1. Akbas B, Akca OF. {{Treatment of a Child with Autism Spectrum Disorder and Food Refusal Due to Restricted and Repetitive Behaviors}}. {J Child Adolesc Psychopharmacol}. 2018.
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2. Baron-Cohen S, Klin A, Silberman S, Buxbaum JD. {{Did Hans Asperger actively assist the Nazi euthanasia program?}}. {Mol Autism}. 2018; 9: 28.
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3. Bertero A, Liska A, Pagani M, Parolisi R, Masferrer ME, Gritti M, Pedrazzoli M, Galbusera A, Sarica A, Cerasa A, Buffelli M, Tonini R, Buffo A, Gross C, Pasqualetti M, Gozzi A. {{Autism-associated 16p11.2 microdeletion impairs prefrontal functional connectivity in mouse and human}}. {Brain}. 2018.
Human genetic studies are rapidly identifying variants that increase risk for neurodevelopmental disorders. However, it remains unclear how specific mutations impact brain function and contribute to neuropsychiatric risk. Chromosome 16p11.2 deletion is one of the most common copy number variations in autism and related neurodevelopmental disorders. Using resting state functional MRI data from the Simons Variation in Individuals Project (VIP) database, we show that 16p11.2 deletion carriers exhibit impaired prefrontal connectivity, resulting in weaker long-range functional coupling with temporal-parietal regions. These functional changes are associated with socio-cognitive impairments. We also document that a mouse with the same genetic deficiency exhibits similarly diminished prefrontal connectivity, together with thalamo-prefrontal miswiring and reduced long-range functional synchronization. These results reveal a mechanistic link between specific genetic risk for neurodevelopmental disorders and long-range functional coupling, and suggest that deletion in 16p11.2 may lead to impaired socio-cognitive function via dysregulation of prefrontal connectivity.
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4. Chang LV. {{Information, education, and health behaviors: Evidence from the MMR vaccine autism controversy}}. {Health economics}. 2018.
In the wake of strong, although later refuted, claims of a link between autism and the measles-mumps-rubella (MMR) vaccine, I examine whether fewer parents immunized or delayed vaccinations for their children and if there was a differential response by mother’s education level. Using various controls and a differencing strategy that compares in MMR take-up with other vaccines, I find that the MMR-autism controversy led to a decline in the immediate years and that there were negative spillovers onto other vaccines. I also find evidence that more highly educated mothers responded more strongly to the controversy either by not immunizing their children altogether or, to a lesser degree, delaying vaccination. Moreover, the educational gap was greater in states where there was greater media attention devoted to the controversy. This is consistent with the health allocative efficiency hypothesis whereby part of the education gradient in health outcomes is due to more-educated individuals absorbing and responding to health information more quickly. However, unlike in the United Kingdom, where previous studies find that the gap was eliminated after the link was refuted, the evidence for the United States suggests that the educational gap persisted.
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5. Czech H. {{Hans Asperger, National Socialism, and « race hygiene » in Nazi-era Vienna}}. {Mol Autism}. 2018; 9: 29.
Background: Hans Asperger (1906-1980) first designated a group of children with distinct psychological characteristics as ‘autistic psychopaths’ in 1938, several years before Leo Kanner’s famous 1943 paper on autism. In 1944, Asperger published a comprehensive study on the topic (submitted to Vienna University in 1942 as his postdoctoral thesis), which would only find international acknowledgement in the 1980s. From then on, the eponym ‘Asperger’s syndrome’ increasingly gained currency in recognition of his outstanding contribution to the conceptualization of the condition. At the time, the fact that Asperger had spent pivotal years of his career in Nazi Vienna caused some controversy regarding his potential ties to National Socialism and its race hygiene policies. Documentary evidence was scarce, however, and over time a narrative of Asperger as an active opponent of National Socialism took hold. The main goal of this paper is to re-evaluate this narrative, which is based to a large extent on statements made by Asperger himself and on a small segment of his published work. Methods: Drawing on a vast array of contemporary publications and previously unexplored archival documents (including Asperger’s personnel files and the clinical assessments he wrote on his patients), this paper offers a critical examination of Asperger’s life, politics, and career before and during the Nazi period in Austria. Results: Asperger managed to accommodate himself to the Nazi regime and was rewarded for his affirmations of loyalty with career opportunities. He joined several organizations affiliated with the NSDAP (although not the Nazi party itself), publicly legitimized race hygiene policies including forced sterilizations and, on several occasions, actively cooperated with the child ‘euthanasia’ program. The language he employed to diagnose his patients was often remarkably harsh (even in comparison with assessments written by the staff at Vienna’s notorious Spiegelgrund ‘euthanasia’ institution), belying the notion that he tried to protect the children under his care by embellishing their diagnoses. Conclusion: The narrative of Asperger as a principled opponent of National Socialism and a courageous defender of his patients against Nazi ‘euthanasia’ and other race hygiene measures does not hold up in the face of the historical evidence. What emerges is a much more problematic role played by this pioneer of autism research. Future use of the eponym should reflect the troubling context of its origins in Nazi-era Vienna.
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6. Drozd M, Bardoni B, Capovilla M. {{Modeling Fragile X Syndrome in Drosophila}}. {Front Mol Neurosci}. 2018; 11: 124.
Intellectual disability (ID) and autism are hallmarks of Fragile X Syndrome (FXS), a hereditary neurodevelopmental disorder. The gene responsible for FXS is Fragile X Mental Retardation gene 1 (FMR1) encoding the Fragile X Mental Retardation Protein (FMRP), an RNA-binding protein involved in RNA metabolism and modulating the expression level of many targets. Most cases of FXS are caused by silencing of FMR1 due to CGG expansions in the 5′-UTR of the gene. Humans also carry the FXR1 and FXR2 paralogs of FMR1 while flies have only one FMR1 gene, here called dFMR1, sharing the same level of sequence homology with all three human genes, but functionally most similar to FMR1. This enables a much easier approach for FMR1 genetic studies. Drosophila has been widely used to investigate FMR1 functions at genetic, cellular, and molecular levels since dFMR1 mutants have many phenotypes in common with the wide spectrum of FMR1 functions that underlay the disease. In this review, we present very recent Drosophila studies investigating FMRP functions at genetic, cellular, molecular, and electrophysiological levels in addition to research on pharmacological treatments in the fly model. These studies have the potential to aid the discovery of pharmacological therapies for FXS.
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7. Golding J, Rai D, Gregory S, Ellis G, Emond A, Iles-Caven Y, Hibbeln J, Taylor C. {{Prenatal mercury exposure and features of autism: a prospective population study}}. {Mol Autism}. 2018; 9: 30.
Background: Mercury (Hg) has been suspected of causing autism in the past, especially a suspected link with vaccinations containing thiomersal, but a review of the literature shows that has been largely repudiated. Of more significant burden is the total quantity of Hg in the environment. Here, we have used the Avon Longitudinal Study of Parents and Children (ALSPAC) to test whether prenatal exposure from total maternal blood Hg in the first half of pregnancy is associated with the risk of autism or of extreme levels of autistic traits. This is the largest longitudinal study to date to have tested this hypothesis and the only one to have considered early pregnancy. Methods: We have used three strategies: (1) direct comparison of 45 pregnancies resulting in children with diagnosed autism from a population of 3840, (2) comparison of high scores on each of the four autistic traits within the population at risk (n~2800), and (3) indirect measures of association of these outcomes with proxies for increased Hg levels such as frequency of fish consumption and exposure to dental amalgam (n > 8000). Logistic regression adjusted for social conditions including maternal age, housing circumstances, maternal education, and parity. Interactions were tested between risks to offspring of fish and non-fish eaters. Results: There was no suggestion of an adverse effect of total prenatal blood Hg levels on diagnosed autism (AOR 0.89; 95% CI 0.65, 1.22) per SD of Hg (P = 0.485). The only indication of adverse effects concerned a measure of poor social cognition when the mother ate no fish, where the AOR was 1.63 [95% CI 1.02, 2.62] per SD of Hg (P = 0.041), significantly different from the association among the offspring of fish-eaters (AOR = 0.74 [95% CI 0.41, 1.35]). Conclusion: In conclusion, our study identifies no adverse effect of prenatal total blood Hg on autism or autistic traits provided the mother ate fish. Although these results should be confirmed in other populations, accumulating evidence substantiates the recommendation to eat fish during pregnancy.
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8. Holloway JM, Long TM, Biasini F. {{Relationships Between Gross Motor Skills and Social Function in Young Boys With Autism Spectrum Disorder}}. {Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association}. 2018.
PURPOSE: The purpose of this study was to examine the relationship between gross motor skills and social function in young boys with autism spectrum disorder. METHODS: Twenty-one children with autism spectrum disorder participated in the study. The Peabody Developmental Motor Scales Second Edition and the Miller Function and Participation Scales were used to assess gross motor skills. The Social Skills Improvement System Rating Scales was used to assess social function. RESULTS: Moderately high correlations were found between overall gross motor and social skills (r = 0.644) and between the core stability motor subtest and overall social skills (r = -0.672). Specific motor impairments in stability, motor accuracy, and object manipulation scores were predictive of social function. CONCLUSIONS: This study suggests that motor skills and social function are related in young boys with autism. Implications for physical therapy intervention are also discussed.
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9. Hsieh MY, Lynch G, Madison C. {{Intervention Techniques Used With Autism Spectrum Disorder by Speech-Language Pathologists in the United States and Taiwan: A Descriptive Analysis of Practice in Clinical Settings}}. {American journal of speech-language pathology}. 2018: 1-14.
Purpose: This study examined intervention techniques used with children with autism spectrum disorder (ASD) by speech-language pathologists (SLPs) in the United States and Taiwan working in clinic/hospital settings. The research questions addressed intervention techniques used with children with ASD, intervention techniques used with different age groups (under and above 8 years old), and training received before using the intervention techniques. Method: The survey was distributed through the American Speech-Language-Hearing Association to selected SLPs across the United States. In Taiwan, the survey (Chinese version) was distributed through the Taiwan Speech-Language Pathologist Union, 2018, to certified SLPs. Results: Results revealed that SLPs in the United States and Taiwan used 4 common intervention techniques: Social Skill Training, Augmentative and Alternative Communication, Picture Exchange Communication System, and Social Stories. Taiwanese SLPs reported SLP preparation program training across these common intervention strategies. In the United States, SLPs reported training via SLP preparation programs, peer therapists, and self-taught. Conclusions: Most SLPs reported using established or emerging evidence-based practices as defined by the National Professional Development Center (2014) and the National Standards Report (2015). Future research should address comparison of SLP preparation programs to examine the impact of preprofessional training on use of evidence-based practices to treat ASD.
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10. Hwang YI, Foley KR, Trollor JN. {{Aging Well on the Autism Spectrum: An Examination of the Dominant Model of Successful Aging}}. {J Autism Dev Disord}. 2018.
There is a gap in our knowledge of aging with autism. The present study examined the applicability of the popular gerontology concept of « aging well » to autistic adults. Using survey data, a model of « aging well » was operationalised and applied to 92 autistic adults and 60 controls. A very small proportion (3.3%) of autistic adults were found to be aging well. Significantly less autistic adults were « maintaining physical and cognitive functioning » and « actively engaging with life » in comparison to controls. Whilst important differences in health and functioning status were found, the current dominant model of « aging well » is limited for examining autistic individuals. Suggested adjustments include development of a broader, more flexible and strengths -based model.
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11. Kang J, Cai E, Han J, Tong Z, Li X, Sokhadze EM, Casanova MF, Ouyang G, Li X. {{Transcranial Direct Current Stimulation (tDCS) Can Modulate EEG Complexity of Children With Autism Spectrum Disorder}}. {Front Neurosci}. 2018; 12: 201.
Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder which affects the developmental trajectory in several behavioral domains, including impairments of social communication, cognitive and language abilities. Transcranial direct current stimulation (tDCS) is a non-invasive brain stimulation technique, and it was used for modulating the brain disorders. In this paper, we enrolled 13 ASD children (11 males and 2 females; mean +/- SD age: 6.5 +/- 1.7 years) to participate in our trial. Each patient received 10 treatments over the dorsolateral prefrontal cortex (DLPFC) once every 2 days. Also, we enrolled 13 ASD children (11 males and 2 females; mean +/- SD age: 6.3 +/- 1.7 years) waiting to receive therapy as controls. A maximum entropy ratio (MER) method was adapted to measure the change of complexity of EEG series. It was found that the MER value significantly increased after tDCS. This study suggests that tDCS may be a helpful tool for the rehabilitation of children with ASD.
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12. Liang J, Wilkinson K. {{Gaze Toward Naturalistic Social Scenes by Individuals With Intellectual and Developmental Disabilities: Implications for Augmentative and Alternative Communication Designs}}. {Journal of speech, language, and hearing research : JSLHR}. 2018: 1-14.
Purpose: A striking characteristic of the social communication deficits in individuals with autism is atypical patterns of eye contact during social interactions. We used eye-tracking technology to evaluate how the number of human figures depicted and the presence of sharing activity between the human figures in still photographs influenced visual attention by individuals with autism, typical development, or Down syndrome. We sought to examine visual attention to the contents of visual scene displays, a growing form of augmentative and alternative communication support. Method: Eye-tracking technology recorded point-of-gaze while participants viewed 32 photographs in which either 2 or 3 human figures were depicted. Sharing activities between these human figures are either present or absent. The sampling rate was 60 Hz; that is, the technology gathered 60 samples of gaze behavior per second, per participant. Gaze behaviors, including latency to fixate and time spent fixating, were quantified. Results: The overall gaze behaviors were quite similar across groups, regardless of the social content depicted. However, individuals with autism were significantly slower than the other groups in latency to first view the human figures, especially when there were 3 people depicted in the photographs (as compared with 2 people). When participants’ own viewing pace was considered, individuals with autism resembled those with Down syndrome. Conclusion: The current study supports the inclusion of social content with various numbers of human figures and sharing activities between human figures into visual scene displays, regardless of the population served. Study design and reporting practices in eye-tracking literature as it relates to autism and Down syndrome are discussed. Supplemental Material: https://doi.org/10.23641/asha.6066545.
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13. Strati F, Calabro A, Donati C, De Felice C, Hayek J, Jousson O, Leoncini S, Renzi D, Rizzetto L, De Filippo C, Cavalieri D. {{Intestinal Candida parapsilosis isolates from Rett syndrome subjects bear potential virulent traits and capacity to persist within the host}}. {BMC gastroenterology}. 2018; 18(1): 57.
BACKGROUND: Rett syndrome (RTT) is a neurological disorder mainly caused by mutations in MeCP2 gene. It has been shown that MeCP2 impairments can lead to cytokine dysregulation due to MeCP2 regulatory role in T-helper and T-reg mediated responses, thus contributing to the pro-inflammatory status associated with RTT. Furthermore, RTT subjects suffer from an intestinal dysbiosis characterized by an abnormal expansion of the Candida population, a known factor responsible for the hyper-activation of pro-inflammatory immune responses. Therefore, we asked whether the intestinal fungal population of RTT subjects might contribute the sub-inflammatory status triggered by MeCP2 deficiency. METHODS: We evaluated the cultivable gut mycobiota from a cohort of 50 RTT patients and 29 healthy controls characterizing the faecal fungal isolates for their virulence-related traits, antifungal resistance and immune reactivity in order to elucidate the role of fungi in RTT’s intestinal dysbiosis and gastrointestinal physiology. RESULTS: Candida parapsilosis, the most abundant yeast species in RTT subjects, showed distinct genotypic profiles if compared to healthy controls’ isolates as measured by hierarchical clustering analysis from RAPD genotyping. Their phenotypical analysis revealed that RTT’s isolates produced more biofilm and were significantly more resistant to azole antifungals compared to the isolates from the healthy controls. In addition, the high levels of IL-1beta and IL-10 produced by peripheral blood mononuclear cells and the mixed Th1/Th17 cells population induced by RTT C. parapsilosis isolates suggest the capacity of these intestinal fungi to persist within the host, being potentially involved in chronic, pro-inflammatory responses. CONCLUSIONS: Here we demonstrated that intestinal C. parapsilosis isolates from RTT subjects hold phenotypic traits that might favour the previously observed low-grade intestinal inflammatory status associated with RTT. Therefore, the presence of putative virulent, pro-inflammatory C. parapsilosis strains in RTT could represent an additional factor in RTT’s gastrointestinal pathophysiology, whose mechanisms are not yet clearly understood.
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14. Sutherland R, Trembath D, Roberts J. {{Telehealth and autism: A systematic search and review of the literature}}. {International journal of speech-language pathology}. 2018: 1-13.
PURPOSE: Research interest in telehealth and autism spectrum disorder (ASD) has grown. There is a need to review the literature to allow speech-language pathologists (SLPs) and other service providers to consider applicability to their settings. The aim of this review was to examine the nature and outcomes of studies examining telehealth assessment and/or intervention in ASD. METHOD: A systematic search of the literature was undertaken, with 14 studies meeting inclusion criteria. The authors extracted information from each included article, including participant characteristics, technology used, measures and reported outcomes. Quality review of articles was undertaken. RESULT: The 284 participants with ASD across the 14 included studies ranged in age from 19 months to adulthood. The quality of the studies varied. A range of services were provided via telehealth, including diagnostic assessments, early intervention and language therapy. Results suggested that services delivered via telehealth were equivalent to services delivered face to face, and superior to comparison groups without telehealth sessions. CONCLUSION: The findings suggest there may be a range of benefits in using telehealth with individuals with ASD, their families, and teachers. Further research, however, is required particularly regarding the use of telehealth directly with children with ASD for assessment and intervention.
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15. Van Hees V, Roeyers H, De Mol J. {{Students with Autism Spectrum Disorder and Their Parents in the Transition into Higher Education: Impact on Dynamics in the Parent-Child Relationship}}. {J Autism Dev Disord}. 2018.
This study examined how 34 senior students and first-year college students with autism spectrum disorder, their mothers (n = 34) and fathers (n = 26) navigate the higher education transition, and how this context impacts on dynamics in the parent-child relationships. Semi-structured interviews were analyzed based on grounded theory and dyadic analysis principles. Both parties were confronted with an abundance of challenges and experienced strong feelings of ambivalence, stress and anxiety. Differences in perspectives occurred regarding the construction of adulthood, the acquisition of autonomy, disclosure and subscribing to support services. These differences caused tensions in the parent-child relationship, hindering the transformation of the relationship into an adult-like mutual relationship. Clinical implications are extrapolated on the basis of these findings.
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16. Yasue M, Nakagami A, Nakagaki K, Ichinohe N, Kawai N. {{Inequity aversion is observed in common marmosets but not in marmoset models of autism induced by prenatal exposure to valproic acid}}. {Behav Brain Res}. 2018; 343: 36-40.
Humans and various nonhuman primates respond negatively to inequity not in their favor (i.e., inequity aversion), when inequity between two individuals is introduced. Common marmosets, a highly prosocial species, further discriminated between human actors who reciprocated in social exchanges, and those who did not. Conversely, marmoset models of autism, induced via prenatal exposure to valproic acid (VPA marmosets), did not discriminate. Interestingly, previous studies of inequity aversion in marmosets have produced negative results, or were limited to males. Recent studies suggest that inequity aversion is highly influenced by the tasks employed. Here we show inequity aversion in both male and female marmosets using a novel task which required a relatively long duration of response. Marmosets were required to hold a spoon for 2s to receive a reward. Marmosets successfully performed the task when they observed an unfamiliar conspecific partner obtaining the same reward (equity test). However, when they witnessed the partner receiving a more attractive reward for equal effort (inequity test), unexposed marmosets, which were not exposed to either valproic acid or saline during the fetal period refused to respond. This inequity aversion was not observed in unexposed marmosets when the partner was absent.In contrast, marmosets with fetal exposure to valproic acid (VPA marmosets) successfully executed the task irrespective of their partners’ reward conditions. As prenatal exposure to valproic acid is a well-known procedure to induce autism spectrum disorder (ASD)-like behaviors in rodents, we propose that VPA marmosets failed to show inequity aversion due to weak social motivation or interest towards others.
