Health related quality of life in children with crigler- najjar syndrome / Reem Mohamed Mahmoud Ramdan Abdelkareem ; Supervised Mortada Hassan Elshabrawi , Ola Omar Shahin , Sherif Ramzy Baroudy

Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics

Aim of work:1- To assess HRQOL among pediatric patients with CNS and correlate it with the severity of the disease. 2- Assessment the cognitive functions in patients with CNS. Patients and methods: Cross- sectional observational study for all cases diagnosed with CNS typy1. HRQOL was assessed by using World Health Organization Quality Of Life BREF questionnaire (WHOQOL-BREF) for cases and the study short form-36(SF-36).The cognitive functions was assessed by Stanford{u2013}Binet Intelligence Scale: Fifth Edition (SB5). ResultsThe mean ±SD age of the patients was 5.48 ± 3.44 years. Eleven of them were females (57.1%), the other of them nine were males (42.9%) with age ranging between 1 to 18 years. No statistically significant difference was detected between cases and regards rural or urban residence or social level.The primary presented symptom was jaundice being present in sixteen (76.2%) of cases had mild degree of jaundice as a clinical presentation, three of them (14.3%) had skin pigmentation and five (23.8%) of them had neurological affection as a complications with no other system affection. The disease was chronic & non-curable. Sixteen (76.2%) of cases were diagnosed at the first month of life, twenty-one (100%) of cases had history of NICU admission, only five (32.8%) of cases had history of exchange transfusion as results of hyperbilirubinemia, only ten (47.6%) of cases had a compliance on phototherapy as a treatment

Issued also as CD