الفهرس 
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Abstract
Phenylketonuria (PKU) is an inborn error of metabolism if untreated can lead to intellectual disability, seizures, behavioral problems, and mental disorders.
Early diagnosis and prompt intervention has undoubtedly permitted most individuals with phenylketonuria to evade severe mental disability. As a result, PKU is considered a medical success story but neuropsychological deficits, behavioural and social problems happen in certain patients, and (as a group) their mean neurocognitive level is some degree below their siblings or control groups from the general population.
The cornerstone of PKU treatment is a low Phe diet in combination with Phe-free L-amino acid supplements. Therefore, PKU patients must follow the lifelong protein restricted diet. It is conceivable that PKU influences PKU patients’ quality of life negatively. Quality of life is a multidimensional, dynamic and personal construct, includes physical, psychological and social domains in the context of the individual’s goals and expectations.
The aim of our study was to assess the impact of phenylketonuria on quality of life of PKU children using phenylketonuria quality of life questionnaires.
Our study is a cross-sectional descriptive study. It was conducted on children and adolescents ≤ 17 years who were diagnosed as PKU patient attending pediatric outpatient clinic of Maternity and children’s Hospital of Minia university, Minia Governorate during the study period between April and October 2019. Our patients were classified into 3 groups;
group I: children aged ≥ 2 to ≤ 9 years
group II: children aged > 9 to ≤11 years.
group III: adolescents aged >11 to≤ 17 years.
The studied groups were subjected to full history taking, clinical examination, laboratory investigations and PKU-QOL questionnaires the impact of phenylketonuria on quality of life
Our study showed that the majority of participants were have normal BMI (85.1%), but 14.9% of children were overweight, (65.7%) were under height, and (34.3%) had normal height.
The most frequent symptom in group1children was tiredness. The most frequent symptom in group 2 children was lack of concentration. The most frequent symptoms in group 3 children were headache, slow thinking and moodiness. The most frequent symptom in general was tiredness. Most parents reported that they don’t know if symptoms experienced by their children were related to PKU or not.
Median scores of self-rated health status were 50,0 in both group1and group3 (p > 0,05). There were statistically significant differences in domains of Headaches (p < 0,05) and lack of concentration (p < 0,05).
There are statistical differences between groups in emotional impact of PKU, anxiety e blood test and anxiety-Phe levels (p < 0,05). group 1 had the highest median scores regarding emotional impact of PKU, anxiety –blood test and anxiety-Phe levels domains that means negative impact on QOL.
In all three groups, median scores of guilt if dietary protein restriction not followed (75,0/50,0/25,0), but food enjoyment (50,0/25,0/37,5) were not significantly different (p > 0,05).
There were significant differences in adherence to dietary protein restriction, practical impact of dietary protein restriction and guilt if dietary protein restriction not followed between the 3 groups.(0.05).