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• W2896566119 abstract "Rare diseases have great impact on both patients and family members’ life. The aim of the study was to identify socio-demographic characteristics and factors related to psychological and medical condition for pediatric patients diagnosed with phenylketonuria, cystic fibrosis and hypothyroidism. Material and methods: 37 children (24 boys and 13 girls) aged M = 7.61 ± 6.37 (1-22-years-old) were included in the research. A total of 44.7% are diagnosed with cystic fibrosis, 31.6% with phenylketonuria and 23.7% with hypothyroidism. Socio-demographic characteristics and psychological and medical data reported by mothers were registered to point the presence of some characteristics related to the diseases and to identify differences between the three categories of patients. Data have been processed using SPSS Statistics v23.0.0 for MAC.OSX. Results: Almost 1/5 of children diagnosed with hypothyroidism and phenylketonuria were found to have depression symp-toms and 1/3 of patients with hypothyroidism are having cognitive impairment associated in 40% of cases with language difficulties, and 20% of them present difficulties to adapt to so-cial environment. A total of 18.3% of children with cystic fibrosis presented enuresis and 20% of them has bruxism. Conclusions: children with rare disease present several psycho-logical symptoms and social difficulties, psychotherapeutically and educational support for both patients and families are needed." @default.
• W2896566119 created "2018-10-26" @default.
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• W2896566119 date "2017-09-30" @default.
• W2896566119 modified "2023-10-18" @default.
• W2896566119 title "SOCIO-DEMOGRAPHIC CHARACTERISTICS AND REPORTED PSY-CHO-MEDICAL SYMPTOMS FOR CHILDREN WITH RARE DISEASES. A COMPARATIVE STUDY BETWEEN PATIENTS WITH PHENYLKE-TONURIA, CYSTIC FIBROSIS AND HYPOTHYROIDISM" @default.
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