{"id":126465,"date":"2025-09-02T05:05:10","date_gmt":"2025-09-02T05:05:10","guid":{"rendered":"https:\/\/www.newsbeep.com\/us\/126465\/"},"modified":"2025-09-02T05:05:10","modified_gmt":"2025-09-02T05:05:10","slug":"new-findings-on-phelan-mcdermid-syndrome-and-more","status":"publish","type":"post","link":"https:\/\/www.newsbeep.com\/us\/126465\/","title":{"rendered":"New findings on Phelan-McDermid syndrome; and more"},"content":{"rendered":"<p>A flurry of Phelan-McDermid syndrome papers: Four studies published this week advance knowledge about Phelan-McDermid syndrome, also known as 22q13 deletion syndrome. The condition is characterized by intellectual disability, developmental delays, behavioral abnormalities and often autism, with considerable variability. A natural-history analysis of data from two cohorts of people with Phelan-McDermid syndrome described <a href=\"https:\/\/doi.org\/10.1352\/1944-7558-130.5.362\" target=\"_blank\" rel=\"nofollow noopener\">delays in acquiring basic skills<\/a> and regression or loss of skills. A genetic study found that <a href=\"https:\/\/doi.org\/10.1352\/1944-7558.130.5.395\" target=\"_blank\" rel=\"nofollow noopener\">people with small deletions have less impairment overall<\/a> than those with large deletions or sequence variants. Zeroing in on sensory neural processing, researchers showed that people with the condition have <a href=\"https:\/\/doi.org\/10.1186\/s11689-025-09642-4\" target=\"_blank\" rel=\"nofollow noopener\">altered responses to auditory stimuli<\/a> as measured with electroencephalography, and again, the larger the deletion, the greater the change. Finally, children with Phelan-McDermid syndrome displayed <a href=\"https:\/\/doi.org\/10.1352\/1944-7558-130.5.414\" target=\"_blank\" rel=\"nofollow noopener\">greater severity of intellectual disability<\/a> than those with tuberous sclerosis complex or PTEN hamartoma tumor syndrome.<\/p>\n","protected":false},"excerpt":{"rendered":"A flurry of Phelan-McDermid syndrome papers: Four studies published this week advance knowledge about Phelan-McDermid syndrome, also known&hellip;\n","protected":false},"author":2,"featured_media":126466,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[50],"tags":[200,79],"class_list":["post-126465","post","type-post","status-publish","format-standard","has-post-thumbnail","category-genetics","tag-genetics","tag-science"],"_links":{"self":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/posts\/126465","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/comments?post=126465"}],"version-history":[{"count":0,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/posts\/126465\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/media\/126466"}],"wp:attachment":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/media?parent=126465"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/categories?post=126465"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/tags?post=126465"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}