that can mimic those seen in autism. As such, many children with Phelan-McDermid syndrome are initially diagnosed as having autism. Dianne Linnehan, Director of Operations of the Phelan McDermid Syndrome Foundation is also the parent of one of those children. Her daughter was not diagnosed with Phelan-McDermid syndrome until the age of 22 years. “My daughter was diagnosed with autism when she was four but I always had this gut feeling that something else was going on we were doing the best things that we could do for we got her in the best schools and still she had she would learn a skill and then it would disappear,” noted Linnehan, adding “at seven, she had a global regression and lost her ability to speak. She lost basically all of her skills and nobody could tell us. The schools couldn't tell us what was going on. The doctors didn't know and it wasn't until she was 22 that we actually put the family in an RV and we drove to Cleveland Clinic to a doctor who we knew.” Linnehan’s advice for parents is to ‘follow your gut’ if the symptoms do not match a diagnosis of autism. “If something doesn't seem right, if your child has that low muscle tone, if your child is losing skills, if there's a regression, developing seizures – think about Phelan-McDermid syndrome” For more information, visit www.pmsf.org/