1. {{Fragile X syndrome}}. {Nat Rev Dis Primers}. 2017; 3: 17066.
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2. Donaldson PH, Kirkovski M, Rinehart NJ, Enticott PG. {{Autism-relevant traits interact with temporoparietal junction stimulation effects on social cognition: a high-definition transcranial direct current stimulation and electroencephalography study}}. {Eur J Neurosci}. 2017.
The temporoparietal junction (TPJ) is implicated in mental and emotional state attribution, processes associated with autism-relevant traits. Transcranial direct current stimulation (tDCS) to the TPJ can influence social-cognitive performance. However, associations with electrophysiology and autism-relevant traits remain relatively unexamined. This study had two aims: first, exploring links between Autism-Spectrum Quotient (AQ) scores and social-cognitive performance; second, examining interactions between AQ scores and high-definition-tDCS (HD-tDCS) applied to the right TPJ in terms of mental/emotional state attribution and neurophysiological outcomes. Fifty-three participants completed mental/emotional state attribution tasks before and after HD-tDCS. Pre-stimulation mental state attribution accuracy was reduced in participants with higher AQ Switching scores. Cathodal stimulation was associated with reduced emotion attribution performance in participants with higher AQ Switching and AQ Social scores (the latter at trend-level). Anodal stimulation more frequently interacted with AQ Social scores in terms of neurophysiology, in particular regarding reduced delta power in the left compared to right TPJ, and trend-level positive interactions with P100 and P300 latencies during the emotion recognition task. Elements of attention/switching (AQ Switching) may subserve or underpin elements of social cognition (AQ Social), and cathodal and anodal stimulation may have differing effects depending on trait levels in these domains. This study makes an important and original contribution in terms of increasing understanding of how such trait-level variation might interact with the effects of tDCS and also extending previous studies with regard to understanding potential roles of the rTPJ in both attention and social cognition and how autism-relevant traits might influence TPJ function.
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3. Fukai M, Hirosawa T, Kikuchi M, Ouchi Y, Takahashi T, Yoshimura Y, Miyagishi Y, Kosaka H, Yokokura M, Yoshikawa E, Bunai T, Minabe Y. {{Oxytocin effects on emotional response to others’ faces via serotonin system in autism: A pilot study}}. {Psychiatry Res}. 2017; 267: 45-50.
The oxytocin (OT)-related serotonergic system is thought to play an important role in the etiology and social symptoms of autism spectrum disorder (ASD). However, no evidence exists for the relation between the prosocial effect of chronic OT administration and the brain serotonergic system. Ten male subjects with ASD were administered OT for 8-10 weeks in an open-label, single-arm, non-randomized, uncontrolled manner. Before and during the OT treatment, positron emission tomography was used with the (11C)-3-amino-4-(2-[(demethylamino)methyl]phenylthio)benzonitrile(11C-DASB) radiotracer. Then binding of serotonin transporter (11C-DASB BPND) was estimated. The main outcome measures were changes in 11C-DASB BPND and changes in the emotional response to others’ faces. No significant change was found in the emotional response to others’ faces after the 8-10 week OT treatment. However, the increased serotonin transporter (SERT) level in the striatum after treatment was correlated significantly with increased negative emotional response to human faces. This study revealed a relation between changes in the serotonergic system and in prosociality after chronic OT administration. Additional studies must be conducted to verify the chronic OT effects on social behavior via the serotonergic system.
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4. Gardiner E, Iarocci G. {{Everyday executive function predicts adaptive and internalizing behavior among children with and without autism spectrum disorder}}. {Autism Res}. 2017.
Individuals with autism spectrum disorder (ASD) demonstrate challenges with executive function (EF), adaptive behavior, and mental health, all of which place long-term wellbeing at risk. In the current study we examined the relation between parent-rated EF and adaptive functioning and internalizing symptoms (anxiety, depression), as we expected that identifying the specific EF domains most closely related to these indices of functioning would illuminate opportunities for targeted intervention. Participants included 59 children and adolescents with ASD (M = 10.1 years) and 67 who were typically developing (TD) (M = 9.4 years) matched on age, IQ, mental age, and maternal education. Caregivers completed the Behavior Rating Inventory of EF (BRIEF) and Behavior Assessment System for Children, Second Edition (BASC-2). Parents rated children with ASD as demonstrating significantly more challenges across most of the examined BRIEF and BASC-2 indices and scales, with the exception of organization of materials (BRIEF) and anxiety (BASC-2). For both groups, metacognitive EF processes emerged as strongly associated with practical, conceptual, and social skills, though different BRIEF scales emerged as significant across the component subdomains. In terms of the relation with mental health, BRIEF index scores were unrelated to anxiety for both groups. Behavior regulation, however, was significantly associated with depression symptoms for children with and without ASD. The findings highlight the possibility that targeting particular EF domains among individuals with and without ASD may not only have direct benefit for behavior regulation and metacognitive abilities, but may also extend to other areas of life, including adaptive behavior and concomitant internalizing symptomatology. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: We examined whether parents’ ratings of their children’s flexibility and ability to monitor their behavior predicted adaptive skills (e.g., ability to complete day-to-day personal tasks, communicate, and socialize) and symptoms of anxiety and depression among children with and without autism spectrum disorder. For both groups, children’s abilities to manage and monitor their behavior were strongly related to adaptive skills. Children’s flexibility and ability to inhibit inappropriate behavior and control their emotions was associated with depression symptoms for both groups.
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5. Hagerman RJ, Berry-Kravis E, Hazlett HC, Bailey DB, Jr., Moine H, Kooy RF, Tassone F, Gantois I, Sonenberg N, Mandel JL, Hagerman PJ. {{Fragile X syndrome}}. {Nat Rev Dis Primers}. 2017; 3: 17065.
Fragile X syndrome (FXS) is the leading inherited form of intellectual disability and autism spectrum disorder, and patients can present with severe behavioural alterations, including hyperactivity, impulsivity and anxiety, in addition to poor language development and seizures. FXS is a trinucleotide repeat disorder, in which >200 repeats of the CGG motif in FMR1 leads to silencing of the gene and the consequent loss of its product, fragile X mental retardation 1 protein (FMRP). FMRP has a central role in gene expression and regulates the translation of potentially hundreds of mRNAs, many of which are involved in the development and maintenance of neuronal synaptic connections. Indeed, disturbances in neuroplasticity is a key finding in FXS animal models, and an imbalance in inhibitory and excitatory neuronal circuits is believed to underlie many of the clinical manifestations of this disorder. Our knowledge of the proteins that are regulated by FMRP is rapidly growing, and this has led to the identification of multiple targets for therapeutic intervention, some of which have already moved into clinical trials or clinical practice.
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6. Houghton R, Ong RC, Bolognani F. {{Psychiatric comorbidities and use of psychotropic medications in people with autism spectrum disorder in the United States}}. {Autism Res}. 2017.
This study investigated psychotropic medication usage in two large, cohorts of people with autism spectrum disorder (ASD) throughout the calendar year 2014. The cohorts referred to individuals with commercial (employer-sponsored) and Medicaid insurance in the United States. We aimed to understand prescribing patterns of such medications across a wide age-range and in the presence/absence of other clinical and non-clinical characteristics, including psychiatric comorbidities. We described the prevalence and length of prescriptions by age, psychiatric comorbidity and overall. We also fitted multivariable logistic regression models to describe the relationship between treatments and subject characteristics simultaneously. Eighty percent of the identified population was male, although gender did not impact the odds of receiving medication. Medication use was strongly associated with age, increasing most rapidly before adulthood; generally plateauing thereafter. All psychiatric comorbidities studied also individually increased the chances of medication use, with epilepsy and ADHD having the highest associations in both the commercial (OR > 7) and Medicaid (OR around 12) cohorts. Those in non-capitated insurance plans, in foster care and white individuals also had increased odds of prescriptions. Overall, slightly more Medicaid enrollees received any psychotropic treatment (commercial: 64%, Medicaid: 69%). Nonetheless in both cohorts, a large proportion of individuals received treatment even without a diagnosis of any other psychiatric comorbidity (commercial: 31%, Medicaid: 33%). In summary, this report sheds new light on the latest patterns of psychiatric comorbidity profile and psycho-pharmacological treatment patterns in ASD Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: this study identified a large number of children and adults in the US with autism spectrum disorder (autism) from employer-sponsored and government funded (Medicaid) health insurance data. Psychotropic medications were used by over two thirds of people, and four in ten people received two medications at the same time. The chances of receiving medication increased for individuals with other psychiatric conditions (e.g., ADHD), and also increased with age.
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7. Lebrun N, Parent P, Gendras J, Billuart P, Poirier K, Bienvenu T. {{Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant}}. {Clin Genet}. 2017.
Germline mosaicism for a novel missense variant p.Thr645Met located in the SNF2-related ATP dependent helicase domain of CHD2 in 2 affected siblings with autism spectrum disorder.
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8. Rozga A, Hesse E, Main M, Duschinsky R, Beckwith L, Sigman M. {{A short-term longitudinal study of correlates and sequelae of attachment security in autism}}. {Attach Hum Dev}. 2017: 1-21.
In this short-term longitudinal study, 30 preschool-aged children with autism were first observed in Ainsworth’s Strange Situation Procedure and, separately, interacting with the primary caregiver in the home. One year later, each child completed both a developmental assessment and an observational assessment of empathic responding. Behaviors typical for children with autism were distinguished from behaviors suggestive of relationally based attachment disorganization. Forty-five percent of the children were classified as securely attached. The secure group demonstrated language skills superior to those of the insecurely attached group, concurrently and during the follow-up. Compared to parents of children who were insecurely attached, parents of securely attached children were rated as more sensitive. Compared to both organized insecure and disorganized children, secure children were rated as more responsive to an examiner’s apparent distress during the follow-up relative to their ratings at intake, whereas empathy ratings of children with insecure classifications did not increase. Importantly, attachment security was associated with empathy above and beyond the contribution of children’s language level. These results indicate that the sequelae of attachment security in autism may be similar to those documented for typically developing children.
