1. Athar YM, Joseph S. {{The Human Fragile X Mental Retardation Protein Inhibits the Elongation Step of Translation through Its RGG and C-Terminal Domains}}. {Biochemistry}. 2020; 59(40): 3813-22.
The fragile X mental retardation protein (FMRP) is an RNA-binding protein that regulates the translation of numerous mRNAs in neurons. The precise mechanism of translational regulation by FMRP is unknown. Some studies have indicated that FMRP inhibits the initiation step of translation, whereas other studies have indicated that the elongation step of translation is inhibited by FMRP. To determine whether FMRP inhibits the initiation or the elongation step of protein synthesis, we investigated m(7)G-cap-dependent and IRES-driven, cap-independent translation of several reporter mRNAs in vitro. Our results show that FMRP inhibits both m(7)G-cap-dependent and cap-independent translation to similar degrees, indicating that the elongation step of translation is inhibited by FMRP. Additionally, we dissected the RNA-binding domains of hFMRP to determine the essential domains for inhibiting translation. We show that the RGG domain, together with the C-terminal domain (CTD), is sufficient to inhibit translation, while the KH domains do not inhibit mRNA translation. However, the region between the RGG domain and the KH2 domain may contribute as NT-hFMRP shows more potent inhibition than the RGG-CTD tail alone. Interestingly, we see a correlation between ribosome binding and translation inhibition, suggesting the RGG-CTD tail of hFMRP may anchor FMRP to the ribosome during translation inhibition.
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2. Cheak-Zamora N, Farmer JG, Crossman MK, Malow BA, Mazurek MO, Kuhlthau K, Stobbe G, Loftin R, Mirza-Agrawal M, Tapia M, Hess A, Davis K, Sohl K. {{Provider Perspectives on the Extension for Community Healthcare Outcomes Autism: Transition to Adulthood Program}}. {J Dev Behav Pediatr}. 2020.
OBJECTIVE: Despite their complex health care needs, transition-aged youth diagnosed with autism spectrum disorder (TAY-ASD) receive few transition services and describe difficulty finding adult providers. A 12-week primary care provider (PCP) training was developed to improve the delivery of transition services for TAY-ASD [Extension for Community Healthcare Outcomes (ECHO) Autism: Transition to Adulthood program]. The current study examines the PCPs’ perspectives and experiences of the program and application of the training material. METHODS: This study used a qualitative descriptive framework to explore the experiences and perspectives of 10 PCPs who completed the ECHO Autism: Transition to Adulthood program. Semistructured focus groups, conducted through Zoom videoconferencing, were used to explore these topics. RESULTS: Three overarching categories were identified: (1) beneficial and influential aspects of the ECHO, (2) perceived challenges, and (3) suggestions for improvements and adjustments. Overall, participants found the program highly beneficial, describing an increased sense of community and comprehensive recommendations from a multidisciplinary team. Challenges included difficulties participating in the program during clinical hours and difficulties meeting the educational needs of participants with a wide range of previous experience caring for TAY-ASD. Recommendations included embedding the location-specific material into the program to account for regional differences and the use of an online platform for participants to ask questions and discuss issues outside of the regular sessions. CONCLUSION: The study results can inform the development and implementation of new virtual PCP trainings and future ECHOs, including the revision and broad implementation of the ongoing ECHO Autism: Transition to Adulthood program.
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3. Corbett BA, Muscatello RA, Horrocks BK, Klemencic ME, Tanguturi Y. {{Differences in Body Mass Index (BMI) in Early Adolescents with Autism Spectrum Disorder Compared to Youth with Typical Development}}. {J Autism Dev Disord}. 2020.
Adolescence is a time of exceptional physical health juxtaposed against significant psychosocial and weight-related problems. The study included 241, 10-to-13-year-old youth with autism spectrum disorder (ASD, N = 138) or typical development (TD, N = 103). Standardized exams measured pubertal development, height (HT), weight (WT), heart rate (HR), blood pressure (BP) and Body Mass Index (BMI). Analysis of Variance showed no significant between-group differences for HT, WT, HR, or BP (all p > 0.05). There was a significant difference in BMI-percentile between the groups (F(1,234) = 6.05, p = 0.01). Using hierarchical linear regression, significant predictors of BMI-percentile included diagnosis, pubertal stage and socioeconomic status. Pre-to-early pubescent children with ASD evidence higher BMI percentiles compared to youth with TD suggesting they may be at heightened risk for weight-related health concerns.
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4. Corbett BA, Vandekar S, Muscatello RA, Tanguturi Y. {{Pubertal Timing During Early Adolescence: Advanced Pubertal Onset in Females with Autism Spectrum Disorder}}. {Autism Res}. 2020.
Autism spectrum disorder (ASD) is characterized by impaired social communication and poor adaptation to change; thus, the onset of puberty may be a pivotal transition. This cross-sectional study measured pubertal timing to examine hypothesized differences for sex (female vs. male) and group (ASD vs. typical development [TD]). Participants included 239 children (137 ASD, 102 TD) between 10 and 13 years. The ASD group included 35 females and 102 males; the TDs included 44 females and 58 males. Pubertal onset measured by genital or pubic stage was investigated with linear regression using main effects of sex and age-by-sex interactions in TD and ASD groups and main effects of diagnosis and diagnosis-by-age interactions in males and females, controlling for body mass index, socioeconomic status, and race. In TD, examination of main effects for genital (penis/breast) stage showed no difference for male and female children (t = 1.33, P = 0.187, rdf = 92); however, there were significant differences in ASD (t = 2.70, P = 0.008, rdf = 121). For diagnosis modeled separately by sex, there was significantly earlier pubertal development in females with ASD (t = 1.97, P = 0.053, rdf = 70, but not males (t = 1.329, P = 0.186, rdf = 143). In addition, analysis of menses revealed females with ASD had significantly earlier onset than TD (t = -2.56, P = 0.018, rdf = 21). Examination of pubic stage revealed expected sex differences for TD (t = 2,674, P = 0.009, rdf = 91) and ASD (t = 3.482, P = 0.001, rdf = 121). Females with ASD evidence advanced pubertal onset relative to ASD males and TD females. Findings underscore the need for enhanced understanding of pubertal development in ASD, as differences may have significant psychological, social, physiological, and developmental consequences. LAY SUMMARY: Children with autism spectrum disorder (ASD) have difficulty with social communication and respond poorly to change, which may include the onset and course of puberty. The study measured the timing of puberty in 239 children (137 ASD and 102 typical development [TD]) between 10 and 13 years based on pubertal stage of genital (breast/penis) and pubic hair development. Females with ASD evidence advanced pubertal onset relative to ASD males and TD females. Findings underscore the need for an enhanced understanding of pubertal development in ASD.
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5. Dean M, Williams J, Orlich F, Kasari C. {{Adolescents with autism spectrum disorder and social skills groups at school: A randomized trial comparing intervention environment and peer composition}}. {School psychology review}. 2020; 49(1): 60-73.
This study used a randomized controlled trial to compare two distinct models of group social skills interventions with adolescents with autism spectrum disorder (ASD). Participants had a confirmed diagnosis of ASD, an IQ greater than or equal to 70, and were educated in the general education setting. Data from 62 adolescent participants who were randomized to one of two treatment conditions (SKILLS vs. ENGAGE) were analyzed. SKILLS participants had a diagnosis of ASD, or social difficulties. ENGAGE groups included adolescents with ASD and typically developing (TD) peer mentors. SKILLS and ENGAGE participants both improved joint engagement and reduced solitary engagement, however, SKILLS participants reported higher social stress and lower quality interpersonal relationships at exit, and increased emotional symptoms and problem behaviors at follow-up compared to the ENGAGE group. The findings suggest that within inclusive secondary school settings, it may be beneficial to include TD peers in social intervention groups.
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6. Di Renzo M, Guerriero V, Zavattini GC, Petrillo M, Racinaro L, Bianchi di Castelbianco F. {{Corrigendum: Parental Attunement, Insightfulness, and Acceptance of Child Diagnosis in Parents of Children With Autism: Clinical Implications}}. {Front Psychol}. 2020; 11: 593327.
[This corrects the article DOI: 10.3389/fpsyg.2020.01849.].
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7. Hull L, Petrides KV, Mandy W. {{Cognitive Predictors of Self-Reported Camouflaging in Autistic Adolescents}}. {Autism Res}. 2020.
Camouflaging involves masking and/or compensating for autistic characteristics and has been identified in autistic individuals through a variety of different methods. Individual variation in the extent, processes and outcomes of camouflaging has been reported in autistic adults, and there has been some investigation of camouflaging by autistic adolescents. This study was conducted to better understand how some of these individual differences emerge, by examining potential mechanisms (theory of mind, executive function, intelligence quotient and age) involved in camouflaging by 58 autistic adolescents aged 13-18 years (29 females, 29 males). Fewer executive function difficulties predicted greater use of total camouflaging strategies and the compensation subscale, but not the masking or assimilation subscales; no other predictors reached statistical significance. These findings suggest that individual differences in executive function ability may underlie variation in the use of camouflaging by adolescents. The total variance explained in the model was small, suggesting the need to examine other factors which may underpin camouflaging. The implications of this finding for the relationship between camouflaging and well-being are discussed, along with the distinction between attempts to camouflage and the efficacy of those attempts. LAY SUMMARY: Camouflaging involves hiding your autism or finding ways around difficulties in order to fit in during social situations. This study found that autistic teenagers with good executive function abilities camouflage their autism more than those who struggle with executive function (which includes planning, goal-direction and memory). This may have implications for teenagers’ mental health and their social functioning.
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8. Jaffe-Dax S, Eigsti IM. {{Perceptual inference is impaired in individuals with ASD and intact in individuals who have lost the autism diagnosis}}. {Sci Rep}. 2020; 10(1): 17085.
Beyond the symptoms which characterize their diagnoses, individuals with autism spectrum disorder (ASD) show enhanced performance in simple perceptual discrimination tasks. Often attributed to superior sensory sensitivities, enhanced performance may also reflect a weaker bias towards previously perceived stimuli. This study probes perceptual inference in a group of individuals who have lost the autism diagnosis (LAD); that is, they were diagnosed with ASD in early childhood but have no current ASD symptoms. Groups of LAD, current ASD, and typically developing (TD) participants completed an auditory discrimination task. Individuals with TD showed a bias towards previously perceived stimuli-a perceptual process called « contraction bias »; that is, their representation of a given tone was contracted towards the preceding trial stimulus in a manner that is Bayesian optimal. Similarly, individuals in the LAD group showed a contraction bias. In contrast, individuals with current ASD showed a weaker contraction bias, suggesting reduced perceptual inferencing. These findings suggest that changes that characterize LAD extend beyond the social and communicative symptoms of ASD, impacting perceptual domains. Measuring perceptual processing earlier in development in ASD will tap the causality between changes in perceptual and symptomatological domains. Further, the characterization of perceptual inference could reveal meaningful individual differences in complex high-level behaviors.
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9. Kung KTF, Thankamony A, Ong KKL, Acerini CL, Dunger DB, Hughes IA, Hines M. {{No relationship between prenatal or early postnatal androgen exposure and autistic traits: evidence using anogenital distance and penile length measurements at birth and 3 months of age}}. {J Child Psychol Psychiatry}. 2020.
BACKGROUND: Autism is more prevalent in males than in females. Hypotheses related to the extreme male brain theory of autism suggest that heightened androgen exposure during early development contributes to autistic traits. Whilst prior research focused mostly on the prenatal period, the current study tests the influences of androgen exposure during both the prenatal and the early postnatal periods on autistic traits during childhood. METHODS: Anthropometric measures that are putative biomarkers of early androgen exposure were employed. Anogenital distance (AGD) was measured at birth and 3 months of age in boys and girls. Penile length at birth and 3 months of age was also measured in boys. When the children were 9-13 years old, a parent-reported questionnaire (the 10-item children’s version of the Autism Spectrum Quotient; AQ-10 Child) was used to assess autistic traits in 97 boys and 110 girls. RESULTS: There were no significant associations between any of the AGD or penile length measures and scores on the AQ-10 Child in boys, girls or the entire sample. CONCLUSIONS: The current study provides the first test of whether early measurements of AGD and/or penile length predict subsequent autistic traits. The current findings do not support a relationship between prenatal or early postnatal androgen exposure and autistic traits. The current study augments prior research showing no consistent relationship between early androgen exposure and autistic traits.
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10. Levante A, Petrocchi S, Lecciso F. {{The Criterion Validity of the First Year Inventory and the Quantitative-CHecklist for Autism in Toddlers: A Longitudinal Study}}. {Brain Sci}. 2020; 10(10).
Pediatric surveillance through screening procedures is needed to detect warning signs of risk for Autism Spectrum Disorder under 24 months of age and to promote early diagnosis and treatment. The main purpose of this study is to extend the literature regarding the psychometric properties of two screening tools, the First Year Inventory (FYI) and the Quantitative-CHecklist for Autism in Toddler (Q-CHAT), testing their criterion validity. They were administered during a three-wave approach involving the general population. At T1, 657 children were tested with the FYI and 36 of them were found to be at risk. At T2, 545 were tested with the Q-CHAT and 29 of them were found to be at risk. At T3, 12 out of the 36 children with a high score on the FYI and 11 out of the 29 children with a high score on the Q-CHAT were compared to 15 typically developing children. The criterion validity was tested considering the severity of the autistic symptoms, emotional/behavioral problems, and limited global functioning as criteria. Accuracy parameters were also calculated. Furthermore, we investigated which dimension of each questionnaire better predicted the aforementioned criterion. The results corroborated the hypotheses and confirmed the criterion validity of FYI and Q-CHAT.
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11. Marsack-Topolewski CN. {{Receipt of Social Support among Compound and Noncompound Caregivers of Adults with Autism}}. {Journal of gerontological social work}. 2020: 1-15.
For parents of adult children with autism spectrum disorder (ASD), caregiving can be ongoing, beginning at diagnosis and continuing throughout adulthood. As parental caregivers age, many may be faced with additional caregiving responsibilities, such as caring for another loved one. This study examined differences in formal and informal social support used by caregivers providing care to more than one person with at least one being an adult child with ASD (compound caregivers) and those caring for a single adult child with ASD (noncompound caregivers). A nationwide sample of 320 parents (age 50 or older) of adult children with ASD completed a web-based survey to understand use of formal and informal social support. Fisher’s exact probability tests were used to determine significant differences in the extent to which the services were used by the two groups of caregivers. Results indicated that 4 of the 12 formal and 2 of the 6 informal social support services differed significantly between compound and noncompound caregivers. Given that both groups of caregivers were aging, future research should focus on understanding what services are anticipated to be needed as these changes occur and as changes to future care plans are needed, to best support their care-recipients.
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12. Mason LA, Zimiga BM, Anders-Jefferson R, Paap KR. {{Autism Traits Predict Self-reported Executive Functioning Deficits in Everyday Life and an Aversion to Exercise}}. {J Autism Dev Disord}. 2020.
Are Autism Quotient (AQ) scores related to executive functioning (EF)? We sampled 200 students of normal intelligence and examined the relationship between AQ scores and: (a) 5 self-ratings of EF, (b) 5 performance-based measures of EF, and (c) 5 types of activities or experiences that are assumed to recruit EF and sometimes enhance EF. Our findings reveal that as AQ scores increase, self-rated EF ability decreases. AQ scores and self-reported EF measures do not correlate with objective EF task performance. Furthermore, AQ scores were shown to be negatively associated with many specific types of physical activity. As AQ scores increase, individuals report fewer positive reasons for exercise and more rationalizations for not engaging in more exercise.
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13. Miyasaka M, Nomura M. {{The effect of ADHD and ASD symptoms on the mental health of college students: a longitudinal study conducted in Japan}}. {Journal of American college health : J of ACH}. 2020: 1-5.
Developmental disorders, such as attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), are some of the biggest contributors to mental health problems. However, it is not well known whether and how experiencing ADHD- or ASD-related symptoms can cause mental illness later in life. Participants: The sample initially included 124 college students, and 54 completed the study (M (age) = 21.9 ± 2.8). Methods: In this study, a longitudinal survey was conducted to investigate the relationship between current ADHD- and ASD-related symptoms and later mental distress in college students. Participants answered the same questionnaire on two occasions, at an interval of approximately 8.5 months. Results: The results suggested that experiencing hyperactivity-impulsivity at this point in life causes later psychiatric illness. Conclusion: These findings highlight the importance of early assessments and providing support for college students with ADHD-related symptoms, especially hyperactivity-impulsivity.
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14. Morinaga M, Rai D, Hollander AC, Petros N, Dalman C, Magnusson C. {{Migration or ethnic minority status and risk of autism spectrum disorders and intellectual disability: systematic review}}. {European journal of public health}. 2020.
BACKGROUND: There is an emerging evidence that the migration and the ethnic minority status are associated with the risks of autism spectrum disorder (ASD) and intellectual disability (ID). This systematic review aimed to investigate whether associations are specific to ASD or ID; whether and which migration-related or ethnically determined factors are associated with the risk of ASD and ID; and what mechanisms may explain these risks. METHODS: A systematic literature search was conducted using Embase, Medline and PsycINFO for studies reporting on the risks of ASD and/or ID among migrants, descendants of migrants and/or ethnic minorities. Risks of any ASD, ASD + ID, ASD – ID and any ID were reviewed in relation to migration and ethnic minority status, with consideration to the study quality. In addition, possible underlying mechanisms suggested in the included studies were summarized. RESULTS: Thirty-five studies were included. The summarized evidence indicated an increased risk of ASD + ID and a decreased risk of ASD – ID in migrants, descendants of migrants and ethnic minorities. These associations appeared more pronounced among children of migrant mothers, with origin in low-income countries, and among descendants of migrants. Data on ID were scarce. Suggested mechanisms explaining the increased risks of ASD + ID included environmental factors acting in utero and genetic factors (including consanguinity), while ascertainment bias was proposed to account for the lowered risks of diagnosed ASD – ID. CONCLUSION: Migration-related factors acting in utero and/or associated with origin in low-income countries may be important in the ASD + ID aetiology, although further confirmative studies are needed.
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15. O’Keefe JA, Bang D, Robertson EE, Biskis A, Ouyang B, Liu Y, Pal G, Berry-Kravis E, Hall DA. {{Prodromal Markers of Upper Limb Deficits in FMR1 Premutation Carriers and Quantitative Outcome Measures for Future Clinical Trials in Fragile X-associated Tremor/Ataxia Syndrome}}. {Movement disorders clinical practice}. 2020; 7(7): 810-9.
BACKGROUND: Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) is a rare, late-onset neurodegenerative disorder characterized by tremor and cerebellar gait ataxia, affecting premutation carriers (PMC) of CGG expansions (range, 55-200) in the fragile X mental retardation 1 (FMR1) gene. Discovery of early predictors for FXTAS and quantitative characterization of motor deficits are critical for identifying disease onset, monitoring disease progression, and determining efficacy of interventions. METHODS: A total of 39 PMC with FXTAS, 20 PMC without FXTAS, and 27 healthy controls performed a series of upper extremity (UE) motor tasks assessing tremor, bradykinesia, and rapid alternating movements that were quantified using an inertial-based sensor system (Kinesia One; Great Lakes NeuroTechnologies, Cleveland, OH, USA). Sub-scores from the clinician-rated FXTAS Rating Scale were correlated with the severity scores generated by the sensor system to determine its validity in FXTAS. RESULTS: PMC with FXTAS had significantly worse postural and kinetic tremor compared with PMC without FXTAS (P = 0.02, 0.03) and controls (P = 0.001, 0.0001), respectively, and slower finger tap (P = 0.001), hand movement (P = 0.0001), and rapid alternating movement speed (P = 0.003) and amplitude (P = 0.04) than controls. PMC without FXTAS had significantly worse right finger tap (P = 0.004), hand movement (P = 0.01), and rapid alternating movement speed (P = 0.003) and amplitude (P = 0.02) than controls. FXTAS Rating Scale subscores significantly correlated with all tremorography scores except for finger taps and left rapid alternating movement. CONCLUSIONS: These findings support the use of inertial sensor quantification systems as promising measures for preclinical FXTAS symptom detection in PMC, characterization of the natural history of FXTAS, assessment of medication responses, and outcome assessment in clinical trials.
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16. Petrolini V, Jorba M, Vicente A. {{The Role of Inner Speech in Executive Functioning Tasks: Schizophrenia With Auditory Verbal Hallucinations and Autistic Spectrum Conditions as Case Studies}}. {Front Psychol}. 2020; 11: 572035.
Several theories propose that one of the core functions of inner speech (IS) is to support subjects in the completion of cognitively effortful tasks, especially those involving executive functions (EF). In this paper we focus on two populations who notoriously encounter difficulties in performing EF tasks, namely, people diagnosed with schizophrenia who experience auditory verbal hallucinations (Sz-AVH) and people with autism spectrum conditions (ASC). We focus on these two populations because they represent two different ways in which IS can fail to help in EF tasks, which can be illustrative for other mental conditions. First, we review the main components of EF (see section « Executive Functions »). Then we explain the functions that IS is taken to perform in the domain of EF (see section « Inner Speech and Executive Functions ») and review the evidence concerning problems about EF in the two populations of our study: Sz-AVH (see section « Executive Functions and Inner Speech in Sz-AVH ») and ASC (see section « Executive Function and Inner Speech in ASC »). After this we further detail our account about what a properly functioning IS can do for both populations and how different IS profiles may impact EF performance: in the case of Sz-AVH, the uncontrolled and intrusive character of IS negatively affects EF performance, whereas in ASC, EF is not sufficiently supported by IS, given the tendency in this population to present a diminished use of IS (see section « IS in ASC and Sz-AVH: How It Relates to EF »). We finally briefly discuss Attention Deficit/Hyperactivity Disorder (ADHD) and Developmental Language Disorders (DLD) (see section « Further Considerations »).
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17. Posar A, Visconti P. {{Autism Spectrum Disorder and Mammalian Target of Rapamycin System}}. {Journal of pediatric neurosciences}. 2020; 15(2): 164-5.
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18. Qiu C, Lin JC, Shi JM, Chow T, Desai VN, Nguyen VT, Riewerts RJ, Feldman RK, Segal S, Xiang AH. {{Association Between Epidural Analgesia During Labor and Risk of Autism Spectrum Disorders in Offspring}}. {JAMA Pediatr}. 2020.
IMPORTANCE: Although the safety of labor epidural analgesia (LEA) for neonates has been well documented, the long-term health effects of LEA on offspring remain to be investigated. OBJECTIVE: To assess the association between maternal LEA exposure and risk of autism spectrum disorders (ASDs) in offspring. DESIGN, SETTING, AND PARTICIPANTS: Data for this retrospective longitudinal birth cohort study were derived from electronic medical records from a population-based clinical birth cohort. A total of 147 895 singleton children delivered vaginally between January 1, 2008, and December 31, 2015, in a single integrated health care system were included. Children were followed up from the age of 1 year until the first date of the following occurrences: clinical diagnosis of ASD, last date of health plan enrollment, death, or the study end date of December 31, 2018. EXPOSURES: Use and duration of LEA. MAIN OUTCOMES AND MEASURES: The main outcome was clinical diagnosis of ASD. Cox proportional hazards regression analysis was used to estimate the hazard ratio (HR) of ASD associated with LEA exposure. RESULTS: Among the cohort of 147 895 singleton children (74 425 boys [50.3%]; mean [SD] gestational age at delivery, 38.9 [1.5] weeks), 109 719 (74.2%) were exposed to maternal LEA. Fever during labor was observed in 13 055 mothers (11.9%) in the LEA group and 510 of 38 176 mothers (1.3%) in the non-LEA group. Autism spectrum disorders were diagnosed in 2039 children (1.9%) in the LEA group and 485 children (1.3%) in the non-LEA group. After adjusting for potential confounders, including birth year, medical center, maternal age at delivery, parity, race/ethnicity, educational level, household income, history of comorbidity, diabetes during pregnancy, smoking during pregnancy, preeclampsia or eclampsia, prepregnancy body mass index, gestational weight gain, gestational age at delivery, and birth weight, the HR associated with LEA vs non-LEA exposure was 1.37 (95% CI, 1.23-1.53). Relative to the unexposed group, the adjusted HR associated with LEA exposure of less than 4 hours was 1.33 (95% CI, 1.17-1.53), with LEA exposure of 4 to 8 hours was 1.35 (95% CI, 1.20-1.53), and with LEA exposure of more than 8 hours was 1.46 (95% CI, 1.27-1.69). Within the LEA group, there was a significant trend of ASD risk associated with increasing duration of LEA exposure after adjusting for covariates (HR for linear trend, 1.05 [95% CI, 1.01-1.09] per 4 hours). Adding fever to the model did not change the HR estimate associated with LEA exposure (adjusted HR for LEA vs non-LEA, 1.37 [95% CI, 1.22-1.53]). CONCLUSIONS AND RELEVANCE: This study suggests that maternal LEA may be associated with increased ASD risk in children. The risk appears to not be directly associated with epidural-related maternal fever.
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19. Rosello B, Berenguer C, Baixauli I, García R, Miranda A. {{Theory of Mind Profiles in Children With Autism Spectrum Disorder: Adaptive/Social Skills and Pragmatic Competence}}. {Front Psychol}. 2020; 11: 567401.
Theory of Mind (ToM) is one of the most relevant concepts in the field of social cognition, particularly in the case of Autism Spectrum Disorders (ASD). Literature showing that individuals with ASD display deficits in ToM is extensive and robust. However, some related issues deserve more research: the heterogeneous profile of ToM abilities in children with ASD and the association between different levels of ToM development and social, pragmatic, and adaptive behaviors in everyday life. The first objective of this study was to identify profiles of children with ASD without intellectual disability (ID), based on explicit and applied ToM knowledge, and compare these profiles with a group of children with typical development (TD). A second objective was to determine differences in symptom severity, adaptive/social behavior, and pragmatic abilities between the profiles identified. Fifty-two children with a clinical diagnosis of ASD without ID and 37 children with TD performed neuropsychological ToM tasks and two vocabulary and memory tests. In addition, all of their mothers completed different questionnaires about applied ToM abilities, severity of ASD symptoms, adaptive/social skills, and pragmatic competence. Two subgroups were identified in the cluster analysis carried out with explicit and applied ToM indicators. The « Lower ToM abilities » profile obtained significantly lower scores than the « Higher ToM abilities » profile on all the ToM measures. Furthermore, the analysis of covariance, controlling for vocabulary and working memory (ANCOVAs), showed statistically significant differences in applied ToM abilities between the two groups of children with ASD without ID and the group with TD. However, only the group with « Higher ToM abilities » achieved similar performance to the TD group on the verbal task of explicit ToM knowledge. Finally, the « Lower ToM abilities » cluster obtained significantly higher scores on autism symptoms (social and communication domains) and lower scores on adaptive behavior and pragmatic skills than the cluster with « Higher ToM abilities. » Taken together, these findings have implications for understanding the heterogeneity in ToM skills in children with ASD without ID, and their differential impact on social, communicative, and adaptive behaviors.
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20. Sappok T, Heinrich M, Böhm J. {{The impact of emotional development in people with autism spectrum disorder and intellectual developmental disability}}. {J Intellect Disabil Res}. 2020.
BACKGROUND: Intellectual developmental disabilities (IDDs) and autism spectrum disorders (ASDs) are developmental conditions, which may also be associated with impairments in emotional development (ED). ED can be assessed using the Scale of Emotional Development – Short (SED-S), a five-stage model consisting of eight domains, which allows to study the relationship between ASD and ED in people with IDD. METHODS: In this retrospective study, the level of ED was compared in 327 adults with IDD with [n = 83; mean age 38.3 years; level of IDD: mild (6), moderate (21), severe (45) and profound (11)] and without [n = 244, mean age 36.9 years; level of IDD: mild (67), moderate (73), severe (68) and profound (36)] ASD. The discriminative ability of the SED-S was determined by a regression in a training and a validation sample. RESULTS: The level of ED correlated with the severity of IDD (r(s) = -.654) and the presence of ASD (r(s) = -.316). People with additional ASD showed lower levels of ED compared with those with IDD only (mean reference ages 7-18 vs 19-36 months). The developmental profiles were equally balanced in ASD and IDD-only. A regression analysis revealed three domains (‘Relating-to-Peers’, ‘Differentiating-Emotions’, and ‘Regulating-Affect’) to be useful for ASD assignment (AUC > 0.70, sensitivity 0.76-0.80, specificity 0.62-0.63). CONCLUSIONS: In people with IDD, additional ASD was associated with delays in ED, which may be considered in diagnostics, treatment and care.
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21. Scheerer NE, Jones JA, Iarocci G. {{Exploring the Relationship between Prosodic Control and Social Competence in Children with and without Autism Spectrum Disorder}}. {Autism Res}. 2020.
Autism spectrum disorder (ASD) is a developmental disorder characterized by persistent deficits in social communication and interaction. Speech is an important form of social communication. Prosody (e.g. vocal pitch, rhythm, etc.), one aspect of the speech signal, is crucial for ensuring information about the emotionality, excitability, and intent of the speaker, is accurately expressed. The objective of this study was to gain a better understanding of how auditory information is used to regulate speech prosody in autistic and non-autistic children, while exploring the relationship between the prosodic control of speech and social competence. Eighty autistic (M = 8.48 years, SD = 2.55) and non-autistic (M = 7.36 years, SD = 2.51) participants produced vocalizations while exposed to unaltered and frequency altered auditory feedback. The parent-report Multidimensional Social Competence Scale was used to assess social competence, while the Autism-Spectrum Quotient and the Autism Spectrum Rating Scales were used to assess autism characteristics. Results indicate that vocal response magnitudes and vocal variability were similar across autistic and non-autistic children. However, autistic children produced significantly faster responses to the auditory feedback manipulation. Hierarchical multiple regressions indicated that these faster responses were significantly associated with poorer parent-rated social competence and higher autism characteristics. These findings suggest that prosodic speech production differences are present in at least a subgroup of autistic children. These results represent a key step in understanding how atypicalities in the mechanisms supporting speech production may manifest in social-communication deficits, as well as broader social competence, and vice versa. LAY SUMMARY: In this study, autistic and non-autistic children produced vowel sounds while listening to themselves through headphones. When the children heard their vocal pitch shifted upward or downward, they compensated by shifting their vocal pitch in the opposite direction. Interestingly, autistic children were faster to correct for the perceived vowel sound changes than their typically developing peers. Faster responses in the children with ASD were linked to poorer ratings of their social abilities by their parent. These results suggest that autistic and non-autistic children show differences in how quickly they control their speech, and these differences may be related to the social challenges experienced by autistic children.
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22. Smutkeeree A, Khrautieo T, Thamseupsilp S, Srimaneekarn N, Rirattanapong P, Wanpen W. {{The Effectiveness of Visual Pedagogy for Toothbrushing in Children with Autism Spectrum Disorder}}. {Journal of International Society of Preventive & Community Dentistry}. 2020; 10(4): 415-23.
OBJECTIVES: The aim of this study was to evaluate toothbrushing effectiveness in children with mild and moderate levels of severity of autism spectrum disorder (ASD) after using visual pedagogy. MATERIALS AND METHODS: This quasi-experimental study was carried out with 30 children with ASD aged 5-17 years; 21 had mild ASD and 9 had moderate ASD. Informed consent and the subject’s demographic information were obtained from caregivers. All subjects were then asked to show their toothbrushing practices, which were recorded by video. The toothbrushing ability, toothbrushing cooperation, and plaque index were evaluated before the study and at 2 weeks, 4 weeks, 3 months, and 6 months after visual pedagogy had been used. Results were analyzed by the Friedman test, Pearson’s chi-square test, Fisher’s exact test, and Mann‒Whitney U test. RESULTS: Toothbrushing ability was significantly improved at all periods of follow-up. Toothbrushing cooperation and the dental plaque index were significantly better than before the study at 4 weeks, 3 months, and 6 months of follow-up. The toothbrushing ability of subjects with mild ASD was significantly better than that of subjects with moderate ASD at 4 weeks and 6 months of follow-up. The toothbrushing cooperation of the mild group was significantly better than that of the moderate group at 2 weeks, 4 weeks, and 3 months. There was no statistically significant reduction in the plaque index between the two groups. CONCLUSION: Visual pedagogy is useful for improving toothbrushing effectiveness in children with mild or moderate severity ASD. However, children with moderate severity ASD take longer to improve.
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23. Stephens K, Silk TJ, Anderson V, Hazell P, Enticott PG, Sciberras E. {{Associations Between Limbic System White Matter Structure and Socio-Emotional Functioning in Children with ADHD + ASD}}. {J Autism Dev Disord}. 2020.
Children with attention deficit/hyperactivity disorder (ADHD) combined with autism spectrum disorder (ASD) symptoms (ADHD + ASD) have poorer social and emotional functioning than those with ADHD alone. However, no studies have specifically examined the associations between ASD symptoms, measures of social and emotional functioning and limbic system white matter microstructure. Tractography on the cingulum, uncinate fasciculus and fornix were performed for 151 children with (N = 78) and without (N = 73) ADHD. Participants in the ADHD group who scored 11 or above on the Social Communication Questionnaire were classified as the ADHD + ASD group (N = 16). Significant differences in mean cingulum FA were present between the control group and the ADHD (all) group, however, no significant differences were seen between the ADHD and ADHD + ASD groups. Despite this, significant associations were seen between mean FA of the left cingulum and emotional problems for the ADHD + ASD group. Results give greater insights into the specific biological basis of emotional problems in the ADHD + ASD group, indicating that the cingulum may play a role.
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24. Tran XA, McDonald N, Dickinson A, Scheffler A, Frohlich J, Marin A, Kure Liu C, Nosco E, Senturk D, Dapretto M, Spurling Jeste S. {{Functional connectivity during language processing in 3-month-old infants at familial risk for autism spectrum disorder}}. {Eur J Neurosci}. 2020.
Auditory statistical learning (ASL) plays a role in language development and may lay a foundation for later social communication impairment. As part of a longitudinal study of infant siblings, we asked whether electroencephalography (EEG) measures of connectivity during ASL at 3 months of age differentiated infants who showed signs of autism spectrum disorder (ASD) at age 18 months. We measured spectral power and phase coherence in the theta (4-6 Hz) and alpha (6-12 Hz) frequency bands within putative language networks. Infants were divided into ASD-concern (n = 14) and No-ASD-concern (n = 49) outcome groups based on their ASD symptoms at 18 months, measured using the Autism Diagnostic Observation Scale Toddler Module. Using permutation testing, we identified a trend towards reduced left fronto-central phase coherence at the electrode pair F9-C3 in both theta and alpha frequency bands in infants who later showed ASD symptoms at 18 months. Across outcome groups, alpha coherence at 3 months correlated with greater word production at 18 months on the MacArthur-Bates Communicative Development Inventory. This study introduces signal processing and analytic tools that account for the challenges inherent in infant EEG studies, such as short duration of recordings, considerable movement artifact and variable volume conduction. Our results indicate that connectivity, as measured by phase coherence during 2.5 minutes of ASL, can be quantified as early as 3 months and suggest that early alternations in connectivity may serve as markers of resilience for neurodevelopmental impairments.
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25. Valiyamattam GJ, Katti H, Chaganti VK, O’Haire ME, Sachdeva V. {{Corrigendum: Do Animals Engage Greater Social Attention in Autism? An Eye Tracking Analysis}}. {Front Psychol}. 2020; 11: 584787.
[This corrects the article DOI: 10.3389/fpsyg.2020.00727.].
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26. Zhao WL, Gu NH, Li ZZ, Wang GS, Cheng CY, Sun F. {{Autism-like behaviors and abnormality of glucose metabolism in offspring derived from aging males with epigenetically modified sperm}}. {Aging}. 2020; 12(19): 19766-84.
Accumulating evidence from epidemiological studies of humans and genetic models in rodents has shown that offspring from males of advanced paternal age (APA) are susceptible to metabolic and neurological disorders. However, knowledge of molecular mechanism(s) underlying these metabolic and behavioral changes at the intergeneration and trans-generation levels from APA is limited. Here, we characterized changes on glucose and cholesterol metabolism, and also autism spectrum disorders (ASD)-like behaviors in 1(st) and 2(nd) generations from 12- and 18-month-old male mice, respectively. Whole Genome Bisulfite Sequencing (WGBS) of sperm from APA mice identified differentially methylated regions (DMRs) within the whole genome, and DMRs within promoter regions, suggesting that specific genes and relevant pathways might be associated with autism and aberrant glucose metabolism in the offspring from APA males. These results strongly suggest that epigenetic reprogramming induced by aging in male sperm may lead to high risks of aberrant glucose metabolism and the development of ASD behaviors in intergenerational and transgenerational offspring.
