Wexler Isaiah D, Abu-Libdeh Abdulsalam, Kastiel Yael, Nimrodi Alon, Kerem Eitan, Tenenbaum Ariel
Department of Pediatrics, Hadassah University Medical Center, Mount Scopus Campus, Jerusalem, Israel.
Isr Med Assoc J. 2009 Nov;11(11):655-9.
Down syndrome is one of the most common chromosomal abnormalities. Children and adults with DS have significant medical problems and require life-long medical follow-up.
To determine the adequacy of medical surveillance of individuals with DS as recommended by the American Academy of Pediatrics.
The study was conducted at a multidisciplinary center specializing in the care of DS during the period 2004-2006. At their first visit to the Center, caregivers of individuals with DS were questioned about the medical status of their child including previous evaluations. Medical records brought in by the parents were reviewed.
The caregivers of 150 individuals with DS (age ranging from newborn to 48-years-old, median age 5 years) were interviewed and the medical records were reviewed. The prevalence of specific medical problems differed between our population and the reported prevalence from other surveys. For example, 39.3% of our population had documented auditory deficits while the reported prevalence is 75%. For gastrointestinal and thyroid disease, the prevalence was higher in the studied population than that reported in the literature. In terms of compliance with the AAP recommendations, most children (94%) underwent echocardiography, but only 42.7% and 63.3% had been tested for auditory or visual acuity respectively. Only 36.3% over the age of 3 years had cervical spine films.
Many individuals with DS are not receiving appropriate medical follow-up and the consequences of inadequate surveillance can be serious.
唐氏综合征是最常见的染色体异常疾病之一。唐氏综合征患儿及成人存在严重的健康问题，需要终身医学随访。
根据美国儿科学会的建议，确定唐氏综合征患者医疗监测的充分性。
该研究于2004年至2006年期间在一个专门诊治唐氏综合征的多学科中心进行。唐氏综合征患者的照料者首次就诊于该中心时，会被询问其孩子的健康状况，包括既往评估情况。同时会对家长带来的病历进行审查。
对150名唐氏综合征患者（年龄从新生儿到48岁，中位年龄5岁）的照料者进行了访谈，并审查了病历。我们研究人群中特定健康问题的患病率与其他调查报道的患病率有所不同。例如，我们研究人群中有39.3%的人有听力缺陷记录，而报道的患病率为75%。对于胃肠道和甲状腺疾病，研究人群中的患病率高于文献报道。在遵循美国儿科学会建议方面，大多数儿童（94%）接受了超声心动图检查，但分别只有42.7%和63.3%的儿童进行了听力或视力测试。3岁以上儿童中只有36.3%进行了颈椎X光检查。
许多唐氏综合征患者未得到适当的医学随访，监测不足可能会导致严重后果。
