Article

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

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: 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.
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