1. Abd El-Raziq M, Meir N, Saiegh-Haddad E. Morphosyntactic skills in Arabic-speaking children with autism spectrum disorder: Evidence from error patterns in the sentence repetition task. Autism Dev Lang Impair;2024 (Jan-Dec);9:23969415241234649.

BACKGROUND AND AIMS: Although autism spectrum disorder (ASD) has not traditionally been associated with morphosyntactic impairments, some children with ASD manifest significant difficulties in this domain. Sentence Repetition (SRep) tasks are highly reliable tools for detecting morphosyntactic impairment in different languages and across various populations, including children with ASD. This study is among the first to evaluate morphosyntactic abilities of Palestinian-Arabic (PA) speaking children using a PA SRep task. METHODS: A total of 142 PA-speaking children, aged 5-11, participated in the study: 75 children with typical language development (TLD) and 67 children with ASD. The PA SRep task targeted morphosyntactic structures of varying complexity (simple subject-verb-object [SVO] sentences, biclausal sentences, wh-questions, relative clauses). Children’s accuracy scores were assessed across these structures and error patterns encompassing morphosyntactic and pragmatic aspects were analyzed. RESULTS: Two subgroups of ASD emerged: 43% showed age-appropriate language skills (ASD  +  NL) pairing up with TLD peers, while 57% showed signs of morphosyntactic impairment (ASD  +  LI). Children in both groups exhibited a higher frequency of morphosyntactic errors than pragmatic ones. Children with ASD  +  LI showed difficulties with producing complex morphosyntactic structures, such as relative clauses and object wh-questions. Error analysis revealed that children in the ASD  +  LI group produced sentence fragments and simplified constructions when complex structures were targeted. CONCLUSIONS: The current study extends the cross-linguistic evidence of the heterogeneity of morphosyntactic profiles in children with ASD to Arabic-speaking children. Error analysis indicates that poor morphosyntax, rather than pragmatics, challenges children’s performance on the SRep task. IMPLICATIONS: Our results emphasize the importance of comprehensive language assessment in children with ASD and underscore the need for tailored intervention plans targeting impaired morphosyntactic structures in some children with ASD.

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2. Cooper JN, Mittal J, Sangadi A, Klassen DL, King AM, Zalta M, Mittal R, Eshraghi AA. Landscape of NRXN1 Gene Variants in Phenotypic Manifestations of Autism Spectrum Disorder: A Systematic Review. J Clin Med;2024 (Apr 2);13(7)

Background: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by social communication challenges and repetitive behaviors. Recent research has increasingly focused on the genetic underpinnings of ASD, with the Neurexin 1 (NRXN1) gene emerging as a key player. This comprehensive systematic review elucidates the contribution of NRXN1 gene variants in the pathophysiology of ASD. Methods: The protocol for this systematic review was designed a priori and was registered in the PROSPERO database (CRD42023450418). A risk of bias analysis was conducted using the Joanna Briggs Institute (JBI) critical appraisal tool. We examined various studies that link NRXN1 gene disruptions with ASD, discussing both the genotypic variability and the resulting phenotypic expressions. Results: Within this review, there was marked heterogeneity observed in ASD genotypic and phenotypic manifestations among individuals with NRXN1 mutations. The presence of NRXN1 mutations in this population emphasizes the gene’s role in synaptic function and neural connectivity. Conclusion: This review not only highlights the role of NRXN1 in the pathophysiology of ASD but also highlights the need for further research to unravel the complex genetic underpinnings of the disorder. A better knowledge about the multifaceted role of NRXN1 in ASD can provide crucial insights into the neurobiological foundations of autism and pave the way for novel therapeutic strategies.

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3. Dutta N, Chatterjee M, Saha S, Sinha S, Mukhopadhyay K. Metabotropic glutamate receptor genetic variants and peripheral receptor expression affects trait scores of autistic probands. Sci Rep;2024 (Apr 12);14(1):8558.

Glutamate (Glu) is important for memory and learning. Hence, Glu imbalance is speculated to affect autism spectrum disorder (ASD) pathophysiology. The action of Glu is mediated through receptors and we analyzed four metabotropic Glu receptors (mGluR/GRM) in Indo-Caucasoid families with ASD probands and controls. The trait scores of the ASD probands were assessed using the Childhood Autism Rating Scale2-ST. Peripheral blood was collected, genomic DNA isolated, and GRM5 rs905646, GRM6 rs762724 & rs2067011, and GRM7 rs3792452 were analyzed by PCR/RFLP or Taqman assay. Expression of mGluRs was measured in the peripheral blood by qPCR. Significantly higher frequencies of rs2067011 ‘A’ allele/ AA’ genotype were detected in the probands. rs905646 ‘A ‘exhibited significantly higher parental transmission. Genetic variants showed independent as well as interactive effects in the probands. Receptor expression was down-regulated in the probands, especially in the presence of rs905646 ‘AA’, rs762724 ‘TT’, rs2067011 ‘GG’, and rs3792452 ‘CC’. Trait scores were higher in the presence of rs762724 ‘T’ and rs2067011 ‘G’. Therefore, in the presence of risk genetic variants, down-regulated mGluR expression may increase autistic trait scores. Since our investigation was confined to the peripheral system, in-depth exploration involving peripheral as well as central nervous systems may validate our observation.

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4. Ezedinma U, Burgess S, Nikles J, Downer T, Jones E, Metse A, Fjaagesund S, Oprescu F. The potential of repetitive transcranial magnetic stimulation for addressing sleep difficulties in children with autism – A brief communication. Sleep Med;2024 (Apr 9);118:78-80.

Sleep difficulties can co-occur with autistic traits and have been frequently reported in children diagnosed with autism. Thus, sleep difficulties may impact neural development, cognition, and behavioural functioning in children with autism. Interventions, such as repetitive transcranial magnetic stimulation (rTMS), that target aberrant neural structures underpinning autistic traits and sleep difficulties in children could have beneficial effects. The rTMS effects on the pathophysiological pathways hypothesised to underpin autism and sleep difficulties are well-established in the literature; however, clinical evidence of its potential to improve sleep difficulties in children with autism is limited. While the preliminary data is promising, further robust rTMS studies are warranted to encourage its use in clinical practices.

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5. Fedewa MP, Watkins L, Carden K, Grbac G. Effects of a Teacher-Facilitated Peer-Mediated Intervention on Social Play of Preschoolers with Autism. J Autism Dev Disord;2024 (Apr 12)

Children with autism often display differences in functional and symbolic play and may experience barriers to social inclusion with peers in preschool settings. Therefore, interventions supporting social play between children with autism and their peers that can be feasibly implemented by teachers in inclusive settings are needed. A teacher-implemented peer-mediated Stay Play Talk (SPT; Goldstein et al. in Top Lang Disord 27(2):182-199, 2007) intervention package targeting the type of play children with autism engage in with peers was implemented using a concurrent multiple baseline design across four participant/peer dyads. Using a cascading coaching model with behavioral skills training, a teacher was trained in intervention strategies and then taught and supported four peers to implement the intervention. In addition to visual analysis, to statistically analyze effects, we calculated effect sizes using the parametric measure standardized mean difference. A functional relation between the intervention and increases in interactive play and initiations and decreases in solitary play was demonstrated across all dyads. Results generalized to novel settings and maintained following withdrawal of teacher support. Results suggest that SPT can be effectively implemented by a teacher to support interactive play between children with and without autism in an inclusive classroom. Implications for future research and clinical practice are discussed.

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6. Fischbach AL, Hindenach A, van der Miesen AIR, Yang JS, Buckley OJ, Song M, Campos L, Strang JF. Autistic and non-autistic transgender youth are similar in gender development and sexuality phenotypes. Br J Dev Psychol;2024 (Apr 13)

Increasing rhetoric regarding the common intersection of autism and gender diversity has resulted in legislation banning autistic transgender youth from accessing standard of care supports, as well as legislative efforts banning all youth gender care in part justified by the proportional over-occurrence of autism. Yet, no study has investigated whether autistic and non-autistic transgender youth present fundamentally different gender-related phenotypes. To address this gap, we extensively characterized autism, gender diversity, and sexuality among autistic and non-autistic transgender binary youth (N = 66, M(age) = 17.17, SD(age) = 2.12) in order to investigate similarities and/or differences in gender and sexuality phenotypes. Neither autism diagnostic status nor continuous autistic traits were significantly related to any gender or sexuality phenotypes. These findings suggest that the developmental and experiential features of gender diversity are very similar between autistic and non-autistic transgender adolescents. Future research is needed to determine whether the similarity in profiles is maintained over time into adulthood.

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7. González-Rojas A, Valencia-Narbona M. Neurodevelopmental Disruptions in Children of Preeclamptic Mothers: Pathophysiological Mechanisms and Consequences. Int J Mol Sci;2024 (Mar 24);25(7)

Preeclampsia (PE) is a multisystem disorder characterized by elevated blood pressure in the mother, typically occurring after 20 weeks of gestation and posing risks to both maternal and fetal health. PE causes placental changes that can affect the fetus, particularly neurodevelopment. Its key pathophysiological mechanisms encompass hypoxia, vascular and angiogenic dysregulation, inflammation, neuronal and glial alterations, and disruptions in neuronal signaling. Animal models indicate that PE is correlated with neurodevelopmental alterations and cognitive dysfunctions in offspring and in humans, an association between PE and conditions such as cerebral palsy, autism spectrum disorder, attention deficit hyperactivity disorder, and sexual dimorphism has been observed. Considering the relevance for mothers and children, we conducted a narrative literature review to describe the relationships between the pathophysiological mechanisms behind neurodevelopmental alterations in the offspring of PE mothers, along with their potential consequences. Furthermore, we emphasize aspects pertinent to the prevention/treatment of PE in pregnant mothers and alterations observed in their offspring. The present narrative review offers a current, complete, and exhaustive analysis of (i) the pathophysiological mechanisms that can affect neurodevelopment in the children of PE mothers, (ii) the relationship between PE and neurological alterations in offspring, and (iii) the prevention/treatment of PE.

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8. Halvorsen MB, Kildahl AN, Kaiser S, Axelsdottir B, Aman MG, Helverschou SB. Applicability and Psychometric Properties of General Mental Health Assessment Tools in Autistic People: A Systematic Review. J Autism Dev Disord;2024 (Apr 13)

In recent years, there has been a proliferation of instruments for assessing mental health (MH) among autistic people. This study aimed to review the psychometric properties of broadband instruments used to assess MH problems among autistic people. In accordance with the PRISMA guidelines (PROSPERO: CRD42022316571) we searched the APA PsycINFO via Ovid, Ovid MEDLINE, Ovid Embase and the Web of Science via Clarivate databases from 1980 to March 2022, with an updated search in January 2024, to identify very recent empirical studies. Independent reviewers evaluated the titles and abstracts of the retrieved records (n = 11,577) and full-text articles (n = 1000). Data were extracted from eligible studies, and the quality of the included papers was appraised. In all, 164empirical articles reporting on 35 instruments were included. The review showed variable evidence of reliability and validity of the various instruments. Among the instruments reported in more than one study, the Aberrant Behavior Checklist had consistently good or excellent psychometric evidence. The reliability and validity of other instruments, including: the Developmental Behavior Checklist, Emotion Dysregulation Inventory, Eyberg Child Behavior Inventory, Autism Spectrum Disorder-Comorbid for Children Scale, and Psychopathology in Autism Checklist, were less documented. There is a need for a greater evidence-base for MH assessment tools for autistic people.

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9. Marcilla-Jorda M, Grande C, Coelho V, Rubio-Belmonte C, Moro-Ipola M. Sensory Profile-2 in Autism Spectrum Disorder: An Analysis within the International Classification of Functioning, Disability and Health Framework. J Autism Dev Disord;2024 (Apr 13)

Autism spectrum disorder (ASD) is characterized by impairments in many functional areas requiring long-term interventions to promote autonomy. This study aims to map The Sensory Profile™ 2 (SP-2), one of the most widely used assessment tools in children with ASD, with the International Classification of Functioning, Disability and Health for Children and Youth (ICF-CY), developed by the World Health Organization (WHO). This will allow the identification of the functional dimensions covered by this instrument and the comparison with the ICF shortlist proposed for autism (ICF Core Set [ICF-CS]). The deductive content analysis described in the ICF Linking Rules was followed, along with a systematized process including statistical and reasoning techniques that could contribute to the improvement of ICF linking studies (Cohen’s Kappa and percentage of agreement). 218 codes were identified, 71% of them were codes related to the body functions chapters, mainly linked to perceptual functions (b160), emotional functions (b152), and temperament and personality functions (b126). Concerning activities and participation chapters (29%) the most frequently used codes were: focusing attention (d160), carrying out daily routine (d230), and walking (d450). Even though the SP-2 items do not assess most of the functional features regarded as essential in the ASD ICF-CS, SP-2 encompasses a majority of problems concerning body functions. This instrument may be considered as part of a multidimensional assessment approach, to complement other sources that are more likely to assess activity and participation dimensions and guide a functional intervention.

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10. Pak NS, Peredo TN, Madero Ucero AP, Kaiser AP. EMT en Español Para Autismo: A Collaborative Communication Intervention Approach and Single Case Design Pilot Study. J Autism Dev Disord;2024 (Apr 13)

The primary purpose of the current pilot study was to test the effects of an adapted and collaborative intervention model with a systematic teaching approach on Latina Spanish-speaking caregivers’ use of EMT en Español Para Autismo strategies with their young children on the autism spectrum. A multiple baseline across behaviors single case design was replicated across two dyads. A series of family interviews and a direct therapist-child intervention phase supported individualization of the intervention. Families were provided speech generating devices as part of their children’s intervention protocol. Caregivers were taught to use EMT en Español Para Autismo strategies with aided language input. Strategies included contingent target-level and proximal target-level language modeling, linguistic expansions, and communication elicitations. Secondary variables measured included generalization of strategy use to unsupported interactions and at a 2-month follow-up, child communication outcomes, and social validity. There was a strong functional relation for one dyad between the adapted and collaborative intervention and caregiver use of EMT strategies. The functional relation was weakened by behavioral covariation for the other dyad. Children increased the quantity and diversity of their communication during the study. Caregivers generalized their use of most EMT strategies and reported most aspects of the approach to be socially valid. The current study provides an initial demonstration of an effective model for adaptation and individualization of naturalistic developmental behavioral interventions for Latino Spanish-speaking families with children on the autism spectrum.

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11. Rivard M, Jacques C, Hérault É, Mello C, Abouzeid N, Saulnier G, Boulé M. An innovative and collaborative method to develop a model care and service trajectory for the assessment, diagnosis, and support of children with developmental disabilities. Eval Program Plann;2024 (Apr 3);104:102431.

This paper documents an innovative research approach undertaken to co-develop an integrated assessment, diagnosis, and support service trajectory for children suspected of having a developmental disability. It employed data-driven practices and involved multiple stakeholders such as parents, professionals, managers, and researchers. It emphasized the importance of incorporating experiential knowledge adopting an integrated care and service trajectory perspective, and using an implementation science framework. The first part of this article presents the theoretical roots and the collaborative method used to co-construct the model trajectory. The second part of this article presents the results of a survey in which participating stakeholders shared their point of view on the value and impact of this approach Overall, this article provides a step-by-step operationalization of participative research in the context of public health and social services. This may help guide future initiatives to improve services for developmental disabilities in partnership with those directly concerned by these services.

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12. Tangviriyapaiboon D, Permsuwan U, Pavasuthipaisit C, Sriminipun A, Dilokthornsakul P. Economic Evaluation of the Thai Diagnostic Autism Scale for Autism Spectrum Disorder Diagnosis in Children Aged 1-5 Years Old. Healthcare (Basel);2024 (Apr 3);12(7)

The Thai Diagnostic Autism Scale (TDAS) was developed for autism spectrum disorder (ASD) diagnosis in Thai children aged 1-5 years. Previous studies have indicated its good performance; however, additional health resources and healthcare providers are necessary for evaluation. Therefore, this study aimed to assess the cost-effectiveness of TDAS compared to clinical diagnosis (ClinDx) for ASD diagnosis in Thai children aged 1-5 years from a societal perspective. The analysis employed a hybrid model consisting of a decision tree model for a diagnostic phase with a state transition model for a follow-up phase. A literature review was conducted to determine TDAS performance and the relative risk of death in patients with ASD. Direct medical costs were assessed through a retrospective medical records review, and a cross-sectional survey was conducted to determine direct nonmedical costs, ASD severities, and utility values. The cost of TDAS was derived from a healthcare provider interview (n = 10). The incremental cost-effectiveness ratio (ICER) compared the total lifetime cost and quality-adjusted life years (QALY) between TDAS and ClinDx. We found that TDAS could improve QALY by 1.96 but increased total lifetime cost by 5577 USD, resulting in an ICER of 2852 USD/QALY. Sensitivity analysis indicated an 81.16% chance that TDAS is cost-effective. The probabilities of different ASD severities were key influencing factors of the findings. In conclusion, TDAS is the cost-effective option for ASD diagnosis in Thai children aged 1-5 years compared to ClinDx, despite some uncertainties around inputs. Further monitoring and evaluation are warranted if TDAS is to be implemented nationwide.

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13. Tseng CJ, Canales C, Marcus RE, Parmar AJ, Hightower BG, Mullett JE, Makary MM, Tassone AU, Saro HK, Townsend PH, Birtwell K, Nowinski L, Thom RP, Palumbo ML, Keary C, Catana C, McDougle CJ, Hooker JM, Zürcher NR. In vivo translocator protein in females with autism spectrum disorder: a pilot study. Neuropsychopharmacology;2024 (Apr 13)

Sex-based differences in the prevalence of autism spectrum disorder (ASD) are well-documented, with a male-to-female ratio of approximately 4:1. The clinical presentation of the core symptoms of ASD can also vary between sexes. Previously, positron emission tomography (PET) studies have identified alterations in the in vivo levels of translocator protein (TSPO)-a mitochondrial protein-in primarily or only male adults with ASD, with our group reporting lower TSPO relative to whole brain mean in males with ASD. However, whether in vivo TSPO levels are altered in females with ASD, specifically, is unknown. This is the first pilot study to measure in vivo TSPO in the brain in adult females with ASD using [(11)C]PBR28 PET-magnetic resonance imaging (MRI). Twelve adult females with ASD and 10 age- and TSPO genotype-matched controls (CON) completed one or two [(11)C]PBR28 PET-MRI scans. Females with ASD exhibited elevated [(11)C]PBR28 standardized uptake value ratio (SUVR) in the midcingulate cortex and splenium of the corpus callosum compared to CON. No brain area showed lower [(11)C]PBR28 SUVR in females with ASD compared to CON. Test-retest over several months showed stable [(11)C]PBR28 SUVR across time in both groups. Elevated regional [(11)C]PBR28 SUVR in females with ASD stand in stark contrast to our previous findings of lower regional [(11)C]PBR28 SUVR in males with ASD. Preliminary evidence of regionally elevated mitochondrial protein TSPO relative to whole brain mean in ASD females may reflect neuroimmuno-metabolic alterations specific to females with ASD.

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14. Woodhouse E, Hollingdale J, Davies L, Al-Attar Z, Young S, Vinter LP, Agyemang K, Bartlett C, Berryessa C, Chaplin E, Deeley Q, Freckelton I, Gerry F, Gudjonsson G, Maras K, Mattison M, McCarthy J, Mills R, Misch P, Murphy D, Allely C. Identification and support of autistic individuals within the UK Criminal Justice System: a practical approach based upon professional consensus with input from lived experience. BMC Med;2024 (Apr 12);22(1):157.

BACKGROUND: Autism spectrum disorder (hereafter referred to as autism) is characterised by difficulties with (i) social communication, social interaction, and (ii) restricted and repetitive interests and behaviours. Estimates of autism prevalence within the criminal justice system (CJS) vary considerably, but there is evidence to suggest that the condition can be missed or misidentified within this population. Autism has implications for an individual’s journey through the CJS, from police questioning and engagement in court proceedings through to risk assessment, formulation, therapeutic approaches, engagement with support services, and long-term social and legal outcomes. METHODS: This consensus based on professional opinion with input from lived experience aims to provide general principles for consideration by United Kingdom (UK) CJS personnel when working with autistic individuals, focusing on autistic offenders and those suspected of offences. Principles may be transferable to countries beyond the UK. Multidisciplinary professionals and two service users were approached for their input to address the effective identification and support strategies for autistic individuals within the CJS. RESULTS: The authors provide a consensus statement including recommendations on the general principles of effective identification, and support strategies for autistic individuals across different levels of the CJS. CONCLUSION: Greater attention needs to be given to this population as they navigate the CJS.

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