1. Bendo GJ, Sturrock A, Hanks G, Plack CJ, Gowen E, Guest H. The diversity of speech-perception difficulties among autistic individuals. Autism Dev Lang Impair;2024 (Jan-Dec);9:23969415241227074.

BACKGROUND & AIMS: Communicative and sensory differences are core autistic traits, yet speech-perception abilities and difficulties among autistic individuals remain poorly understood. Laboratory studies have produced mixed and inconclusive results, in part because of the lack of input from autistic individuals in defining the hypotheses and shaping the methods used in this field of research. Little in-depth qualitative research on autistic experiences of speech perception has been published, yet such research could form the basis for better laboratory research, for improved understanding of autistic experiences, and for the development of interventions. Existing qualitative research describes widespread autistic listening differences with significant impacts, but these results rely on data gathered via oral interviews in a small sample. The present study addresses these limitations and employs a mixed-methods approach to explore autistic listening experiences. METHODS: We gathered survey data from 79 autistic individuals aged 18-55 without diagnosed hearing loss. The questionnaire included 20 closed-set questions on listening abilities and difficulties and three free-text questions on listening experiences. The free-text questions underwent deductive content analysis using a framework composed of themes from previous interview data on listening experiences (including auditory differences, contributing factors, impacts, and coping strategies). Concepts in the free-text data that were not part of the analysis framework were analyzed inductively. RESULTS: In the closed-set data, participants reported listening difficulties in most specified environments, but complex background sounds and particularly background voices caused the most difficulty. Those who reported listening difficulties expressed having substantially greater difficulties than other people the same age. Participants indicated multiple impacts from listening difficulties, most prominently in their social lives. Concepts in the free-text data strongly supported previous interview data on listening differences and factors that affect listening ability, especially the diversity of types of listening difficulties. Consistent with the closed-set data, background-sound complexity and concurrent voices were especially troubling. Some concepts in the free-text data were novel, particularly difficulties with remote, broadcast, and recorded audio, prompting the creation of new themes. CONCLUSIONS: Both forms of data indicate widespread listening differences-predominantly listening difficulties-affecting most autistic adults. Diverse types of listening difficulty are evident, potentially indicating heterogeneous underlying mechanisms, and complexity of background noise is consistently identified as an important factor. Listening difficulties are said to have substantial and varied impacts. Autistic adults are keen to share coping strategies, which are varied and usually self-devised. IMPLICATIONS: Based on both the quantitative and qualitative results, we provide recommendations to improve future research and support the autistic community. The data-revealing types of listening difficulties can guide better quantitative research into underlying mechanisms. Such research should take into account potential heterogeneity in listening difficulties. Suggestions for optimized collection of self-report data are also offered. Additionally, our results could be used to improve societal understanding of autistic listening differences and to create beneficial interventions for and with autistic individuals. Moreover, given the willingness of the autistic community to share coping strategies, systematic collation of these strategies could form the basis for self-help and clinical guidance.

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2. Birnschein AM, Ward OF, McClain AB, Harmon RL, Paisley CA, Stevens M, Tomeny TS. Qualitative Ascriptions of Autistic Behavior by Non-Autistic College Students. J Autism Dev Disord;2024 (Jan 27)

In studies that assess perceptions of autistic people by non-autistic people, researchers often ask participants to review vignettes depicting fictional autistic characters. However, few studies have investigated whether non-autistic peers accurately identify these hypothetical individuals as being on the autism spectrum. Accurately ascribing autism as a cause of depicted behaviors likely influences perceptions about autistic peers. In this study, 469 college students (M(age) = 18.62; 79.3% female) ascribed cause(s) of an autistic peers’ behaviors as depicted in a written vignette. We reviewed and categorized open-ended responses into 16 categories. Non-autistic college students primarily attributed an autistic vignette character’s behavior to non-autistic origins. The most commonly ascribed causes of behavior were: attention-deficit/hyperactivity disorder (55.4%), inattention symptoms (20.9%), autism (12.8%), generalized anxiety disorder (11.7%), hyperactivity (11.3%), an unspecified diagnosis (10.7%), an environmental influence (9.6), anxiety or insecurity (8.3%), irritability or anger or annoyance (6.0%), social anxiety disorder (5.3%), and learning disorder (5.1%). Additional ascribed causes include other mental health diagnoses; environmental stressors; and cognitive, emotional, behavioral, biological, or personality characteristics/etiologies. Non-autistic young adults may not always recognize their autistic peers as autistic, which may affect acceptance and inclusion. Future anti-stigma interventions should assess the impact of helping non-autistic peers to accurately identify and better understand behaviors associated with autism. Additionally, autism-focused researchers using vignettes should assess participants’ awareness of the character as autistic and interpret their findings with this in mind.

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3. Chen B, Olson L, Rios A, Salmina M, Linke A, Fishman I. Reduced covariation between brain morphometry and local spontaneous activity in young children with ASD. Cereb Cortex;2024 (Jan 27)

While disruptions in brain maturation in the first years of life in ASD are well documented, little is known about how the brain structure and function are related in young children with ASD compared to typically developing peers. We applied a multivariate pattern analysis to examine the covariation patterns between brain morphometry and local brain spontaneous activity in 38 toddlers and preschoolers with ASD and 31 typically developing children using T1-weighted structural MRI and resting-state fMRI data acquired during natural sleep. The results revealed significantly reduced brain structure-function correlations in ASD. The resultant brain structure and function composite indices were associated with age among typically developing children, but not among those with ASD, suggesting mistiming of typical brain maturational trajectories early in life in autism. Additionally, the brain function composite indices were associated with the overall developmental and adaptive behavior skills in the ASD group, highlighting the neurodevelopmental significance of early local brain activity in autism.

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4. Fourie E, Lu SC, Delafield-Butt J, Rivera SM. Motor Control Adherence to the Two-thirds Power Law Differs in Autistic Development. J Autism Dev Disord;2024 (Jan 27)

Autistic individuals often exhibit motor atypicalities, which may relate to difficulties in social communication. This study utilized a smart tablet activity to computationally characterize motor control by testing adherence to the two-thirds power law (2/3 PL), which captures a systematic covariation between velocity and curvature in motor execution and governs many forms of human movement. Children aged 4-8 years old participated in this study, including 24 autistic children and 33 typically developing children. Participants drew and traced ellipses on an iPad. We extracted data from finger movements on the screen, and computed adherence to the 2/3 PL and other kinematic metrics. Measures of cognitive and motor functioning were also collected. In comparison to the typically developing group, the autistic group demonstrated greater velocity modulation between curved and straight sections of movement, increased levels of acceleration and jerk, and greater intra- and inter-individual variability across several kinematic variables. Further, significant motor control development was observed in typically developing children, but not in those with autism. This study is the first to examine motor control adherence to the 2/3 PL in autistic children, revealing overall diminished motor control. Less smooth, more varied movement and an indication of developmental stasis in autistic children were observed. This study offers a novel tool for computational characterization of the autism motor signature in children’s development, demonstrating how smart tablet technology enables accessible assessment of children’s motor performance in an objective, quantifiable and scalable manner.

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5. Kim HY, Cho GJ, Ahn KH, Hong SC, Oh MJ, Kim HJ. Short-term neonatal and long-term neurodevelopmental outcome of children born term low birth weight. Sci Rep;2024 (Jan 27);14(1):2274.

This study aimed to examine the impact of term LBW on short-term neonatal and long-term neurodevelopmental outcomes in children 5-7 years of age. This is a population-based cohort study that merged national data from the Korea National Health Insurance claims and National Health Screening Program for Infants and Children. The participants were women who gave birth at a gestational age of ≥ 37 weeks between 2013 and 2015 in the Republic of Korea, and were tracked during 2020 for the neurodevelopmental surveillance of their children. Among 830,806 women who gave birth during the study period, 31,700 (3.8%) of their babies weighed less than 2500 g. By Cox proportional hazard analysis, children aged 5-7 years who had LBW were associated with any developmental, motor developmental delay, cognitive developmental delay, autism spectrum, attention deficit hyperactivity disorders, and epileptic and febrile seizures.Children born with term LBW were more vulnerable to neurodevelopmental disorders at 5-7 years of age than those with normal and large birth weights. This study further substantiates counseling parents regarding the long-term outcomes of children being born underweight.

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6. McKinnon I, Iranpour A, Charlton A, Green E, Groom F, Watts O, McKenna D, Hackett S. Models of care in secure services for people with intellectual and developmental disability: Implementing the Walkway to Wellness. Crim Behav Ment Health;2024 (Jan 27)

BACKGROUND: Changes to policy around inpatient services for people with intellectual and developmental disability (IDD) who offend, have led to a need for services to reconsider their models of care. This has led to calls for more tailored, patient-centred care models, with less reliance solely on offence-related treatment programmes which can be unsuitable for a growing proportion of patients with more complex cognitive and behavioural difficulties. In response, the Walkway to Wellness (W2W) was developed at one National Health Service Trust providing secure services to people with IDD, with the intention of delivering a more collaborative, co-produced and goal-oriented care model that was better understood by staff and patient stakeholders. AIMS: To evaluate the implementation of the W2W using Normalisation Process Theory (NPT), an evidence-based theoretical approach is used across a number of health settings. METHODS: Staff were invited to complete a short questionnaire, using the NPT informed Normalisation Measure Development questionnaire, at two time points along the implementation process. Patients were invited to complete a simplified questionnaire. Both groups were asked for their views on the W2W and the process of its implementation. RESULTS: Although the W2W was more familiar to staff at the second time point, scores on the four NPT constructs showed a trend for it being less embedded in practice, with significant results concerning the ongoing appraisal of the new model. Patient views were mixed; some saw the benefit of more goal-oriented processes, but others considered it an additional chore hindering their own perceived goals. CONCLUSION: Early involvement of all stakeholders is required to enhance the understanding of changes to models of care. Live feedback should be used to refine and revise the model to meet the needs of patients, carers and staff members.

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7. Musetti A, Zagaria A, Pezzi M, Fante C, Dioni B, Raffin C, Manari T, Lenzo V, De Luca Picione R. Parental quality of life, child adjustment and adult attachment in parents of children and adolescents with Autism Spectrum Disorder. Res Dev Disabil;2024 (Jan 27);146:104684.

BACKGROUND: Parents of children and adolescents with Autism Spectrum Disorder (ASD) may experience a lower quality of life (QoL) than parents of offspring with typical development. However, factors associated with parental QoL are not yet fully understood. AIMS: This study aimed to investigate the relationships between parental QoL, child adjustment and adult attachment among parents of children and adolescents with ASD. METHODS AND PROCEDURES: One hundred and eighty-eight parents of children and adolescents diagnosed with ASD completed a group of self-report questionnaires on sociodemographic variables, QoL (i.e., overall QoL and ASD symptoms-related parental QoL), child adjustment (i.e., offspring’s total problems and prosocial behaviors) and adult attachment. OUTCOMES AND RESULTS: Structural equation modeling revealed that the overall parental QoL was negatively related to children’s total problems and positively associated with prosocial behaviors, as well as with higher levels of secure attachment and lower levels of fearful attachment styles. Additionally, ASD symptoms-related parental QoL was negatively associated with the offspring’s total problems. CONCLUSIONS AND IMPLICATIONS: This suggests that child characteristics may interact with parental characteristics to either enhance or compromise the QoL of parents of children and adolescents with ASD. Implications of these findings for promoting parental QoL are discussed.

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8. Ros-Pardo D, Gómez-Puertas P, Marcos-Alcalde Í. STAG2: Computational Analysis of Missense Variants Involved in Disease. Int J Mol Sci;2024 (Jan 20);25(2)

The human STAG2 protein is an essential component of the cohesin complex involved in cellular processes of gene expression, DNA repair, and genomic integrity. Somatic mutations in the STAG2 sequence have been associated with various types of cancer, while congenital variants have been linked to developmental disorders such as Mullegama-Klein-Martinez syndrome, X-linked holoprosencephaly-13, and Cornelia de Lange syndrome. In the cohesin complex, the direct interaction of STAG2 with DNA and with NIPBL, RAD21, and CTCF proteins has been described. The function of STAG2 within the complex is still unknown, but it is related to its DNA binding capacity and is modulated by its binding to the other three proteins. Every missense variant described for STAG2 is located in regions involved in one of these interactions. In the present work, we model the structure of 12 missense variants described for STAG2, as well as two other variants of NIPBl and two of RAD21 located at STAG2 interaction zone, and then analyze their behavior through molecular dynamic simulations, comparing them with the same simulation of the wild-type protein. This will allow the effects of variants to be rationalized at the atomic level and provide clues as to how STAG2 functions in the cohesin complex.

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9. Santos TCD, Obando JMC, Leite PEC, Pereira MR, Leitão MF, Abujadi C, Pimenta LFL, Martins RCC, Cavalcanti DN. Approaches of marine compounds and relevant immune mediators in Autism Spectrum Disorder: Opportunities and challenges. Eur J Med Chem;2024 (Feb 15);266:116153.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that affects social skills, language, communication, and behavioral skills, significantly impacting the individual’s quality of life. Recently, numerous works have centered on the connections between the immune and central nervous systems and the influence of neuroinflammation on autism symptomatology. Marine natural products are considered as important alternative sources of different types of compounds, including polysaccharides, polyphenols, sterols, carotenoids, terpenoids and, alkaloids. These compounds present anti-inflammatory, neuroprotective and immunomodulatory activities, exhibiting a potential for the treatment of many diseases. Although many studies address the marine compounds in the modulation of inflammatory mediators, there is a gap regarding their use in the regulation of the immune system in ASD. Thus, this review aims to provide a better understanding regarding cytokines, chemokines, growth factors and immune responses in ASD, as well as the potential of bioactive marine compounds in the immune regulation in ASD. We expect that this review would contribute to the development of therapeutic alternatives for controlling immune mediators and inflammation in ASD.

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10. Scheeren AM, Olde Dubbelink L, Lever AG, Geurts HM. Two validation studies of a performance validity test for autistic adults. Appl Neuropsychol Adult;2024 (Jan 27):1-13.

In two studies we examined the potential of a simple emotion recognition task, the Morel Emotional Numbing Test (MENT), as a performance validity test (PVT) for autism-related cognitive difficulties in adulthood. The aim of a PVT is to indicate non-credible performance, which can aid the interpretation of psychological assessments. There are currently no validated PVTs for autism-related difficulties in adulthood. In Study 1, non-autistic university students (aged 18-46 years) were instructed to simulate that they were autistic during a psychological assessment (simulation condition; n = 26). These students made more errors on the MENT than those instructed to do their best (control condition; n = 26). In Study 2, we tested how well autistic adults performed on the MENT. We found that clinically diagnosed autistic adults and non-autistic adults (both n = 25; 27-57 years; IQ > 80) performed equally well on the MENT. Moreover, autistic adults made significantly fewer errors than the instructed simulators in Study 1. The MENT reached a specificity of ≥98% (identifying 100% of non-simulators as non-simulator in Study 1 and 98% in Study 2) and a sensitivity of 96% (identifying 96% of simulators as simulator). Together these findings provide the first empirical evidence for the validity of the MENT as a potential PVT for autism-related cognitive difficulties.

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11. Song Y, Hupfeld KE, Davies-Jenkins CW, Zöllner HJ, Murali-Manohar S, Mumuni AN, Crocetti D, Yedavalli V, Oeltzschner G, Alessi N, Batschelett MA, Puts NAJ, Mostofsky SH, Edden RAE. Brain glutathione and GABA+ levels in autistic children. Autism Res;2024 (Jan 26)

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by social communication challenges and repetitive behaviors. Altered neurometabolite levels, including glutathione (GSH) and gamma-aminobutyric acid (GABA), have been proposed as potential contributors to the biology underlying ASD. This study investigated whether cerebral GSH or GABA levels differ between a cohort of children aged 8-12 years with ASD (n = 52) and typically developing children (TDC, n = 49). A comprehensive analysis of GSH and GABA levels in multiple brain regions, including the primary motor cortex (SM1), thalamus (Thal), medial prefrontal cortex (mPFC), and supplementary motor area (SMA), was conducted using single-voxel HERMES MR spectroscopy at 3T. The results revealed no significant differences in cerebral GSH or GABA levels between the ASD and TDC groups across all examined regions. These findings suggest that the concentrations of GSH (an important antioxidant and neuromodulator) and GABA (a major inhibitory neurotransmitter) do not exhibit marked alterations in children with ASD compared to TDC. A statistically significant positive correlation was observed between GABA levels in the SM1 and Thal regions with ADHD inattention scores. No significant correlation was found between metabolite levels and hyper/impulsive scores of ADHD, measures of core ASD symptoms (ADOS-2, SRS-P) or adaptive behavior (ABAS-2). While both GSH and GABA have been implicated in various neurological disorders, the current study provides valuable insights into the specific context of ASD and highlights the need for further research to explore other neurochemical alterations that may contribute to the pathophysiology of this complex disorder.

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12. Tessarech M, Friocourt G, Marguet F, Lecointre M, Le Mao M, Muñoz Díaz R, Mignot C, Keren B, Héron B, De Bie C, Van Gassen K, Loisel D, Delorme B, Syrbe S, Klabunde-Cherwon A, Jamra RA, Wegler M, Callewaert B, Dheedene A, Zidannes-Marinnes M, Guichet A, Bris C, Van Bogaert P, Biquard F, Lenaers G, Marcorelles P, Ferec C, Gonzalez B, Procaccio V, Vitobello A, Bonneau D, Laquerriere A, Khiati S, Colin E. De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity. Genet Med;2024 (Jan 27):101087.

PURPOSE: Interneuronopathies are a group of neurodevelopmental disorders characterized by deficient migration and differentiation of GABAergic interneurons resulting in a broad clinical spectrum, including autism spectrum disorders, early-onset epileptic encephalopathy, intellectual disability, and schizophrenic disorders. SP9 is a transcription factor belonging to the Krüppel-like factor and specificity protein family, the members of which harbor highly conserved DNA binding domains. SP9 plays a central role in interneuron development and tangential migration, but it has not yet been implicated in a human neurodevelopmental disorder. METHODS: Cases with SP9 variants were collected through international data-sharing networks. To address the specific impact of SP9 variants in silico and in vitro assays were carried out. RESULTS: De novo heterozygous variants in SP9 cause a novel form of interneuronopathy. SP9 missense variants affecting the Glutamate 378 amino acid result in severe epileptic encephalopathy due to hypomorphic and neomorphic DNA-binding effects, whereas SP9 loss-of-function variants result in a milder phenotype with epilepsy, developmental delay, and autism spectrum disorder. CONCLUSION: De novo heterozygous SP9 variants are responsible for a neurodevelopmental disease. Interestingly, variants located in conserved DNA-binding domains of KLF/SP family transcription factors may lead to neomorphic DNA-binding functions resulting in a combination of loss- and gain-of-function effects.

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13. Travers BG, Surgent O, Guerrero-Gonzalez J, Dean DC, 3rd, Adluru N, Kecskemeti SR, Kirk GR, Alexander AL, Zhu J, Skaletski EC, Naik S, Duran M. Role of autonomic, nociceptive, and limbic brainstem nuclei in core autism features. Autism Res;2024 (Jan 26)

Although multiple theories have speculated about the brainstem reticular formation’s involvement in autistic behaviors, the in vivo imaging of brainstem nuclei needed to test these theories has proven technologically challenging. Using methods to improve brainstem imaging in children, this study set out to elucidate the role of the autonomic, nociceptive, and limbic brainstem nuclei in the autism features of 145 children (74 autistic children, 6.0-10.9 years). Participants completed an assessment of core autism features and diffusion- and T1-weighted imaging optimized to improve brainstem images. After data reduction via principal component analysis, correlational analyses examined associations among autism features and the microstructural properties of brainstem clusters. Independent replication was performed in 43 adolescents (24 autistic, 13.0-17.9 years). We found specific nuclei, most robustly the parvicellular reticular formation-alpha (PCRtA) and to a lesser degree the lateral parabrachial nucleus (LPB) and ventral tegmental parabrachial pigmented complex (VTA-PBP), to be associated with autism features. The PCRtA and some of the LPB associations were independently found in the replication sample, but the VTA-PBP associations were not. Consistent with theoretical perspectives, the findings suggest that individual differences in pontine reticular formation nuclei contribute to the prominence of autistic features. Specifically, the PCRtA, a nucleus involved in mastication, digestion, and cardio-respiration in animal models, was associated with social communication in children, while the LPB, a pain-network nucleus, was associated with repetitive behaviors. These findings highlight the contributions of key autonomic brainstem nuclei to the expression of core autism features.

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14. Volgyesi-Molnar M, Gyori M, Eapen V, Borsos Z, Havasi A, Jakab Z, Janoch L, Nemeth V, Oszi T, Szekeres A, Stefanik K. Quality of Life in Hungarian Parents of Autistic Individuals. J Autism Dev Disord;2024 (Jan 27)

PURPOSE: Parents of autistic individuals have been known to have a lower overall quality of life (QQL) than those of typically developing children. We present the first Hungarian large-sample study whose objective was to explore the differences in QOL between parents of autistic individuals (AS) and those of neurotypical (NT) persons. METHODS: Based on the ABCX model we developed a questionnaire comprising standardized scales to characterize the life of parents involved. Our data came from parents of 842 individuals (ASD = 521, NT = 321) between 0 and 49 years. Battery deployed standardized instruments to examine quality of life (WHO-QQL BREF and Quality of Life in Autism questionnaire, QOLA). We assessed the families’ socio-economic/demographic characteristics, parents’ psychological well-being, the autistic/neurotypical individuals’ characteristics, and the interventions. RESULTS: Our data showed significantly lower QOL in parents of autistic individuals in all domains of questionnaires. We analyzed 20 relevant factors to uncover the predictors of parental QOL. We confirmed the existence of most but not all predictors present in earlier literature and identified intervention-related predictors. CONCLUSION: Our study confirms the importance of supporting parents in their role, and of providing health and social supports that focus on quality of life, in addition to child care.

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