Finding underlying genetic mechanisms of two patients with autism spectrum disorder carrying familial apparently balanced chromosomal translocations.

BACKGROUND: Genetic etiologies of autism spectrum disorders (ASD) are complex, and the genetic factors identified so far are very diverse. In complex genetic diseases such as ASD, de novo or inherited chromosomal abnormalities are valuable findings for researchers with respect to identifying the underlying genetic risk factors. With gene mapping studies on these chromosomal abnormalities, dozens of genes have been associated with ASD and other neurodevelopmental genetic diseases. In the present study, we aimed to idenitfy the causative genetic factors in patients with ASD who have an apparently balanced chromosomal translocation in their karyotypes. METHODS: For mapping the broken genes as a result of chromosomal translocations, we performed whole genome DNA sequencing. Chromosomal breakpoints and large DNA copy number variations (CNV) were determined after genome alignment. Identified CNVs and single nucleotide variations (SNV) were evaluated with VCF-BED intersect and Gemini tools, respectively. A targeted resequencing approach was performed on the JMJD1C gene in all of the ASD cohorts (220 patients). For molecular modeling, we used a homology modeling approach via the SWISS-MODEL. RESULTS: We found that there was no contribution of the broken genes or regulator DNA sequences to ASD, whereas the SNVs on the JMJD1C, CNKSR2 and DDX11 genes were the most convincing genetic risk factors for underlying ASD phenotypes. CONCLUSIONS: Genetic etiologies of ASD should be analyzed comprehensively by taking into account of the all chromosomal structural abnormalities and de novo or inherited CNV/SNVs with all possible inheritance patterns.

Peroxisome Proliferator-Activated Receptor Gamma (PPARγ) Levels in Adolescent with Bipolar Disorder and Their Relationship with Metabolic Parameters.

Peroxisome proliferator-activated receptor gamma (PPARγ) is one of the immune and metabolic regulatory agents. This study examined the serum PPARγ levels and metabolic syndrome (MetS) parameters in pediatric bipolar disorder (PBD) adolescents and compared them with healthy subjects. Serum PPARγ levels, fasting blood glucose (FBG), high-density lipoprotein cholesterol (HDL-C), triglycerides (TG), and fasting insulin levels of 39 PBD-type I (age range: 14-18) and 36 age- and sex-matched healthy control subjects were compared. The anthropometric measurements were also analyzed, including body weight, height, body mass index (BMI), waist circumference (WC), and blood pressure measurements. The PPARγ levels were significantly lower, and the MetS prevalence was significantly higher in the PBD group than in the control group. The mean BMI, WC, serum TG, and FBG values of the PBD group were statistically higher than the healthy control group. There was no significant relationship between the PPARγ levels and metabolic parameters except fasting glucose. Lower PPARγ activity and higher MetS prevalence in PBD indicate dysregulation of immune and metabolic regulatory parameters. These results may shed light on developing new PBD medications.

Effect of Impairment on the Prevalence and Comorbidities of Attention Deficit Hyperactivity Disorder in a National Survey: Nation-Wide Prevalence and Comorbidities of ADHD.

OBJECTIVE: This study aimed to determine the prevalence and comorbidities of attention-deficit hyperactivity disorder (ADHD) by evaluating a large-scale nation-wide sample of children. METHOD: The inclusion criterion was being enrolled as a 2nd, 3rd, or 4th-grade student. A semi-structured diagnostic interview (K-SADS-PL), DSM-IV-Based Screening Scale for Disruptive Behavior Disorders, and assessment of impairment (by both parents and teachers) were applied to 5,842 participants. RESULTS: The prevalence of ADHD was 19.5% without impairment and 12.4% with impairment. Both ADHD with and without impairment groups had similar psychiatric comorbidity rates except for oppositional defiant disorder (ODD) and conduct disorder (CD) diagnoses. Impairment in the ADHD group resulted in significantly higher ODD and CD diagnoses. CONCLUSION: Even when impairment is not described, other psychiatric disorders accompany the diagnosis of ADHD and may cause impairment in the future. Impairment in the diagnosis of ADHD significantly increases the likelihood of ODD and CD.

Validity and reliability study of coronavirus-related psychiatric symptom scale in children - parental form.

OBJECTIVE: The aim of this study is to develop a scale to assess the psychiatric symptoms that may emerge owing to the coronavirus disease 2019 (COVID-19) pandemic period in children and adolescents aged 4-18 years. MATERIAL AND METHODS: To develop the scale, first, interviews with children, adolescents, and their parents were conducted, and the possible psychiatric symptom clusters were detected. The items were written with reference to the literature and reviewed by the experts. A 40-item scale form was shared as an online survey, and a factor analysis of the scale was carried out with data obtained from 441 participants. The test-retest reliability of the scale was carried out with data obtained from the 51 participants who filled the scale again after 14 days. RESULTS: According to the item-total correlations and factor analysis results with 40 items, 5 items with low correlation and factor load or loaded same under the two factors were removed from the scale. The final form had 35 items and had a two-factor structure. The internal consistency coefficient of the scale was calculated as 0.96, and the test-retest correlation coefficient was 0.98. CONCLUSION: Coronavirus-related psychiatric symptom scale in children - parental form is a valid and reliable scale for measuring perceived psychiatric symptoms associated with COVID-19pandemic in children aged 4-18 years by their parents.

Awareness and intervention approaches related to smoking addiction among child and adolescent psychiatrists.

AIM: To determine the attitudes of child and adolescent psychiatrists working in different institutions throughout Turkey towards smoking addiction and intervention steps. MATERIAL AND METHODS: An information form assessing physicians' 5As approach was established considering the studies included in the literature, and this form was applied to physicians working in the area of child psychiatry by way of e-mail and phone. RESULTS: Although most physicians (52.5%) asked about smoking status, which is included in the first step in the 5As approach used in smoking cessation, it was observed that they implemented further steps of the 5As with gradually decreasing rates in our study. Only 15% of the physicians performed follow-up in smoking cessation treatment. CONCLUSION: Physicians who work with pediatric and adolescent patients in Turkey have low levels of awareness about smoking addiction and they do not feel competent. Considering that tobacco and related addictions are gradually increasing in children and adolescents, physicians must receive training in the area of smoking cessation methods and start practicing these methods. It was thought that organizing smoking cessation training for physicians would contribute positively to the treatment of patients.

What Are the Psychosocial Factors Associated With Migraine in the Child? Comorbid Psychiatric Disorders, Family Functioning, Parenting Style, or Mom's Psychiatric Symptoms?

OBJECTIVE: Psychiatric diagnoses, parenting style, family functioning among children and adolescents with migraine, and psychiatric symptoms of their mothers were examined. METHODS: The K-SADS and other measurements were used to assess psychiatric disorders in 50 children with migraine (aged 8-18) and matched 50 controls. RESULTS: At least one psychiatric disorder was diagnosed in 56% of the migraine group. The presence of any psychiatric disorder in children (odds ratio [OR] = 2.765, P = .027) and somatization symptoms in their mothers (OR = 2.061, P = .025) were increasing the risk of migraine diagnosis. The parenting style scale assessments revealed that parents in the migraine group grant their children less autonomy. CONCLUSION: Psychiatric comorbidity, especially depression and anxiety disorders, is more common in children with migraine. The frequency of eating disorder is also higher. Evaluating comorbidity, family functioning, and particularly affective responsiveness in migraine families may guide the clinician to a targeted treatment plan.

Prevalence of Childhood Affective disorders in Turkey: An epidemiological study.

AIM: To determine the prevalence of affective disorders in Turkey among a representative sample of Turkish population. METHODS: This study was conducted as a part of the "The Epidemiology of Childhood Psychopathology in Turkey" (EPICPAT-T) Study, which was designed by the Turkish Association of Child and Adolescent Mental Health. The inclusion criterion was being a student between the second and fourth grades in the schools assigned as study centers. The assessment tools used were the K-SADS-PL, and a sociodemographic form that was designed by the authors. Impairment was assessed via a 3 point-Likert type scale independently rated by a parent and a teacher. RESULTS: A total of 5842 participants were included in the analyses. The prevalence of affective disorders was 2.5 % without considering impairment and 1.6 % when impairment was taken into account. In our sample, the diagnosis of bipolar disorder was lacking, thus depressive disorders constituted all the cases. Among depressive disorders with impairment, major depressive disorder (MDD) (prevalence of 1.06%) was the most common, followed by dysthymia (prevalence of 0.2%), adjustment disorder with depressive features (prevalence of 0.17%), and depressive disorder-NOS (prevalence of 0.14%). There were no statistically significant gender differences for depression. Maternal psychopathology and paternal physical illness were predictors of affective disorders with pervasive impairment. CONCLUSION: MDD was the most common depressive disorder among Turkish children in this nationwide epidemiological study. This highlights the severe nature of depression and the importance of early interventions. Populations with maternal psychopathology and paternal physical illness may be the most appropriate targets for interventions to prevent and treat depression in children and adolescents.

Quality of life and self-esteem in children with chronic tic disorder.

AIM: In this study, it was aimed to evaluate the quality of life and self-esteem in children and adolescents with Tourette syndrome (TS) and other chronic motor or vocal tic disorders in comparison with the control group. This is the first study examining the effects of quality of life and self-esteem on each other in chronic tic disorders. MATERIAL AND METHODS: Among 62 patients aged between 6 and 16 years who were diagnosed with chronic tic disorder according to the Diagnostic and Statistical Manual of Mental Disorders-IV, 57 patients who met the study inclusion criteria constituted the study group and 57 age- and gender-matched individuals constituted the control group (Ethics committee file number: 2009/69; ethics committee meeting number: 2009/14 (11.06.2009); ethics committee decision number: 16). The Rosenberg self-esteem scale, Pediatric Quality of Life Inventory, Children's Depression Inventory, Screen for Child Anxiety Related Disorders, Maudsley Obsessional Compulsive Inventory and the Schedule for Affective Disorders and Schizophrenia-Present and Lifetime version were applied to the children and adolescents. RESULTS: In the study group, all quality of life subtests were found to be lower compared to the control group both in children and adolescents except for self-reported emotional functionality and social functionality. Being below the age of 12 years and female gender were found to be predictors of low self-esteem in tic disorder. In the reports obtained from the children and adolescents, low self-esteem was related with decreased quality of life in all areas except for academic functionality. CONCLUSIONS: Children and adolescents with tic disorder experience functional disruption with a higher rate compared to the group without a psychiatric disorder or severe medical condition. Applying holistic approaches considering other clinical psychiatric symptoms as a part of chronic tic disorder will be useful in increasing the quality of life and self-esteem of these children.

[Sociodemographic/Clinical characteristics and risk factors associated with chronic tic disorders]. / Kronik Tik Bozukluklarinda Sosyodemografik, Klinik Özellikler ve Risk Etmenleri.

OBJECTIVE: This study aimed to investigate comorbidity, and sociodemographic and clinical characteristics in children and adolescents with Tourette's syndrome (TS) and chronic motor or vocal tic disorder (CMVTD), and to determine the predictors of tic disorders. MATERIALS AND METHODS: In all, 57 children and adolescents with TS and CMVTD were compared with a control group. Data were obtained using the Yale Global Tic Severity Scale (YGTSS), Turgay DSM-IV-Based Disruptive Behavioral Disorders Screening and Rating Scale (T-DSM-IV-S), Children's Depression Inventory (CDI), Screen for Child Anxiety-Related Disorders (SCARED), Maudsley Obsessive-Compulsive Inventory (MOCI), and Schedule for Affective Disorders and Schizophrenia for School Age Children-Present and Lifetime Version (K-SADS-PL). RESULTS: Mean age of the patients was 10.5 ± 2.4 years. In all, 56 (98.2%) of the patients had simple motor tics, 50 (87.7%) had complex motor tics, and 43 (75.4%) had vocal tics. Self-injurious behavior was observed in 24 (42.1%) patients. In total, 46 (80.7%) of the patients had ≥1 comorbid disorder. Among the observed comorbid disorders, attention deficit-hyperactivity disorder (ADHD) was the most common (observed in 40.4% of the patients), followed by obsessive-compulsive disorder (OCD) (19.3%). A higher-level of maternal education and absence of ADHD were associated with a reduction in the risk of a tic disorder. A family history of psychiatric disorder increased the risk of a tic disorder 5.61-fold, and nail biting increased the risk of a tic disorder 8.2-fold. Every 1-unit increase in CDI score increased the risk of a tic disorder by 12%. CONCLUSION: Chronic tic disorders (CTDs) are often accompanied by other psychiatric disorders. Both child- and family-related factors are associated with the risk of developing a tic disorder. Determination of both the protective and risk factors would be beneficial for improving the mental health of the general public.