Peripheral Expression of ADORA2A Is Increased and Is Correlated with Autism Spectrum Disorder Severity in a Sample of Turkish Children.

Background: The aim of this study was to evaluate the peripheral expression of ADORA2A (Adenosine A2A receptor gene) in young subjects with autism spectrum disorder compared with healthy controls and its relationship with clinical characteristics. Method: This study included 93 children and adolescents with a diagnosis of autism spectrum disorder as the study group and 105 healthy age- and gender-matched controls. Blood samples were obtained from all participants, and a real-time quantitative polymerase chain reaction was performed. Parent- and clinician-rated assessment instruments were used to assess and rate the severity of autism spectrum disorder and other emotional/behavioral problems. Results: The mean age of the study group was 9.06 ± 3.57 and 86% were male (n = 83), whereas the mean age of the control group was 9.22 ± 3.86 and 86.7% were male (n = 91). We have found a higher level of peripheral expression of ADORA2A in children and adolescents with autism spectrum disorder compared with healthy controls (fold change = 1.33, P = .001). We also found a weak negative correlation with autism spectrum disorder severity (r = -0.216; P = .038) and stereotyped behaviors (r = -0.207, P = .046). Conclusion: ADORA2A genes may have a role in the pathophysiology of autism spectrum disorder. Further studies are needed to evaluate whether peripheral expression of ADORA2A genes may be among the biomarkers for diagnosing or measuring the severity of autism spectrum disorder.

Lifetime depressive and current social anxiety are associated with problematic internet use in adolescents with ADHD: a cross-sectional study.

AIM: To evaluate the relationships between problematic internet use (PIU) and psychiatric comorbid disorders and internet use habits in a clinical sample of adolescents with attention-deficit/hyperactivity disorder (ADHD). METHOD: This cross-sectional study included 95 adolescents with ADHD. Problematic behaviors and symptoms related to internet use were evaluated via Young's Internet Addiction Scale (YIAS), and subjects with a YIAS score of ≥50 were categorized as PIU while those with a score of <50 were defined as normal internet use (NIU). The two groups were compared with respect to demographics and psychometric tests. While psychiatric disorders were examined by a semistructured instrument, self-report and parent-report scales were used to assess other individual and clinical characteristics of participants. RESULTS: 33.7% (n = 32) of the participants were determined to have PIU. There was no gender (p = .058) or age (p = .426) difference between the PIU and NIU groups. Current presence of social phobia (p = .035) and history of major depressive disorder (p = .006) were more frequent in the PIU group than the NIU group. Multivariable regression analysis revealed that PIU was independently associated with online gaming (OR: 2.375, 95% CI: 1.532-3.681), e-mail use (OR: 1.864, 95% CI: 1.170-2.971), social networking (OR: 1.834, 95% CI: 1.156-2.910), and Social Phobia Scale for Children and Adolescents (SPSCA) score (OR: 1.058, 95% CI: 1.020-1.098). CONCLUSION: PIU may be common among adolescents with ADHD. The severity of social phobia and particular online activities (playing online games, e-mailing, social networking) may be associated with a higher risk of PIU in adolescents with ADHD.

Peripheral Expression of MACROD2 Gene Is Reduced Among a Sample of Turkish Children with Autism Spectrum Disorder.

Background: Genomic variations in mono-ADP ribosylhydrolase 2 (MACROD2) have been associated with autism spectrum disorder (ASD) in recent genome-wide studies and case reports. In this study, we aimed to evaluate the MACROD2 expression profile in patients with ASD. Methods: The study group included 100 children with a DSM-5 diagnosis of ASD, and the control group consisted of 105 healthy controls. Blood samples were obtained from all participants in this study, and the gene expression level was determined using quantitative reverse transcription PCR (RT-qPCR). Statistical analysis was performed with R 3.4.0 and Statistical Program for Social Sciences (SPSS for Windows, 21.0). Results: The mean ages of the participants in the study and control groups were 9.22 ± 3.62 and 9.27 ± 3.86 years, respectively. There was no significant difference concerning gender (P = .944) and age (P = .914) between the 2 groups. MACROD2 gene expression was found to be decreased in the study group compared to the control group (study group = 5.73, control group = 89.56; fold change =-3.967; P < .001). While the level of MACROD2 expression was not correlated with the ASD severity, it was associated with the severity of the hyperactivity/impulsivity symptoms (P = .008). Conclusions: This is the first study in the literature investigating the peripheral expression of the MACROD2 gene. We showed that the expression level of MACROD2 was decreased in patients with ASD when compared to the control group. As the relationship between the MACROD2 gene expression profile and ASD remains to be further investigated, this study may provide an insight for further studies.

Erythropoietin shows gender dependent positive effects on social deficits, learning/memory impairments, neuronal loss and neuroinflammation in the lipopolysaccharide induced rat model of autism.

We aimed to evaluate the effects of EPO in the lipopolysaccharide (LPS) induced rat model of autism in terms of social deficits, learning and memory impairments, as well as their neurochemical correlates. Sixteen female Sprague Dawley rats randomly distributed into two equel groups, then were caged with fertile males for mating. At the 10th day of pregnancy, 0.5 ml %0,9 NaCl saline was given to first group, 100 µg/kg LPS was given to second group to induce autism. On postnatal 21th day, forty-eight littermates were divided into four groups as; 8 male, 8 female controls, 16 male and 16 female LPS-exposed. Then, LPS groups were also divided in to two groups as saline (1 mg/kg/day) and EPO 600 U/kg/day groups, and animals were treated 45 days. At 50th day, after behavioral evaluations, brain levels of TNF-α, nerve growth factor (NGF) were measured. Histologically, hippocampal neuronal density and GFAP expression were assessed. Three-chamber sociability and social novelty test, passive avoidance learning test were revealed significant differences among the EPO and control groups. Histologically, hippocampal CA1 & CA3 regions displayed significant alterations regarding gliosis (GFAP-positive cells) and regarding frontal cortical thickness in EPO groups compare to controls. Biochemical measurements of the brain levels of TNF-α and NGF levels showed significant differences between controls and EPO groups. According to our findings EPO treatment has beneficial effects on ASD-like symptoms, learning and memory processes, neuronal loss and neuroinflammation in the LPS induced rat model of autism, with some gender differences through inflammatory and neurotrophic pathways.

Internet Use Habits, Parental Control and Psychiatric Comorbidity in Young Subjects with Asperger Syndrome.

We aimed to investigate the characteristics of internet use in a clinical sample of 60 young subjects with Asperger Syndrome (AS) and its relationship with parental control and psychiatric comorbidity. Of the participants, 38.3% were classified as having problematic internet use (PIU). Subjects with normal internet use (NIU), compared to the subjects with PIU, had significantly higher scores on parental control scale. While there was no significant difference in terms of any comorbid diagnoses between subjects with NIU versus PIU, severity of depressive symptoms was found to predict higher scores on Young Internet Addiction Scale (YIAS). In conclusion, PIU may be common in AS and may be associated with internalizing problems, while parental control may protect against it.

Non-convulsive status epilepticus in two patients with tuberous sclerosis.

Tuberous sclerosis (TSC) is an autosomal dominantly inherited genetic disorder that chiefly affects the central nervous system, along with the other multiple systems. While phenomenology and symptom severity may vary greatly from one individual to another, the most common neurological presentation is epilepsy, which may be refractory in a considerable number of patients. Convulsive SE is seen frequently in TSC patients due to the high ratio of refractory seizures in well-studied cohorts. Status epilepticus (SE) is a life-threating condition and requires urgent medical care. Non-convulsive status epilepticus (NCSE) is an epileptic state with no convulsive seizures but impaired consciousness and corresponding electrophysiological findings. Due to its heterogeneity of clinical features, it is generally hard to recognize, and thus difficult to treat promptly. The relationship between TSC and NCSE is a relatively less emphasized issue in the literature. Here, we present two cases of TSC with NCSE with a view to increasing clinicians' awareness of the association between refractory epilepsy and NCSE.