RESEARCH ARTICLE

Parental Strategies to Help Children with Phenylketonuria (PKU) Cope With Feeling Different Sheila Zwiesele,1 Allison Bannick,2* and Angela Trepanier1 1

Center for Molecular Medicine and Genetics, Wayne State University, Detroit, Michigan

2

Genetic and Metabolic Disorders, Children’s Hospital of Michigan, Detroit, Michigan

This study assessed feelings of differentness in children with phenylketonuria (PKU) and elicited parental coping strategies. A total of 22 parents of 7- to 12-year-old patients with PKU completed qualitative interviews, which assessed whether they think their children feel different from their peers and identified potential solution strategies. The results showed that most parents indicated their child feels different due to PKU, which is frequently triggered by situations surrounding food. PKU community involvement and educating others about PKU were perceived by parents as useful coping strategies. Talking to children about differences was frequently used but one of the least effective strategies. Extended family, clinicians, and teachers also attempted to help children cope with feeling different with varying degrees of success. We concluded that most parents perceive that their child with PKU feels different and have developed strategies to manage these feelings. However, a subset struggle with helping their child cope and may benefit from assistance from healthcare providers. Ó 2015 Wiley Periodicals, Inc.

Key words: adaptation; psychological; phenylketonuria; child; emotions; parents

INTRODUCTION Phenylketonuria (PKU) (OMIM ID#261600) is an autosomal recessive inborn error of metabolism, and more specifically an amino acidopathy. This metabolic disorder is caused by mutations in the phenylalanine hydroxylase (PAH) gene which cause decreased or absent phenylalanine hydroxylase enzyme activity. The lack of enzyme results in the elevation of the amino acid phenylalanine (phe) and the decrease of the amino acid tyrosine, both in blood and cerebrospinal fluid. Phenylalanine crosses the blood brain barrier and is directly damaging to myelin of neurons. Treatment with a phe-restricted diet and phe-free metabolic formula can be instituted to maintain blood phe levels within a recommended range and can help prevent the severe consequences of persistently elevated blood phe levels. Adhering to the restrictive diet is difficult, as intake of certain foods must be limited, and the metabolic formula can be intolerable. Treatment with the restrictive diet and formula is recommended for life. However, even with treatment and phe levels maintained in the recommended range,

Ó 2015 Wiley Periodicals, Inc.

How to Cite this Article: Zwiesele S, Bannick A, Trepanier A. 2015. Parental strategies to help children with phenylketonuria (PKU) cope with feeling different. Am J Med Genet Part A 167A:1787–1795.

individuals with PKU can still have subtle signs and symptoms. These signs and symptoms can be physical or psychological (including cognitive, emotional, and behavioral). Some signs and symptoms can be due to a deficiency of amino acids tyrosine and tryptophan, which causes a deficiency of neurotransmitters dopamine and serotonin. Psychosocial signs or symptoms in particular can often go unnoticed or unaddressed as they may be subtle and not overtly impair the level of functioning for an individual with PKU. For example, when compared to healthy controls, children with PKU exhibited significantly more internalizing problems, such as isolation, anxiety, depression, social, and attention problems, regardless of metabolic control [Weglage et al., 2000]. Based on parental reports, children with PKU scored significantly lower than healthy controls in the area of positive emotional functioning [Landolt et al., 2002]. Even after considering differences in IQ, children with PKU may have lower self-esteem than their healthy siblings based on disease status alone [Moen et al., 1977]. Gentile et al. [2010] suggest that children with PKU may be disadvantaged when it comes to relationships, emotional development, independence, or self-esteem. Feeling different is a challenge that is commonly faced by children with a variety of chronic illnesses, from celiac disease [Olsson et al., 2009] to cancer [Gannoni and Shute, 2010]. Children Conflict of interest: None.
Correspondence to: Allison Bannick, Genetic and Metabolic Disorders, Children’s Hospital of Michigan, 3901 Beaubien, Detroit, MI 48201. E-mail: [email protected] Article first published online in Wiley Online Library (wileyonlinelibrary.com): 29 April 2015 DOI 10.1002/ajmg.a.37088

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1788 with PKU may wonder why they are different, and feel uncomfortable when their treatment regimen makes their disease more apparent to others [Vegni et al., 2010]. Differences are typically noticed during meal or snack times, and some children choose to avoid such social activities [Di Ciommo et al., 2012]. Children with PKU who are between the ages of 8 and 10 are particularly affected by this challenge of feeling different. This may be explained in part by increased awareness of individuality and noticing differences among themselves compared to their peers at this stage of development [Vegni et al., 2010]. Based on clinical observations and reports in the literature, the issue of differentness has proved difficult for parents to address. While parents may notice negative feelings towards PKU in their child [Ievers-Landis et al., 2005], they may not be prepared to help their child cope with these feelings. As children with PKU “struggle with the daily realization that they are not the same as their peers [p. 191],” parents may be caught between comforting their child and enforcing the treatment regimen [Ievers-Landis et al., 2005]. Eating is a fundamental component of daily life. Parents may feel torn between strict dietary adherence and allowing their child to share in socialization often surrounding food without restrictions, and allowing new food experiences [Awiszus and Unger, 1990]. Notably, the difficulty of addressing differentness is not limited to PKU, as parents of children with cystic fibrosis also had difficulty addressing this concern when their children questioned perceived differences [Quittner et al., 1996]. Parents are often advised to talk to their children about their condition, but are generally not advised on how to do so [Plumridge et al., 2012]. Gallo et al. [2005] found that only 20% of parents received guidance from health care professionals on how to discuss information on their child’s genetic condition. Some parents of children with chronic illnesses have indicated a desire for psychosocial interventions that are aimed at the family unit, particularly during transition periods or developmental stages [Gannoni and Shute, 2010]. Since psychological and behavioral adjustment in children with phenylketonuria is based on more than metabolic control alone [Weglage et al., 2000], health care professionals should not only focus on medical treatment but psychosocial aspects of adjusting to the disease. However, there is limited evidence to guide health care professionals on how to help parents with the difficulty of addressing differentness due to chronic illness in their child. Information about specific strategies used by parents to promote positive adjustment in children with chronic illnesses is virtually absent from the literature. Quittner et al. [1996] adopted a behavior-analytic model that assessed problems faced by children with cystic fibrosis and their parents, as well as effective solution strategies. Four phases comprised this model: situational analysis, response enumeration, response evaluation, and instrument development. Ievers-Landis et al. [2005] conducted a similar study for a PKU population, albeit a small one consisting of 19 caregivers and 11 children over 6 years old. Problems faced by children and parents were elicited, as well as solution strategies and the perceived effectiveness of these strategies; however, this assessment of effectiveness was not tailored to specific problems, such as feeling different. As the effectiveness of strategies may vary depending on the problem, further research is warranted.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A The purpose of the current study is to describe the presence and extent of feeling different in children with PKU ages 7–12, to elicit the range of solution strategies employed by parents and others to help the child cope with the specific problem of feeling different from their peers, and to determine the corresponding effectiveness of these strategies per parental report. Those strategies identified to be most effective could potentially be incorporated into resources that health care professionals can give to parents whose children with PKU are struggling with feeling different.

MATERIALS AND METHODS Mothers and fathers of children with PKU between the ages of 7 and 12 years who are followed at the Children’s Hospital of Michigan Metabolic Clinic (CHMMC) in Detroit, Michigan were eligible to participate in this study. CHMMC is the central referral site in Michigan for abnormal newborn screens, and is responsible for confirming a disorder and providing lifelong medical management recommendations. A list of individuals with PKU maintained at the CHMMC was queried to determine eligibility. The study was initially introduced to the parents of the patients in person or by telephone call. Parents were informed that they would be asked to take part in a research study involving a telephone interview. A research packet was then mailed, which included an introduction letter, information sheet, and decline form. Eligible mothers and fathers were each sent an individual research packet, regardless of whether they shared a residence. Eligible participants had the option to opt out of the study by telephoning the clinic, emailing the research team, or mailing back the decline form. Those participants who did not opt out within 2 weeks of the mailing were contacted by phone to initiate the interview process. Eligible mothers and fathers were asked to participate separately in the interview, and separate contact information was used when indicated. No less than three attempts were made to contact eligible participants by telephone to complete the interview. Informed consent was obtained from all participants. The study was approved by the Wayne State University Human Investigations Committee (IRB# 106912B3E). Because there is very limited research in how parents help their children with feeling different related to PKU, a qualitative study design was used to collect descriptive information. Based upon previous research [Quittner et al., 1996; Ievers-Landis et al., 2005], a series of draft interview questions and an interview manual were developed. The questions and manual were reviewed by staff with expertise in qualitative study design at the Wayne State University Center for Urban Studies and their feedback was incorporated. The modified interview questions were then piloted on three parents of children with PKU who were over age 12 years and modified based on their input. Piloting the interview questions allowed the authors to assess the completeness and clarity of the interview manual, so that interviews could be conducted in an objective and standardized fashion. The interview was designed to take no longer than 45 min to complete, and all interviews were conducted via telephone. The following information was collected through the interview: (i) whether the parent perceived their child with PKU as feeling different and if so, the extent of these feelings; (ii) strategies

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attempted by the parent to manage these feelings; (iii) perceived effectiveness of said strategies; (iv) resources used; (v) parent’s support system; and (vi) demographic information. Participants were also given the option of sharing advice they have for other parents of children with PKU. Once the study was introduced and the parent consented to take part, the interviewer inquired as to whether the participant perceived that his/her child feels different because of his/her PKU, or has in the past. If the parent answered affirmatively, the interviewer proceeded to inquire what has been said or done by the parent or others to help the child cope with this issue, and how effective the parent perceived these strategies to be. Parents were asked to rate each strategy on a scale from 1 to 5, where 1 is not at all effective and 5 is extremely effective in helping the child cope with feeling different. A needs assessment regarding resources pertaining to this issue was also performed which covered utilization and helpfulness of available resources, as well as desire and preferred format for additional resources. Demographic information was collected (Table I). In addition, information about the severity of the child’s PKU (i.e., mild or classic) was abstracted from medical records. If the participant reported that their child did not feel different due to PKU, then they were not asked about attempted strategies or effectiveness, but they were asked about resources, support, and demographic information. Interview responses were recorded and transcribed for data analysis purposes. After completion of interviews, a coding manual was developed. An initial subset of five interviews was used to identify themes for each of the open-ended interview questions. Each researcher individually identified potential themes from these five interviews, and codes were subsequently determined by comparing all three researchers’ compilations. This master list was used in coding the full set of interviews. Thirty possible

themes falling into six broader categories were identified and used for coding attempted solution strategies. Once the themes were identified, transcripts of the open-ended interview responses were coded by two independent researchers and audited by a third until consensus was reached. One researcher analyzed the closed-ended interview responses.

RESULTS Thirty-six parents of children with PKU were eligible to participate in this research study, representing 35 children with PKU. One parent opted out and interviews could not be coordinated for 13 other eligible parents (three fathers and ten mothers with five daughters and eight sons with PKU) due to inability to establish contact by telephone. Twenty-two parents (61.1% of eligible parents) completed the phone interview. The study population was comprised of seven couples and eight singleton parents. These parents had a total of sixteen daughters and six sons with PKU. The average age of these children was 9.73 (S.D. 1.7) years. Nine of the children had mild PKU and 13 had classic PKU (Table I). The average length of interview was 24.9 minutes (S.D. 9.8) with a range of 5.6 to 42.5. Nineteen of 22 parents reported that their child felt different because of PKU. Of the three parents reporting their child did not feel different, two were fathers. Only one of these three parents reported that she/he was primarily responsible for the care of their child’s PKU. Table II describes characteristics related to feelings of differentness. Of the parents who believed that their child felt different due to PKU at some point in time, five had affected sons and 14 had affected daughters. Fifteen of the 19 parents reported that their child was currently experiencing feeling different. The

TABLE I. Sample Characteristics Demographic profile-parents (N ¼ 22) Gender Education

Marital status More than one child with PKU? Adherence to PKU management recommendations?a Believe school is supportive?

a

Demographic profile-children (N ¼ 22)

Variable Female High school Some college College degree

n (%) 13 (59.1) 5 (22.3) 4 (18.2) 13 (59.1)

Single Married Divorced Yes Good Fair Poor Yes

1 (4.5) 20 (90.1) 1 (4.5) 8 (36.4) 15 (68.2) 7 (31.8) 0 20 (90.1)

Gender Grade

PKU Type Only child? Participates in extra-curricular activities? Attended PKU events? Tolerance of PKU diet?

9/22 (40.1%) of parents reported good adherence to diet but laxity in keeping diet records or sending in dried blood spots as requested by clinic.

Variable Female 2nd 3rd 4th 5th 6th 7th Mild Classic

n (%) 16 (72.7) 4(18.2) 4(18.2) 2 (9.1) 6 (27.3) 1 (4.5) 5 (22.7) 9 (40.9) 13 (59.1)

Yes Yes

3 (13.6) 19 (86.4)

Yes No resistance Some resistance

17 (77.3) 9 (40.9) 13 (59.1)

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TABLE II. Feeling Different Because of PKU Question Has your child ever experienced feeling different related to PKU? (N ¼ 22)

Variable Yes

Response total sample n (%) 19 (86.3)

Does your child currently feel different? (N ¼ 22)

Yes

15 (68.2)

Does feeling different impact your child’s self-esteem? (N ¼ 19)

Yes

8 (42.1)

Average ranking overall (SD) 2.7 (1.3) 2.8 (0.9)

Question (N¼19) How much does feeling different distress your child?a How often does your child struggle with feeling different?b

Average ranking by age (SD) Ages 7–9: 3.0 (1.5) Ages 10–12: 2.5 (1.2)

Response breakdown variables Ages 7–9 Ages 10–12 Male child Female child Mild PKU Classic PKU Ages 7–9 Ages 10–12 Male child Female child Mild PKU Classic PKU Ages 7–9 Ages 10–12 Male child Female child Mild PKU Classic PKU Average Ranking by Gender (SD) Male: 4.2 (0.8) Female: 2.2 (1.1)

Variable n/N (%) 8/9 (88.9) 11/13 (84.6) 5/6 (83.3) 14/16 (87.5) 8/9 (88.8) 11/13 (84.5) 8/9 (88.9) 7/13 (53.8) 4/6 (66.7) 11/16 (68.8) 5/9 (55.6) 10/13 (76.9) 5/8 (62.5) 3/11 (27.3) 4/5 (80) 4/14(28.6) 3/8 (37.5) 5/11 (45.5) Average ranking by PKU type (SD) Mild: 2.3 (1.4) Classic: 3.0 (1.3)

Ages 7–9: 2.4 (1.1) Ages 10–12: 3.2 (2.4)

Male: 2.6 (1.1) Female: 2.9 (0.8)

Mild: 3.0 (0.8) Classic: 2.7 (1.0)

a

Reported on a scale of 1 to 5 where 1 is not at all and 5 is very distraught. Reported on a scale of 1 ¼ daily, 2 ¼ weekly, 3 ¼ monthly, 4 ¼ yearly.

b

average age at which this feeling of differentness was initially noticed was 6.0 (S.D. 1.5) years. On a scale of 1 to 5, where 1 is not at all and 5 is very emotionally distraught, the average distress of the child related to feeling different was 2.7 (S.D. 1.3). The average frequency of feeling different due to PKU was between weekly and monthly for the entire sample but dropped to between monthly and yearly for children between the ages of 10 and 12. Parents who indicated their sons felt different due to PKU were more likely to believe that it affected their son’s selfesteem than parents of daughters. “I acknowledge yes it’s hard, and it’s not fair, but he has PKU, and it’s something he has to learn to deal with the different situations.” (Mother of an 8-year-old son with classic PKU) When the parent was asked how they realized that their child felt different, the most common response was by the child revealing this through verbalizations to the parent (50%, 15/30 responses). Parents also came to this realization through observations of the child’s behavior or affect (27%, 8/30), the child questioning why (13%, 4/30), asking the child (7%, 2/30), and common sense (3%, 1/30).

“Now that she’s older, she just says it. She wishes she could have cake; she wishes she could have the stuff that everybody else eats.” (Mother of a 9-year-old daughter with classic PKU) When the parent was asked what triggered the child to feel different, the most common responses were school experiences such as classroom parties, lunch, or snack time (32%, 14/44 responses) or social gatherings not involving family or school such as sleepovers and playdates (30%, 13/44). Parents also reported the following triggers: food in general, setting not specified (20%, 9/44), being treated differently through verbalizations or actions of peers (9%, 4/44), family gettogethers (7%, 3/44), and irritability related to dietary control (2%, 1/44). “It’s just mostly snacks, and lunchtime at school.” (Mother of 8-year-old daughter with classic PKU) On average, parents identified 11.4 strategies per interview (range of 4 to 16 strategies per parent) that they have attempted, or that others have attempted, to help their child cope with feeling different due to PKU. In total, 156 strategies attempted by parents

ZWIESELE ET AL. and 60 strategies attempted by others were captured among interviews. The strategies fell into six overarching categories: diet-related approaches, practical approaches, providing direct parental support, acknowledging differences, seeking external support, and education. A total of 30 unique strategies, attempted by parents and/or others, were identified across the categories with a range of 2 to 9 strategies per category. Table III reviews the six major categories of strategies, the strategies identified within each, and the number of times each strategy was identified by parents. Table III also includes the average perceived effectiveness of each parental strategy based on a 5-point scale where 1 is not at all effective and 5 is extremely effective. Overall, the average effectiveness for all strategies identified by mothers and fathers was high at 4.3 (S.D. 0.9). The effectiveness of the two strategies attempted by others, but not parents, is not included in this table. The strategies most commonly attempted by parents fell into the diet-related approaches category. These strategies accounted for 23.1% (36/156) of the attempted parental strategies. Strategies falling under the practical approaches category and direct parental support category were also commonly attempted (19.9%, 31/156 for each). Parents less commonly reported using strategies falling into the acknowledging differences (12.8%, 20/156), seeking external support (12.2%, 19/156), or education (12.2%, 19/156) categories. Although used less frequently than other strategies, parents ranked strategies in the seeking external support and education categories as the most effective (4.8 and 4.6, respectively on a 5-point scale). “We’ve been to the conferences...and we try to make as much of the clinic gatherings as we can.” (Mother of an 8-year-old male with classic PKU) The single most frequently identified strategy attempted by parents was educating others about PKU accounting for 10.9% (17/156) of the strategies attempted. Parents also attempted the following individual strategies relatively frequently: talking about differences, making dietary accommodations for the child, being direct or matter-of-fact, framing the condition as not limiting, becoming involved in the PKU community, being open and honest with the child about PKU, encouraging the child to take responsibility by getting involved with management or dietary decisions, and offering reassurance. “We make sure she takes an active part in maintaining her diet.” (Mother of a 10-year-old daughter with classic PKU) “You have to live with it, and it’s not really an option not to live with it.” (Father of 8-year-old daughter with classic PKU) Slight variations were found in the frequency of attempted strategies when grouped according to the parent’s gender. The three most frequently attempted strategies by mothers were educating others about PKU, making diet-related accommodations for the child, and talking about differences. The most frequently attempted strategies by fathers were being direct or matter-offact and talking about differences.

1791 “We say that everybody has their issues that they have to deal with and this happens to be yours.” (Father of a 7-yearold daughter with mild PKU) Of the strategies reported by two or more participants, the strategy perceived as most effective was becoming involved in the PKU community which was ranked as extremely effective by all nine parents that attempted this strategy. The next most effective strategies attempted by parents were giving examples of people who have successfully overcome obstacles (including individuals with PKU), being open and honest with the child about PKU, educating others about PKU, and framing the condition as not limiting. “We made sure right from the start that we’d never tell her that she couldn’t do something because of her PKU...that it was never going to be a limiting issue.” (Father of a 12-yearold daughter with mild PKU) The least effective strategies of those attempted by two or more parents were eliciting the child’s preferences on how the parent can help, encouraging talking about feelings, minimizing the impact of PKU, pointing out positive qualities about the child, and talking about differences. Of note, none of the strategies attempted by at least two parents had an average effectiveness rating lower than 3.3. “I remind him all the time of all the awesome parts of his life—that he has this ability to make a room smile, and people love to be around him, and he’s super funny, and he’s super smart.” (Father of 8-year-old son with classic PKU) Participants were asked whether others helped their child cope with being different and if so, who helped and what strategies they used. Parents identified 60 strategies used by others. Beyond parents, the group that most frequently tried to help the child cope with feeling different was extended family members (38%, 23/60 strategies) followed by the metabolic clinic (18%, 11/60), teachers (18%, 11/60), and the child’s friends (8%, 5/60). Others who less frequently attempted to help the child cope included guidance counselors, others in the school (principal, cafeteria staff), friends of the parents, dietician at camp, and sibling with PKU. The single most frequently attempted strategy by extended family members was making dietary accommodations for the child (9/23 strategies attempted, 39%); parents perceived this strategy to have an average effectiveness of 4.9 (S.D. 0.3) when attempted by extended family members. The most frequently attempted strategy by the metabolic clinic was being direct (4/11 strategies attempted, 36%) and was rated an average of 4.8 (S.D. 0.5) for effectiveness. The most frequently attempted strategy by teachers was making dietary accommodations for the child (5/11 strategies attempted, 45%) and was rated an average of 4.2 (S.D. 0.8) for effectiveness. Teachers also attempted to help the child cope with feeling different by being open to learning more about PKU (3/11 strategies attempted, 27%), and parents perceived the average effectiveness of this strategy to be a 3.3 (0.6).

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TABLE III. Frequency and Average Effectiveness of Strategies Attempted by Parents Strategies attempted by parents Diet-related accommodations - child (i.e., make similar low-protein foods; provide appropriate snacks). Encourage child to take responsibility for diet (i.e., let child make choices; track daily phenylalanine; experiment with recipes; make own formula). Diet-related accommodations - parent (i.e., became vegetarian; do not eat foods unless there is a low-protein alternative; do not emphasize taste). Adhere consistently to diet (i.e., don’t let child stray from diet). Prepare child ahead of time (i.e., discuss food options before an event; choices may be limited). Medication sapropterin dihydrochloride allows child to modify diet. Emphasize importance of formula/diet by multiple people. Diet-related approaches. Be direct (i.e., matter-of-factly talk about PKU; it is what it is; no other options; take emotion out of it; focus on medical side). Frame condition as not limiting (i.e., PKU is not a crutch or disability; does not limit child; do not over sympathize; do not let child self-pity). Be open with child (i.e., about the diagnosis; do not hide anything). Leave child alone (i.e., let child cope on own; give time to get over it; child can either pout alone or join the party). Practical approaches. Offer reassurance (i.e., not child’s fault; love child regardless; everything will be okay). Empathize with child (i.e., yeah, I know it is hard). Re-framing to focus on positives about PKU (i.e., child is healthier because of diet; child can grow up to find a cure). Positive strokes about child (i.e., it’s good to be unique; point out other good qualities about child; child is special). Parent asks child how parent(s) can help. Minimize impact of PKU (i.e., it’s not that bad; it could be worse). Encourage talking about feelings. Give child extra attention (i.e., special outings, extra help in school). Humor (i.e., tickles child). Direct parental support. Talk about differences (i.e., everybody is different; everybody has something; compare to diabetes, allergies). Books about differences (i.e., read book to child; teacher reads to class). Acknowledging differences. Involvement with PKU community (i.e., patient events; spend time with PKU families outside of clinic). That is how God made child (i.e., God would not give child something they could not handle). PKU success stories/real-life heroes (i.e., videos). Child talks to sibling/cousin with PKU. Creating a supportive environment (i.e., friends, spirituality, hospital). Seeking external support. Parent educates others about PKU/spokesperson (i.e., talk to teachers each school year; make low-protein foods for others; be open with diagnosis to others). Empower child to educate others (i.e., child talks about PKU to class). Take initiative to learn more about or experience PKU lifestyle (i.e., open to learning). Education. Two of the strategies in this table were not attempted by parents but by others, according to parents.

Times identified 14

Average effectiveness (Standard deviation) 4.2 (0.8)

8

4.3(0.7)

5

4.2 (0.4)

4 4

4.0 (1.0) 4.3 (1.0)

1 0 36 12

5.0 N/A 4.2 (0.7) 4.3 (1.0)

10

4.5 (1.0)

8 1

4.6 (0.8) 5.0

31 7

4.4 (0.9) 4.1 (0.7)

5 5

4.4 (0.5) 4.4 (0.5)

5

3.5 (0.6)

3 2 2 1 1 31 15

3.3 (1.5) 3.5 (2.1) 3.5 (0.7) 4.0 2.0 3.9 (0.9) 3.9 (0.8)

5 20 9

4.0 (1.4) 3.9 (1.0) 5.0 (0)

5

4.4 (0.5)

3 1 1 19 17

4.7(0.6) 5.0 5.0 4.8 (0.4) 4.6 (0.8)

2 0

4.5 (0.7) N/A

19

4.6 (0.8)

ZWIESELE ET AL. “We actually met with the principal and her teacher...a week or two before school started. We went over all that stuff with them so they knew what was coming...” (Father of a 10-year-old daughter with classic PKU) In terms of parental experiences with addressing this issue of differentness in their child, 18 of 19 parents (94.7%) who believed their child felt different also believed that they were successful in helping their child cope with this feeling. When the parent was asked how she/he knew they were successful in helping their child cope, the most common response was that the child is accepting of PKU and/or does not protest the special diet (21%, 6/29 responses). Other common responses included: the child is resilient and gets over the issue quickly (17%, 5/29), the child reacts positively to the parent’s strategy and/or listens (17%, 5/29), the child has a good attitude and/or does not feel sorry for his/herself (17%, 5/29), and the child has a good mood and/or is not sad (14%, 4/29). Less frequent responses included: PKU does not keep the child from doing things, the child shows interest in PKU or diet, and the child self-advocates. “She’s just like overcame things...like she knows in certain situations that she can’t have something and sometimes it doesn’t bother has as much as other times.” (Mother of 9year-old daughter with classic PKU) Parents rated the difficulty they experienced when addressing the issue of differentness with their child. On a scale of 1 to 5, where 1 is very easy with minimal effort and 5 is very difficult and having no idea of what to say or do, parents reported a mean difficulty of 2.1 (S.D 1.1). Parents who reported that their child’s distress level was lower (ranked as a 1 or 2 out of 5) had a mean difficulty in addressing the issue of differentness of 1.7 (S.D. 0.8). Parents who reported that their child’s distress level was higher (ranked as a 3, 4, or 5 out of 5) had a mean difficulty in addressing the issue of differentness of 2.5 (S.D.1.2). Seven parents reported that part of the difficulty was struggling between wanting to comfort their child and enforcing the treatment regimen. Six of the seven parents had children with classic PKU and one had a child with mild PKU. “It’s hard because I don’t want him to feel left out. I don’t want him to feel different, but I know that it’s something he’s going to have to deal with every day of his life.” (Mother of 8year-old son with classic PKU) Parents were asked about their support system and utilization of resources. The most frequently reported sources of support for parents were: extended family members, spouse, and the metabolic clinic. Sixteen of 19 parents whose child felt different due to PKU reported using resources to help their child cope with these feelings, and many parents reported using multiple resources. The most commonly used resource that was helpful to parents for addressing this issue of differentness was printed material. The next most commonly used resources by mothers were the PKU community, PKU list-serve, and metabolic clinic. The next most commonly used resources by fathers were the metabolic clinic, PKU community, and the internet including YouTube and PKU websites. One

1793 parent each reported that the child’s school, printed material, metabolic clinic, and PKU community were not helpful resources. Twenty out of 22 parents indicated they would be interested in using a resource offered by the CHMMC for addressing this issue of feeling different due to PKU. Potential reasons why parents would not be interested in this resource included long distance to the clinic and feeling able to handle the issue on their own. Parents were most interested in a group format, either for parents, children, or both, or printed material. More mothers than fathers indicated interest in printed material. Parents also expressed interest in the following formats on one or two occasions: role-play, up-to-date information on research and PKU, presentation, video, website, mentoring program, and conference workshops. “So for us, I think it’s just the information they give us–as much information they can give us about her condition and research about it, the better.” (Father of a 7-year-old daughter with mild PKU)

DISCUSSION The current study supports findings from previous research that identified the problem of feeling different as one that is commonly faced by children with PKU [Vegni et al., 2010; Di Ciommo et al., 2012] and other childhood chronic illnesses [Quittner et al., 1996; Olsson et al., 2009; Gannoni and Shute, 2010]. The prevalence, frequency, and average distress to the child of problems related to feeling different reported in the current study supports previous research [Ievers-Landis et al., 2005]. IeversLandis et al. [2005] found that 14/19 caregivers and 9/11 children reported problems related to the child’s negative feelings towards PKU, which would seemingly include the issue of feeling different. The current study further describes feeling different in terms of age of onset, degree of distress, and frequency of feeling different among children with PKU. Parents in the current study reported that feeling different occurred more frequently (and may have a greater effect on self-esteem) in male children, children with classic PKU, and younger children than in female children, those with mild PKU, and older children. However, these trends need to be further characterized with a quantitative study before making conclusions. Previous research has suggested that children with PKU feel different when their diet or treatment makes their condition more visible to others [Vegni et al., 2010]. Not surprisingly, the majority of triggers identified in this study were related to food. When classified by setting, school experiences such as classroom parties or lunchtime was the most commonly reported triggering event. The current study is consistent with previous qualitative interviews of children, adolescents, and young adults with PKU, which reported that: “school, school trips, and parties are the main occasions where difference is noticeable [p. 4]” [Di Ciommo et al., 2012]. Some parents in the current study reported that their children were treated differently or bullied most often also related to the child’s special diet. Children may show that they are feeling different in a variety of ways. Some children or adolescents with PKU may avoid social

1794 activities [Di Ciommo et al., 2012], which may be a sign that they are feeling different. Most children in this study verbalized this feeling to the parent or exhibited changes in behavior or affect, such as looks of anticipation, which then alerted the parent to this issue. A greater proportion of daughters verbalized their feelings of differentness and a greater proportion of sons exhibited changes in behavior or affect. This suggests that male children may be less likely to verbalize their feelings of differentness than females. Similarly, the children that questioned why they had PKU or had to follow a special diet were all female. In general, girls have been shown to be more talkative and more likely to use affiliative speech (speech aimed at making social connections) than boys [Leaper and Smith, 2004]. In addition, in pediatric chronic pain populations, females appear more likely than males to cope through seeking social support [Keogh and Eccleston, 2006; Lynch et al., 2007]. Thus, the differences observed in this study may be a function of typical gender differences. However, again, these results should be cautiously interpreted due to the qualitative nature of this study. Experience at CHMMC has suggested that, while parents of children with PKU observe feelings of differentness in their child, they often do not know how to address this issue and therefore defer to the clinical team (personal communication). However, the vast majority of parents in this study who reported that their child felt different also reported that they believed they were successful in helping their child cope with these feelings with minimal difficulty. Parents in the current study experienced an average difficulty of 2.13/5 when addressing their child’s feelings of differentness, whereas caregivers from a previous study experienced an average difficulty of 3.13/5 when addressing problems related to the child’s negative feelings towards PKU [Ievers-Landis et al., 2005]. However, “negative feelings towards PKU” could capture problems beyond feeling different. The current study suggests that parents may experience more difficulty in helping their child cope with feeling different when their child is more distressed or upset by these feelings. Most parents did not struggle between wanting to comfort their child and enforcing the treatment regimen, but those that did were mostly parents of children with classic PKU as opposed to mild PKU. The current study confirms prior research in that some parents do experience this conflict [Ievers-Landis et al., 2005; Awiszus and Unger, 1990]; however, this may be less commonly experienced than initially suggested. Parents attempted a wide array of strategies to help their son or daughter cope with feeling different due to PKU, and all parents attempted more than one strategy. Parents rated the effectiveness of their strategies generously, with the overall average effectiveness being 4.2 out of 5. No parental strategies were perceived to be not at all effective. Therefore, even strategies that were ranked to be the least effective were still perceived by the parent as being as least somewhat effective in helping the child cope with feeling different. Overall, strategies related to diet were the most commonly reported as a group, and were perceived as moderately effective. While seeking external support was one of the most effective categories, it was also one of the least frequently reported. This gap highlights a potential opportunity for healthcare professionals to better enable parents to effectively help their child cope with feeling different. The single most effective strategy was becoming involved in the PKU community, and included attending cooking demonstrations,

AMERICAN JOURNAL OF MEDICAL GENETICS PART A the annual PKU picnic, or planning outings with other families with children who also have PKU. Every parent who reported attempting this strategy rated it as being extremely effective in helping the child cope with feeling different. Since the child is not different when around other children who also have PKU, it makes sense that this would be an effective strategy. Other strategies that were highly effective but infrequently utilized by parents included empowering the child to educate others about PKU and giving examples of people who have successfully overcome obstacles, including individuals with PKU. The most commonly reported individual strategy, educating others about PKU, was also one of the most effective strategies. Parents attempted to educate others in a variety of ways, whether by talking to teachers at the beginning of the school year, sending a letter to other parents in their child’s classroom, volunteering to talk to the classroom on PKU Awareness Day, or inviting friends into their home to share a low-protein meal. The second most commonly reported individual strategy, talking about differences, was one of the least effective when compared to other strategies. This strategy included telling the child that everybody has something that makes them unique and comparing PKU to allergies or diabetes. The least effective strategy, eliciting the child’s preferences on how to help, was not one that was commonly identified. Younger children may have trouble expressing their preferences, and one parent who identified this strategy commented to this regard. Interview responses suggest that fathers may be more likely to attempt to help their child cope by being direct or matter-of-fact and mothers may be more inclined to make dietary accommodations for the child, such as providing appropriate low-protein alternatives. However, this can only be reported as a trend due to the study’s limited sample size. Some of the strategies identified in the current study overlapped with previous reports in the literature. In a study that identified strategies for adhering to the PKU diet, parents reported encouraging the child to take responsibility for management, sharing in the diet with the child, and being direct [Awiszus and Unger, 1990]. Ievers-Landis et al. [2005] found that 10/19 caregivers attempted educating the child or others about PKU with an average effectiveness of 2.46/5 and 14/19 caregivers attempted strategies related to regimen implementation, such as providing low-protein alternatives, with an average effectiveness of 3.44/5. However, these strategies were attempted for diet-related problems in general, and not specific to the child’s negative feelings towards PKU. Parents in the current study rated these particular strategies higher in effectiveness, which may be due to the study’s narrower focus or variations in sample composition. Extended family members and the metabolic clinic were common sources of support for parents; this is mirrored by the parents’ frequent reports of these groups attempting to help their child cope with feeling different. Parents perceived that making dietary accommodations was more effective when attempted by extended family members rather than by the parent themselves. While the majority of parents believed they were able to successfully help their child cope with feeling different, most still expressed interest in a resource from the CHMMC. The content of these resources should ideally promote strategies that were perceived by parents as being most effective. Based on the current

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study, this would include helping parents and children educate others about PKU, increasing involvement in the PKU community, and sharing PKU success stories. There are a variety of resources that could be implemented by the clinic. Several parents indicated a preference for a group discussion and printed material. Therefore, the metabolic clinic should focus efforts on these modalities when developing resources. For example, printed educational materials could include fact sheets for parents on how to talk to teachers or extended family members about the PKU diet or classroom handouts that describe PKU in kid-friendly ways. The metabolic clinic could host more PKU-related events in various locations across the state to increase community involvement. Virtual discussions could also be considered, as the long distance to clinic activities held at the clinic was a barrier identified by our parents. Older children with PKU could serve as positive examples for younger children through a mentorship program developed by the clinic, in order to exemplify PKU success stories. These interventions would likely benefit the majority of parents of children with PKU, including those who believe they are already able to successfully help their child cope with differentness. The current study is unique in that perspectives from both mothers and fathers were evaluated for the specific problem of feeling different due to PKU. The response rate (61%) and number of participants were quite good considering the relatively low prevalence of PKU in the general population. However, the small sample size and qualitative nature of this study limits its interpretation. The trends identified here will need to be confirmed with larger, quantitative studies before firm conclusions can be drawn. One must also consider the possibility of selection bias in this study when interpreting results. For example, parents may have been more likely to participate if they believed they were able to effectively help their child cope. Parents identified many strategies and each was coded into one distinct category; however, strategies may not always be distinct. Additionally, each child truly is unique and strategies may not be equally effective for all children or parents. It is certainly important to learn about barriers to compliance in PKU, but many researchers are also trying to understand and characterize the potential psychological ramifications of living with this condition [Weglage et al., 2000; Gentile et al., 2010; Vegni et al., 2010; Di Ciommo et al., 2012]. Parents can be excellent teachers when given the opportunity. By exploring the different elements of problems faced by children with PKU and their parents, researchers and health care providers may be better able to promote effective solution strategies. Since it has previously been suggested that parental problem-solving ability correlates to dietary compliance [Fehrenback and Peterson 1989], implementing effective strategies may not only improve psychological adaptation, but also dietary adherence.

thank the Center for Urban Studies at Wayne State University for helping to develop the interview manual.

ACKNOWLEDGMENTS

Weglage J, Grenzebach M, Peitsch M, Feldmann R, Linnenbank R, Denecke J, Koch H. 2000. Behavioural and emotional problems in early-treated adolescents with phenylketonuria in comparison with diabetic patients and health controls. J Inherit Metab Dis 23:487–469.

The authors would like to thank the parents who participated in our study for their time and valuable insight. We would also like to

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