1. Bakheet SA, Alzahrani MZ, Nadeem A, Ansari MA, Zoheir KM, Attia SM, Al-Ayadhi LY, Ahmad SF. {{Resveratrol treatment attenuates chemokine receptor expression in the BTBR T+tf/J mouse model of autism}}. {Mol Cell Neurosci};2016 (Sep 29)
Autism is a neurodevelopmental disorder categorized by qualitative impairments in social interaction, communication, and repetitive stereotypic behavior. Emerging evidence increasingly suggests that chemokine receptors have a pivotal role in the central nervous system and are involved in the pathogenesis of numerous neuroinflammatory diseases. Resveratrol is widely used to treat neurodegenerative diseases, but its effect on autism has not been investigated. We investigated the effect of resveratrol (20 and 40mg/kg) in the spleen and brain tissues of BTBR T+tf/J (BTBR) and C57BL/6J (B6) mice as well as on the C-C chemokine receptor (CCR) and C-X-C motif chemokine receptor (CXCR) (CCR3+, CCR5+, CCR7+ and CCR9+, CXCR3+ and CXCR5+) in cluster of differentiation 4-positive (CD4+) T cells in the spleen. We also assessed the mRNA expression of CCR and CXCR receptors in the spleen and brain tissues. Our study revealed that the BTBR and B6 control mice showed different immune profiles. The BTBR mice showed characteristic higher levels of both CCR and CXCR production and expression in CD4+ T cells than the B6 control mice did. Treatment of B6 and BTBR mice with resveratrol (20 and 40mg/kg) induced a substantial decrease in the CCR and CXCR production and expression in CD4+ T cells compared with the respective untreated control groups. Moreover, resveratrol treatment decreased the mRNA expression levels of CCR and CXCR in the spleen and brain tissues. Resveratrol downregulated the chemokine receptor levels, which might provide unique targets for future therapies for autism.
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2. Liu X, Han D, Somel M, Jiang X, Hu H, Guijarro P, Zhang N, Mitchell A, Halene T, Ely JJ, Sherwood CC, Hof PR, Qiu Z, Paabo S, Akbarian S, Khaitovich P. {{Disruption of an Evolutionarily Novel Synaptic Expression Pattern in Autism}}. {PLoS Biol};2016 (Sep);14(9):e1002558.
Cognitive defects in autism spectrum disorder (ASD) include socialization and communication: key behavioral capacities that separate humans from other species. Here, we analyze gene expression in the prefrontal cortex of 63 autism patients and control individuals, as well as 62 chimpanzees and macaques, from natal to adult age. We show that among all aberrant expression changes seen in ASD brains, a single aberrant expression pattern overrepresented in genes involved synaptic-related pathways is enriched in nucleotide variants linked to autism. Furthermore, only this pattern contains an excess of developmental expression features unique to humans, thus resulting in the disruption of human-specific developmental programs in autism. Several members of the early growth response (EGR) transcription factor family can be implicated in regulation of this aberrant developmental change. Our study draws a connection between the genetic risk architecture of autism and molecular features of cortical development unique to humans.
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3. Pini G, Bigoni S, Congiu L, Romanelli AM, Scusa MF, Di Marco P, Benincasa A, Morescalchi P, Ferlini A, Bianchi F, Tropea D, Zappella M. {{Rett syndrome: a wide clinical and autonomic picture}}. {Orphanet J Rare Dis};2016;11(1):132.
BACKGROUND: Rett Syndrome is a neurodevelopmental disorder almost exclusively affecting females, characterized by a broad clinical spectrum of signs and symptoms and a peculiar course. The disease affects different body systems: nervous, muscolo-skeletal, gastro-enteric. Moreover, part of the symptoms are related to the involvement of the autonomic nervous system. In the Tuscany Rett Center at Versilia Hospital, we collected data from 151 subjects with a clinical diagnosis of classical or variant RTT syndrome. For each subject, we assessed the severity of the condition with clinical-rating scales (ISS, PBZ), we quantified the performance of the autonomic nervous system, and we performed genetic analysis. We used multivariate statistical analysis of the data to evaluate the relation between the different clinical RTT forms, the cardiorespiratory phenotype, the different genetic mutations and the severity of the clinical picture. Individuals were classified according to existing forms: Classical RTT and three atypical RTT: Z-RTT, Hanefeld, Congenital. A correlation between C-Terminal deletions and lower severity of the clinical manifestations was evident, in the previous literature, but, considering the analysis of autonomic behaviour, the original classification can be enriched with a more accurate subdivision of Rett subgroups, which may be useful for early diagnosis. RESULTS: Present data emphasize some differences, not entirely described in the literature, among RTT variants. In our cohort the Z-RTT variant cases show clinical features (communication, growth, epilepsy and development), well documented by specific ISS items, less severe, if compared to classical RTT and show autonomic disorders, previously not reported in the literature. In this form epilepsy is rarely present. In contrast, Hanefeld variant shows the constant presence of epilepsy which has an earlier onset In Hanefeld variant the frequency of apneas was rare and, among the cardiorespiratory phenotypes, the feeble type is lacking. CONCLUSION: A quantitative analysis of the different autonomic components reveals differences across typical and atypical forms of RTT that leads to a more accurate classification of the groups. In our cohort of RTT individuals, the inclusion of autonomic parameter in the classification leads to an improved diagnosis at earlier stages of development.
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4. Tchanturia K, Larsson E, Adamson J. {{How anorexia nervosa patients with high and low autistic traits respond to group Cognitive Remediation Therapy}}. {BMC Psychiatry};2016;16(1):334.
BACKGROUND: The current study aimed to evaluate group Cognitive remediation therapy (CRT) inpatients with Anorexia Nervosa (AN). We aimed to examine the treatment response of group CRT in AN patients with high or low levels of autistic traits. METHODS: Thirty-five in patients with an AN diagnosis received group CRT intervention for 6 sessions in a national eating disorder unit. All participants completed self-report questionnaires on thinking styles and motivation before and after the intervention. RESULTS: Patients with low autistic traits had statistically significant medium size effect improvements in self-reported thinking style scales as well as confidence (ability) to change. Patients with high autistic traits showed no statistically significant improvements in any outcome measure. CONCLUSIONS: The brief group format CRT intervention improves self-reported cognitive and motivational aspects in people with AN without autistic traits. For patients with higher autistic traits brief group CRT does not improve self-reported cognitive style or motivation. This finding suggests that brief group format CRT might not be the best suited format for individuals with elevated autistic traits and individual or more tailored CRT should be explored.
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5. Zheng HF, Wang WQ, Li XM, Rauw G, Baker GB. {{Body fluid levels of neuroactive amino acids in autism spectrum disorders: a review of the literature}}. {Amino Acids};2016 (Sep 29)
A review of studies on the body fluid levels of neuroactive amino acids, including glutamate, glutamine, taurine, gamma-aminobutyric acid (GABA), glycine, tryptophan, D-serine, and others, in autism spectrum disorders (ASD) is given. The results reported in the literature are generally inconclusive and contradictory, but there has been considerable variation among the previous studies in terms of factors such as age, gender, number of subjects, intelligence quotient, and psychoactive medication being taken. Future studies should include simultaneous analyses of a large number of amino acids [including D-serine and branched-chain amino acids (BCAAs)] and standardization of the factors mentioned above. It may also be appropriate to use saliva sampling to detect amino acids in ASD patients in the future-this is noninvasive testing that can be done easily more frequently than other sampling, thus providing more dynamic monitoring.
