A Closer Look at Familial Dysautonomia from a Social Communication Perspective: A Case Report and Review of Literature

TURAN B., Tonkaz G. Y., Esin İ. S., Dursun O. B.

PSYCHIATRY AND CLINICAL PSYCHOPHARMACOLOGY, cilt.32, sa.2, ss.178-180, 2022 (SCI-Expanded) identifier identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 32 Sayı: 2
  • Basım Tarihi: 2022
  • Doi Numarası: 10.5152/pcp.2022.21210
  • Dergi Adı: PSYCHIATRY AND CLINICAL PSYCHOPHARMACOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.178-180
  • Anahtar Kelimeler: Child and adolescent psychiatry, clinical genetics, mood disorders, neurodevelopmental disorders, neuroradiology
  • Karadeniz Teknik Üniversitesi Adresli: Evet

Özet

Familial dysautonomia (Riley Day syndrome) is a rare but fatal autosomal recessive peripheral neuropathy caused by a point mutation in I-kappa-B kinase complex-associated protein gene. The disease, which affects primarily people of Ashkenazi Jewish origin, prejudices the development of primary sensory neurons determining the depletion of autonomic and sensory neurons. In this study, we report a 5-year-old girl with familial dysautonomia, and how her different psychiatric aspects may lead to genetic vulnerability. Obviously, the gene, the reason for this syndrome, and overreactions to different kinds of emotions, maybe a risk factor for having any mood disorders. From another perspective, this "genetic vulnerability" may be protective or related to the syndromes that affect social communication like autism.