Pregnancy and postpartum following a prenatal diagnosis of fetal thoracoabdominal malformation: the parental perspective.

PURPOSE: The study's aim was to evaluate how information related to a prenatal diagnosis of fetal malformation could modify parenthood experience descriptions during pregnancy and after the child's birth. METHODS: A longitudinal case-control clinical study was conducted. Data on parenthood experience descriptions collected using a validated semantic differential technique during pregnancy and after the child's birth were compared between seven couples of parents receiving a prenatal diagnosis of fetal malformation and seven couples without any fetal diagnosis. RESULTS: Our results show that during pregnancy parents in the clinical group describe themselves as more fragile, passive, and timid [p=0.007] than those in the control group. On the other hand, after the child's birth, there are no significant differences between groups. CONCLUSIONS: Data are discussed with reference to better knowledge of the psychological dynamics involved in becoming a parent and to rational planning of support for parents receiving a diagnosis of fetal malformation.

Does website-based information add any value in counseling mothers expecting a baby with severe congenital diaphragmatic hernia?

OBJECTIVE: We aimed to measure whether website-provided information about congenital diaphragmatic hernia (CDH) and fetal therapy for severe cases provides added value compared with clinical counseling of parents. METHODS: This is a single center study in 102 couples who earlier opted for fetoscopic endoluminal tracheal occlusion (FETO) because of isolated severe CDH. They were asked to fill out an anonymized web-based survey of 12 questions. Then, they were offered access to information on the web pages of the randomized Tracheal Occlusion to Accelerate Lung Growth (TOTAL) trial. One week later, their appreciation was measured again by a second questionnaire. RESULTS: Eighty-two (80%) parents completed the first questionnaire, and 48 (47%) completed the entire survey. Several items became more clear to the parents after reading the website, such as the length of hospital stay (23.2% prior to web information, 60.4% after; P = 0.004), maternal risk, or the requirement of fetal anesthesia for FETO (43.9% resp. 79.2%; P = <0.001). CONCLUSION: Complementing prenatal counseling on CDH and FETO by standardized information via website is perceived by parents as of added value. Maternal risks and the need for fetal medication need more clarification during the verbal counseling prior to prenatal interventions.

Health-related quality of life and its determinants in children with a congenital diaphragmatic hernia.

BACKGROUND: The development of new therapeutics has led to progress in the early management of congenital diaphragmatic hernia (CDH) in pediatric intensive care units (PICU). Little is known about the impact on the quality of life (QoL) of children and their family. The aim of this study was to assess the impact of CDH treated according to the most recent concepts and methods outlined above on child survivors' QoL and their parents' QoL. PATIENTS AND METHODS: This study incorporated a cross-sectional design performed in two PICU (Marseille, France). Families of CDH survivors born between 1999 and 2008 were eligible. The following data were recorded: socio-demographics, antenatal history and delivery, initial hospitalization history. Self-reported data were collected by mail, including current clinical problems of the children (13-symptom list), children's QoL (Kidscreen-27 questionnaire), and parents' QoL (Short-Form 36 questionnaire). Children's QoL score was compared with controls and QoL of survivors of childhood leukemia. Parent's QoL was compared with controls. Non-parametric statistics were employed. RESULTS: Forty-two families agreed to participate and questionnaires were completed by 32 of them. Twenty-one children had a current clinical problems related to CDH. All the QoL scores of CHD survivors were significantly lower compared with controls. The physical well-being dimension was significantly higher for CHD survivors compared with survivors of childhood leukemia. Gastro-esophageal reflux at discharge, antenatal diagnosis, length of stay in the PICU, and neuropsychological and respiratory issues significantly impacted QoL scores of children. The parents of CHD survivors had significantly poorer score in emotional role dimension compared with controls. CONCLUSION: The impact of CDH on QoL seems to be important and must be understood by clinicians who treat these children and their parents.

[Survey on the announcement of congenital diaphragmatic hernia by sonographers and evaluation of its prognosis]. / Enquête sur l'annonce du diagnostic et l'évaluation du pronostic des hernies de coupole diaphragmatique par les échographistes.

AIM: Congenital diaphragmatic hernia (CDH) is a rare disease (1/3000 live births). Carriers display a diaphragmatic defect responsible for an impaired pulmonary development and physiology. The aim of this study was to evaluate the information given to couples whose fetus display a CDH and the current knowledge of French sonographers about this disease. MATERIALS AND METHODS: A questionnaire was sent by email to 2000 sonographers, members of the French college of fetal ultrasonography, between May 1st and December 31st of 2010. RESULTS: 20,7 % (414) of the sonographers answered. Twenty-four percent are second line sonographers. Thirty-eight percent did not diagnose any diaphragmatic hernia in the last five years (2005-2010) and 42 % diagnosed 1 or 2 during the same period. Information concerning the prognostic remains elusive and most sonographers rapidly referred patients to prenatal diagnostic centers. Fifty-nine percent of sonographer are not aware of the existence in France of a Centre for Rare Disease for CDH. CONCLUSION: Accurate assessment of prognosis is essential to provide adequate information to couples and to help them make a decision on whether or not to perform an in utero treatment. The heterogenous results of the survey clearly show the disparities between sonographers on the type of information delivered. A better diffusion of prognostic evaluation in CDH, among sonographers is needed.

A systematic review of studies of quality of life in children and adults with selected congenital anomalies.

BACKGROUND: Few studies have assessed quality of life (QOL) for children born with major structural congenital anomalies. We aimed to review studies reporting QOL in children and adults born with selected congenital anomalies involving the digestive system. METHODS: Systematic review methods were applied to literature searches, development of the data extraction protocol, and the review process. We included studies published in English (1990-2010), which used validated instruments to assess QOL in individuals born with congenital diaphragmatic hernia, esophageal atresia, duodenal atresia or abdominal wall defects. RESULTS: Of 200 papers identified through literature searches, 111 were excluded after applying restrictions and removing duplicates. After scanning 89 abstracts, 32 full-text papers were reviewed (none on duodenal atresia), of which 18 (nine in children or adolescents and nine in adults) were included. Studies measured health-related QOL, but did not assess subjective wellbeing. Instruments used to assess health-related QOL in children varied considerably. In adults most studies used the Short Form 36. Many studies had methodological limitations, such as being from a single institution, retrospective cohorts, and low sample size. The summarized evidence suggests that health-related QOL of these children is affected by associated anomalies and ongoing morbidity resulting in lower physical functioning and general health perception. In adults, health-related QOL is comparable with the general population. CONCLUSIONS: The reviewed studies considered health status and functioning as a major determinant of QOL. More studies assessing QOL in patients with major congenital anomalies are needed, and those involving children should use age-adjusted, validated instruments to measure both health-related QOL and self-reported subjective wellbeing.

Assessing health-related quality-of-life changes in informal caregivers: an evaluation in parents of children with major congenital anomalies.

PURPOSE: Relatively few attempts to measure the effects on the health-related quality of life (HRQoL) of informal caregivers within the context of economic evaluations have been reported. This paper is an exploratory attempt to find suitable methods to assess caregivers' HRQoL, using a population of parents of children with major congenital anomalies. METHODS: A total of 306 parents of children born with either congenital anorectal malformations (ARM) or congenital diaphragmatic hernia were surveyed. They rated their current HRQoL on the EQ-VAS. After that, they rated their HRQoL again on the assumption that someone would take over their caregiving activities completely and free of charge. Finally, the parents classified their HRQoL on the EQ-5D. The caregivers' scores on the EQ-VAS and the EQ-5D were compared with scores elicited in the general population. RESULTS: Most parents indicated that their HRQoL would not change if someone else took on their caregiving activities. Some methodological issues may have influenced this outcome, such as difficulties in self-assessing HRQoL changes due to caregiving, process utility, protest answers, and difficulties in understanding the hypothetical question. The HRQoL of the parents was relatively low compared with population statistics, especially in the parents of children with ARM and in mothers. This can be illustrated by the difference between the mean EQ-5D score of the mothers aged 25-34 years of the children with ARM and that of the general population (0.83 vs. 0.93; P = 0.002). CONCLUSIONS: Significant HRQoL differences exist between parents caring for children with congenital anomalies and the general population. It would be useful to further improve our understanding of the HRQoL impact of informal caregiving, separating 'caregiving effects' from 'family effects', and distinguishing parent-child relationships from other caregiving situations. This study underlines the importance of considering caregivers, also in the context of economic evaluations. It indicates that general HRQoL measures, as used in patients, may be able to detect HRQoL effects in caregivers, which facilitates the incorporation in common economic evaluations of HRQoL effects in carers. Analysts and policy makers should be aware that if HRQoL improvement is an important aim, they should register HRQoL changes not only in patients but also in their caregivers.

When uncertainty generates more anxiety than severity: the prenatal experience with cystic adenomatoid malformation of the lung.

AIM: To assess reasons for higher levels of anxiety generated by prenatal counselling of a condition with good outcome such as cystic adenomatoid malformation (CCAM) of the lung compared to a life-threatening malformation such as congenital diaphragmatic hernia (CDH). MATERIALS AND METHODS: The Spielberger State-Trait Anxiety Inventory (STAI-S) was used to measure anxiety in two groups of mothers carrying a fetus with the respective malformation. RESULTS: Forty-four mothers completed the questionnaire (CCAM, n=21 and CDH, n=23). Before consultation, the mean STAI-S scores in the CCAM group (44.80+/-5.92) and in CDH group (44.05+/-4.96) were not significantly different but was significantly reduced in both groups after consultation (CCAM 44.80 vs. 41.60, P=0.014 and CDH 44.05 vs. 34.35, P=0.0001). The groups were not significantly different regarding gestational age at diagnosis. CONCLUSIONS: After initial prenatal counselling, uncertainty about prenatal outcome and lack of defined management plans in CCAM seems to be more important than higher mortality rate occurring in CDH.

Psychological outcome and quality of life in children born with congenital diaphragmatic hernia.

OBJECTIVE: To assess psychological and social functioning and health related quality of life and its early determinants in children born with congenital diaphragmatic hernia (CDH). DESIGN: Cross-sectional follow-up study. SETTING: Outpatient clinic of a tertiary care hospital. PARTICIPANTS: 33 CDH survivors aged 6-16 years. MAIN EXPOSURE: Patients who developed CDH associated respiratory distress within 24 h after birth. MAIN OUTCOME MEASURE: Psychological and social functioning assessed with the Wechsler Intelligence Scale for Children (WISC-R), Bourdon-Vos test, Beery Developmental Test of Visual Motor Integration, Child Behavior Checklist (CBCL) and Teacher Report Form (TRF), and health related quality of life assessed with the Child Health Questionnaire (CHQ) and Health Utilities Index (HUI). RESULTS: Normal mean (SD) total IQ (100.0 (13.2)) and normal visual-motor integration, but significantly lower results for sustained attention (Bourdon-Vos test, 38.8 (11.2) points) were found. Learning difficulties were reported by 30% of parents. Eight children had scores in the clinical range on the CBCL and/or TRF, indicating clinically significant behavioural problems. Except for the CHQ scale General Health, health status was not different from the reference population. No significant correlations between test results and severity of CDH were found, except for an association of general health and physical functioning with length of hospital stay. CONCLUSION: CDH patients are at risk for subtle cognitive and behavioural problems, probably not related to CDH severity. Perception of general health is reduced compared to the reference population, indicating that CDH survivors and their parents believe their health is poor and likely to get worse.

Approaches to neurodevelopmental assessment in congenital diaphragmatic hernia survivors.

BACKGROUND: Infants with congenital diaphragmatic hernia require complex surgical care and may have neurodevelopmental morbidity. We examined the performance of reports of motor functioning in 25 congenital diaphragmatic hernia survivors using the parent-completed Developmental Profile-II and a clinical evaluation by a neurodevelopmental pediatrician (MD) measured against the Bayley motor scale. METHODS: Bayley motor scores were dichotomized as normal or abnormal. Sensitivity and specificity were calculated for each test. RESULTS: The median age at assessment was 25 months. Bayley motor scores were abnormal in 77% of infants tested (10/13). The MD examinations detected motor problems in 92% (12/13). Sensitivity and specificity of the MD examination were 1.0 and 0.33, respectively. Developmental Profile-II physical scores were abnormal in 15% (2/13); sensitivity and specificity were 0.2 and 1.0, respectively. CONCLUSIONS: The high rate of abnormal motor findings in this study supports the need for ongoing screening and evaluation. The sensitivity of MD examinations was excellent, but hypotonia findings were not universally corroborated by the Bayley. Although specificity of parent-reported motor findings was high, parents underreported abnormal motor findings. Parental reports of neurodevelopmental problems should be heeded, and physicians should perform screening motor examinations. Bayley assessments may be warranted to determine the functional implications of observed abnormalities.

Antenatal diagnosis of diaphragmatic hernia: parents' emotional and cognitive reactions.

PURPOSE: The aim of this study was to assess parent's emotional and cognitive reactions to the prenatal diagnosis of diaphragmatic hernia in their prospective children. METHODS: A survey was conducted by means of a questionnaire. In the period ranging from 1997 to 2002, 40 couples in whom an established diagnosis of diaphragmatic hernia was made in their fetus were seen for prenatal consultation at a tertiary referral center. RESULTS: Overall response rate was 93% (37 couples). Mean period since diagnosis for compilation of the questionnaire was 2 weeks. Mean gestational age at diagnosis was 25 weeks (range, 16 to 35 weeks). All parents lacked prediagnostic knowledge of diaphragmatic hernia and consider a single consultation with the paediatric surgeon inadequate to have a clear understanding of the anomaly. Only 1 mother and 1 father reported they understood all the information given by the surgeon. The most frequent (75%) feeling during and after the consultation was fear. Most parents (70%) referred to the intense emotions as the factor that made it difficult to follow the surgeon's explanations as well as to ask questions. CONCLUSIONS: Because of the incompatibility of emotional distress and optimum learning, impairment of early comprehension of information about diaphragmatic hernia is unavoidable. Therefore, we believe that follow-up antenatal consultations and provision of written and visual illustration are extremely important to facilitate informed choices.

Children with congenital diaphragmatic hernia are at risk for lower levels of cognitive functioning and increased emotional and behavioral problems.

The physical, psychological, and social functioning of 11 children aged 8 to 12 years with Congenital Diaphragmatic Hernia (CDH) was assessed with several standardized assessment procedures. Physically, most children functioned well at follow-up with half of the children showing minor physical problems such as bronchial hyperreactivity. The mean IQ of the children was 15 points (1 SD) below the norm of 100. Only 6 children were at expected school level. The children showed more emotional and behavioral problems than in the general population as reported by parents and teachers. The children themselves reported more depressive problems, but not a lower self-esteem than children in the general population. These results were confirmed by the results of interviews with parents and children concerning psychosocial functioning. It is concluded that children with CDH show more cognitive and learning problems and increased rates of emotional and behavioral problems compared to children in the general population. Since no children treated with Extra Corporeal Membrane Oxygenation (ECMO) were involved in this study, the earlier reports that lower cognitive functioning is limited to children with CDH treated with ECMO can not be confirmed by this study. Considering the results of this study, there is a need for further follow-up studies concerning the long-term psychological and social functioning of children with CDH.

The role of psychiatric factors in symptoms of hiatus hernia or gastric reflux.

The study comprised 26 patients with somatic symptoms indicating a hernia-reflux syndrome referred to a university hospital ear, nose and throat department. The aim was to throw light on the hypothesis that this syndrome is largely a psychosomatic problem. The patients were divided into two groups: subjects with and without laboratory findings of physical pathology of hernia and/or reflux. Intergroup comparisons were made of symptoms, a psychological test and psychiatric ratings. Those who had no laboratory findings of physical pathology often reported "phobia" and "feeling of lump in the throat", which were interpreted as signs of hysterical or somatizing mechanisms. Most of these patients showed a high level of anxiety in the psychological test. "Agitation", "depression" and "frustration" were characteristics of patients with laboratory findings of reflux. "Depression" was interpreted as a reaction to the somatic illness. The group with reflux contained more old male patients and that without more younger female patients.