1. Buffle P, Cavadini T, Posada A, Gentaz E. A study on visual preference for social stimuli in typical Ecuadorian preschoolers as a contribution to the identification of autism risk factors. Scientific reports. 2021; 11(1): 8461.

The goal of this study was to examine the visual preference towards socially salient stimuli, using a low-cost eye-tracking device in a group of typically developing (TD) Ecuadorian preschoolers aged 11 to 60 months, from rural and urban areas, and from families with low to high socioeconomic status (SES). Series of original stimuli inspired by those used in Western experiments on the early detection of Autism Spectrum Disorder (ASD) were proposed in two eye-tracking tasks. Two types of movements (human vs. object) were presented in task 1, and dynamic speaking faces in task 2. Parental perceptions of the adaptability of the low-cost eye-tracking device used here were also investigated through a questionnaire. The analyses of mean fixation times showed a visual preference for human movements compared to moving objects whatever age, residency location or SES. In task 2, visual preference for the mouth’s area compared to the eyes’ area was observed in specific conditions, modulated by residency location and SES but not by age. The analyses of the parental perception indicated that the eye-tracking technique is well accepted. The findings suggest that these stimuli, along with the experimental procedure and low-cost eye-tracking device used in the present study may be a relevant tool that can be used in clinical settings as a contribution to the early identification of at-risk factors of ASD in low- and middle-income contexts.

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2. Casanova MF, Shaban M, Ghazal M, El-Baz AS, Casanova EL, Sokhadze EM. Ringing Decay of Gamma Oscillations and Transcranial Magnetic Stimulation Therapy in Autism Spectrum Disorder. Applied psychophysiology and biofeedback. 2021; 46(2): 161-73.

Research suggest that in autism spectrum disorder (ASD) a disturbance in the coordinated interactions of neurons within local networks gives rise to abnormal patterns of brainwave activity in the gamma bandwidth. Low frequency transcranial magnetic stimulation (TMS) over the dorsolateral prefrontal cortex (DLPFC) has been proven to normalize gamma oscillation abnormalities, executive functions, and repetitive behaviors in high functioning ASD individuals. In this study, gamma frequency oscillations in response to a visual classification task (Kanizsa figures) were analyzed and compared in 19 ASD (ADI-R diagnosed, 14.2 ± 3.61 years old, 5 girls) and 19 (14.8 ± 3.67 years old, 5 girls) age/gender matched neurotypical individuals. The ASD group was treated with low frequency TMS (1.0 Hz, 90% motor threshold, 18 weekly sessions) targeting the DLPFC. In autistic subjects, as compared to neurotypicals, significant differences in event-related gamma oscillations were evident in amplitude (higher) pre-TMS. In addition, recordings after TMS treatment in our autistic subjects revealed a significant reduction in the time period to reach peak amplitude and an increase in the decay phase (settling time). The use of a novel metric for gamma oscillations. i.e., envelope analysis, and measurements of its ringing decay allowed us to characterize the impedance of the originating neuronal circuit. The ringing decay or dampening of gamma oscillations is dependent on the inhibitory tone generated by networks of interneurons. The results suggest that the ringing decay of gamma oscillations may provide a biomarker reflective of the excitatory/inhibitory balance of the cortex and a putative outcome measure for interventions in autism.

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3. Channell MM, Mattie LJ, Hamilton DR, Capone GT, Mahone EM, Sherman SL, Rosser TC, Reeves RH, Kalb LG. Capturing cognitive and behavioral variability among individuals with Down syndrome: a latent profile analysis. Journal of neurodevelopmental disorders. 2021; 13(1): 16.

BACKGROUND: There is a high degree of inter- and intra-individual variability observed within the phenotype of Down syndrome. The Down Syndrome Cognition Project was formed to capture this variability by developing a large nationwide database of cognitive, behavioral, health, and genetic information on individuals with Down syndrome, ages 6-25 years. The current study used the Down Syndrome Cognition Project database to characterize cognitive and behavioral variability among individuals with Down syndrome. METHODS: Latent profile analysis was used to identify classes across a sample of 314 participants based on their cognition (IQ and executive functioning), adaptive and maladaptive behavior, and autism spectrum disorder symptomatology. A multivariate multinomial regression model simultaneously examined demographic correlates of class. RESULTS: Results supported a 3-class model. Each class demonstrated a unique profile across the subdomains of cognition and behavior. The « normative » class was the largest (n = 153, 48%) and displayed a relatively consistent profile of cognition and adaptive behavior, with low rates of maladaptive behavior and autism symptomatology. The « cognitive » class (n = 109, 35%) displayed low cognitive scores and adaptive behavior and more autism symptomatology, but with low rates of maladaptive behavior. The « behavioral » class, the smallest group (n = 52, 17%), demonstrated higher rates of maladaptive behavior and autism symptomatology, but with cognition levels similar to the « normative » class; their adaptive behavior scores fell in between the other two classes. Household income and sex were the only demographic variables to differ among classes. CONCLUSIONS: These findings highlight the importance of subtyping the cognitive and behavioral phenotype among individuals with Down syndrome to identify more homogeneous classes for future intervention and etiologic studies. Results also demonstrate the feasibility of using latent profile analysis to distinguish subtypes in this population. Limitations and future directions are discussed.

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4. Constantino JN. New guidance to seekers of autism biomarkers: an update from studies of identical twins. Molecular autism. 2021; 12(1): 28.

BACKGROUND: The autism spectrum disorders (ASD) are common neuropsychiatric conditions of childhood for which the vast proportion of population risk is attributable to inheritance, and for which there exist few if any replicated biomarkers. MAIN BODY: This commentary summarizes a set of recent studies involving identical (monozygotic, MZ) twins which, taken together, have significant implications for the search for biomarkers of inherited susceptibility to autism. A first is that variation-in-severity of the condition (above the threshold for clinical diagnosis) appears more strongly influenced by stochastic/non-shared environmental influences than by heredity. Second is that there exist disparate early behavioral predictors of the familial recurrence of autism, which are themselves strongly genetically influenced but largely independent from one another. The nature of these postnatal predictors is that they are trait-like, continuously distributed in the general population, and largely independent from variation in general cognition, thereby reflecting a developmental substructure for familial autism. A corollary of these findings is that autism may arise as a developmental consequence of an allostatic load of earlier-occurring liabilities, indexed by early behavioral endophenotypes, in varying permutations and combinations. The clinical threshold can be viewed as a « tipping point » at which stochastic influences and/or other non-shared environmental influences assert much stronger influence on variation-in-severity (a) than do the genetic factors which contributed to the condition in the first place, and (b) than is observed in typical development. CONCLUSION: Biomarkers identified on the basis of association with clinical symptom severity in ASD may reflect effects rather than causes of autism. The search for biomarkers of pathogenesis may benefit from a greater focus on traits that predict autism recurrence, among both clinical and general populations. In case-control studies, salient developmental liabilities should be systematically measured in both cases and controls, to avoid the erosion in statistical power (i.e., to detect differences) that can occur if control subjects carry sub-clinical aggregations of the same unmeasured traits that exert causal influences on the development of autism.

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5. Denisova K. Genetic vulnerability of exposures to antenatal maternal treatments in 1- to 2-month-old infants. Infancy : the official journal of the International Society on Infant Studies. 2021; 26(3): 515-32.

The growth and maturation of the nervous system are vulnerable during pregnancy. The impact of antenatal exposures to maternal treatments, in the context of genetic vulnerability of the fetus, on sensorimotor functioning in early infancy remains unexplored. Statistical features of head movements obtained from resting-state sleep fMRI scans are examined in 1- to 2-month-old infants, both those at high risk (HR) for autism spectrum disorder (ASD) due to a biological sibling with ASD and at low risk (LR) (N = 56). In utero exposures include maternal prescription medications (psychotropic Rx: N = 3(HR) ; N = 5(LR) vs. non-psychotropic Rx: N = 11(HR) ; N = 9(LR) vs. none: N = 11(HR) ; N = 16(LR) ), psychiatric diagnoses (two or more Dx(2) : N = 5(HR) ; N = 1(LR) ; one Dx(1) : N = 4(HR) ; N = 5(LR) ; no Dx: N = 12(HR) ; N = 19(LR) ), infections requiring antibiotics (infection: N = 5(HR) ; N = 8(LR) ; no infection: N = 20(HR) ; N = 22(LR) ), or high fever (fever: N = 2(HR) ; N = 2(LR) ; no fever: N = 23(HR) ; N = 27(LR) ). Movements with significantly higher variability are detected in infants exposed to psychotropics (e.g., opioid analgesics) and those whose mothers had fever, and this effect is significantly worse for infants at HR for ASD. Movements are significantly less variable in HR infants with non-psychotropic exposures (e.g., antibiotics). Heightened number of psychiatric or mental health conditions is associated with noisier movements in both risk groups. Genetic vulnerability due to in utero exposure to maternal treatments is an important future approach to be advanced in the field of early mind and brain development.

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6. Dong L, Shen B, Pang Y, Zhang M, Xiang Y, Xing Y, Wright M, Li D, Bo J. FMS Effects of a Motor Program for Children With Autism Spectrum Disorders. Perceptual and motor skills. 2021; 128(4): 1421-42.

The current study evaluated the effectiveness of a motor program that specifically targeted fundamental motor skills (FMS) in children with ASD. The experimental group (n=21) participated in a 9-week program with motor instructions for 80 minutes/day, three days/week, while the control group (n=29) did not participate in the program. We measured FMS (using the Test of Gross Motor Development-3) one-week before, one-week after, and two-months after the program. Children in the experimental group had significantly larger FMS improvements than the controls on both locomotor and ball skills immediately following the program, and these participants showed continuous improvement on locomotor, but not ball skills, at 2-months follow-up. In individual analyses, 80% of children in the experimental group versus 29% of children in the control group showed continuous locomotor skills improvement beyond their pre-test levels. These findings highlight the importance of both a long-term motor development intervention and an individualized approach for evaluating improved FMS among children with ASD.

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7. Lloyd RO, O’Toole JM, Livingstone V, Filan PM, Boylan GB. Can EEG accurately predict 2-year neurodevelopmental outcome for preterm infants?. Archives of disease in childhood Fetal and neonatal edition. 2021; 106(5): 535-41.

OBJECTIVE: Establish if serial, multichannel video electroencephalography (EEG) in preterm infants can accurately predict 2-year neurodevelopmental outcome. DESIGN AND PATIENTS: EEGs were recorded at three time points over the neonatal course for infants <32 weeks' gestational age (GA). Monitoring commenced soon after birth and continued over the first 3 days. EEGs were repeated at approximately 32 and 35 weeks' postmenstrual age (PMA). EEG scores were based on an age-specific grading scheme. Clinical score of neonatal morbidity risk and cranial ultrasound imaging were completed. SETTING: Neonatal intensive care unit at Cork University Maternity Hospital, Ireland. MAIN OUTCOME MEASURES: Bayley Scales of Infant Development III at 2 years' corrected age. RESULTS: Sixty-seven infants were prospectively enrolled in the study and 57 had follow-up available (median GA 28.9 weeks (IQR 26.5-30.4)). Forty had normal outcome, 17 had abnormal outcome/died. All EEG time points were individually predictive of abnormal outcome; however, the 35-week EEG performed best. The area under the receiver operating characteristic curve (AUC) for this time point was 0.91 (95% CI 0.83 to 1), p<0.001. Comparatively, the clinical course AUC was 0.68 (95% CI 0.54 to 0.80, p=0.015), while abnormal cranial ultrasound was 0.58 (95% CI 0.41 to 0.75, p=0.342). CONCLUSION: Multichannel EEG is a strong predictor of 2-year outcome in preterm infants particularly when recorded around 35 weeks' PMA. Infants at high risk of brain injury may benefit from early postnatal EEG recording which, if normal, is reassuring. Postnatal clinical complications can contribute to poor outcome; therefore, we state that a later EEG around 35 weeks has a role to play in prognostication.

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8. Prigge MBD, Lange N, Bigler ED, King JB, Dean DC, 3rd, Adluru N, Alexander AL, Lainhart JE, Zielinski BA. A 16-year study of longitudinal volumetric brain development in males with autism. NeuroImage. 2021; 236: 118067.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with unknown brain etiology. Our knowledge to date about structural brain development across the lifespan in ASD comes mainly from cross-sectional studies, thereby limiting our understanding of true age effects within individuals with the disorder that can only be gained through longitudinal research. The present study describes FreeSurfer-derived volumetric findings from a longitudinal dataset consisting of 607 T1-weighted magnetic resonance imaging (MRI) scans collected from 105 male individuals with ASD (349 MRIs) and 125 typically developing male controls (258 MRIs). Participants were six to forty-five years of age at their first scan, and were scanned up to 5 times over a period of 16 years (average inter-scan interval of 3.7 years). Atypical age-related volumetric trajectories in ASD included enlarged gray matter volume in early childhood that approached levels of the control group by late childhood, an age-related increase in ventricle volume resulting in enlarged ventricles by early adulthood and reduced corpus callosum age-related volumetric increase resulting in smaller corpus callosum volume in adulthood. Larger corpus callosum volume was related to a lower (better) ADOS score at the most recent study visit for the participants with ASD. These longitudinal findings expand our knowledge of volumetric brain-based abnormalities in males with ASD, and highlight the need to continue to examine brain structure across the lifespan and well into adulthood.

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9. Selbera LM, Boyd LD, Vineyard J, Smallidge DL. Impact of Oral Health Education on the Knowledge, Behaviors, Attitudes, and Self-Efficacy of Caregivers for Individuals with Intellectual and Developmental Disabilities. Journal of dental hygiene : JDH. 2021; 95(2): 21-7.

Purpose: Individuals with intellectual and developmental disabilities (IDD) have a higher risk of oral disease and require assistance in performing oral self-care. The purpose of this study was to measure the impact of an oral health education program in improving caregivers’ oral health knowledge, attitudes, behavior, and self-efficacy in providing oral health care to clients with IDD, residing in intermediate care facilities.Methods: A non-probability sample of new hire caregivers (n=47) for clients with IDD residing in an intermediate care facility was used for this quasi-experimental study. A one-group repeated measures design was used to explore the effectiveness of an oral health education program. All variables were examined using summary statistics and evaluated for normality and statistical assumptions.Results: Forty-seven participants attended the oral health education program intervention and completed the pre- and post-intervention questionnaire. Seventy percent (n=33) completed the four-week post-questionnaire. A statistically significant (p=0.004) improvement in knowledge between the baseline questionnaire and four-week questionnaire was identified. Findings demonstrated slight increases in knowledge for caregivers with <1 year experience, and in those with previous medical training. No significant differences were found in behaviors or attitudes from baseline to the four-week follow up, however, there was a trend toward positive behavior changes.Conclusion: Increased knowledge alone is not adequate to bring about and maintain positive oral health behavior change. Longer-term caregiver interventions, in addition to on-site support for oral care, are warranted to evaluate outcomes for individuals with IDD with the goal of reducing the burden of oral disease.

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10. Srinivasan S, Ekbladh A, Freedman B, Bhat A. Needs assessment in unmet healthcare and family support services: A survey of caregivers of children and youth with autism spectrum disorder in Delaware. Autism research : official journal of the International Society for Autism Research. 2021; 14(8): 1736-58.

The study aimed to collect data from families of children and youth with Autism Spectrum Disorder (ASD) in the state of Delaware, USA to understand their ongoing needs and challenges in accessing child healthcare and family support services. We analyzed responses from 263 caregivers of children and youth with ASD from 3 to 24 years using a statewide needs assessment survey. Over 50% caregivers indicated having unmet needs relative to both child/youth healthcare services and family support services. Between 24 and 38% caregivers expressed unmet needs for healthcare services such as social skills training, speech-language therapy, behavioral intervention, and occupational therapy for their child and 20-24% expressed needs for family support services such as respite care, parent/sibling support groups, counseling, and babysitting support. Additionally, number of prior early interventions received, limitations in accessing healthcare services, and unmet needs for family support services significantly predicted child/youth unmet healthcare needs. Greater ASD severity and difficulties accessing child/youth healthcare services predicted participant’s functional dependence on caregivers for activities of daily living. Together, these findings call for designing holistic, family-centered interventions that address needs of both children and youth with ASD and their families. LAY SUMMARY: A statewide needs assessment survey of caregivers of children and youth with ASD revealed that 50% responders had unmet needs relative to both child/youth healthcare services and family support services. Number of prior services received, limitations in accessing healthcare, and unmet needs for family support are linked to child/youth unmet healthcare needs. Severity of autism and difficulties accessing child/youth healthcare are associated with participant’s functional dependence. Together, these findings call for placing the family at the heart of the service system in ASD.

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11. Teixeira JP, Ramalho TC. Regulation of Protein Synthesis: An Approach to Treat Autism Spectrum Disorder (ASD). Current medicinal chemistry. 2021; 28(34): 7141-56.

Autism Spectrum Disorder (ASD) is a disorder with different etiologies and poor elucidation, characterized by changes in social and cognitive skills. ASD impacts a large number of people in the world. Surprisingly, in spite of its great importance, just modest progress has been achieved towards comprehending this pathology and designing new therapies. The molecular dysfunctions observed in people with autism are evidenced by the interference in the synthesis of synaptic proteins, which impairs their development and plasticity, leading to characteristics of individuals with ASD. The present work investigates the mTOR pathway and the proteins related to its regulation and neurological functioning. The path of protein synthesis and translation is promising to treat various disorders and its elucidation may, for example, result in drugs that facilitate the diagnosis and broaden the range of treatments, improving the quality of life of ASD patients.

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12. Williams ZJ, Gotham KO. Assessing general and autism-relevant quality of life in autistic adults: A psychometric investigation using item response theory. Autism research : official journal of the International Society for Autism Research. 2021; 14(8): 1633-44.

Although many interventions and services for autistic people have the ultimate goal of improving quality of life (QoL), there is relatively little research on how best to assess this construct in the autistic population, and existing scales designed for non-autistic individuals may not assess all meaningful facets of QoL in the autistic population. To address this need, the autism spectrum QoL form (ASQoL) was recently developed as a measure of the autism-relevant quality of life. However, the psychometrics of the ASQoL have not been examined beyond the authors’ initial validation study, and important properties such as measurement invariance/differential item functioning (DIF) have not yet been tested. Using data from 700 autistic adults recruited from the Simons Foundation’s SPARK cohort, the current study sought to perform a comprehensive independent psychometric evaluation of the ASQoL using item response theory, comparing its performance to a newly-proposed brief measure of general QoL (the WHOQOL-4). Our models revealed substantial DIF by sex and gender in the ASQoL, which caused ASQoL scores to grossly underestimate the self-reported QoL of autistic women. Based on a comparison of latent variable means, we demonstrated that observed sex/gender differences in manifest ASQoL scores were the result of statistical artifacts, a claim that was further supported by the lack of significant group differences on the sex/gender-invariant WHOQOL-4. Our findings indicate that the ASQoL composite score is psychometrically problematic in its current form, and substantial revisions may be necessary before valid and meaningful inferences can be made regarding autism-relevant aspects of QoL. LAY SUMMARY: Quality of life (QoL) is an extremely important outcome for autistic people, but many of the tools that are used to measure it does not take into account how QoL may be different for autistic people. Using data from 700 autistic adults, we examined the measurement properties of the autism spectrum quality of life form (ASQoL), a new measure of QoL designed specifically for autistic people. Our results indicate that the ASQoL shows a pronounced sex/gender bias, which causes it to underestimate QoL in autistic women. This bias needs to be eliminated before the ASQoL can be successfully used to measure QoL in the autistic population.

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