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Öğe Atomoxetine Treatment in a Patient with the Comorbidity of Attention Deficit Hyperactivity Disorder and Fragile X Syndrome(Yerkure Tanitim & Yayincilik Hizmetleri A S, 2019) Okyar, Esra; Bozatli, Leyla; Gorker, IsikFragile X Syndrome is a genetic disease defined by cognitive and behavioral characteristics that accompany apparent physical features. Male individuals are affected by this syndrome more severely, and it is the most common cause of mental retardation in men. The most common accompanying psychiatric conditions are mental retardation, autism, Attention Deficit Hyperactivity Disorder (ADHD), anxiety disorder, depression, sleep disorders and aggression. Anxiety, depression, shyness and social withdrawal are more common in female individuals. The diagnosis and treatment of the ADHD and selective mutism in a female adolescent patient who was Fragile X full mutant will be discussed in this case report.Öğe Chromosomal Microarray Analysis in Turkish Patients with Unexplained Developmental Delay and Intellectual Developmental Disorders(Turkish Neuropsychiatry Assoc-Turk Noropsikiyatri Dernegi, 2020) Gurkan, Hakan; Atli, Emine Ikbal; Atli, Engin; Bozatli, Leyla; Altay, Menguhan Araz; Yalcintepe, Sinem; Ozen, YaseminIntroduction: Aneuploids, copy number variations (CNVs), and single nucleotide variants in specific genes are the main genetic causes of developmental delay (DD) and intellectual disability disorder (IDD). These genetic changes can be detected using chromosome analysis, chromosomal microarray (CMA), and next-generation DNA sequencing techniques. Therefore; In this study, we aimed to investigate the importance of CMA in determining the genomic etiology of unexplained DD and IDD in 123 patients. Method: For 123 patients, chromosome analysis, DNA fragment analysis and microarray were performed. Conventional G-band karyotype analysis from peripheral blood was performed as part of the initial screening tests. FMR1 gene CGG repeat number and methylation analysis were carried out to exclude fragile X syndrome. Results: CMA analysis was performed in 123 unexplained IDD/DD patients with normal karyotypes and fragile X screening, which were evaluated by conventional cytogenetics. Forty-four CNVs were detected in 39 (39/123=31.7%) patients. Twelve CNV variant of unknown significance (VUS) (9.75%) patients and 7 CNV benign (5.69%) patients were reported. In 6 patients, one or more pathogenic CNVs were determined. Therefore, the diagnostic efficiency of CMA was found to be 31.7% (39/123). Conclusion: Today, genetic analysis is still not part of the routine in the evaluation of IDD patients who present to psychiatry clinics. A genetic diagnosis from CMA can eliminate genetic question marks and thus alter the clinical management of patients. Approximately one-third of the positive CMA findings are clinically intervenable. However, the emergence of CNVs as important risk factors for multiple disorders increases the need for individuals with comorbid neurodevelopmental conditions to be the priority where the CMA test is recommended.Öğe Clinical exome sequencing reveals an important role for clinical diagnosis of intellectual disability with definition of seven novel variants(Asean Neurological Assoc, 2023) Yalcintepe, Sinem; Gorker, Isik; Bozatli, Leyla; Guler, Hazal Sezginer; Zhuri, Drenushe; Demir, Selma; Atli, Emine IkbalIntellectual disability can be defined as a significantly below-average general mental function, accompanied by environmental adaptation and behavioural deterioration. Patient files of 87 children with intellectual disability were evaluated in this study. After clinical exclusion criterias, clinical exome sequencing was performed for 25 of 87 intellectual disability cases with a massively parallel targeted sequencing method. Seventeen variants in the genes MBOAT7, KDM5C, TUBB3, MAN1B1, GFAP, CACNA1A, BCOR, LMNA, LBR, ALS2, ENPP1, UBE3A, TRAPPC9, HSPG2, AFF2, NLGN4, and SOX10 were identified in 14 of 25 patients (56%). Seven of the 17 variants (41.1%) were novel in the genes KDM5C, BCOR, UBE3A, TRAPPC9, AFF2, NLGN4, and SOX10. Seven cases (7/25, 28%) had a definite diagnosis of intellectual disability with their pathogenic variants. The high rate of variant detection (56%) in the current study shows that multiple gene analysis plays an essential role in diagnosing the uncertain etiology of intellectual disability. This study also presents seven novel variants, which are first reported.Öğe Current Pattern of Psychiatric Comorbidity and Psychotropic Drug Prescription in Child and Adolescent Patients(Mdpi, 2019) Altay, Menguhan Araz; Bozatli, Leyla; Sipka, Begilm Demirci; Gorker, IsikBackground: In recent years, patterns of the use of psychotropic drugs vary with increasing rates of psychiatric presentation and diagnosis in children and adolescents. Purpose: In this study, we aimed to investigate distributions of current psychiatric symptoms and diagnosis, patterns of the use of psychotropic drugs, and differences according to age and gender in patients presented to a child and adolescent outpatient clinic. Methods: All patients aged between 0 and 18 years presenting to a child and adolescent psychiatry outpatient clinic between November 1, 2017 and November 1, 2018 were included in the study. Files of all patients were examined in detail, and patients' demographic characteristics, symptoms, psychiatric diagnoses established according to the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), psychotropic drugs initiated, and side effect profiles were recorded. Psychiatric symptoms and diagnostic features of the patients were determined, and the differences were investigated according to gender. Clinical characteristics were compared between diagnosed and undiagnosed patients, and between patients with and without drug initiation. Results: Of the 2066 patients, 1298 (62.8%) were male and the mean age was 10.14 +/- 4.42 years. The most common symptoms were hyperactivity (23.8%) and inattention (21.6%) in males, inattention (15.1%) and irritability (14.2%) in females, and 79% of the patients received one or more psychiatric diagnoses. The most common psychiatric diagnoses in both genders were attention-deficit hyperactivity disorder (ADHD), specific learning disorder (SLD), and conduct disorder, respectively. Of the patients who received a psychiatric diagnosis, 61.8% were using psychotropic drugs, with the majority of them (71.3%) receiving monotherapy. The most frequently initiated drugs included psychostimulants, antipsychotics, and antidepressants, with 28.7% of the drug user patients receiving multiple drug therapy. Conclusion: Our study indicates that rate of presentation to child and adolescent psychiatry outpatient clinics is increasing, and rates of diagnosis and initiation of psychiatry drugs are high among the presented children. The prevalence of ADHD shows an increase in males and females in our country, and psychiatric polypharmacy has reached significant rates.Öğe Drug-refractory irritability and related factors in autistic children(Taylor & Francis Ltd, 2024) Aykutlu, Hasan C.; Bozatli, Leyla; Gorker, Isik; Okyar, Esra; Uzun-Cicek, Ayla; Ucuz, Ilknur; Dogru, HicranObjectivesAutistic children frequently exhibit irritability, which can manifest as aggression, self-injurious behaviour, and severe tantrums, leading to significant impairments. Two atypical antipsychotics have been licensed by the Food and Drug Administration for the treatment of irritability in autistic children, although a significant percentage of these children do not respond to this treatment. This study aimed to determine the frequency of drug refractory irritability (DRI) and identify the risk factors in a large clinical sample of autistic children.MethodsThe medical records of 1279 children aged 2-18 years diagnosed with autism and undergoing clinical follow-up were retrospectively analysed. Socioeconomic and clinical characteristics, co-occurring psychiatric disorders and physical conditions were recorded.Results55% of the sample used antipsychotics to treat irritability, and 8.2% met the DRI criteria. Older age, severe support requirement for autism, language impairment, anxiety disorders, sleep difficulties, gastrointestinal system, and dental problems were found to significantly increase the risk of DRI.ConclusionOur findings indicate that a significant proportion of the clinical sample of autistic children had DRI. The physical, psychiatric, and environmental risk factors identified in our study also highlight heterogeneity in the etiology of DRI. Further research on DRI is needed to develop treatment and prevention strategies.Öğe How Did the Pandemic Affect Autistic Children and Their Families? Challenges and Psychosocial Impacts(Galenos Publ House, 2023) Aykutlu, Hasan Cem; Guneydas Yildirim, Burcu; Bozatli, Leyla; Kose, Ekin Beyza; Gorker, IsikAim: Children with autism spectrum disorder (ASD) are especially vulnerable to the pandemic due to their need for routine and difficulty in adapting to change. The aim of this study was to evaluate the psychosocial impact of the Coronavirus disease-2019 (COVID-19) pandemic on children diagnosed with ASD and their families and the challenges they faced during this period. Materials and Methods: We surveyed 85 parents of children with ASD aged 3-18 years, who were followed up in our clinic between the years of 2020 and 2021. We assessed ASD families' pandemic impact with the Child and Adolescent Reactions to Stressful Situations-Autism Family Adaptation and Resilience items. Parents answered the questionnaire online or by phone. Results: The mean age of the children was 10.3 +/- 4.1 years, 65 were boys and 20 were girls. 10.6% of the families had a medical emergency during the pandemic. The most common behavioral problems were anger, difficulty in concentrating, and hyperactivity. 37.6% of the children could not receive educational support, 74.1% could not receive treatment, 31.1% had difficulty in reaching a doctor, and 7.8% had difficulty in affording treatment. Furthermore, 33% of the children spent more than 4 hours a day on screens. 61.2% of parents rated the pandemic quarantine process as more difficult than before. Conclusion: The pandemic disrupted the daily routines, special education, rehabilitation, and health care services of children with ASD. It also increased their behavioral problems. Therefore, recognizing and addressing the psychological needs of children with special needs, such as ASD, will be an important part of the response to future disasters.Öğe Improvement of stuttering with use of methylphenidate in a child who was diagnosed with concomitant stuttering and ADHD(Cumhuriyet Univ Tip Fak Psikiyatri Anabilim Dali, 2016) Bozatli, Leyla; Berberoglu, Kivan Kudret; Ceylan, Cansin; Gorker, IsikStuttering is a psychological, neurological and neurophysiological rhythmic disorder in an understandable speech that is characterized by hesitation in speech flow, standstill with repeating a word or a sound, extension of a sound. Etiology of stuttering is not exactly known. In this case presentation, it is aimed to discuss the disappearance of stuttering in an 11 year old child who was diagnosed with stuttering and ADHD after treating with methylphenidate extended release.Öğe The Probable Prevalence and Sociodemographic Characteristics of Specific Learning Disorder in Primary School Children in Edirne(Turkish Neuropsychiatry Assoc-Turk Noropsikiyatri Dernegi, 2017) Gorker, Isik; Bozatli, Leyla; Korkmazlar, Umran; Karadag, Meltem Yucel; Ceylan, Cansin; Sogut, Ceren; Aykutlu, Hasan CemIntroduction: The aim of this study was to research the probable prevalence of Specific Learning Disorder (SLD) in primary school children in Edirne City and the relationships with their sociodemographic characteristics. Methods: The sample of our study was composed of 2,174 children who were educated in primary schools in second, third, and fourth grades in the academic year 2013-2014 in Edirne City. The teachers and parents of these children were given Specific Learning Difficulties Symptom Scale, Learning Disabilities Symptoms Checklist (teacher and parent forms), and sociodemographic data forms to fill in. Binary logistic regression analysis was used to assess the risk factors for SLD. Results: Our study revealed that the probable prevalence of SLD was 13.6%; 17% for boys and 10.4% for girls. Reading impairment was 3.6%, writing impairment was 6.9%, and mathematic impairment was 6.5%. We determined that consanguineous marriages, low income, history of neonatal jaundice were found as risks for SLD; born by caesarean, developmental delay of walking, and history of neonatal jaundice were found as risks for mathematic impairment. A history of learning difficulties of parents was a risk factor for forming SLD and subtypes. Conclusion: Our findings were consistent with other study results about the prevalence of SLD. The relationships between the probable prevalence rates and sociodemographic data were discussed.Öğe Psychogenic polydipsia associated with sertraline treatment: a case report(Taylor & Francis Ltd, 2019) Okyar, Esra; Bozatli, Leyla; Gorker, Isik; Okyar, SerapPsychogenic polydipsia (PP) is a clinical condition characterized by excessive fluid intake in the absence of physiological stimuli to drink. The etiology of compulsive water drinking is not known yet. It is common in people with chronic mental illness, especially in schizophrenia. Obsessive-compulsive disorder (OCD) is characterized by the presence of recurrent obsessions and compulsions which may cause anxiety in the person. The age of onset is bimodal, before puberty and early adulthood. In this case report, we will discuss the PP situation after the start of sertraline treatment in a case of 12-year-old girl who started sertraline treatment with the diagnosis of OCD.Öğe Using urine FTIR spectra to screen autism spectrum disorder(Nature Portfolio, 2023) Sarigul, Neslihan; Bozatli, Leyla; Kurultak, Ilhan; Korkmaz, FilizAutism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder caused by multiple factors, lacking clear biomarkers. Diagnosing ASD still relies on behavioural and developmental signs and usually requires lengthy observation periods, all of which are demanding for both clinicians and parents. Although many studies have revealed valuable knowledge in this field, no clearly defined, practical, and widely acceptable diagnostic tool exists. In this study, 26 children with ASD (ASD+), aged 3-5 years, and 26 sex and age-matched controls are studied to investigate the diagnostic potential of the Attenuated Total Reflectance-Fourier Transform Infrared (ATR-FTIR) spectroscopy. The urine FTIR spectrum results show a downward trend in the 3000-2600/cm region for ASD+ children when compared to the typically developing (TD) children of the same age. The average area of this region is 25% less in ASD+ level 3 children, 29% less in ASD+ level 2 children, and 16% less in ASD+ level 1 children compared to that of the TD children. Principal component analysis was applied to the two groups using the entire spectrum window and five peaks were identified for further analysis. The correlation between the peaks and natural urine components is validated by artificial urine solutions. Less-than-normal levels of uric acid, phosphate groups, and ammonium (NH4+) can be listed as probable causes. This study shows that ATR-FTIR can serve as a practical and non-invasive method to screen ASD using the high-frequency region of the urine spectrum.