Guidelines for the medical management of Irish children and adolescents with Down syndrome.
ABSTRACT Down syndrome (DS) is the most common chromosomal cause of developmental disability in Ireland. Children with DS have a high incidence of associated treatable medical disorders where early intervention carries a better outcome. Currently there are no agreed protocols for the screening and management of children and adults with DS in Ireland. A cross-sectional study of 394 children and adolescents was undertaken in the Eastern Regional Health Authority (ERHA) to assess the medical needs of children and adolescents with DS, in order to develop medical management guidelines. This study provides evidence-based data that children and adolescents with DS have a high incidence of treatable medical disorders, which supports the need for the medical management guidelines presented.
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ABSTRACT: To report the visual and refractive outcome and complications in children with Down syndrome undergoing cataract extraction. The case notes of 18 infants and children with lens opacities and Down syndrome who underwent cataract extraction between January 1981 and August 2006 were reviewed. Over the 25-year study period, 7% (33 eyes) of paediatric eyes undergoing cataract extraction had Down syndrome. The average follow-up time was 11.2 (SD 7.5) years with a range of 2.5 months to 25 years. 25 were congenital, and eight were developmental lens opacities. 40% of patients attained a postoperative BCVA between 6/9 and 6/18. There was a large myopic shift of -7.96 (4.7) D for aphakes and -8.06 (7.4) D for pseudophakes with an average increase in axial length of 3.58 (3.14) mm. There was a 30% incidence of posterior capsular opacification (PCO) overall, 38% in eyes without a primary posterior capsulotomy. Five eyes developed aphakic glaucoma, one eventually necessitating an enucleation. Two patients had retinal detachments on follow-up. Cataract extraction in our population of children with Down syndrome is a safe and effective procedure with a very encouraging visual outcome.The British journal of ophthalmology 08/2008; 92(8):1112-6. · 2.92 Impact Factor
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ABSTRACT: Medical problems are described in a population of persons with Down syndrome. Health surveillance is compared to the recommendations of national guidelines. Case records from the specialised and primary healthcare and disability services were analysed. A wide spectrum of age-specific medical and surgical problems was described. Congenital heart defects and middle ear infections were mostly experienced by younger people, while thyroid disease, epilepsy, and Alzheimer's disease were frequent among older people. Psychiatric disorders and behavioural problems were frequent in all age groups. Health surveillance remained insufficient, despite the guidelines available. A joint effort by healthcare and disability service providers is required to ensure that the medical needs of people with Down syndrome are adequately met across their entire lifespan. An active provision of healthcare and monitoring for this vulnerable group is needed.Journal of Intellectual & Developmental Disability 06/2011; 36(2):118-26. · 1.02 Impact Factor
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ABSTRACT: Downi sündroom (DS) on inimese sagedasim kromosoomihaigus, mis põhjustab vaimse arengu maha - jäämust. Tänu meditsiini arengule elab tänapäeval üle 50% DSiga isikutest kauem kui 50 eluaastat. Samas pole DS-isikuid nende põhidiagnoosi tõttu sageli piisavalt põhjalikult jälgitud: sellele viitab kaudselt meie uuritud DS-isikute väärarendite ja kaasnevate haiguste väiksem sagedus kui teistel autoritel. Käesolev juhend on koostatud publitseeri tud juhendite alusel eesmärgiga anda juhiseid perearstidele ja teistele spetsialistidele ning parandada seega Eestis elavatele DS-isikutele pakutavat meditsiinilist abi. Juhendi on läbi arutanud ja heaks kiitnud Eesti Inimesegeneetika Ühingu ja Eesti Lastearstide Seltsi juhatus.