1. Almanaa TN, Alwetaid MY, Bakheet SA, Attia SM, Ansari MA, Nadeem A, Ahmad SF. Aflatoxin B(1) exposure deteriorates immune abnormalities in a BTBR T(+) Itpr3(tf)/J mouse model of autism by increasing inflammatory mediators’ production in CD19-expressing cells. J Neuroimmunol;2024 (Jun 15);391:578365.

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficiencies in communication, repetitive and stereotyped behavioral patterns, and difficulties in reciprocal social engagement. The presence of immunological dysfunction in ASD has been well established. Aflatoxin B(1) (AFB(1)) is a prevalent mycotoxin found in food and feed, causing immune toxicity and hepatotoxicity. AFB(1) is significantly elevated in several regions around the globe. Existing research indicates that prolonged exposure to AFB(1) results in neurological problems. The BTBR T(+) Itpr3(tf/)J (BTBR) mice, which were used as an autism model, exhibit the primary behavioral traits that define ASD, such as repeated, stereotyped behaviors and impaired social interactions. The main objective of this work was to assess the toxic impact of AFB(1) in BTBR mice. This work aimed to examine the effects of AFB(1) on the expression of Notch-1, IL-6, MCP-1, iNOS, GM-CSF, and NF-κB p65 by CD19(+) B cells in the spleen of the BTBR using flow cytometry. We also verified the impact of AFB(1) exposure on the mRNA expression levels of Notch-1, IL-6, MCP-1, iNOS, GM-CSF, and NF-κB p65 in the brain of BTBR mice using real-time PCR. The findings of our study showed that the mice treated with AFB(1) in the BTBR group exhibited a substantial increase in the presence of CD19(+)Notch-1(+), CD19(+)IL-6(+), CD19(+)MCP-1(+), CD19(+)iNOS(+), CD19(+)GM-CSF(+), and CD19(+)NF-κB p65(+) compared to the mice in the BTBR group that were treated with saline. Our findings also confirmed that administering AFB(1) to BTBR mice leads to elevated mRNA expression levels of Notch-1, IL-6, MCP-1, iNOS, GM-CSF, and NF-κB p65 in the brain, in comparison to BTBR mice treated with saline. The data highlight that exposure to AFB(1) worsens immunological abnormalities by increasing the expression of inflammatory mediators in BTBR mice.

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2. Choi JW, Oh J, Bennett DH, Calafat AM, Schmidt RJ, Shin HM. Prenatal exposure to per- and polyfluoroalkyl substances and child behavioral problems. Environ Res;2024 (Jun 15);251(Pt 1):118511.

BACKGROUND: Prenatal exposure to per- and polyfluoroalkyl substances (PFAS) may adversely affect child behaviors; however, findings of epidemiologic studies are inconsistent. We examined prenatal PFAS exposure in association with child behavioral problems. METHODS: Participants were 177 mother-child pairs from MARBLES (Markers of Autism Risk in Babies – Learning Early Signs), a cohort with elevated familial likelihood of autism spectrum disorder (ASD). We quantified nine PFAS in maternal serum (1-3 samples per mother) collected from the 1st to 3rd trimesters of pregnancy. Child behavioral problems were assessed at 3 years of age using the Child Behavior Checklist (CBCL), developed to test for various behavioral problems of children. We examined associations of the CBCL scores with individual PFAS concentrations and with their mixture using negative binomial regression and weighted quantile sum regression models. RESULTS: Higher prenatal perfluorononanoate (PFNA) concentrations were associated with higher scores of externalizing problems [β = 0.16, 95% CI (0.01, 0.32)] and aggressive behavior [β = 0.17 (0.01, 0.32)]. Higher PFNA, perfluorooctane sulfonate (PFOS), and perfluorodecanoate (PFDA) were associated with higher scores of sleep problems [β = 0.34 (0.15, 0.54) for PFNA, β = 0.20 (0.02, 0.37) for PFOS, and β = 0.19 (0.00, 0.37) for PFDA]. No significant associations observed for typically developing children, whereas PFOS, PFNA, and PFDA were associated with several behavioral problems among children diagnosed with ASD or other neurodevelopmental concerns. Exposure to a mixture of PFAS was associated with higher scores of sleep problems and aggressive behavior, mostly contributed by PFNA and PFDA. CONCLUSIONS: Our study showed that prenatal exposure to some PFAS could increase child behavioral problems at 3 years of age. However, our results should be interpreted with caution because we relied on data from a cohort with increased familial likelihood of ASD and thereby had more behavioral problems.

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3. Dong HW, Weiss K, Baugh K, Meadows MJ, Niswender CM, Neul JL. Potentiation of the muscarinic acetylcholine receptor 1 modulates neurophysiological features in a mouse model of Rett syndrome. Neurotherapeutics;2024 (Jun 15):e00384.

Rett syndrome (RTT) is a neurodevelopmental disorder primarily caused by mutations in the X chromosome-linked gene Methyl-CpG Binding Protein 2 (MECP2). Restoring MeCP2 expression after disease onset in a mouse model of RTT reverses phenotypes, providing hope for development of treatments for RTT. Translatable biomarkers of improvement and treatment responses have the potential to accelerate both preclinical and clinical evaluation of targeted therapies in RTT. Studies in people with and mouse models of RTT have identified neurophysiological features, such as auditory event-related potentials, that correlate with disease severity, suggesting that they could be useful as biomarkers of disease improvement or early treatment response. We recently demonstrated that treatment of RTT mice with a positive allosteric modulator (PAM) of muscarinic acetylcholine subtype 1 receptor (M(1)) improved phenotypes, suggesting that modulation of M(1) activity is a potential therapy in RTT. To evaluate whether neurophysiological features could be useful biomarkers to assess the effects of M(1) PAM treatment, we acutely administered the M(1) PAM VU0486846 (VU846) at doses of 1, 3, 10 and 30 mg/kg in wildtype and RTT mice. This resulted in an inverted U-shaped dose response with maximal improvement of AEP features at 3 mg/kg but with no marked effect on basal EEG power or epileptiform discharges in RTT mice and no significant changes in wildtype mice. These findings suggest that M(1) potentiation can improve neural circuit synchrony to auditory stimuli in RTT mice and that neurophysiological features have potential as pharmacodynamic or treatment-responsive biomarkers for preclinical and clinical evaluation of putative therapies in RTT.

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4. Elias-Mas A, Wang JY, Rodríguez-Revenga L, Kim K, Tassone F, Hessl D, Rivera SM, Hagerman R. Enlarged perivascular spaces and their association with motor, cognition, MRI markers and cerebrovascular risk factors in male fragile X premutation carriers. J Neurol Sci;2024 (Jun 15);461:123056.

FMR1 premutation carriers (55-200 CGG repeats) are at risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disorder associated with motor and cognitive impairment. Bilateral hyperintensities of the middle cerebellar peduncles (MCP sign) are the major radiological hallmarks of FXTAS. In the general population, enlarged perivascular spaces (PVS) are biomarkers of small vessel disease and glymphatic dysfunction and are associated with cognitive decline. Our aim was to determine if premutation carriers show higher ratings of PVS than controls and whether enlarged PVS are associated with motor and cognitive impairment, MRI features of neurodegeneration, cerebrovascular risk factors and CGG repeat length. We evaluated 655 MRIs (1-10 visits/participant) from 229 carriers (164 with FXTAS and 65 without FXTAS) and 133 controls. PVS in the basal ganglia (BG-EPVS), centrum semiovale, and midbrain were evaluated with a semiquantitative scale. Mixed-effects models were used for statistical analysis adjusting for age. In carriers with FXTAS, we revealed that (1) BG-PVS ratings were higher than those of controls and carriers without FXTAS; (2) BG-PVS severity was associated with brain atrophy, white matter hyperintensities, enlarged ventricles, FXTAS stage and abnormal gait; (3) age-related increase in BG-PVS was associated with cognitive dysfunction; and (4) PVS ratings of all three regions showed robust associations with CGG repeat length and were higher in carriers with the MCP sign than carriers without the sign. This study demonstrates clinical relevance of PVS in FXTAS especially in the basal ganglia region and suggests microangiopathy and dysfunctional cerebrospinal fluid circulation in FXTAS physiopathology.

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5. Gao P, Zhou C, Ruan Z, Zhang Z, Fang X. Association between caregiver-child interaction and autistic-like behaviors at around three years of age. J Affect Disord;2024 (Jun 15);355:326-332.

BACKGROUND: The prevalence of autistic-like behaviors is increasing worldwide, both in developed and developing countries. With a high disease burden and complex developmental causes, there has been much interest in the etiology of the disease, and there is a lack of evidence on the relationship between caregiver-child interaction and autistic-like behaviors. AIM/OBJECTIVE: This study investigated the association between caregiver-child interaction and children’s autistic-like behaviors during early childhood. METHOD: The subjects of this study were 171 kindergartens selected from the Longhua Child Cohort Study (LCCS), and a total of 40,237 children around the age of three were included. Sociodemographic characteristics, family income, and frequency of interaction between caregivers and children were all filled in by the child’s primary caregiver, and the adapted Chinese Autism Behavior Checklist was used to assess children’s autism-like behaviors. Tobit Regression and ancovariance analysis (ANCOVA) were used to measure the relationship between caregiver-child interactions (family and social activities) and autism-like behaviors, with a two-tailed p value of <0.05 being significant. RESULTS: Tobit regression analyses found that in the 0-1 year age group, different frequencies of singing activities by caregivers with children (<3 times per week, 3-6 times per week, 6 times or more per week) were significantly negatively associated with autistic-like behaviors in a dose-response manner (B values of -0.323, -0.381, -0.544, all p < 0.0001); in the 1-3 year age group, different frequencies of reading interactions by caregivers with children (<3 times per week, 3-6 times per week, 6 times or more per week) were also significantly negatively associated with autistic-like behaviors in a dose-response manner (B values of -0.388, -0.632, -0.956, all p < 0.0001), and similar associations were found in singing and chatting interactions. CONCLUSIONS: Our findings suggest that higher frequencies of early caregiver-child interactions are associated with lower levers of autistic-like behaviors in children around the age of three years.

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6. Georgiou G, Demetriou CA, Fanti KA. Exploring the Unique and Interactive Effects Between Callous-Unemotional and Autistic Traits with Parental Practices, Care, and Distress in a Community Sample. Res Child Adolesc Psychopathol;2024 (Jun 15)

Parental practices and stress are associated with both CU and autistic traits, with parents of children with these traits facing challenges that other parents do not encounter. However, the majority of available studies focused mainly on the unique effects of CU and autistic traits with parental stress and practices without exploring their interaction. The current study examines the distinct associations and interactions between CU and autistic traits with parental practices (parental involvement, poor monitoring, inconsistent discipline, and corporal punishment), care, and distress after considering the effect of conduct problems (CPs), age and sex in a Greek-Cypriot sample (N = 146, Mage = 7.30, SD = 1.43). Hierarchical multiple regression analysis revealed that children with CU traits were more likely to experience negative parenting, while parents showed heightened levels of distress. Notably, the study found no association between CU traits and positive parental practices. Further analysis indicated no significant relation between autistic traits and interactions with the target variables, signifying that these traits are not associated with difficulties in parenting and distress. No sex differences were found in all analyses. Age was negatively significant only in relation to parental distress These findings provide valuable insights into the impact of CU traits and underscore the need for additional studies investigating the impact of autistic traits, possibly within clinical samples.

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7. Gregorich M, Simpson SL, Heinze G. Flexible parametrization of graph-theoretical features from individual-specific networks for prediction. Stat Med;2024 (Jun 15);43(13):2592-2606.

Statistical techniques are needed to analyze data structures with complex dependencies such that clinically useful information can be extracted. Individual-specific networks, which capture dependencies in complex biological systems, are often summarized by graph-theoretical features. These features, which lend themselves to outcome modeling, can be subject to high variability due to arbitrary decisions in network inference and noise. Correlation-based adjacency matrices often need to be sparsified before meaningful graph-theoretical features can be extracted, requiring the data analysts to determine an optimal threshold. To address this issue, we propose to incorporate a flexible weighting function over the full range of possible thresholds to capture the variability of graph-theoretical features over the threshold domain. The potential of this approach, which extends concepts from functional data analysis to a graph-theoretical setting, is explored in a plasmode simulation study using real functional magnetic resonance imaging (fMRI) data from the Autism Brain Imaging Data Exchange (ABIDE) Preprocessed initiative. The simulations show that our modeling approach yields accurate estimates of the functional form of the weight function, improves inference efficiency, and achieves a comparable or reduced root mean square prediction error compared to competitor modeling approaches. This assertion holds true in settings where both complex functional forms underlie the outcome-generating process and a universal threshold value is employed. We demonstrate the practical utility of our approach by using resting-state fMRI data to predict biological age in children. Our study establishes the flexible modeling approach as a statistically principled, serious competitor to ad-hoc methods with superior performance.

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8. Guan Q, Garg R, McCormack D, Lunsky Y, Tadrous M, Campbell T, Gomes T. Impact of COVID-19 on psychoactive medication use among individuals with intellectual and developmental disabilities in Ontario, Canada: A repeated cross-sectional study. Disabil Health J;2024 (Jun 12):101649.

BACKGROUND: Evidence for worsening mental health among individuals with intellectual and developmental disabilities (IDD) during COVID-19 sparked concerns for increased use of psychoactive medications. OBJECTIVE: To examine the impact of COVID-19 on psychoactive medication use and clinical monitoring among individuals with IDD in Ontario, Canada. METHODS: We conducted a repeated cross-sectional study among individuals with IDD and examined weekly trends for psychoactive medication dispensing and outpatient physician visits among those prescribed psychoactive medications between April 7, 2019, and March 25, 2023. We used interventional autoregressive integrated moving average models to determine the impact of the declaration of emergency for COVID-19 (March 17, 2020) on the aforementioned trends. RESULTS: The declaration of emergency for COVID-19 did not significantly impact psychoactive medication use among individuals with IDD. Provision of clinical monitoring remained relatively stable, apart from a short-term decline in the weekly rate of outpatient physician visits following the declaration of emergency for COVID-19 (step estimate: 21.26 per 1000 individuals [p < 0.01]; ramp estimate: 0.88 per 1000 individuals [p = 0.01]). When stratified by mode of delivery, there was a significant shift towards virtual care (step estimate: 78.80 per 1000 individuals; p < 0.01). The weekly rate of in-person physician visits gradually increased, returning to rates observed prior to the COVID-19 pandemic in January 2023. CONCLUSION: Although access to clinical care remained relatively stable, the shift towards virtual care may have negatively impacted those who encounter challenges communicating via virtual mediums. Future research is required to identify the support systems necessary for individuals with IDD during virtual health care interactions.

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9. Haddon JE, Titherage D, Heckenast JR, Carter J, Owen MJ, Hall J, Wilkinson LS, Jones MW. Linking haploinsufficiency of the autism- and schizophrenia-associated gene Cyfip1 with striatal-limbic-cortical network dysfunction and cognitive inflexibility. Transl Psychiatry;2024 (Jun 14);14(1):256.

Impaired behavioural flexibility is a core feature of neuropsychiatric disorders and is associated with underlying dysfunction of fronto-striatal circuitry. Reduced dosage of Cyfip1 is a risk factor for neuropsychiatric disorder, as evidenced by its involvement in the 15q11.2 (BP1-BP2) copy number variant: deletion carriers are haploinsufficient for CYFIP1 and exhibit a two- to four-fold increased risk of schizophrenia, autism and/or intellectual disability. Here, we model the contributions of Cyfip1 to behavioural flexibility and related fronto-striatal neural network function using a recently developed haploinsufficient, heterozygous knockout rat line. Using multi-site local field potential (LFP) recordings during resting state, we show that Cyfip1 heterozygous rats (Cyfip1(+/-)) harbor disrupted network activity spanning medial prefrontal cortex, hippocampal CA1 and ventral striatum. In particular, Cyfip1(+/-) rats showed reduced influence of nucleus accumbens and increased dominance of prefrontal and hippocampal inputs, compared to wildtype controls. Adult Cyfip1(+/-) rats were able to learn a single cue-response association, yet unable to learn a conditional discrimination task that engages fronto-striatal interactions during flexible pairing of different levers and cue combinations. Together, these results implicate Cyfip1 in development or maintenance of cortico-limbic-striatal network integrity, further supporting the hypothesis that alterations in this circuitry contribute to behavioural inflexibility observed in neuropsychiatric diseases including schizophrenia and autism.

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10. Hamsho N, Collier-Meek M, McAvoy H, Blacher J, Eisenhower A. Relationships of paraeducators and teachers with their autistic students. J Sch Psychol;2024 (Aug);105:101321.

Paraeducators play an important role in the classroom experiences of many autistic students. Although previous research has indicated that autistic students typically have strained relationships with their teachers, little is known about their relationships with paraeducators. We examined relationship quality reported by teachers (N = 171) and paraeducators (N = 28) with their elementary-age autistic students (IQ ≥ 50, ages 4-8 years, Grades PreK-3). Paraeducators reported strained relationships with their autistic students relative to normative means. This was especially apparent when compared with teacher report as paraeducators reported significantly lower overall relationship quality with their autistic students marked by higher conflict and dependency, yet similar reports of closeness. Indirect effect analysis indicated that higher conflict between paraeducators and their autistic students was accounted for by their fewer years of classroom experience compared to teachers. These findings should encourage school psychologists to consider the systemic factors likely contributing to paraeducators’ fewer years of experiences and, as members of special education teams, use a consultative framework to provide supports needed to foster positive relationships between paraeducators and their autistic students.

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11. Kearns RJ, Nelson SM, Rex S. Epidural analgesia in labour: separating fact from fiction for autism and neurodevelopment. Br J Anaesth;2024 (Jun 13)

Having epidural analgesia in labour has been associated with a later diagnosis of autism spectrum disorder in the offspring, resulting in concerns about childhood wellbeing. Neurodevelopmental changes are inconsistently reported in the literature, creating challenges in the interpretation of these findings. Here we explore the limitations of the current evidence base, and why findings differ between studies, concluding that the current body of evidence does not support a causal association between use of epidural analgesia in labour and autism spectrum disorder.

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12. Leow KQ, Tonta MA, Lu J, Coleman HA, Parkington HC. Towards understanding sex differences in autism spectrum disorders. Brain Res;2024 (Jun 15);1833:148877.

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by social deficits, repetitive behaviours and lack of empathy. Its significant genetic heritability and potential comorbidities often lead to diagnostic and therapeutic challenges. This review addresses the biological basis of ASD, focusing on the sex differences in gene expression and hormonal influences. ASD is more commonly diagnosed in males at a ratio of 4:1, indicating a potential oversight in female-specific ASD research and a risk of underdiagnosis in females. We consider how ASD manifests differently across sexes by exploring differential gene expression in female and male brains and consider how variations in steroid hormones influence ASD characteristics. Synaptic function, including excitation/inhibition ratio imbalance, is influenced by gene mutations and this is explored as a key factor in the cognitive and behavioural manifestations of ASD. We also discuss the role of micro RNAs (miRNAs) and highlight a novel mutation in miRNA-873, which affects a suite of key synaptic genes, neurexin, neuroligin, SHANK and post-synaptic density proteins, implicated in the pathology of ASD. Our review suggests that genetic predisposition, sex differences in brain gene expression, and hormonal factors significantly contribute to the presentation, identification and severity of ASD, necessitating sex-specific considerations in diagnosis and treatments. These findings advocate for personalized interventions to improve the outcomes for individuals with ASD.

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13. Manning C. EXPRESS: Visual processing and decision-making in autism and dyslexia: Insights from cross-syndrome approaches. Q J Exp Psychol (Hove);2024 (Jun 14):17470218241264627.

Atypical visual processing has been reported in developmental conditions like autism and dyslexia, and some accounts propose a causal role for visual processing in the development of these conditions. However, few studies make direct comparisons between conditions, or use sufficiently sensitive methods, meaning that it is hard to say whether atypical visual processing tells us anything specific about these conditions, or whether it reflects a more general marker of atypical development. Here I review findings from two computational modelling approaches (equivalent noise and diffusion modelling) and related electroencephalography (EEG) indices which we have applied to data from autistic, dyslexic and typically developing children to reveal how the component processes involved in visual processing and decision-making are altered in autism and dyslexia. The results identify both areas of convergence and divergence in autistic and dyslexic children’s visual processing and decision-making, with implications for influential theoretical accounts such as weak central coherence, increased internal noise and dorsal-stream vulnerability. In both sets of studies, we also see considerable variability across children in all three groups. To better understand this variability, and further understand the convergence and divergence identified between conditions, future studies would benefit from studying how the component processes reviewed here relate to transdiagnostic dimensions, which will also give insights into individual differences in visual processing and decision-making more generally.

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14. Sadhwani A, Powers S, Wheeler A, Miller H, Potter SN, Peters SU, Bacino CA, Skinner SA, Wink LK, Erickson CA, Bird LM, Tan WH. Developmental milestones and daily living skills in individuals with Angelman syndrome. J Neurodev Disord;2024 (Jun 15);16(1):32.

BACKGROUND: Angelman syndrome (AS) is a neurodevelopmental disorder associated with severe global developmental delay. However, the ages at which different developmental skills are achieved in these individuals remain unclear. We seek to determine the probability and the age of acquisition of specific developmental milestones and daily living skills in individuals with AS across the different molecular subtypes, viz. class I deletion, class II deletion, uniparental disomy, imprinting defect, and UBE3A variants. METHODS: Caregivers participating in a longitudinal multicenter Angelman Syndrome Natural History Study completed a questionnaire regarding the age at which their children achieved specific developmental milestones and daily living skills. The Cox Proportional Hazard model was applied to analyze differences in the probability of achievement of skills at various ages among five molecular subtypes of AS. RESULTS: Almost all individuals, regardless of molecular subtype, were able to walk with support by five years of age. By age 15, those with a deletion had at least a 50% probability of acquiring 17 out of 30 skills compared to 25 out of 30 skills among those without a deletion. Overall, fine and gross motor skills such as holding and reaching for small objects, sitting, and walking with support were achieved within a fairly narrow range of ages, while toileting, feeding, and hygiene skills tend to have greater variability in the ages at which these skills were achieved. Those without a deletion had a higher probability (25-92%) of achieving daily living skills such as independently toileting and dressing compared to those with a deletion (0-13%). Across all molecular subtypes, there was a low probability of achieving independence in bathing and brushing teeth. CONCLUSION: Individuals with AS without a deletion are more likely to achieve developmental milestones and daily living skills at an earlier age than those with a deletion. Many individuals with AS are unable to achieve daily living skills necessary for independent self-care.

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15. Wardell V, Stewardson CI, Hunsche MC, Chen FS, Rights JD, Palombo DJ, Kerns CM. Are autistic traits associated with a social-emotional memory bias?. Behav Res Ther;2024 (Jun 4);180:104578.

Autistic traits are associated with differential processing of emotional and social cues. By contrast little is known about the relationship of autistic traits to socio-emotional memory, though research suggests an integral relationship between episodic memory processes and psychosocial well-being. Using an experimental paradigm, we tested if autistic traits moderate the effects of negative emotion and social cues on episodic memory (i.e. memory for past events). Young adults (N = 706) with varied levels of self-reported autistic traits (24% in clinical range) encoded images stratified by emotion (negative, neutral) and social cues (social, non-social) alongside a neutral object. After 24 h, item memory for images and associative memory for objects was tested. For item memory, after controlling for anxiety, a small effect emerged whereby a memory-enhancing effect of social cues was reduced as autistic traits increased. For associative memory, memory for pairings between neutral, but not negative, images reduced as autistic traits increased. Results suggest autistic traits are associated with reduced ability to bind neutral items together in memory, potentially impeding nuanced appraisals of past experience. This bias toward more negative, less nuanced memories of past experience may represent a cognitive vulnerability to social and mental health challenges commonly associated with autistic traits and a potential intervention target.

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16. Yang Y, Song P, Wang Y. Assessing the impact of repetitive transcranial magnetic stimulation on effective connectivity in autism spectrum disorder: An initial exploration using TMS-EEG analysis. Heliyon;2024 (Jun 15);10(11):e31746.

Initial indications propose that repetitive transcranial magnetic stimulation (rTMS) could mitigate clinical manifestations in patients with autism spectrum disorder (ASD). Nevertheless, the precise mechanisms responsible for these therapeutic and behavioral outcomes remain elusive. We examined alterations in effective connectivity induced by rTMS using concurrent transcranial magnetic stimulation and electroencephalography (TMS-EEG) in children with ASD. TMS-EEG data were acquired from 12 children diagnosed with ASD both before and following rTMS treatment. The rTMS intervention regimen included delivering 5-s trains at a frequency of 15 Hz, with 10-min intervals between trains, targeting the left parietal lobe. This was conducted on each consecutive weekday over 3 weeks, totaling 15 sessions. The dynamic EEG network analysis revealed that following the rTMS intervention, long-range feedback connections within the brains of ASD patients were strengthened (e.g., frontal to parietal regions, frontal to occipital regions, and frontal to posterior temporal regions), and short-range connections were weakened (e.g., between the bilateral occipital regions, and between the occipital and posterior temporal regions). In alignment with alterations in network connectivity, there was a corresponding amelioration in fundamental ASD symptoms, as assessed through clinical scales post-treatment. According to our findings, people with ASD may have increased long-range frontal-posterior feedback connection on application of rTMS to the parietal lobe.

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17. Yekezare M, Handley P, Clough S. Diagnostic overshadowing: self-injurious behaviour as a manifestation of pain in the head and neck. Br Dent J;2024 (Jun);236(11):876-880.

In the healthcare domain, diagnostic overshadowing is a concerning issue involving the erroneous attribution of physical symptoms to a patient’s mental health, behavioural intricacies, or pre-existing disabilities. Individuals facing learning and communication challenges are particularly susceptible to this phenomenon, struggling to articulate or comprehend their experienced symptoms. Likewise, patients with autism spectrum disorder can have an escalated risk due to possible challenges in interpreting bodily cues. This article delves into the specialised care required for individuals with learning disabilities and/or autism, highlighting the pervasive risk of diagnostic overshadowing and the potential manifestation of pain as self-injurious behaviour in these patient groups. By underscoring the need to mitigate diagnostic overshadowing within dental practice, we advocate for reasonable adjustments in care delivery and comprehensive education of the dental team. Proficient tools for pain assessment and effective communication are emphasised to collectively improve the healthcare experience for these vulnerable patient cohorts.

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18. Zhang J, Weissenkampen JD, Kember RL, Grove J, Børglum AD, Robinson EB, Brodkin ES, Almasy L, Bucan M, Sebro R. Phenotypic and ancestry-related assortative mating in autism. Mol Autism;2024 (Jun 14);15(1):27.

BACKGROUND: Positive assortative mating (AM) in several neuropsychiatric traits, including autism, has been noted. However, it is unknown whether the pattern of AM is different in phenotypically defined autism subgroups [e.g., autism with and without intellectually disability (ID)]. It is also unclear what proportion of the phenotypic AM can be explained by the genetic similarity between parents of children with an autism diagnosis, and the consequences of AM on the genetic structure of the population. METHODS: To address these questions, we analyzed two family-based autism collections: the Simons Foundation Powering Autism Research for Knowledge (SPARK) (1575 families) and the Simons Simplex Collection (SSC) (2283 families). RESULTS: We found a similar degree of phenotypic and ancestry-related AM in parents of children with an autism diagnosis regardless of the presence of ID. We did not find evidence of AM for autism based on autism polygenic scores (PGS) (at a threshold of |r|> 0.1). The adjustment of ancestry-related AM or autism PGS accounted for only 0.3-4% of the fractional change in the estimate of the phenotypic AM. The ancestry-related AM introduced higher long-range linkage disequilibrium (LD) between single nucleotide polymorphisms (SNPs) on different chromosomes that are highly ancestry-informative compared to SNPs that are less ancestry-informative (D(2) on the order of 1 × 10(-5)). LIMITATIONS: We only analyzed participants of European ancestry, limiting the generalizability of our results to individuals of non-European ancestry. SPARK and SSC were both multicenter studies. Therefore, there could be ancestry-related AM in SPARK and SSC due to geographic stratification. The study participants from each site were unknown, so we were unable to evaluate for geographic stratification. CONCLUSIONS: This study showed similar patterns of AM in autism with and without ID, and demonstrated that the common genetic influences of autism are likely relevant to both autism groups. The adjustment of ancestry-related AM and autism PGS accounted for < 5% of the fractional change in the estimate of the phenotypic AM. Future studies are needed to evaluate if the small increase of long-range LD induced by ancestry-related AM has impact on the downstream analysis.

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