Kapoor Seema, Bhayana Swati, Singh Ankur, Kishore Jugal
Department of Pediatrics, Maulana Azad Medical College, New Delhi, 110002, India,
Indian J Pediatr. 2014 Dec;81(12):1302-6. doi: 10.1007/s12098-014-1389-4. Epub 2014 May 14.
To study factors leading to mortality or hospitalization in children with Down syndrome and its effect on the quality of life of their parents.
The study was retrospective questionnaire based study conducted over 2 mo period at a genetic outpatient setting of a teaching medical college hospital. Seventy children with suggestive phenotype and confirmed Trisomy 21 on karyotyping were included. An essential criterion was a reasonable understanding of the language to construct history. The primary outcome variable evaluated was the co-morbidity in these children which led to either hospitalization or mortality. Pretested and validated questionnaire was given to parents/primary caregiver and data was constructed with help of previous hospital records or from verbal autopsy in patients who had lost all papers.
The mean age of Down syndrome (DS) patients in study group was 5.09 ± 2.5 y. All cases were diagnosed postnatally at a mean age of 5 y. The major reasons for hospitalization were congenital heart disease (cyanotic/acyanotic), multiple episodes of pneumonia and wheeze associated with lower respiratory infection. Cardiovascular failure was the major reason for mortality. Majority of parents in the study (57.5 %) agreed that there were changes requiring adaptation after the birth of a DS baby while 22.5 % reported this effort to cost them heavily and 3 % quoted that this had changed the life drastically.
Cardiorespiratory system is major cause of morbidity/mortality in cases with DS. Majority of parents accepted the challenge of rearing a DS child but with adaptation.
研究导致唐氏综合征患儿死亡或住院的因素及其对患儿父母生活质量的影响。
本研究为回顾性问卷调查研究,在一所教学医学院附属医院的遗传门诊进行,为期2个月。纳入70例具有提示性表型且经核型分析确诊为21三体综合征的患儿。一个基本标准是对构建病史的语言有合理的理解能力。评估的主要结局变量是这些患儿中导致住院或死亡的合并症。向父母/主要照顾者发放经过预测试和验证的问卷,并借助以前的医院记录或在所有病历丢失的患者中通过口头尸检来构建数据。
研究组唐氏综合征(DS)患者的平均年龄为5.09±2.5岁。所有病例均在出生后平均5岁时被诊断。住院的主要原因是先天性心脏病(青紫型/非青紫型)、与下呼吸道感染相关的多次肺炎和喘息发作。心力衰竭是死亡的主要原因。研究中的大多数父母(57.5%)同意在DS患儿出生后有需要适应的变化,而22.5%报告这种努力让他们付出了沉重代价,3%表示这极大地改变了生活。
心肺系统是DS患儿发病/死亡的主要原因。大多数父母接受了抚养DS患儿的挑战,但需要适应。