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

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.

[1]  E. Vegni,et al.  Psychological and psychosocial implications for parenting a child with phenylketonuria: a systematic review. , 2019, Minerva pediatrica.

[2]  L. Florescu,et al.  P362 Iron status in children with phenylketonuria from a regional centre from north-eastern of romania , 2017, Archives of Disease in Childhood.

[3]  A. Wittkowski,et al.  Treatment Adherence and Psychological Wellbeing in Maternal Carers of Children with Phenylketonuria (PKU). , 2017, JIMD reports.

[4]  I. Bergadá,et al.  Cognitive profiles of patients with early detected and treated congenital hypothyroidism. , 2017, Archivos argentinos de pediatria.

[5]  W. Resing,et al.  Individualized treatment to optimize eventual cognitive outcome in congenital hypothyroidism , 2016, Pediatric Research.

[6]  Javad Mahmoudi‐Gharaei,et al.  Intellectual and Developmental Status in Children With Hyperphenylalaninemia and PKU Who Were Screened in a National Program , 2015, Iranian journal of pediatrics.

[7]  N. Zwaveling-Soonawala,et al.  The severity of congenital hypothyroidism of central origin should not be underestimated. , 2015, The Journal of clinical endocrinology and metabolism.

[8]  E. Ashley.  Cognitive development in congenital hypothyroidism: is overtreatment a greater threat than undertreatment? , 2014, Annals of clinical biochemistry.

[9]  M. Polak,et al.  European Society for Paediatric Endocrinology Consensus Guidelines on Screening, Diagnosis, and Management of Congenital Hypothyroidism , 2014, Hormone Research in Paediatrics.

[10]  P. Farrell,et al.  Opportunities for quality improvement in cystic fibrosis newborn screening. , 2010, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

[11]  J. Gardner.  What you need to know about cystic fibrosis. , 2007, Nursing.

[12]  J. Wester.  A rare disease , 2007, Critical care.

[13]  F. Tudiver,et al.  Subclinical thyroid disorders and cognitive performance among adolescents in the United States , 2006, BMC pediatrics.

[14]  K. Klinger,et al.  Laboratory standards and guidelines for population-based cystic fibrosis carrier screening , 2001, Genetics in Medicine.

[15]  R. Ehrlich,et al.  Psychoeducational outcome in children with early-treated congenital hypothyroidism , 2000, Pediatrics.

[16]  I. Smith,et al.  Intelligence, motor skills and behaviour at 5 years in early-treated congenital hypothyroidism , 1991, European Journal of Pediatrics.

[17]  M. Rosenfeld,et al.  Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs. , 2004, MMWR. Recommendations and reports : Morbidity and mortality weekly report. Recommendations and reports.

[18]  F. Chiarotti,et al.  Psychiatric disorders in adolescent and young adult patients with phenylketonuria. , 2016, Molecular genetics and metabolism.

[19]  D. Anton-Păduraru,et al.  ETYHICAL ISSUES IN CYSTIC FIBROSIS , 2016 .

[20]  E. R. F. Baekelandt,et al.  Background Paper 6.19 Rare Diseases , 2013 .