Downs syndrom

Arvelige og medfødte tilstander

Pasientinformasjon

Pediatri

Kliniske kapitler

Håndboken

Norsk Elektronisk Legehåndbok

Hva er Downs syndrom?

Årsak

Symptomer og tegn

Diagnosen

Behandling

Prognose

Vil du vite mer?

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Tsou AY, Bulova P, Capone G, et al. Medical Care of Adults With Down Syndrome: A Clinical Guideline. JAMA 2020; 324: 1543-66. pmid:33079159 

Aasen HM, Solberg B, Stangenes KM, Nøhr EA, Eggebø TM. Trisomy 21 - incidence, diagnostics and pregnancy terminations 1999-2018. Tidsskr Nor Laegeforen. 2021 Dec 10;141(18). English, Norwegian. PMID: 34911275. 

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Stangenes KM et al. Økning i antall svangerskap med Downs syndrom. Folkehelseinstituttet. Publisert 09.11.2021 

Videla L, Benejam B, Pegueroles J et al. Longitudinal Clinical and Cognitive Changes Along the Alzheimer Disease Continuum in Down Syndrome. JAMA Netw Open. 2022 Aug 1;5(8):e2225573. PMID: 35930282. 

Neuhäuser M, Krackow S. Adaptive-filtering of trisomy 21: risk of Downs syndrome depends on family size and age of previous child. Naturwissenschaften 2007; 94: 117-21. 

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Giersch ABS. Congenital cytogenetic abnormalities. UpToDate, last updated Sep 27, 2019. 

Bull MJ; Committee on Genetics, American Academy of Pediatrics. Health supervision for children with Downs syndrome. Pediatrics. 2011;128:393-406. 

--&gt; https://emedicine.medscape.com/article/943216-overview

Mundakel GT. Down Syndrome. Medscape. Last updated Apr 30, 2018. 

Creavin AL, Brown RD. Ophthalmic abnormalities in children with Downs syndrome. J Pediatr Ophthalmol Strabismus 2009; 46: 76. pmid:19343968 

Madan V, Williams J, Lear JT. Dermatological manifestations of Downs's syndrome. Clin Exp Dermatol 2006; 31: 623. pmid:16901300 

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Irving CA, Chaudhari MP. Cardiovascular abnormalities in Downs's syndrome: spectrum, management and survival over 22 years. Arch Dis Child 2012; 97: 326. pmid:21835834 

Dennis J, Archer N, Ellis J, Marder L. Recognising heart disease in children with Downs syndrome. Arch Dis Child Educ Pract Ed 2010; 95: 98. pmid:20688855 

--&gt; https://www.helsedirektoratet.no/tema/bioteknologi/fosterdiagnostikk/fosterdiagnostikk-informasjon-om-regelverk-virksomhetsgodkjenning-og-oversikt-over-godkjente-virksomheter

Helsedirektoratet. Fosterdiagnostikk - informasjon om regelverk, virksomhetsgodkjenning og oversikt over godkjente virksomheter. Sist faglig oppdatert: 12.11.2021. 

Shott SR, Joseph A, Heithaus D. Hearing loss in children with Downs syndrome. Int J Pediatr Otorhinolaryngol 2001; 61: 199-205. pmid:11700189 

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Hithersay R, Startin CM, Hamburg S, et al. Association of Dementia With Mortality Among Adults With Down Syndrome Older Than 35 Years. JAMA Neurol 2018. doi:10.1001/jamaneurol.2018.3616 

Van Cleve SN, Cannon S, Cohen WI. Part II: clinical practice guidelines for adolescents and young adults with Downs syndrome: 12 to 21 years. J Pediatr Health Care 2006;20:198-205. 

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Mårild K, Stephansson O, Grahnquist L et al. Downs syndrome is associated with elevated risk of celiac disease: a nationwide case-control study. J Pediatr 2013; 163(1): 237. pmid:23399451 

RHABU, Regionsenter for habiliteringstjenesten for barn og unge. Retningslinje for oppfølging av barn og unge med Downs syndrom. Feb 2017 

Lott IT, Dierssen M. Cognitive deficits and associated neurological complications in individuals with Downs's syndrome. Lancet Neurol 2010; 9: 623. pmid:20494326 