1. Alshihri AA, Al-Askar MH, Aldossary MS. {{Correction to: Barriers to Professional Dental Care among Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2020.
In the original publication of the article, the author’s affiliation was processed incorrectly without the name of department. The correct affiliation of the author « Mohammed S. Aldossary » is given below.
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2. Ammons CJ, Winslett ME, Kana RK. {{Neural responses to viewing human faces in autism spectrum disorder: A quantitative meta-analysis of two decades of research}}. {Neuropsychologia}. 2020; 150: 107694.
The human face communicates a wealth of socially relevant information such as person identity, emotion, and intention. A consistent behavioral finding in autism spectrum disorder (ASD) is reduced attention to or difficulty drawing meaning from faces. However, neuroimaging research into the neural correlates of face processing differences in ASD has returned mixed results. While many studies find hypo-activation or hypo-connectivity of core and extended face network regions, others show hyper-activation, equal activation, or even activation shifted to object-selective fusiform gyrus (FG) regions in ASD during face processing. This study consolidates two decades of literature to reveal common and consistent patterns of brain activation when viewing human faces in ASD. It also addresses whether face processing in ASD is routinely shifted to object-centric regions of the FG. To do so, we conducted an extensive search of the neuroimaging literature according to PRISMA guidelines. Peak activation coordinates from a final set of 23 studies, yielding a sample of 713 participants (338 ASD), were included for quantitative meta-analysis using Activation Likelihood Estimation (ALE). ASD within-group results across studies revealed a single activation cluster in the left FG, which presented laterally to the mid-fusiform sulcus (MFS). Typically developing groups displayed common activations across core and extended face network regions. Exploratory analysis of between group findings from the literature did not yield significant results. Overall, our results suggest that individuals with ASD consistently activate at least one typical face network region, the left FG, when processing faces and this activation is not routinely shifted to object-centric areas of the FG.
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3. Audras-Torrent L, Miniarikova E, Couty F, Dellapiazza F, Berard M, Michelon C, Picot MC, Baghdadli A. {{WISC-V Profiles and Their Correlates in Children with Autism Spectrum Disorder without Intellectual Developmental Disorder: Report from the ELENA Cohort}}. {Autism Res}. 2020.
The intellectual functioning of people with autism spectrum disorder (ASD) without intellectual developmental disorder (IDD) has not been widely studied. However, marked heterogeneity in assessment measures, samples, and results has been an obstacle for the generalization of findings. We aimed to (a) describe WISC-V intellectual functioning in a sample of children with autism spectrum disorder without intellectual developmental disorder, (b) identify WISC-V profiles, and (c) explore whether WISC-V intellectual functioning is related to ASD symptom severity and adaptive skills. Our sample consisted of 121 children from 6 to 16 years of age with ascertained ASD without an intellectual developmental disorder (IDD). The intellectual functioning of the participants was within the average range. Intra-individual analysis showed that children with ASD performed better on visual than auditory working-memory tasks. Moreover, the intellectual functioning of the participants correlated negatively with ASD symptom severity but positively with adaptive communication skills. Overall, we identified six intellectual profiles according to verbal and reasoning skills. These findings highlight the relevance of WISC-V assessment for children with ASD without an IDD to individualize intervention, especially remediation. LAY SUMMARY: This study examined WISC-V intellectual functioning in 121 children with autism spectrum disorder (ASD) without an intellectual developmental disorder (IDD). We found their intellectual functioning to be within the average, as was that of their peers with typical development (TD), and their verbal and reasoning skills were the most discriminant. In addition, the better their intellectual functioning was, the better their adaptive communication skills and the less severe their ASD symptoms. These findings highlight the relevance of WISC-V assessment in ASD to individualize early psychological remediation.
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4. Bathelt J, Geurts HM. {{Difference in default mode network subsystems in autism across childhood and adolescence}}. {Autism}. 2020: 1362361320969258.
Neuroimaging research has identified a network of brain regions that are more active when we daydream compared to when we are engaged in a task. This network has been named the default mode network. Furthermore, differences in the default mode network are the most consistent findings in neuroimaging research in autism. Recent studies suggest that the default mode network is composed of subnetworks that are tied to different functions, namely memory and understanding others’ minds. In this study, we investigated if default mode network differences in autism are related to specific subnetworks of the default mode network and if these differences change across childhood and adolescence. Our results suggest that the subnetworks of the default mode network are less differentiated in autism in middle childhood compared to neurotypicals. By late adolescence, the default mode network subnetwork organisation was similar in the autistic and neurotypical groups. These findings provide a foundation for future studies to investigate if this developmental pattern relates to improvements in the integration of memory and social understanding as autistic children grow up.
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5. Bervoets J, Hens K. {{Going Beyond the Catch-22 of Autism Diagnosis and Research. The Moral Implications of (Not) Asking « What Is Autism? »}}. {Front Psychol}. 2020; 11: 529193.
Psychiatric diagnoses such as Autism Spectrum Disorder (ASD) are primarily attributed on the basis of behavioral criteria. The aim of most of the biomedical research on ASD is to uncover the underlying mechanisms that lead to or even cause pathological behavior. However, in the philosophical and sociological literature, it has been suggested that autism is also to some extent a ‘social construct’ that cannot merely be reduced to its biological explanation. We show that a one-sided adherence to either a biological or a social explanation leads to a moral dilemma, a Catch-22, for autistics and for those living with them. Such explanations close the space for self-identifying as autistic and at the same time being considered to be in good mental health. They foreclose the possibility of making sense of the lived experience of (and with) autistics. In this paper we argue that such lack of space for moral imagination inherently leads to scientific stalemate. We propose that one can only go beyond this stalemate by taking an ethical stance in theorizing, one that enables better intersubjective understanding. Only on such a view can behavior and biology be linked without either disconnecting them or reducing the one to the other.
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6. Brandenburg C, Soghomonian JJ, Zhang K, Sulkaj I, Randolph B, Kachadoorian M, Blatt GJ. {{Increased Dopamine Type 2 Gene Expression in the Dorsal Striatum in Individuals With Autism Spectrum Disorder Suggests Alterations in Indirect Pathway Signaling and Circuitry}}. {Frontiers in cellular neuroscience}. 2020; 14: 577858.
Autism spectrum disorder (ASD) is behaviorally defined and diagnosed by delayed and/or impeded language, stereotyped repetitive behaviors, and difficulties with social interactions. Additionally, there are disruptions in motor processing, which includes the intent to execute movements, interrupted/inhibited action chain sequences, impaired execution of speech, and repetitive motor behaviors. Cortical loops through basal ganglia (BG) structures are known to play critical roles in the typical functioning of these actions. Specifically, corticostriate projections to the dorsal striatum (caudate and putamen) convey abundant input from motor, cognitive and limbic cortices and subsequently project to other BG structures. Excitatory dopamine (DA) type 1 receptors are predominantly expressed on GABAergic medium spiny neurons (MSNs) in the dorsal striatum as part of the « direct pathway » to GPi and SNpr whereas inhibitory DA type 2 receptors are predominantly expressed on MSNs that primarily project to GPe. This study aimed to better understand how this circuitry may be altered in ASD, especially concerning the neurochemical modulation of GABAergic MSNs within the two major BG pathways. We utilized two classical methods to analyze the postmortem BG in ASD in comparison to neurotypical cases: ligand binding autoradiography to quantify densities of GABA-A, GABA-B, 5-HT(2), and DA type 1 and 2 receptors and in situ hybridization histochemistry (ISHH) to quantify mRNA for D1, D2 receptors and three key GABAergic subunits (α1, β2, and γ2), as well as the GABA synthesizing enzymes (GAD65/67). Results demonstrated significant increases in D2 mRNA within MSNs in both the caudate and putamen, which was further verified by proenkephalin mRNA that is co-expressed with the D2 receptor in the indirect pathway MSNs. In contrast, all other GABAergic, serotonergic and dopaminergic markers in the dorsal striatum had comparable labeling densities. These results indicate alterations in the indirect pathway of the BG, with possible implications for the execution of competing motor programs and E/I imbalance in the direct/indirect motor feedback pathways through thalamic and motor cortical areas. Results also provide insights regarding the efficacy of FDA-approved drugs used to treat individuals with ASD acting on specific DA and 5-HT receptor subtypes.
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7. Busti Ceccarelli S, Ferrante C, Gazzola E, Marzocchi GM, Nobile M, Molteni M, Crippa A. {{Fundamental Motor Skills Intervention for Children with Autism Spectrum Disorder: A 10-Year Narrative Review}}. {Children (Basel, Switzerland)}. 2020; 7(11).
In the past decade, converging evidence has suggested that motor impairment is one of the most consistent markers, alongside sociocommunicative difficulties, for autism spectrum disorder (ASD). Indeed, widespread anomalies of movement have been described in the ASD context. These motor abnormalities could have critical implications for subsequent cognitive and social development. Nevertheless, this area of development is particularly underexamined in the autism-related context, and early intervention programs commonly focus on the core symptoms of the condition. In the present work, we review and discuss the findings from recent studies that investigated the effect of interventions regarding fundamental motor skills in autistic children. Although the limited nature of the literature prevents researchers from drawing definitive conclusions, the results from the studies discussed here demonstrated potentially significant improvements in the motor abilities of autistic children after the interventions. Only a subset of the reviewed studies explored possible changes in the sociocommunicative domain after the motor skills improvements, and they had not concordant, although promising, conclusions. Overall, in consideration of the well-documented motor impairment people with the condition, the present findings highlight the importance of including motor skills training within the rehabilitation programs designed for autistic children. Furthermore, this narrative review encourages future interventional trials to consider motor skills as a possible target for reducing activity limitations and participation restrictions of autistic children.
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8. D’Alò GL, De Crescenzo F, Amato L, Cruciani F, Davoli M, Fulceri F, Minozzi S, Mitrova Z, Morgano GP, Nardocci F, Saulle R, Schünemann HJ, Scattoni ML. {{Acceptability, equity, and feasibility of using antipsychotics in children and adolescents with autism spectrum disorder: a systematic review}}. {BMC Psychiatry}. 2020; 20(1): 561.
BACKGROUND: It is unclear whether the administration of antipsychotics to children and adolescents with autism spectrum disorders (ASD) is acceptable, equitable, and feasible. METHODS: We performed a systematic review to support a multidisciplinary panel in formulating a recommendation on antipsychotics, for the development of the Italian national guidelines for the management of ASD. A comprehensive search strategy was performed to find data related to intervention acceptability, health equity, and implementation feasibility. We used quantitative data from randomized controlled trials to perform a meta-analysis assessing the acceptability and tolerability of antipsychotics, and we estimated the certainty of the effect according to the GRADE approach. We extracted data from systematic reviews, primary studies, and grey literature, and we assessed the risk of bias and methodological quality of the published studies. RESULTS: Antipsychotics were acceptable (dropouts due to any cause: RR 0.61, 95% CI 0.48-0.78, moderate certainty of evidence) and well tolerated (dropouts due to adverse events: RR 0.99, 95% CI 0.55-1.79, low certainty of evidence) by children and adolescents with ASD. Parents and clinicians did not raise significant issues concerning acceptability. We did not find studies reporting evidence of reduced equity for antipsychotics in disadvantaged subgroups of children and adolescents with ASD. Workloads, cost barriers, and inadequate monitoring of metabolic adverse events were indirect evidence of concerns for feasibility. CONCLUSION: Antipsychotics in children and adolescents with ASD were likely acceptable and possibly feasible. We did not find evidence of concern for equity.
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9. Devenish BD, Sivaratnam C, Lindor E, Papadopoulos N, Wilson R, McGillivray J, Rinehart NJ. {{A Brief Report: Community Supportiveness May Facilitate Participation of Children With Autism Spectrum Disorder in Their Community and Reduce Feelings of Isolation in Their Caregivers}}. {Front Psychol}. 2020; 11: 583483.
Children with autism spectrum disorder (ASD) participate at lower rates in their community, and their caregivers experience higher levels of stress, in comparison to families of typically developing (TD) children. The social model of disability positions the environment as the central issue when children with disabilities are unable to participate, yet little is known about the relationship between poor community support, reduced community participation in children with ASD, and caregiver stress. This study examined caregiver perceptions of community supportiveness for the community participation of 48 children with ASD (aged 5-12 years), alongside caregiver-reported child ASD symptom severity, adaptive functioning, and caregiver stress. Community supportiveness predicted child involvement, but not attendance, when child characteristics were held constant. Caregiver perceptions of low community supportiveness significantly predicted caregiver feelings of isolation. The importance of modifying community programs to better support inclusion of children with ASD is discussed.
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10. DiGuiseppi C, Rosenberg SA, Tomcho MA, Colborn K, Hightshoe K, Gutiérrez-Raghunath S, Cordova JM, Dooling-Litfin JK, Rosenberg CR. {{Family navigation to increase evaluation for autism spectrum disorder in toddlers: Screening and Linkage to Services for Autism pragmatic randomized trial}}. {Autism}. 2020: 1362361320974175.
Young children with autism spectrum disorder can benefit from early detection and intervention to moderate autism spectrum disorder’s effect on their development. Routine screening with standardized instruments facilitates early identification. However, many screen-positive children do not receive referrals for evaluation, complete diagnostic evaluations, or engage in services. This is especially true for children of color and those from less educated or low-income families. The Screening and Linkage to Services for Autism trial evaluated the effect of family navigation on referral and evaluation for autism spectrum disorder in screen-positive toddlers. The trial was conducted in an urban, low-income population. It was designed to test « real-world » implementation of family navigation. We randomly assigned 275 children aged 16-30 months with an initial positive autism spectrum disorder screen to receive navigation if indicated or usual care. Navigation increased the number of at-risk toddlers who were evaluated for autism spectrum disorder. It also improved the quality of autism spectrum disorder screening in primary care clinics. However, many children failed to receive indicated referrals for evaluation. Navigation did not improve referral rates. Furthermore, nearly half of families who were potentially eligible for navigation could not be contacted. Other ways of structuring the navigation program may be necessary to improve families’ access to and acceptance of navigation, especially in the setting of financial, cultural, and linguistic barriers. Our trial nevertheless showed that family navigation may be an important tool for reducing systemic inequalities in the early identification and treatment of young children with autism spectrum disorder.
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11. Gevarter C, Groll M, Stone E. {{Dynamic assessment of augmentative alternative and communication application grid formats and communicative targets for children with autism spectrum disorder}}. {Augmentative and alternative communication (Baltimore, Md : 1985)}. 2020: 1-12.
Six children with autism spectrum disorder (ASD) participated in dynamic assessment to determine whether the complexity of grid-based augmentative and alternative communication (AAC) application displays impacted the level of instructional supports needed for responding across different communicative functions/parts of speech. Dynamic assessment was integrated into a single-case multi-element design. The researchers examined the effects of three different display formats that varied in (a) array size, and (b) the number of steps needed to make a response, on the average levels of support needed to make item requests and action/social word responses. Three participants demonstrated high levels of independence when requesting items with displays that utilized small arrays and did not require navigation. These participants also showed rapid increases in their ability to make item requests with displays that required two-step navigation, and began to use action and social words across displays with decreasing levels of support. In comparison, the three remaining participants did not demonstrate consistent independence with any display or communicative function, but did show differences in levels of supports (e.g., overall less support needed for less complex displays and for item requests in comparison to action and social words). Implications for individualized AAC assessment and display selection for children with ASD are discussed.
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12. Haebig E, Jiménez E, Cox CR, Hills TT. {{Characterizing the early vocabulary profiles of preverbal and minimally verbal children with autism spectrum disorder}}. {Autism}. 2020: 1362361320973799.
Although preverbal and minimally verbal children with autism spectrum disorder represent a significant portion of the autism spectrum disorder population, we have a limited understanding of and characterization of them. Although it is a given that their lexical profiles contain fewer words, it is important to determine whether (a) the words preverbal and minimally verbal children with autism spectrum disorder produce are similar to the first words typically developing children produce or (b) there are unique features of the limited words that preverbal and minimally verbal children with autism spectrum disorder produce. The current study compared the early word profiles of preverbal and minimally verbal children with autism spectrum disorder to vocabulary-matched typically developing toddlers. Children with autism spectrum disorder produced proportionally more verbs than typically developing toddlers. Also, children with autism spectrum disorder produced proportionally more action and food words, while typically developing toddlers produced proportionally more animal words, animal sounds and sound effects, and people words. Children with autism spectrum disorder also produced « mommy » and « daddy » at lower rates. Our findings identified several areas of overlap in early word learning; however, our findings also point to differences that may be connected to core weaknesses in social communication (i.e. people words). The findings highlight words and categories that could serve as useful targets for communication intervention with preverbal and minimally verbal children with autism spectrum disorder.
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13. Harris JF, Gorman LP, Doshi A, Swope S, Page SD. {{Development and implementation of health care transition resources for youth with autism spectrum disorders within a primary care medical home}}. {Autism}. 2020: 1362361320974491.
As adolescents become adults, they typically change from seeing a pediatric health care provider to seeing a health care provider who specializes in working with adults. Adolescents with autism spectrum disorder may have more difficulty finding an adult health care provider who is trained to address the varied needs and medical and mental health issues that often are seen with autism spectrum disorder. Without careful planning for transition to adult health care, patients may continue to be seen by pediatric providers who may not be familiar with adult health needs. This quality improvement project focused on improving transition to adult health care by creating varied supports for the patient, family, and the health care team and putting them into action within a pediatric medical practice that serves over 250 adolescent and young adult patients with autism spectrum disorder. Before the supports were put into place, patients and families received limited and inconsistent communication to help them with transition. While the supports helped increase the amount and quality of help patients and families received, medical providers skipped or put off transition discussion in approximately half of well visits for targeted patients. Challenges in implementing the transition process included finding time to discuss transition-related issues with patients/families, preference of medical providers to have social workers discuss transition, and difficulty identifying adult health care providers for patients. This suggests more work is needed to both train and partner with patients, families, and health staff to promote smooth and positive health transitions.
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14. Hathy E, Szabó E, Varga N, Erdei Z, Tordai C, Czehlár B, Baradits M, Jezsó B, Koller J, Nagy L, Molnár MJ, Homolya L, Nemoda Z, Apáti Á, Réthelyi JM. {{Investigation of de novo mutations in a schizophrenia case-parent trio by induced pluripotent stem cell-based in vitro disease modeling: convergence of schizophrenia- and autism-related cellular phenotypes}}. {Stem cell research & therapy}. 2020; 11(1): 504.
BACKGROUND: De novo mutations (DNMs) have been implicated in the etiology of schizophrenia (SZ), a chronic debilitating psychiatric disorder characterized by hallucinations, delusions, cognitive dysfunction, and decreased community functioning. Several DNMs have been identified by examining SZ cases and their unaffected parents; however, in most cases, the biological significance of these mutations remains elusive. To overcome this limitation, we have developed an approach of using induced pluripotent stem cell (iPSC) lines from each member of a SZ case-parent trio, in order to investigate the effects of DNMs in cellular progenies of interest, particularly in dentate gyrus neuronal progenitors. METHODS: We identified a male SZ patient characterized by early disease onset and negative symptoms, who is a carrier of 3 non-synonymous DNMs in genes LRRC7, KHSRP, and KIR2DL1. iPSC lines were generated from his and his parents’ peripheral blood mononuclear cells using Sendai virus-based reprogramming and differentiated into neuronal progenitor cells (NPCs) and hippocampal dentate gyrus granule cells. We used RNASeq to explore transcriptomic differences and calcium (Ca(2+)) imaging, cell proliferation, migration, oxidative stress, and mitochondrial assays to characterize the investigated NPC lines. RESULTS: NPCs derived from the SZ patient exhibited transcriptomic differences related to Wnt signaling, neuronal differentiation, axonal guidance and synaptic function, and decreased Ca(2+) reactivity to glutamate. Moreover, we could observe increased cellular proliferation and alterations in mitochondrial quantity and morphology. CONCLUSIONS: The approach of reprograming case-parent trios represents an opportunity for investigating the molecular effects of disease-causing mutations and comparing these in cell lines with reduced variation in genetic background. Our results are indicative of a partial overlap between schizophrenia and autism-related phenotypes in the investigated family. LIMITATIONS: Our study investigated only one family; therefore, the generalizability of findings is limited. We could not derive iPSCs from two other siblings to test for possible genetic effects in the family that are not driven by DNMs. The transcriptomic and functional assays were limited to the NPC stage, although these variables should also be investigated at the mature neuronal stage.
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15. Ilzarbe D, Lukito S, Moessnang C, O’Daly OG, Lythgoe DJ, Murphy CM, Ashwood K, Stoencheva V, Rubia K, Simonoff E. {{Neural Correlates of Theory of Mind in Autism Spectrum Disorder, Attention-Deficit/Hyperactivity Disorder, and the Comorbid Condition}}. {Frontiers in psychiatry}. 2020; 11: 544482.
Theory of mind (ToM) or mentalizing difficulties is reported in attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), but the mechanism underpinning these apparently shared deficits is relatively unknown. Eighty-three young adult males, 19 with ASD alone, 21 with ADHD alone, 18 with dual diagnosis of ASD and ADHD, and 25 typically developing (TD) controls completed the functional magnetic resonance imaging version of the Frith-Happé animated-triangle ToM task. We compared neural function during ToM with two non-ToM conditions, random and goal directed motions, using whole-brain and region-of-interest analysis of brain activation and functional connectivity analyses. The groups showed comparable ToM task performance. All three clinical groups lacked local connectivity increase shown by TD controls during ToM in the right temporoparietal cortex, a key mentalizing region, with a differentially increased activation pattern in both ASD and comorbid groups relative to ADHD. Both ASD groups also showed reduced connectivity between right inferior lateral prefrontal and posterior cingulate cortices that could reflect an atypical information transmission to the mentalizing network. In contrast, with mentalizing both ADHD groups showed decreasing connectivity between the medial prefrontal and left temporoparietal cortices when compared to TD controls. Therefore, despite the complex pattern of atypical brain function underpinning ToM across the three disorders, some neurofunctional abnormalities during ToM are associated with ASD and appeared differentiable from those associated with ADHD, with the comorbid group displaying combined abnormalities found in each condition.
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16. Jin X, Simmons SK, Guo A, Shetty AS, Ko M, Nguyen L, Jokhi V, Robinson E, Oyler P, Curry N, Deangeli G, Lodato S, Levin JZ, Regev A, Zhang F, Arlotta P. {{In vivo Perturb-Seq reveals neuronal and glial abnormalities associated with autism risk genes}}. {Science (New York, NY)}. 2020; 370(6520).
The number of disease risk genes and loci identified through human genetic studies far outstrips the capacity to systematically study their functions. We applied a scalable genetic screening approach, in vivo Perturb-Seq, to functionally evaluate 35 autism spectrum disorder/neurodevelopmental delay (ASD/ND) de novo loss-of-function risk genes. Using CRISPR-Cas9, we introduced frameshift mutations in these risk genes in pools, within the developing mouse brain in utero, followed by single-cell RNA-sequencing of perturbed cells in the postnatal brain. We identified cell type-specific and evolutionarily conserved gene modules from both neuronal and glial cell classes. Recurrent gene modules and cell types are affected across this cohort of perturbations, representing key cellular effects across sets of ASD/ND risk genes. In vivo Perturb-Seq allows us to investigate how diverse mutations affect cell types and states in the developing organism.
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17. Kelly E, Ochoa Escamilla C, Tsai PT. {{Cerebellar dysfunction in autism spectrum disorders: deriving mechanistic insights from an internal model framework}}. {Neuroscience}. 2020.
Autism spectrum disorders (ASD) are highly prevalent neurodevelopmental disorders; however, the neurobiological mechanisms underlying disordered behavior in ASD remain poorly understood. Notably, individuals with ASD have demonstrated difficulties generating implicitly derived behavioral predictions and adaptations. Although many brain regions are involved in these processes, the cerebellum contributes an outsized role to these behavioral functions. Consistent with this prominent role, cerebellar dysfunction has been increasingly implicated in ASD. In this review, we will utilize the foundational, theoretical contributions of the late neuroscientist Masao Ito to establish an internal model framework for the cerebellar contribution to ASD-relevant behavioral predictions and adaptations. Additionally, we will also explore and then apply his key experimental contributions towards an improved, mechanistic understanding of the contribution of cerebellar dysfunction to ASD.
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18. Kim KM, Lee CE. {{Internet use among adults with intellectual and developmental disabilities in South Korea}}. {J Appl Res Intellect Disabil}. 2020.
BACKGROUND: It is evident that people with disabilities worldwide face digital divide; although this divide has been mitigated owing to greater access to technologies, a gap remains in terms of Internet use. Given that South Korea has one of the highest Internet access rates, it is necessary to examine how adults with intellectual and developmental disabilities (IDD) access the Internet, and what correlates with Internet usage. METHOD: A total of 298 adults with IDD in South Korea participated in the survey. RESULTS: The participants reported benefits from the Internet including increased opportunities for leisure and entertainment, updated news and networking with friends. Internet access was found to be pervasive among people of younger ages and less severe disabilities. Further, Internet usage corresponded to material access, digital literacy and a positive attitude towards digital applications. CONCLUSIONS: Targeted digital literacy programmes can be developed for adults with IDD.
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19. Kuter B, Uzel I. {{Evaluation of oral health status and oral disorders of children with autism spectrum disorders by gender}}. {Archives de pediatrie : organe officiel de la Societe francaise de pediatrie}. 2020.
AIM: The aim of this study was to evaluate whether there is a relationship between gender and oral health status of children with autism spectrum disorders (CASD). MATERIAL-METHODS: The study was carried out with 348 children. The children were separated into two groups to evaluate the prevalence of caries and to assess oral disorders in terms of gender. The following factors were evaluated: mean dmft (decayed missed filled permanent tooth in primary dentition), mean DMFT (decayed missed filled permanent tooth in permanent dentition), plaque index, caries prevalence scores, dental crowding, open bite, deep palate, drooling of saliva, tongue thrusting habit, bruxism, dental and soft tissue trauma, tooth wear, delayed eruption, and hypodontia. RESULTS: The results showed that the mean dmft in boys with CASD (BCASD) was lower than the mean dmft in healthy boys. The mean dmft of the girls with CASD (GCASD) was also lower than that of the healthy girls. The prevalence of dental caries and mean DMFT in GCASD were higher than those of BCASD in permanent dentition. While the plaque index value of BCASD was higher than that of healthy boys, the plaque index value of GCASD was lower than that of healthy girls. The plaque index value of BCASD was higher than that of GCASD. GCASD were reported to have significantly more bruxism than their healthy counterparts. However, no statistically significant difference was found between BCASD and healthy boys regarding bruxism. Moreover, there was no significant difference between BCASD and GCASD in terms of bruxism. Drooling of saliva in BCASD was less than GCASD. CONCLUSION: There were significant gender differences between CASD and healthy children in terms of dental caries and oral disorders in this study. There were also significant differences regarding dental caries and oral disorders between GCASD and BCASD.
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20. Landes SD, McDonald KE, Wilmoth JM, Carter Grosso E. {{Evidence of continued reduction in the age-at-death disparity between adults with and without intellectual and/or developmental disabilities}}. {J Appl Res Intellect Disabil}. 2020.
BACKGROUND: This study examines recent trends in the age-at-death disparity between adults with and without intellectual and/or developmental disabilities in the United States. METHOD: Data were from the 2005-2017 U.S. death certificates. Average age at death was compared between adults whose death certificate did or did not report an intellectual and/or developmental disability. RESULTS: Age at death increased minimally for adults without, but markedly for adults with intellectual and/or developmental disabilities. As a result, the age-at-death disparity decreased: 2.2 years between adults with/without intellectual disability; 1.9 years between adults with/without Down syndrome; 2.7 years between adults with/without cerebral palsy; and 5.1 years between adults with/without rare developmental disabilities. CONCLUSION: Evidence from this study demonstrates that the age-at-death disparity between adults who did or did not have an intellectual and/or developmental disability reported on their death certificate continues to decrease, but the magnitude of the remaining disparity varied considerably by type of disability.
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21. Li C, Liu Y, Fang H, Chen Y, Weng J, Zhai M, Xiao T, Ke X. {{Study on Aberrant Eating Behaviors, Food Intolerance, and Stereotyped Behaviors in Autism Spectrum Disorder}}. {Frontiers in psychiatry}. 2020; 11: 493695.
Objective: To investigate the aberrant eating behaviors (EBs), gastrointestinal (GI) symptoms, and food intolerance in children with autism spectrum disorder (ASD) and their association with clinical core symptoms of ASD. Method: A total of 94 preschool children with ASD treated at the Child Mental Health Research Center of Nanjing Brain Hospital between October 2016 and April 2018 were enrolled. In addition, 90 children with typical development (TD) in the community during the same period were recruited. The conditions of aberrant EBs and GI symptoms in children were investigated using questionnaire surveys. Serum specific IgG antibodies against 14 kinds of food were detected using enzyme-linked immunosorbent assays (ELISAs). Results: The detection rate of aberrant EBs in the ASD group was significantly higher than that in the TD group (67.39 vs. 34.94%), and the rate of GI symptoms was also higher in the ASD group than that in the TD group (80.22 vs. 42.11%). Detection of food intolerance in children with ASD showed that the positive rate was 89.89% and that the majority of children had multiple food intolerances. The correlation analysis results showed that the severity of aberrant EBs positively correlated with stereotyped behavior of children with ASD (r = 0.21, P = 0.04) and that food-specific IgG antibodies concentrations positively correlated with high-level stereotyped behavior in children with ASD (r = 0.23, P = 0.03). Conclusion: ASD with aberrant EBs or high food-specific IgG antibodies concentrations had more severe stereotyped behavior, which may have implications for exploring the immune mechanism of ASD. Clinical Trial Registration: ChiCTR-RPC-16008139.
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22. Li HH, Wang CX, Feng JY, Wang B, Li CL, Jia FY. {{A Developmental Profile of Children With Autism Spectrum Disorder in China Using the Griffiths Mental Development Scales}}. {Front Psychol}. 2020; 11: 570923.
The purpose of this study was to profile the mental development of children aged 18 to 96 months with autism spectrum disorder (ASD) using the Chinese version of the Griffiths Mental Development Scales (GMDS), and to explore the relationships between developmental levels and ASD severity, the sex of the child and the age of ASD diagnosis. Children with ASD (n = 398; 337 boys, 61 girls) were recruited and ASD severity evaluated using the Autism Behavior Checklist and the Childhood Autism Rating Scale, while the GMDS was used to evaluate the children’s mental development. Study participants were divided into groups according to GMDS general and subscale quotients, ASD severity, sex, and age. The majority of groups divided according to the GMDS quotients exhibited an unbalanced distribution in respect of the six domains of the GMDS and there were significant differences within the six subscale quotients. Autism severity, sex and age had significant effects on the overall level of development of autistic children. The quotients recorded for the children with more severe ASD were significantly lower than those for the children with less severe ASD. A markedly higher proportion of developmental delay was recorded for girls than boys in relation to the performance subscale. The locomotor quotient decreased in line with age at diagnosis, while autism severity and age had significant effects on the general and subscale quotients and sex had a significant effect on performance quotient. Children with ASD exhibit an uneven cognitive development profile, and their overall developmental levels are affected by autism severity, sex and age. Specific cognitive domains differ according to sex in children with ASD. Locomotor skills tend to decrease according to the age at diagnosis for autistic children aged 18 to 84 months. Autism severity and age are also associated with the level of functioning in different cognitive areas. These findings contribute to define the cognitive developmental profiles of children with ASD.
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23. MacLachlan M. {{Commentary: Challenges and opportunities in autism assessment – a commentary on Kannes and Bishop (2020)}}. {J Child Psychol Psychiatry}. 2020.
Kannes and Bishop’s (2020) Editorial Perspective ‘The Autism waitlist crisis and remembering what families need’ offers a strong argument to provide greater access to high-quality assessments for Autism Spectrum Disorder (ASD). They note, correctly, that due to increasing numbers of referrals practitioners are under increasing pressure to provide quicker or abbreviated evaluations, that some cases are extremely complex and require considerable expertise to assess, and that a good assessment is a good investment in effective intervention. I agree with these points but also want to highlight some difficulties and dilemmas associated with the assessment of ASD; and to argue that improving access to assessments and interventions through the use of nonspecialists and new technologies may be a promising direction.
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24. Mussap M, Siracusano M, Noto A, Fattuoni C, Riccioni A, Rajula HSR, Fanos V, Curatolo P, Barberini L, Mazzone L. {{The Urine Metabolome of Young Autistic Children Correlates with Their Clinical Profile Severity}}. {Metabolites}. 2020; 10(11).
Autism diagnosis is moving from the identification of common inherited genetic variants to a systems biology approach. The aims of the study were to explore metabolic perturbations in autism, to investigate whether the severity of autism core symptoms may be associated with specific metabolic signatures; and to examine whether the urine metabolome discriminates severe from mild-to-moderate restricted, repetitive, and stereotyped behaviors. We enrolled 57 children aged 2-11 years; thirty-one with idiopathic autism and twenty-six neurotypical (NT), matched for age and ethnicity. The urine metabolome was investigated by gas chromatography-mass spectrometry (GC-MS). The urinary metabolome of autistic children was largely distinguishable from that of NT children; food selectivity induced further significant metabolic differences. Severe autism spectrum disorder core deficits were marked by high levels of metabolites resulting from diet, gut dysbiosis, oxidative stress, tryptophan metabolism, mitochondrial dysfunction. The hierarchical clustering algorithm generated two metabolic clusters in autistic children: 85-90% of children with mild-to-moderate abnormal behaviors fell in cluster II. Our results open up new perspectives for the more general understanding of the correlation between the clinical phenotype of autistic children and their urine metabolome. Adipic acid, palmitic acid, and 3-(3-hydroxyphenyl)-3-hydroxypropanoic acid can be proposed as candidate biomarkers of autism severity.
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25. Pennington RC, Bross LA, Mazzotti VL, Spooner F, Harris R. {{A Review of Developing Communication Skills for Students with Intellectual and Developmental Disabilities on College Campuses}}. {Behav Modif}. 2020: 145445520976650.
In the current investigation, we reviewed the literature on communication interventions for individuals with intellectual and developmental disabilities (IDD) on college campuses. Eight studies met our inclusion criteria. Data were extracted related to participant demographics (e.g., disability, response form, type of postsecondary program) and study variables (e.g., design, settings, intervention). We evaluated the methodological quality of each study using the National Technical Assistance Center on Transition’s Quality Indicator Checklist for single-case design studies. Results indicated a dearth of literature in this critical area and that extant literature reflected a primary research emphasis on the use of multi-component packages to teach communication skills to students with mild or no intellectual disability. Limitations and implications for research and practice for transition professionals and university campus providers are discussed.
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26. Pizur-Barnekow K, Lang AC, Barger B. {{Short report: Development and utility of the Family-Centered Autism Navigation interview}}. {Autism}. 2020: 1362361320972890.
When a parent learns of their child’s autism diagnosis, they may be overwhelmed, confused, and frustrated. Family navigation services are designed to improve access to care. While these services are a promising intervention to enhance well-being and developmental outcomes, there are limited tools that can systematically facilitate the development of a shared navigation plan that prioritizes the concerns of the family. The Family-Centered Autism Navigation semi-structured interview guide is designed for family navigators to triage and prioritize caregiver’s needs to coordinate and navigate systems of care after learning of their child’s autism spectrum disorder diagnosis. The goals of the Family-Centered Autism Navigation interview are to (1) identify family and child strengths; (2) identify family/caregiver concerns regarding navigation of services and systems following their child’s diagnosis of autism; (3) measure change in caregiver knowledge, ability and skill as it relates to understanding, remembering, and evaluating information they receive; and (4) assist with the development of a shared navigation plan. When using the Family-Centered Autism Navigation guide, family navigators and caregivers co-create a family-centered, prioritized action plan that supports and prepares caregivers as they navigate systems of care. This short report describes the development process of the Family-Centered Autism Navigation semi-structured interview guide. We utilized brief interviews (n = 42), expert feedback (n = 13), and quality improvement strategies (n = 2 family navigators) to develop the questions and determine the usability of the Family-Centered Autism Navigation interview in practice.
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27. Putney JM, Greenlee JL, Hartley SL. {{Use and Benefit of Dyadic Coping for Couple Relationship Satisfaction in Parents of Children with Autism}}. {Family process}. 2020.
Parents of children with autism spectrum disorder (ASD) are at increased risk for unsatisfying and conflict-ridden couple relationships (i.e., marital or romantic partner relationships). There is a critical need to identify the couple-level processes that contribute to this risk. The current study examined the use of dyadic coping, defined as the appraisals and behaviors that partners in relationships use and receive to manage stressors, and to examine whether dyadic coping mediated the association between parenting stress and couple relationship satisfaction in parents who have a child with ASD and in parents who do not have a child with ASD. In total, 184 couples that had a child with ASD (aged 5-12 years) and comparison group of 183 couples who have a child without a neurodevelopmental condition participated in the study. A multivariate analysis of covariance indicated that parents of children with ASD reported less positive and more negative dyadic coping than did parents in the comparison group. Hierarchical linear modeling indicated that dyadic coping mediated the association between parenting stress and couple relationship satisfaction. Findings have important implications for programs aimed at enhancing parent couple relationship in families of children with ASD.
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28. Rebbe R, Brown SE, Matter RA, Mienko JA. {{Prevalence of Births and Interactions with Child Protective Services of Children Born to Mothers Diagnosed with an Intellectual and/or Developmental Disability}}. {Maternal and child health journal}. 2020.
OBJECTIVES: Concerns have been raised that parents with intellectual and/or developmental disabilities (IDD) interact with child protective services (CPS) at disproportionate rates than the general population as a result of bias and discrimination. However, there has been little empirical evidence to ascertain if these concerns are grounded. This study’s objectives were to identify (a) the prevalence and sociodemographic characteristics of children born to mothers diagnosed with IDD diagnoses, (b) how many of these children interact with CPS (reports and removals) and (c) when these CPS interactions are occurring. METHODS: The dataset was comprised of linked administrative birth, hospital discharge, and CPS records for all children born in one U.S. state between 1999 and 2013 (N = 1,271,419). CPS records were available through the first quarter of 2018 and CPS reports and removals at the child’s first and fourth birthdays were identified. We conducted chi-square tests and multivariate survival Cox regression models. RESULTS: A total of 567 children were identified as born to mothers with IDD diagnoses, which is 4.5 per 10,000 births. Of these children, 21.7% were the subject of a CPS report within 1 year and 35.8% within 4 years. In terms of removals, 6.5% experienced removals by 1 year and 8.6% by 4 years. CONCLUSIONS FOR PRACTICE: This study provides population-based knowledge about how and when the children born to mothers diagnosed with IDD interact with CPS. These children have higher rates of CPS interactions than the general population, but these rates are not as high as previously reported.
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29. Rosenbrock GJ, Mire SS, Kim HJ, Aguirre-Munoz Z. {{Exploring sociodemographic predictors of parents’ perceptions about their children’s autism and their families’ adjustment}}. {Res Dev Disabil}. 2020; 108: 103811.
BACKGROUND: Diagnostic and treatment disparities exist among sociodemographically diverse families with autism spectrum disorder (ASD). These disparities may be partially explained by the lack of information researchers and providers have regarding the unique experiences of diverse populations. AIMS: This study aimed to explore sociodemographic predictors of parents’ perceptions about their children’s ASD and families’ adjustment. METHODS: Hierarchical linear regression analyses were conducted to explore whether sociodemographic factors predicted aspects of parent’s perceptions and family adjustment among 363 parents of children and adolescents with ASD. RESULTS: Parents’ race/ethnicity, education level, and annual household income predicted their beliefs that they or treatment could be helpful in controlling their children’s ASD symptoms; their understanding of ASD; their experiences of emotional distress; their involvement in resources of support; and their families’ ability to manage stress. CONCLUSION: Our results demonstrate the importance of considering the complexity of families’ demographic characteristics when working to support families with ASD. Parents’ unique characteristics and experiences influence their perceptions about their children’s ASD diagnosis and their families’ ability to adjust to life raising children with ASD. Research extending this work is a critical step in dismantling ASD diagnostic and treatment disparities.
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30. Russell KM, Ingersoll B. {{Factors related to parental therapeutic self-efficacy in a parent-mediated intervention for children with autism spectrum disorder: A mixed methods study}}. {Autism}. 2020: 1362361320974233.
Parental self-efficacy refers to parents’ beliefs in their ability to successfully parent their child. Parental self-efficacy plays an important role in family outcomes when a child has autism spectrum disorder. It is important to consider therapeutic self-efficacy, one’s feelings of self-efficacy regarding their implementation of an intervention, within parent-mediated interventions. The goal of this mixed methods study was to better understand factors that relate to parents’ therapeutic self-efficacy when using a telehealth-based parent-mediated intervention. Participants were 51 parents of children with autism spectrum disorder between 17 and 83 months old. Parents had generally high therapeutic self-efficacy, and global parental self-efficacy was significantly related therapeutic self-efficacy. Parents’ written reflections revealed four themes that related to their therapeutic self-efficacy: the importance of a good fit between the child’s skills and the intervention, the importance of a good fit between the parent’s interaction style and the intervention, environmental factors support intervention use, and the importance of the child’s response to the intervention. Several themes differed for parents with higher and lower therapeutic self-efficacy. Findings suggest that global parental self-efficacy plays an important role in parental therapeutic self-efficacy in parent-mediated interventions. To support parents in learning, coaches should ask about the child’s skills, parent’s interaction style, environmental challenges, and child’s response.
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31. Samadi SA, McConkey R, Mahmoodizadeh A. {{Identifying children with autism spectrum disorders in Iran using the Autism Diagnostic Interview-Revised}}. {Autism}. 2020: 1362361320974558.
The diagnosis of autism spectrum disorder is a challenging task. Most of the current assessment scales have been developed in the West. The present study examines the applicability of one of the most used scales (the Autism Diagnostic Interview-Revised) in a Middle-Eastern culture. Two studies were undertaken. In the first, the Autism Diagnostic Interview-Revised ratings given to 420 children with autism spectrum disorder, aged 4-11 years, and 110 typically developing children were contrasted. In Study 2, the Autism Diagnostic Interview-Revised ratings of 720 children with autism spectrum disorder were compared with those of 172 children with intellectual disabilities to find out whether the Autism Diagnostic Interview-Revised scale would discriminate between these two types of developmental disabilities. The studies confirmed the acceptability of the scale to Iranian parents and assessors. However, the summary scores used to determine whether a child was likely to have autism spectrum disorder were recalculated on the two domains of social communication and repetitive behaviours, which were identified in the statistical analyses that are recommended for the evaluation of assessment scales. Thus the translated scale with the modified domain scoring proved very suitable for identifying Iranian children with autism spectrum disorder. Having a common tool such as Autism Diagnostic Interview-Revised will strengthen the opportunities to undertake cross-cultural research into the impact of autism spectrum disorder on the child and families.
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32. Sharaan S, Fletcher-Watson S, MacPherson SE. {{The Impact of Bilingualism on the Executive Functions of Autistic Children: A Study of English-Arabic Children}}. {Autism Res}. 2020.
There is evidence to suggest that certain executive functions are impaired in autistic children, contributing to many daily challenges. Regular use of two languages has the potential to positively influence executive functions, though evidence is mixed. Little is known about the impact of bilingualism on the executive functions of autistic children, with only a handful of studies published worldwide to date. This study investigated the impact of bilingualism on sustained attention, interference control, flexible switching and working memory, in Arabic-English autistic children (n = 27) and their typically developing peers (n = 66), aged 5-12 years old. Groups were matched on age, nonverbal IQ and socioeconomic status, and completed a battery of computerized tests. Results showed an advantage for bilingual autistic children relative to their monolingual peers in sustained attention, and equivalent performance between bilingual and monolingual autistic children on all other executive functions. There were no generalized positive effects of bilingualism, and typically-developing children performed better than autistic children on all measures. The findings indicate that bilingualism does not negatively impact the executive function skills of autistic children, and that it might mitigate difficulties in sustained attention. LAY SUMMARY: Contrary to widespread belief, but in line with previous research, this study showed that speaking two languages did not harm thinking skills in autistic children. The thinking skills evaluated in this study included the ability to focus over a period of time, the ability to resist distractions, the ability to move back and forth between tasks, and the ability to use short-term memory. In fact, speaking two languages might help reduce difficulties that autistic children might face when focusing over a period of time.
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33. Sivaraman M, Virues-Ortega J, Roeyers H. {{Telehealth mask wearing training for children with autism during the COVID-19 pandemic}}. {Journal of applied behavior analysis}. 2020.
SARS-CoV-2 is the virus causing COVID-19 and is spread through close person-to-person contact. The use of face masks has been described as an important strategy to slow its transmission. We evaluated the effects of coaching caregivers via telehealth technologies to teach face mask wearing to children with autism spectrum disorder. Six participants with a history of challenging behavior associated with mask wearing were recruited from different parts of the world, and trained using graduated exposure, shaping, and contingent reinforcement. By the end of the intervention, all participants wore a face mask for a period of 10 min without exhibiting challenging behavior. The skills generalized to a novel mask or a community setting. Mask wearing did not affect the percentage of oxyhemoglobin saturation of participants, and caregivers found the intervention useful. The findings support previous tolerance training treatment evaluations in children with developmental disorders exhibiting resistance to healthcare routines.
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34. Stark I, Liao P, Magnusson C, Lundberg M, Rai D, Lager A, Idring Nordström S. {{Qualification for upper secondary education in individuals with autism without intellectual disability: Total population study, Stockholm, Sweden}}. {Autism}. 2020: 1362361320975929.
Obtaining a quality education is important for any individual’s chances of leading a healthy and thriving life. Currently, educational policies in many countries underscore the rights of students with autism to be educated in mainstream schools. While there is some knowledge on school outcomes among students with autism from older studies, little is known about rates of qualification for upper secondary education among children with autism in mainstream schools today. This lack of knowledge is problematic since autism is diagnosed more widely, and prior evidence may not be relevant for individuals with autism and their families today. Using Swedish registers, we therefore examined this in a study including all children and young people in Stockholm County in 2001 through 2011. We found that about two thirds of children with autism without intellectual disability qualified for upper secondary education at the expected age, in comparison with about nine in ten among typically developing peers. We also found that girls with autism had further difficulties obtaining such qualification than boys and that those who were additionally diagnosed with attention-deficit hyperactivity disorder were particularly at risk of non-qualification. Finally, students with autism without intellectual disability had a greater chance of completing compulsory education if given an extended period to graduate. These findings underline the need for supportive interventions for children with autism during compulsory school. They may also challenge the inclusive education policy adopted by majority of western countries, at least in the wake of addressing special needs in mainstream schooling.
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35. Tanksale R, Sofronoff K, Sheffield J, Gilmour J. {{Evaluating the effects of a yoga-based program integrated with third-wave cognitive behavioral therapy components on self-regulation in children on the autism spectrum: A pilot randomized controlled trial}}. {Autism}. 2020: 1362361320974841.
Children on the autism spectrum may experience difficulties with the regulation of attention, thoughts, emotions, and behavior, understanding, and expressing their emotions appropriately, as well as anxiety, and sleep. In autism research, contemplative practices that work through both body and mind have shown tentatively promising results. However, there are limited studies on this topic, and the use of yoga to facilitate executive control has not been researched yet. The Incredible Explorers (6-week program), a yoga-informed intervention program for children (8-12 years), was developed to understand whether, for children on the autism spectrum, the training could improve the ability to self-regulate, reduce anxiety and sleep problems, and increase awareness of emotions. In our sample, 61 children with one of their parents completed the program. Half of the group received the intervention, and the other half had to wait until the yoga group completed their trial. The participants were asked to give their feedback immediately after program completion and at 6-week follow-up. Compared to the group that was waiting to receive the intervention, parents in the yoga group reported significant gains for their children in regulating their overall executive control immediately after the session and again at follow-up. The parents reported a reduction in some of the sleep problems post-treatment. Children indicated an improved ability to communicate their feelings and willingness to analyze their emotions post-intervention. However, the study had several shortcomings and given that this was the first trial of the program, the results need to be interpreted with caution. Further research is recommended.
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36. Tiner S, Cunningham GB, Pittman A. {{« Physical activity is beneficial to anyone, including those with ASD »: Antecedents of nurses recommending physical activity for people with autism spectrum disorder}}. {Autism}. 2020: 1362361320970082.
Participation in regular physical activity is linked with physical, psychological, and social improvements. Nevertheless, persons with autism spectrum disorder participate at lower levels than do their peers. Nurses can play a key role in helping to promote such behaviors, but do so sparingly. The purpose of this study is to examine the degree to which nurses recommend physical activity to people with autism spectrum disorder. Even though a number of scholars have examined the role of health professionals in promoting physical activity, comparatively little research has examined nurses. Further, previous scholars have largely focused on the promotion of physical activity to patients in general. However, people with disabilities and people with autism spectrum disorder, specifically, are frequently overlooked when it comes to physical activity promotion. Data were collected from a representative sample of nurses (n = 180) working in the United States. Results indicate that nurses were only moderately likely to recommend physical activity. When perceived barriers were low, perceived benefits held a positive, significant association with recommendations. However, when perceived barriers were high, the relationship between perceived benefits and recommendations was no longer significant. Analysis of qualitative data showed the value nurses place on physical activity, how they interpret barriers and benefits, and strategies for making physical activity inclusive for people with autism spectrum disorder. In conclusion, nurses have an opportunity to more frequently promote physical activity to their patients with autism spectrum disorder and, in doing so, help mitigate some of the poor health outcomes people with autism spectrum disorder experience. The authors identified implications for nursing education and professional development, as well as for sport and recreation managers charged with delivering physical activity to people with autism spectrum disorder.
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37. Tsai CH, Chen KL, Li HJ, Chen KH, Hsu CW, Lu CH, Hsieh KY, Huang CY. {{The symptoms of autism including social communication deficits and repetitive and restricted behaviors are associated with different emotional and behavioral problems}}. {Sci Rep}. 2020; 10(1): 20509.
The aim of the study was to investigate the associations between symptoms of autism and emotional and behavioral problems in children with autism spectrum disorder from both caregivers’ and clinicians’ perspectives. Three main findings were found in our study. First, the association patterns were similar in the preschool and school-aged children. Second, different association patterns were found from caregivers’ and professionals’ perspectives. From the professionals’ perspective, only repetitive behaviors were associated with behavioral problems, while from the caregivers’ perspective, all symptoms of autism were associated with emotional and behavioral problems. Third, different types of symptoms of autism were associated with different types of emotional and behavioral problems. For example, from the professionals’ perspective, restricted and repetitive behaviors were only associated with hyperactivity and inattention. From the caregivers’ perspective, social emotion was associated with emotional symptoms, and other symptoms of autism were associated with hyperactivity and inattention, as well as with peer problems. The results of our study provided deeper understanding of the relationships between symptoms of autism and emotional and behavioral problems, and the findings could serve as a reference for intervention planning when clinicians approach children with autism spectrum disorder.
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38. Ünsel Bolat G. {{Case report: diagnosis and treatment of attention deficit hyperactivity disorder and autism spectrum disorder in patients diagnosed with oculocutaneous albinism}}. {Neurocase}. 2020: 1-4.
Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by impairment in the melanin synthesis. We report two siblings with OCA who presented with symptoms of autism spectrum disorder and attention deficit hyperactivity disorder (ADHD). Ocular side effects occured after methylphenidate (MPH) treatment in the patient with ADHD and OCA. The diagnosis of OCA has been associated with difficulties in academic and social fields due to decreased visual activity and differentiation of phenotypic characteristics. Delayed diagnosis of comorbid neuropsychiatric disorders and MPH therapy may increase these difficulties. Patients with OCA require careful evaluation and treatment for neuropsychiatric disorders.
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39. Vanwong N, Ngamsamut N, Nuntamool N, Hongkaew Y, Sukprasong R, Puangpetch A, Limsila P, Sukasem C. {{Risperidone-Induced Obesity in Children and Adolescents With Autism Spectrum Disorder: Genetic and Clinical Risk Factors}}. {Frontiers in pharmacology}. 2020; 11: 565074.
Aims: Obesity is a significant problem for patients taking atypical antipsychotics. There were two aims of our study. The first aim was to compare the prevalence of overweight and obesity between children and adolescents with autism spectrum disorder (ASD) treated with risperidone with the general pediatric population. The second aim was to investigate the association of the HTR2C -759C>T, ABCB1 1236C>T, ABCB1 2677G>T/A, and ABCB1 3435C>T polymorphisms with risperidone-induced overweight and obesity in children and adolescents with ASD. Methods: Body weight and height were measured in 134 subjects. Overweight and obesity in children and adolescents were classified using the International Obesity Task Force (IOTF) criteria. Genotyping was performed by TaqMan real-time polymerase chain reaction (PCR). Results: Our study found that the prevalence of overweight and obesity was significantly higher in children and adolescents with ASD treated with risperidone compared with healthy individuals (p = 0.01 and p = 0.002). The genetic polymorphisms of HTR2C -759C>T, ABCB1 1236C>T, ABCB1 2677G>T/A, and ABCB1 3435C>T were not associated with overweight/obesity in children and adolescents with ASD treated with risperidone after adjustment for multiple comparisons by the method of Bonferroni. Additionally, haplotype analysis revealed that there was no significant association between ABCB1 3435T-2677T/A-1236T haplotype and overweight/obesity. In multivariate logistic regression, after adjustment by the Bonferroni correction, there was only the duration of risperidone treatment that was significantly associated with overweight/obesity in children and adolescents with ASD. Conclusions: The findings suggest that children and adolescents with ASD treated with risperidone are at a higher risk of obesity, especially patients with extended treatment with risperidone. For the pharmacogenetic factors, -759C>T polymorphism of HTR2C gene and 1236C>T, 2677G>T/A, and 3435C>T polymorphisms of ABCB1 gene were not likely to be associated with the susceptibility to overweight/obesity in children and adolescents treated with risperidone. Due to the small sample size, further studies with a larger independent group are needed to confirm these findings.
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40. Veatch OJ, Butler MG, Elsea SH, Malow BA, Sutcliffe JS, Moore JH. {{An Automated Functional Annotation Pipeline That Rapidly Prioritizes Clinically Relevant Genes for Autism Spectrum Disorder}}. {International journal of molecular sciences}. 2020; 21(23).
Human genetic studies have implicated more than a hundred genes in Autism Spectrum Disorder (ASD). Understanding how variation in implicated genes influence expression of co-occurring conditions and drug response can inform more effective, personalized approaches for treatment of individuals with ASD. Rapidly translating this information into the clinic requires efficient algorithms to sort through the myriad of genes implicated by rare gene-damaging single nucleotide and copy number variants, and common variation detected in genome-wide association studies (GWAS). To pinpoint genes that are more likely to have clinically relevant variants, we developed a functional annotation pipeline. We defined clinical relevance in this project as any ASD associated gene with evidence indicating a patient may have a complex, co-occurring condition that requires direct intervention (e.g., sleep and gastrointestinal disturbances, attention deficit hyperactivity, anxiety, seizures, depression), or is relevant to drug development and/or approaches to maximizing efficacy and minimizing adverse events (i.e., pharmacogenomics). Starting with a list of all candidate genes implicated in all manifestations of ASD (i.e., idiopathic and syndromic), this pipeline uses databases that represent multiple lines of evidence to identify genes: (1) expressed in the human brain, (2) involved in ASD-relevant biological processes and resulting in analogous phenotypes in mice, (3) whose products are targeted by approved pharmaceutical compounds or possessing pharmacogenetic variation and (4) whose products directly interact with those of genes with variants recommended to be tested for by the American College of Medical Genetics (ACMG). Compared with 1000 gene sets, each with a random selection of human protein coding genes, more genes in the ASD set were annotated for each category evaluated (p ≤ 1.99 × 10(-2)). Of the 956 ASD-implicated genes in the full set, 18 were flagged based on evidence in all categories. Fewer genes from randomly drawn sets were annotated in all categories (x = 8.02, sd = 2.56, p = 7.75 × 10(-4)). Notably, none of the prioritized genes are represented among the 59 genes compiled by the ACMG, and 78% had a pathogenic or likely pathogenic variant in ClinVar. Results from this work should rapidly prioritize potentially actionable results from genetic studies and, in turn, inform future work toward clinical decision support for personalized care based on genetic testing.
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41. West R, Silverman MJ. {{Social Skills Instruments for Children with Autism Spectrum Disorder: A Critical Interpretive Synthesis}}. {Journal of music therapy}. 2020.
Identifying and critically analyzing the most frequently used social skills psychometric instruments (SSPI) for children with autism spectrum disorder (ASD) can inform future music therapy research and clinical practice. Therefore, the initial purpose of this critical interpretive synthesis was to identify the SSPI most frequently used as dependent measures in the Journal of Autism and Developmental Disorders (JADD) for children with ASD from 2012 to 2018. Results indicated that the Social Responsiveness Scale (n = 35), Autism Diagnostic Observation Schedule (n = 19), and Vineland Adaptive Behavior Scales (n = 15) were the most frequently used instruments. Congruent with critical interpretive synthesis methodology, we then identified the psychometric properties and advantages and disadvantages of the 9 most commonly used instruments. To compare these results with the existing music therapy literature, we also identified nonmusical SSPI used as dependent measures in music therapy research for children with ASD in studies published between 2012 and 2018. In comparing the data sets, music therapy researchers used 5 of the 9 SSPI we identified from our JADD review. Understanding frequently used SSPI has applications for consultation and communication with other professionals as well as how future music therapy research is conducted. Implications for clinical practice, limitations of the study, and suggestions for future research are provided.
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42. Wu CC, Chiang CH, Chu CL, Iao LS, Hou YM. {{T-STAT for detecting autism spectrum disorder in toddlers aged 18-24 months}}. {Autism}. 2020: 1362361320972300.
The benefits of early intervention for young children with autism spectrum disorder highlight the importance of early diagnosis. Reliable diagnoses of autism spectrum disorder can be made before 24 months of age. However, many children are diagnosed with autism spectrum disorder at a later age. Delayed diagnosis can occur for children with less severe symptoms and lead to missed opportunities for early intervention. This current study was executed to examine the Taiwanese version of the Screening Tool for Autism in Two-Year-Olds in detecting autism spectrum disorder in toddlers between 18 and 24 months of age. One strength of this study was the inclusion of toddlers with autism spectrum disorder or mild-autism spectrum disorder using the strict and relaxed Diagnostic and Statistical Manual of Mental Disorders (5th ed.) criteria for autism spectrum disorder simultaneously. The results of this study supported that diagnosis of toddlers with autism spectrum disorder could be made reliable before 24 months of age. And the Taiwanese version of the Screening Tool for Autism in Two-Year-Olds was a Level 2 autism-specific screening tool for toddlers aged from 18 to 24 months in Taiwan.
