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bekend over het Pitt-Hopkins syndroom (PTHS). Maar de informatie is wel vooral gericht op medische problemen. Een groep dokters, psychologen en andere zorgverleners die veel te maken hadden met kinderen en volwassenen met PTHS, beseften dat ze niet allemaal op dezelfde manier handelden als er een probleem was. Dus besloten ze samen met verschillende verenigingen voor mensen met PTHS in de wereld om alle kennis uit de literatuur en de ervaring die ze hadden, samen te brengen. De resultaten werden met een grote groep families besproken tijdens de eerste PTHS-wereldconferentie in Nederland in mei 2018. Dit heeft geleid tot de eerste internationale consensus over de beste manier waarop een probleem bij een kind of volwassene met PTHS aangepakt kan worden.\n\nDe huidige aanbevelingen, 'de Guidelines', zijn bedoeld om het beoordelen van kenmerken en symptomen bij iedereen met PTHS te verbeteren, en om de zorgverleners en de gezinnen te helpen bij de zorg voor het kind of de volwassene met PTHS.\n\nDe manier van werken bij het stellen van de diagnose is zodanig opgesteld dat het overal gebruikt kan worden, dus op plaatsen met en zonder toegang tot moderne technologie. De aanbevelingen zijn bedoeld om kosteneffectief te zijn en onnodige maatregelen te vermijden.\n\nSamen met de verschillende nationale verenigingen die families met PTHS ondersteunen zullen de aanbevelingen van tijd tot tijd herzien worden om ze te blijven verbeteren.",{"id":315,"alt":315,"name":21,"focus":315,"title":315,"source":315,"filename":21,"copyright":315,"fieldtype":389,"meta_data":390},"asset",{},"text","white","\u003C!--#storyblok#{\"name\": \"text\", \"space\": \"288129203883393\", \"uid\": \"d2f03898-40f7-4681-8dc9-0610ebf2d2cf\", \"id\": \"141847307327389\"}-->",{"_uid":395,"link":396,"text":397,"image":398,"header":400,"component":391,"background":392,"_editable":401},"18971b0b-6cf3-41e3-a916-498a12bcaf12",[],"**Dr. Joseph Alaimo**   \nBaylor College of Medicine, Houston – USA  \nBetrokken bij de ontwikkeling van de Guidelines, thema: Darmproblemen\n\n**Dr. Inge van Balkom**   \nKinder- & jeugdpsychiater, systeemtherapeut, senior onderzoeker, directeur Jonx Specialisatie: syndromale aandoeningen met autisme fenotype (zoals o.a. Pitt-Hopkins syndroom, Smith-Magenis syndroom) en epidemiologisch onderzoek.\n\n**Dr. Emilia Bijlsma**   \nLeids Universitair Medisch Centrum, Leiden – The Netherlands   \nBetrokken bij de ontwikkeling van de Guidelines, thema: Prenatale diagnostiek\n\n**Prof. dr. Jill Clayton-Smith**   \nCentral Manchester University Hospitals, Manchester – UK   \nBetrokken bij de ontwikkeling van de Guidelines, thema: Diagnostische criteria\n\n**Prof. dr. Jannine Cody**   \nUniversity of Texas Health Science Center, San Antonio – USA  \nBetrokken bij de ontwikkeling van de Guidelines, thema: Zintuigen\n\n**Prof. dr. Sarah Elsea**   \nBaylor College of Medicine, Houston – USA   \nBetrokken bij de ontwikkeling van de Guidelines, thema: Ontwikkeling en gedrag\n\n**Dr. Irina Giurgea**   \nINSERM (Institut National de la Santé et Recherche Médicale), Paris – France   \nBetrokken bij de ontwikkeling van de Guidelines, thema: Algemene zorg voor volwassenen\n\n**Prof. dr. Raoul Hennekam**   \nAmsterdam Medical Center, Amsterdam – The Netherlands   \nCoördinator van de ontwikkeling van de Guidelines, thema’s: Ademhalingsproblemen en Revalidatie\n\n**Dr. Marina Macchiaiolo**   \nOspedale Pediatrico Bambino Gesu, Rome – Italy   \nBetrokken bij de ontwikkeling van de Guidelines, thema: Algemene zorg voor kinderen\n\n**Prof. dr. Chris Oliver**   \nSchool of Psychology, University of Birmingham\n\n**Dr. Sandra Wahlen**   \nHôpital Armand Trousseau, Paris\n\n**Prof. dr. Marcella Zollino**   \nUniversita Cattolica del Sacro Cuore, Roma  \nBetrokken bij de ontwikkeling van de Guidelines; thema Diagnostische criteria\n\n**Dr. Christiane Zweier** Uni-Klinikum Erlangen  \nBetrokken bij de ontwikkeling van de Guidelines, thema: DNA Criteria",{"id":315,"alt":315,"name":21,"focus":315,"title":315,"source":315,"filename":21,"copyright":315,"fieldtype":389,"meta_data":399},{},"De groep van deskundigen","\u003C!--#storyblok#{\"name\": \"text\", \"space\": \"288129203883393\", \"uid\": \"18971b0b-6cf3-41e3-a916-498a12bcaf12\", \"id\": \"141847307327389\"}-->","page",{"id":404,"alt":21,"name":21,"focus":21,"title":21,"source":21,"filename":405,"copyright":21,"fieldtype":389,"meta_data":406,"is_external_url":318},141847505238263,"https://a.storyblok.com/f/288129203883393/2560x1707/20c455f890/national-cancer-institute-fd0b-bl4cfc-unsplash-scaled.jpg",{},"\u003C!--#storyblok#{\"name\": \"page\", \"space\": \"288129203883393\", \"uid\": \"22f22c04-7b57-4e69-91b7-fdd74fe0edce\", \"id\": \"141847307327389\"}-->",-150,[],108580332993585,"d793c87c-f4be-4098-931b-94523f6ceabe","2026-02-05T19:44:48.634Z",[],[],[],{"cache-control":352,"connection":353,"content-encoding":354,"content-type":355,"date":417,"etag":418,"referrer-policy":358,"sb-be-version":359,"server":360,"transfer-encoding":361,"vary":362,"via":419,"x-amz-cf-id":420,"x-amz-cf-pop":365,"x-cache":366,"x-content-type-options":367,"x-frame-options":368,"x-permitted-cross-domain-policies":369,"x-ratelimit":370,"x-ratelimit-policy":371,"x-request-id":421,"x-runtime":422,"x-xss-protection":374},"Thu, 12 Feb 2026 19:06:21 GMT","W/\"438aca9094c91007702a9cfd462c2b83\"","1.1 a30317448118591e4932ae10a5a31262.cloudfront.net (CloudFront)","8AI3I-eBVtSGFc47Ix5vqI-w_B_VF9zikD_057VK2PHq7HrL-aJm9g==","0740bbe8-ec3f-4b3b-a197-83dccf95fa85","0.022601",1770923180129]