Long-term follow-up in children born with congenital diaphragmatic hernia

Sammanfattning: Congenital diaphragmatic hernia (CDH) is a developmental defect which occurs in approximately 1 per 3000 births. The incomplete development of the diaphragm early in gestation allows abdominal viscera to herniate into the thoracic cavity. The malformation differs in size and can occur on either one or both sides, but most commonly on the left. Normal lung development is impaired and the lungs become hypoplastic with an impaired lung structure, often causing acute respiratory distress shortly after birth. Children born with CDH, as well as their parents, very often experience a dramatic first period in life. There is also a large difference in the length of hospital stay and the initial care needed; where the size of the diaphragmatic defect seems to be crucial. The survival rate has increased over the last few decades and about 85% of all children born with CDH are discharged from hospital to their homes. Children born with CDH who survive often suffer from morbidities related to pulmonary hypoplasia and associated anomalies, but also from the sequelae resulting from the intensive care they were exposed to. The aim of this thesis was to study the long-term outcome of children and adolescents born with CDH in terms of perceived health, health-related quality of life (HRQoL) and psychosocial function. Further, the aim was to assess parental stress in parents of children born with CDH. All the studies were cross-sectional. In Study I, all children born with CDH between 1990 and 2009 who had been treated at Sankt Görans and Astrid Lindgren Children’s hospitals were asked to participate. Data from medical records were supplemented by a questionnaire consisting of questions regarding perceived physical function. Children born with CDH reported themselves as experiencing greater problems with asthma, developmental delay, seizure disorder, poor vision, and scoliosis compared with normal Swedish children. They also described a sense of having less strength and becoming breathless more often than their healthy friends. Symptoms of gastroesophageal reflux and abdominal pain were also reported. The symptoms increased with the severity of the malformation. In Study II, parents of children born with CDH between 2005 and 2009 received The Swedish Parenthood Stress Questionnaire (SPSQ), which was supplemented by data from medical records. Parents of children born with CDH, who had been supported by ECMO or who had experienced a long hospital stay, showed a higher overall level of parental stress. Mothers scored an overall higher parental stress level compared with fathers. A prenatal diagnosis of CDH or lower parental educational level was followed with significantly higher parental stress on some of the factors. In Study III the KIDSCREEN-52 questionnaire was used for measuring HRQoL in children born with CDH between 1993 and 2003 and, in addition, a detailed review of medical records was performed. Children born with CDH considered themselves to have an equally good HRQoL compared with a healthy population of Swedish children. There were only a few significant HRQoL differences within the group of children with CDH, although several median scores in ECMO-treated patients were somewhat lower. Correlations between child and parent scores on HRQoL were low. In Study IV the Child Behavior Checklist or Adult Self-Report questionnaires were sent to children and adolescents born with CDH between 1990 and 2009 in order to assess psychosocial functioning. All the parents of children aged 1.5-5 years of age and 90% of parents of children aged 6-18 years of age reported a normal range on the syndrome scale. All young adults achieved a normal score on the syndrome scale. Eighty-five percent had normal school achievement, 79% had normal social scores and 40% had normal activity levels. Significantly fewer boys (23%) were in the normal activity range compared with 67% of girls. In conclusion, the long-term outcome in children and adolescents born with CDH is, in general, good. There seem, however, to be differences within the group, and children who are more affected and have a more severe form of CDH, as well as their families, need extensive follow-up and support.