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Helse og sykdom hos voksne med Downs syndrom
Engelsk titel: Health and disease in adults with Down syndrome Läs online Författare: Malt, Eva Albertsen ; Dahl, Renate Charlotte ; Haugsand, Trine Marie ; Ulvestad, Ingebjörg H ; Emilsen, Nina Merete ; Hansen, Börre ; Cardenas, Yon Eduin Galezo ; Sköld, Rolf Olof ; Thorsen, Anne Tove Berge ; Davidsen, Eva Merete Male Språk: Nor Antal referenser: 48 Dokumenttyp: Översikt UI-nummer: 13047117

Tidskrift

Tidsskrift for Den Norske Laegeforening 2013;133(3)290-4 ISSN 0029-2001 E-ISSN 0807-7096 KIBs bestånd av denna tidskrift Denna tidskrift är expertgranskad (Peer-Reviewed)

Sammanfattning

BACKGROUND The increasing life expectancy of persons with Down syndrome calls for a knowledge of conditions that frequently occur in adults with the syndrome and of which health personnel should be particularly aware. METHOD The article is based on a literature search in PubMed and the authors' clinical experience with the patient group. RESULTS Altered immune system function, muscular hypotonia, dysmorphic otolaryngologic features and premature ageing contribute to health problems. The group is susceptible to infections, particularly of the respiratory and the gastrointestinal tract. Congenital heart defects may give rise to symptoms, also in adults. Many also develop mitral valve disease, including those without congenital heart defects. Hypothyroidism develops in up to half, and coeliac disease in one of five. Obstructive sleep apnoea syndrome occurs in approximately half. Sensorineural hearing loss and cataract may occur before the age of 30. Atlantoaxial instability occurs, and radiological examination of the neck must take place before intervention under general anaesthesia. Behavioural changes with loss of skills, withdrawal, psychomotoric retardation and mutism occur frequently from the age of 30 and may be symptoms of mental illness or the onset of Alzheimer’s dementia. INTERPRETATION Adults with Down syndrome need to undergo regular medical examinations, and we recommend an annual check-up with the primary doctor. Screening for hearing loss and cataract is also recommended every three and five years, respectively. In the event of concomitant symptoms, particularly related to neurological and psychiatric conditions, the patient can be referred to the habilitation service.