- Email: [email protected]
Adult patient perspectives on phenylketonuria care: Highlighting the need for dedicated adult management and services
Journal Pre-proof Adult patient perspectives on phenylketonuria care: Highlighting the need for dedicated adult management and services Jessica S. Suddaby, Dorsa Sohaei, Heather Bell, Sandra Tavares, Grace Jieun Lee, Marta Szybowska, Joyce So PII:
S1769-7212(19)30253-8
DOI:
https://doi.org/10.1016/j.ejmg.2019.103818
Reference:
EJMG 103818
To appear in:
European Journal of Medical Genetics
Received Date: 11 April 2019 Revised Date:
2 October 2019
Accepted Date: 24 November 2019
Please cite this article as: J.S. Suddaby, D. Sohaei, H. Bell, S. Tavares, G.J. Lee, M. Szybowska, J. So, Adult patient perspectives on phenylketonuria care: Highlighting the need for dedicated adult management and services, European Journal of Medical Genetics (2019), doi: https://doi.org/10.1016/ j.ejmg.2019.103818. This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. © 2019 Published by Elsevier Masson SAS.
Adult patient perspectives on phenylketonuria care: highlighting the need for dedicated adult management and services
Jessica S. Suddaby1, Dorsa Sohaei1, Heather Bell1, Sandra Tavares1, Grace Jieun Lee1, Marta Szybowska1, *Joyce So1,2,3
1. Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, 60 Murray Street, Box 34, 3rd Floor, Room 400, Toronto, ON, M5T 3L9, Canada. 2. Centre for Addiction and Mental Health, Toronto, Canada. 3. Departments of Medicine, Psychiatry, and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada.
*Corresponding author: Joyce So, The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, 60 Murray Street, Box 34, Toronto, ON M5T 3L9, Canada Telephone: 416-586-4800 x4220 Fax: 416-619-5523 Email: [email protected]
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Abstract Phenylketonuria (PKU) is an autosomal recessive metabolic disorder characterized by an inability to metabolize the amino acid phenylalanine (Phe). If left untreated, an accumulation of Phe results in neurodevelopmental, neurological and psychological impairments. Advancements in detection and treatment of PKU have improved outcomes and life expectancy for these patients, emphasizing the need for life-long, specialized care. Due to the paucity of adult-focused PKU clinics, patients who are well into adulthood are still being treated in pediatric centers. This retrospective study evaluates the perceived expectations, benefits and challenges of 50 adult PKU patients (mean age 31.3 ± 10.4 years) transitioning from a pediatric to adult care setting using a transition questionnaire administered at the first clinic visit at the adult PKU care center. Patients reported a lack of access to adult resources and adultspecific PKU educational material in their pediatric PKU clinic. In contrast, the established relationships with the pediatric health care team and familiarity with treatment plans were aspects of pediatric care that patients enjoyed. The results from this study will contribute to the optimization of adult PKU patient care, establishment of strategies for transitioning adults with PKU and other metabolic disorders from pediatric to adult care, and support the need to establish adult-only PKU care facilities.
Key words Phenylketonuria, adult, transition of care.
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Introduction Phenylketonuria (PKU; OMIM 261600) is a rare autosomal recessive metabolic disease characterized by a deficiency in the liver enzyme phenylalanine hydroxylase (PAH). PAH deficiency results in elevated levels of the amino acid phenylalanine (Phe) in the blood and other tissues, which can lead to neurodevelopmental, neurological and neuropsychiatric impairment, as well as other medical issues, such as eczema and osteopenia, if left untreated. Advances in disease knowledge and treatment have led to improved outcomes for patients with PKU. The current guidelines for PKU management require life-long control of Phe levels to obtain the best possible cognitive outcomes and to avoid comorbidities (Camp et al., 2014; Vockley et al., 2014). In North America alone, an estimated 200 PKU patients enter adulthood each year (Hanley, 2004). Clinical management for this growing population, however, largely remains within pediatric centers of care, as specialized adult centers of care for PKU and other rare metabolic conditions are scarce (Mütze et al., 2011; Trefz et al., 2014). Studies on the transition of adult PKU patients from pediatric to adult care centers are limited, particularly in North America. In two studies, Mütze et al. reported on the retrospective satisfaction of German adult PKU patients who had been transferred from a pediatric to adult setting several years earlier (Mütze et al., 2011; Mütze et al., 2016). However, data regarding patients’ perspectives during the transition period was limited and there have been no studies to date on adult PKU patients’ expectations of an adult PKU clinic. A comprehensive understanding of adult patients’ perspectives may provide insight into existing aspects of pediatric care that are beneficial, identify areas for improvement of PKU care in adulthood and provide support for the establishment of adult-only PKU centers of care.
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In this study, we evaluate the challenges perceived by adult PKU patients extending from long-term follow-up as adults in a pediatric care facility, perceived benefits of both pediatric and adult settings, and patient expectations of an adult care facility.
Methods Data collection Quantitative and qualitative data regarding perceived expectations, benefits and challenges of adult (≥ 17.5 years of age) PKU patients transitioning from pediatric to adult clinical care between May 2017 and January 2019 was extracted from a transition questionnaire (Supplementary Data 1) administered during the patients’ first adult PKU clinic visits. The questionnaire was administered for quality improvement purposes to aid in establishing the Adult PKU Clinic at the University Health Network (UHN; Toronto, Canada); adult PKU patients in the Greater Toronto Area and beyond in the province of Ontario, Canada were previously followed through metabolic or PKU clinics based in pediatric facilities. Demographic data was extracted from patient charts, including age of PKU diagnosis, age at first clinic visit, gender and highest level of education. Informed patient consent was obtained for this study, which received UHN research ethics board approval. Quantitative data analysis Statistical analysis was performed using Microsoft Excel 2016 software. Descriptive statistical analysis was conducted to assess the data for normality, completeness and to calculate basic statistics. Comparative analysis was performed to determine any differences in perceptions based on patient demographics. Qualitative data analysis
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Free-text comments were analyzed using thematic analysis (Braun and Clarke, 2006), whereby coding and theme development were driven by the content of the comments. The data was divided into responses from each of the subjective comment boxes, creating four data sets. These data sets were analyzed separately for themes. Two study team members (JSS, DS) familiarized themselves with the data for each comment box by reading all the responses. Comments were then coded by each team member separately by identifying and recording any recurring words or entities of meaning. Any coding discrepancies were discussed and a consensus reached.
Results Demographic Data A total of 61 adult PKU patients who were transferred from pediatric to adult clinical care within the time frame of the study completed the transition questionnaire. Of these, 50 patients consented to participate in this study. The age range of the patient study population was 17-53 years. The mean age at first adult clinic visit was 31.3 years (± 10.4). The mean age of PKU diagnosis was 7.3 weeks (± 37.6) with a range of 0 days to 260 weeks (5 years). Participants were predominantly female (66.0%). Highest level of educational attainment was university undergraduate degree for 36%, college program/diploma for 34%, high school diploma for 20%, Master’s degree for 6% and trade school studies for 2%. One patient was still in high school at the time of entering the study. Of the 50 patients, 47 (94%) patients were transferred from the Hospital for Sick Children (Toronto, Canada), while three (6%) were transferred from other pediatric clinics or centers in the province of Ontario, Canada.
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Quantitative Analysis The quantitative transition questionnaire data (Table 1) address patient perspectives regarding what was most challenging and most beneficial about receiving PKU care as adults in a pediatric hospital. The most challenging aspect of being an adult treated in a pediatric PKU clinic (Table 1a) was the inability for the medical team to refer to appropriate adult services; 14 of 46 (30.4%) patients ranked this as most challenging. The least challenging aspect was being embarrassed about receiving care in a pediatric hospital; 2 of 46 (4.3%) patients ranked this as the most challenging. Four patients did not provide responses to this question. The most beneficial aspect of being an adult treated in a pediatric PKU clinic (Table 1b) was the long and established relationship with their pediatric team; 30 of 50 (60%) patients ranked this as the most beneficial. The least beneficial aspect was the warm and animated environment of a children's hospital; no patients ranked this as the most beneficial. Qualitative Analysis Free-text themes are illustrated with quotes in Table 2. A total of 35 out of 50 patients (70%) responded with free text to question 2 regarding challenges of being an adult receiving PKU care at a pediatric center (Table 2a). Sixteen patients stated that they had no problems to report. The most common thematic response was age-related concerns (n = 11), such as lack of addressing maternal PKU, diet changes with age and a desire for educational opportunities, such as low-protein cooking workshops. Thirty out of 50 patients (60%) responded with free text to question 4 regarding benefits of being an adult receiving PKU care at a pediatric center (Table
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2b). The most common thematic response was familiarity and continuous relationship with the staff (i.e. doctors, nurses, dietitians) (n = 13). Thirty-five of 50 patients (70%) responded with free text to question 5 regarding any other comment that patients may have about their experiences as an adult in a pediatric PKU clinic (Table 2c). Thirteen patients stated that they had no additional comments. The most common themes were optimism towards the transition to adult care (n = 5), having a good relationship with pediatric staff (n = 5) and being uncomfortable as an adult at the pediatric clinic (n = 5). Two female patients in the study cohort remarked on the distress they experienced from recurrent discussions of the reproductive implications of PKU while they were in the pediatric setting; one specifically mentioned that she felt it was out of context for her as a child. Over half (56%) of patients expressed that they have specific expectations of the adult PKU center in response to question 6 (Table 2d). The most common expectation was more adult-specific specialized care (n=10), such as a more mature environment, and age-appropriate services and referrals. Three patients specifically expressed a need for improved neuropsychiatric care. An additional three patients commented that they were looking forward to receiving information about pregnancy and maternal PKU through transition to the adult clinic.
Discussion In this study, we assessed the perceived expectations, benefits and challenges of 50 adult PKU patients previously receiving care as adults in pediatric PKU clinics and newly transitioning to an adult PKU clinic. Patients identified adult-specific health and educational resources as priorities for their expectations of an adult PKU 7
clinic, while reflecting on familiarity with the long-term clinical team and treatment plans as benefits of receiving care as adults in a pediatric facility. The most common perceived benefit of receiving care as an adult in a pediatric setting, reflected in both the quantitative and qualitative analysis, was the familiarity and continuous relationship established with the clinical staff at the pediatric PKU clinic. Patients with early-onset chronic diseases who require ongoing care at pediatric centers often develop a strong sense of relationship and familiarity with the pediatric staff. Young people with chronic diseases and their parents have been reported to have difficulty leaving the pediatric environment they have become familiar with over the years (Sparud-Lundin et al., 2008). Overcoming the inertia of stability is one of the greatest barriers to transitioning chronic care patients to a different care environment (Burlina et al., 2000). Mütze et al. showed that a large proportion of PKU patients at their adult PKU clinic claimed to miss the familiarity of the pediatric unit, which had played an important role in their lives (Mütze et al., 2011). While the majority of PKU patients were satisfied with transition from pediatric to adult health care, nearly 60% wished for a visit back to their former pediatric clinic (Mütze et al., 2011). Therefore, it has been suggested that the transition process could be eased and optimized with interdisciplinary consultation involving pediatric and adult specialists (Callahan et al. 2001; Mütze et al. 2011), as well as development of transition policies and early introduction of transition, as early as at 12 years of age (Demirkol et al., 2011). Involving adolescent patients in the transition process as much as possible will enable them to become accustomed to an environment in which they take charge of their own healthcare (Viner, 2008). Incorporating these strategies during the transition period could satisfy PKU patients’
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desire to develop familiarity with their clinical care team, while moving towards more adult-specific themes and resources appropriate to their transition to adulthood. The most commonly cited challenge of being an adult PKU patient receiving care at a pediatric center was the lack of adult-specific health and educational resources. Poor dietary control leading to high Phe levels is associated with an increased prevalence of neuropsychiatric symptoms and cognitive deficits in adult PKU patients (Bilder et al., 2016), leading to differentiating primary deficits between pediatric and adult PKU patients. While pediatric and adolescent PKU patients may have difficulties with attention, school, social exclusion, achievement, motivation, autonomy and self-esteem, adult PKU patients may develop depression, generalized anxiety, phobias, social maturity deficits, relationship challenges and social isolation (Brumm et al., 2010; Ford et al., 2018). In addition, non-psychiatric medical issues are more prevalent in adult PKU patients compared to healthy controls (Burton et al., 2018), highlighting the need for adult-specific management in both the medical and psychiatric context. As psychosocial and medical needs evolve from childhood (e.g. neurodevelopmental) to adulthood (e.g. neuropsychiatric, reproductive), it is essential for adult PKU patients to have a structured transition and access to a health care team that can offer adult-oriented resources (Cazzorla et al., 2018). Specific needs and expectations identified by patients in this study include access to an adult-oriented multidisciplinary team, including a geneticist, genetic counselor, social worker, and registered dietitian, familiar with resources for adults, referrals to adult specialists, advice on diet and cooking, and guidance through family planning, as well as a desire to be amongst chronological peers with shared experiences. Our empirical experience has been that many adult patients have expressed appreciation for the genetic counseling provided by our team, as this information had been typically relayed early
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on to their parents rather than directly to them in the pediatric setting, and was not repeated to them in adulthood. Along with patient feedback regarding the need for improved mental health care and contextually timed reproductive counseling, there is a definitive need for genetic counseling and management of adult PKU patients in an adult-specific clinic setting. This will ensure timely access to pregnancy and maternal PKU management, partner carrier testing and referral to appropriate adult services. It is important to note adult patients’ desire for more age-appropriate educational resources, as constant patient education for PKU patients is required to achieve recommended therapeutic targets and improve patient outcomes (Mütze et al., 2016). Initiatives such as educational camps or themed workshops offered at regular intervals could provide updated information and offer opportunities for social networking amongst adults with PKU. In our clinic, we have piloted cooking and restaurant workshops that have been received well by patients, who reported an increase in knowledge through the events and appreciation for the opportunities to socialize with other adults with PKU (Supplementary Data 2). As with any study of rare genetic disorders, our study is limited by sample size. In addition, response rates to the qualitative questions on our questionnaire reached only 56-70%, further limiting the power of the study. Additional studies with larger sample sizes would be required to replicate and validate the themes identified in this study. More research is also needed to determine the most beneficial educational approaches for adult PKU patients. Furthermore, it was not possible to interpret whether unanswered questions were due to patients not having any comments, feeling that there were no challenges, benefits and/or expectations, or not understanding the question. The revision of the questionnaire to include options for
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indicating “no (additional) comment” or “there are no (additional) benefits/challenges/expectations” may aid in minimizing this issue in the future. The process of transition of patients with chronic diseases from pediatric to adult care is complex. Adolescent and adult PKU patients have been shown to have decreased autonomy compared to their healthy peers (Brumm et al., 2010). As the high burden of care shifts from caregivers of pediatric PKU patients to the patients themselves as they enter adulthood (Ford et al., 2018), patients who are poorly transitioned with respect to taking more responsibility for their own health care are often lost to follow-up (Davies et al., 2011), leading to poorer outcomes. Despite limited data, preliminary evidence suggests that structured transition programs improve patient knowledge, self-confidence and self-efficacy with respect to their own healthcare (Campbell et al., 2016). In addition, individuals who are going through the transition want to be included in the process and want health care providers who will be attentive to their needs (Betz et al., 2013). Therefore, taking patients’ perspectives into account with respect to the transition process is critical. While adult PKU patients perceive a loss of familiarity with leaving their pediatric care centers, they are optimistic about the transition to adult care, with desired focus on adult-centered health and education resources, and increased social support. The results of this study support the need to establish adult-only PKU clinics that can provide an adult-focused multidisciplinary team, access to appropriate adult services and resources, as well as opportunities for adults to interact with their peers. The insights garnered in this study from PKU patients who are well into adulthood will also aid in the development of transition processes for adolescent PKU patients to adult care in anticipation of their perspectives and needs in adulthood, which may also be applicable to transition of care in other metabolic diseases.
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Acknowledgements: This study was supported by funds donated by BioMarin Pharmaceuticals Inc. to the Toronto General and Western Hospital Foundation. We are grateful to Emily Di Giovanni for her assistance with patient recruitment.
Details of the contributions of individual authors: Jessica Suddaby and Dorsa Sohaei contributed to the data acquisition, analysis and interpretation, and drafting and revision of the work. Heather Bell and Sandra Tavares contributed to the conception, design and revision of the work. Grace Jieun Lee and Marta Szybowska contributed to the design and revision of the work. Joyce So contributed to the conception, design, data interpretation, drafting and revision of the work. All authors have approved the final version to be published and agree to be accountable for all aspects of the work.
Conflict of Interest: Jessica Suddaby, Dorsa Sohaei, Heather Bell, Sandra Tavares, Grace Jieun Lee, Marta Szybowska, and Joyce So declare that they have no conflict of interest.
Human Studies and Informed Consent: All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use - Good Clinical Practice (ICH-GCP) (European Medicines Agency. ICH Harmonised Tripartite Guideline E6: Note for Guidance on
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Good Clinical Practice (PMP/ICH/135/95). London: European Medicines Agency, 2002.). Informed consent was obtained from all patients for inclusion in the study. This study was approved by the Research Ethics Board of the University Health Network (Toronto, Canada).
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Supplementary Data Supplementary Data 1. PKU Transition Questionnaire. Supplementary Data 2. PKU workshop pre- and post-survey results. (a) PKU cooking course pre- and post-survey. All questions were rated on a Likert scale from 1 to 5, 1 being not helpful/not confident, 5 being very helpful/very confident. (b) Mean pre- and post-survey results of cooking workshop. (c) PKU restaurant workshop pre- and post-survey. All questions were rated on a Likert scale from 1 to 5, 1 being not helpful/not confident, 5 being very helpful/very confident. (d) Mean preand post-survey results of restaurant event.
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Tables
Table 1. Quantitative transition questionnaire results. (a) Challenges of being an adult PKU patient in paediatric care (question 1 on questionnaire, n = 46). Rank the top 7 challenges/difficulties for you Frequency as an adult receiving care in a children’s as most Mean (SD) Mode challenging hospital. (1 being most challenging and 7 the least) (%) Inability for medical team to refer to appropriate adult services
3.1 (1.9)
1
30.4
Availability of having someone to speak to about personal issues
3.3 (2.1)
1
23.9
Lack of age-appropriate PKU education material
3.5 (2.0)
2
16.7
Medical team had paediatric training only
3.9 (1.7)
3
6.4
Sitting in waiting rooms with children and/or their parents
4.8 (1.8)
6
6.5
Being in a child-themed environment
4.9 (1.8)
6
6.5
Embarrassment about receiving care in paediatric hospital
5.3 (1.9)
7
4.3
(b) Benefits of being an adult PKU patient in paediatric care (question 3 on questionnaire, n = 50). Rank the top 5 benefits/positive experiences for you as an adult receiving care in a children’s hospital. (1 being most beneficial and 5 the least)
Mean (SD)
Mode
Frequency as most beneficial (%)
Long and established relationship with my paediatric team
1.6 (0.8)
1
60.0
Being familiar with the routine for my ongoing care and knowing the environment
2.1 (1.1)
1
40.0
Comfort level speaking with my paediatric team
2.9 (1.1)
2
4.1
Paediatric health care team had the best knowledge and experience to meet my needs
3.6 (1.0)
4
6.1
Warm and animated environment of a children's hospital
4.4 (1.0)
5
0
Table 2. Qualitative transition questionnaire results. (a) Summary of themes regarding challenges of being an adult PKU patient at a paediatric centre (question 2 on transition questionnaire, n = 35). Themes
No problems/not applicable
Age-related concerns (e.g. maternal PKU, diet changing with age, educational opportunities)
Not a priority (e.g. rushed appointments, lack of appointments, children seen as more important)
Lack of social support (e.g. alone/lonely, lack of chronological peers)
Communication
Number of Comments
16
11
4
2
2
Being around children
2
Not addressing patient’s concerns (e.g. focus on maternal PKU rather than current concerns)
2
Quotes (Gender, Age) “I didn't have any other major challenges as an adult at the children's hospital. In fact, it would remind me of old times.” Female, 22 “I rarely had the opportunity to hear about low-protein cooking workshops or other events/educational opportunities geared towards adult patients. Meeting other people my age with PKU was also a challenge.” Female, 23 “[It] seemed like once I past childhood, clinic visits were no longer beneficial, frequently rushed…” Male, 51 “There were not many opportunities to share experiences with other adult patients; for example, most PKU events were focused on children and parents. Feeling like the only adult in a paediatric clinic made me feel solely responsible or alone in my treatment.” Female, 22 Just needed more communication. For example, email [to the] dietitian with questions or concerns need[s] immediate response.” Female, 47 “Kids crying at the lab for bloodwork made [me] nervous.” Female, 33 “I didn’t feel as though I was briefed on the psychological toll of going off-diet. I felt as though the consequences surrounding PKU were presented to me only in relation to being a developing child or a
pregnant woman. I felt I had to learn about mental health consequences the hard way, and it is a lesson I am still learning.” Female, 26
Quality of care
1
“I felt that the care I received was good due to the environment but there was an inability to address my agerelated concerns. This made me concerned about the overall quality of care I was able to access.” Female, 50
(b) Summary of themes regarding benefits of being an adult PKU patient in a paediatric centre (question 4 on transition questionnaire, n = 30). Themes
Familiarity/continuous relationship with staff
No/not applicable
Caring/thoughtful/valued
Facility is fun/comforting
Number of Comments
13
10
3
2
Quotes (Gender, Age) “My most positive experience at SickKids was becoming familiar with my medical team and knowing that they are aware of my history, routine, successes, etc.” Female, 22 “No, I think those are all the benefits.” Female, 17 “[The] team trusted and looked for/valued my insight into my care, [the] team had a strong understanding of the challenges faced with PKU.” Female, 37 “Though I had concerns about the quality of care I felt comfortable in the children's hospital and looked forward to seeing everyone each year.” Female, 50
Availability of specialty foods store
2
“I loved seeing SickKids and having the speciality food store available for me.” Female, 50
Children enjoy the environment
1
“My children enjoyed the atmosphere and amenities.” Female, 28
(c) Summary of themes regarding other comments about experiences as an adult PKU patient in a paediatric clinic (question 5 on transition questionnaire, n = 35). Themes No/not applicable
Optimistic about the transition
Good relationship with paediatric staff (friendly/attentive staff)
Uncomfortable as an adult at the paediatric clinic
Comfortable/familiar with the paediatric clinic environment
Lack of age-related care
Curious about adult clinic
Paediatric care is more beneficial
Number of Comments 13
5
5
5
3
3
1
1
Quotes (Gender, Age) “No, I think it’s all covered.” Male, 42 “I am so glad to be in an adult clinic now where I know I will be better service[d].” Female, 50 “I have always had a positive experience at SickKids and enjoyed a great relationship with my entire team.” Female, 22 “You feel like a bit of a creep being in a children's facility without a child.” Female, 38 “I never had any issue with being cared for in a children’s hospital.” Female, 29 “I found that I didn't get a lot of help transitioning into my adult years especially after turning 18 and going off to school because the care was more centred around child or teenage years.” Female, 22 “Interested in more information on how appointment wait time will change if at all.” Male, 31 “Depending on the patient a children's hospital could actually be more beneficial.” Male, 20
(d) Summary of themes regarding the specific expectations that adult PKU patients
may have of the adult PKU clinic (question 6 on transition questionnaire, n = 28). Themes
Number of Comments
More adult specialised care (e.g. environment/referrals/services)
10
Better communication/contact
More social support
Quality of care
Education
Different perspective
Comfort/familiarity
5
4
Quotes (Gender, Age) “More age appropriate information and access to better care options outside the hospital. Being treated like an adult.” Female, 38 “Someone who I can email directly if I have questions about my diet or concerns with blood work. Someone who I can talk over email or phone with about food logs, and patterns in my levels, etc.” Female, 26 “I am hopeful that I would be able to take advantage of a social worker who understands adult issues.” Male, 52
4
“Just...give at least as good quality care as I am used to, if not better.” Female, 35
3
“Connection to resources where I can learn more about PKU in terms of health and fitness.” Female, 26
1
1
“Really looking forward to perhaps some different thinking/angles - maybe related to new treatments/studies, etc. for adults.” Male, 51 “I expect that over time all of the comfort and familiarity from SickKids will exist with the adult team.” Female, 37
S1769-7212(19)30253-8
DOI:
https://doi.org/10.1016/j.ejmg.2019.103818
Reference:
EJMG 103818
To appear in:
European Journal of Medical Genetics
Received Date: 11 April 2019 Revised Date:
2 October 2019
Accepted Date: 24 November 2019
Please cite this article as: J.S. Suddaby, D. Sohaei, H. Bell, S. Tavares, G.J. Lee, M. Szybowska, J. So, Adult patient perspectives on phenylketonuria care: Highlighting the need for dedicated adult management and services, European Journal of Medical Genetics (2019), doi: https://doi.org/10.1016/ j.ejmg.2019.103818. This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. © 2019 Published by Elsevier Masson SAS.
Adult patient perspectives on phenylketonuria care: highlighting the need for dedicated adult management and services
Jessica S. Suddaby1, Dorsa Sohaei1, Heather Bell1, Sandra Tavares1, Grace Jieun Lee1, Marta Szybowska1, *Joyce So1,2,3
1. Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, 60 Murray Street, Box 34, 3rd Floor, Room 400, Toronto, ON, M5T 3L9, Canada. 2. Centre for Addiction and Mental Health, Toronto, Canada. 3. Departments of Medicine, Psychiatry, and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada.
*Corresponding author: Joyce So, The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, 60 Murray Street, Box 34, Toronto, ON M5T 3L9, Canada Telephone: 416-586-4800 x4220 Fax: 416-619-5523 Email: [email protected]
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Abstract Phenylketonuria (PKU) is an autosomal recessive metabolic disorder characterized by an inability to metabolize the amino acid phenylalanine (Phe). If left untreated, an accumulation of Phe results in neurodevelopmental, neurological and psychological impairments. Advancements in detection and treatment of PKU have improved outcomes and life expectancy for these patients, emphasizing the need for life-long, specialized care. Due to the paucity of adult-focused PKU clinics, patients who are well into adulthood are still being treated in pediatric centers. This retrospective study evaluates the perceived expectations, benefits and challenges of 50 adult PKU patients (mean age 31.3 ± 10.4 years) transitioning from a pediatric to adult care setting using a transition questionnaire administered at the first clinic visit at the adult PKU care center. Patients reported a lack of access to adult resources and adultspecific PKU educational material in their pediatric PKU clinic. In contrast, the established relationships with the pediatric health care team and familiarity with treatment plans were aspects of pediatric care that patients enjoyed. The results from this study will contribute to the optimization of adult PKU patient care, establishment of strategies for transitioning adults with PKU and other metabolic disorders from pediatric to adult care, and support the need to establish adult-only PKU care facilities.
Key words Phenylketonuria, adult, transition of care.
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Introduction Phenylketonuria (PKU; OMIM 261600) is a rare autosomal recessive metabolic disease characterized by a deficiency in the liver enzyme phenylalanine hydroxylase (PAH). PAH deficiency results in elevated levels of the amino acid phenylalanine (Phe) in the blood and other tissues, which can lead to neurodevelopmental, neurological and neuropsychiatric impairment, as well as other medical issues, such as eczema and osteopenia, if left untreated. Advances in disease knowledge and treatment have led to improved outcomes for patients with PKU. The current guidelines for PKU management require life-long control of Phe levels to obtain the best possible cognitive outcomes and to avoid comorbidities (Camp et al., 2014; Vockley et al., 2014). In North America alone, an estimated 200 PKU patients enter adulthood each year (Hanley, 2004). Clinical management for this growing population, however, largely remains within pediatric centers of care, as specialized adult centers of care for PKU and other rare metabolic conditions are scarce (Mütze et al., 2011; Trefz et al., 2014). Studies on the transition of adult PKU patients from pediatric to adult care centers are limited, particularly in North America. In two studies, Mütze et al. reported on the retrospective satisfaction of German adult PKU patients who had been transferred from a pediatric to adult setting several years earlier (Mütze et al., 2011; Mütze et al., 2016). However, data regarding patients’ perspectives during the transition period was limited and there have been no studies to date on adult PKU patients’ expectations of an adult PKU clinic. A comprehensive understanding of adult patients’ perspectives may provide insight into existing aspects of pediatric care that are beneficial, identify areas for improvement of PKU care in adulthood and provide support for the establishment of adult-only PKU centers of care.
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In this study, we evaluate the challenges perceived by adult PKU patients extending from long-term follow-up as adults in a pediatric care facility, perceived benefits of both pediatric and adult settings, and patient expectations of an adult care facility.
Methods Data collection Quantitative and qualitative data regarding perceived expectations, benefits and challenges of adult (≥ 17.5 years of age) PKU patients transitioning from pediatric to adult clinical care between May 2017 and January 2019 was extracted from a transition questionnaire (Supplementary Data 1) administered during the patients’ first adult PKU clinic visits. The questionnaire was administered for quality improvement purposes to aid in establishing the Adult PKU Clinic at the University Health Network (UHN; Toronto, Canada); adult PKU patients in the Greater Toronto Area and beyond in the province of Ontario, Canada were previously followed through metabolic or PKU clinics based in pediatric facilities. Demographic data was extracted from patient charts, including age of PKU diagnosis, age at first clinic visit, gender and highest level of education. Informed patient consent was obtained for this study, which received UHN research ethics board approval. Quantitative data analysis Statistical analysis was performed using Microsoft Excel 2016 software. Descriptive statistical analysis was conducted to assess the data for normality, completeness and to calculate basic statistics. Comparative analysis was performed to determine any differences in perceptions based on patient demographics. Qualitative data analysis
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Free-text comments were analyzed using thematic analysis (Braun and Clarke, 2006), whereby coding and theme development were driven by the content of the comments. The data was divided into responses from each of the subjective comment boxes, creating four data sets. These data sets were analyzed separately for themes. Two study team members (JSS, DS) familiarized themselves with the data for each comment box by reading all the responses. Comments were then coded by each team member separately by identifying and recording any recurring words or entities of meaning. Any coding discrepancies were discussed and a consensus reached.
Results Demographic Data A total of 61 adult PKU patients who were transferred from pediatric to adult clinical care within the time frame of the study completed the transition questionnaire. Of these, 50 patients consented to participate in this study. The age range of the patient study population was 17-53 years. The mean age at first adult clinic visit was 31.3 years (± 10.4). The mean age of PKU diagnosis was 7.3 weeks (± 37.6) with a range of 0 days to 260 weeks (5 years). Participants were predominantly female (66.0%). Highest level of educational attainment was university undergraduate degree for 36%, college program/diploma for 34%, high school diploma for 20%, Master’s degree for 6% and trade school studies for 2%. One patient was still in high school at the time of entering the study. Of the 50 patients, 47 (94%) patients were transferred from the Hospital for Sick Children (Toronto, Canada), while three (6%) were transferred from other pediatric clinics or centers in the province of Ontario, Canada.
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Quantitative Analysis The quantitative transition questionnaire data (Table 1) address patient perspectives regarding what was most challenging and most beneficial about receiving PKU care as adults in a pediatric hospital. The most challenging aspect of being an adult treated in a pediatric PKU clinic (Table 1a) was the inability for the medical team to refer to appropriate adult services; 14 of 46 (30.4%) patients ranked this as most challenging. The least challenging aspect was being embarrassed about receiving care in a pediatric hospital; 2 of 46 (4.3%) patients ranked this as the most challenging. Four patients did not provide responses to this question. The most beneficial aspect of being an adult treated in a pediatric PKU clinic (Table 1b) was the long and established relationship with their pediatric team; 30 of 50 (60%) patients ranked this as the most beneficial. The least beneficial aspect was the warm and animated environment of a children's hospital; no patients ranked this as the most beneficial. Qualitative Analysis Free-text themes are illustrated with quotes in Table 2. A total of 35 out of 50 patients (70%) responded with free text to question 2 regarding challenges of being an adult receiving PKU care at a pediatric center (Table 2a). Sixteen patients stated that they had no problems to report. The most common thematic response was age-related concerns (n = 11), such as lack of addressing maternal PKU, diet changes with age and a desire for educational opportunities, such as low-protein cooking workshops. Thirty out of 50 patients (60%) responded with free text to question 4 regarding benefits of being an adult receiving PKU care at a pediatric center (Table
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2b). The most common thematic response was familiarity and continuous relationship with the staff (i.e. doctors, nurses, dietitians) (n = 13). Thirty-five of 50 patients (70%) responded with free text to question 5 regarding any other comment that patients may have about their experiences as an adult in a pediatric PKU clinic (Table 2c). Thirteen patients stated that they had no additional comments. The most common themes were optimism towards the transition to adult care (n = 5), having a good relationship with pediatric staff (n = 5) and being uncomfortable as an adult at the pediatric clinic (n = 5). Two female patients in the study cohort remarked on the distress they experienced from recurrent discussions of the reproductive implications of PKU while they were in the pediatric setting; one specifically mentioned that she felt it was out of context for her as a child. Over half (56%) of patients expressed that they have specific expectations of the adult PKU center in response to question 6 (Table 2d). The most common expectation was more adult-specific specialized care (n=10), such as a more mature environment, and age-appropriate services and referrals. Three patients specifically expressed a need for improved neuropsychiatric care. An additional three patients commented that they were looking forward to receiving information about pregnancy and maternal PKU through transition to the adult clinic.
Discussion In this study, we assessed the perceived expectations, benefits and challenges of 50 adult PKU patients previously receiving care as adults in pediatric PKU clinics and newly transitioning to an adult PKU clinic. Patients identified adult-specific health and educational resources as priorities for their expectations of an adult PKU 7
clinic, while reflecting on familiarity with the long-term clinical team and treatment plans as benefits of receiving care as adults in a pediatric facility. The most common perceived benefit of receiving care as an adult in a pediatric setting, reflected in both the quantitative and qualitative analysis, was the familiarity and continuous relationship established with the clinical staff at the pediatric PKU clinic. Patients with early-onset chronic diseases who require ongoing care at pediatric centers often develop a strong sense of relationship and familiarity with the pediatric staff. Young people with chronic diseases and their parents have been reported to have difficulty leaving the pediatric environment they have become familiar with over the years (Sparud-Lundin et al., 2008). Overcoming the inertia of stability is one of the greatest barriers to transitioning chronic care patients to a different care environment (Burlina et al., 2000). Mütze et al. showed that a large proportion of PKU patients at their adult PKU clinic claimed to miss the familiarity of the pediatric unit, which had played an important role in their lives (Mütze et al., 2011). While the majority of PKU patients were satisfied with transition from pediatric to adult health care, nearly 60% wished for a visit back to their former pediatric clinic (Mütze et al., 2011). Therefore, it has been suggested that the transition process could be eased and optimized with interdisciplinary consultation involving pediatric and adult specialists (Callahan et al. 2001; Mütze et al. 2011), as well as development of transition policies and early introduction of transition, as early as at 12 years of age (Demirkol et al., 2011). Involving adolescent patients in the transition process as much as possible will enable them to become accustomed to an environment in which they take charge of their own healthcare (Viner, 2008). Incorporating these strategies during the transition period could satisfy PKU patients’
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desire to develop familiarity with their clinical care team, while moving towards more adult-specific themes and resources appropriate to their transition to adulthood. The most commonly cited challenge of being an adult PKU patient receiving care at a pediatric center was the lack of adult-specific health and educational resources. Poor dietary control leading to high Phe levels is associated with an increased prevalence of neuropsychiatric symptoms and cognitive deficits in adult PKU patients (Bilder et al., 2016), leading to differentiating primary deficits between pediatric and adult PKU patients. While pediatric and adolescent PKU patients may have difficulties with attention, school, social exclusion, achievement, motivation, autonomy and self-esteem, adult PKU patients may develop depression, generalized anxiety, phobias, social maturity deficits, relationship challenges and social isolation (Brumm et al., 2010; Ford et al., 2018). In addition, non-psychiatric medical issues are more prevalent in adult PKU patients compared to healthy controls (Burton et al., 2018), highlighting the need for adult-specific management in both the medical and psychiatric context. As psychosocial and medical needs evolve from childhood (e.g. neurodevelopmental) to adulthood (e.g. neuropsychiatric, reproductive), it is essential for adult PKU patients to have a structured transition and access to a health care team that can offer adult-oriented resources (Cazzorla et al., 2018). Specific needs and expectations identified by patients in this study include access to an adult-oriented multidisciplinary team, including a geneticist, genetic counselor, social worker, and registered dietitian, familiar with resources for adults, referrals to adult specialists, advice on diet and cooking, and guidance through family planning, as well as a desire to be amongst chronological peers with shared experiences. Our empirical experience has been that many adult patients have expressed appreciation for the genetic counseling provided by our team, as this information had been typically relayed early
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on to their parents rather than directly to them in the pediatric setting, and was not repeated to them in adulthood. Along with patient feedback regarding the need for improved mental health care and contextually timed reproductive counseling, there is a definitive need for genetic counseling and management of adult PKU patients in an adult-specific clinic setting. This will ensure timely access to pregnancy and maternal PKU management, partner carrier testing and referral to appropriate adult services. It is important to note adult patients’ desire for more age-appropriate educational resources, as constant patient education for PKU patients is required to achieve recommended therapeutic targets and improve patient outcomes (Mütze et al., 2016). Initiatives such as educational camps or themed workshops offered at regular intervals could provide updated information and offer opportunities for social networking amongst adults with PKU. In our clinic, we have piloted cooking and restaurant workshops that have been received well by patients, who reported an increase in knowledge through the events and appreciation for the opportunities to socialize with other adults with PKU (Supplementary Data 2). As with any study of rare genetic disorders, our study is limited by sample size. In addition, response rates to the qualitative questions on our questionnaire reached only 56-70%, further limiting the power of the study. Additional studies with larger sample sizes would be required to replicate and validate the themes identified in this study. More research is also needed to determine the most beneficial educational approaches for adult PKU patients. Furthermore, it was not possible to interpret whether unanswered questions were due to patients not having any comments, feeling that there were no challenges, benefits and/or expectations, or not understanding the question. The revision of the questionnaire to include options for
10
indicating “no (additional) comment” or “there are no (additional) benefits/challenges/expectations” may aid in minimizing this issue in the future. The process of transition of patients with chronic diseases from pediatric to adult care is complex. Adolescent and adult PKU patients have been shown to have decreased autonomy compared to their healthy peers (Brumm et al., 2010). As the high burden of care shifts from caregivers of pediatric PKU patients to the patients themselves as they enter adulthood (Ford et al., 2018), patients who are poorly transitioned with respect to taking more responsibility for their own health care are often lost to follow-up (Davies et al., 2011), leading to poorer outcomes. Despite limited data, preliminary evidence suggests that structured transition programs improve patient knowledge, self-confidence and self-efficacy with respect to their own healthcare (Campbell et al., 2016). In addition, individuals who are going through the transition want to be included in the process and want health care providers who will be attentive to their needs (Betz et al., 2013). Therefore, taking patients’ perspectives into account with respect to the transition process is critical. While adult PKU patients perceive a loss of familiarity with leaving their pediatric care centers, they are optimistic about the transition to adult care, with desired focus on adult-centered health and education resources, and increased social support. The results of this study support the need to establish adult-only PKU clinics that can provide an adult-focused multidisciplinary team, access to appropriate adult services and resources, as well as opportunities for adults to interact with their peers. The insights garnered in this study from PKU patients who are well into adulthood will also aid in the development of transition processes for adolescent PKU patients to adult care in anticipation of their perspectives and needs in adulthood, which may also be applicable to transition of care in other metabolic diseases.
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Acknowledgements: This study was supported by funds donated by BioMarin Pharmaceuticals Inc. to the Toronto General and Western Hospital Foundation. We are grateful to Emily Di Giovanni for her assistance with patient recruitment.
Details of the contributions of individual authors: Jessica Suddaby and Dorsa Sohaei contributed to the data acquisition, analysis and interpretation, and drafting and revision of the work. Heather Bell and Sandra Tavares contributed to the conception, design and revision of the work. Grace Jieun Lee and Marta Szybowska contributed to the design and revision of the work. Joyce So contributed to the conception, design, data interpretation, drafting and revision of the work. All authors have approved the final version to be published and agree to be accountable for all aspects of the work.
Conflict of Interest: Jessica Suddaby, Dorsa Sohaei, Heather Bell, Sandra Tavares, Grace Jieun Lee, Marta Szybowska, and Joyce So declare that they have no conflict of interest.
Human Studies and Informed Consent: All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use - Good Clinical Practice (ICH-GCP) (European Medicines Agency. ICH Harmonised Tripartite Guideline E6: Note for Guidance on
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Good Clinical Practice (PMP/ICH/135/95). London: European Medicines Agency, 2002.). Informed consent was obtained from all patients for inclusion in the study. This study was approved by the Research Ethics Board of the University Health Network (Toronto, Canada).
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2010. Psychiatric symptoms and disorders in phenylketonuria. Mol. Genet. Metab. https://doi.org/10.1016/j.ymgme.2009.10.182 Burlina, A.B., Bonafé, L., Ferrari, V., Suppiej, A., Zacchello, F., Burlina, A.P., 2000. Measurement of neurotransmitter metabolites in the cerebrospinal fluid of phenylketonuric patients under dietary treatment, in: Journal of Inherited Metabolic Disease. https://doi.org/10.1023/A:1005694122277 Burton, B.K., Jones, K.B., Cederbaum, S., Rohr, F., Waisbren, S., Irwin, D.E., Kim, G., Lilienstein, J., Alvarez, I., Jurecki, E., Levy, H., 2018. Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria. Mol. Genet. Metab. https://doi.org/10.1016/j.ymgme.2018.09.006 Callahan, S.T., Winitzer, R.F., Keenan, P., 2001. Transition from pediatric to adultoriented health care: A challenge for patients with chronic disease. Curr. Opin. Pediatr. https://doi.org/10.1097/00008480-200108000-00004 Camp, K.M., Parisi, M.A., Acosta, P.B., Berry, G.T., Bilder, D.A., Blau, N., Bodamer, O.A., Brosco, J.P., Brown, C.S., Burlina, A.B., Burton, B.K., Chang, C.S., Coates, P.M., Cunningham, A.C., Dobrowolski, S.F., Ferguson, J.H., Franklin, T.D., Frazier, D.M., Grange, D.K., Greene, C.L., Groft, S.C., Harding, C.O., Howell, R.R., Huntington, K.L., Hyatt-Knorr, H.D., Jevaji, I.P., Levy, H.L., Lichter-Konecki, U., Lindegren, M. Lou, Lloyd-Puryear, M.A., Matalon, K., MacDonald, A., McPheeters, M.L., Mitchell, J.J., Mofidi, S., Moseley, K.D., Mueller, C.M., Mulberg, A.E., Nerurkar, L.S., Ogata, B.N., Pariser, A.R., Prasad, S., Pridjian, G., Rasmussen, S.A., Reddy, U.M., Rohr, F.J., Singh, R.H., Sirrs, S.M., Stremer, S.E., Tagle, D.A., Thompson, S.M., Urv, T.K., Utz, J.R., van Spronsen, F., Vockley, J., Waisbren, S.E., Weglicki, L.S., White, D.A., Whitley, C.B., Wilfond, B.S., Yannicelli, S., Young, J.M., 2014.
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Phenylketonuria scientific review conference: State of the science and future research needs, in: Molecular Genetics and Metabolism. https://doi.org/10.1016/j.ymgme.2014.02.013 Campbell, F., Biggs, K., Aldiss, S.K., O’Neill, P.M., Clowes, M., McDonagh, J., While, A., Gibson, F., 2016. Transition of care for adolescents from paediatric services to adult health services (Review). Cochrane Database Syst. Rev. https://doi.org/10.1002/14651858.CD009794.pub2.www.cochranelibrary.com Cazzorla, C., Bensi, G., Biasucci, G., Leuzzi, V., Manti, F., Musumeci, A., Papadia, F., Stoppioni, V., Tummolo, A., Vendemiale, M., Polo, G., Burlina, A., 2018. Living with phenylketonuria in adulthood: The PKU ATTITUDE study. Mol. Genet. Metab. Reports. https://doi.org/10.1016/j.ymgmr.2018.06.007 Davies, N., Rennick, J., Majnemer, A., 2011. Transition from pediatric to adult health care for young adults with neurological disorders: Parental perspectives. Can. J. Neurosci. Nurs. https://doi.org/http://dx.doi.org/10.1111/epi.12229 Demirkol, M., Gizewska, M., Giovannini, M., Walter, J., 2011. Follow up of phenylketonuria patients. Mol. Genet. Metab. https://doi.org/10.1016/j.ymgme.2011.08.005 Ford, S., O’Driscoll, M., MacDonald, A., 2018. Living with Phenylketonuria: Lessons from the PKU community. Mol. Genet. Metab. Reports. https://doi.org/10.1016/j.ymgmr.2018.10.002 Hanley, W.B., 2004. Adult phenylketonuria. Am. J. Med. https://doi.org/10.1016/j.amjmed.2004.03.042 Mütze, U., Roth, A., Weigel, J.F.W., Beblo, S., Baerwald, C.G., Bührdel, P., Kiess, W., 2011. Transition of young adults with phenylketonuria from pediatric to adult care. J. Inherit. Metab. Dis. https://doi.org/10.1007/s10545-011-9284-x
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Supplementary Data Supplementary Data 1. PKU Transition Questionnaire. Supplementary Data 2. PKU workshop pre- and post-survey results. (a) PKU cooking course pre- and post-survey. All questions were rated on a Likert scale from 1 to 5, 1 being not helpful/not confident, 5 being very helpful/very confident. (b) Mean pre- and post-survey results of cooking workshop. (c) PKU restaurant workshop pre- and post-survey. All questions were rated on a Likert scale from 1 to 5, 1 being not helpful/not confident, 5 being very helpful/very confident. (d) Mean preand post-survey results of restaurant event.
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Tables
Table 1. Quantitative transition questionnaire results. (a) Challenges of being an adult PKU patient in paediatric care (question 1 on questionnaire, n = 46). Rank the top 7 challenges/difficulties for you Frequency as an adult receiving care in a children’s as most Mean (SD) Mode challenging hospital. (1 being most challenging and 7 the least) (%) Inability for medical team to refer to appropriate adult services
3.1 (1.9)
1
30.4
Availability of having someone to speak to about personal issues
3.3 (2.1)
1
23.9
Lack of age-appropriate PKU education material
3.5 (2.0)
2
16.7
Medical team had paediatric training only
3.9 (1.7)
3
6.4
Sitting in waiting rooms with children and/or their parents
4.8 (1.8)
6
6.5
Being in a child-themed environment
4.9 (1.8)
6
6.5
Embarrassment about receiving care in paediatric hospital
5.3 (1.9)
7
4.3
(b) Benefits of being an adult PKU patient in paediatric care (question 3 on questionnaire, n = 50). Rank the top 5 benefits/positive experiences for you as an adult receiving care in a children’s hospital. (1 being most beneficial and 5 the least)
Mean (SD)
Mode
Frequency as most beneficial (%)
Long and established relationship with my paediatric team
1.6 (0.8)
1
60.0
Being familiar with the routine for my ongoing care and knowing the environment
2.1 (1.1)
1
40.0
Comfort level speaking with my paediatric team
2.9 (1.1)
2
4.1
Paediatric health care team had the best knowledge and experience to meet my needs
3.6 (1.0)
4
6.1
Warm and animated environment of a children's hospital
4.4 (1.0)
5
0
Table 2. Qualitative transition questionnaire results. (a) Summary of themes regarding challenges of being an adult PKU patient at a paediatric centre (question 2 on transition questionnaire, n = 35). Themes
No problems/not applicable
Age-related concerns (e.g. maternal PKU, diet changing with age, educational opportunities)
Not a priority (e.g. rushed appointments, lack of appointments, children seen as more important)
Lack of social support (e.g. alone/lonely, lack of chronological peers)
Communication
Number of Comments
16
11
4
2
2
Being around children
2
Not addressing patient’s concerns (e.g. focus on maternal PKU rather than current concerns)
2
Quotes (Gender, Age) “I didn't have any other major challenges as an adult at the children's hospital. In fact, it would remind me of old times.” Female, 22 “I rarely had the opportunity to hear about low-protein cooking workshops or other events/educational opportunities geared towards adult patients. Meeting other people my age with PKU was also a challenge.” Female, 23 “[It] seemed like once I past childhood, clinic visits were no longer beneficial, frequently rushed…” Male, 51 “There were not many opportunities to share experiences with other adult patients; for example, most PKU events were focused on children and parents. Feeling like the only adult in a paediatric clinic made me feel solely responsible or alone in my treatment.” Female, 22 Just needed more communication. For example, email [to the] dietitian with questions or concerns need[s] immediate response.” Female, 47 “Kids crying at the lab for bloodwork made [me] nervous.” Female, 33 “I didn’t feel as though I was briefed on the psychological toll of going off-diet. I felt as though the consequences surrounding PKU were presented to me only in relation to being a developing child or a
pregnant woman. I felt I had to learn about mental health consequences the hard way, and it is a lesson I am still learning.” Female, 26
Quality of care
1
“I felt that the care I received was good due to the environment but there was an inability to address my agerelated concerns. This made me concerned about the overall quality of care I was able to access.” Female, 50
(b) Summary of themes regarding benefits of being an adult PKU patient in a paediatric centre (question 4 on transition questionnaire, n = 30). Themes
Familiarity/continuous relationship with staff
No/not applicable
Caring/thoughtful/valued
Facility is fun/comforting
Number of Comments
13
10
3
2
Quotes (Gender, Age) “My most positive experience at SickKids was becoming familiar with my medical team and knowing that they are aware of my history, routine, successes, etc.” Female, 22 “No, I think those are all the benefits.” Female, 17 “[The] team trusted and looked for/valued my insight into my care, [the] team had a strong understanding of the challenges faced with PKU.” Female, 37 “Though I had concerns about the quality of care I felt comfortable in the children's hospital and looked forward to seeing everyone each year.” Female, 50
Availability of specialty foods store
2
“I loved seeing SickKids and having the speciality food store available for me.” Female, 50
Children enjoy the environment
1
“My children enjoyed the atmosphere and amenities.” Female, 28
(c) Summary of themes regarding other comments about experiences as an adult PKU patient in a paediatric clinic (question 5 on transition questionnaire, n = 35). Themes No/not applicable
Optimistic about the transition
Good relationship with paediatric staff (friendly/attentive staff)
Uncomfortable as an adult at the paediatric clinic
Comfortable/familiar with the paediatric clinic environment
Lack of age-related care
Curious about adult clinic
Paediatric care is more beneficial
Number of Comments 13
5
5
5
3
3
1
1
Quotes (Gender, Age) “No, I think it’s all covered.” Male, 42 “I am so glad to be in an adult clinic now where I know I will be better service[d].” Female, 50 “I have always had a positive experience at SickKids and enjoyed a great relationship with my entire team.” Female, 22 “You feel like a bit of a creep being in a children's facility without a child.” Female, 38 “I never had any issue with being cared for in a children’s hospital.” Female, 29 “I found that I didn't get a lot of help transitioning into my adult years especially after turning 18 and going off to school because the care was more centred around child or teenage years.” Female, 22 “Interested in more information on how appointment wait time will change if at all.” Male, 31 “Depending on the patient a children's hospital could actually be more beneficial.” Male, 20
(d) Summary of themes regarding the specific expectations that adult PKU patients
may have of the adult PKU clinic (question 6 on transition questionnaire, n = 28). Themes
Number of Comments
More adult specialised care (e.g. environment/referrals/services)
10
Better communication/contact
More social support
Quality of care
Education
Different perspective
Comfort/familiarity
5
4
Quotes (Gender, Age) “More age appropriate information and access to better care options outside the hospital. Being treated like an adult.” Female, 38 “Someone who I can email directly if I have questions about my diet or concerns with blood work. Someone who I can talk over email or phone with about food logs, and patterns in my levels, etc.” Female, 26 “I am hopeful that I would be able to take advantage of a social worker who understands adult issues.” Male, 52
4
“Just...give at least as good quality care as I am used to, if not better.” Female, 35
3
“Connection to resources where I can learn more about PKU in terms of health and fitness.” Female, 26
1
1
“Really looking forward to perhaps some different thinking/angles - maybe related to new treatments/studies, etc. for adults.” Male, 51 “I expect that over time all of the comfort and familiarity from SickKids will exist with the adult team.” Female, 37