{"id":98625,"date":"2023-01-14T08:00:28","date_gmt":"2023-01-14T11:00:28","guid":{"rendered":"https:\/\/redenoticiaz.com.br\/litoralsp\/?p=98625"},"modified":"2023-01-10T21:52:54","modified_gmt":"2023-01-11T00:52:54","slug":"sindrome-de-phelan-mcdermid-doenca-rara-que-e-confundida-com-o-autismo","status":"publish","type":"post","link":"https:\/\/redenoticiaz.com.br\/litoralsp\/2023\/01\/14\/sindrome-de-phelan-mcdermid-doenca-rara-que-e-confundida-com-o-autismo","title":{"rendered":"S\u00edndrome de Phelan-McDermid: doen\u00e7a rara que \u00e9 confundida com o autismo"},"content":{"rendered":"

Uma das doen\u00e7as mais comentadas nos \u00faltimos anos no Brasil \u00e9 o Transtorno do Espectro Autista (TEA). Ela compromete o est\u00edmulo social e neurol\u00f3gico e \u00e9 dividido em tr\u00eas graus: leve (onde quase ningu\u00e9m percebe), m\u00e9dio (causador de certo comprometimento neurol\u00f3gico) e grave. Mas parte dos pacientes diagnosticados com o autismo, na verdade podem estar com outra s\u00edndrome, considerada ainda mais rara:\u00a0 a S\u00edndrome de Phelan-McDermid<\/strong>.<\/p>\n

Ela foi identificada pela primeira vez nos Estados Unidos no fim da d\u00e9cada de 1980. A pedagoga Cl\u00e1udia Spadoni, representante brasileira da ONG americana Phelan McDermid Syndrome Foundation<\/a>, conta que o problema \u00e9 fruto da desordem em um dos nossos 23 pares de cromossomos, que s\u00e3o as estruturas das c\u00e9lulas onde o DNA fica guardado.<\/p>\n

Estima-se que no mundo existem 2 200 portadores diagnosticados, segundo a ONG Phelan McDermid Syndrome Foundation. Desse total, 150 est\u00e3o no Brasil, onde a enfermidade come\u00e7ou a ser detectada somente h\u00e1 dez anos.<\/p>\n

Os principais sinais apresentados entre os participantes foram alta toler\u00e2ncia a dor (80%), hipotonia (85%) e espa\u00e7amento de sobrancelhas (80%). De acordo com os autores, a pesquisa confirma que a intensidade dos sintomas \u00e9 definida pelo n\u00edvel da varia\u00e7\u00e3o gen\u00e9tica.<\/p>\n

Caso em Santos<\/h3>\n
A m\u00e3e da pequena Maria Clara, Fab\u00edola Clares, contou como foi o diagn\u00f3stico feito ainda na gravidez, quando foi avisada de uma altera\u00e7\u00e3o no tamanho do rim. Ao nascer, em Santos, Lityoral de S\u00e3o Paulo, ela percebeu problemas na fala e no olho. Inicialmente um neurologista consultado disse que ela teria autismo. Mas ao chegar em S\u00e3o Paulo, foi descoberto que ela estava com a de Phelan-McDermid.<\/div>\n
<\/div>\n
\n
\n
\n

“A S\u00edndrome de Phelan-McDermid (ou S\u00edndrome 22q13 ou PMS) \u00e9 uma desordem gen\u00e9tica resultante de altera\u00e7\u00f5es no bra\u00e7o longo do cromossomo 22. Essas altera\u00e7\u00f5es podem ser provenientes de uma dele\u00e7\u00e3o terminal ou intersticial, de transloca\u00e7\u00e3o, duplica\u00e7\u00e3o ou muta\u00e7\u00e3o dos genes dessa regi\u00e3o. Em todos os casos registrados at\u00e9 o momento, o gene SHANK3 foi afetado de alguma forma”, conta.<\/p>\n

“Sem d\u00favida, a principal caracter\u00edstica desta s\u00edndrome \u00e9 o atraso global no desenvolvimento neuropsicomotor da crian\u00e7a, acompanhado de uma hipotonia importante, alta toler\u00e2ncia a dor, atraso ou aus\u00eancia de fala. Um comportamento aut\u00edstico \u00e9 frequentemente observado tamb\u00e9m”.<\/p>\n

Tratamento<\/h3>\n

Somente os exames gen\u00e9ticos acusam a sua presen\u00e7a. O problema \u00e9 que eles n\u00e3o est\u00e3o dispon\u00edveis na rede p\u00fablica. Alguns at\u00e9 s\u00e3o cobertos por planos de sa\u00fade, mas em geral custam caro.<\/p>\n

Quanto ao tratamento, n\u00e3o existe cura para a Phelan-McDermid. O que se faz \u00e9 um trabalho terap\u00eautico para cuidar dos sintomas. Ele se baseia em sess\u00f5es de fonoaudiologia, fisioterapia e terapia ocupacional, al\u00e9m de rem\u00e9dios para lidar com eventuais manifesta\u00e7\u00f5es f\u00edsicas.<\/p>\n

Fab\u00edola conta como tem sido o tratamento realizado, para diminuir os efeitos da s\u00edndrome. “Hoje a Maria Clara frequenta a escola, faz a fonoaudiologia, em raz\u00e3o da apraxia, para ter uma comunica\u00e7\u00e3o alternativa, tamb\u00e9m pratica surf adaptado e equoterapia.<\/p>\n

Recentemente, outra organiza\u00e7\u00e3o chamada CureSHANK<\/a> foi criada nos Estados Unidos para incentivar o investimento em pesquisas de desenvolvimento de novas drogas.<\/p>\n

LEIA TAMB\u00c9M<\/strong><\/p>\n

Risco de contamina\u00e7\u00e3o por leptospirose acende alerta em Cajamar<\/a><\/p>\n

 <\/p>\n<\/div>\n<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"

Uma das doen\u00e7as mais comentadas nos \u00faltimos anos no Brasil \u00e9 o Transtorno do Espectro Autista (TEA). Ela compromete o est\u00edmulo social e neurol\u00f3gico e \u00e9 dividido em tr\u00eas graus: leve (onde quase ningu\u00e9m percebe), m\u00e9dio (causador de certo comprometimento neurol\u00f3gico) e grave. Mas parte dos pacientes diagnosticados com o autismo, na verdade podem estar …<\/p>\n","protected":false},"author":6,"featured_media":98626,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[23],"tags":[17683,52967,986,96,62466,2811],"class_list":["post-98625","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-saude","tag-autismo","tag-causas","tag-santos","tag-saude","tag-sindrome-phelan-mcdermid","tag-tratamento"],"yoast_head":"\nS\u00edndrome de Phelan-McDermid: doen\u00e7a rara que \u00e9 confundida com o autismo - Litoral SP<\/title>\n<meta name=\"description\" content=\"pacientes diagnosticados com o autismo, na verdade podem estar com outra s\u00edndrome, considerada ainda mais rara:\u00a0 a S\u00edndrome de Phelan-McDermid.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/redenoticiaz.com.br\/litoralsp\/2023\/01\/14\/sindrome-de-phelan-mcdermid-doenca-rara-que-e-confundida-com-o-autismo\" \/>\n<meta property=\"og:locale\" content=\"pt_BR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"S\u00edndrome de Phelan-McDermid: doen\u00e7a rara que \u00e9 confundida com o autismo - 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