1. Adams D, Emerson LM. {{The Impact of Anxiety in Children on the Autism Spectrum}}. {J Autism Dev Disord};2020 (Sep 2)
The recognition of anxiety as one of the most commonly co-occurring diagnoses for individuals on the autism spectrum has led to increased research on symptomatology and treatment, but there is limited research documenting the impact of this anxiety. To address this, this study reports on the Child Anxiety Life Interference Scale (CALIS, parent version) in a community sample of 121 parents of children on the autism spectrum. Scores indicate that the anxiety is impacting upon the child’s engagement in activities both in and outside of home as well as impacting upon parent life. Explanatory variables differed for CALIS subscales. As the child’s difficulties with uncertainty and parent level of anxiety were the variables that explained the most variance, these may be important foci for effective interventions.
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2. Bagnall-Moreau C, Huerta PT, Comoletti D, La-Bella A, Berlin R, Zhao C, Volpe BT, Diamond B, Brimberg L. {{In utero exposure to endogenous maternal polyclonal anti-Caspr2 antibody leads to behavioral abnormalities resembling autism spectrum disorder in male mice}}. {Sci Rep};2020 (Sep 2);10(1):14446.
The concept that exposure in utero to maternal anti-brain antibodies contributes to the development of autism spectrum disorders (ASD) has been entertained for over a decade. We determined that antibodies targeting Caspr2 are present at high frequency in mothers with brain-reactive serology and a child with ASD, and further demonstrated that exposure in utero to a monoclonal anti-Caspr2 antibody, derived from a mother of an ASD child, led to an-ASD like phenotype in male offspring. Now we propose a new model to study the effects of in utero exposure to anti-Caspr2 antibody. Dams immunized with the extracellular portion of Caspr2 express anti-Caspr2 antibodies throughout gestation to better mimic the human condition. Male but not female mice born to dams harboring polyclonal anti-Caspr2 antibodies showed abnormal cortical development, decreased dendritic complexity of excitatory neurons and reduced numbers of inhibitory neurons in the hippocampus, as well as repetitive behaviors and impairments in novelty interest in the social preference test as adults. These data supporting the pathogenicity of anti-Caspr2 antibodies are consistent with the concept that anti-brain antibodies present in women during gestation can alter fetal brain development, and confirm that males are peculiarly susceptible.
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3. Bundgaard-Nielsen C, Knudsen J, Leutscher PDC, Lauritsen MB, Nyegaard M, Hagstrøm S, Sørensen S. {{Gut microbiota profiles of autism spectrum disorder and attention deficit/hyperactivity disorder: A systematic literature review}}. {Gut Microbes};2020 (Sep 2);11(5):1172-1187.
Accumulating evidence has implicated an involvement of the gut-brain axis in autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD), however with highly diverse results. This systematic review aims to describe and evaluate studies investigating the gut microbiota composition in individuals with ASD or ADHD and to evaluate if variations in gut microbiota are associated with these disorders. Twenty-four articles were identified in a systematic literature search of PubMed and Embase up to July 22, 2019. They consisted of 20 studies investigating ASD and four studies investigating ADHD. For ASD, several studies agreed on an overall difference in β-diversity, although no consistent bacterial variation between all studies was reported. For ADHD, the results were more diverse, with no clear differences observed. Several common characteristics in gut microbiota function were identified for ASD compared to controls. In contrast, highly heterogeneous results were reported for ADHD, and thus the association between gut microbiota composition and ADHD remains unclear. For both disorders, methodological differences hampered the comparison of studies.
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4. Dan Z, Mao X, Liu Q, Guo M, Zhuang Y, Liu Z, Chen K, Chen J, Xu R, Tang J, Qin L, Gu B, Liu K, Su C, Zhang F, Xia Y, Hu Z, Liu X. {{Altered gut microbial profile is associated with abnormal metabolism activity of Autism Spectrum Disorder}}. {Gut Microbes};2020 (Sep 2);11(5):1246-1267.
Autism Spectrum Disorder (ASD) is a severe neurodevelopmental disorder. To enhance the understanding of the gut microbiota structure in ASD children at different ages as well as the relationship between gut microbiota and fecal metabolites, we first used the 16S rRNA sequencing to evaluate the gut microbial population in a cohort of 143 children aged 2-13 years old. We found that the α-diversity of ASD group showed no significant change with age, while the TD group showed increased α-diversity with age, which indicates that the compositional development of the gut microbiota in ASD varies at different ages in ways that are not consistent with TD group. Recent studies have shown that chronic constipation is one of the most commonly obvious gastrointestinal (GI) symptoms along with ASD core symptoms. To further investigate the potential interaction effects between ASD and GI symptoms, the 30 C-ASD and their aged-matched TD were picked out to perform metagenomics analysis. We observed that C-ASD group displayed decreased diversity, depletion of species of Sutterella, Prevotella, and Bacteroides as well as dysregulation of associated metabolism activities, which may involve in the pathogenesis of C-ASD. Consistent with metagenomic analysis, liquid chromatography-mass spectrometry (LC/MS) revealed some of the differential metabolites between C-ASD and TD group were involved in the metabolic network of neurotransmitters including serotonin, dopamine, histidine, and GABA. Furthermore, we found these differences in metabolites were associated with altered abundance of specific bacteria. The study suggested possible future modalities for ASD intervention through targeting the specific bacteria associated with neurotransmitter metabolism.
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5. DaWalt LS, Taylor JL, Bishop S, Hall LJ, Steinbrenner JD, Kraemer B, Hume KA, Odom SL. {{Sex Differences in Social Participation of High School Students with Autism Spectrum Disorder}}. {Autism Res};2020 (Sep 2)
There is lack of consensus in the literature regarding sex differences in social outcomes for individuals on the autism spectrum. Furthermore, little research has focused on the social experiences of high school students with autism spectrum disorder (ASD) during the school day. Using a large racially/ethnically diverse sample of high school students with ASD receiving special education services (n = 547; 76 females, 471 males), we examined sex differences in social interactions of youth both during and after school. We also tested for sex differences in background and phenotypic characteristics including autism severity, IQ, adaptive behavior, and mental health. Results indicated few statistically significant differences between males and females in social interactions and phenotypic characteristics (including raw scores of autism symptom severity). However, analysis of standardized scores of autism symptoms suggested that symptom scores for females with ASD diverged more from same-sex peers in the normed sample than scores of males with ASD. Lack of sex difference in social participation for youth with ASD in this study stands in contrast to patterns of sex differences in the general population. Findings suggest that few differences between males and females with ASD, both in social participation and autism symptom severity, might result in females with ASD being more dissimilar to their same-sex peers than males with ASD. Implications of findings for understanding sex differences in ASD across the life course are discussed. LAY SUMMARY: The present study examined sex differences in social participation in a large, diverse sample of high school students with autism spectrum disorder (ASD). Males and females were very similar in their social interactions both at school and outside of school, based on reports by teachers and parents. Level of autism symptoms was also similar for males and females. However, standardized scores of autism symptoms, which take into account age and sex specific norms, suggested that females with ASD may have behaviors that are more divergent from their same-sex peers than males with ASD.
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6. Fairchild G. {{Shared or Distinct Alterations in Brain Structure in Disorders Across the Impulsivity-Compulsivity Spectrum: What Can We Learn From Cross-Disorder Comparisons of ADHD, ASD, and OCD?}}. {Am J Psychiatry};2020 (Sep 1);177(9):799-801.
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7. Hartman JS, Silver AH. {{Nutritional Rickets Due to Severe Food Selectivity in Autism Spectrum Disorder}}. {J Dev Behav Pediatr};2020 (Sep 2)
OBJECTIVE: Studies have detected differences in various measures of bone health between individuals with autism spectrum disorder (ASD) and their peers. However, these measures do not amount to direct clinical evidence of increased orthopedic pathology in this population. Some of the most compelling evidence to this effect comes from case reports of nutritional rickets in children with ASD. We report on 1 such case that, to our knowledge, is the first report of nutritional rickets in ASD necessitating corrective surgery. METHODS: Case report, review of relevant literature, and implications for further research. RESULTS: An 11-year-old girl with ASD was admitted for postoperative medical comanagement after successful repair of bilateral genu valgum (knock knees). On admission, the patient’s mother reported that the patient was a « picky eater. » No cause had been determined preoperatively, although the deformity had developed at 10 years of age, thereby qualifying as pathologic. The medical team considered rickets because of the patient’s limited diet. Subsequent laboratory work demonstrated hypocalcemia, vitamin D deficiency, and secondary hyperparathyroidism. The patient was diagnosed with nutritional rickets due to inadequate vitamin D intake, a consequence of severe food selectivity associated with ASD. CONCLUSION: This case exemplifies the extreme orthopedic and metabolic complications that can result from food selectivity in children with ASD, pointing to the need for further research into the prevalence and causes of orthopedic pathology and nutritional rickets in this population. The case also underscores the need for evidence-based guidelines to prevent orthopedic pathology in children with ASD.
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8. Hill MM, Gangi D, Miller M, Rafi SM, Ozonoff S. {{Screen time in 36-month-olds at increased likelihood for ASD and ADHD}}. {Infant Behav Dev};2020 (Aug 29);61:101484.
We examined the relationship between video-based media viewing (screen time), behavioral outcomes, and language development in 120 36-month-old children with a family history of Autism Spectrum Disorder (ASD) or Attention-Deficit/Hyperactivity Disorder (ADHD) or no family history of either condition. Participants were classified into one of three diagnostic groups: ASD (n = 20), ADHD Concerns (children with elevated ADHD symptoms; n = 14), or Comparison (n = 86). Children in the ADHD Concerns group spent more time viewing screen media than Comparison children. Increased screen time was associated with lower receptive and expressive language scores across groups. Future longitudinal studies are needed to determine the direction of effects and causality.
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9. Iakovidou N, Lanzarini E, Singh J, Fiori F, Santosh P. {{Differentiating Females with Rett Syndrome and Those with Multi-Comorbid Autism Spectrum Disorder Using Physiological Biomarkers: A Novel Approach}}. {J Clin Med};2020 (Sep 2);9(9)
This study explored the use of wearable sensor technology to investigate autonomic function in children with autism spectrum disorder (ASD) and Rett syndrome (RTT). We aimed to identify autonomic biomarkers that can correctly differentiate females with ASD and Rett Syndrome using an innovative methodology that applies machine learning approaches. Our findings suggest that we can predict (95%) the status of ASD/Rett. We conclude that physiological biomarkers may be able to assist in the differentiation between patients with RTT and ASD and could allow the development of timely therapeutic strategies.
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10. Kellerman AM, Schwichtenberg AJ, Abu-Zhaya R, Miller M, Young GS, Ozonoff S. {{Dyadic Synchrony and Responsiveness in the First Year: Associations with Autism Risk}}. {Autism Res};2020 (Sep 1)
In the first year of life, the ability to engage in sustained synchronous interactions develops as infants learn to match social partner behaviors and sequentially regulate their behaviors in response to others. Difficulties developing competence in these early social building blocks can impact later language skills, joint attention, and emotion regulation. For children at elevated risk for autism spectrum disorder (ASD), early dyadic synchrony and responsiveness difficulties may be indicative of emerging ASD and/or developmental concerns. As part of a prospective developmental monitoring study, infant siblings of children with ASD (high-risk group n = 104) or typical development (low-risk group n = 71), and their mothers completed a standardized play task when infants were 6, 9, and/or 12 months of age. These interactions were coded for the frequency and duration of infant and mother gaze, positive affect, and vocalizations, respectively. Using these codes, theory-driven composites were created to index dyadic synchrony and infant/maternal responsiveness. Multilevel models revealed significant risk group differences in dyadic synchrony and infant responsiveness by 12 months of age. In addition, high-risk infants with higher dyadic synchrony and infant responsiveness at 12 months received significantly higher receptive and expressive language scores at 36 months. The findings of the present study highlight that promoting dyadic synchrony and responsiveness may aid in advancing optimal development in children at elevated risk for autism. LAY SUMMARY: In families raising children with an autism spectrum disorder (ASD), younger siblings are at elevated risks for social communication difficulties. The present study explored whether social-communication differences were evident during a parent-child play task at 6, 9, and 12 months of age. For infant siblings of children with ASD, social differences during play were observed by 12 months of age and may inform ongoing monitoring and intervention efforts.
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11. Kent C, Cordier R, Joosten A, Wilkes-Gillan S, Bundy A. {{Can I Learn to Play? Randomized Control Trial to Assess Effectiveness of a Peer-Mediated Intervention to Improve Play in Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2020 (Sep 1)
Play is often used in interventions to improve social outcomes for children with autism spectrum disorders (ASD). Play is a primary occupation of childhood and, therefore, an important outcome of intervention. The Ultimate Guide to Play, Language and Friendship (PLF) is a peer-mediated intervention for 6-11-year-old children with ASD. A total of 68 dyads were randomized to either a 10-week treatment first or waitlist control group. Results revealed a significant moderate intervention effect from pre- to post-intervention, which was maintained to the 3-month follow-up clinic session and generalized to the home environment. The findings support that the PLF intervention can be used to positively improve play in 6-11-year-old children with ASD.Australian New Zealand Clinical Trials Registry, https://www.anzctr.org.au/ (ACTRN12615000008527; Universal Trial Number: U1111-1165-2708).
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12. Lindgren S, Lauer E, Momany E, Cope T, Royer J, Cogan L, McDermott S, Armour BS. {{Disability, Hospital Care, and Cost: Utilization of Emergency and Inpatient Care by a Cohort of Children with Intellectual and Developmental Disabilities}}. {J Pediatr};2020 (Sep 2)
OBJECTIVE: To use medical claims data to determine patterns of healthcare utilization in children with intellectual and developmental disabilities, including frequency of service utilization, conditions that require hospital care, and costs. STUDY EESIGN: Medicaid administrative claims from four states (Iowa, Massachusetts, New York, and South Carolina) from years 2008-2013 were analyzed, including 108,789 children (75,417 male; 33,372 female) under 18 years with intellectual and developmental disabilities. Diagnoses included cerebral palsy, autism, fetal alcohol syndrome, Down syndrome/trisomy/autosomal deletions, other genetic conditions, and intellectual disability. Utilization of ED and inpatient hospital services were analyzed for 2012. RESULTS: Children with intellectual and developmental disabilities used both inpatient and ED care at 1.8 times that of the general population. Epilepsy/convulsions was the most frequent reason for hospitalization at 20 times the relative risk of the general population. Other frequent diagnoses requiring hospitalization were mood disorders, pneumonia, paralysis, and asthma. Annual per capita expenses for hospitalization and ED care were 100% higher for children with intellectual and developmental disabilities, compared with the general population ($153,348,562 and $76,654,361, respectively). CONCLUSIONS: Children with intellectual and developmental disabilities utilize significantly more ED and inpatient care than other children, which results in higher annual costs. Recognizing chronic conditions that increase risk for hospital care can provide guidance for developing outpatient care strategies that anticipate common clinical problems in intellectual and developmental disabilities and ensure responsive management before hospital care is needed.
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13. Lyall K, Windham GC, Snyder NW, Kuskovsky R, Xu P, Bostwick A, Robinson L, Newschaffer CJ. {{Mid-Pregnancy Polyunsaturated Fatty Acid Levels in Association with Child Autism Spectrum Disorder in a California Population-Based Case-Control Study}}. {Am J Epidemiol};2020 (Sep 2)
Polyunsaturated fatty acids (PUFAs) are critical for brain development and have been linked with neurodevelopmental outcomes. We conducted a population-based case control study in California to examine the association between PUFAs measured in mid-pregnancy serum samples and child autism spectrum disorder (ASD). ASD cases (n = 499) were identified through the Department of Developmental Services and matched to live-birth population controls (n = 502) on birth month, year (2010-2011), and sex. Crude and adjusted logistic regression models were used to examine associations. Secondary analyses examined ASD with and without co-occurring intellectual disability (ID; n = 67 and 432 respectively), and effect modification by sex and ethnicity. No clear patterns emerged, though there was a modest inverse association with the top quartile of linoleic acid (highest versus lowest quartile, adjusted OR = 0.74, 95% CI: 0.49, 1.11; P for trend = 0.10). Lower levels of total and ω 3 PUFAs were associated with ASD with ID (lowest decile versus deciles 4-7, total PUFA adjusted OR = 2.78 95% CI: 1.13, 6.82) but not ASD without ID. We did not observe evidence of effect modification by factors examined. Findings do not suggest a strong association between mid-pregnancy PUFA levels and ASD. Further work should consider associations with ASD with ID and in other time windows.
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14. Majumder M, Johnson RH, Palanisamy V. {{Fragile X-related protein family: a double-edged sword in neurodevelopmental disorders and cancer}}. {Crit Rev Biochem Mol Biol};2020 (Sep 2):1-16.
The fragile X-related (FXR) family proteins FMRP, FXR1, and FXR2 are RNA binding proteins that play a critical role in RNA metabolism, neuronal plasticity, and muscle development. These proteins share significant homology in their protein domains, which are functionally and structurally similar to each other. FXR family members are known to play an essential role in causing fragile X mental retardation syndrome (FXS), the most common genetic form of autism spectrum disorder. Recent advances in our understanding of this family of proteins have occurred in tandem with discoveries of great importance to neurological disorders and cancer biology via the identification of their novel RNA and protein targets. Herein, we review the FXR family of proteins as they pertain to FXS, other mental illnesses, and cancer. We emphasize recent findings and analyses that suggest contrasting functions of this protein family in FXS and tumorigenesis based on their expression patterns in human tissues. Finally, we discuss current gaps in our knowledge regarding the FXR protein family and their role in FXS and cancer and suggest future studies to facilitate bench to bedside translation of the findings.
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15. Márquez-Caraveo ME, Ibarra-González I, Rodríguez-Valentín R, Ramírez-García M, Pérez-Barrón V, Lazcano-Ponce E, Vela-Amieva M. {{Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders}}. {J Autism Dev Disord};2020 (Sep 2)
The objective of our study was to evaluate the frequency of treatable inborn errors of metabolism (IEM) in a clinical sample of Mexican children and adolescents with neurodevelopmental disorders (NDD). Amino acids and acylcarnitines in blood samples of 51 unrelated children and adolescents were analyzed by tandem mass spectrometry to detect treatable IEM of small molecules. One patient with isovaleric acidemia and autism spectrum disorder (ASD) and another with beta-ketothiolase deficiency and ASD/intellectual disability/attention-deficit/hyperactivity disorder (ADHD) were diagnosed, indicating an IEM frequency of 3.9% (1:26 subjects). The high frequency of treatable IEM indicates the need to perform a minimum metabolic screening as part of the diagnostic approach for patient with NDD, particularly when newborn screening programs are limited to a few disorders.
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16. Matta SM, Moore Z, Walker FR, Hill-Yardin EL, Crack PJ. {{An altered glial phenotype in the NL3(R451C) mouse model of autism}}. {Sci Rep};2020 (Sep 2);10(1):14492.
Autism Spectrum Disorder (ASD; autism) is a neurodevelopmental disorder characterised by deficits in social communication, and restricted and/or repetitive behaviours. While the precise pathophysiologies are unclear, increasing evidence supports a role for dysregulated neuroinflammation in the brain with potential effects on synapse function. Here, we studied characteristics of microglia and astrocytes in the Neuroligin-3 (NL3(R451C)) mouse model of autism since these cell types are involved in regulating both immune and synapse function. We observed increased microglial density in the dentate gyrus (DG) of NL3(R451C) mice without morphological differences. In contrast, WT and NL3(R451C) mice had similar astrocyte density but astrocyte branch length, the number of branch points, as well as cell radius and area were reduced in the DG of NL3(R451C) mice. Because retraction of astrocytic processes has been linked to altered synaptic transmission and dendrite formation, we assessed for regional changes in pre- and postsynaptic protein expression in the cortex, striatum and cerebellum in NL3(R451C) mice. NL3(R451C) mice showed increased striatal postsynaptic density 95 (PSD-95) protein levels and decreased cortical expression of synaptosomal-associated protein 25 (SNAP-25). These changes could contribute to dysregulated neurotransmission and cognition deficits previously reported in these mice.
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17. Mogensen RLH, Hedegaard MB, Olsen LR, Gebauer L. {{Linking the Puzzle Pieces of the Past: A Study of Relational Memory in Children with Autism Spectrum Disorder}}. {Autism Res};2020 (Sep 1)
Our memories are made of detailed sensory information representing the puzzle pieces of our personal past. The type of memory integrating sensory features is referred to as relational memory. The main objective of this study was to investigate whether relational memory is affected in children with autism spectrum disorder (ASD) since altered relational memory may contribute to atypical episodic memory observed in ASD. We also examined the association between perceptual style and relational memory abilities. Children with ASD (n = 14) and typically developed (TD) children (n = 16, 9-15 years old) completed a memory task with three conditions: two single-feature conditions measuring memory for objects and locations, and one relational memory condition measuring memory for objects and their locations combined. The Children’s embedded figures test was administered to measure perceptual style. The ASD group selected more incorrect stimuli (false alarms) than the TD group, resulting in a lower proportion of correctly recognized targets across all memory conditions. The ASD group did not display a more local perceptual style than the TD group. However, perceptual style was associated with improved memory abilities across conditions. Our findings indicate that the overall memory performance of children with ASD is less stable, leading them to more incorrect responses than TD children. This may be due to the executive demands of the memory tasks, rather than specific impairments in memory binding. LAY SUMMARY: The present study shows that children with autism have a less stable memory than typically developed children, which is reflected in a higher amount of incorrect memory responses. Overall, our results indicate that children with autism display difficulties in differentiating previously studied from novel information when solving both single-feature memory tasks and a relational memory task (requiring memory of combination of features). These difficulties may have implications for how children with autism remember episodes from their personal past.
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18. Noroozi R, Dinger ME, Fatehi R, Taheri M, Ghafouri-Fard S. {{Identification of miRNA-mRNA Network in Autism Spectrum Disorder Using a Bioinformatics Method}}. {J Mol Neurosci};2020 (Sep 2)
Autism spectrum disorder (ASD) includes a heterogeneous group of disorders with different contributing genetics and epigenetics factors. Aberrant expression of miRNAs has been detected in ASD children compared with normally developed children. Due to the heterogeneity of this disorder, there is no consensus on ASD-associated miRNAs; thus, it is necessary to develop a model for comprehensive assessment of the role of miRNAs in ASD. We interrogated the PubMed, Google Scholar, and Web of Science databases until the end of 2019 to identify ASD-associated miRNAs. In addition, mRNA-coding genes that contribute to the pathogenesis of ASD were downloaded from the SFARI GENE ( https://gene.sfari.org/ ). The obtained 201 miRNAs and 478 target mRNAs were imported into the Cytoscape software suite to construct a miRNA-mRNA network. A protein-protein interaction network was constructed for target mRNAs using the CluPedia program in Cytoscape. Using this approach, we detected five modules that were associated with neurexins and neuroligins, glutamatergic synapse, cell adhesion molecules, NOTCH, MECP2 and circadian clock pathways, L1CAM interactions, and neurotransmitter release cycle. Taken together, functional analysis of these genes led to determination of critical pathways related to CNS disorders. Thus, the suggested approach in the current study resulted in the identification of the most relevant pathways in the pathogenesis of ASD that can be used as biomarkers or therapeutic targets.
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19. O’Neill SJ, Smyth S, Smeaton A, O’Connor NE. {{Assistive technology: Understanding the needs and experiences of individuals with autism spectrum disorder and/or intellectual disability in Ireland and the UK}}. {Assist Technol};2020 (Sep 2);32(5):251-259.
Assistive technologies (ATs) aimed at improving the life quality of persons with Autism Spectrum Disorder and/or Intellectual Disability (ASD/ID) is an important research area. Few have examined how this population use and experience AT or their vision for future uses of AT. The present study aimed to update and extend previous research and provides insight from caregivers, and other stakeholders (n = 96), living in Ireland and the United Kingdom, on their experiences of assistive technology (AT) for ASD/ID. Caregiver and professional responses to an anonymous online survey showed that focus individuals were rated low in terms of independent and self-management skills, with scheduling and planning and communication identified as desirable future AT functions. Overall, positive experiences of AT were reported, with AT use more than doubling in recent years.
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20. Ragusa M, Santagati M, Mirabella F, Lauretta G, Cirnigliaro M, Brex D, Barbagallo C, Domini CN, Gulisano M, Barone R, Trovato L, Oliveri S, Mongelli G, Spitale A, Barbagallo D, Di Pietro C, Stefani S, Rizzo R, Purrello M. {{Potential Associations Among Alteration of Salivary miRNAs, Saliva Microbiome Structure, and Cognitive Impairments in Autistic Children}}. {Int J Mol Sci};2020 (Aug 27);21(17)
Recent evidence has demonstrated that salivary molecules, as well as bacterial populations, can be perturbed by several pathological conditions, including neuro-psychiatric diseases. This relationship between brain functionality and saliva composition could be exploited to unveil new pathological mechanisms of elusive diseases, such as Autistic Spectrum Disorder (ASD). We performed a combined approach of miRNA expression profiling by NanoString technology, followed by validation experiments in qPCR, and 16S rRNA microbiome analysis on saliva from 53 ASD and 27 neurologically unaffected control (NUC) children. MiR-29a-3p and miR-141-3p were upregulated, while miR-16-5p, let-7b-5p, and miR-451a were downregulated in ASD compared to NUCs. Microbiome analysis on the same subjects revealed that Rothia, Filifactor, Actinobacillus, Weeksellaceae, Ralstonia, Pasteurellaceae, and Aggregatibacter increased their abundance in ASD patients, while Tannerella, Moryella and TM7-3 decreased. Variations of both miRNAs and microbes were statistically associated to different neuropsychological scores related to anomalies in social interaction and communication. Among miRNA/bacteria associations, the most relevant was the negative correlation between salivary miR-141-3p expression and Tannerella abundance. MiRNA and microbiome dysregulations found in the saliva of ASD children are potentially associated with cognitive impairments of the subjects. Furthermore, a potential cross-talking between circulating miRNAs and resident bacteria could occur in saliva of ASD.
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21. Ruan M, Webster PJ, Li X, Wang S. {{Deep Neural Network Reveals the World of Autism From a First-Person Perspective}}. {Autism Res};2020 (Sep 1)
People with autism spectrum disorder (ASD) show atypical attention to social stimuli and aberrant gaze when viewing images of the physical world. However, it is unknown how they perceive the world from a first-person perspective. In this study, we used machine learning to classify photos taken in three different categories (people, indoors, and outdoors) as either having been taken by individuals with ASD or by peers without ASD. Our classifier effectively discriminated photos from all three categories, but was particularly successful at classifying photos of people with >80% accuracy. Importantly, visualization of our model revealed critical features that led to successful discrimination and showed that our model adopted a strategy similar to that of ASD experts. Furthermore, for the first time we showed that photos taken by individuals with ASD contained less salient objects, especially in the central visual field. Notably, our model outperformed classification of these photos by ASD experts. Together, we demonstrate an effective and novel method that is capable of discerning photos taken by individuals with ASD and revealing aberrant visual attention in ASD from a unique first-person perspective. Our method may in turn provide an objective measure for evaluations of individuals with ASD. LAY SUMMARY: People with autism spectrum disorder (ASD) demonstrate atypical visual attention to social stimuli. However, it remains largely unclear how they perceive the world from a first-person perspective. In this study, we employed a deep learning approach to analyze a unique dataset of photos taken by people with and without ASD. Our computer modeling was not only able to discern which photos were taken by individuals with ASD, outperforming ASD experts, but importantly, it revealed critical features that led to successful discrimination, revealing aspects of atypical visual attention in ASD from their first-person perspective.
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22. Siemann JK, Veenstra-VanderWeele J, Wallace MT. {{Approaches to Understanding Multisensory Dysfunction in Autism Spectrum Disorder}}. {Autism Res};2020 (Sep 1)
Abnormal sensory responses are a DSM-5 symptom of autism spectrum disorder (ASD), and research findings demonstrate altered sensory processing in ASD. Beyond difficulties with processing information within single sensory domains, including both hypersensitivity and hyposensitivity, difficulties in multisensory processing are becoming a core issue of focus in ASD. These difficulties may be targeted by treatment approaches such as « sensory integration, » which is frequently applied in autism treatment but not yet based on clear evidence. Recently, psychophysical data have emerged to demonstrate multisensory deficits in some children with ASD. Unlike deficits in social communication, which are best understood in humans, sensory and multisensory changes offer a tractable marker of circuit dysfunction that is more easily translated into animal model systems to probe the underlying neurobiological mechanisms. Paralleling experimental paradigms that were previously applied in humans and larger mammals, we and others have demonstrated that multisensory function can also be examined behaviorally in rodents. Here, we review the sensory and multisensory difficulties commonly found in ASD, examining laboratory findings that relate these findings across species. Next, we discuss the known neurobiology of multisensory integration, drawing largely on experimental work in larger mammals, and extensions of these paradigms into rodents. Finally, we describe emerging investigations into multisensory processing in genetic mouse models related to autism risk. By detailing findings from humans to mice, we highlight the advantage of multisensory paradigms that can be easily translated across species, as well as the potential for rodent experimental systems to reveal opportunities for novel treatments. LAY SUMMARY: Sensory and multisensory deficits are commonly found in ASD and may result in cascading effects that impact social communication. By using similar experiments to those in humans, we discuss how studies in animal models may allow an understanding of the brain mechanisms that underlie difficulties in multisensory integration, with the ultimate goal of developing new treatments.
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23. Straiton D, Groom B, Ingersoll B. {{Parent Training for Youth with Autism Served in Community Settings: A Mixed-Methods Investigation Within a Community Mental Health System}}. {J Autism Dev Disord};2020 (Sep 2)
Parent training programs focus on parent knowledge and/or skill development regarding strategies to improve child outcomes. Parent training programs are considered evidenced-based treatments for autism spectrum disorder (ASD). Yet little is known about parent training use for youth with ASD served in community settings. This mixed methods project examined parent training for Medicaid-enrolled youth with ASD under age 21. Data were obtained from Medicaid claims for 879 youth and surveys from 97 applied behavior analysis (ABA) providers. Open-ended survey items were analyzed with content analysis. Results demonstrated that the frequency of parent training was low and providers’ conceptualization of parent training was inconsistent with evidence-based models. Providers are largely unaware of evidence-based components (i.e., modeling, caregiver practice with feedback) and use them infrequently. Implications for increasing parent training in community settings are discussed.
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24. Tillmann J, Uljarevic M, Crawley D, Dumas G, Loth E, Murphy D, Buitelaar J, Charman T. {{Dissecting the phenotypic heterogeneity in sensory features in autism spectrum disorder: a factor mixture modelling approach}}. {Mol Autism};2020 (Aug 31);11(1):67.
BACKGROUND: Heterogeneity in the phenotypic presentation of autism spectrum disorder (ASD) is apparent in the profile and the severity of sensory features. Here, we applied factor mixture modelling (FMM) to test a multidimensional factor model of sensory processing in ASD. We aimed to identify homogeneous sensory subgroups in ASD that differ intrinsically in their severity along continuous factor scores. We also investigated sensory subgroups in relation to clinical variables: sex, age, IQ, social-communication symptoms, restricted and repetitive behaviours, adaptive functioning and symptoms of anxiety and attention-deficit/hyperactivity disorder. METHODS: Three hundred thirty-two children and adults with ASD between the ages of 6 and 30 years with IQs varying between 40 and 148 were included. First, three different confirmatory factor models were fit to the 38 items of the Short Sensory Profile (SSP). Then, latent class models (with two-to-six subgroups) were evaluated. The best performing factor model, the 7-factor structure, was subsequently used in two FMMs that varied in the number of subgroups: a two-subgroup, seven-factor model and a three-subgroup and seven-factor model. RESULTS: The ‘three-subgroup/seven-factor’ FMM was superior to all other models based on different fit criteria. Identified subgroups differed in sensory severity from severe, moderate to low. Accounting for the potential confounding effects of age and IQ, participants in these sensory subgroups had different levels of social-communicative symptoms, restricted and repetitive behaviours, adaptive functioning skills and symptoms of inattention and anxiety. LIMITATIONS: Results were derived using a single parent-report measure of sensory features, the SSP, which limits the generalisability of findings. CONCLUSION: Sensory features can be best described by three homogeneous sensory subgroups that differ in sensory severity gradients along seven continuous factor scores. Identified sensory subgroups were further differentiated by the severity of core and co-occurring symptoms, and level of adaptive functioning, providing novel evidence on the associated clinical correlates of sensory subgroups. These sensory subgroups provide a platform to further interrogate the neurobiological and genetic correlates of altered sensory processing in ASD.
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25. Velasquez F, Wiggins JL, Mattson WI, Martin DM, Lord C, Monk CS. {{Erratum to « The influence of 5-HTTLPR transporter genotype on amygdala-subgenual anterior cingulate cortex connectivity in autism spectrum disorder » [Dev. Cognit. Neurosci. 24 April (2017) 12-20]}}. {Dev Cogn Neurosci};2020 (Aug 28):100844.
