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.

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.

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.