1. Boon I, Vertongen K, Paelinck BP, Demulier L, Van Berendoncks A, De Maeyer C, Marchau F, Panzer J, Vandekerckhove K, De Wolf D. {{How to Size ASDs for Percutaneous Closure}}. {Pediatr Cardiol}. 2017.
Percutaneous closure is the treatment of choice for secundum-type atrial septal defects (ASD). Balloon sizing (BS) has been the method of choice for deciding on device size. Improved 2D- and 3D-transesophageal echocardiographic (TEE) imaging challenged the necessity of BS. Balloon sizing was performed with two additional techniques to measure the stretched dimension of the ASD. The 1st method uses a stiff guide wire which stretches the ASD and 2D TEE. The second technique uses 3D TEE. Two hundred and thirty-six patients with minimum 1-year follow-up were enrolled. The population was classified into three groups: BS (group 1) n = 90, 2D-TEE (group 2) n = 87, and 3D-TEE (group 3) n = 59. All groups showed a distinct correlation between the maximum baseline dimensions and the device size (R = 0.821). The relative expansion rate did not differ between BS and 3D-TEE. Group 2 (2D-TEE) showed a significantly lower expansion rate. Procedural success and complications did not differ statistically between the 3 groups. 2D TEE sizing was the simplest method without loss of accuracy. 3D sizing offers the advantage of accurate and fast shape assessment, but resulted in more undersizing. Accurate sizing of ASDs with a floppy septum remains a challenge.
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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. 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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4. Turner TN, Coe BP, Dickel DE, Hoekzema K, Nelson BJ, Zody MC, Kronenberg ZN, Hormozdiari F, Raja A, Pennacchio LA, Darnell RB, Eichler EE. {{Genomic Patterns of De Novo Mutation in Simplex Autism}}. {Cell}. 2017.
To further our understanding of the genetic etiology of autism, we generated and analyzed genome sequence data from 516 idiopathic autism families (2,064 individuals). This resource includes >59 million single-nucleotide variants (SNVs) and 9,212 private copy number variants (CNVs), of which 133,992 and 88 are de novo mutations (DNMs), respectively. We estimate a mutation rate of approximately 1.5 x 10-8 SNVs per site per generation with a significantly higher mutation rate in repetitive DNA. Comparing probands and unaffected siblings, we observe several DNM trends. Probands carry more gene-disruptive CNVs and SNVs, resulting in severe missense mutations and mapping to predicted fetal brain promoters and embryonic stem cell enhancers. These differences become more pronounced for autism genes (p = 1.8 x 10-3, OR = 2.2). Patients are more likely to carry multiple coding and noncoding DNMs in different genes, which are enriched for expression in striatal neurons (p = 3 x 10-3), suggesting a path forward for genetically characterizing more complex cases of autism.
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5. Tiura M, Kim J, Detmers D, Baldi H. {{Predictors of longitudinal ABA treatment outcomes for children with autism: A growth curve analysis}}. {Res Dev Disabil}. 2017; 70: 185-97.
BACKGROUND: Autism spectrum disorder (ASD) is a developmental disorder that causes lifelong disability. Applied Behavior Analysis (ABA) is one of the most empirically studied and validated approaches for treating children diagnosed with ASD. Due to the heterogeneity of ASD, it is important to ascertain who will most benefit from treatment. METHODS: In this study, 35 participants, with a mean entry age of 3 years, received ABA therapy. Children were assessed at intake and every 6 months thereafter using the Developmental Profile-3 (DP-3) to measure their communication, social-emotional, adaptive behavior, and physical development (2-6 measures per participant). Using a growth curve analysis, we investigated if age, diagnosis severity, cognitive functioning, treatment hours, gender, parent education level, or primary language spoken at home significantly predicted the growth trajectories of ABA treatment outcomes. RESULTS: Our findings indicated that higher cognitive functioning significantly predicted faster growth across all four developmental domains, age at entry predicted initial status, and other variables only predicted growth rates in one or two domains. IMPLICATIONS: Knowing the predictors of treatment outcome is important information for customizing treatment and this study demonstrated how longitudinal analyses can illuminate how participant characteristics affect the course of ABA therapy.
