Pubmed du 16/08/23

Pubmed du jour

1. Acosta A, Khokhlovich E, Reis H, Vyshedskiy A. Dietary Factors Impact Developmental Trajectories in Young Autistic Children. J Autism Dev Disord;2023 (Aug 16)

PURPOSE: The purpose of this research was to investigate the impact of dietary factors on developmental trajectories in young autistic children. METHODS: A gluten-free and casein-free diets, as well as six types of food (meat and eggs, vegetables, uncooked vegetables, sweets, bread, and « white soft bread that never molds ») were investigated observationally for up to three years in 5,553 children 2 to 5 years of age via parent-report measures completed within a mobile application. Children had a parent-reported diagnosis of Autism Spectrum Disorder (ASD); 78% were males; the majority of participants resided in the USA. Outcome was monitored on five orthogonal subscales: Language Comprehension, Expressive Language, Sociability, Sensory Awareness, and Health, assessed by the Autism Treatment Evaluation Checklist (ATEC) (Rimland & Edelson, 1999) and Mental Synthesis Evaluation Checklist (MSEC) (Arnold & Vyshedskiy, 2022; Braverman et al., 2018). RESULTS: Consumption of fast-acting carbohydrates – sweets, bread, and « white soft bread that never molds » – was associated with a significant and a consistent Health subscale score decline. On the contrary, a gluten-free diet, as well as consumption of meat, eggs, and vegetables were associated with a significant and consistent improvement in the Language Comprehension score. Consumption of meat and eggs was also associated with a significant and consistent improvement in the Sensory Awareness score. CONCLUSION: The results of this study demonstrate a strong correlation between a diet and developmental trajectories and suggest possible dietary interventions for young autistic children.

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2. And Biomechanics AB. Retracted: The Intervention of Music Therapy on Behavioral Training of High-Functioning Autistic Children under Intelligent Health Monitoring. Appl Bionics Biomech;2023;2023:9765659.

[This retracts the article DOI: 10.1155/2022/5766617.].

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3. Angel L, Ailey SH, Delaney KR, Mohr L. Presentation of Depressive Symptoms in Autism Spectrum Disorders. West J Nurs Res;2023 (Sep);45(9):854-861.

BACKGROUND: Depressive disorders are frequently mis- and underdiagnosed in individuals with autism spectrum disorders (ASD). OBJECTIVE: Our objective was to identify and synthesize current knowledge regarding (1) the presentation of depressive symptoms and (2) the use of self-reports in assessing depressive symptoms in individuals with ASD and comparisons between self-reported and observer-reported symptoms. A scoping review was conducted to capture the full range of literature on the topic and to identify research gaps. METHODS: Articles were identified through a search of academic literature and screened for relevance to the aims of the review. RESULTS: In addition to typical depression symptoms, individuals with ASD may demonstrate atypical symptoms such as changes in autistic symptoms, self-injurious behavior, and psychomotor changes. Moreover, the review revealed a bias toward observer-reports of symptoms. Self-reports frequently were not included or were ascribed less weight than observer-reports. Self-reports typically differed from reports given by parents or other caregivers, but a consistent pattern in these differences has not been established. CONCLUSIONS: Further research on the use of self-reports in assessing depressive symptoms in individuals with ASD is needed. Self-reports may provide information not obtainable through observer-reports, and integrating both self- and observer-reports in psychiatric evaluations may produce more comprehensive and accurate assessments.

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4. Chihuri S, Blanchard A, DiGuiseppi CG, Li G. Epidemiologic Patterns of Autism Spectrum Disorder in Pediatric Inpatients in the United States, 1997-2019. J Autism Dev Disord;2023 (Aug 16)

The reported prevalence of autism spectrum disorder (ASD) has more than tripled in the past two decades in the United States, due in part to improved screening and diagnostic techniques. Epidemiologic data on ASD, however, are largely limited to population-based surveillance systems. We examined epidemiologic patterns in ASD diagnoses among inpatients aged 1-20 years, using data from the Kids’ Inpatient Database (KID) from 1997 to 2019. ASD cases were identified using ICD-9-CM and ICD-10-CM codes. Of 9,267,881 hospital discharges studied, 110,090 (1.19%) had a diagnosis of ASD. The prevalence of ASD was higher among males compared to females (1.53% vs. 0.54%) and was highest among non-Hispanic Whites (1.28% vs. 0.95% in non-Hispanic Blacks, 0.94% in Hispanics, and 1.18% in Other races). ASD prevalence increased from 0.18% to 1997 to 3.36% in 2019 (Z= -273.40, p < 0.001). The absolute increase was higher among males compared to females (0.26-4.90% vs. 0.08-1.77%) and among non-Hispanic Whites (0.18-2.88%) compared to non-Hispanic Blacks (0.23-2.72%), Hispanics (0.14-2.60%), and Other races (0.19-2.97%). The epidemiologic patterns of ASD based on inpatient data are generally consistent with reports from the community-based autism surveillance system. Our findings indicate that KID and other health services data might play a complementary role in ASD surveillance.

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5. Goldblum JE, McFayden TC, Bristol S, Putnam OC, Wylie A, Harrop C. Autism Prevalence and the Intersectionality of Assigned Sex at Birth, Race, and Ethnicity on Age of Diagnosis. J Autism Dev Disord;2023 (Aug 16)

PURPOSE: An official autism diagnosis is required to access timely intervention and is associated with better long-term wellbeing and mental health. Certain demographic characteristics, such as being female or a racially or ethnically minoritized youth, have been associated with significant diagnostic lag. However, it remains unclear how assigned sex, race, and ethnicity interact with each other in predicting the prevalence and age of autism diagnosis. METHODS: To examine the interactions between assigned sex, race, and ethnicity, we used data from the National Survey of Children’s Health (NSCH; 2016 > 2021). RESULTS: One in 38 children had an autism diagnosis and 3.8 males were diagnosed per 1 female. Hierarchical linear regressions yielded diagnostic delays in some females, particularly those who were non-Hispanic white, Black, and Asian. Ethnic and racial minority children had significantly earlier diagnoses than white and non-Hispanic children when not accounting for sex. CONCLUSION: This study demonstrates slight increases in reported autism prevalence, a diagnostic lag in some autistic females that was strongly associated with ethnicity, and earlier diagnoses in racial and ethnic minority youth, a finding that may be explained by factors associated with phenotypic differences. This study has important implications for the diagnosis of minority autistic youth, particularly females and females who are non-Hispanic, who may experience a greater propensity for diagnostic delays.

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6. International OT. Retracted: Sensory Integration Training and Social Sports Games Integrated Intervention for the Occupational Therapy of Children with Autism. Occup Ther Int;2023;2023:9823565.

[This retracts the article DOI: 10.1155/2022/9693648.].

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7. Ko C, Kang S, Hong SB, Park YR. Protocol for the development of joint attention-based subclassification of autism spectrum disorder and validation using multi-modal data. BMC Psychiatry;2023 (Aug 15);23(1):589.

BACKGROUND: Heterogeneity in clinical manifestation and underlying neuro-biological mechanisms are major obstacles to providing personalized interventions for individuals with autism spectrum disorder (ASD). Despite various efforts to unify disparate data modalities and machine learning techniques for subclassification, replicable ASD clusters remain elusive. Our study aims to introduce a novel method, utilizing the objective behavioral biomarker of gaze patterns during joint attention, to subclassify ASD. We will assess whether behavior-based subgrouping yields clinically, genetically, and neurologically distinct ASD groups. METHODS: We propose a study involving 60 individuals with ASD recruited from a specialized psychiatric clinic to perform joint attention tasks. Through the examination of gaze patterns in social contexts, we will conduct a semi-supervised clustering analysis, yielding two primary clusters: good gaze response group and poor gaze response group. Subsequent comparison will occur across these clusters, scrutinizing neuroanatomical structure and connectivity using structural as well as functional brain imaging studies, genetic predisposition through single nucleotide polymorphism data, and assorted socio-demographic and clinical information. CONCLUSIONS: The aim of the study is to investigate the discriminative properties and the validity of the joint attention-based subclassification of ASD using multi-modality data. TRIAL REGISTRATION: Clinical trial, KCT0008530, Registered 16 June 2023, https://cris.nih.go.kr/cris/index/index.do .

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8. Lowther C, Valkanas E, Giordano JL, Wang HZ, Currall BB, O’Keefe K, Pierce-Hoffman E, Kurtas NE, Whelan CW, Hao SP, Weisburd B, Jalili V, Fu J, Wong I, Collins RL, Zhao X, Austin-Tse CA, Evangelista E, Lemire G, Aggarwal VS, Lucente D, Gauthier LD, Tolonen C, Sahakian N, Stevens C, An JY, Dong S, Norton ME, MacKenzie TC, Devlin B, Gilmore K, Powell BC, Brandt A, Vetrini F, DiVito M, Sanders SJ, MacArthur DG, Hodge JC, O’Donnell-Luria A, Rehm HL, Vora NL, Levy B, Brand H, Wapner RJ, Talkowski ME. Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies. Am J Hum Genet;2023 (Aug 16)

Short-read genome sequencing (GS) holds the promise of becoming the primary diagnostic approach for the assessment of autism spectrum disorder (ASD) and fetal structural anomalies (FSAs). However, few studies have comprehensively evaluated its performance against current standard-of-care diagnostic tests: karyotype, chromosomal microarray (CMA), and exome sequencing (ES). To assess the clinical utility of GS, we compared its diagnostic yield against these three tests in 1,612 quartet families including an individual with ASD and in 295 prenatal families. Our GS analytic framework identified a diagnostic variant in 7.8% of ASD probands, almost 2-fold more than CMA (4.3%) and 3-fold more than ES (2.7%). However, when we systematically captured copy-number variants (CNVs) from the exome data, the diagnostic yield of ES (7.4%) was brought much closer to, but did not surpass, GS. Similarly, we estimated that GS could achieve an overall diagnostic yield of 46.1% in unselected FSAs, representing a 17.2% increased yield over karyotype, 14.1% over CMA, and 4.1% over ES with CNV calling or 36.1% increase without CNV discovery. Overall, GS provided an added diagnostic yield of 0.4% and 0.8% beyond the combination of all three standard-of-care tests in ASD and FSAs, respectively. This corresponded to nine GS unique diagnostic variants, including sequence variants in exons not captured by ES, structural variants (SVs) inaccessible to existing standard-of-care tests, and SVs where the resolution of GS changed variant classification. Overall, this large-scale evaluation demonstrated that GS significantly outperforms each individual standard-of-care test while also outperforming the combination of all three tests, thus warranting consideration as the first-tier diagnostic approach for the assessment of ASD and FSAs.

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9. Lupi E, Tucci F, Casula L, Novello RL, Guerrera S, Vicari S, Valeri G. Early and stable difficulties of everyday executive functions predict autism symptoms and emotional/behavioral problems in preschool age children with autism: a 2-year longitudinal study. Front Psychol;2023;14:1092164.

INTRODUCTION: Longitudinal studies of autistic children show that autism symptoms and emotional/behavioral problems vary and change over time. However, the factors that affect this variability remain far from certain and very little is known about what take place in the preschool period and the role of executive functions (EF). METHODS: Here, we test the influence of stable difficulties in everyday executive functioning (EEF) during early childhood across 2 years on autistic symptoms and emotional and behavioral problems. Twenty-nine autistic children (24 males and 5 females) were assessed twice within the space of 2 years. At baseline (M = 29 months, SD =5.6 months), participants were assessed for EEF, cognitive development, autistic symptoms, and emotional/behavioral problems. At follow-up, we repeated the same assessment except for cognitive development. RESULTS: The group with stable difficulties (across 2 years) in EEF during early childhood showed a worsening in the severity of autistic symptoms and emotional and behavioral problems compared with children without EEF difficulties (p < 0.05), and these effects cannot be attributable to cognitive development. DISCUSSION: Our results suggest that early and stable EEF plays the role of a modifier by interacting with the core domains of autism, in particular with the social affect domain (SA CSS), influencing social cognition and exacerbating or lessening symptom expression and emotional behavioral problems. These short-term longitudinal and preliminary findings underscore the importance of EEF as necessary target for early intervention in children with autism.

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10. Osuna A, Sabini K, Yamane E, Flores J, Pierce N, Lemus-Valle J, Vernon T. Socialization, Education, and Learning for the Internet (SELFI): A Pilot RCT of a Social Media Skills Group Program for Autistic Adults. J Autism Dev Disord;2023 (Aug 16)

Many autistic adults report preference for computer-mediated communication and social media use. Despite many benefits to online socialization, there are many challenges including anxiety and cyber-victimization. To date, support is limited related to helping autistic adults with safe and effective internet use. The purpose of this study was to evaluate the feasibility, acceptability, and preliminary efficacy of the novel SELFI program. This pilot study utilized a randomized controlled trial design. A total of 25 autistic adults enrolled in the study and were randomized to the nine-week SELFI program or a waitlist control condition. Feasibility assessed enrollment, attrition, and fidelity of delivery. Acceptability examined attendance and feedback from participants and peer mentors. Efficacy evaluated change in Facebook activity, social media utility/anxiety, and individualized goals. Regarding feasibility, the recruitment goal was met within one month, there was limited attrition, and therapists delivered the program with high fidelity. Participants attended a majority of scheduled sessions and feedback from participants reflected high levels of agreement with several facets of the program. Compared to the control group, more participants assigned to the SELFI condition were perceived by autistic and non-autistic raters as having improved Facebook activity. SELFI participants also reported reduced difficulty meeting their individualized goal. Findings support the piloted SELFI program as feasible and acceptable with signals of preliminary efficacy. This study establishes an exciting foundation regarding an innovative social media skills program, however more research is necessary.

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11. Poulain R, Batty M, Cappe C. What Makes the Detection of Movement Different Within the Autistic Traits Spectrum? Evidence From the Audiovisual Depth Paradigm. Multisens Res;2023 (Jun 6);36(6):527-556.

Atypical sensory processing is now considered a diagnostic feature of autism. Although multisensory integration (MSI) may have cascading effects on the development of higher-level skills such as socio-communicative functioning, there is a clear lack of understanding of how autistic individuals integrate multiple sensory inputs. Multisensory dynamic information is a more ecological construct than static stimuli, reflecting naturalistic sensory experiences given that our environment involves moving stimulation of more than one sensory modality at a time. In particular, depth movement informs about crucial social (approaching to interact) and non-social (avoiding threats/collisions) information. As autistic characteristics are distributed on a spectrum over clinical and general populations, our work aimed to explore the multisensory integration of depth cues in the autistic personality spectrum, using a go/no-go detection task. The autistic profile of 38 participants from the general population was assessed using questionnaires extensively used in the literature. Participants performed a detection task of auditory and/or visual depth moving stimuli compared to static stimuli. We found that subjects with high-autistic traits overreacted to depth movement and exhibited faster reaction times to audiovisual cues, particularly when the audiovisual stimuli were looming and/or were presented at a fast speed. These results provide evidence of sensory particularities in people with high-autistic traits and suggest that low-level stages of multisensory integration could operate differently all along the autistic personality spectrum.

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12. Purcell RH, Sefik E, Werner E, King AT, Mosley TJ, Merritt-Garza ME, Chopra P, McEachin ZT, Karne S, Raj N, Vaglio BJ, Sullivan D, Firestein BL, Tilahun K, Robinette MI, Warren ST, Wen Z, Faundez V, Sloan SA, Bassell GJ, Mulle JG. Cross-species analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion. Sci Adv;2023 (Aug 18);9(33):eadh0558.

The 1.6-megabase deletion at chromosome 3q29 (3q29Del) is the strongest identified genetic risk factor for schizophrenia, but the effects of this variant on neurodevelopment are not well understood. We interrogated the developing neural transcriptome in two experimental model systems with complementary advantages: isogenic human cortical organoids and isocortex from the 3q29Del mouse model. We profiled transcriptomes from isogenic cortical organoids that were aged for 2 and 12 months, as well as perinatal mouse isocortex, all at single-cell resolution. Systematic pathway analysis implicated dysregulation of mitochondrial function and energy metabolism. These molecular signatures were supported by analysis of oxidative phosphorylation protein complex expression in mouse brain and assays of mitochondrial function in engineered cell lines, which revealed a lack of metabolic flexibility and a contribution of the 3q29 gene PAK2. Together, these data indicate that metabolic disruption is associated with 3q29Del and is conserved across species.

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13. Rama L, Steffen I, Carron PN, Bilancioni S, Beysard N. [Emergency management of patients with autism spectrum disorder]. Rev Med Suisse;2023 (Aug 16);19(837):1440-1442.

People with autism spectrum disorder visit emergency departments more frequently than the rest of the population. Their ability to communicate with their environment may not only be limited but also different from the interactions of non-autistic people. In addition, the multiple sensory stimulations present in the emergency departments are likely to make interactions, and therefore the care of patients with an autism spectrum disorder more difficult. Understanding these difficulties and the special attentions to consider will allow better care for them. This article highlights the various points of attention to be had in order to offer quality welcoming and care to patients with an autism spectrum disorder.

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14. Ratcliff K, Hilton CL, Fingerhut PE, Jin Y, Hong I. Relationship between Emotional Support for Parents and Autistic Children’s Participation in Social and Physical Activities. Occup Ther Health Care;2023 (Aug 10):1-15.

The purpose of this study was to determine if parents receiving emotional support is positively correlated with children’s participation in physical and social activities and if such a correlation exists between parental emotional support in children labeled as autistic. Data were drawn from 30,501 children aged 6 to 17 years in the 2020 National Survey of Children’s Health database and analyzed using a retrospective cross-sectional approach based on multivariate linear regression models. Results showed parental emotional support was statistically significantly correlated with children’s physical and social activity in the total sample but was not significant for the emotional support of parents with autistic children. The findings suggest that other issues must be considered as contributing factors for parents of autistic children in relation to social and physical activity participation.

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15. Sala G, Hooley J, Hooley M, Stokes MA. Comparing Physical Intimacy and Romantic Relationships of Autistic and Non-autistic Adults: A Qualitative Analysis. J Autism Dev Disord;2023 (Aug 16)

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16. Silva APD, Cáceres-Assenço AM. Telemonitoring of children with risk indicators for Autism Spectrum Disorder: preliminary findings. Codas;2023;35(5):e20210308.

PURPOSE: monitor the development of pragmatic skills in children with clinical risk indicators for autism spectrum disorder (ASD) before and after the application of an integrated parental guidance protocol. METHODS: Seven families who had children with clinical risk indicators for autism spectrum disorder and were in the diagnostic process participated in this study. The study was divided into three moments: (1) structured interview with parents and assessment of children’s pragmatic skills, (2) virtual sessions with guidance to parents related to the characteristics of the condition and skills that can be developed to favor their development, and (3) reassessment of children’s pragmatic skills. Statistical analysis considered occupation of communicative space, use of functions and communicative means at ground zero and post-monitoring. RESULTS: There was no significant difference between the two evaluation moments, but a greater number was observed in the use of communicative acts and more interactive communicative functions as an outcome. CONCLUSION: The monitoring of children’s pragmatic skills suggests that they present discrete evolution, especially the more interactive ones, after the application of the integrated parental guidance protocol.

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17. Tomchek SD, Baker A, Little LM, Wallisch A, Dean E. Interventions to Support Participation in Sleep for Autistic Children and Adolescents (2013-2021). Am J Occup Ther;2023 (Mar 1);77(Suppl 1)

Systematic Review Briefs provide a summary of the findings from systematic reviews developed in conjunction with the American Occupational Therapy Association’s Evidence-Based Practice Program. Each systematic review brief summarizes the evidence on a theme related to a systematic review topic. This systematic review brief presents findings from the systematic review on interventions to support participation in sleep for autistic1 children and adolescents (birth to 18 yr).

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18. Tomchek SD, Dean E, Baker A, Little LM, Wallisch A. Interventions to Support Participation in Education for Autistic Students (2013-2021). Am J Occup Ther;2023 (Mar 1);77(Suppl 1)

Systematic Review Briefs provide a summary of the findings from systematic reviews developed in conjunction with the American Occupational Therapy Association’s Evidence-Based Practice Program. Each systematic review brief summarizes the evidence on a theme related to a systematic review topic. This systematic review brief presents findings from the systematic review on interventions to support autistic1 children and youth (up to 18 yr old) and focuses on participation in education settings.

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19. Wan B, Hong SJ, Bethlehem RAI, Floris DL, Bernhardt BC, Valk SL. Diverging asymmetry of intrinsic functional organization in autism. Mol Psychiatry;2023 (Aug 16)

Autism is a neurodevelopmental condition involving atypical sensory-perceptual functions together with language and socio-cognitive deficits. Previous work has reported subtle alterations in the asymmetry of brain structure and reduced laterality of functional activation in individuals with autism relative to non-autistic individuals (NAI). However, whether functional asymmetries show altered intrinsic systematic organization in autism remains unclear. Here, we examined inter- and intra-hemispheric asymmetry of intrinsic functional gradients capturing connectome organization along three axes, stretching between sensory-default, somatomotor-visual, and default-multiple demand networks, to study system-level hemispheric imbalances in autism. We observed decreased leftward functional asymmetry of language network organization in individuals with autism, relative to NAI. Whereas language network asymmetry varied across age groups in NAI, this was not the case in autism, suggesting atypical functional laterality in autism may result from altered developmental trajectories. Finally, we observed that intra- but not inter-hemispheric features were predictive of the severity of autistic traits. Our findings illustrate how regional and patterned functional lateralization is altered in autism at the system level. Such differences may be rooted in atypical developmental trajectories of functional organization asymmetry in autism.

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20. Woods R, Williams K, Watts C. « Profound autism »: The dire consequences of diagnostic overshadowing. Autism Res;2023 (Aug 15)

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