Visootsak Jeannie, Huddleston Lillie, Buterbaugh Allison, Perkins Adrienne, Sherman Stephanie, Hunter Jessica
1Department of Human Genetics,Emory University,Atlanta,Georgia,United States of America.
2Department of Pediatrics,Emory University,Atlanta,Georgia,United States of America.
Cardiol Young. 2016 Feb;26(2):250-6. doi: 10.1017/S1047951115000062. Epub 2015 Feb 16.
To evaluate the family psycho-social outcomes of children with Down syndrome and atrioventricular septal defect, and examine the impact of these variables on the child's neurodevelopmental outcome.
This was a cross-sectional study that consisted of 57 children with Down syndrome - 20 cases and 37 controls - of ~12-14 months of age. In both groups, we assessed the development of the child, the quality of the child's home environment, and parenting stress.
Compared with the Down syndrome without CHD group, the atrioventricular septal defect group revealed lower scores in all developmental domains, less optimal home environments, and higher parental stress. Significant differences in development were seen in the areas of cognition (p=0.04), expressive language (p=0.05), and gross motor (p<0.01). The Home Observation for Measurement of the Environment revealed significant differences in emotional and verbal responsiveness of the mother between the two groups. The Parenting Stress Index revealed that the Down syndrome with atrioventricular septal defect group had a significantly higher child demandingness subdomain scores compared with the Down syndrome without CHD group.
The diagnosis of a CHD in addition to the diagnosis of Down syndrome may provide additional stress to the child and parents, elevating parental concern and disrupting family dynamics, resulting in further neurodevelopmental deficits. Finding that parental stress and home environment may play a role in the neurodevelopmental outcomes may prompt new family-directed interventions and anticipatory guidance for the families of children with Down syndrome who have a CHD.
评估唐氏综合征合并房室间隔缺损患儿的家庭心理社会结局,并探讨这些变量对患儿神经发育结局的影响。
这是一项横断面研究,纳入了57名年龄约12 - 14个月的唐氏综合征患儿,其中20例为病例组,37例为对照组。在两组中,我们评估了患儿的发育情况、家庭环境质量和育儿压力。
与唐氏综合征无先天性心脏病组相比,房室间隔缺损组在所有发育领域的得分较低,家庭环境不太理想,父母压力较高。在认知(p = 0.04)、表达性语言(p = 0.05)和大运动(p < 0.01)方面观察到发育存在显著差异。环境测量家庭观察显示两组母亲在情感和言语反应性方面存在显著差异。育儿压力指数显示,唐氏综合征合并房室间隔缺损组与唐氏综合征无先天性心脏病组相比,儿童需求子领域得分显著更高。
除唐氏综合征诊断外,先天性心脏病的诊断可能给患儿及其父母带来额外压力,增加父母的担忧并扰乱家庭动态,导致进一步的神经发育缺陷。发现父母压力和家庭环境可能在神经发育结局中起作用,这可能促使针对患有先天性心脏病的唐氏综合征患儿家庭开展新的以家庭为导向的干预措施和预期指导。