Pubmed du 08/03/21
1. Abadir CM, DeBar RM, Vladescu JC, Reeve SA, Kupferman DM. Effects of video modeling on abduction-prevention skills by individuals with autism spectrum disorder. Journal of applied behavior analysis. 2021.
Deficits in safety skills and communication place individuals with autism spectrum disorder (ASD) at risk of danger. Abduction prevention remains an understudied area. Video modeling has proven to be effective in some research on teaching safety skills to individuals with ASD. Existing research has yet to assess responding to lures from known people. The effects of video modeling on abduction-prevention skills were evaluated using a multiple probe across participants with an embedded adapted alternating treatments design. Using video modeling, we extended research by teaching how to respond to lures from strangers and known individuals by securing a code word. Generalization was programmed for and assessed across multiple lure types, confederates, and locations. Participants demonstrated differentiated responding across lures from strangers and known people and responding generalized to untrained community settings, people, and lures. Three of the 4 participants maintained skills at least 1 week following mastery. Procedures, goals, and outcomes were considered socially valid.
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2. Alkhalidy H, Abushaikha A, Alnaser K, Obeidat MD, Al-Shami I. Nutritional Status of Pre-school Children and Determinant Factors of Autism : A Case-Control Study. Frontiers in nutrition. 2021 ; 8 : 627011.
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder triggered by several factors, including those of genetic and environmental nature. ASD can alter communication, behavior, and children’s nutritional status, placing them at high risk for nutritional imbalances. Therefore, this study aims to assess preschool autistic children’s nutritional status as compared to that of Typically Developing (TD) children of the same age. The study also revealed some of the ASD risk factors among the Jordanian population. It included 52 ASD and 51 TD children (3-6 years), and considered sociodemographic, obstetric, and nutritional factors of the two groups, stratified by gender. Nutritional status was evaluated through a comprehensive questionnaire, 3-day food record, and anthropometric and biochemical measurements. Differences between groups were identified using the chi-square and independent-sample t-test. The logistic regression model was used after the adjustment of confounders to detect an autistic child’s determinants. The study showed little difference between ASD and TD children with respect to nutrients’ intake inadequacy and biochemical-nutritional deficiencies, but did reveal gender-based differences. Autistic girls were at higher risk of inadequate carbohydrate intake, while autistic boys were at higher risk of inadequate vitamin E, vitamin K, and fluoride compared to TD children. More autistic children had been treated in neonatal care units after birth than had TD children. The regression analysis revealed that lower maternal education level (OR, 12.25 ; 95% CI, 1.18-126.91), vaginal delivery (OR, 0.273 ; 95% CI, 0.105-0.712), family history of autism (OR, 0.189 ; 95% CI, 0.059-0.612), and taking dietary supplements during pregnancy (OR, 4.665 ; 95% CI, 1.158-18.79) were all determinants of ASD in children. In conclusion, maternal nutrition, postnatal conditions, and nutritional status might be contributors to ASD in children. Pre-school children are at high risk for developing nutritional deficiencies. It is therefore important to maintain optimal nutritional status in pregnant patients, and in children after delivery and during early childhood. Future studies that investigate the role of nutrient deficiencies and nutritional interventions in ASD are necessary. Also required are studies that focus on gender differences in the prevalence of ASD, types and severity of symptoms, and ASD nutrition-related problems.
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3. Antonarakis GS, Kiliaridis S. Orthodontic treatment of patients with special needs in Switzerland. Swiss dental journal. 2021 ; 131(3) : 220-7.
Individuals with special healthcare needs have increased orthodontic treatment need, but access to care may be insufficient. The aim of this study was to assess the uptake of patients with special needs in orthodontic settings throughout Switzerland. A web-based survey was sent to all specialist orthodontist members of the Swiss Orthodontic Society. From 220 questionnaires sent, 60% were returned (n=131). 84% of participants responded that they treat patients with special needs, but most orthodontists saw only two new patients per year with special needs. Patients most frequently treated were those with Down syndrome, autism spectrum disorder, or intellectual deficiency. Many practitioners use fixed, removable or functional appliances for treatment of these patients, while aligner use was much less prevalent. Interceptive measures were also used. Chairside time was increased on average by 50%, and treatment duration increased by 25% when compared to other patients. Treatment goals for about half of these patients was compromised. Of orthodontists not providing treatment to individuals with special needs, 79% stated they would not be interested in treating these patients, while 56% of orthodontists already providing treatment stated they would not be interested in treating more of these patients. Reasons given included the lack of additional strategies to treat these patients, lack of referrals, problems with cooperation, and time constraints. In conclusion, roughly four in five orthodontists in Switzerland treat patients with special needs, with most of these orthodontists seeing one or two new patients with special needs annually. The majority of practitioners do not wish to increase their intake of patients with special needs.
4. Barnard-Brak L, Watkins L, Richman DM. Examining the correlation between symptoms of obsessive compulsive disorder and autism spectrum disorder in a community-based sample of adults. Psychiatry Res. 2021 ; 299 : 113826.
We examined the association between obsessive compulsive disorder (OCD) and autism spectrum disorder (ASD) symptoms among a community-based sample of adults (n = 217) that completed an OCD and ASD screening instrument. Approximately 39% of the sample that met the ASD screener cutoff criteria also met the screener cutoff criteria for OCD. The correlation between overall OCD symptoms (i.e., obsessions and compulsions) and ASD symptoms was small but statistically significant for the entire sample of participants. Similarly, obsession and compulsion subscales showed almost identical results for correlation with ASD symptoms (i.e., small but statistically significant) for the entire sample. These results suggest that levels of compulsions and obsessions are equally correlated with ASD symptoms, and neither elevated compulsions nor obsessions differentially predicted the severity of ASD symptoms in a community-based sample of adults. However, when the analysis was restricted to only the participants that met screening criteria cutoff score for ASD, statistically significant results occurred with only elevated compulsions accurately predicting severity of ASD symptoms. These results suggest that compulsive behavior appears to be a good candidate for targeting intervention resources for individuals with characteristics of ASD given the mounting data suggesting that compulsions are more common than obsessions.
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5. Beiting M, Maas E. Autism-Centered Therapy for Childhood Apraxia of Speech (ACT4CAS) : A Single-Case Experimental Design Study. American journal of speech-language pathology. 2021 : 1-17.
Purpose A subset of children with autism spectrum disorder (ASD) has speech sound disorders, including childhood apraxia of speech (CAS). To date, virtually all speech treatment studies consider ASD an exclusionary criterion, resulting in little scientific evidence for treatment of CAS for children who also have ASD. This study proposes and tests a novel approach, Autism-Centered Therapy for Childhood Apraxia of Speech (ACT4CAS), as a theoretically and clinically informed speech treatment option for this population. Method Using a multiple-baseline design within and across participants, three children with co-occurring ASD and CAS received 11-18 treatment sessions. Treatment targets were individually designed and matched with untreated control words. Probes were administered at the start of each session to assess speech production accuracy perceptually. Changes in production accuracy were examined through visual inspection and quantified with effect sizes. Results Findings were mixed, with one child showing significant gains for half of the treated targets at follow-up and two children showing no clear improvement. Conclusions Preliminary evidence suggests potentially positive treatment effects for ACT4CAS when implemented as intended, although treatment intensity and disorder severity likely influence treatment outcome. Replication and comparison of ACT4CAS to other speech treatments is needed. Supplemental Material https://doi.org/10.23641/asha.14110445.
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6. Bennett HJ, Ringleb SI, Bobzien J, Haegele JA. Walking lower extremity biomechanics of adolescents with autism spectrum disorder. Journal of biomechanics. 2021 ; 119 : 110332.
Although the literature indicates children with autism spectrum disorder (ASD) walk at slower speeds and altered kinematics compared to neurotypical controls, no research has examined walking at matched speeds. This study examined biomechanical differences between adolescents with ASD and matched (age, sex, and body mass index) neurotypical controls. Lower extremity biomechanics of seventeen adolescents with ASD and seventeen controls were compared at matched speeds : self-selected and a standardized 1.3 m/s. Controls exhibited greater eversion angles and hip abduction moments compared to those with ASD. This study found adolescents, which may have a more mature gait than young children, walk with a similar pattern in the propulsive plane (i.e. sagittal) as neurotypical controls, but with alterations in the supportive plane (i.e. frontal).
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7. Bharath R, Moodithaya SS, Halahalli H, Undaru SB, Nallilu SK, Mirajkar AM. Evaluation of sympathetic sudomotor responses to auditory stimuli in children with autism spectrum disorders. Indian journal of psychiatry. 2020 ; 62(5) : 494-500.
AIM AND OBJECTIVE : Autism spectrum disorder (ASD) being a complex neurological and developmental disorder is also associated with autonomic nervous system dysfunction. Sudomotor nerve function is one highly sensitive index of sympathetic cholinergic activity and can be evaluated by measuring sympathetic skin response (SSR) to various stimuli. Studies reporting SSR to auditory stimulus among ASDs are limited and to the extent of our knowledge not assessed in the Indian scenario. The objective of the study was to assess and compare sympathetic sudomotor activity by evaluating SSR to auditory stimuli in children with and without ASDs. MATERIALS AND METHODS : A total of eighty individuals were enrolled in the study, including forty children with ASD and forty typically developing (TD) children. SSR to auditory stimulus was assessed using a digitized data acquisition unit in a soundproof room, maintained at 23°C. SSR indices such as latent period (s), amplitude (mv), and habituation were analyzed and compared using appropriate statistical tests between the groups. P < 0.05 was considered statistically significant. RESULTS : Habituation for SSR was statistically significantly lower (P < 0.001) in children with ASD (0.43 [0.21, 0.61]) compared to TD children (0.78 [0.65, 0.95]). Latent period was also statistically significantly higher in children with ASD (1.67 [1.37, 2.02]) compared to TD children (1.41 [1.2, 1.72]). However, there was no significant difference in amplitude values between the groups. CONCLUSIONS : Children with ASDs exhibited slower habituation of SSR to auditory stimuli compared to healthy controls. This slower habituation process might be due to the persistent predominant state of sympathetic nerves, which, in turn, contributes to the atypical emotional and behavioral traits prevailing in ASDs.
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8. Cerminara M, Spirito G, Pisciotta L, Squillario M, Servetti M, Divizia MT, Lerone M, Berloco B, Boeri S, Nobili L, Vozzi D, Sanges R, Gustincich S, Puliti A. Case Report : Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances. Front Genet. 2021 ; 12 : 625564.
Autism Spectrum Disorder (ASD) refers to a broad range of conditions characterized by difficulties in communication, social interaction and behavior, and may be accompanied by other medical or psychiatric conditions. Patients with ASD and comorbidities are often difficult to diagnose because of the tendency to consider the multiple symptoms as the presentation of a complicated syndromic form. This view influences variant filtering which might ignore causative variants for specific clinical features shown by the patient. Here we report on a male child diagnosed with ASD, showing cognitive and motor impairments, stereotypies, hyperactivity, sleep, and gastrointestinal disturbances. The analysis of whole exome sequencing (WES) data with bioinformatic tools for oligogenic diseases helped us to identify two major previously unreported pathogenetic variants : a maternally inherited missense variant (p.R4122H) in HUWE1, an ubiquitin protein ligase associated to X-linked intellectual disability and ASD ; and a de novo stop variant (p.Q259X) in TPH2, encoding the tryptophan hydroxylase 2 enzyme involved in serotonin synthesis and associated with susceptibility to attention deficit-hyperactivity disorder (ADHD). TPH2, expressed in central and peripheral nervous tissues, modulates various physiological functions, including gut motility and sleep. To the best of our knowledge, this is the first case presenting with ASD, cognitive impairment, sleep, and gastrointestinal disturbances linked to both HUWE1 and TPH2 genes. Our findings could contribute to the existing knowledge on clinical and genetic diagnosis of patients with ASD presentation with comorbidities.
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9. Chen CP, Chern SR, Wu PS, Chen SW, Wu FT, Wang W. Molecular cytogenetic characterization of a de novo chromosome 1q41-q42.11 microdeletion of paternal origin in a 15-year-old boy with mental retardation, developmental delay, autism and congenital heart defects. Taiwanese journal of obstetrics & gynecology. 2021 ; 60(2) : 341-4.
OBJECTIVE : We present molecular cytogenetic characterization of a de novo chromosome 1q41-q42.11 microdeletion of paternal origin in a mentally retarded child of a family requesting for genetic counseling of the future pregnancy. CASE REPORT : A 43-year-old, gravida 1, para 1, woman, who had a 15-year-old son with mental retardation, planned to have another normal child and requested for genetic counseling of the future pregnancy. Her husband was 48 years old. The 15-year-old boy had a body height of 148 cm (<3rd centile) and a body weight of 40 Kg (<35th centile). He had facial dysmorphism, mental retardation, scoliosis, abnormal gaits, tetralogy of Fallot, pulmonary stenosis and autism but did not have any history of epilepsy. Cytogenetic analysis of the boy and the parents revealed normal karyotypes. Array comparative genomic hybridization (aCGH) analysis of the family revealed a de novo 2.028-Mb 1q41-q42.11 microdeletion, or arr 1q41q42.11 (222,571,596-224,599,234) × 1.0 [GRCh37 (hg19)], encompassing 13 Online Mendelian Inheritance in Man (OMIM) genes including DISP1, SUSD4, FBXO28, TP53BP2 and WDR26 in the child. Quantitative fluorescent polymerase chain reaction analysis confirmed a paternal origin of the deletion. Fluorescence in situ hybridization analysis confirmed a 1q41 deletion. CONCLUSION : Genetic counseling of the parents who have a previous child with mental retardation and who wish to have another normal child in the future pregnancy should include genetic studies, and aCGH is useful under such a circumstance.
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10. Cosemans N, Maljaars J, Vogels A, Holvoet M, Devriendt K, Steyaert J, Van Den Bogaert K, Noens I, Peeters H. 8p21.3 deletions are rare causes of non-syndromic autism spectrum disorder. Neurogenetics. 2021.
A de novo 0.95 Mb 8p21.3 deletion had been identified in an individual with non-syndromic autism spectrum disorder (ASD) through high-resolution copy number variant analysis. Subsequent screening of in-house and publicly available databases resulted in the identification of six additional individuals with 8p21.3 deletions. Through case-based reasoning, we conclude that 8p21.3 deletions are rare causes of non-syndromic neurodevelopmental and neuropsychiatric disorders. Based on literature data, we highlight six genes within the region of minimal overlap as potential ASD genes or genes for neuropsychiatric disorders : DMTN, EGR3, FGF17, LGI3, PHYHIP, and PPP3CC.
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11. Dallman AR, Bailliard A, Harrop C. Identifying Predictors of Momentary Negative Affect and Depression Severity in Adolescents with Autism : An Exploratory Ecological Momentary Assessment Study. J Autism Dev Disord. 2021 : 1-13.
Depression is a common comorbidity in autism spectrum disorder (ASD). Little is known about risk factors for depression and depressive symptoms in this population. Ecological momentary assessment (EMA) has been used in the typically developing population to identify risk factors for depression, but has been rarely applied in ASD populations. In this exploratory study, 17 autistic adolescents participated in an EMA protocol in which they reported on their current activities and emotions six times per day for seven consecutive days. Results suggested that negative affect is predicted by momentary quality of social interaction and enjoyment of the current activity (p < 0.05). Additionally, affective instability predicted depressive symptoms. These results provide insights into risk factors for depression in this vulnerable population.
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12. De Luca R, Naro A, Colucci PV, Pranio F, Tardiolo G, Billeri L, Le Cause M, De Domenico C, Portaro S, Rao G, Calabrò RS. Improvement of brain functional connectivity in autism spectrum disorder : an exploratory study on the potential use of virtual reality. J Neural Transm (Vienna). 2021 ; 128(3) : 371-80.
Patients with Autism Spectrum Disorder (ASD) need to be provided with behavioral, psychological, educational, or skill-building interventions as early as possible. Cognitive Behavior Therapy has proven useful to manage such problems. There is also growing evidence on the usefulness of Virtual Reality Therapy (VRT) in treating various functional deficits in ASD. This exploratory study is aimed at assessing the changes in cognitive functions in children with ASD, and the putative subtending neurophysiological mechanisms, following the provision of rehab training using an innovative VRT system. Twenty patients with ASD, aged 6-15 years, were provided with 24 sessions of VRT by using the pediatric module of the BTS NIRVANA System. Neuropsychological and EEG evaluations were carried out before and at the end of the training. After VRT, all patients showed a significant improvement in their cognitive-behavioral problems concerning attention processes, visuospatial cognition, and anxiety. These findings were paralleled by an evident reshape of frontoparietal connectivity in the alpha and theta frequency range. Our study suggests that VRT could be a useful and promising tool to improve ASD neurorehabilitation outcomes. This improvement is likely to occur through changes in frontoparietal network connectivity following VRT.
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13. Del Rosario J, Speed A, Arrowood H, Motz C, Pardue M, Haider B. Diminished Cortical Excitation and Elevated Inhibition During Perceptual Impairments in a Mouse Model of Autism. Cereb Cortex. 2021.
Sensory impairments are a core feature of autism spectrum disorder (ASD). These impairments affect visual perception and have been hypothesized to arise from imbalances in cortical excitatory and inhibitory activity. There is conflicting evidence for this hypothesis from several recent studies of transgenic mouse models of ASD ; crucially, none have measured activity from identified excitatory and inhibitory neurons during simultaneous impairments of sensory perception. Here, we directly recorded putative excitatory and inhibitory population spiking in primary visual cortex (V1) while simultaneously measuring visual perceptual behavior in CNTNAP2-/- knockout (KO) mice. We observed quantitative impairments in the speed, accuracy, and contrast sensitivity of visual perception in KO mice. During these perceptual impairments, stimuli evoked more firing of inhibitory neurons and less firing of excitatory neurons, with reduced neural sensitivity to contrast. In addition, pervasive 3-10 Hz oscillations in superficial cortical layers 2/3 (L2/3) of KO mice degraded predictions of behavioral performance from neural activity. Our findings show that perceptual deficits relevant to ASD may be associated with elevated cortical inhibitory activity along with diminished and aberrant excitatory population activity in L2/3, a major source of feedforward projections to higher cortical regions.
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14. Frazier TW, Coury DL, Sohl K, Wagner KE, Uhlig R, Hicks SD, Middleton FA. Evidence-based use of scalable biomarkers to increase diagnostic efficiency and decrease the lifetime costs of autism. Autism Res. 2021.
Challenges associated with the current screening and diagnostic process for autism spectrum disorder (ASD) in the US cause a significant delay in the initiation of evidence-based interventions at an early age when treatments are most effective. The present study shows how implementing a second-order diagnostic measure to high risk cases initially flagged positive from screening tools can further inform clinical judgment and substantially improve early identification. We use two example measures for the purposes of this demonstration ; a saliva test and eye-tracking technology, both scalable and easy-to-implement biomarkers recently introduced in ASD research. Results of the current cost-savings analysis indicate that lifetime societal cost savings in special education, medical and residential care are estimated to be nearly $580,000 per ASD child, with annual cost savings in education exceeding $13.3 billion, and annual cost savings in medical and residential care exceeding $23.8 billion (of these, nearly $11.2 billion are attributable to Medicaid). These savings total more than $37 billion/year in societal savings in the US. Initiating appropriate interventions faster and reducing the number of unnecessary diagnostic evaluations can decrease the lifetime costs of ASD to society. We demonstrate the value of implementing a scalable highly accurate diagnostic in terms of cost savings to the US. LAY SUMMARY : This paper demonstrates how biomarkers with high accuracy for detecting autism spectrum disorder (ASD) could be used to increase the efficiency of early diagnosis. Results also show that, if more children with ASD are identified early and referred for early intervention services, the system would realize substantial costs savings across the lifespan.
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15. Harris HK, Lee C, Sideridis GD, Barbaresi WJ, Harstad E. Correction to : Identifying Subgroups of Toddlers with DSM‑5 Autism Spectrum Disorder Based on Core Symptoms. J Autism Dev Disord. 2021.
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16. Hong JS, Singh V, Kalb L, Ashkar A, Landa R. Replication study of ADOS-2 Toddler Module cut-off scores for autism spectrum disorder classification. Autism Res. 2021 : e02496.
The Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) has been regarded as the gold standard assessment of autism spectrum disorder (ASD). While clinical validity of ADOS-2 Modules 1-4 have been extensively studied, there has been very limited research examining the clinical validity of ADOS-2 Toddler Module. The goal of this study was to examine alignment of the ADOS-2 Toddler Module classification with clinicians’ determination of ASD, with assessing cut-off scores for diagnosing ASD in toddlers. A total of 412 toddlers ages 12-30 months who received ADOS-2 Toddler Module as well as a best estimate clinical (BEC) diagnosis, were included in this study. ADOS-2 Toddler Module cut-off scores were determined using the appropriate algorithms (Algorithm 1 for toddlers aged 12-20 months and those aged 21-30 months with <5 words, Algorithm 2 for toddlers aged 21-30 months with 5 words or more). Receiver operating characteristic (ROC) curves were used to assess cut-off scores that optimized sensitivity and specificity when compared against BEC diagnosis. The selected cut-off scores were examined using frequency tables to compare ADOS-2 classification against BEC diagnosis. For Algorithm 1, classification statistics were optimized at the cut-off score of 12 with an area under the curve (AUC) of 0.92. For Algorithm 2, classification statistics were optimized at the cut-off score of 10 with an AUC of 0.96. The ADOS-2 Toddler Module classification is strongly aligned with BEC diagnosis. The optimal cut-off scores identified in the current study reflect the same results configured by the prior study. LAY SUMMARY : ADOS-2 Toddler Module has been widely used for the ASD assessment, but there have been limited research on its clinical validity. This study is the first replication of the ADOS-2 Toddler Module with a large independent sample. We examined alignment of the ADOS-2 Toddler Module classification with clinicians' determination of ASD, with assessing cut-off scores, and confirmed the clinical validity of ADOS-2 Toddler Module. Cut-off scores of ADOS-2 Toddler Module cited in the manual yielded best clinical utility for diagnosing ASD in toddlers.
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17. Jones M, Falkmer M, Milbourn B, Tan T, Bölte S, Girdler S. Identifying the Essential Components of Strength-based Technology Clubs for Adolescents with Autism Spectrum Disorder. Dev Neurorehabil. 2021 : 1-15.
Background : Strength-based technology clubs for adolescents with autism spectrum disorder (ASD) have become increasingly popular ; however, they remain poorly described in the literature. Before the impact and benefit of strength-based technology clubs can be measured, consistency in their design and delivery must be established. This study aimed to identify the essential components of strength-based technology clubs by exploring context, mechanisms, and outcomes of existing strength-based technology clubs.Method : Twenty-three adolescents with ASD (mean age 12.96 years, SD = 1.86, range = 10-18 years), 25 parents (mean age 46.08 years, SD = 8.27, range = 33-69 years), and 20 facilitators (mean age 27.93 years, SD = 6.55, range = 20-46 years) were purposively sampled from three established strength-based technology clubs. Data were obtained via ethnographic methods, including participant observations, interviews, and focus groups. Data analysis was underpinned by a realist evaluation, which provided the context-mechanism-outcome framework.Results : Data analysis revealed that strength-based technology clubs had four context themes (personal factors of adolescents, personal factors of facilitators, personal factors of parents, institution), three mechanism themes (activity design, strengths and abilities, environment), and three outcome themes (skill building, connection with others, emotion).Conclusion : The results highlighted the importance of understanding the personal context of adolescents, providing an individualized approach, leveraging individual interests, and modifying the environment to suit the individual. The findings contributed to defining a strength-based approach within ASD, and have demonstrated that positive outcomes can be achieved by focusing on strengths rather than deficits. Future ASD services can use the results as a framework for applying a strength-based approach. The efficacy of newly designed strength-based programs can then be tested.
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18. Karmakar S, Sarkar S. Beneficial aspects of autism stemming from enhanced visuospatial skills : Result from a comparative study in India. Indian journal of psychiatry. 2020 ; 62(5) : 540-3.
BACKGROUND : Autism spectrum disorder (ASD) is a relatively common neurodevelopmental disorder characterized by impairments in social interaction and communication, associated with restrictive and repetitive behaviors, interests, and activities. However, there are various positive character traits among individuals suffering from ASD – they are generally honest, decisive, and nonjudgmental. They are also reported to have excellent attention to details, which have been ascribed to their enhanced visual search skills. AIM : Our study was undertaken to assess these visuospatial perception skills among children with autism and compare the results with that of typically developing (TD) children in the Indian population. MATERIALS AND METHODS : A total of 47 children with ASD and 47 age-, gender-, and education-matched TD children were assessed using tests for disjunctive and conjunction search, real-world visual search, and visual working memory. RESULTS : Children with ASD performed significantly better than the TD children in tests for visual search and were comparable in the test for visual working memory. CONCLUSION : Our study showed that children with autism have enhanced visual skills, and this quality can be honed further and be utilized in jobs that require good observation skills and attention to details.
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19. Kim E, Martin K, Karper L, Maru S, Driscoll M. Darmok and Jalad at the Psych Ward : A Case Demonstration of How to Creatively Communicate with a 19-Year-Old Patient with Autism Spectrum Disorder. Case reports in psychiatry. 2021 ; 2021 : 6690564.
Difficulties in communication often arise between individuals with autism spectrum disorder and their treating physicians because both sides struggle to find a common ground. The story of Darmok and Jalad at Tanagra from Star Trek : The Next Generation nicely exemplifies how two populations that spoke different languages were still able to find a creative way to communicate with each other. This story is used as a metaphor to illustrate how a novel connection was made with a 19-year-old patient with autism spectrum disorder who was admitted to the inpatient psychiatric unit.
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20. Kim M, Park C, Park M, You JSH. Comparative parenting stress measures between segmental and community-based rehabilitation services in parents of children and adolescents with intellectual and developmental disabilities (IDD) : A cross-sectional survey. Technology and health care : official journal of the European Society for Engineering and Medicine. 2021.
BACKGROUND : There is a dearth of information on the effects of different types (Segmental rehabilitation service (SRS) vs Community-based rehabilitation service (CRS)) on the parenting stress and family quality of life in parents of children who have individuals with intellectual and developmental disabilities (IDD). OBJECTIVE : This paper is to compare the effects of SRS and CRS on parenting stress and family quality of life in parents of individuals with IDD. METHODS : A cross-sectional design was used to examine parenting stress and family quality life in cohorts of 120 fathers and mothers of children with IDD who had received either SRS or CRS participated in the survey. The outcome measures included the modified Parenting Stress Index (PSI) and the modified Beach Center Family Quality of Life Scale (mBCFQLS). The Mann-Whitney U test was performed at P< 0.05. RESULTS : A significant difference was observed in social stress in PSI between the SRS and CRS groups (P= 0.03). The child rearing, emotional well-being, and physical and material well-being variables in mBCFQLS were different between the SRS and CRS groups (P< 0.05), indicating superior benefits from CRS than SRS. CONCLUSIONS : These findings provide important information and about parenting stress and family quality of life in children with IDD, for developing effective rehabilitation programs and services for these parents.
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21. Koirala A, Yu Z, Schiltz H, Van Hecke A, Armstrong B, Zheng Z. A Preliminary Exploration of Virtual Reality-Based Visual and Touch Sensory Processing Assessment for Adolescents With Autism Spectrum Disorder. IEEE transactions on neural systems and rehabilitation engineering : a publication of the IEEE Engineering in Medicine and Biology Society. 2021 ; 29 : 619-28.
Sensory abnormalities are experienced by 90 – 95% of individuals with Autism Spectrum Disorder (ASD), a developmental disorder that impacts at least 1 in 132 children worldwide. Virtual reality (VR) technologies can precisely present sensory stimuli and be integrated with human sensing technologies to automatically detect sensory responses, and thus has a potential to improve sensory assessment objectiveness and sensitivity, compared to traditional questionnaire-based methods. However, there is a lack of evidence to demonstrate this potential. Therefore, we designed and developed a preliminary sensory assessment VR system (SAVR) to objectively and precisely evaluate the visual and touch sensory processing differences between adolescents with ASD and their typically developing (TD) peers through game playing. A controlled experiment was conducted with 12 adolescents with ASD and 12 TD adolescents. Participants’ sensory pattern was assessed by SAVR and a widely used traditional questionnaire-the Adult/Adolescent Sensory Profile (AASP). We hypothesized that : 1) compared to AASP, SAVR can find more significant differences between the two participant groups, and 2) there are significant and strong correlations between the SAVR results and the AASP results. Statistical analyses of the experimental data supported the hypotheses. The implication and limitations of this preliminary exploration as well as future works are discussed.
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22. May CD, St George JM, Lane S. Fathers Raising Children on the Autism Spectrum : Lower Stress and Higher Self-Efficacy Following SMS (Text2dads) Intervention. J Autism Dev Disord. 2021.
This study explored potential influence of a text-based program for fathers of children on the autism spectrum. Fathers (N = 184) were recruited through autism services across Australia. Participants received messages focusing on five domains : (a) relationships with parenting partner ; (b) formal support ; (c) father-child interaction ; (d) understanding autism ; and, (e) coping. Surveys explored parenting stress, co-parenting quality and autism-specific parenting self-efficacy. Eighty-eight percent completed the program, 43.6% completed pre and post surveys. There was significant reduction in parenting stress (p < .01) and increase in autism-specific parenting self-efficacy (p < .01). Effect sizes indicate these may be clinically meaningful. This highly scalable intervention has potential to influence factors that shape and sustain relationships fathers share with their children on the autism spectrum, families and services.
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23. McMillion A, Van Herwegen J, Johnson A, Monteiro J, Cronin AJ, Remington A. Dental experiences of a group of autistic adults based in the United Kingdom. Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry. 2021.
AIMS : Previous international research has shown that autistic people have difficulty accessing dental care due to sensory processing, anxiety and communication issues. However, it is not known whether autistic adults in the United Kingdom are experiencing similar dental care barriers. The current study investigated autistic adults’ dental experiences in the United Kingdom. METHODS AND RESULTS : A mixed methods survey was given to self-selecting autistic (n = 37) and non-autistic adults (n = 43) to compare whether autistic individuals had more negative experiences than non-autistic individuals. Closed questions asked about anxiety, patient-practitioner communication, satisfaction and the dental environment. Open questions asked about autism-specific dental challenges, what works well at the dentist, and improving autistic individuals’ experiences. Responses were analyzed using thematic analysis. Overall, results demonstrated that autistic adults in the United Kingdom have more negative dental experiences than non-autistic adults. These predominantly related to interactions with dental practitioners, a challenging sensory environment, anxiety, pain, and disclosure. Participants recommended sensory environment adaptations, ways to increase preparedness, longer appointments, and individual accommodations. CONCLUSION : This study offers best-practice strategies for working with autistic patients and highlights the importance of dentists working with autistic individuals to maximize the quality of care and outcomes for this underserved population.
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24. Morosohk E, Miltenberger R. Using Generalization-Enhanced Behavioral Skills Training to Teach Poison Safety Skills to Children with Autism. J Autism Dev Disord. 2021.
It is important for children to learn safety skills, especially involving dangerous stimuli such as medicine that can be found in almost every household. This study examined a generalization-enhanced behavioral skills training package to teach children with autism poison safety skills. Three children ages 4- to 10-years-old received generalization enhanced BST to teach the safety skills required when they found pills. In situ assessments were conducted both in home and in the clinic to examine whether the skills generalized to the natural setting. All children engaged in the safety skills following training. The results of this study indicated that generalization enhanced BST is an effective method of teaching poison safety skills to children with autism.
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25. Neuhaus E, Kang VY, Kresse A, Corrigan S, Aylward E, Bernier R, Bookheimer S, Dapretto M, Jack A, Jeste S, McPartland JC, Van Horn JD, Pelphrey K, Webb SJ. Language and Aggressive Behaviors in Male and Female Youth with Autism Spectrum Disorder. J Autism Dev Disord. 2021.
Aggressive behaviors are common among youth with autism spectrum disorder (ASD) and correlate with pervasive social-emotional difficulties. Communication skill is an important correlate of disruptive behavior in typical development, and clarification of links between communication and aggression in ASD may inform intervention methods. We investigate child/family factors and communication in relation to aggression among 145 individuals with ASD (65 female ; ages 8-17 years). Overall, more severe aggression was associated with younger age, lower family income, and difficulties with communication skills. However, this pattern of results was driven by males, and aggression was unrelated to child or family characteristics for females. Future work should incorporate these predictors in conjunction with broader contextual factors to understand aggressive behavior in females with ASD.
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26. Pham A, Kasenic A, Hayden L, Inwards-Breland DJ, Sumerwell C, Twible H, Ahrens KR, Orlich F. A Case Series on Disordered Eating Among Transgender Youth With Autism Spectrum Disorder. J Adolesc Health. 2021.
Transgender youth with autism spectrum disorder (ASD) may experience complex relationships with eating because of cognitive rigidity, including inflexible thoughts and behaviors around food and/or their body. Yet, there is no research that provides guidance to clinicians providing care for youth with the unique triad of gender dysphoria, ASD, and disordered eating. This case series discusses trends in presentation and management of three cases from a multidisciplinary gender care clinic. All three individuals endorsed rigid thoughts around food and/or body appearance, which affected nutritional intake ; however, their presenting eating disorder behaviors, described etiology for disordered thoughts, diagnosis, and level of engagement in a multidisciplinary treatment model varied. Based on these cases we hypothesize several strategies including early engagement with ASD specialists, proactive screening and discussions around eating with all transgender youth with suspected/confirmed ASD, continued discussions throughout care, as disordered eating behaviors may change after the initiation of gender-affirming medications, dietician visits early in treatment regardless of endorsed thoughts and behaviors, tailored management to the unique needs of each individual and their eating thoughts/behaviors, and consistent multidisciplinary collaboration.
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27. Shuper Engelhard E, Vulcan M. The Potential Benefits of Dance Movement Therapy in Improving Couple Relations of Individuals Diagnosed With Autism Spectrum Disorder-A Review. Front Psychol. 2021 ; 12 : 619936.
A review of current literature indicates that adults diagnosed with autism spectrum disorder (ASD) feel the need for intimate and sexual relationships and maintain such relationships despite and alongside their difficulties in emotional communication, social interactions, reciprocity, and verbal and non-verbal expression. This understanding calls for the development of intervention programs designed to support the specific needs and address the problems of couples where one partner is diagnosed with ASD. In view of the relevance and significant part played by body and movement in emotional development and psychotherapy, the present article offers a review of studies examining the contribution of dance movement therapy to both the quality of life and functioning of adults with ASD and therapeutic processes in couple therapy. This review aims to establish an infrastructure for the construction of intervention programs and for future studies designed to enhance the quality of life and independence of adults with ASD.
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28. Takayanagi M, Kawasaki Y, Shinomiya M, Hiroshi H, Okada S, Ino T, Sakai K, Murakami K, Ishida R, Mizuno K, Niwa SI. Review of Cognitive Characteristics of Autism Spectrum Disorder Using Performance on Six Subtests on Four Versions of the Wechsler Intelligence Scale for Children. J Autism Dev Disord. 2021.
This study was a systematic review of research using the Wechsler Intelligence Scale for Children (WISC) with Autism Spectrum Disorder (ASD) to examine cognitive characteristics of children with ASD beyond the impact of revisions based on WISC and diagnostic criteria changes. The classic « islets of ability » was found in individuals with full-scale IQs < 100. The "right-descending profiles" were observed among high IQ score individuals. High levels on the Block Design and low Coding levels were consistently found regardless of the variation in intellectual functioning or diagnosis. This review identified patterns of cognitive characteristics in ASD individuals using empirical data that researchers may have previously been aware of, based on their experiences, owing to the increased prevalence of ASD.
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29. Thorsen M, Bilenberg N, Thorsen L, Michel TM. Oxidative Stress in Adults with Autism Spectrum Disorder : A Case Control Study. J Autism Dev Disord. 2021.
Oxidative stress has been proposed as being important in the pathophysiology of autism spectrum disorders (ASD), and heightened levels of oxidative stress has found in children with ASD. Our aim was to investigate, whether this change is temporary or persist into adulthood. We included 89 adult patients with ASD and sex and age matched controls. Plasma levels of antioxidants superoxide dismutase 1 (SOD1) and superoxide dismutase 2 (SOD2) and pro-oxidant xanthine oxidase (XO) were measured. Individuals with ASD had higher levels of SOD1, which furthermore correlated with autism severity as measured by autism quotient-score. We found no difference regarding SOD2 and XO between ASD group and controls. However, SOD1 and SOD2 were elevated in males compared to females.
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30. Tomaino MAE, Greenberg AL, Kagawa-Purohit SA, Doering SA, Miguel ES. An Assessment of the Feasibility and Effectiveness of Distance Learning for Students With Severe Developmental Disabilities and High Behavioral Needs. Behavior analysis in practice. 2021 : 1-17.
Schools across the country closed their doors during the COVID-19 pandemic. These measures impacted all students, as schools, educators, and families grappled with the realities of transitioning to distance-learning platforms. The research on distance learning is still in its early phases. However, almost no research exists on educating students with severe disabilities and high behavioral needs using this technology. Study 1 collected survey data from students’ families and their educators on the feasibility and effectiveness of distance-learning programs when working with students with severe developmental disabilities and high behavioral needs. Results indicated that parents and educators had generally neutral attitudes toward distance learning, although educators agreed that their students were obtaining educational benefits during distance learning. Study 2 further examined the effects of a transition to distance learning on students’ Individualized Education Plan (IEP) goal progress. Analyses revealed that students maintained about half of the skills addressed in their IEPs and made progress on an additional quarter of their IEP goals. Findings contribute to a much-needed literature base on distance learning and provide additional information as to the feasibility and effectiveness of distance learning with students with severe developmental disabilities and high behavioral needs. Future work is needed to determine best practices for distance learning with this population.
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31. Traetta ME, Codagnone MG, Uccelli NA, Ramos AJ, Zárate S, Reinés A. Hippocampal neurons isolated from rats subjected to the valproic acid model mimic in vivo synaptic pattern : evidence of neuronal priming during early development in autism spectrum disorders. Mol Autism. 2021 ; 12(1) : 23.
BACKGROUND : Autism spectrum disorders (ASD) are synaptopathies characterized by area-specific synaptic alterations and neuroinflammation. Structural and adhesive features of hippocampal synapses have been described in the valproic acid (VPA) model. However, neuronal and microglial contribution to hippocampal synaptic pattern and its time-course of appearance is still unknown. METHODS : Male pups born from pregnant rats injected at embryonic day 10.5 with VPA (450 mg/kg, i.p.) or saline (control) were used. Maturation, exploratory activity and social interaction were assessed as autistic-like traits. Synaptic, cell adhesion and microglial markers were evaluated in the CA3 hippocampal region at postnatal day (PND) 3 and 35. Primary cultures of hippocampal neurons from control and VPA animals were used to study synaptic features and glutamate-induced structural remodeling. Basal and stimuli-mediated reactivity was assessed on microglia primary cultures isolated from control and VPA animals. RESULTS : At PND3, before VPA behavioral deficits were evident, synaptophysin immunoreactivity and the balance between the neuronal cell adhesion molecule (NCAM) and its polysialylated form (PSA-NCAM) were preserved in the hippocampus of VPA animals along with the absence of microgliosis. At PND35, concomitantly with the establishment of behavioral deficits, the hippocampus of VPA rats showed fewer excitatory synapses and increased NCAM/PSA-NCAM balance without microgliosis. Hippocampal neurons from VPA animals in culture exhibited a preserved synaptic puncta number at the beginning of the synaptogenic period in vitro but showed fewer excitatory synapses as well as increased NCAM/PSA-NCAM balance and resistance to glutamate-induced structural synaptic remodeling after active synaptogenesis. Microglial cells isolated from VPA animals and cultured in the absence of neurons showed similar basal and stimuli-induced reactivity to the control group. Results indicate that in the absence of glia, hippocampal neurons from VPA animals mirrored the in vivo synaptic pattern and suggest that while neurons are primed during the prenatal period, hippocampal microglia are not intrinsically altered. CONCLUSIONS : Our study suggests microglial role is not determinant for developing neuronal alterations or counteracting neuronal outcome in the hippocampus and highlights the crucial role of hippocampal neurons and structural plasticity in the establishment of the synaptic alterations in the VPA rat model.
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32. Wang J, Yang Z, Chen C, Xu Y, Wang H, Liu B, Zhang W, Jiang Y. Comprehensive circRNA Expression Profile and Construction of circRNAs-Related ceRNA Network in a Mouse Model of Autism. Front Genet. 2020 ; 11 : 623584.
Autism is a common disease that seriously affects the quality of life. The role of circular RNAs (circRNAs) in autism remains largely unexplored. We aimed to detect the circRNA expression profile and construct a circRNA-based competing endogenous RNA (ceRNA) network in autism. Valproate acid was used to establish an in vivo model of autism in mice. A total of 1,059 differentially expressed circRNAs (477 upregulated and 582 downregulated) in autism group was identified by RNA sequencing. The expression of novel_circ_015779 and novel_circ_035247 were detected by real-time PCR. A ceRNA network based on altered circRNAs was established, with 9,715 nodes and 150,408 edges. Module analysis was conducted followed by GO and KEGG pathway enrichment analysis. The top three modules were all correlated with autism-related pathways involving « TGF-beta signaling pathway, » « Notch signaling pathway, » « MAPK signaling pathway, » « long term depression, » « thyroid hormone signaling pathway, » etc. The present study reveals a novel circRNA involved mechanisms in the pathogenesis of autism.
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33. Wang Q, Li HY, Li YD, Lv YT, Ma HB, Xiang AF, Jia XZ, Liu DQ. Resting-state abnormalities in functional connectivity of the default mode network in autism spectrum disorder : a meta-analysis. Brain Imaging Behav. 2021.
Increasing evidence has shown that the resting state brain connectivity of default mode network (DMN) which are important for social cognition are disrupted in autism spectrum disorder (ASD). However, previous neuroimaging studies did not present consistent results. Therefore, we performed a meta-analysis of resting-state functional connectivity (rsFC) studies of DMN in the individuals with ASD and healthy controls (HCs) to provide a new perspective for investigating the pathophysiology of ASD. We carried out a search using the terms : (« ASD » OR « Autism ») AND (« resting state » OR « rest ») AND (« DMN » OR « default mode network ») in PubMed, Web of Science and Embase to identify the researches published before January 2020. Ten resting state datasets including 203 patients and 208 HCs were included. Anisotropic Effect Size version of Signed Differential Mapping (AES-SDM) method was applied to identify group differences. In comparison with the HCs, the patients with ASD showed increased connectivity in cerebellum, right middle temporal gyrus, superior occipital gyrus, right supramarginal gyrus, supplementary motor area and putamen. Decreased connectivity was discovered in some nodes of DMN, such as medial prefrontal cortex, precuneus and angular gyrus. These results may help us to further clarify the neurobiological mechanisms in patients with ASD.
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34. Wang Z, Li J, Zhang T, Lu T, Wang H, Jia M, Liu J, Xiong J, Zhang D, Wang L. Family-based association study identifies SNAP25 as a susceptibility gene for autism in the Han Chinese population. Prog Neuropsychopharmacol Biol Psychiatry. 2021 ; 105 : 109985.
Autism is a neurodevelopmental disorder with high heritability. Synaptosome associated protein 25 (SNAP25) encodes a presynaptic membrane-binding protein. It plays a crucial role in neurotransmission and may be involved in the pathogenesis of autism. However, the association between SNAP25 and autism in the Han Chinese population remains unclear. To investigate whether single nucleotide polymorphisms (SNPs) in SNAP25 contribute to the risk of autism, we performed a family-based association study of 14 tagSNPs in SNAP25 in 640 Han Chinese autism trios. Our results demonstrated that rs363018 in SNAP25 was significantly associated with autism under both additive (A > G, Z = 3.144, P = .0017) and recessive models (A > G, Z = 3.055, P = .0023) after Bonferroni correction (P < .0036). An additional SNP, rs8636, was nominally associated with autism under the recessive model (C > T, Z = 1.972, P = .0487). Haplotype-based association test revealed that haplotypes A-T (Z = 2.038, P = .0415) and G-T (Z = -3.114, P = .0018) of rs363018-rs362582 were significantly associated with autism after the permutation test (P = .0158). These findings suggest that SNAP25 may represent a susceptibility gene for autism in the Han Chinese population.
