• Perinatal neurology and orphan diseases in Ukraine: problems and perspectives

Perinatal neurology and orphan diseases in Ukraine: problems and perspectives

PERINATOLOGIYA I PEDIATRIYA. 2017.2(70):126-133; doi 10.15574/PP.2017.70.126

Kirilova L. G., Miroshnikov O. O., Yuzva O. O., Kizlyak-Bubryak M. E.
SI «Institute of Pediatrics, Obstetrics and Gynecology of NAMS of Ukraine», Kyiv

The article analyzes the modern approaches for understanding rare (orphan) diseases from perinatal neurology point of view. Basic problems of orphan diseases management in Ukraine are reviewed and some ways of their solution suggested. A case of patient with orphan disease (Sotos syndrome) and autism spectrum disorder is presented.

Key words: orphan disease, perinatal neurology, autism spectrum disorders.

References
1. Global Strategy for the Health of Women and Children. World Health Organization. 2010. http://www.who.int/pmnch/activities/jointactionplan/20100910_gswch_russian.pdf, free.

2. Kirillova L. (2014). Congenital malformations of the central nervous system – the urgent medical and social problem of national importance. Ukrainian Medical Journal. 6(80): 35-38.

3. Lukyanova OM et al. (2004). Recent advances in perinatal neurology Ukraine. Perynatology and Pediatrics. 2: 3-6.

4. Evtushenko SK. (2003). Non-ordinary (rare) syndromes and diseases of the nervous system in children and adults. Materials of the Intern Scientific-practical Conf. Ed Prof SK Evtushenko. Donetsk – Svyatogorsk: 3-5.

5. Sachs O. (2006). The man who took his wife for the hat of St. Petersburg.

6. Parliamentary hearings "Education, health and welfare of children with mental and physical development: problems and solutions". June 4, 2014, 15 hours. Stenohramma meeting. http://kno.rada.gov.ua/komosviti/control/uk/publish/article?art_id=61951&cat_i

7. Aronson J. (2006). Rare diseases and orphan drugs. Br J Clin Pharmacol. 61(3): 243-4. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1885017/ ; https://doi.org/10.1111/j.1365-2125.2006.02617.x

8. Baujat G1, Cormier-Daire V. (2007, Sep 7). Sotos syndrome. Orphanet J Rare Dis. 2: 36. https://doi.org/10.1186/1750-1172-2-36; PMid:17825104 PMCid:PMC2018686

9. Bavisetty S et al. (2013). Emergence of pediatric rare diseases. Rare Diseases. 1. http://www.tandfonline.com/doi/full/10.4161/rdis.23579 ; https://doi.org/10.4161/rdis.23579; PMid:25002987 PMCid:PMC3932940

10. European Commission. Useful Information on Rare Diseases from an EU Perspective. Health & Consumer Protection Directorate-General

http://ec.europa.eu/health/ph_information/documents/ev20040705_rd05_en.pdf

11. EURORDIS.The Voice of 12,000 Patients.Experiences and Expectations of Rare Disease Patients on Diagnosis and Care in Europe.

http://www.eurordis.org/IMG/pdf/voice_12000_patients/EURORDISCARE_FULLBOOKr.pdf

12. Frye RE, Rossignol DA. (2016, Jun 15). Identification and Treatment of Pathophysiological Comorbidities of Autism Spectrum Disorder to Achieve Optimal Outcomes. Clin Med Insights Pediatr.10: 43-56. doi 10.4137/CMPed.S38337. eCollection 2016.

13. Frye RE. (2015, Jun). Metabolic and mitochondrial disorders associated with epilepsy in children withautism spectrum disorder. Epilepsy Behav. 47: 147-57. https://doi.org/10.1016/j.yebeh.2014.08.134. Epub 2014 Nov 4.

14. Global Genes. Rare diseases: facts and statistics. http://globalgenes.org/rare-diseases-facts-statistics/

15. Hyland S. (2011). Toward a behavioural phenotype for Sotos syndrome. Clin Psy D thesis, University of Birmingham.

16. Engel PA et al. (2013). Physician and patient perceptions regarding physician training in rare diseases: the need for stronger educational initiatives for physicians. Journal of Rare Disorders. 1; Is 2. http://www.journalofraredisorders.com/pub/IssuePDFs/Engel.pdf

17. Rare Diseases UK. Key Statistics from the RDUK Report ‘Experiences of Rare Diseases: An Insight from Patients and Families’. http://raredisease.org.uk/ index.htm

18. Rudolph C, Rudolph A, Lister GE et al. Eds Rudolph's Pediatrics, 22nd edn. New York, NY: McGraw-Hill Professional,

19. Shire Rare Disease Impact Report: Insights from patients and the medical community. 2013. http://www.geneticalliance.org.uk/docs/e-update/rare-diseaseimpact-report.pdf

20. Tatton-Brown K, Rahman N. (2007). Sotos Syndrome. European Journal of Human Genetics. 15: 264–271. https://doi.org/10.1038/sj.ejhg.5201686; PMid:16969376

Содержание журнала Full text of article