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Introduction: Genetic factors play an important role in the etiopathogenesis of autism spectrum disorder (ASD). The Pogo Transposable Element with ZNF Domain protein (POGZ) gene (MIM*614787) has been reported to be one of the most frequently mutated genes associated with ASD. This study aims to analyze the exonic regions of the POGZ gene in individuals diagnosed with non-syndromic ASD. Methods: Fifty-one non-syndromic cases diagnosed with ASD according to the DSM-V diagnostic criteria, aged 2-18 years, were included in the study. The healthy control group consisted of 50 children of similar age groups without neurodevelopmental problems. Amplicons produced using deep intronic primers covering the mRNA-encoded regions of the POGZ gene from at least 50 base pairs were sequenced by Next Generation Sequencing Analysis. Results: No pathogenic or likely pathogenic variants reported in open-access databases (ClinVar, HGMD, etc.) were detected in the case group. In the ASD and healthy control groups, rs113396244, rs11204811, rs779479223, rs772352054, rs3831142, rs112072925, rs227453 and rs142860188 variants were determined. The rs3831142, rs112072925, rs2274535, rs142860188 variants were found statistically significant in the ASD group. The distribution of the cases with detected single nucleotide polymorphisms (SNPs) according to gender was not statistically significant. Conclusion: The variants identified as statistically significant within the patient group are situated in regions that encompass both the HP1-ZNF and DDE domains of the protein. Given the crucial role that the DDE domain plays, particularly in fetal brain development and neurogenesis, these four variants may potentially possess modifying and/or predisposing effects in the context of ASD. [ABSTRACT FROM AUTHOR]

Introduction: Autism spectrum disorder is a genetically and phenotypically heterogeneous group. Genetic studies carried out to date have suggested that both common and rare genetic variants play a role in the etiology of this disorder. In our study, we aimed to investigate the effect of FOXP2, GRIN2B, KATNAL2 and GABRA4 gene variants in the pathogenesis of autism spectrum disorder. Method: In our prospectively planned study, all exons and exon-intron junctions of FOXP2, GRIN2B, KATNAL2 and GABRA4 genes were screened by next generation sequencing analysis in 96 patients who diagnosed with autism spectrum disorder. Results: In our study, the average age was 10.1 and the male/female ratio was 75/21. Pathogenic or likely pathogenic variants were not detected in FOXP2, GRIN2B, KATNAL2 and GABRA4 genes, however, 69 intronic variants of unknown clinical significance were detected in 50 cases (52%). Among those, 26 were in the GABRA4 gene, 22 in the FOXP2 gene, 13 in the KATNAL2 gene, and 8 in the GRIN2B gene. Twenty three of these 69 variants were novel that were not previously reported in the literature. Conclusion: In our study, we could not identify a relationship between the autism spectrum disorder and FOXP2, GRIN2B, KATNAL2 and GABRA4 genes. Identifying genetic risk factors that play a role in the etiopathogenesis of autism spectrum disorder will contribute significantly to understanding the molecular mechanisms of the disease and the development of new treatment strategies. In this context, comprehensive molecular genetic studies such as whole exome or whole genome sequencing are required with higher number of cases in different populations. [ABSTRACT FROM AUTHOR]

Introduction: 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. [ABSTRACT FROM AUTHOR]

Aim: The development of whole-genome screening methodologies for the detection of copy number variations (CNVs), such as array-based comparative genomic hybridization (aCHG), provides a much higher resolution than karyotyping leading to the identification of novel microdeletion and microduplication syndromes often associated with an autism spectrum disease (ASD) phenotype. The aim of the study was to determine CNVs of patients with ASD by using array-based comparative genomic hybridization. Methods: Fifty-three patients diagnosed with ASD between 20.01.2014 and 14.01.2015 were included in the study. Chromosome analysis of the patients was performed from peripheral blood cultures and analysed as normal. All patients were evaluated with P064C1 and P096A2 MLPA probes in terms of 16 mental retardation related syndromes. For aCGH method, SurePrint G3 Human microarrays 8x60K were used with genomic DNA isolated from peripheral blood. Results: According to results of 53 patients who were included in and performed with arrayCGH, 8 (15%) patients had CNVs classified as pathogenic or variant of unknown significance (VOUS) in the study. We detected a pathogenic NRXN1 gene partial CNV deletion (2p16.3) in two patients. Also we identified a 900 kb duplication of 4p15.31 including SLIT2 gene, and a 245 kb duplication of 15q11.2 including PWRN1 gene in one patient. Our other findings are considered to be a variant of unknown significance (VOUS). Conclusion: The results of the study support the literature knowledge, where the copy number variations that cannot be detected with conventional cytogenetics methods in terms of size may happen in patients with ASD. [ABSTRACT FROM AUTHOR]

Introduction: In this study, the frequency of psychiatric comorbidity in children and adolescents who were diagnosed with specific learning disorder, the factors that affect the frequency of comorbidity, the subtypes of specific learning disorder and the effects on cognitive profile have been investigated. Methods: Our study was performed among 80 cases with the age range 6-15 years who diagnosed with specific learning disorder Child and Adolescent Psychiatry Department between January and June 2015. In the study, DSM-IV Based Screening and Evaluation Scale for Child and Adolescent Behavioral Disorders, Specific Learning Disability Evaluation Scale and the WISC-R test were performed. During the interview, reading-writing-math abilities evaluation list (error analysis) was performed in order to define the specific learning disorder subgroup and to evaluate the detailed error profile of the specific learning disorder subgroup. Kiddie Schedule for Affective Disorders and Schizophrenia for School-age Children-Present and Lifetime Turkish Version (KSADS) was performed to detect psychiatric comorbidity diagnoses. Results: 92.5% of the cases have a comorbid psychiatric disorder. The most frequent psychiatric comorbidity was attention deficit hyperactivity disorder (82.3%), followed by specific phobia (46.3%), oppositional defiant disorder (26.3%), enuresis (25%) and tic disorders (22.5%). Psychiatric comorbidity is detected more often in patients with specific learning disorder accompanied by attention deficit and hyperactivity disorder. The most frequent subtype of specific learning disorder is combined type disorder consisting of reading, writing and math disorder (37.5%). The WISC-R score of the patients who had math disorder were found to be lower than the others, and also it was detected that they learned reading and writing later, and have more comorbid psychiatric disorders. Conclusion: The results of our study indicate that associated psychiatric disorders are frequent with specific learning disorder. Specific learning disorder should not be considered as a single disorder, but should be assessed and treated with comorbid psychiatric disorders. [ABSTRACT FROM AUTHOR]

Introduction: 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. [ABSTRACT FROM AUTHOR]

Cerebellar mutism consisting of disruption speech output, hypotonia, ataxia, and emotional lability occurs after surgery for posterior fossa tumors. Although the mutism is transient, speech rarely normalizes and this condition is associated with adverse neurological, cognitive and psychiatric abnormalities. Possible mechanisms for its etiology include direct injury from surgical trauma, vasospasm, edema and hydrocephalus causing delayed injury to the cerebellar vermis, brainstem and dentate nuclei. In this study, the case of an adolescent patient, who had an astrocytoma and showed symptoms of cerebellar mutism, apathy, ataxi, hemiparesis and visual impairment after posterior fossa surgery, is presented. [ABSTRACT FROM AUTHOR]