Abstract
Objectives. To explore the relationship between the period preceding diagnosis and the way parents of children with cystic fibrosis (CF) experience and handle their child’s disease.
Design. A retrospective study.
Setting. CF Center “Noordwest Nederland,” the Netherlands.
Participants. Participants were the parents of children <13 years old with CF who were treated at the CF Center “Noordwest Nederland.” The participants were divided into 2 groups according to the duration of prediagnostic period: <3 months (defined as early diagnosis) and ≥3 months (defined as late diagnosis).
Main Outcome Measures. Experience of the prediagnostic period, contact with the medical profession, coping, future perspective, and attitudes toward neonatal screening for CF.
Results. Parents of 55 children were eligible for study participation; 45 were enrolled. Retrospectively, the period preceding an early diagnosis was less negatively experienced by parents than the period preceding a late diagnosis. Parents of children with an early diagnosis had retrospectively more confidence in the medical profession before confirmation of diagnosis. In general, parents in this study used adaptive coping styles. Duration of prediagnostic period was not significantly related to future perspective. Hopelessness seemed to be mainly determined by a severe course of disease as experienced by the parents. Ninety-eight percent of all parents were in favor of neonatal screening for CF.
Conclusions. A short prediagnostic period is associated with less negative feelings and increased confidence in the medical profession among parents of children with CF. Neonatal screening for CF may be of benefit to parents by removing the stress of a delayed diagnosis.
Cystic fibrosis (CF) is a serious life-threatening disease, leading to malnutrition and chronic lung infection.1 Most CF patients will survive nowadays into the fourth or fifth decade of life. In ∼40% of cases, CF is not diagnosed in the first year of life.2
In the prediagnostic period, ranging from several months to years, most patients have symptoms and parents may repeatedly attend medical professionals.3 With neonatal screening, parents can be informed about the diagnosis of CF within 3 months’ time.4 Neonatal screening for CF prevents malnutrition, improves long-term growth,5 and may be associated with improved lung function and less chronic lung inflammation.6 Although it does not change the susceptibility for airway colonization and infection with Pseudomonas aeruginosa, 7 neonatal screening for CF provides the opportunity for early intervention. The most reliable approach for screening consists of an immunoreactive trypsin analysis followed by a multiple mutation analysis in dried blood spots on Guthrie cards, which has been estimated to cost $2.32 per screened child.8
Despite improvements in health outcomes from newborn screening for CF, its low costs and acceptable test performance, Wald and Morris9 recently stated that “the early knowledge of a serious disorder such as CF will cause more harm than good if there is no effective remedy” although investigations supporting this view are lacking. In contrast, there is evidence that incorrect diagnoses often prolong the prediagnostic period and may generate in parents increased anxiety, guilt, anger, and mistrust of the medical profession.10–13 We therefore assessed in this study whether 1) parents of children with CF diagnosed early after their first symptoms experience the prediagnostic period more positively than parents of children with a late diagnosis of CF, or 2) an early or a late diagnosis influences the parent’s confidence in the medical profession, the coping with their child’s disease, and their future perspective differently.
METHODS
Subjects
The subjects group consisted of parents of children with CF treated at the CF Center “Noordwest Nederland.” To avoid interference of puberty-related problems, parents of children aged 13 years or more were excluded from this study. Parents of CF children diagnosed >10 years ago were excluded to limit the recall bias. As the influence of 4 predictor variables was examined, based on a guideline to look at no more than n/10 predictor variables, where n is the sample size,14 we aimed to include parents of at least 40 children with CF.
Parents of 55 children with CF were eligible for study participation. Parents of 45 children (82%) were enrolled, including 45 mothers (mean age: 36.8 years) and 30 fathers (mean age: 38.2 years). Parents of 5 children refused to participate because of too many bad memories or problems with acceptance of their child’s disease. These children were diagnosed at a mean age of 13 (2–30) months. Parents of 5 children did not have time to take part in this study.
The children included in this study had been diagnosed between the ages of a few days and 10 years. Two families had 2 children with CF. In these families, parental experiences of only 1 of their 2 children with CF were evaluated. In 1 family, the excluded child with CF died in the first year of life resulting from gastrointestinal complications; in the other family, the excluded child with CF was >13 years of age at the time of interview.
Procedure
Parents who met the study criteria were first approached by telephone by the leading investigator (M.E.M.) and were subsequently sent a letter to inform them about this study. Parents were not told about our specific interest in the influence of the prediagnostic period. Once they agreed to participate, both parents (when possible) completed a 57-item, semi-structured, in-depth interview at the hospital. The questions from this interview originated from field-tested questionnaires among Dutch CF patients15 and parents of children with Turner syndrome,16 with authors’ permission, as well as self-made questions regarding unique items of the study not used in the previously mentioned questionnaires. Topics of the interview are shown in Table 1. The following outcome measures described below were derived from the interview: experience of the prediagnostic period, contact with the medical profession, and attitudes toward neonatal screening for CF. Moreover, all the predictor variables used in this study were obtained via the interview. Interviews were conducted in private by a physician (M.E.M.) or 2 senior medical students (A.A.V. and F.T.) and lasted 1 to 2 hours. Beforehand, the interviewers received special interview training, including evaluation of videotaped pilot interviews, supervised by an independent psychologist. The semi-structured questionnaire was coded according to predefined criteria set up by the interviewers and the statistician in this study. Discussions about results of coding were regularly held, and the final decision about coding was made by the leading interviewer (M.E.M.).
Topics of the 57-Item Semi-structured In-Depth Interview
In addition to the interview, parents completed 2 standardized questionnaires to assess the variables coping and future perspective.
Study participants gave written informed consent. The ethics committee of the CF center approved the study protocol.
Variables
Outcome Measures
Experience of the Prediagnostic Period
Parents were asked about their experiences of the prediagnostic period, to classify these experiences as positive or negative, about which symptoms and signs caused them to concern about their child’s health, and whether they were told incorrect diagnoses by the medical profession.
Contact With the Medical Profession
To evaluate the relationship between the medical staff and the parents, an important factor for parents’ quality of life,17 parents were asked about the number and sort of contacts with the medical profession before diagnosis and in the last year before the interview and about the degree of confidence, as a percentage, in the medical staff. Because the confidence data were skewed, these data were dichotomized into 2 categories resulting in equally sized groups—less than or at least 90% confidence.
Coping
To evaluate parental coping with their child’s disease, a validated Dutch adaptation of the Ways of Coping Questionnaire18 measuring situation-specific coping was used. This questionnaire contains 41 items and has 6 subscales: Problem Solving, Seeking Social Support, Accepting Responsibility, Positive Reappraisal, Wishful Thinking, and Avoidance. The first 4 are adaptive coping styles, whereas the last 2 are palliative coping styles.19 Parents were asked to keep in mind 1 specific situation in the management of their child’s disease during the past 12 months while answering the questions, eg, dealing with the daily use of drugs. They were asked whether each of the 41 items was applicable to the situation they had chosen. Possible answer categories were “not at all,” “somewhat,” “quite a bit,” and “a great deal.” These categories were rated from 1 to 4, resulting in a total general coping score and 6 subscores.
Future Perspective
Since CF is a life-threatening disease, parents’ future perspective is likely to have a great impact on the way parents experience and handle the disease of their child. The Beck Hopelessness Scale (BHS) was used to measure parents’ future perspective. The BHS is a reliable 20-item, true-false questionnaire measuring the respondent’s hopelessness about the future.20 Eleven items are rated as hopeless (1) and 9 items are rated as hopeful (0); hence, total BHS scores can range from 0 to 20. A total score of >9 indicates hopelessness. This outcome measure was subdivided into BHS scores <9 and BHS scores ≥9.
Attitudes Toward Neonatal Screening for CF
At the end of the interview, parents were told about the possibility to screen newborn infants for CF and were asked to give their opinion about this possibility. Their answers were scored as positive, negative, and no meaning.
Predictor Variables
The way parents experience and handle the disease of their child depends on several personal and environmental factors, such as disease status, individual coping skills, social support, and socioeconomic status.21 Because of the relatively small sample of children with CF in this study, we limited the number of predictor variables to 4.
Prediagnostic Period
This was defined as the duration of time from the first parental concern about their child’s health to final confirmation of the diagnosis CF (positive sweat test). Parents were divided into a group of parents with an early diagnosis (prediagnostic period <3 months) and a group of parents with a late diagnosis (prediagnostic period ≥3 months). The definition of an early diagnosis was based on the maximal length of time needed to establish a diagnosis of CF after neonatal screening as observed in several neonatal screening programs.13,22,23
Children’s Disease Severity as Experienced by the Parents
Parents were asked to rate their child on a global dimension of disease severity, ranging from “not at all severe” to “very severe.” Answers of parents were scored from 1 to 5.
Present Status of Children’s Disease as Experienced by the Parents
To evaluate the child’s health status in the last year, as experienced by the parents, we asked the parents whether their child suffered from each of the symptoms: shortness of breath, cough, sputum production, fatigue, abdominal cramps, and loss of appetite. Answer categories included “never,” “sometimes,” or “often” and were rated from 1 to 3. Moreover, parents were requested to compare the course of their child’s disease from the past year with that before diagnosis. Possible answer categories ranged from “much better” to “much worse.” These categories were rated from 1 to 5. Ratings of all answer categories were enumerated. A total score was calculated ranging from 7 to 23.
Family Stress
Parents were asked about special stressful life events besides events related to the disease of their child, such as financial problems, illness or death of family members, relational problems, divorce and unemployment. Parents were subdivided into groups with and without family stress.
Statistical Analysis
The Statistical Package for the Social Sciences (SPSS, SPSS Inc, Chicago, IL) was used for data management and statistical analyses. The 2 groups of parents were compared using the χ2 test or the t test, as appropriate. To examine the relationship between the predictor variables and the outcome measures contact with the medical profession, coping, and future perspective, univariate regression analyses were performed first. Logistic regression analyses were performed for categorical outcome variables and linear regression analyses for the continuous outcome variables. Because of the exploratory nature of this study, all predictor variables with P values <.50 in the univariate analyses (potentially significant variables) were then considered in multiple regression analyses for each outcome measure. The variable early or late diagnosis was incorporated in all multiple regression analyses. All analyses were controlled for children’s age at interview and time between diagnosis and interview. Individuals with missing values for one or more variables in the models were omitted from the analyses. We defined a P value ≤.05 as statistically significant and described a P value between .05 and .10 as tended or appeared.
Separate analyses for mothers and fathers were performed. Because of a greater number of data available and the more prominent role in providing daily care and management, we chose to present the results of the analyses of the mothers.
RESULTS
Study Population
Predictor Variables
Prediagnostic Period
The prediagnostic period ranged from a few days until 4.4 years; <3 months in 18 and ≥3 months in 27 children. Patients with an early diagnosis were diagnosed at a median age of 3.4 (0.1–8.0) months and patients with a late diagnosis at a median age of 13.0 (3.0–120.0) months (t test, P = .002). Median age at interview was 4.1 (0.5–10.9) years in the early diagnosis group and 8.0 (1.5–12.0) years in the late diagnosis group (t test, P = .003). Parents’ age at interview, marital status, education, ethnicity, religious affiliation and practice, number of children, gender of the child with CF, number of first born children with CF, and time between diagnosis and interview were similar in the 2 groups.
Severity and Present Status of Disease as Experienced by the Parents
Mothers of children with an early diagnosis rated the severity of their child’s disease not significantly different from mothers of children with a late diagnosis (t test, P = .40).
Family Stress
Stressful events besides problems related to disease of CF seemed to occur more frequently among parents of children with an early diagnosis (50%) than among parents from the late diagnosis group (26%, χ2 test, P = .10).
Outcome Measures
Experience of the Prediagnostic Period
The majority of parents, but significantly fewer parents from the early diagnosis group than parents from the late diagnosis group (61.9% vs 85.2%; χ2 test, P < .05) experienced the prediagnostic period negatively.
Children with an early diagnosis mainly presented with failure to thrive (Table 2). Six children had >1 symptom or sign, mainly failure to thrive together with respiratory symptoms. Patients with a late diagnosis presented mainly with respiratory symptoms, whereas 12 children had >1 symptom, mainly gastrointestinal symptoms together with failure to thrive. Although in 2 children with a late diagnosis meconium ileus or meconium plug was the first symptom, diagnostic procedures were delayed until the age of 4 months, respectively 2 years.
Causes of Concern About Their Child’s Health in Parents From the Early Diagnosis and Late Diagnosis Groups
In the prediagnostic period, some parents were told incorrect diagnoses by the medical professionals (Table 3). Patients with an early diagnosis were less often incorrectly diagnosed than patients with a late diagnosis, but differences in incorrect diagnoses between groups were not statistically significant (χ2 test, P = .14).
Previous Incorrect Diagnoses in Patients With an Early Versus a Late Diagnosis of CF
Contact With the Medical Profession
An early diagnosis was associated with fewer contacts with the medical profession in the prediagnostic period (linear regression, P = .05). In the year before the interview, none of the predictor variables were significantly associated with the number of contacts with the medical profession.
Mothers of patients with an early diagnosis had significantly more confidence in the medical profession before confirmation of the CF diagnosis than mothers from the late diagnosis group (odds ratio [OR]: 3.84; 95% confidence interval [CI]: 1.02–14.54; P = .04; Table 4). In the year before the interview, no variable was significantly associated with the degree of confidence in the medical profession, although mothers with family stress tended to have less confidence than mothers without family stress (OR: 0.18; 95% CI: 0.03–1.09; P = .06; Table 4).
Results of Multiple Logistic Regression Analyses Using Potentially Significant Predictor Variables and Measures: Confidence in Medical Profession and Hopelessness
Coping
The coping questionnaire was completed by 41 (91%) of 45 mothers. Four mothers, 2 in each diagnosis group, could not think of a difficult situation in the management of their child’s disease, and therefore the questionnaire was not completed by these parents. None of the predictor variables used in this study had a significant association with parents’ coping with the management of their child’s disease. The most often used coping styles in this study were Problem Solving and Seeking Social Support. Despite a greater number of mothers from the early diagnosis group which used adaptive coping styles, differences in the use of these coping styles between mothers of children with an early or a late diagnosis were not statistically different. Differences between mothers in the use of palliative coping styles were negligible.
Future Perspective
BHS scores >9, indicating hopelessness, were observed in 17% of mothers from the early diagnosis group and in 26% of mothers from the late diagnosis group. In the multiple regression analysis, duration of prediagnostic period was not significantly associated with hopelessness (OR: 0.68; 95% CI: 0.08–6.25; P = .73; Table 4), nor was any other predictor variable.
Attitudes Toward Neonatal Screening for CF
Except for 1 mother who had no opinion about this subject, all mothers were in favor of neonatal screening for CF. Reasons for this positive attitude were neonatal screening offers the opportunity to reduce parental stress in the prediagnostic period, enables early treatment and monitoring of patients, and prevents unnecessary diagnostic procedures and hospital admissions in children.
Differences Between Mothers and Fathers
Only minor differences between mothers’ and fathers’ responses to the questions in the interview as well as their scores from the 2 questionnaires were observed. Fathers with an early diagnosis in our study did not significantly have more confidence in the medical profession before diagnosis than fathers with a late diagnosis. However, fathers of children diagnosed early had significantly fewer contacts with the medical staff before the CF diagnosis compared with fathers of children diagnosed late. In addition, the adaptive coping style Positive Reappraisal was significantly more used by fathers who described a less severe course of their child’s disease.
DISCUSSION
Experiences of the Period Before Diagnosis
We found that parents of children with CF experienced an early diagnosis less negatively than a late diagnosis. Although previous studies suggested that a late diagnosis of CF generates in parents negative feelings such as anxiety, guilt, anger, and mistrust of and hostility toward medical staff,10–13 these studies did not compare experiences between parents of children with an early versus a late diagnosis of CF.
Impact of an Early Versus a Late Diagnosis on Contact With Medical Staff, Coping, and Future Perspective
An early diagnosis with CF was associated with more confidence in the medical profession. Moreover, a short prediagnostic period reduces the number of contacts with the medical staff before diagnosis. In the long-term, confidence in the medical staff was not influenced by an early or late diagnosis. However, most parents who in the past have had negative experiences had changed from their primary care giver at the time of interview.
Hopelessness in this study population seemed mainly associated with a severe course of CF as experienced by the parents (Table 4). Interestingly, more parents of children with a late diagnosis described their child’s disease as severe compared with parents of children diagnosed early, but experience of disease severity was not significantly different between parents.
In general, parents in this study seemed to use adaptive coping styles, which are associated with better parental adjustment.21 The 6 coping styles examined among mothers in this study were neither significantly associated with an early or late diagnosis nor with the other predictor variables. Among fathers, only the variable disease severity was significantly associated with 1 of the adaptive coping styles; a negative association between Positive Reappraisal and disease severity was found in our study. However, a study examining 6 coping styles probably requires larger sample sizes.
Several factors may have biased our results. First, it can be argued that the further back in time parents have to remember, the greater the risk of under- or overreporting details. A recall bias in our study, however, was limited by adjusting for time since diagnosis in all regression analyses. Moreover, the analyses were adjusted for patient’s age at time of interview. Second, exclusion of parents who refused to participate may have influenced our results. Third, the samples for the 2 study groups were relatively small, therefore, analyses may best be viewed as explorative in nature. Larger samples may be needed to confirm our findings.
Although these limitations prohibit strong conclusions, the results of this study clearly do not support the statement that “the early knowledge of a serious disorder such as CF will cause more harm than good if there is no effective remedy.”9 Our study shows, as suggested by others,24,25 that an early diagnosis may be of benefit to parents by removing the stress of a delayed diagnosis. In our study, 44 (98%) of 45 mothers had positive attitudes toward the possibility of neonatal screening for CF. Parents who, after an early diagnosis of CF in their child, obtain early knowledge of the recurrence risk of CF in future pregnancies often decide to avoid further offspring with CF.8 Moreover, an early diagnosis of CF leads to medical advantages for the affected child.5,6 The results of this study show potential psychological advantages for parents of children with CF and can be important for the debate about whether neonatal screening for CF should be incorporated in the routine neonatal screening program.24
Acknowledgments
We thank Alice van Dijk for the interview training and Inge Bramsen and Froukje Slijper for their advice on the construction of the interview and use of questionnaires. We gratefully acknowledge Drs Ad F. Nagelkerke, Jan C. van Nierop, and Piet P. M. Schilte, as well as the nursing and office staffs and the social workers of the CF center “Noordwest Nederland” for their cooperation.
REFERENCES
- Copyright © 2003 by the American Academy of Pediatrics
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