Abnormal feeding behaviours in phenylketonuria

Abstract

The strict low phenylalanine diet used in the treatment of phenylketonuria (PKU) may adversely affect feeding behaviour and nutritional status in PKU children. The feeding behaviour of 15 unselected PKU children (12 girls, 3 boys) aged 1-5 years (mean age 3 years) was studied. Each child was matched with an unrelated age-and sex-matched non-PKU control child. All the PKU children were on a strict low phenylalanine diet. The mothers of all the children completed a validated feeding assessment questionnaire examining maternal perceptions of the incidence and type of feeding problems, feeding behaviour and parental management. A scored video recording of each child eating a midday meal was made, and mothers recorded a 3-day dietary assessment. Mothers of PKU children perceived their children to have more feeding problems than the mothers of the control children. They said that they were more likely to have a poor appetite (P<0.05), and have more gastrointestinal symptoms (P<0.05). The PKU group were more likely to be given their midday meal separately from the rest of the family (PKU group 67%, control group 20%; P<0.05), were less likely to start their meal without prompting (P<0.005) and received less parental feeding directed verbalization (P<0.05). Although there was no significant difference in energy intake between the two groups, the PKU group had a significantly lower weight z score than the control group: median (range) weight for age, PKU group z score −0.81 (−2.23 to 2.21); control group 0.65 (−0.81 to 1.83) (P<0.05), but no differences were noted for height z score. This study is the first to report on the extent of feeding difficulties in young PKU children. An awareness of the consequences of rigid diet therapy should prove helpful in improving management strategies.

Adherence Issues in Inherited Metabolic Disorders Treated by Low Natural Protein Diets

“…Treatment is not only about a rigorous dietary regimen, but an endless sequence of medications, procedures, home blood tests, emergency procedures in MSUD, OA and UCD, and numerous visits to hospital to see a wide range of professionals, and this is shared and experienced by the entire family [18]. Children may have physical or behavioural feeding difficulties or have limited appetites [2], and may require constant coercion to take their AA supplement three to four times daily, which is exhausting for caregivers. In addition, because these conditions are inherited, and some population groups have large families, it is not unusual to have more than 1 child with the same IEM in the family unit, thereby increasing the workload.…”

“…The poor palatability of many of these products renders dietary adherence arduous and therefore challenging, and may negatively impact on the clinical outcome and the family as a whole [2]. The anxiety and pressure experienced by patients and their families in adhering to their well-day diet as well as the treatment regimen given during acute and non-acute decompensations have so far received little attention.…”

Maternal core beliefs and children's feeding problems

“…It is frequently used in clinical assessment and has been used with success in the measurement of feeding problems in both clinical and nonclinical groups (e.g., Blissett et al, 2001;MacDonald, Harris, Rylance, & Booth, 1997;Whitehouse & Harris, 1998). The CFAQ correlates well with direct observation of feeding behaviors and parent-child interaction at mealtimes (Blissett, 1998), and an interview format has been reliably used in the diagnosis of feeding problems (Whelan & Cooper, 2000).…”

Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase‐deficient hyperphenylalaninaemia

“…Mental retardation and severe neurological symptoms are prevented by a strict low-protein diet supplemented with a synthetic Phe-free amino acid mixture (Burgard et al 1996(Burgard et al , 1999Scriver and Kaufman 2001). Recommended lifelong treatment requires high compliance of patients and their families and negatively affects their quality of life (MacDonald 2000;MacDonald et al 1997;Weglage et al 1996).…”