1. Alvares MA, Serra MJR, Delgado I, Carvalho JC, Sotine TCC, Ali YA, Oliveira MRM, Rullo VEV. Use of probiotics in pediatric patients with autism spectrum disorder: a systematic review. Revista da Associacao Medica Brasileira (1992). 2021; 67(10): 1503-7.

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2. Aquino L, Muniz JC, Laufer PM, Prieto LR. Gore Cardioform ASD device thrombus weeks after COVID-19 infection. Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & Interventions. 2022; 99(4): 1161-4.

Device-related thrombosis and device-related endocarditis after atrial septal defect (ASD) transcatheter closure are extremely rare. It is known that COVID-19 infection could lead to a thrombotic microangiopathy-like phenomenon. We present the case of a 14-year-old female who developed fever and was found to have a thrombus on the right atrial side of the ASD closure device weeks after an asymptomatic COVID-19 infection and negative COVID-19 test 2 days before transcatheter ASD closure. Although there is no certainty that the thrombus was related to the prior COVID-19 infection, the possibility of an ongoing COVID-19-related hypercoagulable state should be entertained.

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3. Brinster MI, Brukilacchio BH, Fikki-Urbanovsky A, Shahidullah JD, Ravenscroft S. Improving Efficiency and Equity in Early Autism Evaluations: The (S)TAAR Model. Journal of autism and developmental disorders. 2022: 1-10.

This paper describes the (Sin Exclusión) Transdisciplinary Autism Assessment and Resources ([S]TAAR) model and presents early metrics tracking efficiency and equity in access to high-quality comprehensive autism evaluations for young children. Retrospective chart reviews over one year (08/2018-08/2019) with n = 173 children were reviewed. Through care coordination with community providers, the model was developed to meet local needs by increasing throughput of children (< 4 years old) evaluated by a transdisciplinary team. Team-based processes included pre-visit triage, synchronous evaluation procedures, case conferencing, huddles, and care coordination. The model led to increased patient throughput, reductions in waitlist and time to diagnosis, and improved provider satisfaction. Improvements in access to care were equitable across patient race, ethnicity, language, and insurance type.

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4. Byrne G, Ghráda Á N, O’Mahony T. Parent-Led Cognitive Behavioural Therapy for Children with Autism Spectrum Conditions. A Pilot Study. Journal of autism and developmental disorders. 2022: 1-12.

This article reports on a pilot study of a parent-only cognitive behavioural therapy (CBT) programme for parents of children with autism spectrum disorders (ASD) and anxiety difficulties. Twenty-one parents of anxious children with ASD (5-11 of age) completed the From Timid to Tiger intervention. Parent outcome measures were assessed at post-intervention and at 3-month follow-up. Analysis indicated significant reductions in both parent and clinician reports of child anxiety symptoms. Specifically, 38% of children were free of their primary diagnosis at treatment end and this increased to 57% when measured at 3-month follow-up. Positive gains were evidenced regarding parents’ ability to manage their child’s anxiety without accommodating to it. The results provide preliminary evidence of parent-only CBT programs for children with ASD.

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5. Feller C, Ilen L, Eliez S, Schneider M. Characterizing Daily-Life Social Interactions in Adolescents and Young Adults with Neurodevelopmental Disorders: A Comparison Between Individuals with Autism Spectrum Disorders and 22q11.2 Deletion Syndrome. Journal of autism and developmental disorders. 2022.

Social impairments are common features of 22q11.2 deletion syndrome (22q11DS) and autism spectrum disorders (ASD). The Ecological Momentary Assessment (EMA) allowed access to daily-life information in order to explore the phenomenology of social interactions. 32 individuals with 22q11DS, 26 individuals with ASD and 44 typically developing peers (TD) aged 12-30 were assessed during 6 days 8 times a day using a mobile app. Participants with 22q11DS and ASD did not spend more time alone but showed distinct implication in the social sphere than TD. Distinct profiles emerged between the two conditions regarding the subjective experience of aloneness and the subjective experience of social interactions. This study highlights distinct social functioning profiles in daily-life in 22q11DS and ASD that points towards different therapeutic targets.

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6. Ferreira C, Caetano SC, Perissinoto J, Tamanaha AC. Repercussion of the implementation of the Picture Exchange Communication System – PECS in the overload index of mothers of children with Autism Spectrum Disorder. CoDAS. 2022; 34(3): e20210109.

PURPOSE: The aim of this study was to analyze the repercussion of the implementation of PECS on the burden index of mothers of children with Autism Spectrum Disorder (ASD). METHODS: This was a longitudinal study (CEP 0403/2017). The sample consisted of 20 mother and child with ASD. The mothers were on average 41 years and 5 months and the children were 7 years and 2 months old. Fifteen children were male and five were female. The brazilian version of the Burden Interview scale was applied to verify the level of caregiver burden. The Autism Behavior Checklist (ABC) was applied to the analysis of non-adaptive behaviors and to analyze the lexical repertoire: Auditory and Expressive Vocabulary Tests. The PECS Implementation Program was composed of 24 sessions of individual speech therapy with the active presence of mothers. At the end all children and mothers were reevaluated with part of the instruments. RESULTS: There was a tendency to reduce maternal overload indexes after the implementation of the PECS. There was a significant decrease in non-adaptive behaviors and an increase in the expressive and auditory vocabulary indexes of the children at the final moment of the study. We did not observe a significant correlation between the degrees of overload with age, schooling and intellectual quotient of children, nor schooling and maternal socioeconomic status. CONCLUSION: It was possible to analyze the repercussion of the implementation of the PECS on the burden of mothers of children with ASD assisted by the Program.

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7. Gillies-Walker L, Ramzan N, Rankin J, Nimbley E, Gillespie-Smith K. « You Feel Like You Kind of Walk Between the Two Worlds »: A Participatory Study Exploring How Technology Can Support Emotion Regulation for Autistic People. Journal of autism and developmental disorders. 2022.

An increasing amount of technological solutions aiming to support emotion regulation are being developed for Autistic people. However, there remains a lack of understanding of user needs, and design factors which has led to poor usability and varied success. Furthermore, studies assessing the feasibility of emotion regulation technology via physiological signals for autistic people are increasingly showing promise, yet to date there has been no exploration of views from the autistic community on the benefits/challenges such technology may present in practice. Focus groups with autistic people and their allies were conducted to gain insight into experiences and expectations of technological supports aimed at supporting emotion regulation. Reflexive thematic analysis generated three themes: (1) communication challenges (2) views on emotion regulation technology (3) ‘how’ technology is implemented. Results provide meaningful insight into the socio-emotional communication challenges faced by autistic people, and explore the expectations of technology aimed at supporting emotion regulation.

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8. McDonnell CG, Andrzejewski T, Dike J. Intergenerational trauma: Parental PTSD and parent-reported child abuse subtypes differentially relate to admission characteristics in the autism inpatient collection. Autism research : official journal of the International Society for Autism Research. 2022; 15(4): 665-76.

Autistic youth experience high rates of maltreatment. Little research has considered how distinct abuse dimensions differentially relate to meaningful outcomes, nor taken an intergenerational approach to consider how caregiver trauma and child maltreatment are related. This study sought to identify how parent-reported child abuse subtypes and parent posttraumatic stress disorder (PTSD) relate to each other and to admission characteristics upon inpatient service entry. Autistic youth (N = 527; 79% White, 21.3% girls, mean age = 12.94 years) participated in the autism inpatient collection. Parents reported on child abuse subtypes (physical, sexual, emotional) and their own PTSD, child behavior and emergency services, and parenting stress. Youth of parents with PTSD were nearly three times more likely to have parent-reported physical and emotional abuse. Autistic girls were more likely to experience parent-reported sexual abuse and a higher number of subtypes. Lower income related to higher rates of parent-reported child emotional abuse and parent PTSD. Emotional abuse associated with child behavior whereas both child physical and emotional abuse related to emergency services. Reported parent PTSD associated with child behavior and parental distress. When considered jointly, parent PTSD and number of parent-reported child abuse subtypes differentially related to child behavior and interacted to predict psychiatric hospitalizations. Intergenerational continuity of trauma is important to consider among autistic youth, and both parent-reported child abuse and parent PTSD relate to admission characteristics. Critical limitations include reliance on binary parent reports of child abuse and parent PTSD and the low representation of youth of minoritized identities. Implications for trauma-informed care are discussed. LAY SUMMARY: Autistic youth whose parents had reported posttraumatic stress disorder (PTSD) were nearly three times more likely to have experienced parent-reported physical and emotional abuse. Parent-reported child emotional abuse uniquely related to child behavioral concerns whereas both physical and emotional abuse related to higher emergency services. Parent PTSD also related to admission characteristics, showing that intergenerational continuity of trauma is critical to consider for understanding child maltreatment among autistic youth.

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9. Morales JA, Valenzuela I, Cuscó I, Cogné B, Isidor B, Matalon DR, Gomez-Ospina N. Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant. American journal of medical genetics Part A. 2022; 188(5): 1396-406.

WAC-related intellectual disability (ID) is a rare genetic condition characterized by a spectrum of neurodevelopmental disorders of varying severity, including global developmental delay (GDD), ID, and autism spectrum disorder. Here, we describe five affected individuals, age range 9-20 years, and provide proof of pathogenicity of a novel splicing variant. All individuals presented with GDD, some degree of ID, and variable dysmorphism. Except for feeding difficulties, all patients were healthy without major congenital malformations or medical comorbidities. All individuals were heterozygous for de novo, previously unreported, loss of function variants in WAC. Three unrelated patients from different ethnic backgrounds shared the intronic variant c.381+4_381+7delAGTA, which was predicted to alter splicing and was initially classified as a variant of uncertain significance. Reverse transcription-polymerase chain reaction analysis from one patient’s cells confirmed aberrant splicing of the WAC transcript resulting in premature termination and a truncated protein p.(Gly92Alafs*2). These functional studies and the identification of several nonrelated individuals provide sufficient evidence to classify this variant as pathogenic. The clinical description of these five individuals and the three novel variants expand the genotypic and phenotypic spectrum of this ultrarare disease.

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10. Mota FSB, Nascimento KS, Oliveira MV, Osterne VJS, Clemente JCM, Correia-Neto C, Lima-Neto AB, van Tilburg MF, Leal-Cardoso JH, Guedes MIF, Cavada BS. Potential protein markers in children with Autistic Spectrum Disorder (ASD) revealed by salivary proteomics. International journal of biological macromolecules. 2022; 199: 243-51.

The lack of specific pharmacological therapy for Autistic Spectrum Disorder (ASD) and its clinical heterogeneity demand efforts directed toward the identification of biomarkers to aid in diagnosis. Proteomics offers a new perspective for studying the altered proteins associated with autism spectrum disorders (ASD) and we have saliva as an easy-to-collect biological fluid with important biomolecules for investigating biomarkers in various diseases. In this sense, saliva could be used to identify potential biomarkers of ASD. In the current work, saliva samples were collected from children with different degrees of ASD and healthy children and proteomics approaches were applied to generate data on differentially expressed proteins between groups which will serve as a basis for future validation studies as protein markers. Data are available via ProteomeXchange with identifier PXD030065. As results, 132 proteins were present in 80% of the saliva pools of all analyzed groups. Twenty-five proteins were identified as overexpressed in the group of severe and mild/moderate ASD carriers, among which, eight were identified as potential biomarkers for ASD.

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11. Petty S, Tunstall L, Richardson H, Eccles N. Workplace Adjustments for Autistic Employees: What is ‘Reasonable’?. Journal of autism and developmental disorders. 2022: 1-9.

Autistic adults are inadequately supported in the workplace. This study sought a definition of ‘reasonable’ and explored facilitators and barriers to employers making reasonable adjustments. 98 employers and employees across a UK city completed a survey; 15% identified as being autistic. Qualitative data were analysed using framework analysis. Reasonable adjustments were defined as having a positive impact on autistic employees’ wellbeing and work outputs without being detrimental to non-autistic employees or the organisation; they were low cost and easily implemented. Recommendations were for autism awareness training, low-stimulus work spaces, clear instructions and flexible working hours. A definition of reasonable is added to the literature, with suggestions of where to invest support efforts. Recommendations mostly apply to the education sector.

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12. Savickaite S, Morrison C, Lux E, Delafield-Butt J, Simmons DR. The use of a tablet-based app for investigating the influence of autistic and ADHD traits on performance in a complex drawing task. Behavior research methods. 2022.

This paper describes a smart tablet-based drawing app to digitally record participants’ engagement with the Rey-Osterrieth complex figure (ROCF) task, a well-characterised perceptual memory task that assesses local and global memory. Digitisation of the tasks allows for improved ecological validity, especially in children attracted to tablet devices. Further, digital translation of the tasks affords new measures, including accuracy and computation of the fine motor control kinematics employed to carry out the drawing Here, we report a feasibility study to test the relationship between two neurodevelopmental conditions: autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). The smart tablet app was employed with 39 adult participants (18-35) characterised for autistic and ADHD traits, and scored using the ROCF perceptual and organisational scoring systems. Trait scores and conditions were predictor variables in linear regression models. Positive correlations were found between the attention-to-detail, attention-switching and communication subscales of the autistic trait questionnaire and organisational scores on the ROCF task. These findings suggest that autistic traits might be linked to differential performance on the ROCF task. Novelty and future applications of the app are discussed.

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13. Sheppard K, Gardin J, Sabnis GS, Peer A, Darrell M, Deats S, Geuther B, Lutz CM, Kumar V. Stride-level analysis of mouse open field behavior using deep-learning-based pose estimation. Cell reports. 2022; 38(2): 110231.

Gait and posture are often perturbed in many neurological, neuromuscular, and neuropsychiatric conditions. Rodents provide a tractable model for elucidating disease mechanisms and interventions. Here, we develop a neural-network-based assay that adopts the commonly used open field apparatus for mouse gait and posture analysis. We quantitate both with high precision across 62 strains of mice. We characterize four mutants with known gait deficits and demonstrate that multiple autism spectrum disorder (ASD) models show gait and posture deficits, implying this is a general feature of ASD. Mouse gait and posture measures are highly heritable and fall into three distinct classes. We conduct a genome-wide association study to define the genetic architecture of stride-level mouse movement in the open field. We provide a method for gait and posture extraction from the open field and one of the largest laboratory mouse gait and posture data resources for the research community.

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14. Tsai MM, Lee NC, Chien YH, Hwu WL, Tung YC. Short stature leads to a diagnosis of Jansen-de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review. Journal of the Formosan Medical Association = Taiwan yi zhi. 2022; 121(4): 856-60.

Short stature and intellectual disability are two of the major components of many dysmorphic syndromes. Jansen-de Vries syndrome (JDVS) is a rare syndromic disorder that was discovered recently using next-generation sequencing. It is characterized by hypotonia, developmental delay, a dysmorphic face, short stature, and high pain threshold and is caused by the variants of the protein phosphatase magnesium-dependent 1D (PPM1D) gene. Here, we report the first two cases of PPM1D mutations in Taiwan; both had de novo variants in exon 6. Both presented with short stature, developmental delay, and dysmorphic faces. In addition to the characteristics listed above, syndactyly was noted in one. Genetic studies should be considered when approaching a patient with growth retardation, intellectual disability, and other major or minor dysmorphisms.

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15. Williams ZJ, Gotham KO. Current and lifetime somatic symptom burden among transition-aged autistic young adults. Autism research : official journal of the International Society for Autism Research. 2022; 15(4): 761-70.

Somatic symptoms are the most common cause of outpatient medical visits in the general population, yet their presence and severity in individuals on the autism spectrum has rarely been studied. We sought to assess the prevalence, impact, and clinical correlates of 14 commonly reported somatic symptoms in a sample of 290 transition-aged autistic young adults (mean [SD] age: 23.10 [2.38] years, range 18-26; 76.7% diagnosed with autism before age 18) recruited from the Simons Foundation SPARK participant pool. A modified version of the Patient Health Questionnaire-15 was used to assess somatic symptom prevalence/impact, along with measures of depression, anxiety, autistic traits, and quality of life. Somatic symptom burden was much higher in autistic young adults than previously reported in the general population. The most commonly reported current symptoms were fatigue (72.8%), sleep problems (69.0%), and menstrual problems (61.4% of females). Moderate or severe symptom levels were reported by 53.9% of females and 18.75% of males in our cohort, with the odds of females endorsing any given symptom being 2-4 times greater than males. Both individual symptoms and total symptom burden were related to higher levels of depression, anxiety, and autistic traits, along with lower quality of life. Despite little research on this topic previously, somatic symptoms are highly prevalent in autistic young adults, particularly women. Future research is needed to investigate links between somatic symptoms, medical and psychiatric morbidity, and health care utilization in the autistic population. LAY SUMMARY: Somatic symptoms (i.e., physical symptoms such as such as pain, weakness, stomachache, or shortness of breath) are highly prevalent in the general population and account for a large proportion of health care costs. However, few studies have investigated how often these symptoms are reported by autistic adults or their associations with other clinical and demographic variables. Based on self-report data from 290 young autistic adults, we found very high rates of bothersome somatic symptoms in this population, with females endorsing all symptoms at substantially higher rates than males. Somatic symptoms were also associated with worse mental health and quality of life, suggesting that they represent an overlooked contributor to poor health outcomes in the autistic adult population.

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