1. Erratum: KCNQ2 Encephalopathy Manifesting With Rett-like Features: A Follow-up Into Adulthood. Neurology Genetics. 2021; 7(4): e604.

[This corrects the article on p. e510 in vol. 6, PMID: 33134511.].

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2. Bailey B, Arciuli J. Literacy instruction for autistic children who speak languages other than English. Autism : the international journal of research and practice. 2022; 26(2): 389-405.

Many autistic children across the globe speak languages other than English. However, much of the research about teaching children with autism to read and write is derived from studies including people who speak English and no other languages. Here, we review the research on teaching children with autism to read and write in languages other than English. We did this because the world’s languages, and the ways they are represented in written form, vary greatly. A broader overview that encompasses languages other than English can help us better understand how learning to read and write can be supported for autistic children around the world. The studies included in our review highlight some potential differences in effective literacy teaching for autistic children learning to read and write using different writing systems. The studies we reviewed tended to include relatively small samples of autistic children, among other limitations. We hope that our review will increase awareness and research efforts in the area of autism and global literacy.

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3. Bumble JL, Sanderson KA, Zemke KE, Hodapp RM. Marrying into it: Siblings-in-law in the social support networks of adults with intellectual and developmental disabilities. Journal of intellectual disability research : JIDR. 2021; 65(9): 849-62.

BACKGROUND: Although attention has been devoted to social supports provided by parents and siblings of adults with intellectual and developmental disabilities (IDD), much less is known about supports provided by the spouses of these siblings-the so-called siblings-in-law. This study examined the role of the sibling-in-law in the social support networks of their brother/sister-in-law with IDD and factors associated with providing greater amounts of tangible, informational and emotional support. METHOD: Siblings-in-law of adults with IDD living predominately in the United States (N = 99) participated in a cross-sectional survey. Measures covered demographic and family background, perspectives towards having a brother/sister-in-law with IDD, supports provided and characteristics of the adult with IDD’s social support network. RESULTS: Most siblings-in-law reported providing support to their brother/sister-in-law with IDD. Percentages of siblings-in-law providing support were similar to that of the spouse and the spouse’s family in the area of emotional support and similar to percentages of paid professionals in tangible and informational supports. Across all three support types, the main predictor of increased sibling-in-law support levels was a decreased ability of the parents-in-law to care for their child with IDD. Other predictors (e.g. distance from brother/sister-in-law with IDD and disability ‘insider’ status) varied by support type. CONCLUSIONS: Findings highlight the role of siblings-in-law in the social support networks of adults with IDD, with implications for policy and practice.

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4. Enticott PG, Barlow K, Guastella AJ, Licari MK, Rogasch NC, Middeldorp CM, Clark SR, Vallence AM, Boulton KA, Hickie IB, Whitehouse AJO, Galletly C, Alvares GA, Fujiyama H, Heussler H, Craig JM, Kirkovski M, Mills NT, Rinehart NJ, Donaldson PH, Ford TC, Caeyenberghs K, Albein-Urios N, Bekkali S, Fitzgerald PB. Repetitive transcranial magnetic stimulation (rTMS) in autism spectrum disorder: protocol for a multicentre randomised controlled clinical trial. BMJ open. 2021; 11(7): e046830.

INTRODUCTION: There are no well-established biomedical treatments for the core symptoms of autism spectrum disorder (ASD). A small number of studies suggest that repetitive transcranial magnetic stimulation (rTMS), a non-invasive brain stimulation technique, may improve clinical and cognitive outcomes in ASD. We describe here the protocol for a funded multicentre randomised controlled clinical trial to investigate whether a course of rTMS to the right temporoparietal junction (rTPJ), which has demonstrated abnormal brain activation in ASD, can improve social communication in adolescents and young adults with ASD. METHODS AND ANALYSIS: This study will evaluate the safety and efficacy of a 4-week course of intermittent theta burst stimulation (iTBS, a variant of rTMS) in ASD. Participants meeting criteria for Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition ASD (n=150, aged 14-40 years) will receive 20 sessions of either active iTBS (600 pulses) or sham iTBS (in which a sham coil mimics the sensation of iTBS, but no active stimulation is delivered) to the rTPJ. Participants will undergo a range of clinical, cognitive, epi/genetic, and neurophysiological assessments before and at multiple time points up to 6 months after iTBS. Safety will be assessed via a structured questionnaire and adverse event reporting. The study will be conducted from November 2020 to October 2024. ETHICS AND DISSEMINATION: The study was approved by the Human Research Ethics Committee of Monash Health (Melbourne, Australia) under Australia’s National Mutual Acceptance scheme. The trial will be conducted according to Good Clinical Practice, and findings will be written up for scholarly publication. TRIAL REGISTRATION NUMBER: Australian New Zealand Clinical Trials Registry (ACTRN12620000890932).

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5. Fujihira H, Itoi C, Furukawa S, Kato N, Kashino M. Auditory brainstem responses in adults with autism spectrum disorder. Clinical neurophysiology practice. 2021; 6: 179-84.

OBJECTIVE: To investigate possible differences in the auditory peripheral and brainstem functions between adults with autism spectrum disorder (ASD) and neurotypical (NT) adults. METHODS: Click-evoked auditory brainstem responses (ABRs) were obtained from 17 high-functioning ASD adults (aged 21-38 years) and 20 NT adults (aged 22-36 years). A relatively large number of stimulus presentations (6000) were adopted, and ABRs by horizontal and vertical electrode montages were evaluated, in order to allow precise evaluations of early ABR components. RESULTS: Waves I, II, III, and V were identified in the vertical electrode montage, and wave I and the summating potential (SP) in electrocochleograms were identified in the horizontal electrode montage. There were no significant group differences in the wave I, II, III, and V latencies or the interpeak latencies (IPLs) in the vertical electrode montage. In the horizontal montage, the ASD adults exhibited significantly shortened SP latencies compared with the NT adults, whereas there was no significant group difference in the wave I latency. CONCLUSION: The ASD adults may have the abnormalities of processing more in the peripheral auditory system than in the brainstem. SIGNIFICANCE: The current study suggests that the peripheral abnormality is associated with ASD.

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6. Law ML, Singh J, Mastroianni M, Santosh P. Parent-Mediated Interventions for Infants under 24 Months at Risk for Autism Spectrum Disorder: A Systematic Review of Randomized Controlled Trials. Journal of autism and developmental disorders. 2021.

Prodromal symptoms of Autism Spectrum Disorder (ASD) have been detected within the first year of life. This review evaluated evidence from randomized controlled trials (RCTs) of parent-mediated interventions for infants under 24 months who are at risk for ASD. Electronic databases, including grey literature, were searched up till November 2019. Seven RCTs were identified. There was substantial heterogeneity in recruitment, outcome measures and effect size calculations. Interventions did not reduce the risk of later ASD diagnosis and post-intervention effects on infant outcomes were inconsistent, with five studies reporting significant improvements across both treatment and control groups. Moderate level of evidence of intervention effects on parental interaction skills and the small number of RCTs, and significant limitations restrict generalizability across studies.

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7. Lim TSH, Tan MY, Aishworiya R, Kang YQ, Koh MY, Shen L, Chong SC. Factors Contributing to Psychological Ill-Effects and Resilience of Caregivers of Children with Developmental Disabilities During a Nation-wide Lockdown During the COVID-19 Pandemic. Journal of autism and developmental disorders. 2021: 1-11.

We evaluated factors affecting psychological ill-effects and resilience of caregivers of children with developmental disabilities during the coronavirus pandemic. Depression, Anxiety, and Stress Scales (DASS-21) and Connor-Davidson Resilience Scale 25-item were administered. Logistic regression was used to identify factors associated with psychological ill-effects and resilience. DASS-21 depression, anxiety and stress scores were high; these were associated with difficulties with infection control measures, autism diagnosis, and need for early intervention services. For caregivers of children with ASD, our DASS-21 scores were significantly higher than non-pandemic scores locally and in other Asian sites. Resilience scores correlated inversely with DASS-21 scores. Targeted support to selected at-risk caregivers and improving resilience can help their coping.

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8. Peyre H, Schoeler T, Liu C, Williams CM, Hoertel N, Havdahl A, Pingault JB. Combining multivariate genomic approaches to elucidate the comorbidity between autism spectrum disorder and attention deficit hyperactivity disorder. Journal of child psychology and psychiatry, and allied disciplines. 2021; 62(11): 1285-96.

BACKGROUND: Attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are two highly heritable neurodevelopmental disorders. Several lines of evidence point towards the presence of shared genetic factors underlying ASD and ADHD. We conducted genomic analyses of common risk variants (i.e. single nucleotide polymorphisms, SNPs) shared by ASD and ADHD, and those specific to each disorder. METHODS: With the summary data from two GWAS, one on ASD (N = 46,350) and another on ADHD (N = 55,374) individuals, we used genomic structural equation modelling and colocalization analysis to identify SNPs shared by ASD and ADHD and SNPs specific to each disorder. Functional genomic analyses were then conducted on shared and specific common genetic variants. Finally, we performed a bidirectional Mendelian randomization analysis to test whether the shared genetic risk between ASD and ADHD was interpretable in terms of reciprocal relationships between ASD and ADHD. RESULTS: We found that 37.5% of the SNPs associated with ASD (at p < 1e-6) colocalized with ADHD SNPs and that 19.6% of the SNPs associated with ADHD colocalized with ASD SNPs. We identified genes mapped to SNPs that are specific to ASD or ADHD and that are shared by ASD and ADHD, including two novel genes INSM1 and PAX1. Our bidirectional Mendelian randomization analyses indicated that the risk of ASD was associated with an increased risk of ADHD and vice versa. CONCLUSIONS: Using multivariate genomic analyses, the present study uncovers shared and specific genetic variants associated with ASD and ADHD. Further functional investigation of genes mapped to those shared variants may help identify pathophysiological pathways and new targets for treatment.

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9. Teh EJ, Vijayakumar R, Tan TXJ, Yap MJ. Effects of Physical Exercise Interventions on Stereotyped Motor Behaviours in Children with ASD: A Meta-Analysis. Journal of autism and developmental disorders. 2021.

Studies have reported that physical exercise reduces maladaptive stereotyped motor behaviours (SMB) in children with ASD, but these intervention studies vary in design and outcome. The present systematic review and meta-analysis included 22 studies, involving 274 children with ASD, to quantify the effect of exercise on SMB and its potential moderators. Multi-level modelling revealed a large overall effect, Hedges’ g = 1.16, with significant heterogeneity across participant, treatment, and study levels. Further, a more appropriate model using between-case estimation for within-subject effects to improve comparability between single-case and group-design studies, yielded a smaller but still significant effect, g = 0.51. Lastly, higher exercise intensity, but not age, exercise duration or settings, reliably predicted treatment effectiveness. Implications for clinical practice and research are discussed.

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10. Uhles CL, Barnes S, Uddin N, Umaña LA. Second instance of co-occurring 22q11.2 deletion syndrome and Williams syndrome. American journal of medical genetics Part A. 2021; 185(12): 3821-4.

We present an 18-month-old male with Tetralogy of Fallot, retrognathia, short stature, global developmental delay, and dysmorphic features who was found to have dual diagnoses of both Williams syndrome and 22q11.2 deletion syndrome (22q11.2DS). To our knowledge, this is the second case of such a co-occurrence documented in the medical literature. Our patient presents with a blended physical phenotype of these two conditions and a behavioral phenotype that is distinct from what is typically observed in either disorder alone. We compare our patient’s phenotype to the previously reported case and to the typical phenotypes for each individual condition. Additionally, we discuss why the occurrence of these two disorders together seems to be so rare, and the benefit of a genetics evaluation to an inpatient service team and the patient.

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11. Wijker C, Kupper N, Leontjevas R, Spek A, Enders-Slegers MJ. The effects of Animal Assisted Therapy on autonomic and endocrine activity in adults with autism spectrum disorder: A randomized controlled trial. General hospital psychiatry. 2021; 72: 36-44.

OBJECTIVE: Stress and its sequelae are very common in adults with autism spectrum disorder (ASD) without an intellectual disability (ID). Animal-assisted therapy (AAT) has shown physiological stress-reductive effects in children with ASD. The aim of the current study was to examine the acute psychophysiological response to an AAT session, and to examine the longer-term stress-physiological effects of the intervention, up until 10 weeks post-treatment, in comparison to waiting-list controls. METHOD: A randomized controlled trial with pre-intervention (T0), post-intervention (T1: 10 weeks) and follow-up (T2: 20 weeks) measurements of neuroendocrine and cardiovascular measures, was conducted in 53 adults with ASD (N = 27 in intervention arm; N = 26 in control arm). Within the intervention group, stress-physiological data were collected during the 5th therapy session (acute effects). Data were analyzed with mixed models for outcome measures cortisol, alpha-amylase, heart rate variability and sympathetic activity. RESULTS: The AAT interventional session was significantly associated with reduced cortisol levels (β = -0.41, p = .010), while parasympathetic and sympathetic cardiovascular activity remained unaltered. No significant changes were found for stress-physiological measures at post-treatment time points. CONCLUSIONS: Acute stress reduction, reflected in significant reduction in cortisol levels, was found during an AAT session in adults with ASD, without ID. More research is needed to explore to what extent the specific factors of AAT have contributed to the decrease in cortisol and whether stress reduction is possible for the longer-term.

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