1. Ahmed EA, Alkhaldi SM, Alduraidi H, Albsoul RA, Alhamdan MZ. Quality of Life of Mothers and Fathers of Children with Autism Spectrum Disorder in Jordan. Clin Pract Epidemiol Ment Health;2023;19:e174501792304180.

BACKGROUND: Parenting children with autism spectrum disorder (ASD) is widely identified to be associated with life-long impairment in parents’ quality of life (QoL). However, there has been little information on the QoL of parents of children with ASD in the Jordanian context. OBJECTIVE: This study aimed to assess the QoL among mothers and fathers who have children with ASD in Jordan and to identify factors associated with it. METHODS: In this cross-sectional study, respondents were mothers and fathers of children with ASD attending autism rehabilitation centers in Amman. Data were collected from 206 participants using a validated questionnaire. Descriptive statistics, T-test, ANOVA and logistic regression, were applied. RESULTS: Overall quality of life was low (mean= 2.32). The physical dimension scored the highest (mean =2.79), and the environmental dimension scored the lowest (mean= 2.06). Results indicated that fathers and parents with low education reported significantly lower QoL scores (p = .024 and 0.001, respectively). CONCLUSION: Among parents of children with ASD, parents at risk for low QoL were recognized. Our results can be utilized to design interventions to support mothers and fathers at risk in Jordan to enhance their QoL.

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2. Firat S, Atik S, Herguner S. AUTISM SPECTRUM DISORDER AND SPECIFIC PHOBIA. TREATMENT WITH EYE MOVEMENT DESENSITIZATION AND REPROCESSING: REPORT OF TWO CASES. Psychiatr Danub;2023 (Fall);35(3):440-444.

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3. González León N, González-Olguín A. [Motor intervention strategies on postural control in children and youth with autism spectrum disorder: A systematic review]. Rehabilitacion (Madr);2023 (Oct 30);58(1):100820.

Autism spectrum disorder (ASD) has varied characteristics with an impact at the social, communicative and sensorimotor (SM) level. An SM feature is postural control (PC) problems. There are various motor intervention strategies (MIS), but the benefit over LC is something that has been analyzed less extensively. The objective was to describe the MIS and its results on the PC of children and adolescents with ASD. A search of PubMed, Scopus, Web of Science and Cochrane was performed. A total of eight articles met the eligibility criteria. All MIS showed beneficial results on the improvement of PC. The MIS were of a varied nature (dance practice, personalized physical activity, video games, Tai Chi Chuan, Taekwondo and virtual reality). It is necessary to improve the designs and consider the risks of bias, since they limit the scope of the results.

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4. Grant A, Griffiths C, Williams K, Brown A. « It felt like I had an old fashioned telephone ringing in my breasts »: An online survey of UK Autistic birthing parents’ experiences of infant feeding. Matern Child Nutr;2023 (Nov 1):e13581.

Around 3% of people are Autistic. Autistic people communicate differently from non-Autistic people and experience the sensory world differently. There is limited evidence that Autistic people can face additional barriers to breastfeeding. We are an Autistic-led research team that developed an online survey following consultation with the Autistic community. Autistic people from the UK who had been pregnant were eligible to take part in the survey, which focused on the entire maternity journey. A total of 193 people participated, of whom 152 had experiences of infant feeding (137 breastfeeding, 82 formula feeding). Participants were highly motivated to breastfeed, and almost half of those who breastfed found it positive always or most of the time. However, breastfeeding-and in particular the milk let-down reflex-could result in pain and sensory difficulties, including ‘feeling odd’. Expressing breastmilk always or most of the time was reported by 10% of breastfeeding participants. The intensity and unpredictability of both breast and formula feeding were challenging to manage. Parents reported that it was easy to understand how to prepare infant formula, but that it could also be a negative and anxiety-inducing experience. Support for breast and formula feeding was often considered inadequate. When parents did access breastfeeding support, this significantly improved a range of breastfeeding experiences. However, participants recommended more tailored support and continuity of carer. To meet the needs of Autistic birthing parents, those providing infant feeding support should receive training on Autism through a neurodiversity-affirming lens, which should be delivered by Autistic people.

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5. Kantawala B, Abu-Bakr A, Kasini B, Ndayambaje M, Ian Soh S, Nazir A, Wojtara M, Uwishema O. Exploring the landscape of autism in Africa: challenges in diagnosis, support, and resources – a short communication. Ann Med Surg (Lond);2023 (Nov);85(11):5838-5841.

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6. Krishnan-Barman S, Hakim U, Smith M, Tachtsidis I, Pinti P, Hamilton AFC. Brain mechanisms of social signalling in live social interactions with autistic and neurotypical adults. Sci Rep;2023 (Nov 1);13(1):18850.

The simple act of watching another person can change a person’s behaviour in subtle but important ways; the individual being watched is now capable of signalling to the watcher, and may use this opportunity to communicate to the watcher. Recent data shows that people will spontaneously imitate more when being watched. Here, we examine the neural and cognitive mechanisms of being watched during spontaneous social imitation in autistic and neurotypical adults using fNIRS brain imaging. Participants (n = 44) took part in a block-moving task where they were instructed only to copy the block sequence which people normally do using a straight low action trajectory. Here, the demonstrator sometimes used an atypical ‘high’ action trajectory, giving participants the opportunity to spontaneously copy the high trajectory even if this slowed their performance. The confederate who demonstrated each block sequence could watch the participant’s actions or close her eyes, giving a factorial design with factors of trajectory (high/low) and watched (watched/unwatched). Throughout the task, brain signals were captured from bilateral temporal/parietal/occipital cortex using fNIRS. We found that all participants performed higher actions when being watched by the confederate than when not being watched, with no differences between autistic and neurotypical participants. The unwatched conditions were associated with higher activity of the right inferior parietal lobule in all participants and also engagement of left STS only in autistic participants. These findings are consistent with the claim that people engage different neural mechanisms when watched and unwatched and that participants with autism may engage additional brain mechanisms to match neurotypical behaviour and compensate for social difficulties. However, further studies will be needed to replicate these results in a larger sample of participants.

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7. Lo T, Kushima I, Kimura H, Aleksic B, Okada T, Kato H, Inada T, Nawa Y, Torii Y, Yamamoto M, Kimura R, Funabiki Y, Kosaka H, Numata S, Kasai K, Sasaki T, Yokoyama S, Munesue T, Hashimoto R, Yasuda Y, Fujimoto M, Usami M, Itokawa M, Arai M, Ohi K, Someya T, Watanabe Y, Egawa J, Takahashi T, Suzuki M, Yamasue H, Iwata N, Ikeda M, Ozaki N. Association between copy number variations in parkin (PRKN) and schizophrenia and autism spectrum disorder: A case-control study. Neuropsychopharmacol Rep;2023 (Nov 1)

AIM: The present study aimed to examine the association between copy number variations (CNVs) in parkin (PRKN) and schizophrenia (SCZ) and autism spectrum disorder (ASD) in a large case-control sample. METHOD: Array comparative genomic hybridization was performed on 3111 cases with SCZ, 1236 cases with ASD, and 2713 controls. We systematically prioritized likely pathogenic CNVs (LP-CNVs) in PRKN and examined their association with SCZ and ASD. RESULTS: In total, 3014 SCZ cases (96.9%), 1205 ASD cases (97.5%), and 2671 controls (98.5%) passed quality control. We found that monoallelic carriers of LP-CNVs in PRKN were common (70/6890, 1.02%) and were not at higher risk of SCZ (p = 0.29) or ASD (p = 0.72). We observed that the distribution pattern of LP-CNVs in the Japanese population was consistent with those in other populations. We also identified a patient diagnosed with SCZ and early-onset Parkinson’s disease carrying biallelic pathogenic CNVs in PRKN. The absence of Parkinson’s symptoms in 10 other monoallelic carriers of the same pathogenic CNV further reflects the lack of effect of monoallelic pathogenic variants in PRKN in the absence of a second hit. CONCLUSION: The present findings suggest that monoallelic CNVs in PRKN do not confer a significant risk for SCZ or ASD. However, further studies to investigate the association between biallelic CNVs in PRKN and SCZ and ASD are warranted.

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8. Micai M, Fatta LM, Gila L, Caruso A, Salvitti T, Fulceri F, Ciaramella A, D’Amico R, Del Giovane C, Bertelli M, Romano G, Schünemann HJ, Scattoni ML. Prevalence of co-occurring conditions in children and adults with autism spectrum disorder: A systematic review and meta-analysis. Neurosci Biobehav Rev;2023 (Oct 31);155:105436.

This systematic review estimates the prevalence of co-occurring conditions (CCs) in children and adults with autism. A comprehensive search strategy consulting existing guidelines, diagnostic manuals, experts, carers, and autistic people was developed. PubMed and PsycInfo databases from inception to May 2022 were searched. PROSPERO registration: CRD42019132347. Two blind authors screened and extracted the data. Prevalence estimates for different CCs were summarized by using random effects models. Subgroup analyses were performed for age groups (children/adolescents vs adults) and study designs (population/registry-based vs clinical sample-based). Of 19,932 studies, 340 publications with about 590,000 participants were included and meta-analyzed to estimate the prevalence of 38-point prevalence, 27-lifetime, and 3 without distinction between point and lifetime prevalence. Point prevalence of developmental coordination disorder, sleep-wake problem, gastrointestinal problem, ADHD, anxiety disorder, overweight/obesity, feeding and eating disorder, elimination disorder, disruptive behavior, and somatic symptoms and related disorder were the most frequent CCs. Prevalence differed depending on the age group and study design. Knowing specific CCs linked to autism helps professional investigations and interventions for improved outcomes.

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9. Moshirian Farahi SMM, Leth-Steensen C. Individual differences in absolute identification as a function of autistic trait levels. Cogn Process;2023 (Nov 2)

The present study aimed to examine the links between a self-report measure known to be discriminative of autism (the AQ-10) and performance on the classic unidimensional absolute identification judgment task with 10 line lengths. The interest in this task is due to the fact that discriminating absolutely between such items is quite perceptually challenging and also that it is not very amenable to generalization. Importantly, there are two currently available views of perceptual learning in autism that suggest that those higher on the autism spectrum might have an advantage on this task. Results showed, however, that for N = 291 typically developing individuals, higher scores on the AQ-10 (and also on a measure of the degree to which individuals self-report having a more spontaneous, activist-type learning style) tended to relate to lower levels of accuracy on this task in contrast to what was expected. One explanation furthered for this result was that those with higher AQ-10 scores may have had more difficulties maintaining the overall stimulus context in memory. Such work adds greatly to knowledge of the nature of the individual differences that can affect performance on this particular task.

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10. Nakagami Y, Nishi M. MA-5 ameliorates autism-like behavior in mice prenatally exposed to valproic acid. Behav Pharmacol;2023 (Dec 1);34(8):488-493.

Indole-3-acetic acid is a common naturally occurring auxin in plants. A synthesized derivative of this compound, 4-(2,4-difluorophenyl)-2-(1H-indol-3-yl)-4-oxobutanoic acid also called mitochonic acid 5 (MA-5), has shown to increase the survival ratio of fibroblasts from patients with mitochondrial disease under stress-induced conditions. Further studies verified its efficacy in pathological models, such as an ischemia-reperfusion model, possibly by increasing ATP production. However, the efficacy of MA-5 in mental disorders, such as anxiety, schizophrenia, and autism spectrum disorders (ASD), has not been investigated. Our study focused on examining the effect of MA-5 in a mouse model of ASD induced by prenatal exposure to valproic acid (VPA). VPA exposure significantly deteriorated the level of anxiety and exploratory behavior in an open field test. We fed mice an MA-5-containing diet for 5 weeks and observed an improvement in the above behavior in the MA-5-fed groups. The efficacy of MA-5 was also observed in the elevated plus maze and three-chambered tests. These findings suggest that MA-5 could potentially be used to treat ASD, especially in patients with mitochondrial dysfunction.

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11. Richards JE, Guy MW, Hogan AL, Roberts JE. Neural correlates of face processing among preschoolers with fragile X syndrome, autism spectrum disorder, autism siblings, and typical development. Autism Res;2023 (Nov 2)

The current study examined patterns of event-related potential (ERP) responses during a face processing task in groups of preschoolers uniquely impacted by autism spectrum disorder (ASD), including (1) children with ASD; (2) children with fragile X syndrome (FXS); (3) children with familial risk for ASD, but without a diagnosis (i.e., ASIBs); and (4) a low-risk control (LRC) group. Children with FXS have a high incidence of ASD diagnoses, but there have been no studies of the ERP response to faces in children with FXS and little work focused on children with ASD who have cognitive impairment. The current study examined children’s ERP responses to faces and houses in four groups: LRC (N = 28, age = 5.2 years), ASIB (N = 23, age = 5.5 years), FXS (N = 19, age = 5.82 years), and ASD (N = 23, age = 5.5 years). The FXS and ASD groups were characterized by the presence of cognitive impairment. Pictures of upright and inverted faces and houses were presented while recording EEG with a 128-channel system. The N170 occurred at about 200 ms post stimulus onset, was largest on the posterior-lateral electrodes, and was larger for faces than houses. The P1 and N170 ERP components were larger for the FXS group than for the other three groups. The N170 ERP amplitude for the ASD and ASIB groups was smaller than both the LRC and FXS groups, and the LRC and FXS groups had the largest N170 responses on the right side. No difference was found in N170 latency between groups. The similarity of the ASD and ASIB responses suggest a common genetic or environmental origin of the reduced response. Although children with FXS have a high incidence of ASD outcomes, they differed from ASD and ASIB children in this study. Specifically, the children with FXS were hyperresponsive to all stimulus types while the ASD and ASIB groups showed attenuated responses for specific stimuli.

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12. Shil A, Levin L, Golan H, Meiri G, Michaelovski A, Sadaka Y, Aran A, Dinstein I, Menashe I. Comparison of three bioinformatics tools in the detection of ASD candidate variants from whole exome sequencing data. Sci Rep;2023 (Nov 1);13(1):18853.

Autism spectrum disorder (ASD) is a heterogenous multifactorial neurodevelopmental condition with a significant genetic susceptibility component. Thus, identifying genetic variations associated with ASD is a complex task. Whole-exome sequencing (WES) is an effective approach for detecting extremely rare protein-coding single-nucleotide variants (SNVs) and short insertions/deletions (INDELs). However, interpreting these variants’ functional and clinical consequences requires integrating multifaceted genomic information. We compared the concordance and effectiveness of three bioinformatics tools in detecting ASD candidate variants (SNVs and short INDELs) from WES data of 220 ASD family trios registered in the National Autism Database of Israel. We studied only rare (< 1% population frequency) proband-specific variants. According to the American College of Medical Genetics (ACMG) guidelines, the pathogenicity of variants was evaluated by the InterVar and TAPES tools. In addition, likely gene-disrupting (LGD) variants were detected based on an in-house bioinformatics tool, Psi-Variant, that integrates results from seven in-silico prediction tools. Overall, 372 variants in 311 genes distributed in 168 probands were detected by these tools. The overlap between the tools was 64.1, 22.9, and 23.1% for InterVar-TAPES, InterVar-Psi-Variant, and TAPES-Psi-Variant, respectively. The intersection between InterVar and Psi-Variant (I ∩ P) was the most effective approach in detecting variants in known ASD genes (PPV = 0.274; OR = 7.09, 95% CI = 3.92-12.22), while the union of InterVar and Psi Variant (I U P) achieved the highest diagnostic yield (20.5%).Our results suggest that integrating different variant interpretation approaches in detecting ASD candidate variants from WES data is superior to each approach alone. The inclusion of additional criteria could further improve the detection of ASD candidate variants.

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13. Teh SE, Vo LTV, Bal VH. Factors that Influence the Daily Living Skills of Autistic Adults: The Importance of Opportunity. J Autism Dev Disord;2023 (Nov 1)

While existing literature has demonstrated that Daily Living Skills (DLS) performance of autistic individuals is lower than what is expected of their age and cognitive abilities, limited studies have examined DLS in autistic adults. This study aimed to understand the influence of intellectual function (IQ) and contextual factors (i.e., provision of opportunities) on autistic individuals’ DLS performance. Participants included 33 autistic individuals ranging in age from 16 to 35 years. Their caregivers were administered the Vineland Adaptive Behavior Scales, 3rd edition’s (Vineland-3) caregiver interview form. A novel coding system was developed to capture the frequency of reasons for participants’ non-performance of DLS tasks, based on caregiver’s report. « Target » scores reflecting expected possible score if reasons for nonperformance could be addressed were computed. Qualitative analysis of parental responses indicated that, for adults with average or higher IQ, lack of opportunity to learn and/or implement the skill was the most frequent reason for not performing DLS. Lack of opportunity was also the second most common reason provided for adults with NVIQ below 85, following cognitive ability. Taking into account reasons for nonperformance, « Target » scores were, on average, 7.65 points higher for the NVIQ ≥ 85 group. These findings highlight a need for multi-dimensional assessment to go beyond individual strengths and difficulties to also include contextual factors that may influence adults’ skill acquisition and performance. It is essential that clinicians ensure that adequate opportunities for learning and performance are available to promote acquisition of important DLS.

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