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private, must-revalidate","keep-alive","gzip","application/json; charset=utf-8","Thu, 12 Feb 2026 19:06:20 GMT","W/\"15d21ea837ce5dbfe57c0244b6f09c3e\"","strict-origin-when-cross-origin","5.467.0","nginx/1.29.1","chunked","Origin,accept-encoding","1.1 1b58e1b656a13c9733b75ae4afaa6100.cloudfront.net (CloudFront)","cQXnury97JW-NEZj8E0CaCzazSYueOJ7BhNZWswq2q2ZZqYn1mGdFQ==","ATL58-P8","Miss from 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criteria vastgesteld om te bepalen of iemand PTHS heeft of niet.\n\n### Hoofdkenmerken:\n\n- gezicht\n- smal voorhoofd\n- het buitenste deel van de wenkbrauwen is dun in vergelijking met het binnenste deel\nde neus (bovenste deel - middelste deel - onderste deel) is breed\n- de neusvleugels stulpen een beetje naar buiten toe uit\n- de wangen zijn mooi vol\n- de mond is groot, de lippen vol, de bovenlip loopt in het midden naar boven (\"cupido boog\")\n- de randen van de oren zijn dik en een beetje gevouwen\n- matige tot ernstige leermoeilijkheden (met geen of slechts beperkte spraak)\n- ademhalingsafwijkingen: ofwel te frequent (hyperbreathing) ofwel in periodes van pauze in de ademhaling (apneu)\n\n\n### Ondersteunende Kenmerken:\n\n- bijziendheid\n- constipatie\n- ongebruikelijke vorm van handen: de vingers zijn slank en de plooien in de handpalm lopen abnormaal\n- onstabiele gang\n- middels een score die wordt toegepast op de criteria wordt bepaald of de klinische diagnose van PTHS wordt gesteld\n","text","\u003C!--#storyblok#{\"name\": \"text\", \"space\": \"288129203883393\", \"uid\": \"3f629803-e9c2-4cb0-bc3a-acdbff353828\", \"id\": \"108580377865268\"}-->",{"_uid":390,"link":391,"text":398,"header":399,"component":387,"background":400,"_editable":401},"2304d8dd-c986-4356-9582-f3dc22026ced",[392],{"_uid":393,"link":394,"title":395,"component":396,"_editable":397},"08bedacd-7517-4e6e-9b1b-587a274a2cf5",{"id":68,"url":21,"linktype":22,"fieldtype":23,"cached_url":69},"Lees meer","link","\u003C!--#storyblok#{\"name\": \"link\", \"space\": \"288129203883393\", \"uid\": \"08bedacd-7517-4e6e-9b1b-587a274a2cf5\", \"id\": \"108580377865268\"}-->","Tot nu toe is het enige gen dat alle kenmerken van PTHS kan veroorzaken TCF4, een gen op chromosoom 18. Veranderingen in het gen TCF4 kunnen PTHS veroorzaken, maar kunnen ook andere syndromen veroorzaken die gepaard gaan met problemen in de ontwikkeling. Deze laatste groep kinderen en volwassenen moeten niet de diagnose PTHS krijgen.\nSituatie: Ouders met een kind met PTHS.\nKans op kind met PTHS:\n\nouders PTHS kind kind nog een kind baby van PTHS kind kind van brusjes PTHS kind\nniet wel 2% 50% nagenoeg 0%\n\nEen veelgebruikte DNA test om veranderingen in het TCF4 gen te zien heet \"next generation sequencing\" (NGS). Als zo'n verandering wordt gevonden bij iemand waar men het niet had verwacht moet het gehele gezin worden onderzocht en er moet worden onderzocht waar in het gen de verandering zich bevindt. Als een TCF4-variant wordt gevonden, is het niet eenvoudig vast te stellen of deze al dan niet schadelijk is.\nOp een echo op een ongeboren baby zijn geen PTHS-afwijkingen te zien. Alleen met DNA-onderzoek kan een diagnose worden gesteld.\nMet elk gezin dat een kind met PTHS heeft waarin de diagnose ook door het DNA-onderzoek is bevestigd, moet worden besproken, dat er een kleine kans is dat een volgend kind ook PTHS heeft en dat er betrouwbare prenatale tests beschikbaar zijn als ze dat willen.\nOmdat er altijd een beetje DNA van de ongeboren baby in het bloed van de moeder is, kan bij iedere aanstaande moeder het TCF-4 gen worden gecontroleerd. Ook is er DNA nodig van beide ouders. Als er varianten op het TCF-4 gen worden gevonden kan niet betrouwbaar worden bepaald of dat een variant van normaal is of echt schade veroorzaakt.\nVanwege deze onzekerheid concludeerde de groep van deskundigen dat dergelijke tests, buiten een gezin dat al een kind met PTHS heeft, op dit moment niet nuttig zijn.","DNA en Erfelijkheid","blue","\u003C!--#storyblok#{\"name\": \"text\", \"space\": \"288129203883393\", \"uid\": \"2304d8dd-c986-4356-9582-f3dc22026ced\", \"id\": \"108580377865268\"}-->",{"_uid":403,"link":404,"text":410,"header":411,"component":387,"background":412,"_editable":413},"8777dd6e-0c0e-4fac-a257-480bcf0d4aa8",[405],{"_uid":406,"link":407,"title":408,"component":396,"_editable":409},"5935ab2d-d23a-47c9-a911-d8a8ea873ccd",{"id":79,"url":21,"linktype":22,"fieldtype":23,"cached_url":80},"Lees meer ","\u003C!--#storyblok#{\"name\": \"link\", \"space\": \"288129203883393\", \"uid\": \"5935ab2d-d23a-47c9-a911-d8a8ea873ccd\", \"id\": \"108580377865268\"}-->","Voedingsproblemen op latere leeftijd, zoals kokhalzen, weigeren te eten, en alleen eten op een bepaalde tijd of plaats, of een bepaald soort voedsel, kunnen voorkomen, maar over het algemeen worden kinderen en volwassenen met PTHS beschreven als uitstekende eters. \n\nSpijsverteringsproblemen komen vaak voor. Constipatie komt bij de meerderheid voor. \n\nBij 40% komt reflux voor. Bij een derde is er sprake van veel boeren en bij ongeveer de helft het inslikken van lucht in de maag. Reguliere medicijnen tegen reflux werken doorgaans goed. \n\nDe behandeling van constipatie is hetzelfde als bij mensen zonder PTHS. In de vorm van medicijnen en door gedrag te veranderen. Een dagboek bijhouden van de stoelgang geeft een goed inzicht in de problematiek.","Maag - darmstelsel","orange","\u003C!--#storyblok#{\"name\": \"text\", \"space\": \"288129203883393\", \"uid\": \"8777dd6e-0c0e-4fac-a257-480bcf0d4aa8\", \"id\": \"108580377865268\"}-->",{"_uid":415,"link":416,"text":421,"header":422,"component":387,"background":423,"_editable":424},"667326ee-ee37-4c31-b59f-7e71c8b167bf",[417],{"_uid":418,"link":419,"title":408,"component":396,"_editable":420},"faa5a7b2-2448-428d-90ed-a94cb84865a8",{"id":34,"url":21,"linktype":22,"fieldtype":23,"cached_url":35},"\u003C!--#storyblok#{\"name\": \"link\", \"space\": \"288129203883393\", \"uid\": \"faa5a7b2-2448-428d-90ed-a94cb84865a8\", \"id\": \"108580377865268\"}-->","Een verstoring van een regelmatige ademhaling is een van de belangrijke criteria van PTHS. Bij 48% komt te snel ademen voor. Het typische ademhalingspatroon bestaat uit een snelle, soms regelmatige en soms onregelmatige ademhaling, gevolgd door een pauze in de ademhaling (apneu). Het duurt meestal 2 tot 5 minuten. Het kan meerdere keren per uur tot enkele keren per jaar voorkomen. Het wordt uitgelokt door opwinding, stress of angst.\n\nAan iedereen die betrokken is bij kinderen en volwassenen met PTHS moet worden uitgelegd dat aanvallen van te snel en te traag ademen voorkomen en dat het onwaarschijnlijk is dat ze schadelijk zijn. Een relatie met epilepsie is onzeker. Veel mensen met ademhalingsproblemen ontwikkelen een verbreding van de vingertoppen.\n\nAdemhalingsproblemen kunnen angsten en onrust veroorzaken, maar velen lijken er zich niet gestoord door te voelen. Als iemand met PTHS 's nachts ademhalingsstoornissen heeft, moet slaaponderzoek worden overwogen om obstructieve slaapapneu uit te sluiten.\n\nEr is onderzoek gaande naar de werking van sarizotan of dat het voorkomen van apneu en snelle ademhaling vermindert.","Ademhaling ","white","\u003C!--#storyblok#{\"name\": \"text\", \"space\": \"288129203883393\", \"uid\": \"667326ee-ee37-4c31-b59f-7e71c8b167bf\", \"id\": \"108580377865268\"}-->",{"_uid":426,"link":427,"text":432,"header":142,"component":387,"background":412,"_editable":433},"c73de3c8-cf24-4a20-96b5-2ca195c15ff8",[428],{"_uid":429,"link":430,"title":408,"component":396,"_editable":431},"0c2ae154-225a-4ded-856d-c350f6e7029c",{"id":139,"url":21,"linktype":22,"fieldtype":23,"cached_url":140},"\u003C!--#storyblok#{\"name\": \"link\", \"space\": \"288129203883393\", \"uid\": \"0c2ae154-225a-4ded-856d-c350f6e7029c\", \"id\": \"108580377865268\"}-->","#### Gezichtsvermogen\n\nBij ca. 10% van PTHS-kinderen zijn de traanbuisjes verstopt. Problemen met scherp zien komen vaak voor: Bijziendheid, scheelzien en ogen die snel van kant naar kant bewegen.\n\nElk kind met PTHS moet gecontroleerd worden op zijn of haar gezichtsvermogen als de diagnose is gesteld, en dit moet vervolgens regelmatig herhaald worden.\n\n#### Gehoor\n\nGehoorverlies is niet gebruikelijk. Toch moet het gehoor regelmatig worden getest bij iedereen met PTHS.\n\n#### Reuk\n\nEr is geen onderzoek gedaan naar de reukzin bij kinderen met PTHS.\n\n#### Pijn\n\nPijn is moeilijk te herkennen bij mensen met PTHS. Het is belangrijk dat zorgverleners zich dat realiseren. Vertellen kunnen ze het niet dus laten ze het op andere diverse manier zien.","\u003C!--#storyblok#{\"name\": \"text\", \"space\": \"288129203883393\", \"uid\": \"c73de3c8-cf24-4a20-96b5-2ca195c15ff8\", \"id\": \"108580377865268\"}-->",{"_uid":435,"link":436,"text":441,"image":442,"header":98,"component":387,"background":423,"_editable":445},"4d1f6726-942f-4928-86d4-d318a55d7888",[437],{"_uid":438,"link":439,"title":395,"component":396,"_editable":440},"96d1ba09-b743-4a7c-88b4-b6e744a95742",{"id":95,"url":21,"linktype":22,"fieldtype":23,"cached_url":96},"\u003C!--#storyblok#{\"name\": \"link\", \"space\": \"288129203883393\", \"uid\": \"96d1ba09-b743-4a7c-88b4-b6e744a95742\", \"id\": \"108580377865268\"}-->","Bijna de helft van de mensen met PTHS heeft epilepsie. Aanvallen gaan soms samen met apneus en een snelle ademhaling.  EEG (elektro-encefalogram) studies moeten alleen worden uitgevoerd wanneer er duidelijke epilepsie aanvallen zijn of wanneer men blijft twijfelen als iemand met PTHS epilepsie aanvallen heeft of apneus vertoont.\n\nEpilepsie aanvallen kunnen net zo worden behandeld als bij ieder ander met epilepsie; er is geen goed bewijs dat het ene geneesmiddel tegen epilepsie beter werkt dan het andere.\n\nEr is een merkbaar verschil in spierspanning bij mensen met PTHS: driekwart heeft een lage spierspanning (hypotonie) in de romp, en net onder 10% juist een hoge spierspanning (hypertonie). Een derde heeft deze hoge spierspanning in armen en benen.\n\nDe slaap is nog niet in detail onderzocht bij mensen met PTHS.",{"id":315,"alt":315,"name":21,"focus":315,"title":315,"source":315,"filename":21,"copyright":315,"fieldtype":443,"meta_data":444},"asset",{},"\u003C!--#storyblok#{\"name\": \"text\", \"space\": \"288129203883393\", \"uid\": \"4d1f6726-942f-4928-86d4-d318a55d7888\", \"id\": \"108580377865268\"}-->","Pitt-Hopkins syndroom in het kort","page",{"id":449,"alt":21,"name":21,"focus":21,"title":21,"source":21,"filename":450,"copyright":21,"fieldtype":443,"meta_data":451,"is_external_url":318},120599599738291,"https://a.storyblok.com/f/288129203883393/1920x1280/22e13f240d/header-homepage.jpg",{},"\u003C!--#storyblok#{\"name\": \"page\", \"space\": \"288129203883393\", \"uid\": \"aaea9908-289b-4f21-8ebd-52b10cf8d934\", \"id\": \"108580377865268\"}-->",-220,[],108580332993585,"e485c89d-2100-471e-bf09-9f032cbc2f97","2025-11-03T19:35:12.917Z",[],[],[],{"cache-control":352,"connection":353,"content-encoding":354,"content-type":355,"date":462,"etag":463,"referrer-policy":358,"sb-be-version":359,"server":360,"transfer-encoding":361,"vary":362,"via":363,"x-amz-cf-id":464,"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":465,"x-ratelimit-policy":371,"x-request-id":466,"x-runtime":467,"x-xss-protection":374},"Thu, 12 Feb 2026 19:06:21 GMT","W/\"a2ecac15191e797313327631d74a26fb\"","UP-REvtn-vMd9REbHlNfNQX9-fVZ_gjwYXRlAGPzhasenEXB5JPNYA==","\"space-concurrent-requests\";r=29","6e8661ae-f0a4-4eea-9743-0040dcb2137d","0.019909",1770923181084]