Minerva pediatrica · 2012
[The Cri du Chat syndrome: a study on the quality of care].
Аннотация на английскомСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Cerruti Mainardi P, Spunton M, Arcuri V, Pastore G, Pedrinazzi M, Nardi S, Castronovo C, Alessi D, Guala A
Аннотация
AIM: The Cri du Chat syndrome (SCdC / [OMIM #123450]) is a rare disease characterized by the deletion of the short arm of chromosome 5. The typical clinical features are the cat-like cry, microcephaly, a distinct facial phenotype and a severe psychomotor and mental retardation. The aim of this study was to provide an analysis on the data concerning the life quality and families assistance to whom have a child affected by Cri du Chat syndrome such as: the life's change of parents after the child's birth, the frequency of treatments, the collaboration between family and center of reference.
METHODS: We have also analyzed the improvement obtained, the type of school attended, the aide and the time spent at home in postprimary education. Through a questionnaire sent to 100 families, we have been picked up information on 76 patients.
RESULTS: These families have to adapt to the reality of a child with a rare genetic disorder for which there are no pharmacological or surgical therapies.
CONCLUSION: Therefore, it seems important to give information and tips for dealing with the disease and the early start of rehabilitation and educational therapy.
METHODS: We have also analyzed the improvement obtained, the type of school attended, the aide and the time spent at home in postprimary education. Through a questionnaire sent to 100 families, we have been picked up information on 76 patients.
RESULTS: These families have to adapt to the reality of a child with a rare genetic disorder for which there are no pharmacological or surgical therapies.
CONCLUSION: Therefore, it seems important to give information and tips for dealing with the disease and the early start of rehabilitation and educational therapy.