1. Audunsdottir K, Sartorius AM, Kang H, Glaser BD, Boen R, Nærland T, Alaerts K, Kildal ESM, Westlye LT, Andreassen OA, Quintana DS. The effects of oxytocin administration on social and routinized behaviors in autism: A preregistered systematic review and meta-analysis. Psychoneuroendocrinology. 2024; 167: 107067.

Oxytocin administration has demonstrated considerable promise for providing individualized support for autistic people. However, studies evaluating the effects of oxytocin administration on autistic characteristics have yielded inconsistent results. This systematic review and meta-analysis investigates the effect of oxytocin administration on social and routinized behaviors in autism using recently developed methods to accurately assess the potential impact of effect size dependency and publication bias. Our frequentist meta-analysis yielded a significant summary effect size estimate for the impact of oxytocin administration on social outcomes in autism (d = 0.22, p < 0.001). The summary effect size estimate for routinized behavior outcomes was not statistically significant (d = 0.14, p = 0.22), with a follow up test indicating that the effect size estimate was not either statistically equivalent (Z = -1.06, p = 0.2), assuming a smallest effect size of interest of 0.25. Frequentist and Bayesian assessments for publication bias, as well as results from Robust Bayesian meta-analysis of oxytocin effects on social outcomes in autism, indicated that summary effect sizes might be inflated due to publication bias. Future studies should aim to reduce bias by preregistering analysis plans and to increase precision with larger sample sizes.

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2. Balakrishnan S, Rachamadugu M, Das Bhowmik A, Bharadwaj KT. A new case of SUPT16H-associated syndromic neurodevelopmental delay. Clin Dysmorphol. 2024; 33(3): 110-3.

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3. Burrell A. Yonder: Repeat antibiotics, co-located drug services, autism diagnosis, and medical student lockdown motivation. Br J Gen Pract. 2024; 74(743): 273.

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4. Cervantes PE, Palinkas LA, Conlon GR, Richards-Rachlin S, Sullivan KA, Baroni A, Horwitz SM. Improving Emergency Department Care for Suicidality in Autism: Perspectives from Autistic Youth, Caregivers, and Clinicians. J Autism Dev Disord. 2024.

ABSTRACT: Purpose: Emergency department (ED) visits for suicidal ideation and self-harm are more prevalent in autistic than non-autistic youth. However, providers are typically offered insufficient guidance for addressing suicide risk in autistic youth, likely impacting confidence and care. METHODS: In this pilot study, we conducted semi-structured interviews with 17 key members of the autism community (i.e., autistic youth with a history of suicidality, caregivers of autistic youth with a history of suicidality, autism specialist clinicians, ED clinicians) to inform the development of recommendations for modifying ED care for autistic patients, with a focus on suicide risk screening and management. RESULTS: Participants reported on challenges they encountered receiving or providing care and/or recommendations for improving care. Participant perspectives were aligned, and four main categories emerged: accounting for autism features, connection and youth engagement in care, caregiver and family involvement, and service system issues. CONCLUSION: As research continues in the development of autism-specific suicide risk assessment tools and management strategies, it is essential we better equip providers to address suicide risk in autistic patients, particularly in ED settings.

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5. Cordone V. BIOCHEMICAL AND MOLECULAR DETERMINANTS OF THE SUBCLINICAL INFLAMMATORY MECHANISMS IN RETT SYNDROME. Arch Biochem Biophys. 2024: 110046.

To date, Rett syndrome (RTT), a genetic disorder mainly caused by mutations in the X-linked MECP2 gene, is increasingly considered a broad-spectrum pathology, instead of just a neurodevelopmental disease, due to the multitude of peripheral co-morbidities and the compromised metabolic pathways, affecting the patients. The altered molecular processes include an impaired mitochondrial function, a perturbed redox homeostasis, a chronic subclinical inflammation and an improper cholesterol metabolism. The persistent subclinical inflammatory condition was first defined ten years ago, as a previously unrecognized feature of RTT, playing a role in the pathology progress and modulation of phenotypical severity. In light of this, the present work aims at reviewing the current knowledge on the chronic inflammatory status and the altered immune/inflammatory functions in RTT, as well as investigating the emerging mechanisms underlying this condition with a special focus on the latest findings about inflammasome system, autoimmunity responses and intestinal micro- and mycobiota. On these bases, although further research is needed, future therapeutic strategies able to re-establish an adequate immune/inflammatory response could represent potential approaches for RTT patients.

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6. Gussin HA, Shiu CS, Danguilan C, Mihaila I, Acharya K, Berg KL. Impact of Adverse Childhood Experiences and Mental Health on School Success in Autistic Children: Findings from the 2016-2021 National Survey of Children’s Health. J Autism Dev Disord. 2024.

PURPOSE: School is an important developmental setting for children. Adverse childhood experiences (ACEs) are linked to overall lower educational attainment and are more prevalent in children with Autism Spectrum Disorder (ASD) than in their neurotypical peers. The aim of this study is to test the association between ACEs and school outcomes among autistic children and whether mental health conditions explain this association. METHODS: We combined 2016-2021 data from the National Surveys of Children’s Health for children, ages 6-17, identified by parents as having ASD (N = 4,997), to examine the relationship between ACEs and school outcomes (grade progression, school attendance, and engagement). We analyzed depression and anxiety variables to investigate the extent to which mental health can explain the relationships between ACEs and school outcomes. RESULTS: ACEs were significantly associated with school outcomes. With increased ACEs, autistic children experienced a significant decrease in the odds of school attendance, grade progression and school engagement (p < .05). Furthermore, although depression and anxiety symptoms were significantly associated with school outcomes, they cannot explain away the enduring, strong relationship between ACEs and level of grade progression, engagement, and school success index. CONCLUSION: Our findings suggest ACEs predict school success among autistic children, with mental health conditions appearing to mediate the relationship between ACEs and key factors in school success. Efforts should be made to proactively identify and address the impact of ACEs and associated mental health conditions among autistic students.

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7. Hisaizumi M, Tantam D. Enhanced sensitivity to pitch perception and its possible relation to language acquisition in autism. Autism Dev Lang Impair. 2024; 9: 23969415241248618.

BACKGROUND AND AIMS: Fascinations for or aversions to particular sounds are a familiar feature of autism, as is an ability to reproduce another person’s utterances, precisely copying the other person’s prosody as well as their words. Such observations seem to indicate not only that autistic people can pay close attention to what they hear, but also that they have the ability to perceive the finer details of auditory stimuli. This is consistent with the previously reported consensus that absolute pitch is more common in autistic individuals than in neurotypicals. We take this to suggest that autistic people have perception that allows them to pay attention to fine details. It is important to establish whether or not this is so as autism is often presented as a deficit rather than a difference. We therefore undertook a narrative literature review of studies of auditory perception, in autistic and nonautistic individuals, focussing on any differences in processing linguistic and nonlinguistic sounds. MAIN CONTRIBUTIONS: We find persuasive evidence that nonlinguistic auditory perception in autistic children differs from that of nonautistic children. This is supported by the additional finding of a higher prevalence of absolute pitch and enhanced pitch discriminating abilities in autistic children compared to neurotypical children. Such abilities appear to stem from atypical perception, which is biased toward local-level information necessary for processing pitch and other prosodic features. Enhanced pitch discriminating abilities tend to be found in autistic individuals with a history of language delay, suggesting possible reciprocity. Research on various aspects of language development in autism also supports the hypothesis that atypical pitch perception may be accountable for observed differences in language development in autism. CONCLUSIONS: The results of our review of previously published studies are consistent with the hypothesis that auditory perception, and particularly pitch perception, in autism are different from the norm but not always impaired. Detail-oriented pitch perception may be an advantage given the right environment. We speculate that unusually heightened sensitivity to pitch differences may be at the cost of the normal development of the perception of the sounds that contribute most to early language development. IMPLICATIONS: The acquisition of speech and language may be a process that normally involves an enhanced perception of speech sounds at the expense of the processing of nonlinguistic sounds, but autistic children may not give speech sounds this same priority.

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8. Jones D, Taylor HL. State-level variation in Medicaid dental coverage for services beneficial to adults with intellectual and developmental disabilities. J Am Dent Assoc. 2024.

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9. Karagöz H, Akça Ö F, Yıldırım MS, Zamani AG, Oflaz MB. Comparison of MicroRNA Levels of 18-60-month-old Autistic Children with Those of Their Siblings and Controls. Clin Psychopharmacol Neurosci. 2024; 22(2): 322-32.

OBJECTIVE: The present study aims to compare the levels of 7 microRNAs (mi-RNAs) (mi-RNA-125b, mi-RNA-23a-3p, mi-RNA-146a-5p, mi-RNA-106a, mi-RNA-151a-3p, mi-RNA-28, mi-RNA-125a) in the blood of the preschool children with autism and those of their siblings with healthy controls, and to investigate the association between these mi-RNAs and the severity of autism, behavioral problems, and siblings’ autistic traits. METHODS: A total of 35 children diagnosed with autism spectrum disorder (ASD) at the ages of 18-60 months (patient group), 35 non-affected siblings of the ASD group (sibling group), and 30 control subjects (control group) were involved in the study. The severity of ASD was measured using the Childhood Autism Rating Scale and the Autism Behavior Checklist (ABC). The behavioral problems of the children with ASD were assessed with the Aberrant Behavior Checklist, and the autistic traits of the siblings were assessed using the Autism spectrum screening scale for children. RESULTS: mi-RNA-106a-5p, mi-RNA-151a-3p, and mi-RNA-28-3p were found to be expressed significantly lower in the patient group compared to the control group. There was a significant positive correlation between mi-RNA-23a and the sensory subscale of the ABC. mi-RNA-151a was significantly associated with sound sensitivity and mi-RNA-28 with echolalia. After controlling for age and sex, the differences between groups were disappeared. CONCLUSION: The present study examined mi-RNAs that have been reported as biomarkers in the literature. Although several symptom clusters are found to be related to certain mi-RNA expression levels, they were not found to be significant in discriminating the patient and healthy groups.

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10. Lee V, Vashi N, Roudbarani F, Modica PT, Pouyandeh A, Sellitto T, Ibrahim A, Ameis SH, Elkader A, Gray KM, Kerns CM, Lai MC, Lake J, Thomson K, Weiss JA. Utility of a virtual small group cognitive behaviour program for autistic children during the pandemic: evidence from a community-based implementation study. BMC Health Serv Res. 2024; 24(1): 685.

BACKGROUND: Autistic children often experience socioemotional difficulties relating to emotion regulation and mental health problems. Supports for autistic children involve the use of adapted interventions that target emotion regulation and social skills, alongside mental health symptoms. The Secret Agent Society Small Group (SAS: SG), an adapted cognitive behavioural program, has demonstrated efficacy through lab-delivered randomized control trials. However, research is still needed on its effectiveness when delivered by publicly funded, community-based autism providers under real-world ecologically valid conditions, especially within the context of a pandemic. The COVID-19 pandemic has disrupted access to community-based supports and services for autistic children, and programs have adapted their services to online platforms. However, questions remain about the feasibility and clinical utility of evidence-based interventions and services delivered virtually in community-based settings. METHODS: The 9-week SAS: SG program was delivered virtually by seven community-based autism service providers during 2020-2021. The program included the use of computer-based games, role-playing tasks, and home missions. Caregivers completed surveys at three timepoints: pre-, post-intervention, and after a 3-month follow-up session. Surveys assessed caregivers’ perception of the program’s acceptability and level of satisfaction, as well as their child’s social and emotional regulation skills and related mental health challenges. RESULTS: A total of 77 caregivers (94% gender identity females; Mean = 42.1 years, SD = 6.5 years) and their children (79% gender identity males; Mean = 9.9 years, SD = 1.3 years) completed the SAS: SG program. Caregivers agreed that the program was acceptable (95%) and were highly satisfied (90%). Caregivers reported significant reduction in their child’s emotion reactivity from pre- to post-intervention (-1.78 (95% CI, -3.20 to -0.29), p = 0.01, d = 0.36), that continued to decrease after the 3-month booster session (-1.75 (95% CI, -3.34 to -0.16), p = 0.02, d = 0.33). Similarly, improvements in anxiety symptoms were observed (3.05 (95% CI, 0.72 to 5.36), p = 0.006, d = 0.39). CONCLUSIONS: As online delivery of interventions for autistic children remains popular past the pandemic, our findings shed light on future considerations for community-based services, including therapists and agency leaders, on how best to tailor and optimally deliver virtually based programming. TRIAL REGISTRATION: This study has been registered with ISRCTN Registry (ISRCTN98068608) on 15/09/2023. The study was retroactively registered.

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11. Liu R, Pedapati EV, Schmitt LM, Shaffer RC, Smith EG, Dominick KC, DeStefano LA, Westerkamp G, Horn P, Sweeney JA, Erickson CA. Reliability of resting-state electrophysiology in fragile X syndrome. Biomark Neuropsychiatry. 2023; 9.

OBJECTIVE: Fragile X Syndrome (FXS) is the leading monogenic cause of intellectual disability and autism spectrum disorder. Currently, there are no established biomarkers for predicting and monitoring drug effects in FXS, and no approved therapies are available. Previous studies have shown electrophysiological changes in the brain using electroencephalography (EEG) in individuals with FXS and animal models. These changes may be influenced by drug therapies. In this study, we aimed to assess the reliability of resting-state EEG measures in individuals with FXS, which could potentially serve as a biomarker for drug discovery. METHODS: We collected resting-state EEG data from 35 individuals with FXS participating in placebo-controlled clinical trials (23 males, 12 females; visit age mean+/-std 25.6 +/-8.3). The data were analyzed for various spectral features using intraclass correlation analysis to evaluate test-retest reliability. The intervals between EEG recordings ranged from same-day measurements to up to six weeks apart. RESULTS: Our results showed high reliability for most spectral features, with same-day reliability exceeding 0.8. Features of interest demonstrated ICC values of 0.60 or above at longer intervals. Among the features, alpha band relative power exhibited the highest reliability. CONCLUSION: These findings indicate that resting-state EEG can provide consistent and reproducible measures of brain activity in individuals with FXS. This supports the potential use of EEG as an objective biomarker for evaluating the effects of new drugs in FXS. SIGNIFICANCE: The reliable measurements obtained from power spectrum-based resting-state EEG make it a promising tool for assessing the impact of small molecule drugs in FXS.

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12. Luo T, Zhang M, Li S, Situ M, Liu P, Wang M, Tao Y, Zhao S, Wang Z, Yang Y, Huang Y. Exome functional risk score and brain connectivity can predict social adaptability outcome of children with autism spectrum disorder in 4 years’ follow up. Front Psychiatry. 2024; 15: 1384134.

INTRODUCTION: Autism Spectrum Disorder (ASD) is a common neurodevelopmental disorder emerging in early childhood, with heterogeneous clinical outcomes across individuals. This study aims to recognize neuroimaging genetic factors associated with outcomes of ASD after a 4-year follow-up. METHODS: A total of 104 ASD children were included in this study; they underwent clinical assessments, MRI data acquisition, and the whole exome sequencing (WES). Exome functional risk score (EFRS) was calculated based on WES; and two modalities of brain connectivity were constructed based on MRI data, that is functional connectivity (FC) for functional MRI (fMRI), and individual differential structural covariance network (IDSCN) for structural MRI (sMRI), to explore the neuroimaging genetic biomarker of outcomes of ASD children. RESULTS: Regression analysis found EFRS predicts social adaptability at the 4-year follow-up (Y = -0.013X + 9.29, p = 0.003). We identified 19 pairs of FC associated with autism symptoms severity at follow-up, 10 pairs of FC and 4 pairs of IDSCN associated with social adaptability at follow-up, and 10 pairs of FC associated with ASD EFRS by support vector regression (SVR). Related brain regions with prognostic predictive effects are mainly distributed in superior frontal gyrus, occipital cortex, temporal cortex, parietal cortex, paracentral lobule, pallidum, and amygdala for FC, and temporal cortex, thalamus, and hippocampus for IDSCN. Mediation model showed that ASD EFRS affects the social communication of ASD children through the mediation of FC between left middle occipital gyrus and left pallidum (RMSEA=0.126, CMIN=80.66, DF=42, p< 0.001, CFI=0.867, AIC=152). DISCUSSION: Our findings underscore that both EFRS and brain connectivity can predict social adaptability, and that brain connectivity serving as mediator in the relationship of EFRS and behaviors of ASD, suggesting the intervention targets in the future clinical application.

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13. Mata-Iturralde S, Alonso-Esteban Y, Alcantud-Marín F, Young R. Autism Detection in Early Childhood (ADEC) in a Low-Income Spanish-Speaking Population in Guayaquil (Ecuador). J Autism Dev Disord. 2024.

Autism Spectrum Disorder (ASD) must be present early in development, but may not fully manifest until social demands exceed capacities. In the absence of adequate biological or brain imaging markers to detect and diagnose autism, diagnosis relies on clinical judgment based on observation of symptoms. Many tools have been developed in English-speaking countries (questionnaires for parents, symptom checklists for professionals, observation systems, etc.). Screening in countries with other languages requires cultural and linguistic adaptation of these instruments. This paper presents the adaptation of the ADEC (Autism Detection in Early Childhood). METHODS: The original version of the ADEC was translated and culturally and linguistically adapted to the characteristics of the population of Guayaquil (Ecuador). PARTICIPANTS: A pilot study was conducted with a sample of 613 children aged 18-48 months. RESULTS: Cronbach’s alpha values (0.89) indicate high internal consistency. The correlation between the MCHAT-R/F follow-up interview and the ADEC (mean r = 0.93) indicates high construct validity. In terms of predictive validity, using the original cut-off points of the ADEC, they show excellent diagnostic ability. The sensitivity and specificity results (sensitivity 1.00; specificity 0.92; positive predictive value 0.83; negative predictive value 0.99) are even better than those obtained in a similar study in the Mexican population. CONCLUSIONS: Considering that the MCHAT R/F is a parent-reported instrument, the Guayaquil Spanish version of the ADEC (ADEC-GU) seems to be a suitable instrument to be used in a complementary way as a second-level screening instrument for autism, before resorting to a full diagnostic process.

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14. Oomen D, Wiersema JR, Orgs G, Cracco E. Top-down biological motion perception does not differ between adults scoring high versus low on autism traits. Biol Psychol. 2024; 190: 108820.

The perception of biological motion is an important social cognitive ability. Models of biological motion perception recognize two processes that contribute to the perception of biological motion: a bottom-up process that binds optic-flow patterns into a coherent percept of biological motion and a top-down process that binds sequences of body-posture ‘snapshots’ over time into a fluent percept of biological motion. The vast majority of studies on autism and biological motion perception have used point-light figure stimuli, which elicit biological motion perception predominantly via bottom-up processes. Here, we investigated whether autism is associated with deviances in the top-down processing of biological motion. For this, we tested a sample of adults scoring low vs high on autism traits on a recently validated EEG paradigm in which apparent biological motion is combined with frequency tagging (Cracco et al., 2022) to dissociate between two percepts: 1) the representation of individual body postures, and 2) their temporal integration into movements. In contrast to our hypothesis, we found no evidence for a diminished temporal body posture integration in the high-scoring group. We did, however, find a group difference that suggests that adults scoring high on autism traits have a visual processing style that focuses more on a single percept (i.e. either body postures or movements, contingent on saliency) compared to adults scoring low on autism traits who instead seemed to represent the two percepts included in the paradigm in a more balanced manner. Although unexpected, this finding aligns well with the autism literature on perceptual stability.

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15. Pereira MI, Laranjo M, Gomes M, Edfawy M, Peça J. Maternal behaviours disrupted by Gprasp2 deletion modulate neurodevelopmental trajectory in progeny. Sci Rep. 2024; 14(1): 12484.

Autism spectrum disorders (ASDs) are known to present sex-specific differences. At the same time, understanding how maternal behaviours are affected by pathogenic mutations is crucial to translate research efforts since rearing may recursively modulate neurodevelopment phenotype of the progeny. In this work, we focused on the effects of Gprasp2 deletion in females and its impact in progeny care and development. Female mice, wild-type (WT), Gprasp2(+/-) (HET) or Gprasp2(-/-) (KO) mutants and their progeny were used and behavioural paradigms targeting anxiety, memory, maternal care, and other social behaviours were performed. Analysis of communication was carried out through daily recordings of ultrasonic vocalizations in isolated pups and cross-fostering experiments were performed to understand the effect of maternal genotype in pup development. We found that Gprasp2(-/-) females presented striking impairments in social and working memory. Females also showed disruptions in maternal care, as well as physiological and molecular alterations in the reproductive system and hypothalamus, such as the structure of the mammary gland and the expression levels of oxytocin receptor (OxtR) in nulliparous versus primiparous females. We observed alterations in pup communication, particularly a reduced number of calls in Gprasp2 KO pups, which resulted from an interaction effect of the dam and pup genotype. Cross-fostering mutant pups with wild-type dams rescued some of the early defects shown in vocalizations, however, this effect was not bidirectional, as rearing WT pups with Gprasp2(-/-) dams was not sufficient to induce significant phenotypical alterations. Our results suggest Gprasp2 mutations perturb social and working memory in a sex-independent manner, but impact female-specific behaviours towards progeny care, female physiology, and gene expression. These changes in mutant dams contribute to a disruption in early stages of progeny development. More generally, our results highlight the need to better understand GxE interactions in the context of ASDs, when female behaviour may present a contributing factor in postnatal neurodevelopmental trajectory.

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16. Purpura G, Petri S, Tancredi R, Tinelli F, Calderoni S. Haptic and visuo-haptic impairments for object recognition in children with autism spectrum disorder: focus on the sensory and multisensory processing dysfunctions. Exp Brain Res. 2024.

Dysfunctions in sensory processing are widely described in individuals with autism spectrum disorder (ASD), although little is known about the developmental course and the impact of these difficulties on the learning processes during the preschool and school ages of ASD children. Specifically, as regards the interplay between visual and haptic information in ASD during developmental age, knowledge is very scarce and controversial. In this study, we investigated unimodal (visual and haptic) and cross-modal (visuo-haptic) processing skills aimed at object recognition through a behavioural paradigm already used in children with typical development (TD), with cerebral palsy and with peripheral visual impairments. Thirty-five children with ASD (age range: 5-11 years) and thirty-five age-matched and gender-matched typically developing peers were recruited. The procedure required participants to perform an object-recognition task relying on only the visual modality (black-and-white photographs), only the haptic modality (manipulation of real objects) and visuo-haptic transfer of these two types of information. Results are consistent with the idea that visuo-haptic transfer may be significantly worse in ASD children than in TD peers, leading to significant impairment in multisensory interactions for object recognition facilitation. Furthermore, ASD children tended to show a specific deficit in haptic information processing, while a similar trend of maturation of visual modality between the two groups is reported. This study adds to the current literature by suggesting that ASD differences in multisensory processes also regard visuo-haptic abilities necessary to identify and recognise objects of daily life.

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17. Salter J, Blainey S. The effectiveness of interventions for offending behaviours in adults with autism spectrum disorders (ASD): a systematic PRISMA review. BMC Psychol. 2024; 12(1): 316.

Previous research has suggested that the core features of autism spectrum disorders (ASD) may contribute to offending behaviours and increased vulnerability within the Criminal Justice System. To date, there is a paucity of evidence assessing the effectiveness of interventions for offending behaviour in adults with ASD but without co-occurring intellectual disability (ID) across a broad range of forensic settings. The lack of robust evidence is concerning, as limited effectiveness may contribute to an increased likelihood of prolonged incarceration, particularly in the most restrictive settings. A PRISMA systematic review was conducted with a narrative synthesis to: (a) evaluate the evidence of the effectiveness of interventions aimed at reducing recidivism, (b) assess whether the core features of ASD impact the effectiveness of these interventions, and (c) identify additional factors that may affect the effectiveness of interventions within this population. Seven studies involving ten male participants were identified. The findings suggest that interventions for offending behaviours in adults with ASD without intellectual disability (ID) are largely inadequate, and that core ASD features need to be considered. Additionally, a complex interplay of risk factors potentially impacting intervention effectiveness was suggested. Limitations include heterogeneity across intervention types, measures of effectiveness, and what constitutes effectiveness. Despite the limited number of studies and data quality, the review aligns with a growing body of literature highlighting vulnerability and a need for evidence-based interventions for people with ASD. The review also discusses the broader implications of ineffective interventions.

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18. Thanseem I, Banerjee M, Melempatt N, Prakash A, Iype M, Anitha A. Comprehensive Genetic Study of a Monozygotic Triplet Discordant for Autism Spectrum Disorder. Neurol India. 2024; 72(2): 384-7.

There are a few comprehensive genetic studies on autism spectrum disorders (ASD) in India. Children of multiple births are valuable for genomics studies of complex disorders such as ASD. We report whole-exome sequencing (WES) in a triplet family in which only one among the triplet has ASD. The objective of this study was to identify potential candidate genes for ASD. Exome DNA was enriched using a twist human customized core exome kit, and paired-end sequencing was performed. Proband-specific de novo variants included 150 single nucleotide polymorphisms (SNPs) and 74 indels. Thirteen SNPs were in exonic regions, 7 of them being missense variations. Seventeen variants were previously reported in ASD. Genes harboring variants have functions in the development and maintenance of the central nervous system and are enriched in biological processes involving cell adhesion. This is the first comprehensive genetic study of a monozygotic triplet in ASD.

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19. Thorp HH. Bridging two views of autism. Science. 2024; 384(6699): 939.

Last week, Science, Science Advances, and Science Translational Medicine published an extensive set of papers from the PsychENCODE Consortium, a multi-institutional collaboration whose aim is to study the genetics of neuropsychiatric disorders such as bipolar disorder, autism spectrum disorder, and schizophrenia. The papers, collectively called PsychENCODE2, apply advances in single-cell and multi-omic technologies to postmortem brain tissue to elucidate factors that may help explain and develop treatments for neuropsychiatric conditions. The new insights gained from these considerable data will hopefully inspire new ways in which the clinical community can find common ground with researchers, something that is not always guaranteed in the contentious mental health field.

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20. Urrea AL, Fernández-Torres V, Rodriguez-Ortiz IR, Saldaña D. The use of technology-assisted intervention in vocabulary learning for children with autism spectrum disorder: a systematic review. Front Psychol. 2024; 15: 1370965.

INTRODUCTION: Children with autism spectrum disorder may show delays in vocabulary development. Technology-based interventions could facilitate the teaching of different vocabulary skills; however, it is still not clear whether technology represents an added value. METHODS: The current review preregistered in PROSPERO evaluates the efficacy of technology-based interventions in vocabulary learning for children with autism spectrum disorder. We selected articles published in the period 2006-2022 from five databases. RESULTS: The results identified two group studies, one within subject design, nine single-case studies and one randomized controlled design in participants aged 0-16 years who had used technological devices to learn vocabulary. Overall, five of the 13 studies showed positive results of using technology-assisted intervention, six described mixed results, one described negative result, and one described no differences in technology-assisted intervention. The studies are divided into the categories of efficacy of technology and comparison between technology and non-technology. DISCUSSION: In summary, technology, such as tablets and computers, might be useful tools to improve vocabulary skills in certain children with ASD. However, the various degrees of impact found in the studies we reviewed indicate that personalized assessments, acknowledgment of previous experiences, and awareness of the context of usage are essential. The contrast with nontechnological approaches highlights the necessity for more detailed studies to pinpoint the precise conditions under which technology-based interventions can offer the most advantages. SYSTEMATIC REVIEW REGISTRATION: [https://clinicaltrials.gov/], identifier [CRD42021238758].

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