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What Follows Newborn Screening? An Evaluation of a Residential Education Program for Parents of Infants With Newly Diagnosed Cystic Fibrosis

Susan M. Sawyer, MD, FRACP^* and Judith A. Glazner, RN, MA

^* Department of Paediatrics, University of Melbourne, Melbourne, Australia
Department of Respiratory Medicine, Royal Children's Hospital, Melbourne, Australia

	ABSTRACT

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Objective. The diagnosis of a severe life-limiting condition, such as cystic fibrosis (CF), is generally followed by assessment and treatment of the child and education and counseling for parents. The introduction of newborn screening for CF provides an opportunity for standardized assessment and education. The aim of this study was to evaluate a 5-day residential assessment and education program for parents of infants who receive a diagnosis of CF after newborn screening.

Methods. Eligible parents had a 6- to 30-month-old infant with CF diagnosed by newborn screening. Parents were interviewed by telephone using a structured questionnaire that addressed 3 main themes: 1) initial communication of the diagnosis of CF, 2) the perceived value of the 5-day assessment and education program, and 3) the perceived advantages and disadvantages of the residential component (Care-By-Parent unit) of the program.

Results. Fifteen of 17 eligible families took part in the 5-day assessment and education program, 12 of whom used the residential Care-By-Parent unit. At the end of the program, parents believed that they had the knowledge and skills required to manage their child's CF at home. One hundred percent endorsed the timing of the assessment and education program immediately after the child's diagnosis and would recommend it to other families in the same situation. Perceived advantages of the residential program were not having to travel (89%), being able to concentrate on CF (50%), and the benefit of a "home base" at the hospital (39%). Twenty-two percent reported that financial costs related to participation (paternal time off work) were a disadvantage, 17% reported additional strain on family members caring for siblings, and 17% mentioned lack of comfort within the unit.

Conclusions. This time-intensive residential program was evaluated positively by parents of children with newly diagnosed CF. It provides a model for education programs after the diagnosis of CF by newborn screening, as well as for other pediatric conditions that require intensive parent education.

Key Words: cystic fibrosis • newborn screening • diagnosis • education • chronic illness

Abbreviations: CF, cystic fibrosis

The diagnosis of a severe, life-limiting condition such as cystic fibrosis (CF) is a highly distressing event for parents, with initial emotional responses including shock, denial, anxiety, sadness, and despair.^1–3 At the same time that parents experience these powerful emotions, they are also required to understand the nature of CF and to learn a set of skills that will enable them to perform the complex tasks required to look after their infant with a newly diagnosed disease.

In many parts of the world, the diagnosis of CF is made in response to clinical symptoms. In this setting, the focus of clinical treatment, parent education, and support will vary according to the child's age and the severity of the presenting symptoms.^4,5 The availability of newborn screening results in a diagnosis of CF before the development of clinical symptoms (with the exception of meconium ileus). This provides a different opportunity for education and supportive interventions for families.

Despite >20 years of experience with CF newborn screening, there continues to be international debate about its long-term health benefits.^6–9 There is less argument about short-term nutritional benefits^10,11 and the value of genetic counseling to inform future reproductive decisions.^12–14 The experience accumulated from many years of CF newborn screening programs seems to be shifting the balance of opinion toward implementation of screening programs in countries that do not yet screen.^6,15

Communication has been postulated to have a critical impact on how newborn screening affects parents.^16,17 It might be expected, therefore, that discussion about education and support programs would be central to the debate about additional implementation of newborn screening programs. There has been, however, remarkably little discussion of these themes, apart from the importance of risk communication and genetic counseling.^18,19

Newborn screening for CF was introduced in Victoria, Australia, in 1989. Screened infants receive a diagnosis at 6 to 8 weeks of age using immunoreactive trypsinogen as the primary screen followed by gene mutation analysis for the common mutation (F508).²⁰ Before newborn screening, hospitalization was nearly always required for assessment and treatment because the infants were symptomatic. Parent education was simply "fit in" between the various demands of a busy pediatric ward. After the introduction of newborn screening, clinical assessment and parent education were initially similar to the prescreening era, although the focus of hospitalization became assessment rather than treatment, with a greater emphasis placed on education and support to facilitate healthy adaptation. The establishment of a residential Care-By-Parent unit at the Royal Children's Hospital in 1991 led to the development of a 5-day residential assessment and education program for parents of infants with newly diagnosed CF. This article reports an evaluation of the effectiveness of this program in meeting the needs of parents of infants with newly diagnosed CF.

	METHODS

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Setting
The Royal Children's Hospital is a tertiary hospital with a specialist CF clinic of 300 infants, children, and adolescents. At the time of this study, it was the sole pediatric CF center in the state of Victoria (population 4.5 million).

Study Subjects
Eligible parents had an infant who had CF, was aged between 6 and 30 months, received a diagnosis by newborn screening in Victoria, and did not require hospital admission at the time of diagnosis. Thus, infants who presented with meconium ileus were excluded. Parents were sent an introductory letter to explain that we wished to evaluate critically the current education program with the goal of better meeting parent needs at the time of diagnosis. Parents were telephoned to set up a time for interview (each parent was interviewed separately) using a structured questionnaire. Parents were interviewed by the same interviewer over a 2-week period.

Education Program
In Victoria, the result of positive newborn screening is generally communicated to parents by the CF genetic counselor at the Royal Children's Hospital (where the diagnostic laboratory is also based). Parents are offered a combined appointment with a CF physician and CF counselor and clinic coordinator for the same (or next) day that a diagnosis of CF is confirmed by sweat test, which is generally the day after notification of a positive screen. At this appointment, after confirmation of the diagnosis, parents are provided with an overview of CF and its management and are given a range of resource material (see Fig ¹). At this time, we recommend admission to the residential Care-By-Parent unit for additional assessment and education, which is generally arranged for the start of the next week.

View larger version (24K): [in this window] [in a new window]   Fig. 1. CF resources provided to families. The first 4 resources are given to families at their first meeting with the CF physician and counselor, with the remainder distributed during the education week.

View larger version (64K): [in this window] [in a new window]   Fig. 2. Sample program.

Structured Questionnaire
The structured questionnaire contained 44 questions that addressed 3 main themes: 1) initial communication of the diagnosis of CF, 2) parent evaluation of the assessment and education program, and 3) parent perceptions of the residential Care-By-Parent unit. It took 20 minutes to complete by telephone interview. Many of the response formats used a 5-point Likert scale. For example, questions about the education component included the value of resource material (a score of 5 was highly informative in comparison with a score of 1, which was highly uninformative). Similarly, parents were asked to comment about how they felt at the end of the education program (a score of 5 was highly knowledgeable, skilled, or confident in comparison with a score of 1, which was not at all so).

Informed Consent
This study was a clinical audit, for which Institutional Review Board approval was not required.

Analysis
Analyses were predominantly descriptive. Data analysis was performed using the Stata statistical software package (Stata Corporation, College Station, TX).

	RESULTS

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Twenty-four infants with CF were born during the evaluation period. Seventeen families met the eligibility criteria, 15 (88%) of whom agreed to participate in the evaluation. Two families were unable to participate because they were away. Interviews took place with 27 parents (15 mothers, 12 fathers).

At diagnosis, the mean age of the 15 infants was 5 weeks (range: 3–9 weeks). The mean age of the children at the time of this evaluation was 17 months (range: 6–30 months). Both parents of the 15 infants participated in the assessment and education program. Twelve of the 15 families used the residential Care-By-Parent unit, whereas 3 families attended daily. One of these 3 families wanted to use the Care-By-Parent unit, but it was not available at the time. Twelve families participated for the whole 5 days, whereas 3 participated for 4 days after parent request for a shorter program.

Initial Contact and First Meeting
Ten of the 15 families were notified of the diagnosis by the CF genetic counselor. These families were significantly more satisfied about the notification (P < .05, Fisher exact test) than those who were notified by other health professionals. Specifically, whereas 8 of the 10 families who were notified by the genetic counselor were satisfied with this arrangement, 4 of the 5 families who were notified by other health professionals (2 were notified by their obstetrician, 2 by their pediatrician, and 1 by their family doctor) reported that they would have preferred to be informed by the genetic counselor.

After the first appointment with the CF physician and counselor/clinic coordinator, all families reported that the information that they received was clear and comprehensive with sufficient time for questions. All families were satisfied that the CF material with which they were provided at this time (written material and CF videos) was either "extremely informative" or "informative." Two mothers wanted more information: one desired more written information about coping with the emotional aspects of CF, and another suggested the value of a physiotherapy video. One of the 12 fathers would have liked less information at this time. When asked which information should be included at the very first meeting, the themes most commonly reported by mothers were optimism about the future, the likely prognosis of their child, and an explanation of what CF is. Fathers most commonly wanted discussion about the prognosis and an explanation of CF. Only 1 mother and 2 fathers reported that they wanted to hear about genetic aspects of CF at this time.

Care-By-Parent Unit
Twelve families used the residential Care-By-Parent unit. Ten of these 12 families stayed overnight in the unit, although 1 father stayed for only 1 night. Three grandmothers also stayed for at least part of the time and attended various education sessions. Six families had other children, 2 of whom stayed for the 5 days and 2 stayed for 1 night only. The other 2 did not stay.

The 24 parents who used the residential program were asked to comment on their perceptions of the relative advantages of a residential program versus the alternative of daily attendance. Twenty-one (88%) commented on the benefits of not having to travel, 12 (50%) commented that the residential program allowed them to concentrate fully on CF, and 9 (38%) valued access to a room between the various educational sessions. Seven (29%) mentioned the advantage of having the CF team available as back-up (although none required additional care during this time).

Parents who used the residential Care-By-Parent unit were asked to comment on the disadvantages of a residential program. Six (25%) described financial costs related to fathers taking time off work (which is presumably not specific to a residential program), 4 (17%) reported additional strain on the extended family in relationship to sibling child care, and 4 (17%) mentioned the lack of comfort within the Care-By-Parent unit. All 24 parents who used the residential Care-By-Parent unit reported that they would recommend it to other families in the same situation.

Assessment and Education Program
The 27 (100%) parents who participated in the 5-day assessment and education program endorsed the timing of the program immediately after diagnosis. They also strongly endorsed the duration of the program. Five of the 15 mothers and 2 of the 12 fathers would have liked more time with the CF physician, although the information that they received was judged to be "about right." Four mothers wanted more nutritional information and 2 wanted more time with the dietitian, whereas 1 mother wanted more time with the physiotherapist. Two thirds of parents reported that they would have liked to meet another family with a child with CF during the education week, although one third were clear that they were not ready to meet anyone else at this time.

Parent assessment of the program is presented in Table 1 (parent responses are grouped as there was no significant difference between responses from mothers and fathers). At the end of the 5 days, parents reported that they felt capable of managing the day-to-day requirements of CF and knew how to elicit additional support if required. The last 2 statements on the questionnaire related to confidence managing the child's CF care at home and concern about future coping. Parents did not rate these long-term issues as confidently.

	DISCUSSION

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This evaluation indicates that parents of infants with CF diagnosed by newborn screening felt very positive about the 5-day residential assessment and education program, with all respondents indicating that they would recommend it to other parents in the same situation. We believe that the key elements that contribute to the success of this program are prompt timing immediately after diagnosis, engagement of both parents, clear and comprehensive communication at all stages, the opportunity for supervised skill development (eg, pancreatic enzyme administration, chest physiotherapy), and the expertise of the CF team. An additional factor that is recognized to be valuable for parent education generally is the provision of written material.^5,21

Recall bias may have affected the results of this study. Parents may be unable to separate ongoing educational interventions at routine clinic appointments from the educational processes that took place within the 5-day program. This may be exacerbated by the powerful emotional responses of parents at the time of diagnosis.^2,3 However, the negative impact of the diagnosis of CF could equally be expected to bias results against any perceived value of educational and supportive interventions soon after diagnosis, regardless of how positive subsequent clinic interactions may have been. Notwithstanding the apparent satisfaction of parents with our education program, it must be remembered that we did not enroll a comparison group.

What constitutes best practice in relationship to education for parents of infants with newly diagnosed CF? Standardized testing and quality assurance programs are recommended for some elements of CF care, such as for laboratories that perform CF genetic testing²² or for specific elements of genetic counseling.²³ Various authors have emphasized the importance of treatment, counseling, and follow-up in discussions about implementation of CF newborn screening programs,^6,24,25 yet specific education or counseling content is rarely described. Bush²⁶ provided a comprehensive, personal account of giving the diagnosis of CF from the medical perspective, whereas Myer² provided a detailed nursing care plan for early assessment, education, and support for parents of children with newly diagnosed CF. Both are highly relevant for consideration of best practice approaches to assessment and education after newborn screening, although neither was written from this particular perspective.

Perhaps the limited publications in this area, whether in relationship to CF or to other newborn screening programs, suggest that the importance, content, and style of these interventions are obvious. However, Farrell et al¹⁸ in a recent review of US regional newborn screening programs suggested that this is not the case, as only 76% of US screening programs routinely provide counseling services to families of affected infants.

This raises the question as to what is understood by the term "counseling" and what is actually needed at the time of diagnosis. The importance of quality genetic counseling, in terms of risk communication, has been well described within the CF newborn screening debate.^19,23 However, it is noteworthy that Baine et al²⁷ found that parents of children with CF (not diagnosed by newborn screening) rated components of evaluation, education/information, and emotional support more highly than they rated genetic counseling. Parents from our study similarly rated receiving general information about CF and its treatment, as well as reassurance of prognosis, as far more important than receiving detailed genetic information or genetic counseling at the time of diagnosis.

In an evaluation of what parents of children with chronic illness and disability view as good information provision, Mitchell and Sloper²⁸ proposed a 3-dimensional model; families ideally receive summaries or directories of local services and support, alongside more informative or in-depth booklets about the disorder, while being supported by "key workers" who act as personal advisors. These authors highlighted the importance of professional–family partnerships' being interwoven with the theme of empowerment of families. This is particularly relevant given that parents of children with chronic illness and disability have been shown to be vulnerable to high levels of distress and that parents who feel more in control of events and can obtain appropriate help for their child are less likely to have high levels of distress. We believe that many of the spontaneous comments made by families during this evaluation attest to their feeling more empowered after participation in our program.

A residential program that requests the attendance of both parents for 5 days requires a substantial commitment by families. CF services that do not have residential units or other convenient accommodation options might consider an inpatient stay for education. However, this needs to be balanced with the costs of hospitalization and the risks of cross-infection in CF. Nonresidential programs are clearly another option. Indeed, the Royal Children's Hospital has recently built a Family Resource Center that has become an alternative "home base" to residential care for some of our families with more recent diagnoses. Facilities at the Family Resource Center include a lounge, a kitchen and meals area, a business center (for access to the Internet, e-mail, photocopying, or faxing), and privacy cubicles for parent resting and infant feeding.

It seems likely that the setting (residential vs nonresidential) and the exact duration are less relevant than the context and content of the program, particularly how well the program supports parents through this difficult time and how well it assists parents to engage with their child's ongoing health care. Mitchell and Sloper²⁸ reported how commonly families' needs for information remain unmet by traditional clinical approaches to health education. It thus is not surprising that a "one-off" lecture in the outpatient setting was not adequate at meeting the complex requirements of families for education and support at the time of the diagnosis of CF.³ Repetition of health information within a caring environment seems necessary for families to deal with the complex information required to manage a child with CF in the short term²⁶ and to adapt to the ongoing emotional demands of this diagnosis.^1,2,21 Although parents from our study valued not having to travel and the benefits of a home base, this may be less of an issue if little traveling is required.

A concern that continues to be raised about newborn screening is the potential capacity for it to harm by adversely affecting parental bonding and communication with their child.^6,9,29 Reports of "phenylketonuria anxiety syndrome" and "vulnerable child syndrome" from previously introduced newborn screening programs (phenylketonuria, hypothyroidism) highlight these concerns.^30,31 However, there is no evidence to support this view in relationship to CF.^17,32 In our setting, we have had little difficulty convincing parents about the significance of the diagnosis of CF or the importance of participation in assessment and education, and we have seen no evidence of disturbed parent–child bonding. However, regardless of cross-infection concerns, it could be argued that hospital admission (to a ward) could inappropriately emphasize the severity of illness at the time of diagnosis. We believe that our program reinforces the significance of the diagnosis without suggesting that the infant is unwell at this time.

Although there are various approaches to intensive parent education, programs that are supported by parents and that have been evaluated as achieving their goals should be considered as reaching a minimum standard in education, counseling, and support. Additional evaluation of approaches to CF assessment and education are indicated, as it may be that the success of this program could be achieved using a range of other approaches, especially in relationship to the role of our newly developed Family Resource Center as an alternative to residential care for some parents who live locally.

This program is for parents of children with CF. However, intensive parent education is similarly indicated for a range of pediatric chronic conditions that require parents to take on significant treatment roles. Documentation and evaluation of these programs seem equally indicated.

	ACKNOWLEDGMENTS

 
Current and past members of the CF team at the Royal Children's Hospital are warmly acknowledged for their role in the development and implementation of the newborn assessment and education program. Dr Richard Parad is gratefully acknowledged for his encouragement in preparing this manuscript.

	FOOTNOTES

 
Received for publication May 22, 2003; Accepted Dec 29, 2003.

Reprint requests to (S.S.) Centre for Adolescent Health, 2 Gatehouse St, Parkville, Victoria 3052, Australia. E-mail: susan.sawyer{at}rch.org.au

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This Article Abstract Full Text (PDF) P3Rs: Submit a response Alert me when this article is cited Alert me when P3Rs are posted Alert me if a correction is posted Citation Map Services E-mail this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed Alert me to new issues of the journal Add to My File Cabinet Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via ISI Web of Science (3) Citing Articles via Google Scholar Google Scholar Articles by Sawyer, S. M. Articles by Glazner, J. A. Search for Related Content PubMed PubMed Citation Articles by Sawyer, S. M. Articles by Glazner, J. A. Related Collections Respiratory Tract

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