Phenylketonuria patients’ and their parents’ knowledge and attitudes to the daily diet - multi-centre study

Abstract

BackgroundThe aim of the study was to assess both patients’ and their parents’ knowledge of phenylketonuria (PKU) treatment and compliance with PKU diet.MethodsThe study included 173 PKU patients aged 10–19 and 110 parents of PKU children who were enrolled in the study on the basis of questionnaire data. The study also included 45 patients aged ≥20.ResultsOur study demonstrated that only 45% (n = 74) of PKU patients knew daily Phe intake recommendations, 27% of patients (n = 41) knew the Phe content in a minimum of three out of four researched food products. Patients’ knowledge concerning Phe intake (p = 0.0181) and the knowledge of selected food products (p = 0.041819) improved with age. We did not establish such a correlation in the group of PKU children’s parents.Approximately 31% of patients and 22% of parents reported helplessness, which increased with the child’s age, associated with the necessity to adhere to the diet; 30% of patients reported feeling ashamed of the fact that they could not eat all food products. Regardless of age, children were more likely than parents to report helplessness (p = 0.032005).Among patients, 41.40% declared that they would wish to select products unassisted but their parents did not permit them to do so. The question of whether parents teach children self-reliance in meal preparation was answered affirmatively by 98% of parents and only 81% of children (p = 0.0001).ConclusionOur data demonstrated that parents’ and children’s knowledge concerning treatment recommendations and food products does not have a direct impact on attitude to the PKU diet. Limiting children’s independence in meal selection, growing helplessness in the face of dietary adherence and shame resulting from the necessity to follow a different diet observed in PKU families are responsible for shaping and perpetuating a consistently negative attitude to the diet. The care of PKU paediatric patients requires consistent, long-term family and individual therapy which may counteract the effects of learned helplessness. In regard to the educational effort, a good parent-child relationship as well as the teaching of behaviours motivating patients to comply with the diet are of great importance.Electronic supplementary materialThe online version of this article (doi:10.1186/s12986-017-0207-1) contains supplementary material, which is available to authorized users.

Elements of genetic counseling for inborn errors of metabolism

“…There may be other times when guilt or shame is experienced by the patient or family related to an IEM, requiring ongoing reassessment [15]. For example, the child may have shame related to the requirement for a strict medical diet, particularly among peers [16]. Another common scenario can be that the unaffected siblings may experience a form of 'survivor guilt' since they did not inherit the same IEM.…”

“…Many of the psychosocial stressors for a patient with an IEM and parents of a child with an IEM often relate to the major alterations required for nutrition [15][16][17] which often includes careful calculations about foods and daily caloric intake closely scrutinized based on a medical diet prescription, which contrasts greatly from how most people without an IEM view food and meal planning.…”

“…This is only done when necessary for the health of the patient, but can be additionally traumatic to the parents and how they envisioned early parenthood, breastfeeding, nutrition and bonding would occur with their child. For many patients with an IEM, their diet is a carefully calculated prescription and foods need to be portioned out, weighed, measured and/or mixed in an exact manner [15][16][17][18][19]. Based on the IEM diagnosis, some patients may need to incorporate a medical formula and/or medical foods that have been altered specifically to their IEM diagnosis to allow for good metabolic control.…”

Ten‐year retrospective review (2003‐2013) of 56 inpatient admissions to stabilize elevated phenylalanine levels

“…4 Acceptance of a PKU diagnosis by patients and subsequent adherence to the low natural protein diet is well documented in the literature to be difficult. [4][5][6][7][8][9] A 2016 publication by Witalis et al 5 documented that 63% of children aged between 2 and 10 years and 49% of parents struggled to accept a diagnosis of PKU. A later publication by Witalis et al (2017) further investigating the knowledge and attitudes of parents and children reported that 22% of parents and 30% of children had a sense of helplessness with the daily complexities of trying to implement the low natural protein diet.…”

“…A later publication by Witalis et al (2017) further investigating the knowledge and attitudes of parents and children reported that 22% of parents and 30% of children had a sense of helplessness with the daily complexities of trying to implement the low natural protein diet. 6 Previous unpublished research within the NCIMD has explored potential reasons for elevated phe levels as out lined in Table 1.…”