Pubmed du 07/12/24

Pubmed du jour

1. Bullen JC, Birkeneder SL, Zajic MC, Lerro LS, McIntyre N, Sparapani N, Mundy P. Longitudinal stability and Autism Diagnostic Observation Scale-2 predictors of the Childhood Joint Attention Rating Scale. Autism;2024 (Dec 7):13623613241304208.

This study tested a measure designed to capture social development in childhood and adolescence called the Childhood Joint Attention Rating Scale. This is important to study as most measures of social behavior are for preschool-aged children. We asked parents of 64 autistic children, 27 children with attention deficit/hyperactivity disorder, and 36 neurotypical children to fill out a new parent questionnaire designed to assess social skills. Specifically, our measure asks about both strengths and difficulties their child has with sharing experiences, engaging in cooperative efforts with others, and more. It is important to have strengths included in measures, as many autism measures only take difficulties into account. The findings of this study show that this new measure can assess social skill strengths and difficulties in children and adolescents. This measure may be useful in future research to help us understand how strengths and challenges in social behaviors develop or change throughout childhood and adolescence in autistic people.

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2. Butler MG. Six at Sixty. Commentary on identification of the PTEN gene as a major contributor to autism spectrum disorder. J Med Genet;2024 (Dec 6)

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3. Cardillo R, Marino C, Collini M, Vieno A, Spada MM, Mammarella IC. Browsing problematic social media use in autism spectrum disorder: The role of social anxiety. Addict Behav;2024 (Dec 3);162:108225.

Accessing the Internet is one of the most frequent free-time activities among autistic and non-autistic adolescents. Autistic individuals may experience communicative benefits from using the Internet. However, they may also be at risk of developing Problematic Social Media Use (PSMU). To date, PSMU in autistic adolescents remains underinvestigated, and no research has analyzed the role of emotional correlates. The present study aims to investigate possible differences in terms of PSMU comparing autistic participants to their non-autistic peers, and examine the role of two dimensions of social anxiety (i.e., humiliation/refusal and performance anxiety) as reported by both children and parents in worsening the levels of PSMU. A total of 183 participants (76 on the autism spectrum), aged (8-17 years) participated in the study. Questionnaires on social media use and on social anxiety were administered. Moreover, parents of the participants were asked to complete a questionnaire related to their children’s social anxiety. Results showed similar levels of PSMU across the two groups. However, a different pattern of relationships between PSMU and age, and the two dimensions of social anxiety was observed in autistic adolescents as compared to the non-autistic peers, revealing that individual characteristics and specific social anxiety beliefs might be relevant to understanding PSMU in autism. The clinical and preventive implications of these findings are discussed.

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4. Dehnavi F, Khan A. Executive function among adults with autism spectrum disorder: An eye-tracking study. Appl Neuropsychol Adult;2024 (Dec 7):1-13.

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by social communication deficits and repetitive behaviors. Eye movement abnormalities are common in ASD, suggesting underlying cognitive impairments such as working memory and response inhibition. However, several investigations suggest deficits in inhibitory control and working memory among individuals with ASD, whereas others indicate performance levels similar to typically developing individuals. The variability observed in executive function (EF) profiles across various tasks and age cohorts underscores the intricate interplay between ASD and cognitive functioning. Therefore, to bridge these gaps and gain a comprehensive understanding of the specific components of EF affected by ASD, this study used eye-tracking technology to analyze cognitive processing. In the working memory task, the clinical group comprised adults with ASD (N = 52), aged between 25 and 47 years (M = 31.65 years, SD = 6.05), while the control group (non-ASD) included individuals (N = 53), aged between 25 and 55 years (M = 33.15 years, SD = 5.92). For the response inhibition task, the clinical group consisted of adults with ASD (N = 50), aged between 25 and 47 years (M = 31.66 years, SD = 6.153), and the control group comprising individuals (N = 56), aged between 25 and 55 years (M = 33.03 years, SD = 5.80). The study revealed that individuals with ASD demonstrate notable impairments and increased errors in EF, encompassing inhibitory control and working memory when compared to non-ASD individuals. Additionally, individuals with ASD exhibited differences in fixation duration, saccade count, and fixation count compared to their non-ASD counterparts, further highlighting the distinct cognitive profile associated with ASD. Analyzing EF in adults with ASD through eye movement patterns provides valuable insights into the underlying cognitive processes and attentional mechanisms at play.

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5. Fadeev KA, Romero Reyes IV, Goiaeva DE, Obukhova TS, Ovsiannikova TM, Prokofyev AO, Rytikova AM, Novikov AY, Kozunov VV, Stroganova TA, Orekhova EV. Attenuated processing of vowels in the left temporal cortex predicts speech-in-noise perception deficit in children with autism. J Neurodev Disord;2024 (Dec 6);16(1):67.

BACKGROUND: Difficulties with speech-in-noise perception in autism spectrum disorders (ASD) may be associated with impaired analysis of speech sounds, such as vowels, which represent the fundamental phoneme constituents of human speech. Vowels elicit early (< 100 ms) sustained processing negativity (SPN) in the auditory cortex that reflects the detection of an acoustic pattern based on the presence of formant structure and/or periodic envelope information (f0) and its transformation into an auditory "object". METHODS: We used magnetoencephalography (MEG) and individual brain models to investigate whether SPN is altered in children with ASD and whether this deficit is associated with impairment in their ability to perceive speech in the background of noise. MEG was recorded while boys with ASD and typically developing boys passively listened to sounds that differed in the presence/absence of f0 periodicity and formant structure. Word-in-noise perception was assessed in the separate psychoacoustic experiment using stationary and amplitude modulated noise with varying signal-to-noise ratio. RESULTS: SPN was present in both groups with similarly early onset. In children with ASD, SPN associated with processing formant structure was reduced predominantly in the cortical areas lateral to and medial to the primary auditory cortex, starting at ~ 150-200 ms after the stimulus onset. In the left hemisphere, this deficit correlated with impaired ability of children with ASD to recognize words in amplitude-modulated noise, but not in stationary noise. CONCLUSIONS: These results suggest that perceptual grouping of vowel formants into phonemes is impaired in children with ASD and that, in the left hemisphere, this deficit contributes to their difficulties with speech perception in fluctuating background noise.

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6. Gyamenah P, Burrows K, Rai D, Joinson C. Associations of Autistic Traits and Autism with Incontinence and Constipation in a UK Birth Cohort. J Autism Dev Disord;2024 (Dec 7)

There is evidence that children with autism/autistic traits have higher risks of incontinence and constipation, but no studies have examined this in a large community-based cohort. Aim/Research question: are autistic traits and diagnosed autism prospectively associated with increased odds of incontinence and constipation in children and adolescents? This was a population-based cohort study based on data from the Avon Longitudinal Study of Parents and Children (n = 4233-4490 at age 9 years; n = 3403-3697 at age 14). We used multivariable logistic regression to examine associations of parent-reported autistic traits (sociability, repetitive behaviours, social-communication, coherence) (at ages 3-9 years) and autism with incontinence (bedwetting, daytime-wetting, soiling) and constipation (parent-reported at age 9, self-reported at age 14). We adjusted for parity, maternal age at delivery, child’s sex and developmental level, maternal depression, and anxiety (antenatal and postnatal), and indicators of family socioeconomic status. Social-communication and speech coherence difficulties showed the strongest associations with incontinence, e.g., adjusted odds ratio (OR) and 95% confidence interval (CI) for the association between social-communication difficulties and daytime-wetting was 2.21 (1.47-3.32) and for coherence was 2.34 (1.60-3.43). The odds of soiling were also higher in children with social-communication (OR: 1.88, 95% CI 1.28-2.75) and coherence difficulties (OR: 2.04, 95% CI 1.43-2.93). Diagnosed autism was only associated with an increase in the odds of daytime-wetting (OR: 3.18, 95% CI 1.44-7.02). At 14 years, there was less evidence of associations between autistic traits and incontinence but there was evidence of associations between autistic traits and constipation: social-communication (OR: 1.68, 95% CI 1.13-2.49), coherence difficulties (OR: 1.64, 95% CI 1.11-2.41). Early assessment and treatment of incontinence/constipation should be considered for children with autistic traits.

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7. Johnson TD, Joshi A. A stigma perspective on neurodiversity research: Lessons from autistic workers. Curr Opin Psychol;2024 (Nov 30);62:101959.

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8. Khodayari M, Yaali R, Ghadiri F. Effect of Implicit Learning Methods With the External Focus of Attention on Bowling Skills in Children With Autism Spectrum Disorder: A Randomized Control Trial Study. Brain Behav;2024 (Dec);14(12):e70139.

PURPOSE: The aim of the current study was to compare implicit learning methods with an emphasis on the external focus of attention on bowling skill in autistic children. METHOD: Twenty children with autism spectrum disorder (ASD) were selected. After the participants were randomly divided into two groups, the pretest was performed, evaluating the participants both quantitatively (score of bowling pins falling) and qualitatively (TGMD3 subscale test of underhand ball throwing). Group A was trained using the errorless learning method with the external focus of attention, while Group B was trained using the analogical learning method with the external focus of attention. FINDINGS: The results showed that analogical learning with the external focus of attention has significant effects (p ≤ 0.05) on both bowling and underhand ball-throwing skills in autistic children. Errorless learning with external focus of attention, on the other hand, had a significant effect (p ≤ 0.05) on the bowling skill. CONCLUSION: The results of the research showed that analogical learning with an external focus of attention can be effective in developing both bowling skill and underhand ball-throwing skill in children with ASD; however, errorless learning with an external focus of attention was useful in developing bowling skill and failed to show a significant effect on enhancing the underhand ball-throwing skill in children diagnosed with ASD. TRIAL REGISTRATION: IRCT20220920056007N1.

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9. Kirkovski M, Papavasiliou G, Speranza BE, Scarfo J, Albein-Urios N, Linardon J, Phillipou A, Fuller-Tyszkiewicz M, Enticott PG. Autism spectrum disorder and anorexia nervosa: Investigating the behavioural and neurocognitive overlap. Psychiatry Res;2024 (Nov 27);344:116285.

Autism spectrum disorder (autism) and anorexia nervosa (AN) share many clinical features. Two key neurocognitive correlates of the autistic dyad, specifically, mentalising (social impairment) and set-shifting (restricted and repetitive behaviours/interests [RRBI]) were investigated in a sample of 327 adult participants with autism (n = 100; 50 females, 50 male), AN (n = 82; 54 females, 28 male), autism and AN (n = 45; 36 females, 9 male), and 100 (50 female, 50 male) control participants from the general population. A battery of self-report (Autism Spectrum Quotient, Eating Disorder Examination Questionnaire, Reflective Function Questionnaire, and Repetitive Behaviour Questionnaire 2 – Adult version) and performance-based (Wisconsin Card Sort Task [WCST] and Penn Emotion Recognition Test [ER-40]) measures were administered online. Clinical participants reported greater mentalising difficulty, more repetitive behaviour, and displayed worse mentalising ability compared to controls, with no difference between the clinical groups. Eating disorder psychopathology predicted error (total and perseverative) rates on the WCST, while lower levels of autistic traits were positively associated with ER-40 accuracy. We provide evidence that clinical features of autism and AN might have specific neurocognitive relevance. Improved understanding of the mechanisms underlying the overlapping features of autism and AN can have critical implications for early detection and improved and tailored intervention.

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10. Menezo YJR, Elder K. Assessing the impact of medically assisted reproduction on autism spectrum disorder risk: The current scientific knowledge. J Assist Reprod Genet;2024 (Dec 7)

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11. O’Donald F, Ferrie J, Calia C. Addressing the Gaps in Assessing Dementia in Older Autistic Adults. Int J Geriatr Psychiatry;2024 (Dec);39(12):e70031.

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12. Zhu J, Liu H, Hu Y, Liu J, Dai C, Liang J, Cheng B, Tan M, Zhang Y, Cao Q, Lai X. Mechanistic insights into retinoic-acid treatment for autism in the improvement of social behavior: evidence from a multi omics study in rats. Neuropharmacology;2024 (Dec 4):110244.

BACKGROUND: Autism spectrum disorder (ASD) is a lifelong condition. It is characterized by complex etiologies, including disruptions in exogenous retinoic acid (RA) signaling, which may serve as an environmental risk factor. Targeting the RA pathway presents a promising therapeutic avenue, though the precise mechanisms remain to be elucidated. METHODS: Female Sprague-Dawley rats were treated with valproic acid (VPA) during pregnancy to induce an ASD model in their offspring. Some offspring received RA treatment postnatally. Social behavior and brain-functional connectivity were assessed using behavioral tests and functional magnetic resonance imaging (fMRI), respectively. Transcriptomics analysis and proteomics analysis of the hypothalamus identified differentially expressed genes (DEGs) and differentially expressed proteins (DEPs). These were intersected with ASD pathogenic genes (APGs) and ASD pathogenic proteins (APPs) to identify differentially expressed APGs (DE-APGs) and differentially expressed APPs (DE-APPs), which were validated by real-time reverse transcription-quantitative polymerase chain reaction (RT-qPCR) and western blotting. Analyses of enrichment of signaling pathways were done using the Kyoto Encyclopedia of Genes and Genomes database. RESULTS: RA treatment significantly improved social behaviors and revealed distinct patterns of hypo- and hyper-connectivity across various brain regions, with notable changes involving the hypothalamus and facial nerve. Differential analysis revealed 4165 DEGs (DEG 1) and 329 DEPs (DEP 1) between control and VPA groups, and 1610 DEGs (DEG 2) and 197 DEPs (DEP 2) between VPA and RA supplementation (RAS) groups. Twenty-two DE-APGs and five DE-APPs were identified, with key associations found between proteins such as Tbl1xr1 and Myo5a and >13 genes including Nrxn1, Cacna1e, and Gabrb2. Significant alterations in DE-APGs, including Grin2b, Nrxn1, Cacna1e, and Gabrb2, were confirmed via real-time RT-PCR and western blotting. In addition, 22 key signaling pathways were enriched in DEPs and DEGs. CONCLUSION: RA supplementation in ASD rats induced by VPA may ameliorate social deficits and modulated functional connectivity, especially in the hypothalamus and facial nerve regions. This suggests potential therapeutic benefits for neural circuitry dysregulation in ASD. Additionally, RA altered critical gene and protein expressions in hypothalamus, implicating its role in modulating key signaling pathways to mitigate social deficits in ASD. This study provides new insights into the molecular mechanisms of ASD and supports the development of novel therapeutic strategies.

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