Guidelines for the medical management of Irish children and adolescents with Down syndrome

Department of Paediatrics, The National Children's Hospital, AMNCH, Tallaght, Dublin.
Irish medical journal (Impact Factor: 0.51). 03/2005; 98(2):48-52.
Source: PubMed


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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    • "Down syndrome is the most common genetic cause of developmental disability in Ireland with a prevalence of one in 546 live births,1 the highest in Europe. An Irish cross-sectional study of 394 children and adolescents with Down syndrome found that 50% of the children had ophthalmic pathology, high myopia most commonly (24.9%) with 4.6% having cataracts.3 "
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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. DOI:10.1136/bjo.2007.134619 · 2.98 Impact Factor
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    • "Like vision problems, oral health problems (dental caries, gingivitis, and periodontal disease) are among the top ten secondary conditions among individuals with ID that cause limitations in their daily activities. Allen et al., 1999; Warburg, 2001b; van Splunder et al., 2003a, 2004; Murphy et al., 2005] "
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    ABSTRACT: Over the past 20 years, there has been an increased emphasis on health promotion, including prevention activities related to vision and oral health, for the general population, but not for individuals with intellectual disability (ID). This review explores what is known about the prevalence of vision problems and oral health conditions among individuals with ID, presents a rationale for the increased prevalence of these conditions in the context of service utilization, and examines the limitations of the available research. Available data reveal a wide range of prevalence estimates for vision problems and oral health conditions, but all suggest that these conditions are more prevalent among individuals with ID compared with the general population, and disparities exist in the receipt of preventive and early treatment for these conditions for individuals with ID. Recommendations for health improvement in these areas include better health planning and monitoring through standardized population-based data collection and reporting and increased emphasis on health promotion activities and early treatment in the healthcare system.
    Mental Retardation and Developmental Disabilities Research Reviews 01/2006; 12(1):28-40. DOI:10.1002/mrdd.20096 · 3.80 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.
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