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
Keywords:
CHILD, CYSTIC FIBROSIS, HYPO-THYROIDISM, PHENYL-KETONURIAAbstract
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.
References
14. Fuggle PW et al. Intelligence, motor skills and behavior at 5 years in early-treated congenital hypothyroidism. European J Ped 1991; 150(8): 570-574.
15. Campos MLP et al. Cognitive profiles of patients with early detected and treated congenital hypothyroidism. Arch Argent Ped 2017; 115(1):12-17.
16. Bongers-Schokking JJ et al. Individualized treatment to optimize eventual cognitive outcome in congenital hypothyroidism. Ped Res 2016; 80(6): 816-823.
17. Zwaveling-Soonawala N. et al. The severity of congenital hypothyroidism of central origin should not be underestimated. J ClinEndocMetab2015; 100(2): E297-E300.
18. Bongers-Schokking JJ et al. Cognitive development in congenital hypothyroidism: is overtreatment a greater threat than undertreatment? J ClinEndocMetab 2013; 98(11): 4499-4506.
19. Anton-Paduraru DT, Iorga M. Ethical issues in cystic fibrosis. Rom J Ped 2015; 64(4): 393-397.
20. Anton-Pǎduraru Dana-Teodora et al. P362 Iron status in children with phenylketonuria from a regional center from North-eastern of Romania. Arch Dis Childhood 2017; 102(2): A173-A173.
21. Léger J.et al. European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. J Clin Endoc Metab 2014; 99(2): 363-384.
Additional Files
Published
Issue
Section
License
COPYRIGHT
Once an article is accepted for publication, MSJ requests a transfer of copyrights for published articles.
COPYRIGHT TRANSFER FORM FOR
REVISTA MEDICO-CHIRURGICALĂ A SOCIETĂȚII DE MEDICI ȘI NATURALIȘTI DIN IAȘI /
THE MEDICAL-SURGICAL JOURNAL OF THE SOCIETY OF PHYSICIANS AND NATURALISTS FROM IASI
We, the undersigned authors of the manuscript entitled
_____________________________________________________________________________________
_____________________________________________________________________________________
warrant that this manuscript, which is submitted for publication in the REVISTA MEDICO-CHIRURGICALĂ, has not been published and it is not under consideration for publication in another journal.
- we give the consent for publication in the REVISTA MEDICO-CHIRURGICALĂ, in printed and electronic format and we transfer unconditioned and complete the copyright of this manuscript to the REVISTA MEDICO-CHIRURGICALĂ, in the event of its acceptance.
- the manuscript does not break the intellectual property rights of any other person.
- we have read the submitted version of the manuscript and we are fully responsible for the content.
Names and signatures of authors / copyright owners (the following sequence is the authorship of the article):
- ______________________________/_________________________
- ______________________________/_________________________
- ______________________________/_________________________
N.B. All the authors must sign this form