TY  - JOUR
TI  - A Closer Look at Familial Dysautonomia from a Social  Communication Perspective: A Case Report and Review  of Literature
AB  - Familial dysautonomia (Riley–Day syndrome) is a rare but fatal autosomal recessive peripheral  neuropathy caused by a point mutation in I-κ-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.
AU  - Dursun, Onur Burak
AU  - Turan, Bahadır
AU  - Yitik Tonkaz, Gülsüm
AU  - Esin, Ibrahim Selçuk
DO  - 10.5152/pcp.2022.21210
PY  - 2022
JO  - Psychiatry and clinical psychopharmacology (Online)
VL  - 32
IS  - 2
SN  - 2475-0581
SP  - 178
EP  - 180
DB  - TRDizin
UR  - http://search/yayin/detay/1174673
ER  -