1. {{Fragile X syndrome}}. {Nat Rev Dis Primers}. 2017; 3: 17066.
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2. 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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3. 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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4. Kumazaki H, Warren Z, Corbett BA, Yoshikawa Y, Matsumoto Y, Higashida H, Yuhi T, Ikeda T, Ishiguro H, Kikuchi M. {{Android Robot-Mediated Mock Job Interview Sessions for Young Adults with Autism Spectrum Disorder: A Pilot Study}}. {Front Psychiatry}. 2017; 8: 169.
The feasibility and preliminary efficacy of an android robot-mediated mock job interview training in terms of both bolstering self-confidence and reducing biological levels of stress in comparison to a psycho-educational approach human interview was assessed in a randomized study. Young adults (ages 18-25 years) with autism spectrum disorder (ASD) were randomized to participate either in a mock job interview training with our android robot system (n = 7) or a self-paced review of materials about job-interviewing skills (n = 8). Baseline and outcome measurements of self-reported performance/efficacy and salivary cortisol were obtained after a mock job interview with a human interviewer. After training sessions, individuals with ASD participating in the android robot-mediated sessions reported marginally improved self-confidence and demonstrated significantly lower levels of salivary cortisol as compared to the control condition. These results provide preliminary support for the feasibility and efficacy of android robot-mediated learning.
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5. Li J, Chen J. {{Comment on « Maternal SSRI exposure increases the risk of autistic offspring: A meta-analysis and systematic review »}}. {Eur Psychiatry}. 2017; 45: 220.
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6. Locke J, Wolk CB, Harker C, Olsen A, Shingledecker T, Barg F, Mandell D, Beidas R. {{Pebbles, rocks, and boulders: The implementation of a school-based social engagement intervention for children with autism}}. {Autism}. 2017; 21(8): 985-94.
Few evidence-based practices, defined as the use of empirically supported research and clinical expertise for children with autism, have been successfully implemented and sustained in schools. This study examined the perspectives of school personnel ( n = 39) on implementing a social engagement intervention for children with autism. Semi-structured interviews, informed by the Domitrovich et al. (2008) framework, were conducted. Participants were asked about (1) school factors that affect the general implementation of evidence-based practices, (2) their specific experiences implementing the social engagement intervention, and (3) barriers to and facilitators of implementing the social engagement intervention. Data were analyzed using an integrated approach. General (e.g. implementation process, leadership, support, and staff) and intervention-specific (e.g. staff, barriers, and facilitators) implementation themes were identified. These findings suggest that a variety of factors should be considered when implementing evidence-based practices in schools and that implementing social engagement interventions for children with autism may require additional specific support for implementation.
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7. Man L, Lekovich J, Rosenwaks Z, Gerhardt J. {{Fragile X-Associated Diminished Ovarian Reserve and Primary Ovarian Insufficiency from Molecular Mechanisms to Clinical Manifestations}}. {Front Mol Neurosci}. 2017; 10: 290.
Fragile X syndrome (FXS), is caused by a loss-of-function mutation in the FMR1 gene located on the X-chromosome, which leads to the most common cause of inherited intellectual disability in males and the leading single-gene defect associated with autism. A full mutation (FM) is represented by more than 200 CGG repeats within the FMR1 gene, resulting in FXS. A FM is inherited from women carrying a FM or a premutation (PM; 55-200 CGG repeats) allele. PM is associated with phenotypes distinct from those associated with FM. Some manifestations of the PM are unique; fragile-X-associated tremor/ataxia syndrome (FXTAS), and fragile-X-associated primary ovarian insufficiency (FXPOI), while others tend to be non-specific such as intellectual disability. In addition, women carrying a PM may suffer from subfertility or infertility. There is a need to elucidate whether the impairment of ovarian function found in PM carriers arises during the primordial germ cell (PGC) development stage, or due to a rapidly diminishing oocyte pool throughout life or even both. Due to the possibility of expansion into a FM in the next generation, and other ramifications, carrying a PM can have an enormous impact on one’s life; therefore, preconception counseling for couples carrying the PM is of paramount importance. In this review, we will elaborate on the clinical manifestations in female PM carriers and propose the definition of fragile-X-associated diminished ovarian reserve (FXDOR), then we will review recent scientific findings regarding possible mechanisms leading to FXDOR and FXPOI. Lastly, we will discuss counseling, preventative measures and interventions available for women carrying a PM regarding different aspects of their reproductive life, fertility treatment, pregnancy, prenatal testing, contraception and fertility preservation options.
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8. McClain MB, Hasty Mills AM, Murphy LE. {{Inattention and hyperactivity/impulsivity among children with attention-deficit/hyperactivity-disorder, autism spectrum disorder, and intellectual disability}}. {Res Dev Disabil}. 2017; 70: 175-84.
BACKGROUND: Attention-Deficit/Hyperactivity Disorder (ADHD), Autism Spectrum Disorder (ASD), and Intellectual Disability (ID) are common co-occurring neurodevelopmental disorders; however, limited research exists regarding the presentation and severity of overlapping symptomology, particularly inattention and hyperactivity/impulsivity, when a child is diagnosed with one of more of these neurodevelopmental disorders. AIMS: As difficulties with inattention and hyperactivity/impulsivity are symptoms frequently associated with these disorders, the current study aims to determine the differences in the severity of inattention and hyperactivity/impulsivity in children diagnosed with ADHD, ASD, ID, and co-occurring diagnosis of ADHD/ID, ASD/ADHD, and ASD/ID. METHODS AND PROCEDURES: Participants in the current study included 113 children between the ages of 6 and 11 who were diagnosed with ADHD, ASD, ID, ADHD/ID, ASD/ADHD, or ASD/ID. Two MANOVA analyses were used to compare these groups witih respsect to symptom (i.e., inattention, hyperactivity/impulsivity) severity. OUTCOMES AND RESULTS: Results indicated that the majority of diagnostic groups experienced elevated levels of both inattention and hyperactivity/impulsivity. However, results yielded differences in inattention and hyperactivity/impulsivity severity. In addition, differences in measure sensitivity across behavioral instruments was found. CONCLUSIONS AND IMPLICATIONS: Children with neurodevelopmental disorders often exhibit inattention and hyperactivity/impulsivity, particularly those with ADHD, ASD, ASD/ADHD, and ADHD/ID; therefore, differential diagnosis may be complicated due to similarities in ADHD symptom severity. However, intellectual abilities may be an important consideration for practitioners in the differential diagnosis process as children with ID and ASD/ID exhibited significantly less inattention and hyperactive/impulsive behaviors. Additionally, the use of multiple behavior rating measures in conjunction with other assessment procedures may help practitioners determine the most appropriate diagnosis.
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9. McCue LM, Flick LH, Twyman KA, Xian H. {{Gastrointestinal dysfunctions as a risk factor for sleep disorders in children with idiopathic autism spectrum disorder: A retrospective cohort study}}. {Autism}. 2017; 21(8): 1010-20.
Sleep disorders often co-occur with autism spectrum disorder. They further exacerbate autism spectrum disorder symptoms and interfere with children’s and parental quality of life. This study examines whether gastrointestinal dysfunctions increase the odds of having sleep disorders in 610 children with idiopathic autism spectrum disorder, aged 2-18 years, from the Autism Genetic Resource Exchange research program. The adjusted odds ratio for sleep disorder among those with gastrointestinal dysfunctions compared to those without was 1.74 (95% confidence interval: 1.22-2.48). In addition, the odds of having multiple sleep disorder symptoms among children with gastrointestinal dysfunctions, adjusted for age, gender, behavioral problems, bed wetting, current and past supplements, and current and past medications for autism spectrum disorder symptoms were 1.75 (95% confidence interval: 1.10-2.79) compared to children without gastrointestinal dysfunctions. Early detection and treatment of gastrointestinal dysfunctions in autism spectrum disorder may be means to reduce prevalence and severity of sleep problems and improve quality of life and developmental outcomes in this population.
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10. McDuffie A, Banasik A, Bullard L, Nelson S, Feigles RT, Hagerman R, Abbeduto L. {{Distance delivery of a spoken language intervention for school-aged and adolescent boys with fragile X syndrome}}. {Dev Neurorehabil}. 2017: 1-16.
A small randomized group design (N = 20) was used to examine a parent-implemented intervention designed to improve the spoken language skills of school-aged and adolescent boys with FXS, the leading cause of inherited intellectual disability. The intervention was implemented by speech-language pathologists who used distance video-teleconferencing to deliver the intervention. The intervention taught mothers to use a set of language facilitation strategies while interacting with their children in the context of shared story-telling. Treatment group mothers significantly improved their use of the targeted intervention strategies. Children in the treatment group increased the duration of engagement in the shared story-telling activity as well as use of utterances that maintained the topic of the story. Children also showed increases in lexical diversity, but not in grammatical complexity.
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11. Robertson CE, Baron-Cohen S. {{Sensory perception in autism}}. {Nat Rev Neurosci}. 2017.
Autism is a complex neurodevelopmental condition, and little is known about its neurobiology. Much of autism research has focused on the social, communication and cognitive difficulties associated with the condition. However, the recent revision of the diagnostic criteria for autism has brought another key domain of autistic experience into focus: sensory processing. Here, we review the properties of sensory processing in autism and discuss recent computational and neurobiological insights arising from attention to these behaviours. We argue that sensory traits have important implications for the development of animal and computational models of the condition. Finally, we consider how difficulties in sensory processing may relate to the other domains of behaviour that characterize autism.
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12. 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.
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13. Silbaugh BC, Falcomata TS, Ferguson RH. {{Effects of a lag schedule of reinforcement with progressive time delay on topographical mand variability in children with autism}}. {Dev Neurorehabil}. 2017: 1-12.
OBJECTIVE: Evaluate the effects of a Lag 1 schedule of reinforcement and progressive time delay (TD) on topographical mand variability in children with autism. METHODS: Using single-subject design methodology, a multiple baseline across behaviors with embedded reversal design was employed. During Lag 0, reinforcement was delivered contingent on any independent instances of manding. During Lag 1 + TD, prompts were faded and reinforcement was delivered contingent on independent or prompted variant mand topographies. RESULTS: Higher levels of topographical mand variability were observed during Lag 1 + TD for both participants. CONCLUSIONS: A Lag 1 schedule of reinforcement with progressive TD increased variability across functionally equivalent vocal mand topographies for both participants. This finding extends prior literature by providing a novel model for studying reinforced mand variability in children, and by demonstrating how practitioners could use prompts and differential reinforcement to increase topographical mand variability in children with autism.
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14. Szkop KJ, Cooke PIC, Humphries JA, Kalna V, Moss DS, Schuster EF, Nobeli I. {{Dysregulation of Alternative Poly-adenylation as a Potential Player in Autism Spectrum Disorder}}. {Front Mol Neurosci}. 2017; 10: 279.
We present here the hypothesis that alternative poly-adenylation (APA) is dysregulated in the brains of individuals affected by Autism Spectrum Disorder (ASD), due to disruptions in the calcium signaling networks. APA, the process of selecting different poly-adenylation sites on the same gene, yielding transcripts with different-length 3′ untranslated regions (UTRs), has been documented in different tissues, stages of development and pathologic conditions. Differential use of poly-adenylation sites has been shown to regulate the function, stability, localization and translation efficiency of target RNAs. However, the role of APA remains rather unexplored in neurodevelopmental conditions. In the human brain, where transcripts have the longest 3′ UTRs and are thus likely to be under more complex post-transcriptional regulation, erratic APA could be particularly detrimental. In the context of ASD, a condition that affects individuals in markedly different ways and whose symptoms exhibit a spectrum of severity, APA dysregulation could be amplified or dampened depending on the individual and the extent of the effect on specific genes would likely vary with genetic and environmental factors. If this hypothesis is correct, dysregulated APA events might be responsible for certain aspects of the phenotypes associated with ASD. Evidence supporting our hypothesis is derived from standard RNA-seq transcriptomic data but we suggest that future experiments should focus on techniques that probe the actual poly-adenylation site (3′ sequencing). To address issues arising from the use of post-mortem tissue and low numbers of heterogeneous samples affected by confounding factors (such as the age, gender and health of the individuals), carefully controlled in vitro systems will be required to model the effect of calcium signaling dysregulation in the ASD brain.
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15. Thomas AM, Schwartz MD, Saxe MD, Kilduff TS. {{Sleep/wake physiology and quantitative EEG analysis of the Neuroligin-3 knockout rat model of autism spectrum disorder}}. {Sleep}. 2017.
Study Objectives: Neuroligin-3 (NLGN3) is one of many genes associated with autism spectrum disorder (ASD). Sleep dysfunction is highly prevalent in ASD, but has not been rigorously examined in ASD models. Here, we evaluated sleep/wake physiology and behavioral phenotypes of rats with genetic ablation of Nlgn3. Methods: Male Nlgn3 knockout (KO) and wild-type (WT) rats were assessed using a test battery for ASD-related behaviors and also implanted with telemeters to record the electroencephalogram (EEG), electromyogram (EMG), body temperature, and locomotor activity. 24-h EEG recordings were analyzed for sleep/wake states and spectral composition. Results: Nlgn3 KO rats were hyperactive, exhibited excessive chewing behavior, and had impaired prepulse inhibition (PPI) to an auditory startle stimulus. KO rats also spent less time in NREM sleep, more time in REM sleep, exhibited elevated theta power (4-9 Hz) during wakefulness and REM, and elevated delta power (0.5-4 Hz) during NREM. Beta (12-30 Hz) and gamma (30-50 Hz) power was suppressed across all vigilance states. Conclusions: The sleep disruptions in Nlgn3 KO rats are consistent with observations of sleep disturbances in ASD patients. The EEG provides objective measures of brain function to complement rodent behavioral analyses and therefore may be a useful tool to study ASD.
