1. Ainsworth K, Ostrolenk A, Irion C, Bertone A. {{Reduced multisensory facilitation exists at different periods of development in autism}}. {Cortex}. 2020; 134: 195-206.
Atypical sensory processing is now recognised as a key component of an autism diagnosis. The integration of multiple sensory inputs (multisensory integration (MSI)) is thought to be idiosyncratic in autistic individuals and may have cascading effects on the development of higher-level skills such as social communication. Multisensory facilitation was assessed using a target detection paradigm in 45 autistic and 111 neurotypical individuals, matched on age and IQ. Target stimuli were: auditory (A; 3500 Hz tone), visual (V; white disk ‘flash’) or audiovisual (AV; simultaneous tone and flash), and were presented on a dark background in a randomized order with varying stimulus onset delays. Reaction time (RT) was recorded via button press. In order to assess possible developmental effects, participants were divided into younger (age 14 or younger) and older (age 15 and older) groups. Redundancy gain (RG) was significantly greater in neurotypical, compared to autistic individuals. No significant effect of age or interaction was found. Race model analysis was used to compute a bound value that represented the facilitation effect provided by MSI. Our results revealed that MSI facilitation occurred (violation of the race model) in neurotypical individuals, with more efficient MSI in older participants. In both the younger and older autistic groups, we found reduced MSI facilitation (no or limited violation of the race model). Autistic participants showed reduced multisensory facilitation compared to neurotypical participants in a simple target detection task, void of social context. This remained consistent across age. Our results support evidence that autistic individuals may not integrate low-level, non-social information in a typical fashion, adding to the growing discussion around the influential effect that basic perceptual atypicalities may have on the development of higher-level, core aspects of autism.
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2. Bhat AN. {{Motor Impairment Increases in Children With Autism Spectrum Disorder as a Function of Social Communication, Cognitive and Functional Impairment, Repetitive Behavior Severity, and Comorbid Diagnoses: A SPARK Study Report}}. {Autism Res}. 2020.
Eighty-seven percent of a large sample of children with autism spectrum disorder (ASD) are at risk for motor impairment (Bhat, Physical Therapy, 2020, 100, 633-644). In spite of the high prevalence for motor impairment in children with ASD, it is not considered among the diagnostic criteria or specifiers within DSM-V. In this article, we analyzed the SPARK study dataset (n = 13,887) to examine associations between risk for motor impairment using the Developmental Coordination Disorder-Questionnaire (DCD-Q), social communication impairment using the Social Communication Questionnaire (SCQ), repetitive behavior severity using the Repetitive Behaviors Scale – Revised (RBS-R), and parent-reported categories of cognitive, functional, and language impairments. Upon including children with ASD with cognitive impairments, 88.2% of the SPARK sample was at risk for motor impairment. The relative risk ratio for motor impairment in children with ASD was 22.2 times greater compared to the general population and that risk further increased up to 6.2 with increasing social communication (5.7), functional (6.2), cognitive (3.8), and language (1.6) impairments as well as repetitive behavior severity (5.0). Additionally, the magnitude of risk for motor impairment (fine- and gross-motor) increased with increasing severity of all impairment types with medium to large effects. These findings highlight the multisystem nature of ASD, the need to recognize motor impairments as one of the diagnostic criteria or specifiers for ASD, and the need for appropriate motor screening and assessment of children with ASD. Interventions must address not only the social communication and cognitive/behavioral challenges of children with ASD but also their motor function and participation. LAY ABSTRACT: Eighty-eight percent of the SPARK sample of children with ASD were at risk for motor impairment. The relative risk for motor impairment was 22.2 times greater in children with ASD compared to the general population and the risk increased with more social communication, repetitive behavior, cognitive, and functional impairment. It is important to recognize motor impairments as one of the diagnostic criteria or specifiers for ASD and there is a need to administer appropriate motor screening, assessment, and interventions in children with ASD.
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3. Carlisle GK, Johnson RA, Wang Z, Bibbo J, Cheak-Zamora N, Lyons LA. {{Exploratory study of cat adoption in families of children with autism: Impact on children’s social skills and anxiety}}. {Journal of pediatric nursing}. 2020; 58: 28-35.
PURPOSE: The diagnosis of Autism Spectrum Disorder (ASD) occurs in one in 54 children and companion animals (CA) are common in families of children with ASD. Despite evidence of CA ownership benefits for children with ASD, little is known about cats. The purpose was to explore the impact of shelter cat adoption by families of children with ASD. DESIGN AND METHODS: This was the first randomized controlled trial of adoption of a temperament screened cat by families of children with ASD. Families assigned to the treatment group adopted a cat and were followed for 18 weeks. Families assigned to the control group were followed for 18 weeks without intervention, then converted to treatment, by adopting a cat and were followed another 18 weeks. Adopted cats were screened using the Feline Temperament Profile to identify a calm temperament. Surveys measured children’s social skills and anxiety and parent/child cat bonding. RESULTS: Our study (N = 11) found cat adoption was associated with greater Empathy and less Separation Anxiety for children with ASD, along with fewer problem behaviors including Externalizing, Bullying and Hyperactivity/Inattention. Parents and children reported strong bonds to the cats. CONCLUSION: This exploratory study found introduction of a cat into the home may have a positive impact on children with ASD and their parents. Based on this intial finding, future studies with larger sample sizes are recommended. PRACTICE IMPLICATIONS: If parents of children with ASD are considering cat adoption, health care providers might consider recommending adoption of a cat screened for calm temperament.
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4. Chapman R, Veit W. {{« The essence of autism: face or artefact? »}}. {Mol Psychiatry}. 2020.
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5. Lai M, Lee J, Chiu S, Charm J, So WY, Yuen FP, Kwok C, Tsoi J, Lin Y, Zee B. {{A machine learning approach for retinal images analysis as an objective screening method for children with autism spectrum disorder}}. {EClinicalMedicine}. 2020; 28: 100588.
BACKGROUND: Autism spectrum disorder (ASD) is characterised by many of features including problem in social interactions, different ways of learning, some children showing a keen interest in specific subjects, inclination to routines, challenges in typical communication, and particular ways of processing sensory information. Early intervention and suitable supports for these children may make a significant contribution to their development. However, considerable difficulties have been encountered in the screening and diagnosis of ASD. The literature has indicated that certain retinal features are significantly associated with ASD. In this study, we investigated the use of machine learning approaches on retinal images to further enhance the classification accuracy. METHODS: Forty-six ASD participants were recruited from three special needs schools and 24 normal control were recruited from the community. Among them, 23 age-gender matched ASD and normal control participant-pairs were constructed for the primary analysis. All retinal images were captured using a nonmydriatic fundus camera. Automatic retinal image analysis (ARIA) methodology applying machine-learning technology was used to optimise the information of the retina to develop a classification model for ASD. The model’s validity was then assessed using a 10-fold cross-validation approach to assess its validity. FINDINGS: The sensitivity and specificity were 95.7% (95% CI 76.0%, 99.8%) and 91.3% (95% CI 70.5%, 98.5%) respectively. The area under the ROC curve was 0.974 (95% CI 0.934, 1.000); however, it was noted that the specificity for female participants might not be as high as that for male participants. INTERPRETATION: Because ARIA is a fully automatic cloud-based algorithm and relies only on retinal images, it can be used as a risk assessment tool for ASD screening. Further diagnosis and confirmation can then be made by professionals, and potential treatment may be provided at a relatively early stage.
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6. Maietta JE, Barchard KA, Kuwabara HC, Donohue BD, Ross SR, Kinsora TF, Allen DN. {{Influence of Special Education, ADHD, Autism, and Learning Disorders on ImPACT Validity Scores in High School Athletes}}. {Journal of the International Neuropsychological Society : JINS}. 2020: 1-11.
OBJECTIVE: The Immediate Post-Concussion Assessment and Cognitive Testing (ImPACT) is commonly used to assist with post-concussion return-to-play decisions for athletes. Additional investigation is needed to determine whether embedded indicators used to determine the validity of scores are influenced by the presence of neurodevelopmental disorders (NDs). METHOD: This study examined standard and novel ImPACT validity indicators in a large sample of high school athletes (n = 33,772) with or without self-reported ND. RESULTS: Overall, 7.1% of athletes’ baselines were judged invalid based on standard ImPACT validity criteria. When analyzed by group (healthy, ND), there were significantly more invalid ImPACT baselines for athletes with an ND diagnosis or special education history (between 9.7% and 54.3% for standard and novel embedded validity criteria) when compared to athletes without NDs. ND history was a significant predictor of invalid baseline performance above and beyond other demographic characteristics (i.e., age, sex, and sport), although it accounted for only a small percentage of variance. Multivariate base rates are presented stratified for age, sex, and ND. CONCLUSIONS: These data provide evidence of higher than normal rates of invalid baselines in athletes who report ND (based on both the standard and novel embedded validity indicators). Although ND accounted for a small percentage of variance in the prediction of invalid performance, negative consequences (e.g., extended time out of sports) of incorrect decision-making should be considered for those with neurodevelopmental conditions. Also, reasons for the overall increase noted here, such as decreased motivation, « sandbagging », or disability-related cognitive deficit, require additional investigation.
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7. Mann C, Schäfer T, Bletsch A, Gudbrandsen M, Daly E, Suckling J, Bullmore ET, Lombardo MV, Lai MC, Craig MC, Baron-Cohen S, Murphy DGM, Ecker C. {{Examining volumetric gradients based on the frustum surface ratio in the brain in autism spectrum disorder}}. {Hum Brain Mapp}. 2020.
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that is accompanied by neurodevelopmental differences in regional cortical volume (CV), and a potential layer-specific pathology. Conventional measures of CV, however, do not indicate how volume is distributed across cortical layers. In a sample of 92 typically developing (TD) controls and 92 adult individuals with ASD (aged 18-52 years), we examined volumetric gradients by quantifying the degree to which CV is weighted from the pial to the white surface of the brain. Overall, the spatial distribution of Frustum Surface Ratio (FSR) followed the gyral and sulcal pattern of the cortex and approximated a bimodal Gaussian distribution caused by a linear mixture of vertices on gyri and sulci. Measures of FSR were highly correlated with vertex-wise estimates of mean curvature, sulcal depth, and pial surface area, although none of these features explained more than 76% variability in FSR on their own. Moreover, in ASD, we observed a pattern of predominant increases in the degree of FSR relative to TD controls, with an atypical neurodevelopmental trajectory. Our findings suggest a more outward-weighted gradient of CV in ASD, which may indicate a larger contribution of supragranular layers to regional differences in CV.
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8. McKenna F, Miles L, Donaldson J, Castellanos FX, Lazar M. {{Diffusion kurtosis imaging of gray matter in young adults with autism spectrum disorder}}. {Sci Rep}. 2020; 10(1): 21465.
Prior ex vivo histological postmortem studies of autism spectrum disorder (ASD) have shown gray matter microstructural abnormalities, however, in vivo examination of gray matter microstructure in ASD has remained scarce due to the relative lack of non-invasive methods to assess it. The aim of this work was to evaluate the feasibility of employing diffusional kurtosis imaging (DKI) to describe gray matter abnormalities in ASD in vivo. DKI data were examined for 16 male participants with a diagnosis of ASD and IQ>80 and 17 age- and IQ-matched male typically developing (TD) young adults 18-25 years old. Mean (MK), axial (AK), radial (RK) kurtosis and mean diffusivity (MD) metrics were calculated for lobar and sub-lobar regions of interest. Significantly decreased MK, RK, and MD were found in ASD compared to TD participants in the frontal and temporal lobes and several sub-lobar regions previously associated with ASD pathology. In ASD participants, decreased kurtosis in gray matter ROIs correlated with increased repetitive and restricted behaviors and poor social interaction symptoms. Decreased kurtosis in ASD may reflect a pathology associated with a less restrictive microstructural environment such as decreased neuronal density and size, atypically sized cortical columns, or limited dendritic arborizations.
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9. Oliver LD, Moxon-Emre I, Lai MC, Grennan L, Voineskos AN, Ameis SH. {{Social Cognitive Performance in Schizophrenia Spectrum Disorders Compared With Autism Spectrum Disorder: A Systematic Review, Meta-analysis, and Meta-regression}}. {JAMA Psychiatry}. 2020.
IMPORTANCE: Schizophrenia spectrum disorders (SSDs) and autism spectrum disorder (ASD) both feature social cognitive deficits; however, these disorders historically have been examined separately using a range of tests and subdomain focus and at different time points in the life span. Moving beyond diagnostic categories and characterizing social cognitive deficits can enhance understanding of shared pathways across these disorders. OBJECTIVE: To investigate how deficits in social cognitive domains diverge or overlap between SSDs and ASD based on the extant literature. DATA SOURCES: Literature searches were conducted in MEDLINE, PsycInfo, Embase, and Web of Science from database inception until July 26, 2020. STUDY SELECTION: Original research articles were selected that reported performance-based measures of social cognition in both SSDs and ASD samples. Selected articles also had to be published in English and use International Statistical Classification of Diseases and Related Health Problems, Tenth Revision, DSM-IV, or more recent diagnostic criteria. DATA EXTRACTION AND SYNTHESIS: This systematic review and meta-analysis was conducted according to Preferred Reporting Items for Systematic Reviews and Meta-analyses and Meta-analysis of Observational Studies in Epidemiology reporting guidelines, including data extraction and quality assessment using a modified version of the Newcastle-Ottawa Scale. Data were pooled using a random-effects model. MAIN OUTCOMES AND MEASURES: Effect sizes were calculated as Hedges g (SSDs vs ASD). The primary outcomes were performance on emotion processing tasks, theory of mind (ToM) tasks, and the Reading the Mind in the Eyes Test (RMET) in SSDs compared with ASD. Meta-regressions were performed for age difference, publication year, quality assessment scores, and antipsychotic medication use. RESULTS: Of the 4175 screened articles, 36 studies directly comparing social cognitive performance in individuals with SSDs vs ASD were included in the qualitative analysis (n = 1212 for SSDs groups and n = 1109 for ASD groups), and 33 studies were included in the quantitative analyses (n = 1113 for SSDs groups and n = 1015 for ASD groups). Most study participants were male (number of studies [k] = 36, 72% [878 of 1212] in SSDs groups and 82% [907 of 1109] in ASD groups), and age (k = 35) was older in SSDs groups (mean [SD], 28.4 [9.5] years) than in ASD groups (mean [SD], 23.3 [7.6] years). Included studies highlighted the prevalence of small, male-predominant samples and a paucity of cross-disorder clinical measures. The meta-analyses revealed no statistically significant differences between SSDs and ASD on emotion processing measures (k = 15; g = 0.12 [95% CI, -0.07 to 0.30]; P = .21; I2 = 51.0%; 1 outlier excluded), ToM measures (k = 17; g = -0.01 [95% CI, -0.21 to 0.19]; P = .92; I2 = 56.5%; 1 outlier excluded), or the RMET (k = 13; g = 0.25 [95% CI, -0.04 to 0.53]; P = .10; I2 = 75.3%). However, SSDs vs ASD performance differences between studies were statistically significantly heterogeneous, which was only minimally explained by potential moderators. CONCLUSIONS AND RELEVANCE: In this analysis, similar levels of social cognitive impairment were present, on average, in individuals with SSDs and ASD. Cross-disorder studies of social cognition, including larger samples, consensus batteries, and consistent reporting of measures, as well as data across multiple levels of analysis, are needed to help identify subgroups within and across disorders that may be more homogeneous in etiology and treatment response.
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10. Ramaekers VT, Sequeira JM, Thöny B, Quadros EV. {{Oxidative Stress, Folate Receptor Autoimmunity, and CSF Findings in Severe Infantile Autism}}. {Autism research and treatment}. 2020; 2020: 9095284.
BACKGROUND: Biomarkers such as oxidative stress, folate receptor alpha (FRα) autoimmunity, and abnormal brain serotonin turnover are common in autism. METHODS: Oxidative stress biomarkers with pro- and antioxidants were measured in the severe form of infantile autism (n = 38) and controls (n = 24). Children and parents had repeated testing for serum FR autoantibodies, spinal fluid dopamine and serotonin metabolites, pterins, and N(5)-methyltetrahydrofolate (MTHF). Statistical analysis assessed correlations between variables. Genetic analysis included the SLC6A4 and SLC29A4 genes encoding synaptic serotonin reuptake proteins. RESULTS: Compared to controls, the autism group showed a significant increase in oxidative DNA damage in lymphocytes, plasma ceruloplasmin and copper levels with a high copper/zinc ratio, thiol proteins, and superoxide dismutase (SOD) activity. Vitamin C levels were significantly diminished. In most autistic patients, the vitamin A (64%) and D (70%) levels were low. Serum FR autoantibodies fluctuating over 5-7 week periods presented in 68% of all autistic children, 41% of parents vs. 3.3% of control children and their parents. CSF showed lowered serotonin 5-hydroxyindole acetic acid (5HIAA) metabolites in 13 (34%), a low 5HIAA to HVA (dopamine metabolite) ratio in 5 (13%), low 5HIAA and MTHF in 2 (5%), and low MTHF in 8 patients (21%). A known SLC6A4 mutation was identified only in 1 autistic child with low CSF 5HIAA and a novel SLC29A4 mutation was identified in identical twins. Low CSF MTHF levels among only 26% of subjects can be explained by the fluctuating FR antibody titers. Two or more aberrant pro-oxidant and/or antioxidant factors predisposed to low CSF serotonin metabolites. Three autistic children having low CSF 5HIAA and elevated oxidative stress received antioxidative supplements followed by CSF 5HIAA normalisation. CONCLUSION: In autism, we found diverse combinations for FR autoimmunity and/or oxidative stress, both amenable to treatment. Parental and postnatal FR autoantibodies tend to block folate passage to the brain affecting folate-dependent pathways restored by folinic acid treatment, while an abnormal redox status tends to induce reduced serotonin turnover, corrected by antioxidant therapy. Trial Registration. The case-controlled study was approved in 2008 by the IRB at Liège University (Belgian Number: B70720083916). Lay Summary. Children with severe infantile autism frequently have serum folate receptor autoantibodies that block the transport of the essential vitamin folate across the blood-brain barrier to the brain. Parents are often asymptomatic carriers of these serum folate receptor autoantibodies, which in mothers can block folate passage across the placenta to their unborn child. This folate deficiency during the child’s intrauterine development may predispose to neural tube defects and autism. Oxidative stress represents a condition with the presence of elevated toxic oxygen derivatives attributed to an imbalance between the formation and protection against these toxic reactive oxygen derivatives. Oxidative stress was found to be present in autistic children where these reactive oxygen derivatives can cause damage to DNA, which changes DNA function and regulation of gene expression. In addition, excessive amounts of these toxic oxygen derivatives are likely to damage the enzyme producing the neuromessenger serotonin in the brain, diminished in about 1/3 of the autistic children. Testing children with autism for oxidative stress and its origin, as well as testing for serum folate receptor autoantibodies, could open new approaches towards more effective treatments.
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11. Riccio MP, Catone G, Siracusano R, Occhiati L, Bernardo P, Sarnataro E, Corrado G, Bravaccio C. {{Vitamin D deficiency is not related to eating habits in children with Autistic Spectrum Disorder}}. {AIMS public health}. 2020; 7(4): 792-803.
BACKGROUND AND AIMS: Autism Spectrum Disorder (ASD) is characterized by the impairment of communication and social interaction and by repetitive, restricted and stereotyped interests. ASD is often accompanied by comorbidities; eating disorders are frequent and imply important nutritional deficits (i.e. deficiencies of vitamins, minerals and fatty acids). Vitamin D has a critical role in neurodevelopment and serum levels in ASD are reported inadequate. A useful reference for setting up a correct diet in childhood is the food pyramid, which is inspired by the Mediterranean Diet (MD). The MD guarantees an intake of nutrients, considered optimal to maintain an adequate nutritional status. The aim of this study is to explore serum levels of Vitamin D and food habits (through MD adherence) in a sample of children with ASD and evaluate a possible correlation between these factors. METHODS: study participants include 91 children 47 presenting ASD and 44 healthy typically-developing (TD) subjects, as control group. We evaluated serum level of Vitamin D in both group; anthropometric parameters (weight, height, body mass index-BMI-and growth percentile) and MD adherence have been explored, in order to investigate the correlation among those data and level of Vitamin D in children with ASD. Lastly, the association between Vitamin D levels and severity of ASD symptoms has been analysed. RESULTS AND CONCLUSION: 74% of ASD group presented blood levels of Vitamin D under 30 ng/ml (normal range 30-100 ng/ml). The analysis performed showed that the two groups were significant different regards Vitamin D levels (t = 2.24, p < 0.05), according to literature. 31.9% of children with ASD presented a condition of overweight and 12.6% a condition of obesity. Adherence to the MD was low in 25.5% of cases. No significant statistical correlation has been found between Vitamin D serum levels, anthropometric parameters and the adherence to MD in the ASD group. Lien vers le texte intégral (Open Access ou abonnement)
12. Saul J, Norbury C. {{Feasibility of an app-based parent-mediated speech production intervention for minimally verbal autistic children: development and pilot testing of a new intervention}}. {Pilot and feasibility studies}. 2020; 6(1): 185.
BACKGROUND: Training speech production skills may be a valid intervention target for minimally verbal autistic children. Intervention studies have explored various approaches albeit on a small scale and with limited experimental control or power. We therefore designed a novel app-based parent-mediated intervention based on insights from the video modelling and cued articulation literature and tested its acceptability and usage. METHODS: Consultation with the autism community refined the initial design and culminated in a pilot trial (n = 19) lasting 16 weeks. Participants were randomly allocated an intervention duration in an AB phase design and undertook weekly probes during baseline and intervention via the app. We evaluated the acceptability of the intervention via feedback questionnaires and examined the usability variables such as adherence to the testing and intervention schedule, time spent on the app and trials completed during the intervention phase. RESULTS: High acceptability scores indicated that families liked the overall goals and features of the app. Ten participants engaged meaningfully with the app, completing 82% of the test trials and uploading data in 61% of intervention weeks; however, of these, only three met the targeted 12.5 min of intervention per week. CONCLUSION: We discuss the possible reasons for variability in usage data and how barriers to participation could be surmounted in the future development of this intervention.
