1. Ang CS, MacDougall FA. An Evaluation of Animal-Assisted Therapy for Autism Spectrum Disorders: Therapist and Parent Perspectives. Psychological studies. 2022; 67(1): 72-81.

Although there are a variety of psychological and therapeutic approaches to coping Autism Spectrum Disorder, people with autism still face some challenges in a « normal » therapy setting. Some therapy organizations and services have proposed an alternative therapy approach, Animal-assisted therapy (AAT). The aim of this phenomenological study was to gain a better understanding of the therapists and parents of individuals who choose the alternative approach, AAT. Data were collected through structured interviews with a group of three therapists and four parents. An analysis of the data revealed three main themes; the first theme named the perceived benefits of AAT with three subthemes consisting of physical benefits, sensory benefits and emotional benefits. The second theme is named the way AAT works with subthemes of client-centred therapy and mixed models, and the third theme is potential limitations of AAT. Limitations and suggestions for future research are discussed.

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2. Armstrong JL, Saraf TS, Bhatavdekar O, Canal CE. Spontaneous seizures in adult Fmr1 knockout mice: FVB.129P2-Pde6b(+)Tyr(c-ch)Fmr1(tm1Cgr)/J. Epilepsy research. 2022; 182: 106891.

The prevalence of seizures in individuals with fragile X syndrome (FXS) is ~25%; however, there are no reports of spontaneous seizures in the Fmr1 knockout mouse model of FXS. Herein, we report that 48% of adult (median age P96), Fmr1 knockout mice from our colony were found expired in their home cages. We observed and recorded adult Fmr1 knockout mice having spontaneous convulsions in their home cages. In addition, we captured by electroencephalography an adult Fmr1 knockout mouse having a spontaneous seizure-during preictal, ictal, and postictal phases-which confirmed the presence of a generalized seizure. We did not observe this phenotype in control conspecifics or in juvenile (age

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3. Gore N, Bradshaw J, Hastings R, Sweeney J, Austin D. Early positive approaches to support (E-PAtS): Qualitative experiences of a new support programme for family caregivers of young children with intellectual and developmental disabilities. Journal of applied research in intellectual disabilities : JARID. 2022; 35(3): 889-99.

BACKGROUND: Early Positive Approaches to Support (E-PAtS) is a co-produced and co-facilitated group programme that aims to provide early years support to family caregivers of children with Intellectual and Developmental Disabilities. METHOD: Thirty-five caregivers who had attended E-PAtS groups took part in individual interviews or focus groups. Caregiver experiences concerning attendance of E-PAtS were explored, in relation to process variables and perceived outcomes. Interviews were thematically analysed. RESULTS: Three major themes were identified: our group, evolving emotions, and positive approaches. Being with and being supported by other families was very important to caregivers. Families reported increased confidence and greater realisation of the need for self-care. Children were reported to show fewer behaviours that challenge and increases in adaptive skills. Findings corresponded to mechanisms and outcomes in the E-PAtS logic model. CONCLUSION: E-PAtS shows promise as one way families and children with Intellectual and Developmental Disabilities can access early years support.

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4. He L, Caudill MS, Jing J, Wang W, Sun Y, Tang J, Jiang X, Zoghbi HY. A weakened recurrent circuit in the hippocampus of Rett syndrome mice disrupts long-term memory representations. Neuron. 2022.

Successful recall of a contextual memory requires reactivating ensembles of hippocampal cells that were allocated during memory formation. Altering the ratio of excitation-to-inhibition (E/I) during memory retrieval can bias cell participation in an ensemble and hinder memory recall. In the case of Rett syndrome (RTT), a neurological disorder with severe learning and memory deficits, the E/I balance is altered, but the source of this imbalance is unknown. Using in vivo imaging during an associative memory task, we show that during long-term memory retrieval, RTT CA1 cells poorly distinguish mnemonic context and form larger ensembles than wild-type mouse cells. Simultaneous multiple whole-cell recordings revealed that mutant somatostatin expressing interneurons (SOM) are poorly recruited by CA1 pyramidal cells and are less active during long-term memory retrieval in vivo. Chemogenetic manipulation revealed that reduced SOM activity underlies poor long-term memory recall. Our findings reveal a disrupted recurrent CA1 circuit contributing to RTT memory impairment.

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5. Khamoui AV, Tokmina-Roszyk D, Feresin RG, Fields GB, Visavadiya NP. Skeletal muscle proteome expression differentiates severity of cancer cachexia in mice and identifies loss of fragile X mental retardation syndrome-related protein 1. Proteomics. 2022: e2100157.

Tandem mass tag (TMT)-based quantitative proteomics was used to examine protein expression in skeletal muscle from mice with moderate and severe cancer cachexia to study mechanisms underlying varied cachexia severity. Weight loss of 10% (moderate) and 20% (severe) was induced by injection of colon-26 cancer cells in 10-week old Balb/c mice. In moderate cachexia, enriched pathways reflected fibrin formation, integrin/mitogen-activated protein kinase (MAPK) signaling, and innate immune system, suggesting an acute phase response and fibrosis. These pathways remained enriched in severe cachexia; however, energy-yielding pathways housed in mitochondria were prominent additions to the severe state. These enrichments suggest distinct muscle proteome expression patterns that differentiate cachexia severity. When analyzed with two other mouse models, eight differentially expressed targets were shared including serine protease inhibitor A3N (Serpina3n), synaptophysin-like protein 2 (Sypl2), Isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial (Idh3a), peroxisomal acyl-coenzyme A oxidase 1 (Acox1), collagen alpha-1(VI) chain (Col6a1), myozenin 3 (Myoz3), UDP-glucose pyrophosphorylase (Ugp2), and solute carrier family 41 member 3 (Slc41a3). Acox1 and Idh3a control lipid oxidation and NADH generation in the TCA cycle, respectively, and Col6a1 comprises part of type VI collagen with reported profibrotic functions, suggesting influential roles in cachexia. A potential target was identified in fragile X mental retardation syndrome-related protein 1 (FXR1), an RNA-binding protein not previously implicated in cancer cachexia. FXR1 decreased in cachexia and related linearly with weight change and myofiber size. These findings suggest distinct mechanisms associated with cachexia severity and potential biomarkers and therapeutic targets.

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6. Lai YYL, Downs JA, Wong K, Zafar S, Walsh LJ, Leonard HM. Enablers and barriers in dental attendance in Rett syndrome: an international observational study. Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry. 2022.

AIMS: Intellectual and developmental disabilities are heterogeneous in aetiology and presentation, and one cannot make assumptions about the oral health barriers of those with Rett syndrome (RTT) based on findings from generic studies. This study investigated caregivers’ perceptions regarding access to dental care for those with (RTT), and associations of dental treatments received by those with RTT with their caregivers’ perceived value of oral health and perception of their own as well as their daughter’s dental anxiety. METHODS AND RESULTS: Retrospective observational data of a subset of individuals with confirmed MECP2 mutations in the InterRett database (n = 216) were used to explore caregiver-related factors and their relationships with longitudinal data on dental service utilisation, using negative binomial regression. The main reported barriers to dental care access for individuals with RTT were primarily dentist-related in nature, regardless of dental service history. Those with reported dental nonattendance were of older age. Increasing levels of caregiver-reported dental fear were associated with less frequent dental check-ups or for any appointments for affected individuals. CONCLUSIONS: Dentist-related barriers and caregiver-reported anxiety may both adversely affect dental attendance for those with RTT. Future research should explore caregivers’ beliefs and oral health literacy.

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7. Lamothe H, Godin O, Stengel C, Benmansour S, Burckard S, Brouillet ZJ, Petrucci J, Weil D, Lejuste F, Leboyer M. Clinical characteristics of adults suffering from high-functioning autism and comorbid obsessive-compulsive disorder. Psychiatry research. 2022; 311: 114498.

Autism spectrum disorder (ASD) is a very heterogeneous disorder. Obsessive compulsive disorder (OCD) comorbidity, frequent in ASD, could be useful to define a specific ASD subtype. Our objective was to explore if adults with ASD and comorbid OCD could present a specific clinical profile of ASD in 89 high functioning-adult ASD patients. We found that adults with ASD and comorbid OCD showed a lower verbal IQ and a more severe impairments in social cognition. ASD with comorbid OCD present a specific clinical profile which could constitute a possible subtype of ASD.

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8. Lee GT, Tang Y, Xu S. Improving Eye Contact and Gaze Following in Children with Autism Spectrum Disorder: Systematic Withdrawal of Stimulus Prompts and Tangible Reinforcers. Behavior modification. 2022: 1454455211073741.

The purpose of this study was to investigate the effects of a procedure involving systematic withdrawal of stimulus prompts and tangible reinforcers on the acquisition, maintenance, and generalization of eye contact and gaze following for two children with ASD in China. Two boys with ASD (5-6 years of age) participated. A concurrent multiple probe design across behaviors and participants was used. Results indicate that the procedure effectively established eye contact and gaze following for both children. Generalization to new instructors occurred in the free play setting, and the acquired behaviors were maintained for 1 month following training. Eye contact was maintained with social consequences for one child; the other child required tokens along with social consequences to maintain eye contact. Social consequences were sufficient to maintain gaze following for both children.

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9. Mason AH, Pickett KA, Padilla AS, Travers BG. Combined Gait and Grasping in Autistic and Non-Autistic Youths. Developmental neurorehabilitation. 2022: 1-10.

This study was designed to extend research on motor skill development in autism spectrum disorder using a dual-task skill. Nine autistic and 18 non-autistic youths walked without grasping or while reaching to grasp a small or large object. Step extremity ratio, percent time in double support, and normalized speed were quantified. We hypothesized that gait would differ between autistic and non-autistic youth and that differences would be moderated by the phase (approach and grasp) and the complexity of the task (walking and grasping versus walking alone). Although gait parameters were similar during the walking-only trials, the combined task resulted in slower speed and shorter steps in autistic youth, particularly during the grasp phase. These findings, while in a small sample, offer preliminary evidence that autistic youth who show typical gait during simple assessments of motor ability may have difficulties in more complex tasks that require the coordination of movements.

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10. O’Halloran L, Coey P, Wilson C. Suicidality in autistic youth: A systematic review and meta-analysis. Clinical psychology review. 2022; 93: 102144.

Suicidality in autistic youth is a major public health issue. This study aimed to determine global prevalence of, and risk/protective factors for suicidality in autistic youth via systematic review and meta-analysis. We systematically searched Embase, PubMed, PsycINFO, Web of Science, and the Cochrane library for studies from inception to November 22nd, 2021. We selected empirical studies reporting on suicide outcomes (i.e., ideation, behaviors, attempts and deaths) in autistic youth (≤25 years). Random effects models were used to estimate the pooled prevalence of suicide outcomes with 95% confidence interval (CI). Heterogeneity was investigated with potential moderators using meta-regression analyses. The final selection included 47 papers, 29 of which were included in meta-analyses and 37 were narratively synthesized (sociodemographic, psychiatric, psychological, other factors, and interventions). The pooled prevalence of suicidal ideation was 25.2% (95% CI 18.2-33.8; i.e., one in four), suicide attempts 8.3% (3.6-18.2), and suicide deaths 0.2% (0.05-0.52). Estimates in self-reports were higher than in parent-reports. Age was a significant but inconsistent moderator on suicide outcomes, but substantial heterogeneity remained. Adverse childhood experiences were strong risk factors for suicidality, while resilience was protective. Participatory suicide risk-assessment, early intervention, and resilience promotion should be primary clinical/research goals.

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11. Retamal-Walter F, Waite M, Scarinci N. Exploring engagement in telepractice early intervention for young children with developmental disability and their families: a qualitative systematic review. Disability and rehabilitation Assistive technology. 2022: 1-14.

PURPOSE: This review aimed to (1) describe the nature of engagement in telepractice early intervention (EI) for families of young children with developmental disabilities; and (2) identify major barriers and facilitators for developing and maintaining engagement via telepractice. METHODS: A qualitative systematic review was conducted, searching systematically across six databases (i.e., PUBMED, CINAHL, PsycINFO, Web of Science, EMBASE, and Scopus). The search identified 14 studies which met the inclusion criteria of peer-reviewed studies exploring EI professionals’, families’, managers’, or service’s views of engagement in telepractice EI using qualitative methodologies. The studies were appraised using the Critical Appraisal Skills Programme and data were analysed using thematic synthesis. RESULTS: The synthesised data were grouped into four main themes reflecting the nuances of engagement in telepractice EI: (1) children and family engagement is facilitated and enhanced during telepractice interaction; (2) engagement may enhance therapy outcomes through telepractice multidisciplinary collaboration and communication; (3) there are challenges to engagement in the telepractice environment; and (4) preparation in telepractice can improve the development of engagement. CONCLUSION: This review provides a comprehensive characterisation of engagement and describes a set of conceptual recommendations for establishing and maintaining engagement when using telepractice in EI.IMPLICATIONS FOR REHABILITATIONBuilding and maintaining engagement with families of young children with developmental disability/delay through telepractice is feasible.Despite some similarities between in-person and telepractice engagement, there are certain unique features of telepractice engagement that professionals and families may need to consider while providing/receiving early intervention services remotely.Preparation and training on how to engage in telepractice is recommended for professionals and families of young children with developmental disability/delay.Understanding how professionals and families engage with one another during telepractice interactions may improve targeted child and family intervention outcomes.

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12. Skerswetat J, Bex PJ, Baron-Cohen S. Visual consciousness dynamics in adults with and without autism. Scientific reports. 2022; 12(1): 4376.

Sensory differences between autism and neuro-typical populations are well-documented and have often been explained by either weak-central-coherence or excitation/inhibition-imbalance cortical theories. We tested these theories with perceptual multi-stability paradigms in which dissimilar images presented to each eye generate dynamic cyclopean percepts based on ongoing cortical grouping and suppression processes. We studied perceptual multi-stability with Interocular Grouping (IOG), which requires the simultaneous integration and suppression of image fragments from both eyes, and Conventional Binocular Rivalry (CBR), which only requires global suppression of either eye, in 17 autistic adults and 18 neurotypical participants. We used a Hidden-Markov-Model as tool to analyze the multistable dynamics of these processes. Overall, the dynamics of multi-stable perception were slower (i.e. there were longer durations and fewer transitions among perceptual states) in the autistic group compared to the neurotypical group for both IOG and CBR. The weighted Markovian transition distributions revealed key differences between both groups and paradigms. The results indicate overall lower levels of suppression and decreased levels of grouping in autistic than neurotypical participants, consistent with elements of excitation/inhibition imbalance and weak-central-coherence theories.

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13. Slavny-Cross R, Allison C, Griffiths S, Baron-Cohen S. Autism and the criminal justice system: An analysis of 93 cases. Autism research : official journal of the International Society for Autism Research. 2022.

We investigate whether autistic people’s vulnerability is taken into account at each stage of the criminal justice system (CJS). Defense lawyers from 12 nations were included in the study although the sample was predominantly from the UK. Lawyers completed an online survey regarding one case in which they had defended an autistic client between January 2015 and January 2020; and on one case in which they had defended a nonautistic client charged with a similar offense, to provide a comparison group. Ninety-three lawyers (85% in the UK) reported on one autistic case, and 53 also reported on one nonautistic case. 75% of autistic clients were not given reasonable adjustments during the process. Only 43% were offered an appropriate adult during police investigations, even though they had an existing diagnosis of autism. 59% of prosecution barristers and 46% of judges said or did something during the trial that made the lawyers concerned that they did not have an adequate understanding of autism. Lawyers were 7.58 times more likely to be concerned about their autistic client’s effective participation in court and were 3.83 times more likely to be concerned that their autistic clients would engage in self-harm, compared with their nonautistic clients. There is a failure to identify and address autistic peoples’ disability within the CJS. There is a need for mandatory autism training for police officers and the judiciary, with a focus on identifying autism and understanding the needs of autistic people so that reasonable adjustments are offered in all cases. LAY SUMMARY: This study sought to investigate if the needs of autistic people are being overlooked by the police and other professionals within the CJS. Results show that autistic people are not always given the support they need during police questioning or in court. The experience of being involved with the police may also have a more negative impact on autistic peoples’ mental health than that of nonautistic people.

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14. Song W, Salzer MS, Nonnemacher SL, Miller KK, Shea LL. Living arrangements and community participation among autistic adults: Exploring the possible influences of living alone or with others. Research in developmental disabilities. 2022; 124: 104213.

BACKGROUND: With the increasing prevalence of autistic individuals, it is greatly needed to examine the factors impacting their community participation experiences. Where autistic adults live and how that may be related to their participation and quality of life is one environmental factor that has received little attention. AIMS: This study explored the association between living arrangements in the community and community participation for autistic adults. METHOD: This study used data from a statewide survey of autistic adults (N = 744) to investigate the relationship between living arrangements (live alone with or without support, live with roommate/spouse, or live with family) and the amount, breadth, and sufficiency of community participation. RESULTS: After controlling for sociodemographic and clinical factors known to be associated with community participation, autistic adults living with family members participated less frequently in community activities over 30 days than those living with a roommate/spouse. However, they experienced similar levels of sufficiency with their participation. Autistic adults living alone with support reported the lowest levels of sufficiency with their participation, although the amount and breadth of their participation were no different from other adults. CONCLUSION: These findings have several implications for providing support to enable autistic adults to participate in the areas that are important to them and to the extent they desire. Future research is needed to gain a better understanding of how interests and expectations for participation may be influenced by living situations.

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15. Tang Y, Yang Y, Chen L, Liu X, Deng S, Dai Y, Fan Y, Li F, Cui L. Association of Prosocial Behavior Between Mothers and Their Child with Autism Spectrum Disorder: The Mediating Role of Maternal Parenting. Journal of autism and developmental disorders. 2022.

The relationship between maternal parenting and the prosocial behavior of a child with autism spectrum disorder (ASD) was tested cross-sectionally (Study 1) and longitudinally (Study 2). In Study 1, maternal prosocial behavior was moderately associated with child behavior, and maternal positive parenting completely mediated this relationship. In Study 2, we found that the association between guidance (T1) and maternal prosocial behavior (T2) was significant, as were the longitudinal and mutual associations between high control and child prosocial behavior. However, a mediating effect of any component of parenting was not found in the longitudinal data. These results suggest an important role for maternal parenting in the development of prosocial behavior in children with ASD.

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16. Tofani M, Scarcella L, Galeoto G, Giovannone F, Sogos C. Behavioral gender differences across Pre-School Children with Autism Spectrum Disorders: a cross-sectional study. Journal of autism and developmental disorders. 2022.

There is increasing literature showing that the presentation of Autism Spectrum Disorder (ASD) could be different according to the sex of the patient. Through the analysis of the Autism Diagnostic Interview Revised interview results of a study group consisting of 56 preschool children diagnosed with ASD potential differences in the presentation of ASD were searched. Variables investigated were verbal abilities, the presence/absence of unusual sensory interests, as well as of echolalia. The results showed significant differences between gender in restricted and repetitive behavior (p < 0.01), in particular for those children who have no unusual sensory interest (p < 0.05) and with minimal verbal ability (p < 0.05). The findings contribute providing evidences on phenotypical differences in preschool children with a diagnosis of Autism Spectrum Disorder.

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17. Yang H, Wang Y, Xiang Y, Yadav T, Ouyang J, Phoon L, Zhu X, Shi Y, Zou L, Lan L. FMRP promotes transcription-coupled homologous recombination via facilitating TET1-mediated m5C RNA modification demethylation. Proceedings of the National Academy of Sciences of the United States of America. 2022; 119(12): e2116251119.

SignificanceThis study shows that Fragile X mental retardation protein (FMRP) promotes messenger RNA (mRNA)-dependent recombination via facilitating ten-eleven translocation protein 1 (TET1)-mediated mRNA methyl-5-cytosine (m5C) demethylation. Loss of FMRP leads to damage induced mRNA m5C and R-loop accumulation at sites of active transcription, defective recombination repair, and increased radiosensitivity of tumor cells. FMRP-dependent RNA m5C demethylation and R-loop resolving during DNA repair are important for repair completion and the maintenance of genome stability. The removal of m5C by the FMRP-TET1 axis is coupled with R-loop dissolution, which ensures proper completion of DNA repair and survival of cells after DNA damage. These findings significantly advance our understanding of the regulation of RNA modifications in R-loop dynamics during DNA repair.

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