000			nam a22 4500
001			16343
100			_a20240126 2023 |||u0pory50
101			_aeng
102			_aPT
200			_aImpact on diet quality and dietary burden of sapropterin dihydrochloride use in children with phenylketonuria _ea 6 months follow-up report _fMaria Gama _gorient. Anita MacDonald, Júlio César Rocha
210			_aLisboa _cNOVA Medical School, Universidade NOVA de Lisboa _d2023
215			_a103 p.
328			_bDissertação de Mestrado _cNutrição Humana e Metabolismo _d2023 _eFaculdade de Ciências Médicas, Universidade NOVA de Lisboa
330			_aAbstract Introduction: Adjuvant treatments in Phenylketonuria (PKU), such as sapropterin dihydrochloride, aim to increase natural protein tolerance and/or ameliorate blood phenylalanine (Phe) levels in a subset of patients. Changes in feeding patterns and behaviors in sapropterin-responsive populations have not been widely reported in the literature. Our aim was to assess changes in food quality, mental health and burden of care in a PKU sapropterin-responsive cohort. Methods: In an observational, longitudinal study, questionnaires on food frequency, neophobia, anxiety and depression, impact on family and burden of care were applied to patients at baseline, 3- months and 6-months after sapropterin-responsiveness testing. Data on growth, nutritional intake and metabolic control were collected at all time-points. Results: 17 children (10.8 ± 4.2 years) reached the 6-months follow-up assessment. Patients body mass index (BMI) z-scores remained similar after drug initiation, while increasing natural protein (p = <0.001) and reducing protein substitute intake (p = 0.002). Blood Phe control was kept stable throughout the study (p = 0.731). Increases in regular cow’s milk (p = 0.001), meat/fish and eggs (p = 0.005), bread (p = 0.01) and pasta (p = 0.011) were seen, while decreasing intake of low-protein milk (p = 0.007), low-protein bread (p = 0.028) and low-protein pasta (p = <0.001). Anxiety (p = 0.016) and depression (p = 0.022) were significantly decreased in caregivers. As for impact on family, differences were observed for familial-social (p = 0.002) and personal strain (p = 0.001) subsets. On burden of care, the majority of caregivers considered dietary management to be easier but still restrictive. Before drug treatment more time was spent on PKU related tasks, but this decreased with time. Around half of caregivers spent more money on food shopping and the majority went out for meals more regularly. Fewer caregivers had to deny food choices on a daily basis to their children after 6-months on the drug. Conclusion: There were significant positive changes in food patterns, behaviors, and alleviation of burden of care in children with PKU and their families after 6-months on sapropterin treatment
606			_aDietary Patterns
606			_aCaregiver Burden
606			_aPhenylketonurias
606			_aAcademic Dissertation
700			_aGama _bMaria Inês Ferreira da Rocha
702			_4727 _924870 _aMacDonald _bAnita
702			_4727 _922196 _aRocha _bJúlio César
801			_aPT _bNMS _gRPC
856			_uhttp://hdl.handle.net/10362/162747
090			_a16343
942			_cDLEC _n0