1. Al-Shaban FA, Ghazal I, Thompson IR, Klingemier EW, Aldosari M, Al-Shammari H, Al-Faraj F, El-Hag S, Tolefat M, Ali M, Nasir B, Frazier TW. Development and validation of an Arabic language eye-tracking paradigm for the early screening and diagnosis of autism spectrum disorders in Qatar. Autism research : official journal of the International Society for Autism Research. 2023.

Abnormal eye gaze is a hallmark characteristic of autism spectrum disorder (ASD). The primary aim of the present research was to develop an Arabic version of an objective measure of ASD, the « autism index » (AI), based on eye gaze tracking to social and nonsocial stimuli validated initially in the United States. The initial phase of this study included the translation of English language eye-tracking stimuli into stimuli appropriate for an Arabic-speaking culture. During the second phase, we tested it on a total of 144 children with ASD, and 96 controls. The AI had excellent internal consistency and test-retest reliability. Moreover, the AI showed good differentiation of ASD from control cases (AUC = 0.730, SE = 0.035). The AI was significantly positively correlated with SCQ total raw scores (r = 0.46, p < 0.001). ADOS-2 scores were only available in the ASD group and did not show a significant relationship with AI scores (r = 0.10, p = 0.348), likely due to the restricted range. The AI, when implemented using Arabic-translated stimuli in a Qatari sample, showed good diagnostic differentiation and a strong correlation with parent-reported ASD symptoms. Thus, the AI appears to have cross-cultural validity and may be useful as a diagnostic aide to inform clinical judgment and track ASD symptom levels as part of the evaluation process.

Lien vers le texte intégral (Open Access ou abonnement)

2. Cairney BE, West SH, Haebig E, Cox CR, Lucas HD. Interpretations of meaningful and ambiguous hand gestures in autistic and non-autistic adults: A norming study. Behavior research methods. 2023.

Gestures are ubiquitous in human communication, and a growing but inconsistent body of research suggests that people with autism spectrum disorder (ASD) may process co-speech gestures differently from neurotypical individuals. To facilitate research on this topic, we created a database of 162 gesture videos that have been normed for comprehensibility by both autistic and non-autistic raters. These videos portray an actor performing silent gestures that range from highly meaningful (e.g., iconic gestures) to ambiguous or meaningless. Each video was rated for meaningfulness and given a one-word descriptor by 40 autistic and 40 non-autistic adults, and analyses were conducted to assess the level of within- and across-group agreement. Across gestures, the meaningfulness ratings provided by raters with and without ASD correlated at r > 0.90, indicating a very high level of agreement. Overall, autistic raters produced a more diverse set of verbal labels for each gesture than did non-autistic raters. However, measures of within-gesture semantic similarity among the responses provided by each group did not differ, suggesting that increased variability within the ASD group may have occurred at the lexical rather than semantic level. This study is the first to compare gesture naming between autistic and non-autistic individuals, and the resulting dataset is the first gesture stimulus set for which both groups were equally represented in the norming process. This database also has broad applicability to other areas of research related to gesture processing and comprehension. The video database and accompanying norming data are available on the Open Science Framework.

Lien vers le texte intégral (Open Access ou abonnement)

3. Courreges A, Kouros CD, Ekas NV, Levy S. Remote vs. In-person Schooling during the COVID-19 Pandemic and Internalizing Symptoms among Children on the Autism Spectrum. Research in autism spectrum disorders. 2023; 109.

BACKGROUND: Children on the autism spectrum encountered interruptions to their education due to the COVID-19 pandemic (White et al., 2021). This study examined the extent to which autistic children’s anxiety and depressive symptoms during the pandemic were associated with the school format they attended in October 2020 (remote, in-person/hybrid, homeschool), controlling for their pre-pandemic symptoms. Pre-pandemic peer victimization and autism symptom characteristics were tested as moderators. METHOD: Participants were 81 verbally-fluent autistic children (Mage = 14.71 years, 77.8% males), without an intellectual disability, and their mothers; families were part of an ongoing, longitudinal study that began before the pandemic. RESULTS: School format did not significantly predict children’s anxiety or depressive symptoms. Results indicated that the only significant predictors of children’s anxiety and depressive symptoms during the pandemic were their pre-pandemic symptom levels. CONCLUSIONS: School format did not significantly contribute to variability in children’s anxiety and depressive symptoms during the pandemic, over and above their pre-pandemic symptoms. The results contribute quantitative findings to the growing body of research on pandemic-related effects on autistic children, and underscore the need to account for pre-pandemic child functioning when drawing conclusions about pandemic-level effects.

Lien vers le texte intégral (Open Access ou abonnement)

4. Fipp-Rosenfield HL, Levy RS, Grauzer JM, Kaat A, Roberts MY. Autistic Children’s Irritability During Social Communication Assessments. American journal of speech-language pathology. 2023: 1-9.

PURPOSE: Accurate measurement of autistic children’s social communication is critical for assessing skills, setting intervention goals, evaluating change over time, determining service eligibility, and determining classroom placement. There are various types of assessments, some of which use specific tasks to elicit social communication. Structured tasks may frustrate children, inadvertently elicit irritability, and have a cascading effect on their ability to communicate. To date, no studies have evaluated how differing types of social communication assessments may exacerbate children’s irritability and impact assessment scores. We examined the extent to which (a) social communication assessment type (structured vs. naturalistic) impacts autistic children’s irritability and (b) child irritability is associated with social communication scores. METHOD: Autistic toddlers (n = 114, M(age) = 33.09 months, SD = 6.15) completed the Communication and Symbolic Behavior Scales (CSBS; structured) and a 10-min play-based mother-child interaction (MCX; naturalistic). Child irritability was scored on both assessments using a global rating scale of 0-15. RESULTS: Child irritability during the CSBS was significantly higher than during the MCX (V = 4892, p < .001, r = .68). Higher irritability was associated with lower CSBS social communication scores (B = -0.05, p = .03), but not MCX scores (B = 0.04, p = .13; Theil's F = 6.92, p = .009). CONCLUSIONS: Our findings suggest that the CSBS may pose unique challenges for autistic children, as it led to higher rates of irritability and negatively affected children's social communication scores. Evaluating the association between assessment type and irritability supports the complete characterization of autistic children's experience during assessments and clinicians in obtaining a more representative measure of social communication.

Lien vers le texte intégral (Open Access ou abonnement)

5. Gur A, Soffer M, Blanck PD, Quinn G, Rimmerman A. Pre- and Post-COVID-19 Outcomes for Israelis With Intellectual and Developmental Disabilities in the Community. Intellectual and developmental disabilities. 2023; 61(6): 454-67.

This study is among the first pre-post examinations to explore differences in subjective well-being, adaptive and maladaptive behavior, close relationships, community integration, family members’ satisfaction with residential and community living settings, and family contact before and after the COVID-19 outbreak. Participants demonstrated better life satisfaction and adaptive behavior before COVID-19 than after COVID-19. Participants reported closer relationships with family members and peers before COVID-19 and closer relationships with staff members after COVID-19. The findings reveal mixed, although mostly negative, effects of the pandemic on people with intellectual and developmental disabilities in the community in Israel, in accord with extant comparative research.

Lien vers le texte intégral (Open Access ou abonnement)

6. Hermans RA, Storm AEM, Kloosterboer SM, Hillegers MHJ, Koch BCP, Dierckx B, de Winter BCM. Therapeutic Drug Monitoring to Optimize Risperidone Treatment in Children with Autism Spectrum Disorder. Therapeutic drug monitoring. 2023.

BACKGROUND: Risperidone is an atypical antipsychotic drug used to treat irritability and aggression in children and adolescents with autism spectrum disorder. In an earlier study, the sum trough concentration of risperidone and its metabolite (9-hydroxyrisperidone) was positively correlated with weight gain and effectiveness. The aim of this study was to determine the therapeutic window for risperidone sum trough concentrations that balances weight gain with treatment effectiveness in this population. In addition, the effect of therapeutic drug monitoring (TDM) on treatment optimization was simulated. METHODS: In a retrospective cohort (n = 24 children), the target window for risperidone leading to the least increase in body mass index z-scores while retaining effectiveness as measured by the irritability subscale of the Aberrant Behavior Checklist was determined using receiver operating curve analysis. This target range was used to simulate the effect of TDM using a population PK model implemented in the software platform InsightRX. Dosing advice was based on plasma trough concentrations and the dose administered at 12 weeks to simulate whether more children would be on target at 24 weeks after the start of treatment. RESULTS: A risperidone sum trough target range of 3.5-7.0 mcg/L would minimize increase in body mass index z-score and optimize effectiveness. Dosing advice using TDM and a population PK model would lead to a larger proportion of children achieving the target concentration range (62.5% versus 16.7%). CONCLUSIONS: TDM may be a useful tool for optimizing risperidone treatment in children and adolescents with autism spectrum disorder.

Lien vers le texte intégral (Open Access ou abonnement)

7. Inge KJ, Avellone L, Wehman P, Broda M, Joy J. Effects of Customized Employment on the Independence of Youth With Intellectual and Developmental Disabilities. Intellectual and developmental disabilities. 2023; 61(6): 481-91.

Participation in work during school is a known predictor of postsecondary employment for transition-age youth with intellectual and developmental disabilities (IDD). Recent research has demonstrated the benefits of work on skill development in major life domains. The purpose of this study was to examine the impact of customized employment on the support needs of youth with IDD with a significant disability compared to those receiving treatment as usual. Findings indicated significant increases in independence in three specific domains for the treatment group versus control on the Supports Intensity Scale-Adult Version, including Home Living, Employment, and Protection and Advocacy. Findings suggest a therapeutic effect of work activities on growth and development in important life domains. Implications for future research, policy, and practice are discussed.

Lien vers le texte intégral (Open Access ou abonnement)

8. Kyselicová K, Dukonyová D, Belica I, Ballová DS, Jankovičová V, Ostatníková D. Fingerprint patterns in relation to an altered neurodevelopment in patients with autism spectrum disorder. Developmental psychobiology. 2023; 65(8): e22432.

Dermatoglyphic patterns are permanently established and matured before the 24th week of gestation. Their frequencies and localization might be a good indicator of developmental instability in individuals with an altered neurodevelopment and show potential as biomarkers of autism spectrum disorder (ASD). In this study, fingerprint pattern counts and fluctuating asymmetry in the distribution of patterns are compared between 67 boys diagnosed with ASD (aged 5.11 ± 2.51 years) and 83 control boys (aged 8.58 ± 3.14 years). Boys with ASD had a higher rate of discordance in their fingerprint patterns (p = .0026), showing more often bilateral differences in the occurrence of certain patterns. A chi-square test revealed that the difference in pattern frequencies between boys with ASD and the control group is the most significant in frequencies of whorls, tented arches, and ulnar loops. Boys with ASD have significantly fewer ulnar loops, significantly more whorls, and tented arches in the right hand. The achieved results are in favor of the suggestion that prenatal influences, which play a role in the development of bilateral differences in fingerprint patterns up to the 24th week of gestation, may be a potential cause of an altered neurodevelopment in ASD individuals.

Lien vers le texte intégral (Open Access ou abonnement)

9. Lefebvre A, Traut N, Pedoux A, Maruani A, Beggiato A, Elmaleh M, Germanaud D, Amestoy A, Ly-Le Moal M, Chatham C, Murtagh L, Bouvard M, Alisson M, Leboyer M, Bourgeron T, Toro R, Dumas G, Moreau C, Delorme R. Exploring the multidimensional nature of repetitive and restricted behaviors and interests (RRBI) in autism: neuroanatomical correlates and clinical implications. Molecular autism. 2023; 14(1): 45.

BACKGROUND: Repetitive and restricted behaviors and interests (RRBI) are core symptoms of autism with a complex entity and are commonly categorized into ‘motor-driven’ and ‘cognitively driven’. RRBI symptomatology depends on the individual’s clinical environment limiting the understanding of RRBI physiology, particularly their associated neuroanatomical structures. The complex RRBI heterogeneity needs to explore the whole RRBI spectrum by integrating the clinical context [autistic individuals, their relatives and typical developing (TD) individuals]. We hypothesized that different RRBI dimensions would emerge by exploring the whole spectrum of RRBI and that these dimensions are associated with neuroanatomical signatures-involving cortical and subcortical areas. METHOD: A sample of 792 individuals composed of 267 autistic subjects, their 370 first-degree relatives and 155 TD individuals was enrolled in the study. We assessed the whole patterns of RRBI in each individual by using the Repetitive Behavior Scale-Revised and the Yale-Brown Obsessive Compulsive Scale. We estimated brain volumes using MRI scanner for a subsample of the subjects (n = 152, 42 ASD, 89 relatives and 13 TD). We first investigated the dimensionality of RRBI by performing a principal component analysis on all items of these scales and included all the sampling population. We then explored the relationship between RRBI-derived factors with brain volumes using linear regression models. RESULTS: We identified 3 main factors (with 30.3% of the RRBI cumulative variance): Factor 1 (FA1, 12.7%) reflected mainly the ‘motor-driven’ RRBI symptoms; Factor 2 and 3 (respectively, 8.8% and 7.9%) gathered mainly Y-BOCS related items and represented the ‘cognitively driven’ RRBI symptoms. These three factors were significantly associated with the right/left putamen volumes but with opposite effects: FA1 was negatively associated with an increased volume of the right/left putamen conversely to FA2 and FA3 (all uncorrected p < 0.05). FA1 was negatively associated with the left amygdala (uncorrected p < 0.05), and FA2 was positively associated with the left parietal structure (uncorrected p = 0.001). CONCLUSION: Our results suggested 3 coherent RRBI dimensions involving the putamen commonly and other structures according to the RRBI dimension. The exploration of the putamen's integrative role in RSBI needs to be strengthened in further studies.

Lien vers le texte intégral (Open Access ou abonnement)

10. Li H, Liu C, Huang S, Wang X, Cao M, Gu T, Ou X, Pan S, Lin Z, Wang X, Zhu Y, Jing J. Multi-omics analyses demonstrate the modulating role of gut microbiota on the associations of unbalanced dietary intake with gastrointestinal symptoms in children with autism spectrum disorder. Gut microbes. 2023; 15(2): 2281350.

Our previous work revealed that unbalanced dietary intake was an important independent factor associated with constipation and gastrointestinal (GI) symptoms in children with autism spectrum disorder (ASD). Growing evidence has shown the alterations in the gut microbiota and gut microbiota-derived metabolites in ASD. However, how the altered microbiota might affect the associations between unbalanced diets and GI symptoms in ASD remains unknown. We analyzed microbiome and metabolomics data in 90 ASD and 90 typically developing (TD) children based on 16S rRNA and untargeted metabolomics, together with dietary intake and GI symptoms assessment. We found that there existed 11 altered gut microbiota (FDR-corrected P-value <0.05) and 397 altered metabolites (P-value <0.05) in children with ASD compared with TD children. Among the 11 altered microbiota, the Turicibacter, Coprococcus 1, and Lachnospiraceae FCS020 group were positively correlated with constipation (FDR-corrected P-value <0.25). The Eggerthellaceae was positively correlated with total GI symptoms (FDR-corrected P-value <0.25). More importantly, three increased microbiota including Turicibacter, Coprococcus 1, and Eggerthellaceae positively modulated the associations of unbalanced dietary intake with constipation and total GI symptoms, and the decreased Clostridium sp. BR31 negatively modulated their associations in ASD children (P-value <0.05). Together, the altered microbiota strengthens the relationship between unbalanced dietary intake and GI symptoms. Among the altered metabolites, ten metabolites derived from microbiota (Turicibacter, Coprococcus 1, Eggerthellaceae, and Clostridium sp. BR31) were screened out, enriched in eight metabolic pathways, and were identified to correlate with constipation and total GI symptoms in ASD children (FDR-corrected P-value <0.25). These metabolomics findings further support the modulating role of gut microbiota on the associations of unbalanced dietary intake with GI symptoms. Collectively, our research provides insights into the relationship between diet, the gut microbiota, and GI symptoms in children with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

11. Maciver D, Rutherford M, Johnston L, Roy AS. Prevalence of neurodevelopmental differences and autism in Scottish primary schools 2018-2022. Autism research : official journal of the International Society for Autism Research. 2023.

This study investigated the prevalence of neurodevelopmental needs among children in primary schools in Scotland. Two groups were identified: autistic learners and a larger group of learners who had neurodevelopmental differences. These differences encompassed any need for additional support in various domains, including communication, interaction, emotional regulation, coordination, movement, and cognition. A two-phase process was employed, drawing on data from a cross-sectional study followed by a secondary analysis of a population census. In the first phase, a random sample of 688 children with additional support needs from 22 schools participated. Demographics, support characteristics, and neurodevelopmental needs were identified. Results revealed that 76.89% of children with additional support needs exhibited a need type consistent with a neurodevelopmental difference. In the second phase, data from the Scottish Government Annual Pupil Census, covering all state-provided primary school children between 2018 and 2022, were analyzed. Modeling was conducted using data from the first phase to estimate prevalence of neurodevelopmental differences. Data on autism were directly extracted from the census. Analysis revealed an increase in the prevalence of neurodevelopmental differences and autism. The prevalence of autism rose by 31.98%, with 2.60% of primary school children identified as autistic in 2022. Similarly, the prevalence of neurodevelopmental differences increased by 10.57%, with 16.22% of primary school children exhibiting such differences in 2022. Across 32 localities, regional variations in prevalence were observed. These findings show the substantial number of neurodivergent children within Scottish primary schools and emphasize the need for a neurodevelopmentally informed approach to inclusive education.

Lien vers le texte intégral (Open Access ou abonnement)

12. Marsicano G, Casartelli L, Federici A, Bertoni S, Vignali L, Molteni M, Facoetti A, Ronconi L. Prolonged neural encoding of visual information in autism. Autism research : official journal of the International Society for Autism Research. 2023.

Autism spectrum disorder (ASD) is associated with a hyper-focused visual attentional style, impacting higher-order social and affective domains. The understanding of such peculiarity can benefit from the use of multivariate pattern analysis (MVPA) of high-resolution electroencephalography (EEG) data, which has proved to be a powerful technique to investigate the hidden neural dynamics orchestrating sensory and cognitive processes. Here, we recorded EEG in typically developing (TD) children and in children with ASD during a visuo-spatial attentional task where attention was exogenously captured by a small (zoom-in) or large (zoom-out) cue in the visual field before the appearance of a target at different eccentricities. MVPA was performed both in the cue-locked period, to reveal potential differences in the modulation of the attentional focus, and in the target-locked period, to reveal potential cascade effects on stimulus processing. Cue-locked MVPA revealed that while in the TD group the pattern of neural activity contained information about the cue mainly before the target appearance, the ASD group showed a temporally sustained and topographically diffuse significant decoding of the cue neural response even after the target onset, suggesting a delayed extinction of cue-related neural activity. Crucially, this delayed extinction positively correlated with behavioral measures of attentional hyperfocusing. Results of target-locked MVPA were coherent with a hyper-focused attentional profile, highlighting an earlier and stronger decoding of target neural responses in small cue trials in the ASD group. The present findings document a spatially and temporally overrepresented encoding of visual information in ASD, which can constitute one of the main reasons behind their peculiar cognitive style.

Lien vers le texte intégral (Open Access ou abonnement)

13. Masiran R, Ilias MNA, Yubbu P. Methylphenidate-associated chest pain in a child. BMJ case reports. 2023; 16(11).

A young child was diagnosed with autism spectrum disorder with comorbid attention-deficit/hyperactivity disorder. His hyperactivity, impulsivity and absence of awareness towards danger increased his risk of harm and hence methylphenidate was indicated. Unfortunately, he developed chest pain eight months after the treatment initiation. We then stopped the stimulant and changed his treatment to atomoxetine, after which he no longer had chest pain. In the following illustrated case, we will discuss the cardiac side effect of methylphenidate.

Lien vers le texte intégral (Open Access ou abonnement)

14. Nagai Y, Kirino E, Tanaka S, Usui C, Inami R, Inoue R, Hattori A, Uchida W, Kamagata K, Aoki S. Functional connectivity in autism spectrum disorder evaluated using rs-fMRI and DKI. Cerebral cortex (New York, NY : 1991). 2023.

We evaluated functional connectivity (FC) in patients with adult autism spectrum disorder (ASD) using resting-state functional MRI (rs-fMRI) and diffusion kurtosis imaging (DKI). We acquired rs-fMRI data from 33 individuals with ASD and 33 healthy controls (HC) and DKI data from 18 individuals with ASD and 17 HC. ASD showed attenuated FC between the right frontal pole (FP) and the bilateral temporal fusiform cortex (TFusC) and enhanced FC between the right thalamus and the bilateral inferior division of lateral occipital cortex, and between the cerebellar vermis and the right occipital fusiform gyrus (OFusG) and the right lingual gyrus, compared with HC. ASD demonstrated increased axial kurtosis (AK) and mean kurtosis (MK) in white matter (WM) tracts, including the right anterior corona radiata (ACR), forceps minor (FM), and right superior longitudinal fasciculus (SLF). In ASD, there was also a significant negative correlation between MK and FC between the cerebellar vermis and the right OFusG in the corpus callosum, FM, right SLF and right ACR. Increased DKI metrics might represent neuroinflammation, increased complexity, or disrupted WM tissue integrity that alters long-distance connectivity. Nonetheless, protective or compensating adaptations of inflammation might lead to more abundant glial cells and cytokine activation effectively alleviating the degeneration of neurons, resulting in increased complexity. FC abnormality in ASD observed in rs-fMRI may be attributed to microstructural alterations of the commissural and long-range association tracts in WM as indicated by DKI.

Lien vers le texte intégral (Open Access ou abonnement)

15. Salloum-Asfar S, Zawia N, Abdulla SA. Retracing our steps: A review on autism research in children, its limitation and impending pharmacological interventions. Pharmacology & therapeutics. 2023: 108564.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by three core impairments: impaired communication, impaired reciprocal social interaction, and restricted, repetitive, and stereotypical behavior patterns. Spectrum refers to the heterogeneity of presentation, severity of symptoms, and medical comorbidities associated with ASD. Among the most common underlying medical conditions are attention-deficit/hyperactivity disorder (ADHD), anxiety, depression, epilepsy, digestive disorders, metabolic disorders, and immune disorders. At present, in the absence of an objective and accurate diagnosis of ASD, such as a blood test, pharmacological management remains a challenge. There are no approved medications to treat the core symptoms of the disorder and behavioral interventions are typically used as first line treatment. Additionally, psychotropic drugs with different mechanisms of action have been approved to reduce associated symptoms and comorbidities, including aripiprazole, risperidone, and haloperidol for irritability and aggression, methylphenidate, atomoxetine, clonidine, and guanfacine for ADHD, and melatonin for sleep disturbances. The purpose of this review is to emphasize that it is imperative to develop objective, personalized diagnostic kits in order to tailor and individualize treatment strategies, as well as to describe the current pharmacological management options available in clinical practice and new prospects that may be helpful in managing ASD’s core symptoms.

Lien vers le texte intégral (Open Access ou abonnement)

16. Schwartzman JM, Roth MC, Paterson AV, Jacobs AX, Williams ZJ. Community-guided, autism-adapted group cognitive behavioral therapy for depression in autistic youth (CBT-DAY): Preliminary feasibility, acceptability, and efficacy. Autism : the international journal of research and practice. 2023: 13623613231213543.

Depression in youth is a significant public health problem worldwide, particularly for autistic youth who are over twice as likely to experience depression than their non-autistic peers. Although pathways to depression are complex, emotional reactivity and negative self-esteem are two risk factors for depression in autistic and non-autistic youth. Although autistic youth are more likely to experience depression than their non-autistic peers, psychotherapy options for autistic youth are very limited; community guidance in the development and testing of psychotherapy programs is a promising approach in autism. Therefore, in this study, we designed an autism-adapted CBT-DAY, in collaboration with autistic community members. Specifically, CBT-DAY combined neurodiversity-affirming and cognitive behavioral approaches to target emotional reactivity and self-esteem in youth to improve depressive symptom severity in a group setting across 12 weeks. We examined the preliminary feasibility, acceptability, and efficacy of CBT-DAY in a pilot non-randomized trial. In addition, we implemented a rigorous protocol for assessing, monitoring, and addressing potential harms in this intervention. Results from 24 autistic youth (11-17 years old) suggest that CBT-DAY may be feasible to use in an outpatient clinical setting and generally acceptable to youth and their caregivers. Participation in CBT-DAY may be associated with significant improvements in youth emotional reactivity and self-esteem, as well as depressive symptom severity per self-report only. Exploratory analyses showed that participation in CBT-DAY may also be associated with significant improvements in internalizing symptoms. Findings demonstrate the potential promise of neurodiversity-affirming and cognitive behavioral approaches to treating depressive symptoms in some autistic youth.

Lien vers le texte intégral (Open Access ou abonnement)

17. Vernetti A, Butler M, Banarjee C, Boxberger A, All K, Macari S, Chawarska K. Face-to-face live eye-tracking in toddlers with autism: Feasibility and impact of familiarity and face covering. Autism research : official journal of the International Society for Autism Research. 2023.

Studies utilizing eye-tracking methods have potential to promptly capture real-world dynamics of one of the core areas of vulnerability in autism spectrum disorders (ASD), selective social attention. So far, no studies have successfully reported utilizing the method to examine social attention in toddlers with neurodevelopmental vulnerabilities in real world and challenging settings such as an interactive face-to-face. This study examined the feasibility and validity of live eye-tracking method in response to live interaction occurring in several contexts in toddlers with and without ASD. Forty-seven toddlers with ASD, with atypical development (ATYP), or typically developing (TD), underwent a 30-s live eye-tracking procedure during a face-to-face interaction with a masked stranger using child-directed-speech (16 ASD, 14 ATYP, 17 TD; M(age)  = 23.44 months, SD = 6.02). Out of this group of toddlers, 29 (10 ASD, 8 ATYP, 11 TD, M(age)  = 21.97 months, SD = 5.76) underwent the same procedure with one of their maskless parent. Task completion rate, calibration accuracy, and affective response (feasibility measures) as well as attention to the task and the social partner (validity measures) were examined. Task completion rate and calibration accuracy were excellent. Despite the challenging context of face-to-face interaction, the toddlers exhibited a neutral affect, and high attention to the task and the speaker. As anticipated, toddlers with ASD looked less at the social partner compared with control groups. However, attention was comparable between the Stranger and Parent conditions, indicating that the effect was consistent regardless of presence of face covering or the familiarity of the interactive partner. The study demonstrates the high feasibility and validity of a live eye-tracking task involving face-to-face interaction in neurodiverse toddlers with social vulnerabilities. The effect of diminished attention to social partners in toddlers with autism is robust and present when interacting with an unfamiliar person and parent. The results suggest that a brief live eye-tracking method constitutes a promising ecologically valid candidate biomarker and potential intervention outcome in autism.

Lien vers le texte intégral (Open Access ou abonnement)

18. Wallis KE, Usher R. Applying autism screening research to real-world scenarios: a commentary on Sheldrick et al. (2023). Journal of child psychology and psychiatry, and allied disciplines. 2023.

Early identification of autism spectrum disorder (ASD) continues to be a challenge despite universal screening efforts. One explanation is that screening tools have lower sensitivity and specificity than initial studies report when accounting for incomplete follow-up for all children screened. Sheldrick and colleagues used statistical modeling to demonstrate the impact on sensitivity and specificity when assumptions about the diagnostic outcome of children who do not pursue diagnostic evaluation are altered. Crucially, the work of Sheldrick et al. serves as a reminder that autism screening in primary care is just one component of the clinical assessment and should not be conflated with a diagnostic evaluation. Thus, lack of follow-up after a positive screen is a feature, not only a bug when using a screen in a clinical setting. Engaging families in shared decision-making around screening may help encourage follow-up, and thus, screening tool psychometric performance.

Lien vers le texte intégral (Open Access ou abonnement)

19. Wilson RB, Burdekin ED, Jackson NJ, Hughart L, Anderson J, Dusing SC, Gulsrud A, Kasari C. Slower pace in early walking onset is related to communication, motor skills, and adaptive function in autistic toddlers. Autism research : official journal of the International Society for Autism Research. 2023.

The onset of walking is a major developmental milestone in early childhood and is critical to the development of language and social communication. Delays in walking have been described in individuals with ASD. Yet, less is known about the quality of early gait development in toddlers with ASD and the relationship to motor skills, social communication, and language. Quantitative measures of locomotion can improve our ability to evaluate subtle and specific motor differences in toddlers with ASD and their relationship to other developmental domains. We used quantitative gait analysis to evaluate locomotion in toddlers with ASD (n = 51) and compared these data to a reference chronological aged (CA) and mental aged (MA) matched typically developing (TD) cohort (n = 45). We also examined the relationship of quantitative gait metrics to developmental measures among toddlers with ASD. We found that although toddlers with ASD achieved a typical age range of walking onset, they exhibited a pattern of slower pace compared to the TD cohort when matched by CA and MA. We also found that slower measures of pace were associated with lower developmental scores of communication, motor skills, and adaptive function. Our findings improve characterization of locomotion in toddlers with ASD and the relationship of motor skills to other developmental domains.

Lien vers le texte intégral (Open Access ou abonnement)

20. Woodbury-Smith M, D’Abate L, Stavropoulos DJ, Howe J, Drmic I, Hoang N, Zarrei M, Trost B, Iaboni A, Anagnostou E, Scherer SW. The Phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples. Journal of medical genetics. 2023; 60(12): 1153-60.

BACKGROUND: We present genomic and phenotypic findings of a transgenerational family consisting of three male offspring, each with a maternally inherited distal 220 kb deletion at locus 16p11.2 (BP2-BP3). Genomic analysis of all family members was prompted by a diagnosis of autism spectrum disorder (ASD) in the eldest child, who also presented with a low body mass index. METHODS: All male offspring underwent extensive neuropsychiatric evaluation. Both parents were also assessed for social functioning and cognition. The family underwent whole-genome sequencing. Further data curation was undertaken from samples ascertained for neurodevelopmental disorders and congenital abnormalities. RESULTS: On medical examination, both the second and third-born male offspring presented with obesity. The second-born male offspring met research diagnostic criteria for ASD at 8 years of age and presented with mild attention deficits. The third-born male offspring was only noted as having motor deficits and received a diagnosis of developmental coordination disorder. Other than the 16p11.2 distal deletion, no additional contributing variants of clinical significance were observed. The mother was clinically evaluated and noted as having a broader autism phenotype. CONCLUSION: In this family, the phenotypes observed are most likely caused by the 16p11.2 distal deletion. The lack of other overt pathogenic mutations identified by genomic sequencing reinforces the variable expressivity that should be heeded in a clinical setting. Importantly, distal 16p11.2 deletions can present with a highly variable phenotype even within a single family. Our additional data curation provides further evidence on the variable clinical presentation among those with pathogenetic 16p11.2 (BP2-BP3) mutations.

Lien vers le texte intégral (Open Access ou abonnement)