How individuals with phenylketonuria experience their illness: an age‐related qualitative study

Vegni, Elena; Fiori, Laura M.; Riva, Enrica; Giovannini, Marcello; Moja, Egidio A.

doi:10.1111/j.1365-2214.2009.01000.x

Cited by 25 publications

(41 citation statements)

References 27 publications

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“…Consistent with previous literature, feelings of difference to peers due to eating behavior (Zwiesele et al 2015;Vegni et al 2009), increased difficulty with dietary compliance during adolescence (Weglage et al 1992; MacLeod and Ney 2010), parental support (Shulman et al 1991), and extended family support (MacDonald et al 2010) were identified as key childhood experiences for women with PKU, shaping the perception of PKU during childhood. Consistent with Kestil€ a et al 's (2005) and Mikkil€ a et al 's (2005) findings regarding the long-term impact of early experiences, connections were noted between these childhood themes and adulthood outcomes.…”

Section: Discussionsupporting

confidence: 67%

“…Conversely, children with separated or divorced parents (Olsson et al 2007;Alaei et al 2011), an unemployed parent (Alaei et al 2011), or low socioeconomic status (Weglage et al 1992) had reduced dietary control and elevated phenylalanine (Phe) levels (MacLeod and Ney 2010). Anguish and feelings of isolation have also been found to result from awareness of the differences in eating behavior between young people with PKU and their peers (Vegni et al 2009). Adolescence can be particularly challenging.…”

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confidence: 94%

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Relationships Between Childhood Experiences and Adulthood Outcomes in Women with PKU: A Qualitative Analysis

et al. 2016

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Section: Discussionsupporting

confidence: 67%

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confidence: 94%

Relationships Between Childhood Experiences and Adulthood Outcomes in Women with PKU: A Qualitative Analysis

et al. 2016

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“…), worries about finding an accepting and understanding life partner or perceiving the medical condition as a limit to other relationships (Vegni et al. ; Palareti et al. ), anxiety around planning children (Dures et al.…”

Section: Resultsmentioning

confidence: 99%

“…), and the constant need to manage and tailor the consequences of the rare condition with everyday life (Vegni et al. ).…”

Section: Resultsmentioning

confidence: 99%

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Living with a rare disorder: a systematic review of the qualitative literature

Lippe

Diesen

Feragen

2017

Molec Gen & Gen Med

215

223

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BackgroundIndividuals with rare diseases may face challenges that are different from those experienced in more common medical conditions. A wide range of different rare conditions has resulted in a myriad of studies investigating the specificities of the diagnosis in focus. The shared psychological experiences of individuals with a rare condition, however, have not been reviewed systematically.MethodsWe performed a systematic review, including qualitative studies on adults, published between 2000 and 2016. Papers including more than one rare genetic or nongenetic diagnosis were included. Studies based on single diagnoses were excluded except for four specific conditions: hemophilia (bleeding disorder), phenylketonuria (metabolic disorder), Fabry disease (lysosomal storage disorder), and epidermolysis bullosa (skin disorder).ResultsThe review identified 21 studies. Findings were synthesized and categorized according to three main themes: (1) Consequences of living with a rare disorder, (2) Social aspects of living with a rare disorder, and (3) Experiences with the health care system. Findings point to several unique challenges, such as the psychological, medical, and social consequences of a lack of knowledge about the condition in health care and social settings.ConclusionThe findings highlight the need for more research on the shared psychological and social impact of living with a rare diagnosis across conditions, in order to identify risk factors and inform clinical practice.

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Parental strategies to help children with phenylketonuria (PKU) cope with feeling different

Zwiesele

Bannick

Trepanier

2015

American J of Med Genetics Pt A

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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.

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How individuals with phenylketonuria experience their illness: an age‐related qualitative study

Abstract: This study constitutes a first attempt at understanding PKU from a non-medical-biological perspective.

Cited by 25 publications

References 27 publications

Relationships Between Childhood Experiences and Adulthood Outcomes in Women with PKU: A Qualitative Analysis

Relationships Between Childhood Experiences and Adulthood Outcomes in Women with PKU: A Qualitative Analysis

Living with a rare disorder: a systematic review of the qualitative literature

Parental strategies to help children with phenylketonuria (PKU) cope with feeling different

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