ПЕРИНАТАЛЬНАЯ НЕВРОЛОГИЯ И ОРФАННЫЕ ЗАБОЛЕВАНИЯ В УКРАИНЕ: ПРОБЛЕМЫ И ПЕРСПЕКТИВЫ

Авторы

  • L. G. Kirilova ГУ «Институт педиатрии, акушерства и гинекологии НАМН Украины», г. Киев, Ukraine
  • O. O. Miroshnikov ГУ «Институт педиатрии, акушерства и гинекологии НАМН Украины», г. Киев, Ukraine
  • O. O. Yuzva ГУ «Институт педиатрии, акушерства и гинекологии НАМН Украины», г. Киев, Ukraine
  • M. E. Kizlyak-Bubryak ГУ «Институт педиатрии, акушерства и гинекологии НАМН Украины», г. Киев, Ukraine

DOI:

https://doi.org/10.15574/10.15574/PP.2017.70.126

Ключевые слова:

орфанные заболевания, перинатальная неврология, расстройства аутистического спектра

Аннотация

В статье освещены современные подходы к пониманию редких (орфанных), с точки зрения перинатальной неврологии, заболеваний. Проанализированы основные проблемы в Украине с оказанием помощи пациентам с орфанными заболеваниями и предложены пути их решения. Представлен клинический случай пациента с орфанным заболеванием (синдромом Сотоса) в сочетании с расстройством аутистического спектра.

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Актуальные вопросы педиатрии