1. Althiabi Y. Attitude, anxiety and perceived mental health care needs among parents of children with Autism Spectrum Disorder (ASD) in Saudi Arabia during COVID-19 pandemic. Res Dev Disabil. 2021 ; 111 : 103873.

BACKGROUND : COVID-19 pandemic has generated anxiety and mental health issues in the common population. In general, anxiety and poor health are higher in parents of children with Autism Spectrum Disorder (ASD) than parents of children without ASD. However, the symptoms of anxiety, depression and poor mental health are likely to be more escalated in parents of children with ASD during COVID-19, possibly due to the emergency measures involving suspension of essential services, closure of schools, work-from-home policy and lack of professional support, etc. AIM : This empirical research aimed to explore the attitude, anxiety and perceived mental health care of parents of children with ASD in the COVID-19 pandemic. METHOD : A total of 211 participants, including mothers and fathers of children with ASD from the Kingdom of Saudi Arabia, participated in this online study. Along with demographic details, data on attitude, anxiety, mental health status and perceived mental health care were obtained using both self-reported questionnaire and reference standard questionnaire. The collected data were analysed using t-test, Pearson correlation analysis and linear regression analysis. The responses to open-ended questions were also collected and analysed qualitatively. RESULTS : The study revealed that attitudes towards taking care of children with ASD were affected by parents’ age and child’s age, and mothers were more affected. Further, the anxiety of parents during COVID-19 was significantly higher than before the COVID-19 situation. It was found that parents’ mental status during COVID-19 mediated the interaction between anxiety and perceived mental health care. Finally, the open-ended questions indicated that parents sought support from teachers, family members and therapists to deal with children with ASD during the pandemic outbreak. In the context of perceived mental health care, besides psychological and financial support, other measures like training sessions, online classes, etc., were recommended. CONCLUSIONS : The findings of this study insisted on the importance of support from government and local health authorities to introduce interventions for parents and children with ASD to improve the overall mental health.

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2. Berube C. Autism and Hidden Imagination : Raising and Educating Children Who Cannot Express Their Minds. Healthcare (Basel, Switzerland). 2021 ; 9(2).

This is a reflection on an article written in 2007, entitled Autism and the Artistic Imagination : The Link between Visual Thinking and Intelligence. The author is a parent of a 6-year-old with autism who is now 19 and is non-verbal who has trouble expressing his thoughts, feelings and desires, and discusses some theories behind autism spectrum communication disorders and seeks to understand why there is so much difficulty with communication with some on the spectrum. The 2007 article employed Howard Gardner’s Multiple Intelligence Theory as a framework to discuss the visual and spatial learning abilities of kids with autism, and this update posits that the nonspeaking population of the autism community do indeed have different ways of understanding the world, theories of mind and awareness enough to be able to communicate if only the proper links and opportunities are provided. The lack of communication is not due to a lack of a sense of self, but of a lack of understanding of the neuro-typical community that people with autism are speaking a second language, and need help with the translation.

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3. Brugger M, Brunet T, Wagner M, Orec LE, Schwaibold EMC, Boy N. Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder. Gene. 2021 ; 768 : 145260.

Correct diagnosis of children presenting with developmental delay and intellectual disability remains challenging due to the complex and heterogeneous etiology. High throughput sequencing technologies like exome sequencing have become more commonly available and are significantly improving genetic testing. We present two siblings – a 14-year old male and an 8-year old female patient – with a similar clinical phenotype that was characterized by combined developmental delay primarily affecting speech, mild to moderate intellectual disability, behavioral abnormalities, and autism spectrum disorder, but with no congenital anomalies. The sister showed additional muscular hypotonia and more pronounced dysmorphic features compared to her brother. Both parents had psychiatric disorders and mild to moderate intellectual disability. A common genetic etiology in the siblings was suspected. Metabolic, psychological and neuroradiological examinations were complemented by basic genetic testing including chromosome analysis and array comparative genomics hybridization analysis (CGH), followed by exome sequencing and combined data analysis of the family. Exome sequencing identified two different underlying genetic conditions : in the sister, a maternally inherited pathogenic variant c.1661C > T, p.Pro554Leu in SLC6A8 (NM_005629.4) was identified causing cerebral creatine deficiency syndrome 1 (MIM #300352) which was confirmed by MR spectroscopy and treated accordingly. In the brother, a paternally inherited 16p13.11 duplication was identified by exome sequencing and considered to be likely associated with his and possibly his father’s phenotype. The 16p13.11 duplication had been previously identified in an array CGH but had not been prioritized due to the lack of segregation in the siblings. In conclusion, we report a case of intra-familial locus heterogeneity of developmental delay in two siblings. We advocate for the need of unbiased and comprehensive genetic testing to provide accurate diagnosis despite locus heterogeneity.

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4. Burgess DJ. Linking newly occurring mutations to autism. Nature reviews Genetics. 2021.

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5. Camero R, Martínez V, Gallego C. Gaze Following and Pupil Dilation as Early Diagnostic Markers of Autism in Toddlers. Children (Basel, Switzerland). 2021 ; 8(2).

Background : Children with autism spectrum disorder (ASD) show certain characteristics in visual attention. These may generate differences with non-autistic children in the integration of relevant social information to set the basis of communication. Reliable and objective measurement of these characteristics in a language learning context could contribute to a more accurate early diagnosis of ASD. Gaze following and pupil dilation are being studied as possible reliable measures of visual attention for the early detection of ASD. The eye-tracking methodology allows objective measurement of these biomarkers. The aim of this study is to determine whether measurements of gaze following and pupillary dilation in a linguistic interaction task are potential objective biomarkers for the early diagnosis of ASD. Method : A group of 20 children between 17 and 24 months of age, made up of 10 neurotypical children (NT) and 10 children with an increased likelihood of developing ASD were paired together according to chronological age. A human face on a monitor pronounced pseudowords associated with pseudo-objects. Gaze following and pupil dilation were registered during the task These measurements were captured using eye-tracking methodology. Results : Significant statistical differences were found in the time of gaze fixation on the human face and on the object, as well as in the number of gazes. Children with an increased possibility of developing ASD showed a slightly higher pupil dilation than NT children. However, this difference was not statistically significant. Nevertheless, their pupil dilation was uniform throughout the different periods of the task while NT participants showed greater dilation on hearing the pseudoword. Conclusions : The fixing and the duration of gaze, objectively measured by a Tobii eye-tracking system, could be considered as potential biomarkers for early detection of ASD. Additionally, pupil dilation measurement could reflect differential activation patterns during word processing in possible ASD toddlers and NT toddlers.

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6. Cavallo A, Romeo L, Ansuini C, Battaglia F, Nobili L, Pontil M, Panzeri S, Becchio C. Identifying the signature of prospective motor control in children with autism. Sci Rep. 2021 ; 11(1) : 3165.

Failure to develop prospective motor control has been proposed to be a core phenotypic marker of autism spectrum disorders (ASD). However, whether genuine differences in prospective motor control permit discriminating between ASD and non-ASD profiles over and above individual differences in motor output remains unclear. Here, we combined high precision measures of hand movement kinematics and rigorous machine learning analyses to determine the true power of prospective movement data to differentiate children with autism and typically developing children. Our results show that while movement is unique to each individual, variations in the kinematic patterning of sequential grasping movements genuinely differentiate children with autism from typically developing children. These findings provide quantitative evidence for a prospective motor control impairment in autism and indicate the potential to draw inferences about autism on the basis of movement kinematics.

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7. Cerullo S, Fulceri F, Muratori F, Contaldo A. Acting with shared intentions : A systematic review on joint action coordination in Autism Spectrum Disorder. Brain and cognition. 2021 ; 149 : 105693.

BACKGROUND : Joint actions, described as a form of social interaction in which individuals coordinate their actions in space and time to bring about a change in the environment, rely on sensory-motor processes that play a role in the development of social skills. Two brain networks, associated with « mirroring » and « mentalizing », are engaged during these actions : the mirror neuron and the theory of mind systems. People with autism spectrum disorder (ASD) showed impairment in interpersonal coordination during joint actions. Studying joint action coordination in ASD will contribute to clarify the interplay between sensory-motor and social processes throughout development and the interactions between the brain and the behavior. METHOD : This review focused on empirical studies that reported behavioral and kinematic findings related to joint action coordination in people with ASD. RESULTS : Literature on mechanisms involved in the joint action coordination impairment in ASD is still limited. Data are controversial. Different key-components of joint action coordination may be impaired, such as cooperative behavior, temporal coordination, and motor planning. CONCLUSIONS : Interpersonal coordination during joint actions relies on early sensory-motor processes that have a key role in guiding social development. Early intervention targeting the sensory-motor processes involved in the development of joint action coordination could positively support social skills.

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8. Courtenay K. The case for removing intellectual disability and autism from the Mental Health Act. The British journal of psychiatry : the journal of mental science. 2021 ; 218(1) : 64-5.

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9. Critchley E, Cuadros M, Harper I, Smith-Howell H, Rogish M. A parent-sibling dyadic interview to explore how an individual with Autism Spectrum Disorder can impact family dynamics. Res Dev Disabil. 2021 ; 111 : 103884.

BACKGROUND : Autism Spectrum Disorder (ASD) is a life-long condition which affects the individual and their family system. Little research understands the impact of an ASD upon families, how this may change over time and how COVID-19 has impacted these dynamics. AIMS : To explore the impact of an ASD on the lived experiences of parents and neurotypical adult siblings, including during the UK COVID-19 lockdown. METHODS : Eight parent-sibling dyads (16 individuals) completed semi-structured interviews discussing their family before, during and after receiving the ASD diagnosis, and in relation to the first UK lockdown. Interview transcripts were analysed using Interpretative Phenomenological Analysis. RESULTS : Three super-ordinate themes were identified : Dominated by ASD ; Family Cohesion ; and the Need for Support. CONCLUSIONS : The data suggested a closeness within the families and an adoration towards the individual with ASD (IWA). Dyads were, to an extent, consumed by the diagnosis both presently and in the future, implicating the need for a stretch in services to support parents and neurotypical siblings. In terms of the first UK lockdown, the IWA added an extra layer of difficulty to the dyads work-life balance yet there was an essence of family cohesion. Future research should consider longitudinal methods and explore the impact of ASD co-morbidities upon family dynamics.

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10. de Villiers J. The case against removing intellectual disability and autism from the Mental Health Act. The British journal of psychiatry : the journal of mental science. 2021 ; 218(1) : 63.

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11. Elliott LK, Weiss JA, Lloyd M. Beyond the Motor Domain : Exploring the Secondary Effects of a Fundamental Motor Skill Intervention for Children With Autism Spectrum Disorder. Adapted physical activity quarterly : APAQ. 2021 : 1-20.

Early motor skill interventions have been shown to improve the motor skill proficiency of children with autism spectrum disorder ; however, little is known about the secondary effects associated with these types of interventions (e.g., influence on behavior, social skills, family dynamics). The purpose of this qualitative study was to (a) investigate parents’ perceptions of the child-level benefits associated with a fundamental motor skill intervention for their 4-year-olds with autism spectrum disorder and (b) explore how child-level benefits influenced the family unit. Eight parents (N = 8) were interviewed (semistructured) about their experiences with the intervention for their child(ren) ; the study was grounded in phenomenology. Five main child-level benefits emerged, including improvements with (a) motor skills, (b) social skills, (c) listening skills, (d) turn-taking skills, and (e) transition skills. The child-level benefits then extended to family members in a number of ways (e.g., more positive sibling interactions). These findings highlight several important secondary effects that should be investigated in future research.

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12. Fan LY, Booth JR, Liu M, Chou TL, Gau SS. Developmental differences in neural connectivity for semantic processing in youths with autism. J Child Psychol Psychiatry. 2021.

BACKGROUND : Youths with autism spectrum disorder (ASD) rely more on lower-level visual processing as revealed by greater occipital activation, yet less effectively engage higher-level processing of modality-independent semantic knowledge as indicated by reduced frontal activation, compared to typically developing (TD) youths. However, little is known about age-dependent differences in neural connectivity during semantic processing in youths with ASD as compared to TD youths. METHODS : Four groups were recruited : 31 ASD children (mean age = 10.5 years old), 33 TD children (mean age = 10.4), 30 ASD adolescents (mean age = 14.9), and 34 TD adolescents (mean age = 15.1). We explored their differences in neural connectivity by using functional magnetic resonance imaging (fMRI) with psychophysiological interaction (PPI) during semantic judgments. RESULTS : In comparison with TD children, children with ASD showed greater activation in the left cuneus and weaker connectivity between the left cuneus and left middle temporal gyrus (MTG). In comparison with TD adolescents, adolescents with ASD showed less activation in the left inferior frontal gyrus (IFG) and weaker functional connectivity between the left IFG and left MTG. CONCLUSIONS : Children with ASD may rely more on visual processes in the occipital cortex that are disconnected from modality-independent semantics in the temporal cortex. However, adolescents with ASD may less effectively engage frontal mechanisms involved in the top-down control of modality-independent semantic knowledge in the temporal cortex. Our findings provide evidence of developmental differences in the neural substrates of the alterations in semantic processing in youths with ASD compared to TD youths.

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13. Faundes V, Jennings MD, Crilly S, Legraie S, Withers SE, Cuvertino S, Davies SJ, Douglas AGL, Fry AE, Harrison V, Amiel J, Lehalle D, Newman WG, Newkirk P, Ranells J, Splitt M, Cross LA, Saunders CJ, Sullivan BR, Granadillo JL, Gordon CT, Kasher PR, Pavitt GD, Banka S. Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine. Nat Commun. 2021 ; 12(1) : 833.

The structure of proline prevents it from adopting an optimal position for rapid protein synthesis. Poly-proline-tract (PPT) associated ribosomal stalling is resolved by highly conserved eIF5A, the only protein to contain the amino acid hypusine. We show that de novo heterozygous EIF5A variants cause a disorder characterized by variable combinations of developmental delay, microcephaly, micrognathia and dysmorphism. Yeast growth assays, polysome profiling, total/hypusinated eIF5A levels and PPT-reporters studies reveal that the variants impair eIF5A function, reduce eIF5A-ribosome interactions and impair the synthesis of PPT-containing proteins. Supplementation with 1 mM spermidine partially corrects the yeast growth defects, improves the polysome profiles and restores expression of PPT reporters. In zebrafish, knockdown eif5a partly recapitulates the human phenotype that can be rescued with 1 µM spermidine supplementation. In summary, we uncover the role of eIF5A in human development and disease, demonstrate the mechanistic complexity of EIF5A-related disorder and raise possibilities for its treatment.

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14. Guo X, Duan X, Suckling J, Wang J, Kang X, Chen H, Biswal BB, Cao J, He C, Xiao J, Huang X, Wang R, Han S, Fan YS, Guo J, Zhao J, Wu L, Chen H. Mapping Progressive Gray Matter Alterations in Early Childhood Autistic Brain. Cereb Cortex. 2021 ; 31(3) : 1500-10.

Autism spectrum disorder is an early-onset neurodevelopmental condition. This study aimed to investigate the progressive structural alterations in the autistic brain during early childhood. Structural magnetic resonance imaging scans were examined in a cross-sectional sample of 67 autistic children and 63 demographically matched typically developing (TD) children, aged 2-7 years. Voxel-based morphometry and a general linear model were used to ascertain the effects of diagnosis, age, and a diagnosis-by-age interaction on the gray matter volume. Causal structural covariance network analysis was performed to map the interregional influences of brain structural alterations with increasing age. The autism group showed spatially distributed increases in gray matter volume when controlling for age-related effects, compared with TD children. A significant diagnosis-by-age interaction effect was observed in the fusiform face area (FFA, Fpeak = 13.57) and cerebellum/vermis (Fpeak = 12.73). Compared with TD children, the gray matter development of the FFA in autism displayed altered influences on that of the social brain network regions (false discovery rate corrected, P < 0.05). Our findings indicate the atypical neurodevelopment of the FFA in the autistic brain during early childhood and highlight altered developmental effects of this region on the social brain network.

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15. Hendren RL. Editorial : Addressing « The Cliff » for Adults With Autism Spectrum Disorder. J Am Acad Child Adolesc Psychiatry. 2021.

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16. Hotez E, Hotez PJ, Rosenau KA, Kuo AA. Prioritizing COVID-19 vaccinations for individuals with intellectual and developmental disabilities. EClinicalMedicine. 2021 : 100749.

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17. Janickova L, Rechberger KF, Wey L, Schwaller B. Correction to : Absence of parvalbumin increases mitochondria volume and branching of dendrites in inhibitory Pvalb neurons in vivo : a point of convergence of autism spectrum disorder (ASD) risk gene phenotypes. Mol Autism. 2021 ; 12(1) : 7.

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18. Jarmolowicz AI, Baker EK, Bartlett E, Francis D, Ling L, Gamage D, Delatycki MB, Godler DE. Fragile X syndrome full mutation in cognitively normal male identified as part of an Australian reproductive carrier screening program. Am J Med Genet A. 2021.

Fragile X syndrome (FXS) is caused by CGG expansions of ≥200 repeats (full mutation : FM). Typically, FM causes abnormal methylation of the FMR1 promoter and silencing of FMR1, leading to reduction of FMRP, a protein essential for normal neurodevelopment. However, if unmethylated, these alleles cause over-expression of FMR1 mRNA which has been associated with Fragile X Tremor and Ataxia Syndrome (FXTAS), a late onset disorder. This report details the molecular and clinical profile of an asymptomatic male (29 years) identified as a result of cascade testing who was found to have a rare unmethylated FM (UFM) allele, as well as premutation (PM : 55-199 CGG) size alleles in multiple tissues. Full-scale IQ was within the normal range and minimal features of autism were observed. Southern blot analysis identified FM smears in blood (220-380 CGG) and saliva (212-378 CGG). A PM of 159 CGG was identified in blood and saliva. FMR1 promoter methylation analysis showed all alleles to be unmethylated. FMR1 mRNA levels were greater than fivefold of median levels in typically developing controls and males with FXS mosaic for PM and FM alleles. Issues raised during genetic counseling related to risk for FXTAS associated with UFM and elevated FMR1 mRNA levels, as well as, reproductive options, with implications for future practice.

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19. Jenabi E, Bashirian S, Asali Z, Seyedi M. Association between small for gestational age and risk of autism spectrum disorders : a meta-analysis. Clinical and experimental pediatrics. 2021.

The relationship between small for gestational age (SGA) and autism spectrum disorders (ASD) remains unknown. This meta-analysis aimed to investigate the relationship between SGA and the risk of ASD. We searched PubMed, Web of Science, and Scopus databases from inception to November 2020. The heterogeneity across studies was explored using the I2 statistic. The possibility of publication bias was assessed using Begg’s test. The results were reported using the odds ratio (OR) and 95% confidence interval (CI) using a random-effects model. The literature search yielded 824 articles with 8,752,138 participants. We assessed the association between SGA and the risk of ASD in cohort and case-control studies. Based on the random-effects model, compared with SGA, the estimated OR of the risk of ASD was 1.17 (95% CI, 1.09-1.24). Therefore, there was a significant association between SGA and the risk of ASD. Based on OR reports in epidemiological studies, we showed that SGA is a risk factor for and can increase the risk of ASD. The association between SGA and ASD risk has further relevance to the current public health emphasis on appropriate pre-pregnancy weight and pregnancy weight gain.

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20. Kengne Kamga K, Munung NS, Nguefack S, Wonkam A, De Vries J. Negotiating political power and stigma around fragile X Syndrome in a rural village in Cameroon : A tale of a royal family and a community. Molecular genetics & genomic medicine. 2021 : e1615.

BACKGROUND : Fragile X Syndrome (FXS) is a neurogenetic condition that significantly impacts the lives of affected individuals and their families due to its association with intellectual disability (ID) and stigma. METHOD : In this paper, we present the findings of an ethnographic study in the community of a patient who received a genetic diagnosis for FXS in Cameroon. This study builds on data from 28 participants of a royal family and 58 from the community who participated in 20 in-depth interviews and nine focus group discussions. RESULTS : We identified two types of stigma in this community : public stigma directed towards the royal family and associative stigma experienced by royal family members. We outline the stereotyping labels used for the family and its children with Fragile X Syndrome and describe the stigma-power dynamic between the community members and the royal family. First, most villagers use less stigmatizing terms to addressing FXS children from the chieftaincy because of their position in society. Secondly, due to their social position, the royal family uses their status to negotiate marriages with community members. From these observations, we can suggest that the primary role of stigma in this community is to keep people away from FXS and keep them down through domination and exploitation. CONCLUSION : We advocate that other researchers examine if the same pattern exists in other inheritable forms of ID and conduct more qualitative research on FXS in Africa.

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21. Khan M. Balancing non-discrimination and risk management in mental health legislation for autism. The British journal of psychiatry : the journal of mental science. 2021 ; 218(1) : 63-4.

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22. Koo HW, Ismail J, Yang WW, Syed Zakaria SZ. Sleep Disturbances in Children With Autism Spectrum Disorder at a Malaysian Tertiary Hospital. Front Pediatr. 2020 ; 8 : 608242.

Introduction : Children with autism spectrum disorder (ASD) have a variety of co-morbid medical problems, including sleep disturbances. Prevalence of sleep disorders has been reported to be higher in this group as compared to the general population. Identifying sleep problems in children with ASD may help increase awareness and improve the overall quality of care for them. The aim of this study was to determine the prevalence of sleep problems and associated factors in a group of Malaysian children aged 6-16 years, with ASD. Method : This is a cross-sectional study at the Child Development Centre of UKM Medical Centre (UKM MC) on ASD children aged 6-16 years. Demographic data was obtained and the Sleep Disturbances Scale for Children (SDSC) questionnaire was completed by the main caregiver. Logistic regression analysis was used to determine factors related to higher total SDSC scores. Results : A total of 128 patients were recruited (111 boys) with a median age of 8 years 3 months (IQR : 2 years 10 months). Forty-seven (36.7%) of them obtained total SDSC scores in the pathological range with 19 (14.8%) scoring high for overall disturbances and 28 (21.9%) for at least one subtype of sleep disorders : 25 (19.5%) DIMS, 18 (14.1%) SBD, 10 (7.8%) DOES, 5 (3.9%) DOA, 6 (4.7%) SWTD, and 3 (2.3%) SHY. More than half of the children (57.8%) were reported to have sufficient sleep duration of 8-11 h, but longer sleep latency of at least 15 min (82.8%). Half of the ASD children also had co-morbidities in which one-third (34.4%) had attention-deficit hyperactivity disorder (ADHD). Using logistic regression analysis, four factors were significantly associated with higher total SDSC scores ; female gender (p = 0.016), older age group (11-16 years old) (p = 0.039), shorter sleep length (p = 0.043), and longer sleep latency (p < 0.001). Conclusion : The prevalence of sleep disturbances is high among Malaysian children with ASD, especially DIMS. Female gender, older age group, shorter sleep length, and longer sleep latency were found to be associated with the sleep disturbances. Evaluation of sleep problems should form part of the comprehensive care of children with ASD.

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23. Lalanne S, Fougerou-Leurent C, Anderson GM, Schroder CM, Nir T, Chokron S, Delorme R, Claustrat B, Bellissant E, Kermarrec S, Franco P, Denis L, Tordjman S. Melatonin : From Pharmacokinetics to Clinical Use in Autism Spectrum Disorder. International journal of molecular sciences. 2021 ; 22(3).

The role of melatonin has been extensively investigated in pathophysiological conditions, including autism spectrum disorder (ASD). Reduced melatonin secretion has been reported in ASD and led to many clinical trials using immediate-release and prolonged-release oral formulations of melatonin. However, melatonin’s effects in ASD and the choice of formulation type require further study. Therapeutic benefits of melatonin on sleep disorders in ASD were observed, notably on sleep latency and sleep quality. Importantly, melatonin may also have a role in improving autistic behavioral impairments. The objective of this article is to review factors influencing treatment response and possible side effects following melatonin administration. It appears that the effects of exposure to exogenous melatonin are dependent on age, sex, route and time of administration, formulation type, dose, and association with several substances (such as tobacco or contraceptive pills). In addition, no major melatonin-related adverse effect was described in typical development and ASD. In conclusion, melatonin represents currently a well-validated and tolerated treatment for sleep disorders in children and adolescents with ASD. A more thorough consideration of factors influencing melatonin pharmacokinetics could illuminate the best use of melatonin in this population. Future studies are required in ASD to explore further dose-effect relationships of melatonin on sleep problems and autistic behavioral impairments.

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24. Lee CE, Burke MM. A Pilot Study of a Future Planning Program for Siblings of People With Intellectual and Developmental Disabilities. Intellectual and developmental disabilities. 2021 ; 59(1) : 70-83.

Given the increased longevity of people with intellectual and developmental disabilities (IDD), future planning programs are becoming increasingly common. However, although siblings are likely to fulfill caregiving roles for people with IDD, siblings have not been included in future planning interventions. The purpose of this study was to evaluate the outcomes and feasibility of the Sibling Training for Early future Planning (STEP) program. Using quantitative and qualitative data, 18 siblings of individuals with IDD participated in the study. After completing the STEP program, participants demonstrated significantly improved feelings of empowerment, disability connectedness, family communication, and knowledge of adult disability services. The STEP program was also feasible given high attendance, low attrition rates, and high participant satisfaction. Implications for research and practice are discussed.

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25. Li H, Parish SL, Magaña S, Morales MA. Racial and Ethnic Disparities in Perceived Barriers to Health Care Among U.S. Adults With Intellectual and Developmental Disabilities. Intellectual and developmental disabilities. 2021 ; 59(1) : 84-94.

Barriers to health care access can greatly affect one’s health status. Research shows that U.S. adults with intellectual and developmental disabilities (IDD) have poor health and face barriers such as long waits for appointments. However, whether barriers differ by race and ethnicity has not been examined. We conducted a secondary data analysis using the 2002-2011 Medical Expenditure Panel Survey dataset, and compared perceived barriers of community-living U.S. adults with IDD in three racial and ethnic groups (White, Black, and Latinx). Specifically, we examined the top reasons for not having usual source of care, delaying or foregoing medical care. For Black and Latinx adults with IDD, the most-mentioned reasons for not having usual source of care, delaying or foregoing medical care were « don’t like/don’t trust doctors, » « don’t use doctors, » and « don’t know where to get care. » In comparison, the White adults with IDD group’s biggest perceived barriers were location and insurance related. All groups cited that being unable to afford care was a top reason for delaying or foregoing care. Policies/interventions to improve health care access in racial/ethnic minorities with IDD must first address the topic of developing trust between patients and the health professions. Insurance and the rising costs of care are also key areas that need attention.

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26. O’Connor R, van De Wouw M, Moloney GM, Ventura-Silva AP, O’Riordan K, Golubeva AV, Dinan TG, Schellekens H, Cryan JF. Strain differences in behaviour and immunity in aged mice : Relevance to Autism. Behav Brain Res. 2021 ; 399 : 113020.

The BTBR mouse model has been shown to be associated with deficits in social interaction and a pronounced engagement in repetitive behaviours. Autism spectrum disorder (ASD) is the most prevalent neurodevelopmental condition globally. Despite its ubiquity, most research into the disorder remains focused on childhood, with studies in adulthood and old age relatively rare. To this end, we explored the differences in behaviour and immune function in an aged BTBR T + Itpr3tf/J mouse model of the disease compared to a similarly aged C57bl/6 control. We show that while many of the alterations in behaviour that are observed in young animals are maintained (repetitive behaviours, antidepressant-sensitive behaviours, social deficits & cognition) there are more nuanced effects in terms of anxiety in older animals of the BTBR strain compared to C57bl/6 controls. Furthermore, BTBR animals also exhibit an activated T-cell system. As such, these results represent confirmation that ASD-associated behavioural deficits are maintained in ageing, and that that there may be need for differential interventional approaches to counter these impairments, potentially through targeting the immune system.

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27. O’Rourke E, Coderre EL. Implicit Semantic Processing of Linguistic and Non-linguistic Stimuli in Adults with Autism Spectrum Disorder. J Autism Dev Disord. 2021.

While many individuals with autism spectrum disorder (ASD) experience difficulties with language processing, non-linguistic semantic processing may be intact. We examined neural responses to an implicit semantic priming task by comparing N400 responses-an event-related potential related to semantic processing-in response to semantically related or unrelated pairs of words or pictures. Adults with ASD showed larger N400 responses than typically developing adults for pictures, but no group differences occurred for words. However, we also observed complex modulations of N400 amplitude by age and by level of autistic traits. These results offer important implications for how groups are delineated and compared in autism research.

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28. Osório JMA, Rodríguez-Herreros B, Romascano D, Junod V, Habegger A, Pain A, Richetin S, Yu P, Isidor B, Van Maldergem L, Pons L, Manificat S, Chabane N, Jequier Gygax M, Maillard AM. Touch and olfaction/taste differentiate children carrying a 16p11.2 deletion from children with ASD. Mol Autism. 2021 ; 12(1) : 8.

BACKGROUND : Sensory processing atypicalities are frequent in Autism Spectrum Disorder (ASD) and neurodevelopmental disorders (NDD). Different domains of sensory processing appear to be differentially altered in these disorders. In this study, we explored the sensory profile of two clinical cohorts, in comparison with a sample of typically developing children. METHODS : Behavioral responses to sensory stimuli were assessed using the Sensory Processing Measure (parent-report questionnaire). We included 121 ASD children, 17 carriers of the 16p11.2 deletion (Del 16p11.2) and 45 typically developing (TD) children. All participants were aged between 2 and 12 years. Additional measures included the Tactile Defensiveness and Discrimination Test-Revised, Wechsler Intelligence Scales and Autism Diagnostic Observation Schedule (ADOS-2). Statistical analyses included MANCOVA and regression analyses. RESULTS : ASD children score significantly higher on all SPM subscales compared to TD. Del16p11.2 also scored higher than TD on all subscales except for tactile and olfactory/taste processing, in which they score similarly to TD. When assessing sensory modulation patterns (hyper-, hypo-responsiveness and seeking), ASD did not significantly differ from del16p11.2. Both groups had significantly higher scores across all patterns than the TD group. There was no significant association between the SPM Touch subscale and the TDDT-R. LIMITATIONS : Sensory processing was assessed using a parent-report questionnaire. Even though it captures observable behavior, a questionnaire does not assess sensory processing in all its complexity. The sample size of the genetic cohort and the small subset of ASD children with TDDT-R data render some of our results exploratory. Divergence between SPM Touch and TDDT-R raises important questions about the nature of the process that is assessed. CONCLUSIONS : Touch and olfaction/taste seem to be particularly affected in ASD children compared to del16p11.2. These results indicate that parent report measures can provide a useful perspective on behavioral expression. Sensory phenotyping, when combined with neurobiological and psychophysical methods, might have the potential to provide a better understanding of the sensory processing in ASD and in other NDD.

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29. Qazi I, Watts J, Comisky D, Okoro C. The case for removing intellectual disability and autism from the Mental Health Act – further debate required. The British journal of psychiatry : the journal of mental science. 2021 ; 218(1) : 66.

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30. Schafer ST, Gage FH. The When and Where : Molecular and Cellular Convergence in Autism. Biol Psychiatry. 2021 ; 89(5) : 419-20.

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31. Schiltz HK, Magnus BE. Differential Item Functioning Based on Autism Features, IQ, and Age on the Screen for Child Anxiety Related Disorders (SCARED) Among Youth on the Autism Spectrum. Autism Res. 2021.

Anxiety commonly occurs among youth on the autism spectrum, yet measurement of anxiety in this population is complicated by a number of factors, including potentially overlapping symptomatology, the child’s intellectual functioning, and changes in anxiety across development. Moreover, few studies have examined the psychometric properties of anxiety measures in this population, and no study to date has tested whether there are systematic differences in the measurement of anxiety, or differential item functioning (DIF), across the high degree of heterogeneity and the developmental course of autism. To test this possibility, data were combined across multiple studies using the National Database for Autism Research, an NIH-funded data repository. Parent-report on the Screen for Child Anxiety Related Disorders (SCARED) and Social Communication Questionnaire (SCQ) were used as measures of anxiety and autism features, respectively. A confirmatory factor analysis indicated good fit of the literature standard five-factor structure. Moderated nonlinear factor analysis (MNLFA) revealed multiple items with intercept and loading DIF based on level of autism features, IQ, and age, especially for items related to social behavior. Therefore, although the measure’s factor structure is consistent with that found in the general population, the SCARED may not capture differences in anxiety equivalently for all children on the spectrum and across their development. Clinicians and researchers need to be especially vigilant in measuring anxiety symptoms in children with autism by removing items flagged for DIF from the SCARED and/or by using multiple measures and informants. LAY ABSTRACT : Autistic youth often experience clinical levels of anxiety. Many tools used to measure anxiety were developed for the general population, but not for use with autistic youth. This study found that the Screen for Child Anxiety Related Disorders (SCARED) measures the same five dimensions of anxiety as in the general population. Parents, however, may respond differently to questions on the SCARED based on their child’s autism features, intellectual functioning, and age, which impacts our ability to accurately measure anxiety among autistic youth.

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32. Shogren KA, Dean EE, Burke KM, Raley SK, Taylor JL. Goal Attainment Scaling : A Framework for Research and Practice in the Intellectual and Developmental Disabilities Field. Intellectual and developmental disabilities. 2021 ; 59(1) : 7-21.

Goal setting and attainment is often a targeted outcome in the intellectual and developmental disabilities field ; however, standardizing the measurement of attainment of individualized goals is challenging. The purpose of this article is to introduce a four-domain framework that provides a series of questions to research and evaluation teams in planning for the use of goal attainment scaling (GAS) as an outcome measure at the individual or aggregate level. We intend to stimulate discussion and ongoing work to further systematize how GAS is used in (a) intervention research to establish evidence-based practices and (b) practice to assess the extent to which interventions and supports lead to intended outcomes. The goal is to promote a clear planning process to inform data collection on individualized goal attainment outcomes that are rooted in goals and outcomes valued by people with intellectual and developmental disabilities.

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33. Siracusano M, Segatori E, Riccioni A, Emberti Gialloreti L, Curatolo P, Mazzone L. The Impact of COVID-19 on the Adaptive Functioning, Behavioral Problems, and Repetitive Behaviors of Italian Children with Autism Spectrum Disorder : An Observational Study. Children (Basel, Switzerland). 2021 ; 8(2).

Children with autism spectrum disorder (ASD) and their families have represented a fragile population on which the extreme circumstances of the COVID-19 outbreak may have doubly impaired. Interruption of therapeutical interventions delivered in-person and routine disruption constituted some of the main challenges they had to face. This study investigated the impact of the COVID-19 lockdown on adaptive functioning, behavioral problems, and repetitive behaviors of children with ASD. In a sample of 85 Italian ASD children (mean age 7 years old ; 68 males, 17 females), through a comparison with a baseline evaluation performed during the months preceding COVID-19, we evaluated whether after the compulsory home confinement any improvement or worsening was reported by parents of ASD individuals using standardized instruments (Adaptive Behavior Assessment System (Second Edition), Achenbach Child Behavior Checklist, Repetitive Behavior Scale-Revised). No significant worsening in the adaptive functioning, problematic, and repetitive behaviors emerged after the compulsory home confinement. Within the schooler children, clinical stability was found in reference to both adaptive skills and behavioral aspects, whereas within preschoolers, a significant improvement in adaptive skills emerged and was related to the subsistence of web-delivered intervention, parental work continuance, and online support during the lockdown.

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34. Wang X, Ding R, Song Y, Wang J, Zhang C, Han S, Han J, Zhang R. Transcutaneous Electrical Acupoint Stimulation in Early Life Changes Synaptic Plasticity and Improves Symptoms in a Valproic Acid-Induced Rat Model of Autism. Neural plasticity. 2020 ; 2020 : 8832694.

Autism spectrum disorder (ASD) is a developmental disorder characterized by social behavior deficit in childhood without satisfactory medical intervention. Transcutaneous electrical acupoint stimulation (TEAS) is a noninvasive technique derived from acupuncture and has been shown to have similar therapeutic effects in many diseases. Valproic acid- (VPA-) induced ASD is a known model of ASD in rats. The therapeutic efficacy of TEAS was evaluated in the VPA model of ASD in the present study. The offspring of a VPA-treated rat received TEAS in the early life stage followed by a series of examinations conducted in their adolescence. The results show that following TEAS treatment in early life, the social and cognitive ability in adolescence of the offspring of a VPA rat were significantly improved. In addition, the abnormal pain threshold was significantly corrected. Additional studies demonstrated that the dendritic spine density of the primary sensory cortex was decreased with Golgi staining. Results of the transcriptomic study showed that expression of some transcription factors such as the neurotrophic factor were downregulated in the hypothalamus of the VPA model of ASD. The reduced gene expression was reversed following TEAS. These results suggest that TEAS in the early life stage may mitigate disorders of social and recognition ability and normalize the pain threshold of the ASD rat model. The mechanism involved may be related to improvement of synaptic plasticity.

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35. White SJ, Gerber D, Sanchez Hernandez RD, Efiannayi A, Chowdhury I, Partington H, Moss JF. Autistic traits and mental health in women with the fragile-X premutation : maternal status versus genetic risk. The British journal of psychiatry : the journal of mental science. 2021 ; 218(1) : 28-34.

BACKGROUND : Research on women with the fragile-X premutation (FX-p) has been underrepresented within the field of behavioural phenotypes. AIMS : To understand whether the FX-p confers risk for autistic traits, depression and anxiety, independent of maternal status. METHOD : In study 1, mothers of children with fragile-X syndrome (M-FXp ; n = 51, mean age 43 years (s.d. = 5.80)) were compared with mothers of autistic children (M-ASD ; n = 59, mean age 42 (s.d. = 5.80)), mothers of children with Smith-Magenis syndrome (M-SMS ; n = 27, mean age 39 (s.d. = 7.20)) and mothers of typically developing children (M-TD ; n = 44, mean age 40 (s.d. = 4.90)). In study 2, the M-FXp group were compared with non-mothers with the FX-p (NM-FXp ; n = 17, mean age 32 (s.d. = 9.20)), typically developed non-mothers (NM-TD ; n = 28, mean age 31 (s.d. = 6.80)) and the M-TD group. All participants completed an online survey, including measures of IQ, autistic traits, anxiety, depression and positive affect. RESULTS : In study 1 : the M-FXp group reported more autistic traits than the M-TD group (P < 0.05, η2 = 0.046). Anxiety and parental stress were elevated in the M-FXp, M-SMS and M-ASD groups relative to the M-TD group (all P ≤ 0.003, η2 = 0.079-0.322). In study 2 : a main effect of premutation status indicated that women with the FX-p report elevated autistic traits and anxiety (P ≤ 0.007, η2 = 0.055-0.060) ; this did not interact with maternal status. CONCLUSIONS : The findings indicate that women with the FX-p show an increased risk for autistic traits and anxiety. This risk is specific to the presence of the FX-p and is not fully accounted for by maternal status or the stress of caring for children with neurodevelopmental disorders.

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36. Zeidler S, Severijnen LA, de Boer H, van der Toorn EC, Ruivenkamp CAL, Bijlsma EK, Willemsen R. A missense variant in the nuclear export signal of the FMR1 gene causes intellectual disability. Gene. 2021 ; 768 : 145298.

Fragile X syndrome (FXS) is the most common monogenetic cause of intellectual disability and autism spectrum disorders. Mostly, FXS is caused by transcriptional silencing of the FMR1 gene due to a repeat expansion in the 5′ UTR, and consequently lack of the protein product FMRP. However, in rare cases FXS is caused by other types of variants in the FMR1 gene. We describe a missense variant in the FMR1 gene, identified through whole-exome sequencing, in a boy with intellectual disability and behavioral problems. The variant is located in the FMRP’s nuclear export signal (NES). We performed expression and localization studies of the variant in hair roots and HEK293 cells. Our results show normal expression but significant retention of the FMRP in the cells’ nucleus. This finding suggests a possible FMRP reduction at its essential functional sites in the dendrites and the synaptic compartments and possible interference of other cellular processes in the nucleus. Together, this might lead to a FXS phenotype in the boy.

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