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Phenylketonuria (PKU) is a rare inherited metabolic disorder which can cause neurological damage if left untreated. PKU is identified through newborn screening in developed countries, and treatment begins immediately to prevent these severe consequences. When a child is diagnosed, parents must assume immediate responsibility for the management of PKU and prevention of neurological damage. Quantitative studies have identified significant psychosocial stressors for parents, but little is known about how the parents experience this process. This study aimed to explore the experiences of parents of children with PKU under the age of two. It is the first study to examine these experiences in this way. Seven parents were interviewed about their experiences, and interpretative phenomenological analysis was used to analyse the data. Three main themes were identified: control, striving for normality and acceptance of PKU as a continuum. Links between the themes and processes underpinning the results were explored with relation to existing literature and theories from a clinical psychology perspective. The role of acceptance of PKU was central to the parent’s experiences. Clinical implications and suggestions for further research are discussed. Electronic supplementary material The online version of this article (10.1007/s10897-018-0227-7) contains supplementary material, which is available to authorized users.

Retrospective.We aimed to determine if heavier patients with adolescent idiopathic scoliosis (AIS) had more preserved thoracic kyphosis (TK), and as a result, more preserved pulmonary function.Some believe that childhood weight is predictive of adult sagittal plane parameters, with heavier children having greater TK as adults. Generally, thoracic scoliosis is coupled with loss of TK, which is associated with worsening pulmonary function.A total of 142 patients with AIS and a structural main thoracic curve were analyzed. We excluded patients with structural proximal thoracic curves (Lenke 2 and 4). Standing preoperative radiographs, pulmonary function tests, and preoperative body mass indices (BMIs) were reviewed. The main thoracic Cobb angle, T2-T12 TK, percentage predicted forced vital capacity (FVC) and BMI were recorded. Spearman correlation was determined. Linear regression analysis used FVC as the primary outcome and BMI, TK, and Cobb angle as the independent variables. BMI categories were overweight/obese (BMI ≥25) and normal (BMI25). Wilcoxon rank-sum tests were performed to detect a difference in TK and BMI between the 2 groups. The Cobb angles between the two groups were analyzed by t tests.Demonstrated correlations included BMI and FVC (0.37, p ≤.01), FVC and TK (0.26, p.01), BMI and TK (0.23, p = .01), and FVC and Cobb angle (-0.23, p = .01). Linear regression revealed that Cobb angle (p ≤.01), TK (p.01), and BMI (p.01) remained statistically significant predictors of FVC. Wilcoxon rank-sum tests revealed a statistically significant difference between TK (p = .03) and FVC (p.01) in the overweight/obese group and the normal group, with the overweight/obese group having greater values for both TK and FVC. The Cobb angles between the overweight/obese and normal group were not significantly different (p = .72).Heavier AIS patients have greater values of TK and percentage predicted FVC.Level III.

Phenylketonuria (PKU), a rare metabolic disorder, causes cognitive impairment unless treated with a strict, protein-restricted diet, but few studies have examined the relationship between treatment compliance and parental wellbeing. In the present study, 46 primary caregivers of children with PKU completed measures of psychological distress, parenting stress (related to caring for a child with an illness), resilience, perceived social support and child dependency. Treatment adherence was assessed using the proportion of blood phenylalanine concentrations within target range in the preceding year. Results indicated that 59% of caregivers showed clinical levels of psychological distress, which was predicted by their parenting stress and resilience. Whilst the proportion of blood phenylalanine concentrations in range was not associated with parental distress, it was predicted by child age and caregiver’s perceived support from family. Despite experiencing high levels of distress, the results indicated that caregivers’ ability to adhere to treatment was not affected. Interventions to reduce parenting stress and boost caregiver resilience may have a positive effect on parental wellbeing. Additionally, interventions to promote treatment adherence benefit parents of older children, with a focus on promoting support from family members. Further research with larger sample sizes and longitudinal designs is needed to further establish causal mechanisms.