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: 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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ABSTRACT: Background Due to significant medical improvements, persons with Down syndrome now live well into adulthood. Consequently, primary care for adults with Down syndrome needs to incorporate routine care with screening for condition-specific comorbidities. This study seeks to evaluate the adherence of primary care physicians to age- and condition-specific preventive care in a cohort of adults with Down syndrome. Methods In this retrospective observational cohort study, preventive screening was evaluated in patients with Down syndrome aged 18-45 years who received primary care in an academic medical centre from 2000 to 2008. Comparisons were made based on the field of patients' primary care providers (Family or Internal Medicine). Results This cohort included 62 patients, median index age = 33 years. Forty per cent of patients received primary care by Family Physicians, with 60% seen by Internal Medicine practices. Patient demographics, comorbidities and overall screening patterns were similar between provider groups. Despite near universal screening for obesity and hypothyroidism, adherence to preventive care recommendations was otherwise inconsistent. Screening was 'moderate' (50-80%) for cardiac anomalies, reproductive health, dentition, and the combined measure of behaviour, psychological, or memory abnormalities. Less than 50% of patients were evaluated for obstructive sleep apnea, atlanto-axial instability, hearing loss or vision loss. Conclusions We observed inconsistent preventive care in adults with Down syndrome over this 8.5-year study. This is concerning, given that the adverse effects of many of these conditions can be ameliorated if discovered in a timely fashion. Further studies must evaluate the implications of screening practices and more timely identification of comorbidities on clinical outcomes.Journal of Intellectual Disability Research 03/2012; · 1.88 Impact Factor
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ABSTRACT: Purpose of review Individuals with Down syndrome have had significant increase in longevity but may experience neurologic compromise and diminished function during their life span. This review provides the clinician with current information to guide their evaluations in terms of medical, neurologic and musculoskeletal disorder, especially cervical spine instability. Recent findings Musculoskeletal disorders that include hip, knee and cervical spine instability are significant factors that influence the individual's activity level and quality of life. Radiographs of the cervical spine of individuals with Down syndrome are difficult to interpret and should not be compared with radiographic standards based on the non-Down population. Summary While medical conditions are well managed in this population, controversy remains in regards to the evaluation and treatment of musculoskeletal disorders. This review alerts the clinician to potential life-long problems that may impact on the welfare and functional status of the individual with Down syndrome. Diminished function requires increasingly complex nursing care as this population ages. Interventions are directed toward early detection of problems and preservation of function.Current Opinion in Orthopaedics 01/2006; 17(17):260-263260.