Downin oireyhtymä

Käypä hoito
23.12.2010
Suomalaisen Lääkäriseuran Duodecimin ja Suomen Kehitysvammalääkärit - Finlands läkare för utvecklingsstörda ry:n asettama työryhmä

Koosteet

Potilaalle

Keskeinen sisältö

  • Downin oireyhtymässä todetaan useiden elinjärjestelmien alueella rakennevian tai elinikäisen toimintahäiriön tai sairauden suurentunut vaara.
  • Kunkin sairauden, toimintahäiriön tai poikkeavuuden osalta tulee noudattaa ensisijaisesti koko väestöä koskevia seulonta-, tutkimus- ja hoitosuosituksia, mutta tavallista tiiviimpi seuranta on tarpeen.
    • Aistitoimintojen tutkiminen on Downin oireyhtymässä vaativaa ja edellyttää usein erikoistason tutkimuksia.
    • Kommunikaatiotaitojen heikkous vaikeuttaa oireiden kuvaamista ja täten monien sairauksien havaitsemista.
  • Downin oireyhtymään liittyy hyvin eritasoisia kehityshäiriöitä. Lapsen kehitys on yksilöllistä, ja kuntoutus tulee suunnitella yksilöllisesti.

Tavoite

  • Suosituksen tavoitteena
    • on tehdä tunnetuiksi moninaiset terveydelliset ongelmat, jotka voivat liittyä Downin oireyhtymään ja
    • antaa niitä koskevat näyttöön pohjautuvat hoitosuositukset.

Kohderyhmä

  • Suositus on tarkoitettu perusterveydenhuollon, erikoissairaanhoidon ja erityishuoltopiirien sekä sosiaalitoimen henkilökunnille, jotka työssään seuraavat ja hoitavat henkilöitä, joilla on Downin oireyhtymä.

Downin oireyhtymä

Taulukko 1. Tiivistelmä tärkeimmistä terveysongelmista, jotka tulee huomioida perusterveydenhuollossa käynnin yhteydessä.
Kliininen oire tai löydös Erityinen ikä Toimenpide
Synnynnäinen sydänvika 0–1 kk kaikututkimus ja kardiologin konsultaatio
Läppävika varhaisaikuisuus kaikututkimus ja kardiologin konsultaatio, jos uusi sivuääni on ilmaantunut
Heikko pituuskasvu lapsuus ja nuoruus Down-kasvukäyrien käyttö
Taipumus lihavuuteen läpi elämän oikeaan ruokavalioon ohjaaminen, ravitsemusterapeutin konsultaatio
Suurentunut keliakiariski läpi elämän lastenlääkärin tai sisätautilääkärin konsultaatio, jos esiintyy keliakiaan liittyviä autovasta-aineita; ravitsemusterapeutin konsultaatio
Kognitiiviset ja motoriset vaikeudetläpi elämän tuki kotona, päiväkodissa, koulussa, ammattikoulutuksessa ja itsenäisessä asumisessa
Infantiilispasmit ja epilepsia liittyneenä Alzheimerin tautiinimeväis- ja aikuisikälastenneurologin tai neurologin hoito
Liimakorva varhaislapsuus kuulontutkimus ja korvalääkärin konsultaatio
Kuulon heikkous läpi elämän kuulovammaisen apuvälineet ja kuntoutus
Varhainen ikäkuulo aikuisikä kuulontutkimus ja korvalääkärin konsultaatio
Taittovirhe ja/tai akkommodaatiovaikeus imeväisikä ja läpi elämän silmälääkärin konsultaatio
Karsastus varhaislapsuus silmälääkärin konsultaatio
Kaihi lapsuus – varhainen aikuisuus silmälääkärin konsultaatio
Toiminnallisen näön käytön vaikeus esikouluikä, työelämään siirtyminensilmälääkärin konsultaatio
Varhainen ikänäkö varhainen aikuisikä silmälääkärin konsultaatio
Kilpirauhasen vajaatoiminta läpi elämän laboratorioseuranta
Käyttäytymishäiriöt lapsuudesta alkaen psykologin konsultaatio
Psyykkiset häiriöt voi ilmetä eri ikäkausinapsykiatrin konsultaatio
Varhainen dementia noin 40 vuoden iästä eteenpäin neurologin tai geriatrin, tarvittaessa psykiatrin (depressio) ja psykologin konsultaatio
Tukielinpulmat liittyneinä yliliikkuviin niveliin ja lihasten hypotoniaanläpi elämänlastenkirurgin, ortopedin, lastenneurologin, neurologin ja/tai neurokirurgin konsultaatio
Atlanto-oksipitaalinen luksaatioläpi elämänneurokirurgin konsultaatio

Kehitys

Kilpirauhasen toimintahäiriöt

Taulukko 2. Suositus kilpirauhasarvojen (tyreotropiini, TSH) seuraamisesta ja hoidon aloituskriteereistä.
Seuranta ja hoito
Ikä TSH-arvo normaali TSH-arvo suurentunut
Vastasyntynyt Seuranta 12 kuukauden iässäToiminta kuten muilla vastasyntyneillä
12 kuukautta Seuranta kahden vuoden välein läpi elämän Vapaan tyroksiinin (T4V) määritys
  • Jos T4V:n arvo on pieni, aloita tyroksiinikorvaushoito
  • Jos kasvuikäisen TSH arvo on yli 10 mU/l ja oireet viittaavat hypotyreoosiin, aloita tyroksiinikorvaushoito vaikka T4V-arvo olisikin normaali
  • Jos T4V:n arvo on normaali ja TSH-arvo yli 10 mU/l mutta hypotyreoosiin viittaavia oireita ei ole, määritä TSH, T4V ja tyreoideaperoksidaasivasta-aineet kuuden kuukauden välein
  • Jos T4V:n arvo on normaali ja TSH 6–10 mU/l, tarkista TSH, T4V ja tyreoideaperoksidaasivasta-aineet vuosittain

Kasvu ja ravitsemus

Sydäntaudit

Synnynnäiset sydänviat

Muut sydänviat

Suolistosairaudet

Synnynnäiset kehityshäiriöt

Taulukko 3. Suolistoanomalioiden esiintyvyys Downin oireyhtymässä (DO) ja koko väestössä.
Esiintyvyys (/1 000)
Suolistoanomalia DO Väestö Riskin moninkertaisuus
Esofagusatresia ja trakeoesofagiaalinen fisteli 6.9 0.26 26
Duodenaaliatresia 46.0 0.17 264
Rengashaima14.2 0.03 430
Hirschsprungin tauti 13.8 0.14 100
Malrotaatio 15.2 0.34 45
Sappitieatresia 0.69 0.09 8
Morgagnin tyrä 1.38 0.01 245
Anusatresia 18.8 0.65 34
Ektooppinen anus 11.1 0.1767

Hankinnaiset gastrointestinaaliongelmat

Keliakia

Ummetus

Gastroesofagiaalinen refluksi ja muut dysmotiliteettiongelmat

Epilepsia

Immunologiset erityistilanteet ja -ongelmat

Soluvälitteinen immuniteetti

Vasta-ainevälitteinen immuniteetti

Veritaudit

Suun sairaudet ja hammashoito

Näkö ja silmäongelmat

Kuulovamma

Kuulovamman kuntoutus

  • Kuulon kuntoutuksessa noudatetaan samoja käytäntöjä kuin muiden kuulovammaisten lasten kuntoutuksessa.
  • Kuulokojeen lisäksi suunnitellaan
    • tarvittavien apuvälineiden käyttö
    • kuntoutusohjaus
    • puheterapia
    • tukiviittomien tai viitotun puheen opetus
    • sopeutumisvalmennus ja
    • kuulovammaisiin erikoistuneen opettajan antama eritysopetus.
  • Kielellisen kommunikaation kehittymisen kannalta lieväkin kuulovamma aiheuttaa kehitysvammaiselle merkittävän haitan.
    • Downin oireyhtymässä mahdollisuudet kompensoida aistivamma ovat normaalia heikommat, mikä lisää haitan suuruutta.
    • Kuulon lievä heikkeneminen voidaan tulkita myös itsepäisyydeksi tai vuorovaikutustaitojen ongelmaksi.

Ulko- ja välikorvaviat

  • Downin oireyhtymässä korvakäytävä on rakenteellisesti ahdas ja helposti vahan tukkima, mikä vaikeuttaa näkyvyyttä.
    • Erikoislääkärin tutkimus on aina aiheellinen, ellei hoitava lääkäri pysty varmistumaan tärykalvon liikkuvuudesta.
  • Tässä potilasryhmässä esiintyy välikorvavikoina
    • toistuvia korvatulehduksia,
    • liimakorvatautia,
    • tulehdusten jälkitiloja ja
    • kuuloluuketjun poikkeavuuksia.
  • Liimakorva on oireeton ja lähikuulo on siinä normaali.
    • Sosiaalisesti taitavalla lapsella kuulon heikkenemistä ei aina huomata lähipiirissäkään.
    • Liimakorvan vuoksi tehdyn tympanostomian jälkeen on tehtävä kuulontutkimus, jotta välikorvan luiden poikkeavuus ja siitä johtuva välikorvavika voidaan sulkea pois.

Unenaikaiset hengityshäiriöt

Ortopediset erityisongelmat

Lonkka

Polvi

Kaularanka

Gynekologiset erityispiirteet

Dementia

Oirekuva

Dementian tunnistaminen

  • Jotta dementiasta tai muista syistä johtuva kognitiivinen heikentyminen huomattaisiin, olisi hyvä, jos ainakin suhteellisen lievästi kehitysvammaisille tehtäisiin 25–30-vuotiaana muodollinen psykologinen tai neuropsykologinen testaus perustason selvittämiseksi.
  • Omatoimisuuden, työtaitojen ja harrastusten kattava ja toistuva kuvaaminen aikuisiällä helpottaa dementian varhaista havaitsemista.
  • Dementian seulontaan ja toteamiseen Downin oireyhtymässä ei ole yhteisesti sovittuja ja yleisesti käytettyjä menetelmiä «Yhteisesti sovittuja menetelmiä dementian seulontaan ja toteamiseen Down-henkilöillä ei ole esitetty.»D.

Etiologiset tutkimukset

Hoito

Psykiatria

Psykiatristen sairauksien erityispiirteitä

Hoito

Kuntoutus

Yksilökuntoutus

Suomalaisen Lääkäriseuran Duodecimin ja Suomen Kehitysvammalääkärit - Finlands läkare för utvecklingsstörda ry:n asettama työryhmä

Downin oireyhtymä -suosituksen historiatiedot «Downin oireyhtymä, Käypä hoito -suosituksen historiatiedot»3

Puheenjohtaja

Markus Kaski, LKT, lastentautien erikoislääkäri, kehitysvammalääketieteen erityispätevyys, johtaja-ylilääkäri; Rinnekoti-Säätiö

Jäsenet:

Seija Aaltonen, LT, psykiatrian erikoislääkäri, erityishuoltopiirin johtaja, ylilääkäri; Varsinais-Suomen erityishuoltopiirin kuntayhtymä

Hannu Heiskala, lastenneurologian dosentti, ylilääkäri, lastenneurologian poliklinikat, lastenneurologian klinikkaryhmä; HYKS

Lea Hyvärinen, kuntoutustieteiden professori, Dortmundin teknillinen yliopisto ja kehitysneuropsykologian dosentti, Helsingin yliopisto

Jorma Komulainen, LT, lastentautien ja lastenendokrinologian erikoislääkäri, ylilääkäri, Terveyden ja hyvinvoinnin laitos, (Käypä hoito -toimittaja)

Tuomo Määttä, LL, yleislääketieteen erikoislääkäri, kehitysvammalääketieteen erityispätevyys, Kainuun maakunta -kuntayhtymä

Anna-Leena Noponen, LKT, lasten kardiologian erikoislääkäri (eläkk.) HUS:n lasten ja nuorten sairaala

Matti Verkasalo, LKT, lasten gastroenterologian erikoislääkäri; HUS:n lasten ja nuorten sairaala

Maija Wilska, LL, lastentautien erikoislääkäri, kehitysvammalääketieteen erikoispätevyys (eläkk.), Rinnekoti-Säätiö

Asiantuntijat:

Sirpa Ala-Mello, dosentti, perinnöllisyyslääketieteen erikoislääkäri, Rinnekoti-Säätiö

Anne Hiiri, HLT, EHL, terveydenhuollon erikoishammaslääkäri, Kotkan kaupunki.

Arja Sakki, gynekologian erikoislääkäri, Rinnekoti-Säätiö

Sidonnaisuudet

Seija Aaltonen: Ei sidonnaisuuksia

Hannu Heiskala: Antanut asiantuntija-apua lääkealan yritykselle ja saanut siitä palkkion (Eisai ja UCB). Saanut palkkion osallistumisesta lääkealan yrityksen järjestämän koulutustilaisuuden suunnitteluun ja ollut toistuvasti kutsuttuna luennoitsijana lääkealan yrityksen järjestämässä tilaisuudessa ja saanut luentopalkkion (UCB).

Lea Hyvärinen: Toiminut Kelan asiantuntijalääkärinä

Markus Kaski: Ei sidonnaisuuksia

Jorma Komulainen: Ks. www.kaypahoito.fi «http://www.kaypahoito.fi»6/ Yhteystiedot / Toimitus / Lisätiedot

Tuomo Määttä: Ei sidonnaisuuksia

Anna-Leena Noponen: Ei sidonnaisuuksia

Matti Verkasalo: Ei sidonnaisuuksia

Maija Wilska: Ei sidonnaisuuksia

Vastuun rajaus

Käypä hoito -suositukset ovat parhaiden asiantuntijoiden laatimia yhteenvetoja yksittäisten sairauksien diagnostiikan ja hoidon vaikuttavuudesta. Ne eivät korvaa lääkärin tai muun terveydenhuollon ammattilaisen omaa arviota yksittäisen potilaan parhaasta mahdollisesta diagnostiikasta, hoidosta ja kuntoutuksesta hoitopäätöksiä tehtäessä.

Tiedonhakukäytäntö

Käypä hoito -suositukset tehdään näyttöön perustuvan lääketieteen (EBM) periaatteilla. Lue lisää artikkelista nix01853

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