1. Budd MA, Calli K, Samson L, Bowes J, Hsieh AYY, Forbes JC, Bitnun A, Singer J, Kakkar F, Alimenti A, Maan EJ, Lewis MES, Gentile C, Cote HCF, Brophy JC. {{Blood Mitochondrial DNA Content in HIV-Exposed Uninfected Children with Autism Spectrum Disorder}}. {Viruses}. 2018; 10(2).
Long-term outcomes of perinatal exposure to maternal antiretroviral therapy in HIV-exposed uninfected (HEU) children are unknown. However, both HIV antiretroviral therapy and autism spectrum disorder (ASD) have been associated with mitochondrial alterations. Leukocyte mitochondrial DNA (mtDNA) content can serve as a marker for mitochondrial dysfunction. In this cross-sectional, nested case-control study, HEU children with ASD were matched approximately 1:3 on age, sex, and ethnicity to HEU children without ASD, HIV-unexposed uninfected (HUU) controls, and HUU children with ASD. Leukocyte mtDNA content was measured using quantitative PCR. Among 299 HEU in this study, 14 (4.7%) were diagnosed with ASD, which is higher than the general population prevalence estimates. HEU children without ASD and HUU children with ASD had higher mtDNA content than HUU controls. HEU children with ASD had significantly higher mtDNA content than all other study groups. Our results suggest a clear association between elevated leukocyte mtDNA content and both HEU and ASD status. This may implicate mitochondrial dysfunction as a contributor to the high ASD prevalence observed in our cohort.
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2. Burke MM, Waitz-Kudla SN, Rabideau C, Taylor JL, Hodapp RM. {{Pulling back the curtain: Issues in conducting an intervention study with transition-aged youth with autism spectrum disorder and their families}}. {Autism}. 2018: 1362361317753016.
The transition from high school to adulthood is difficult for youth with autism spectrum disorder and their families. Recognizing these challenges, there is a small but emerging body of literature testing interventions to improve the transition process. But there are many challenges in performing intervention research that have yet to be fully addressed. We discuss issues that should be considered when conducting interventions with individuals with autism spectrum disorder to improve the transition to adulthood, drawing from our study of a parent training to facilitate access to adult services during the transition years. Issues covered include (1) timing (when is an intervention most effective?), (2) mode of delivery (what is the best way to present information?), (3) outcomes (how can intervention outcomes be accurately measured?), (4) target population (who is the intervention designed to help?), and (5) level of intervention (who should the intervention target?). Our answers, though preliminary, show the need to be flexible, to adopt a trial-and-error stance, and to listen to the needs-both explicit and implicit-of youth with autism spectrum disorder and their parents as they navigate the difficult transition from adolescence to adulthood.
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3. Catalano D, Holloway L, Mpofu E. {{Mental Health Interventions for Parent Carers of Children with Autistic Spectrum Disorder: Practice Guidelines from a Critical Interpretive Synthesis (CIS) Systematic Review}}. {Int J Environ Res Public Health}. 2018; 15(2).
Parent carers of children with Autism Spectrum Disorder (ASD) often report increased levels of stress, depression, and anxiety. Unmet parent carer mental health needs pose a significant risk to the psychological, physical, and social well-being of the parents of the child affected by ASD and jeopardize the adaptive functioning of the family as well as the potential of the child affected by ASD. This systematic review identifies key qualities of interventions supporting the mental health of parent carers and proposes practitioner-parent carer support guidelines. A search of four databases (Medline, PubMed, PsycINFO, and Social Science Data) was conducted to identify studies that met the following criteria: (1) an intervention was delivered to parent carers of a child with ASD under the age of 18 years; (2) the research design allowed for a comparison on outcomes across groups; and (3) outcome measures of the parent carers’ mental health were used. A total of 23 studies met the inclusion criteria. A critical interpretive synthesis approach was used to produce an integrated conceptualization of the evidence. Findings suggest practitioner guidelines to support the mental health and wellbeing of parent carers should include addressing the parent’s self-perspective taking and skill for real time problem-solving.
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4. Chabrol H, Raynal P. {{The co-occurrence of autistic traits and borderline personality disorder traits is associated to increased suicidal ideation in nonclinical young adults}}. {Comprehensive psychiatry}. 2018; 82: 141-3.
BACKGROUND: The co-occurrence of Autism Spectrum Disorder (ASD) and Borderline Personality Disorder (BPD) is not rare and has been linked to increased suicidality. Despite this significant comorbidity between ASD and BPD, no study had examined the co-occurrence of autistic traits and borderline personality disorder traits in the general population. The aim of the present study was to examine the co-occurrence of autistic and borderline traits in a non-clinical sample of young adults and its influence on the levels of suicidal ideation and depressive symptomatology. PROCEDURES: Participants were 474 college students who completed self-report questionnaires. Data were analysed using correlation and cluster analyses. MAIN FINDINGS: Borderline personality traits and autistic traits were weakly correlated. However, cluster analysis yielded four groups: a low traits group, a borderline traits group, an autistic traits group, and a group characterized by high levels of both traits. Cluster analysis revealed that autistic and borderline traits can co-occur in a significant proportion of young adults. The high autistic and borderline traits group constituted 17% of the total sample and had higher level of suicidal ideation than the borderline traits group, despite similar levels of depressive symptoms. CONCLUSION: This result suggests that the higher suicidality observed in patients with comorbid ASD and BPD may extent to non-clinical individuals with high levels of co-occurrent autistic and borderline traits.
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5. Chan KKS, Lam CB, Law NCW, Cheung RYM. {{From child autistic symptoms to parental affective symptoms: A family process model}}. {Res Dev Disabil}. 2018; 75: 22-31.
BACKGROUND: Depression and anxiety are prevalent among parents of children with autism spectrum disorder (ASD), but limited research has investigated why parenting a child with ASD is associated with elevated distress and increased risks of mental health problems. We responded to this gap in the literature by examining the associations between child autistic symptoms and parental affective symptoms, as well as the potential underlying mechanisms. Guided by a family process theory, we hypothesized that child autistic symptoms would be positively associated with parental depressive and anxiety symptoms, and that these associations would be mediated by parents’ concerns about their children’s characteristics (future-related worry), parental roles (parenting stress), marital relationships (marital conflicts), and family conditions (family economic pressure). METHODS: Cross-sectional questionnaire data were collected from 375 parents of children with ASD residing in Hong Kong, China. The hypotheses were tested using structural equation modeling. RESULTS: Child autistic symptoms were positively associated with parental depressive and anxiety symptoms. These associations were mediated by future-related worry, parenting stress, marital conflicts, and family economic pressure. CONCLUSIONS: Our findings revealed the potential pathways through which child autism symptomatology may adversely affect parental mental health. Our findings also highlighted the importance of designing multipronged intervention programs for families raising children with ASD in order to improve relevant family processes and reduce parental affective symptoms.
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6. Choi J, Lee S, Won J, Jin Y, Hong Y, Hur TY, Kim JH, Lee SR, Hong Y. {{Pathophysiological and neurobehavioral characteristics of a propionic acid-mediated autism-like rat model}}. {PLoS One}. 2018; 13(2): e0192925.
Autism spectrum disorder (ASD) is induced by complex hereditary and environmental factors. However, the mechanisms of ASD development are poorly understood. The purpose of this study was to identify standard indicators of this condition by comparing clinical, pathophysiological, and neurobehavioral features in an autism-like animal model. A total of 22 male Sprague-Dawley rats were randomly divided into control and 500 mg/kg propionic acid (PPA)-treated groups. Rats were subjected to behavioral tests, gene expression analyses, and histological analyses to detect pathophysiological and neurobehavioral alterations. Exploratory activity and non-aggressive behavior were significantly reduced in PPA-treated rats, whereas enhanced aggressive behavior during adjacent interactions was observed on day 14 after PPA administration. To evaluate gene expression after PPA administration, we analyzed hippocampal tissue using reverse transcription PCR. Glial fibrillary acidic protein was augmented in the PPA-treated group on day 14 after appearance of ASD-like behaviors by PPA administration, whereas octamer-binding transcription factor 4 expression was significantly decreased in the PPA-treated group. Histological evaluation revealed significantly reduced diameter and layer thickness of granule cells in PPA-treated rats compared with control rats. We conclude that PPA administration induced abnormal neural cell organization, which may have led to autism-like neurobehaviors, including increased aggressive behavior, reduced exploratory activity, and isolative and passive behaviors.
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7. Dando CJ, Ormerod TC, Cooper P, Marchant R, Mattison M, Milne R, Bull R. {{No Evidence Against Sketch Reinstatement of Context, Verbal Labels or the Use of Registered Intermediaries for Children with Autism Spectrum Disorder: Response to Henry et al. (2017)}}. {J Autism Dev Disord}. 2018.
Recently, Henry et al. (J Autism Dev Disord 8:2348-2362, 2017) found no evidence for the use of Verbal Labels, Sketch Reinstatement of Context and Registered Intermediaries by forensic practitioners when interviewing children with a diagnosis of autism spectrum disorder. We consider their claims, noting the limited ecological validity of the experimental paradigm, the impacts of repeated interviewing where retrieval support is not provided at first retrieval, question the interviewer/intermediary training and their population relevant experience, and comment on the suppression of population variances. We submit that rejecting these techniques on the basis of this study is completely unwarranted and potentially damaging, particularly if used in legal proceedings to undermine the value of testimony from children with ASD, who continually struggle to gain access to justice.
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8. Gima H, Kihara H, Watanabe H, Nakano H, Nakano J, Konishi Y, Nakamura T, Taga G. {{Early motor signs of autism spectrum disorder in spontaneous position and movement of the head}}. {Experimental brain research}. 2018.
We examined the characteristics of spontaneous movements at 9-20 weeks postterm age in very low birth-weight infants who later developed autism spectrum disorder (ASD). We analyzed video recordings of spontaneous movements of 39 children who had no clinical issues [typically developing (TD) group], 21 children who showed developmental delay, and 14 children who were diagnosed with ASD (ASD group) at 6 years of age. Head position in each video frame was classified by visual inspection. The percentage of midline head position (PMHP) and number of changes in head position were calculated. Spontaneous limb movements were quantified using six indices. The values of PMHP were significantly lower in the ASD group than in the TD group. The lower PMHP during early infancy is associated with later development of ASD. Poorer performance in maintaining midline position of the head at this period may distinguish infants who later develop ASD from those who show TD.
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9. Guisso DR, Saadeh FS, Saab D, El Deek J, Chamseddine S, Abou-El-Hassan H, Majari G, Boustany RM. {{Correction to: Association of Autism with Maternal Infections, Perinatal and Other Risk Factors: A Case-Control Study}}. {J Autism Dev Disord}. 2018.
The original version of this article unfortunately contained a mistake. The family name of Hadi Abou El Hassan was incorrect. The correct name is Hadi Abou-El-Hassan.
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10. Herman C, Healy O, Lydon S. {{An interview-informed synthesized contingency analysis to inform the treatment of challenging behavior in a young child with autism}}. {Dev Neurorehabil}. 2018; 21(3): 202-7.
PURPOSE: Experimental Functional analysis (EFA) is considered the « gold standard » of behavioural assessment and its use is predictive of treatment success. However, EFA has a number of limitations including its lengthy nature, the high level of expertise required, and the reinforcement of challenging behaviour. This study aimed to further validate a novel interview-informed synthesised contingency analysis (IISCA). METHODS: An open-ended interview and brief direct observation informed an IISCA for a young boy with autism who engaged in challenging behaviour. Resulting data supported the hypothesis that the target behaviour was multiply controlled by escape from demands and access to tangible items. An intervention comprised of most-to-least prompting, escape extinction, differential reinforcement and a high-probability instruction sequence was evaluated using a reversal design. RESULTS: This intervention reduced challenging behaviour to low levels and resulted in increased compliance. CONCLUSIONS: Findings support the status of the IISCA as a valid, practical, and effective process for designing function-based interventions.
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11. Hutson RL, Thompson RL, Bantel AP, Tessier CR. {{Acamprosate rescues neuronal defects in the Drosophila model of Fragile X Syndrome}}. {Life sciences}. 2018; 195: 65-70.
AIMS: Several off-label studies have shown that acamprosate can provide some clinical benefits in youth with Fragile X Syndrome (FXS), an autism spectrum disorder caused by loss of function of the highly conserved FMR1 gene. This study investigated the ability of acamprosate to rescue cellular, molecular and behavioral defects in the Drosophila model of FXS. MAIN METHODS: A high (100muM) and low (10muM) dose of acamprosate was fed to Drosophila FXS (dfmr1 null) or genetic control (w(1118)) larvae and then analyzed in multiple paradigms. A larval crawling assay was used to monitor aberrant FXS behavior, overgrowth of the neuromuscular junction (NMJ) was quantified to assess neuronal development, and quantitative RT-PCR was used to evaluate expression of deregulated cbp53E mRNA. KEY FINDINGS: Acamprosate treatment partially or completely rescued all of the FXS phenotypes analyzed, according to dose. High doses rescued cellular overgrowth and dysregulated cbp53E mRNA expression, but aberrant crawling behavior was not affected. Low doses of acamprosate, however, did not affect synapse number at the NMJ, but could rescue NMJ overgrowth, locomotor defects, and cbp53E mRNA expression. This dual nature of acamprosate suggests multiple molecular mechanisms may be involved in acamprosate function depending on the dosage used. SIGNIFICANCE: Acamprosate may be a useful therapy for FXS and potentially other autism spectrum disorders. However, understanding the molecular mechanisms involved with different doses of this drug will likely be necessary to obtain optimal results.
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12. Ishii A, Ihara H, Ogata H, Sayama M, Gito M, Murakami N, Ayabe T, Oto Y, Takahashi A, Nagai T. {{Autistic, Aberrant, and Food-Related Behaviors in Adolescents and Young Adults with Prader-Willi Syndrome: The Effects of Age and Genotype}}. {Behavioural neurology}. 2017; 2017: 4615451.
The effects of age and genotype were examined, with regard to the severity of aberrant, autistic, and food-related behaviors in Prader-Willi syndrome (PWS), with an emphasis on the contrast between adolescents and young adults. The Aberrant Behavior Checklist Japanese version (ABC-J), the Food Related Problem Questionnaire (FRPQ), and the Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS) were administered to 65 PWS patients, including 20 adolescents (ages 12 to 17) and 45 young adults (ages 18 to 29). Significant differences (Mann-Whitney U tests) were found in ABC-J (p = 0.004) and PARS (p = 0.021), with lower scores in adolescents than in young adults. While DEL subgroups showed no significant differences between the two age groups in ABC-J (p = 0.063) and PARS (p = 0.134), mUPD subgroups showed a statistically significant difference in terms of ABC-J (p = 0.007). No significant differences were found between adolescents and young adults, in terms of FRPQ (p = 0.163). These results suggest that aberrant and autistic behaviors follow a marked worsening trend from around the age of 18. On the other hand, food-related behaviors give no sign of change at this transitory stage. Young adults with mUPD were found to be significantly more severe than adolescents with mUPD, in terms of aberrant behaviors.
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13. Kamat PP, Karaga MK, Wisniewski BL, McCracken CE, Simon HK, Sidhu R, Grunwell JR. {{Outpatient Procedural Sedation of Patients With Autism Spectrum Disorders for Magnetic Resonance Imaging of the Brain Using Propofol}}. {Journal of child neurology}. 2018: 883073817753908.
OBJECTIVE: To quantify the number of personnel, time to induce and complete sedation using propofol for outpatient magnetic resonance imaging (MRI) of the brain, and the frequency of serious adverse events (SAEs) in children with autism spectrum disorder (ASD) compared with children without ASD. RESULTS: Baseline characteristics were the same between both groups. Overall sedation success was 99%. Although most children were sedated with /=4 providers (P = .005). The duration of sedation was less for the ASD group compared with the non-ASD group (49 minutes vs 56 minutes, P = .005). There was no difference in SAE frequency between groups (ASD 14% vs non-ASD 16%, P = .57). CONCLUSION: Children with ASD can be sedated for brain MRI using propofol with no increased frequency of SAEs compared with children without ASD. Sedation teams should anticipate that 10% of children with ASD may need additional personnel before propofol induction.
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14. Karalunas SL, Hawkey E, Gustafsson H, Miller M, Langhorst M, Cordova M, Fair D, Nigg JT. {{Overlapping and Distinct Cognitive Impairments in Attention-Deficit/Hyperactivity and Autism Spectrum Disorder without Intellectual Disability}}. {Journal of abnormal child psychology}. 2018.
Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are commonly comorbid, share genetic liability, and often exhibit overlapping cognitive impairments. Clarification of shared and distinct cognitive effects while considering comorbid symptoms across disorders has been lacking. In the current study, children ages 7-15 years assigned to three diagnostic groups:ADHD (n = 509), ASD (n = 97), and controls (n = 301) completed measures spanning the cognitive domains of attention/arousal, working memory, set-shifting, inhibition, and response variability. Specific processes contributing to response variability were examined using a drift diffusion model, which separately quantified drift rate (i.e., efficiency of information processing), boundary separation (i.e., speed-accuracy trade-offs), and non-decision time. Children with ADHD and ASD were impaired on attention/arousal, processing speed, working memory, and response inhibition, but did not differ from controls on measures of delayed reward discounting, set-shifting, or interference control. Overall, impairments in the ASD group were not attributable to ADHD symptoms using either continuous symptom measures or latent categorical grouping approaches. Similarly, impairments in the ADHD group were not attributable to ASD symptoms. When specific RT parameters were considered, children with ADHD and ASD shared impairments in drift rate. However, children with ASD were uniquely characterized by a wider boundary separation. Findings suggest a combination of overlapping and unique patterns of cognitive impairment for children with ASD as compared to those with ADHD, particularly when the processes underlying reaction time measures are considered separately.
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15. Kaya C, Hanley-Maxwell C, Chan F, Tansey T. {{Differential vocational rehabilitation service patterns and outcomes for transition-age youth with autism}}. {J Appl Res Intellect Disabil}. 2018.
BACKGROUND: It is important to investigate receipt of vocational rehabilitation (VR) services, service patterns and outcomes for youth with autism, so that limited public resources can be used more efficiently. METHOD: This study used chi-squared automatic interaction detector, and multivariate logistic regression analysis to investigate relationships between demographic variables, receipt of VR services and employment outcomes for transition-age youth (TAY) with Autism. RESULTS: The results indicate that gender, education level and cash benefits are significant predictors of employment outcomes. After controlling for the effect of demographic variables, several VR services (i.e., job placement, on-the-job support, on-the-job training, maintenance, other services, information referral, and diagnostic and treatment services) were significantly associated with competitive employment. CONCLUSIONS: Overall, the results indicate that job-related services were significantly related to employment outcomes for TAY with Autism; therefore, it is important these youths are provided with more targeted job placements and supported employment services (Wehman et al., ).
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16. Li G, Lee O, Rabitz H. {{High efficiency classification of children with autism spectrum disorder}}. {PLoS One}. 2018; 13(2): e0192867.
Autism spectrum disorder (ASD) is a wide-ranging collection of developmental diseases with varying symptoms and degrees of disability. Currently, ASD is diagnosed mainly with psychometric tools, often unable to provide an early and reliable diagnosis. Recently, biochemical methods are being explored as a means to meet the latter need. For example, an increased predisposition to ASD has been associated with abnormalities of metabolites in folate-dependent one carbon metabolism (FOCM) and transsulfuration (TS). Multiple metabolites in the FOCM/TS pathways have been measured, and statistical analysis tools employed to identify certain metabolites that are closely related to ASD. The prime difficulty in such biochemical studies comes from (i) inefficient determination of which metabolites are most important and (ii) understanding how these metabolites are collectively related to ASD. This paper presents a new method based on scores produced in Support Vector Machine (SVM) modeling combined with High Dimensional Model Representation (HDMR) sensitivity analysis. The new method effectively and efficiently identifies the key causative metabolites in FOCM/TS pathways, ranks their importance, and discovers their independent and correlative action patterns upon ASD. Such information is valuable not only for providing a foundation for a pathological interpretation but also for potentially providing an early, reliable diagnosis ideally leading to a subsequent comprehensive treatment of ASD. With only tens of SVM model runs, the new method can identify the combinations of the most important metabolites in the FOCM/TS pathways that lead to ASD. Previous efforts to find these metabolites required hundreds of thousands of model runs with the same data.
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17. Liu XS, Wu H, Krzisch M, Wu X, Graef J, Muffat J, Hnisz D, Li CH, Yuan B, Xu C, Li Y, Vershkov D, Cacace A, Young RA, Jaenisch R. {{Rescue of Fragile X Syndrome Neurons by DNA Methylation Editing of the FMR1 Gene}}. {Cell}. 2018; 172(5): 979-92.e6.
Fragile X syndrome (FXS), the most common genetic form of intellectual disability in males, is caused by silencing of the FMR1 gene associated with hypermethylation of the CGG expansion mutation in the 5′ UTR of FMR1 in FXS patients. Here, we applied recently developed DNA methylation editing tools to reverse this hypermethylation event. Targeted demethylation of the CGG expansion by dCas9-Tet1/single guide RNA (sgRNA) switched the heterochromatin status of the upstream FMR1 promoter to an active chromatin state, restoring a persistent expression of FMR1 in FXS iPSCs. Neurons derived from methylation-edited FXS iPSCs rescued the electrophysiological abnormalities and restored a wild-type phenotype upon the mutant neurons. FMR1 expression in edited neurons was maintained in vivo after engrafting into the mouse brain. Finally, demethylation of the CGG repeats in post-mitotic FXS neurons also reactivated FMR1. Our data establish that demethylation of the CGG expansion is sufficient for FMR1 reactivation, suggesting potential therapeutic strategies for FXS.
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18. McKinney C, Gadke DL, Malkin ML. {{Autism Spectrum Disorder Traits in Typically Developing Emerging Adults and Associated Parenting: A Person-Centered Approach}}. {Journal of American college health : J of ACH}. 2018: 0.
Research on parenting children with autism spectrum disorder (ASD) indicates these children receive parenting tailored to their condition. However, little is known about ASD in adulthood, especially in emerging adults at college, and how they are parented. The current study examined how emerging adults in a non-clinical typically-developing sample differed in their current perceptions of parenting as a function of ASD traits. Participants completed questionnaires about their current perceptions of parenting and self-reported ASD traits. Parenting characteristics assessed included parenting style, discipline, parent-child relationship quality, and parental distress. Results indicated that higher levels of self-reported ASD traits were associated with increasingly ineffective parenting characteristics including lower authoritative style, harsher discipline, poorer parent-child relationship quality (e.g., lower involvement), and higher parental distress. Researchers are encouraged to extend ASD research into adulthood by validating diagnostic methods with adults and investigating processes in adulthood that have been well-established in the childhood ASD literature.
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19. Nelson S, McDuffie A, Banasik A, Tempero Feigles R, Thurman AJ, Abbeduto L. {{Inferential language use by school-aged boys with fragile X syndrome: Effects of a parent-implemented spoken language intervention}}. {J Commun Disord}. 2018; 72: 64-76.
This study examined the impact of a distance-delivered parent-implemented narrative language intervention on the use of inferential language during shared storytelling by school-aged boys with fragile X syndrome, an inherited neurodevelopmental disorder. Nineteen school-aged boys with FXS and their biological mothers participated. Dyads were randomly assigned to an intervention or a treatment-as-usual comparison group. Transcripts from all pre- and post-intervention sessions were coded for child use of prompted and spontaneous inferential language coded into various categories. Children in the intervention group used more utterances that contained inferential language than the comparison group at post-intervention. Furthermore, children in the intervention group used more prompted inferential language than the comparison group at post-intervention, but there were no differences between the groups in their spontaneous use of inferential language. Additionally, children in the intervention group demonstrated increases from pre- to post-intervention in their use of most categories of inferential language. This study provides initial support for the utility of a parent-implemented language intervention for increasing the use of inferential language by school aged boys with FXS, but also suggests the need for additional treatment to encourage spontaneous use.
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20. Nguyen AT, Mattiassi S, Loeblein M, Chin E, Ma D, Coquet P, Viasnoff V, Teo EHT, Goh EL, Yim E. {{Human Rett-derived neuronal progenitor cells in 3D graphene scaffold as an in vitro platform to study the effect of electrical stimulation on neuronal differentiation}}. {Biomedical materials (Bristol, England)}. 2018.
Studies of electrical stimulation therapies for the treatment of neurological disorders, such as deep brain stimulation, have almost exclusively been performed using animal-models. However, because animal-models can only approximate human brain disorders, these studies should be supplemented with an in vitro human cell-culture based model to substantiate the results of animal-based studies and further investigate therapeutic benefit in humans. This study presents a novel approach to analyse the effect of electrical stimulation on the neurogenesis of patient-induced pluripotent stem cell (iPSC) derived neural progenitor cell (NPC) lines, in vitro using a 3D graphene scaffold system. The iPSC-derived hNPCs used to demonstrate the system were collected from patients with Rett syndrome, a debilitating neurodevelopmental disorder. The graphene scaffold readily supported both the wild-type and Rett NPCs. Electrical stimulation parameters were optimized to accommodate both wild-type and Rett cells. Increased cell maturation and improvements in cell morphology of the Rett cells was observed after electrical stimulation. The results of the pilot study of electrical stimulation to enhance Rett NPCs neurogenesis were promising and support further investigation of the therapy. Overall, this system provides a valuable tool to study electrical stimulation as a potential therapy for neurological disorders using patient-specific cells.
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21. Parikh C, Kurzius-Spencer M, Mastergeorge AM, Pettygrove S. {{Characterizing Health Disparities in the Age of Autism Diagnosis in a Study of 8-Year-Old Children}}. {J Autism Dev Disord}. 2018.
The diagnosis of autism spectrum disorder (ASD) is often delayed from the time of noted concerns to the actual diagnosis. The current study used child- and family-level factors to identify homogeneous classes in a surveillance-based sample (n = 2303) of 8-year-old children with ASD. Using latent class analysis, a 5-class model emerged and the class memberships were examined in relation to the child’s median age at ASD diagnosis. Class 3, with known language delays and a high advantage socioeconomically had the lowest age of ASD diagnosis (46.74 months) in comparison to Classes 1 (64.99 months), 4 (58.14 months), and 5 (69.78 months) in this sample. Findings demonstrate sociodemographic and developmental disparities related to the age at ASD diagnosis.
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22. Paynter J, Sulek R, Luskin-Saxby S, Trembath D, Keen D. {{Allied Health Professionals’ Knowledge and Use of ASD Intervention Practices}}. {J Autism Dev Disord}. 2018.
Allied health professionals (AHPs) are trusted sources of information and intervention for clients with autism spectrum disorder. However, the level of implementation of empirically-supported therapies and the accuracy of the knowledge they use to inform intervention selection is largely unknown. The present study explored the accuracy of AHPs’ knowledge and use of practices, and explored links to individual attitudes and organisational culture. Overall results from the 156 AHPs surveyed suggested general accuracy of knowledge, and use of empirically supported treatments, with accuracy linked to use. Use of practices unsupported by research was linked to organisational culture and openness to new interventions. The presence of misinformation and the impact on selection and use of effective practices are discussed.
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23. Philippat C, Barkoski J, Tancredi DJ, Elms B, Barr DB, Ozonoff S, Bennett DH, Hertz-Picciotto I. {{Prenatal exposure to organophosphate pesticides and risk of autism spectrum disorders and other non-typical development at 3 years in a high-risk cohort}}. {International journal of hygiene and environmental health}. 2018.
INTRODUCTION: Organophosphates are widely used pesticides that have been shown to affect child neurodevelopment. Previous studies that explored their potential effects on Autism Spectrum Disorder (ASD) relied either on proxies of external exposure or on questionnaires completed by the parents to identify autism-like behaviors but did not provide a clinical diagnosis of ASD. AIMS: We studied the associations between prenatal biologic markers for exposure to organophosphate pesticides and the risk of having a child with ASD or other developmental concerns (ODC). METHOD: We analyzed 203 mother-child pairs of the ongoing MARBLES (Markers of Autism Risk in Babies – Learning Early Signs) mother-child cohort, which enrolls mothers who are either pregnant or planning a pregnancy and whose expected child has an elevated risk to develop ASD. Seven metabolites of organophosphate pesticides were assessed in repeated urine samples collected during pregnancy. At 36 months, children were assessed with intruments measuring cognitive function and adaptive behaviors, and with two gold-standard diagnostic instruments for ASD: the Autism Diagnostic Observation Schedule and the Autism Diagnostic Interview-Revised. Children were classified in one of the following groups: ASD (n=46), ODC (n=55) and typically developing (TD, n=102). RESULTS: After adjustment for potential confounders, organophosphate metabolite concentrations were not associated with an increased risk of ASD or ODC when boys and girls were studied together. After stratification by sex, dimethylthiophosphate (DMTP) pregnancy concentration tended to be associated with an increased ASD risk among girls (OR for a doubling in the DMTP concentration: 1.64 (95%CI, 0.95; 2.82)) but not among boys (OR: 0.84, 95%CI: 0.63; 1.11). DISCUSSION: This is the first study of clinically confirmed diagnoses of ASD that utilized repeated measurements of organophosphate metabolites during pregnancy to explore the associations between these pesticides and ASD risk in children. The association we observed among girls, as well as the lack of association in boys, need to be replicated in further studies with similar design and larger sample size. In light of the higher baseline risk for ASD in this cohort, generalizability to children lacking a first degree relative affected by ASD is unknown.
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24. Schieve LA, Tian L, Dowling N, Croen L, Hoover-Fong J, Alexander A, Shapira SK. {{Associations Between the 2nd to 4th Digit Ratio and Autism Spectrum Disorder in Population-Based Samples of Boys and Girls: Findings from the Study to Explore Early Development}}. {J Autism Dev Disord}. 2018.
The ratio of the index (2nd) finger to ring (4th) finger lengths (2D:4D) is a proxy for fetal testosterone and estradiol. Studies suggesting 2D:4D is inversely associated with autism spectrum disorder (ASD) in males were limited by lack of confounder and subgroup assessments. Studies of females are sparse. We examined associations between ASD and 2D:4D among children in the Study to Explore Early Development; we considered case subgroups and numerous potential demographic and maternal-perinatal health confounders. We observed a modest inverse association between ASD and right-hand 2D:4D in males; subgroup analyses indicated associations were limited to ASD cases with birth defects/genetic syndromes or dysmorphic features. We observed a positive association between ASD and left-hand 2D:4D in females, overall and within most case subgroups.
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25. Sinha S, Levi D, Peirone A, Pedra C. {{Techniques for trans-catheter retrieval of embolized Nit-Occlud((R)) PDA-R and ASD-R devices}}. {Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & Interventions}. 2018; 91(3): 478-84.
BACKGROUND: Nit-Occlud((R)) (atrial septal defect) ASD-R and (patent ductus arteriosus) PDA-R devices are used outside the United States for percutaneous closure of the patent ductus arteriosus and atrial septal defects. When embolization occurs, these devices have been difficult to retrieve. METHODS: Bench simulations of retrieval of PDA-R and ASD-R devices were performed in a vascular model. Retrieval of each device was attempted using snare techniques or with bioptome forceps with a range of devices. The same devices were then intentionally embolized in an animal model. Retrieval methods were systematically tested in a range of sheath sizes, and graded in terms of difficulty and retrieval time. RESULTS: Devices that were grasped by the bioptome in the center of the proximal part of the devices were easily retrieved in both models. Bench studies determined the minimum sheath sizes needed for retrieval of each device with this method. In general sheathes two french sizes greater than the delivery sheath were successful with this technique. Three out of the four PDA-R devices were successfully retrieved in vivo. Two were retrieved by grasping the middle of the PA end of the PDA-R device with a Maslanka bioptome and one small PDA-R device was retrieved using a 10 mm Snare. Four of the five ASD-R devices were retrieved successfully grasping the right atrial ASD-R disc or by passing a wire through the device and snaring this loop. For ASD-R 28 and 30 mm devices, a double bioptome technique was needed to retrieve the device. CONCLUSION: ASD-R and PDA-R devices can be successfully retrieved in the catheterization lab. It is critical to grab the center portion of the right atrial disc of the ASD-R device or pulmonary portion of the PDA-R device and to use adequately sized sheathes.
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26. Tonnsen BL, Richards JE, Roberts JE. {{Heart rate-defined sustained attention in infants at risk for autism}}. {J Neurodev Disord}. 2018; 10(1): 7.
BACKGROUND: Although aberrant visual attention has been identified in infants at high familial risk for autism, the developmental emergence of atypical attention remains unclear. Integrating biological measures of attention into prospective high-risk infant studies may inform more nuanced developmental trajectories, clarifying the onset and course of atypical attention and potentially advancing early screening or treatment protocols. Heart rate-defined sustained attention (HRDSA) is a well-validated biological measure of attentional engagement that, in non-clinical infant populations, provides incremental information about attentional engagement beyond looking behaviors alone. The present study aimed to examine the characteristics and clinical correlates of HRDSA in high-risk infants, informing whether HRDSA may operate as a promising biological measure of attention and clinical symptoms in this population. METHODS: We examined age-related patterns of HRDSA during a passive looking task in 5- to 14-month-old high-risk infant siblings of children with autism (n = 21) compared to low-risk controls (n = 21), with most participants contributing multiple assessments. Emergent autism features were measured using the Autism Diagnostic Observation Schedule at 24 months. Primary dependent variables included the proportion of time in behavioral attention, proportion of time in HRDSA, and average heart rate deceleration during HRDSA. For each variable, we used nested multilevel models to examine whether attention differed by group, as well as whether attention predicted emergent autism features among high-risk infant siblings. RESULTS: As expected, HRDSA served as a global biological measure of attention in high-risk infants, predicting greater variability in group risk status than behavioral looking alone. Among high-risk infants, more severe ASD features were also associated with increasingly shallow heart rate deceleration during HRDSA across development, suggesting abnormal qualities of HRDSA may inform individual differences within this population. CONCLUSIONS: These preliminary findings provide initial evidence that HRDSA may offer a sensitive, affordable, and portable biological measure of attention that may enhance understanding of atypical attention in high-risk infants. Using this method, we also provide initial evidence that atypical patterns of heart activity previously reported in children and adults with autism may emerge in the first year of life, warranting further study of how HRDSA may specifically inform attention profiles in ASD.
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27. Tryfon A, Foster NEV, Sharda M, Hyde KL. {{Speech perception in autism spectrum disorder: An activation likelihood estimation meta-analysis}}. {Behav Brain Res}. 2018; 338: 118-27.
Autism spectrum disorder (ASD) is often characterized by atypical language profiles and auditory and speech processing. These can contribute to aberrant language and social communication skills in ASD. The study of the neural basis of speech perception in ASD can serve as a potential neurobiological marker of ASD early on, but mixed results across studies renders it difficult to find a reliable neural characterization of speech processing in ASD. To this aim, the present study examined the functional neural basis of speech perception in ASD versus typical development (TD) using an activation likelihood estimation (ALE) meta-analysis of 18 qualifying studies. The present study included separate analyses for TD and ASD, which allowed us to examine patterns of within-group brain activation as well as both common and distinct patterns of brain activation across the ASD and TD groups. Overall, ASD and TD showed mostly common brain activation of speech processing in bilateral superior temporal gyrus (STG) and left inferior frontal gyrus (IFG). However, the results revealed trends for some distinct activation in the TD group showing additional activation in higher-order brain areas including left superior frontal gyrus (SFG), left medial frontal gyrus (MFG), and right IFG. These results provide a more reliable neural characterization of speech processing in ASD relative to previous single neuroimaging studies and motivate future work to investigate how these brain signatures relate to behavioral measures of speech processing in ASD.
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28. Walls M, Broder-Fingert S, Feinberg E, Drainoni ML, Bair-Merritt M. {{Prevention and Management of Obesity in Children with Autism Spectrum Disorder Among Primary Care Pediatricians}}. {J Autism Dev Disord}. 2018.
Children with autism spectrum disorder (ASD) are at high risk for being overweight and obese. Little is known about how obesity in children with ASD is being addressed in primary care. This article reports findings from a survey completed by 327 general pediatricians, which included a fictional clinical vignette and Likert-scales assessing attitudes, practices, self-efficacy, and barriers to obesity management. Although the majority of respondents agreed pediatricians should be the main providers to manage obesity in children with ASD, few reported receiving adequate training to do so. Pediatricians were more likely to refer to developmental-behavioral pediatricians and dietitians for a child with ASD compared to a child without ASD. Higher self-efficacy was associated with increased weight-related counseling frequency by pediatricians.
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29. Wigham S, Rodgers J, Berney T, Le Couteur A, Ingham B, Parr JR. {{Psychometric properties of questionnaires and diagnostic measures for autism spectrum disorders in adults: A systematic review}}. {Autism}. 2018: 1362361317748245.
Accurately diagnosing autism spectrum disorders in adulthood can be challenging. Structured questionnaires and diagnostic measures are frequently used to assist case recognition and diagnosis. This study reviewed research evidence on structured questionnaires and diagnostic measures published since the National Institute for Health and Care Excellence evidence update. The Cochrane library, Medline, Embase and PsycINFO were searched. In all, 20 studies met inclusion criteria. Sensitivity and specificity of structured questionnaires were best for individuals with previously confirmed autism spectrum disorder diagnoses and reduced in participants referred for diagnostic assessments, with discrimination of autism spectrum disorder from mental health conditions especially limited. For adults with intellectual disability, diagnostic accuracy increased when a combination of structured questionnaires were used. Evidence suggests some utility of diagnostic measures in identifying autism spectrum disorder among clinic referrals, although specificity for diagnosis was relatively low. In mental health settings, the use of a single structured questionnaire is unlikely to accurately identify adults without autism spectrum disorder or differentiate autism spectrum disorder from mental health conditions. This is important as adults seeking an autism spectrum disorder diagnostic assessment are likely to have co-existing mental health conditions. Robust autism spectrum disorder assessment tools specifically for use in adult diagnostic health services in the presence of co-occurring mental health and neurodevelopmental disorders are a research priority.
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30. Zaidman-Zait A, Mirenda P, Szatmari P, Duku E, Smith IM, Vaillancourt T, Volden J, Waddell C, Bennett T, Zwaigenbaum L, Elsabaggh M, Georgiades S, Ungar WJ. {{Correction to: Profiles of Social and Coping Resources in Families of Children with Autism Spectrum Disorder: Relations to Parent and Child Outcomes}}. {J Autism Dev Disord}. 2018.
The original version of this article unfortunately contained a mistake.
