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GENETIC SYNDROMES AS A CAUSE OF TREATMENT RESISTANCE IN SCHIZOPHRENIA: A CASE WITH TRIPLE X SYNDROME/ SIZOFRENIDE TEDAVIYE DIRENC NEDENI OLARAK GENETIK SENDROMLAR: TRIPLE X SENDROMLU BIR OLGU.

INTRODUCTION

Triple X syndrome is a relatively frequent cytogenetic condition occurring in one in 1000 females, with a high variety of physical and behavioral phenotypes. Components of the syndrome are learning disabilities, delays in motor and language development, dysmorphic facial appearances and cardiac and urogenital system anomalies. Over-dosage of some X-linked escapee genes was suggested to cause psychiatric disorders (1). To the best of our knowledge there is only one published data on psychosis with triple X syndrome (2). In this case, we report a 16-year-old girl with triple x syndrome and treatment-resistant schizophrenia who does not respond to two different atypical antipsychotic drugs.

CASE STUDY

A 16-year-old girl was referred to the outpatient clinic with various symptoms including self-talk, hostility towards her mother and uncle as well as constant cursing. These symptoms started to occur about 1 year ago and increased in the last 2 months. After mental examination, we detected that her cooperation and orientation was normal, she seemed hostile and angry, she had a dysphoric mood and poor language content. We also determined persecution delusions against her mother and uncle. Visual and auditory hallucinations were the other prominent symptoms. Her abstraction was insufficient and she was in complete denial of her illness. In her physical examination, it was found that she had greater than usual or standard length and extremities, and had a dysmorphic face. In addition, her neurological examination was normal. The patient was diagnosed with schizophrenia and intellectual disability according to The Diagnostic and Statistical Manual of Mental Disorders, 5th ed. (DSM-5) diagnostic criteria. The initial Positive and Negative Syndrome Scale (PANSS) Score was 123. The risperidone treatment was started and the dose was gradually enhanced to 5 mg/day in 8 weeks. Risperidone was stopped due to lack of response and then aripiprazole was administered. With regard to her phenotypic features (ex. height) and drug-resistance with risperidone, the genetic test was studied. As a result of the genetic test, an extra X chromosome was determined and she was diagnosed with Triple X syndrome. After adequate time (8 weeks) and dosage (30 mg/day) of aripiprazole, the patient did not exhibit any change in PANSS points. Olanzapine was prescribed and had a partial response to the psychotic symptoms. Clozapine treatment was planned if the olanzapine treatment resistance occured.

DISCUSSION

X chromosome plays an important role in the development of psychiatric disorders (3). Over-dosage of X-linked escapee genes due to an extra X chromosome was suggested to contribute to the development of psychiatric symptoms in Triple X syndrome (XXX). The most common psychiatric disorders present among individuals with Trisomy X included anxiety disorders, (40%), Attention-Deficit Disorder (17%), and depressive disorders (11%) (4). It is remarkable that genetic syndromes may be associated with resistance to treatment of psychiatric problems. Psychiatric symptoms may be affected by gene polymorphisms in genetic syndromes, which may complicate treatment compliance. At the same time, genetic diseases may remodel receptor regulation and cause resistance to treatment. We have tried to illustrate the fact that the diagnosis of schizophrenia may be co-occurred by triple x syndrome and that treatment resistance may be encountered. Therefore, the genetic analysis, especially in treatment-resistant cases, may be suggested.

Ethics Committee Approval: This study was not approved by an ethical committee. (Case Report)

Informed Consent: Written consent was obtained from the participants.

Peer Review: Externally peer-reviewed.

Author Contributions: Conception/Design of Study- B.T., M.A.A., I.S.E., O.B.D.; Data Acquisition- M.A.A., I.S.E., O.B.D., B.T.; Data Analysis/Interpretation- I.S.E., O.B.D., M.A.A., B.T.; Drafting Manuscript- B.T., O.B.D., I.S.E., M.A.A.; Critical Revision of Manuscript- O.B.D., B.T., I.S.E., M.A.A.; Final Approval and Accountability- I.S.E., B.T., M.A.A., O.B.D.; Technical or Material Support- I.S.E., B.T., M.A.A., O.B.D.; Supervision- O.B.D., I.S.E., B.T., M.A.A.

Conflict of Interest: Authors declared no conflict of interest.

Financial Disclosure: Authors declared no financial support.

Etik Komite Onayi: Etik komite onayi alinmamistir. (Olgu sunumu)

Bilgilendirilmis Onam: Katilimcilardan bilgilendirilmis onam alinmistir.

Hakem Degerlendirmesi: Dis bagimsiz.

Yazar Katkilari: Calisma Konsepti/Tasarim- B.T., M.A.A., I.S.E., O.B.D.; Veri Toplama- M.A.A., I.S.E., O.B.D., B.T.; Veri Analizi/Yorumlama-I.S.E., O.B.D., M.A.A., B.T.; Yazi Taslagi- B.T., O.B.D., I.S.E., M.A.A.; Icerigin Elestirel Incelemesi- O.B.D., B.T., I.S.E., M.A.A.; Son Onay ve Sorumluluk- I.S.E., B.T., M.A.A., O.B.D.; Malzeme ve Teknik Destek- I.S.E., B.T., M.A.A., O.B.D.; SupervizyonO.B.D., I.S.E., B.T., M.A.A.

Cikar Catismasi: Yazarlar cikar catismasi beyan etmemislerdir.

Finansal Destek: Yazarlar finansal destek beyan etmemislerdir.

REFERENCES

(1.) Afshan A. Triple X syndrome. J Pak Med Assoc 2012;62(4):392.

(2.) Woodhouse WJ, Holland AJ, McLean G, Reveley AM. The association between triple X and psychosis. Br J Psychiatry. 1992;160(4):554-7. [CrossRef]

(3.) Otter M, Schrander-Stumpel CT, Curfs LM. Triple X syndrome: a review of the literature. Eur J Hum Genet. 2010;18(3):265. [CrossRef]

(4.) Lenroot RK, Blumenthal JD, Wallace GL, Clasen LS, Lee NR, Giedd JN. A case-control study of brain structure and behavioral characteristics in 47, XXX syndrome. Genes Brain Behav. 2014;13(8):841-9. [CrossRef]

Bahadir TURAN (1) [iD], Mehmet Akif AKINCI (2) [iD], Ibrahim Selcuk ESIN (2) [iD], Onur Burak DURSUN (3) [iD]

(1) Ministry of Health, Agri State Hospital, Child and Adolescent Psychiatry Outpatient Clinic, Agri, Turkey

(2) Ataturk University, Faculty of Medicine, Department of Child and Adolescent Psychiatry, Erzurum, Turkey

(3) University of Health Sciences, Faculty of Medicine, Trabzon Kanuni Education and Research Hospital, Department of Child and Adolescent Psychiatry, Trabzon, Turkey

ORCID IDs of the authors: B.T. 0000-0003-1190-9589; M.A.A. 0000-0002-6436-4394; I.S.E. 0000-0001-5598-2097; O.B.D. 0000-0003-2990-9851

Cite this article as: Turan B, Akinci MA, Esin IS, Dursun OB. Genetic syndromes as a cause of treatment resistance in schizophrenia: a case with triple x syndrome. J Ist Faculty Med 2019;82(3):162-3. doi: 10.26650/IUITFD.2019.0011

Corresponding author/Iletisim kurulacak yazar: esinibrahimselcuk@gmail.com

Submitted/Basvuru: 24.01.2019 * Revision Requested/Revizyon Talebi: 15.02.2019 * Last Revision Received/Son Revizyon: 21.02.2019 * Accepted/Kabul: 04.03.2019 * Published Online/Online Yayin: 19.06.20019

DOI: 10.26650/IUITFD.2019.0011
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Title Annotation:CASE REPORT / OLGU SUNUMU
Author:Turan, Bahadir; Akinci, Mehmet Akif; EsIn, Ibrahim Selcuk; Dursun, Onur Burak
Publication:Journal of Istanbul Faculty of Medicine
Date:Sep 1, 2019
Words:1109
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