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.

Pregnancy and delivery complications and treatment approach in attention deficit hyperactivity disorder.

Pregnancy, delivery complications and treatment approach were evaluated in 153 cases diagnosed with attention deficit hyperactivity disorder in the State Hospital of Antalya in the Child and Adolescent Psychiatry Polyclinic. Most of the cases had been delivered vaginally (74.5%). The most frequent delivery complication was asphyxia/hypoxia (15.6%). The agent most frequently preferred in the treatment regimen was methylphenidate (82.4%), which is a psychostimulant. The other drugs used were risperidone (29.4%), selective serotonin reuptake inhibitors (16.4%) and imipramine (4.6%). The most frequent side effect resulting from methylphenidate use was a decrease in appetite (34.9%). Attention deficit hyperactivity disorder often presents with comorbid disorders; in these cases, nonstimulant agents had to be added to methylphenidate for better treatment outcomes. Use of selective serotonin reuptake inhibitors in combined treatment and in cases with comorbidities is in agreement with the literature. Further studies of combined treatment regimens in attention deficit hyperactivity disorder are needed.

Lipoid proteinosis: A case with ophthalmological and psychiatric findings.

Lipoid proteinosis (LP) is an uncommon, recessively inherited disorder. The disease usually has its onset in the newborn period and is manifested by hoarseness. The skin and mucous membrane involvement arises between the first and second year of age. A 14-year-old male presented with the complaint of blistering on various sites of his skin, from the age of 12 months, resulting in scarring. Ophthalmological and psychiatric findings also appeared during the clinical course. The histological findings of skin biopsy included extensive deposits of amorphous eosinophilic material in the papillary dermis. No known therapy exists for LP.

Double-blind, placebo-controlled study of zinc sulfate in the treatment of attention deficit hyperactivity disorder.

BACKGROUND: The most commonly used medications for attention deficit hyperactivity disorder (ADHD) are the psychostimulants. There is, however, considerable awareness in alternative, nonstimulant therapies, because some patients respond poorly to stimulants or are unable to tolerate them. Some studies suggest that deficiency of zinc play a substantial role in the aetiopathogenesis of ADHD. Therefore, to assess the efficacy of zinc sulfate we conducted treatment trial. METHODS: Patients with a primary DSM-IV diagnosis of ADHD (N=400; 72 girls, 328 boys, mean age=9.61+/-1.7) were randomly assigned in a 1:1 ratio to 12 weeks of double-blind treatment with zinc sulfate (n=202) (150 mg/day) or placebo (n=198). Efficacy was assessed with the Attention Deficit Hyperactivity Disorder Scale (ADHDS), Conners Teacher Questionnaire, and DuPaul Parent Ratings of ADHD. Primary efficacy variables were differences from baseline to endpoint (last observation carried forward) in mean ADHDS and Conners Teacher Questionnaire scores between the zinc sulfate and the placebo groups. Safety evaluations included monitoring of adverse events, vital signs and clinical laboratory values. RESULTS: Zinc sulfate was statistically superior to placebo in reducing both hyperactive, impulsive and impaired socialization symptoms, but not in reducing attention deficiency symptoms, as assessed by ADHDS. However, full therapeutic response rates of the zinc and placebo groups remained 28.7% and 20%, respectively. It was determined that the hyperactivity, impulsivity and socialization scores displayed significant decrease in patients of older age and high BMI score with low zinc and free fatty acids (FFA) levels. Zinc sulfate was well tolerated and associated with a low rate of side effect. CONCLUSIONS: Zinc monotherapy was significantly superior to placebo in reducing symptoms of hyperactivity, impulsivity and impaired socialization in patients with ADHD. Although by themselves, these findings may not be sufficient, it may well be considered that zinc treatment appears to be an efficacious treatment for ADHD patients having older age and high BMI score with low zinc and FFA levels.

Reversible nocturnal enuresis in children receiving SSRI with or without risperidone: presentation of five cases.

Selective serotonin re-uptake inhibitors are indicated in a group of psychiatric disor ders childhood. Data about their use in the treatment of enuresis also exist. Voiding disorders related to their use have been reported. We present five patients in whom bed-wetting was observed during a treatment with a serotonin re-uptake inhibitor with or without risperidone, drawing attention to a possible side effect of this group of drugs.

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.