1. Dong HY, Feng JY, Li HH, Yue XJ, Jia FY. Non-parental caregivers, low maternal education, gastrointestinal problems and high blood lead level: predictors related to the severity of autism spectrum disorder in Northeast China. BMC pediatrics. 2022; 22(1): 11.

BACKGROUND: The prevalence of autism spectrum disorder (ASD) has increased rapidly in recent years. Environmental factors may play an important role in the pathogenesis of ASD. These factors may include socioeconomic factors, nutritional factors, heavy metal exposure, air pollution, etc. Our aim is to analyze possible environmental factors associated with the severity of ASD. METHODS: All participating children were divided into two groups (mild and moderate/severe) according to the severity of their symptoms, as determined by their Childhood Autism Rating Scale (CARS) scores. The socioeconomic, demographic factors and the nutritional factors that may affect the severity of ASD were included in the logistic regression to analyze whether they were predictors that affected the severity of ASD. RESULTS: Logistic regression showed that caregivers(P = 0.042), maternal education (P = 0.030), gastrointestinal problems (P = 0.041) and a high serum concentration of lead (P = 0.003) were statistically significantly associated with ASD severity. CONCLUSION: Many environmental factors affect the severity of ASD. We concluded that non-parental caregivers, low maternal education, gastrointestinal problems and high blood lead level maybe predictors that affected the severity of ASD in northeast China.

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2. García-Alcón A, González-Peñas J, Weckx E, Penzol MJ, Gurriarán X, Costas J, Díaz-Caneja CM, Moreno C, Hernández P, Arango C, Parellada M. Oxytocin Exposure in Labor and its Relationship with Cognitive Impairment and the Genetic Architecture of Autism. Journal of autism and developmental disorders. 2022.

Whether there is a relationship between oxytocin (OXT) use in labor and the risk of autism (ASD), and the nature of such relationship, is unclear. By integrating genetic and clinical data in a sample of 176 ASD participants, we tested the hypothesis that OXT is a marker for abnormal prenatal development which leads to impairments in the process of labor. OXT-exposed ASD had more obstetric complications (P = 0.031), earlier onset of symptoms (P = 0.027), poorer cognitive development (P = 0.011), higher mutation burden across neurodevelopment genes (P = 0.020; OR = 5.33) and lower transmission of polygenic risk for ASD (P = 0.0319), than non-exposed ASD. OXT seems to constitute a risk indicator rather than a risk factor for ASD, which is relevant for diagnostic and genetic counselling.

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3. Gholipour K, Ghiasi A, Shahrokhi H, Dadashi Z, Javanmard S, Tabatabaei SH, Iezadi S. Perceptions of the Professionals and Parents of Children with Autism Spectrum Disorders About Autism Services; A Qualitative Study. Journal of autism and developmental disorders. 2022.

In this qualitative study, we aimed to explore the challenges of providing services and supports for children with autism spectrum disorders (ASD) and their families from the perceptions of professionals and parents of children with ASD. We classified the results of the study into three key categories including shortcomings in the management of children with ASD; shortcomings of supportive programs and facilities for children with ASD and their families; and organizational challenges in providing services for these children. We analyzed data using the content analysis method. The results showed that there is a wide range of challenges in providing sufficient and high-quality services for children with ASD and empowerment programs for their parents.

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4. Giannadou A, Jones M, Freeth M, Samson AC, Milne E. Investigating neural dynamics in autism spectrum conditions outside of the laboratory using mobile electroencephalography. Psychophysiology. 2022; 59(4): e13995.

There is currently a paucity of neuroscientific data recorded from more severely affected individuals with autism spectrum conditions (ASC). Enabling data collection to take place in a more familiar environment, that is, at home, may increase access to research participation in this group. Here, we present a new accessible method of studying brain activity of autistic individuals outside the laboratory in their home environment, using mobile electroencephalography (EEG) technology. The primary aim of the present study was to test the feasibility of acquiring good quality EEG data from autistic children at home, assessed via a set of objective data quality metrics, and to develop a list of practical guidelines on how to successfully conduct an EEG experiment in such a naturalistic setting based directly upon participants’ views. To demonstrate the utility of this method, we evaluated the EEG signal quality recorded from 69 children with ASC at home using a gel-based Eego Sports mobile EEG system. Five key indicators of data quality were assessed. Our results demonstrate that it is possible to record high quality EEG signal from children with ASC at home, generating data that could address a number of research questions. A user experience survey identified areas of good practice, which researchers should take into consideration when designing mobile EEG studies aiming to acquire data from children with ASC at a home environment.

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5. Girardi ACS, van Opstal Takahashi VN, Vadasz E, Costa CIS, Zachi EC, Vianna-Morgante AM, Passos-Bueno MR. FMR1 premutation in children with autism spectrum disorders: Should additional diagnostic tests be performed?. American journal of medical genetics Part A. 2022; 188(4): 1334-7.

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6. Hajjar DJ, McCarthy JW. Individuals Who Use Augmentative and Alternative Communication and Participate in Active Recreation: Perspectives From Adults With Developmental Disabilities and Acquired Conditions. American journal of speech-language pathology. 2022; 31(1): 375-89.

PURPOSE: The aim of the study was to gather the perspectives and lived experiences of 10 adults who use augmentative and alternative communication (AAC) and participate in active recreation. Active recreational participation includes individual sports such as adaptive skiing, surfing, and cycling, as well as unified team sports such as soccer, bocce, and basketball. METHOD: This research involved a qualitative study with two separate asynchronous online focus groups each conducted over a 6-week span. The focus groups included literate individuals who use AAC and engage in active recreational pursuits across the United States. One focus group included five individuals with acquired conditions, and the other group included five individuals with developmental disabilities. RESULTS: Thematic analysis of the data from both focus groups revealed five primary themes with corresponding subthemes: barriers (intrinsic and extrinsic), supports (intrinsic and extrinsic), benefits (intrinsic and extrinsic), communication (methods), and recommendations for communication partners and people who use AAC. CONCLUSIONS: This study provides important information to individuals who use AAC and their communication partners about the benefits of active recreation and the supports needed to make these experiences successful. As a result of this study, speech-language pathologists, related professionals, and caregivers will gain a better understanding of how they can support recreational participation for people who use AAC with a specific focus on enhancing communication and expanding social networks. Supplemental Material https://doi.org/10.23641/asha.17701043.

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7. Helsel BC, Foster RNS, Sherman J, Steele R, Ptomey LT, Montgomery R, Washburn RA, Donnelly JE. The Family Nutrition and Physical Activity Survey: Comparisons with Obesity and Physical Activity in Adolescents with Autism Spectrum Disorder. Journal of autism and developmental disorders. 2022.

Adolescents with autism spectrum disorder (ASD) are at a heightened risk for obesity. Family-level measures of nutrition and physical activity may help explain factors contributing to disproportionate rates of weight gain. Twenty adolescents with ASD participated in baseline testing for a study to assess the feasibility of remotely-delivered yoga. Parents completed the Family Nutrition and Physical Activity (FNPA) survey and anthropometrics and physical activity were assessed in the adolescents. A median split was applied to the FNPA score to create high and low obesogenic environments and nonparametric O’Brien’s multiple endpoint tests were used to evaluate the differences. Between-group differences were found in anthropometrics (p = 0.01) but not physical activity (p = 0.72). Implications for a multifaceted family-based approach to obesity prevention are discussed.

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8. Matsuzaki Y, Berman DP, Kurobe H, Kelly JM, Iwaki R, Blum K, Toshihiro S, Harrison A, Cheatham JP, Shinoka T. Pre-clinical Evolution of a Novel Transcatheter Bioabsorbable ASD/PFO Occluder Device. Pediatric cardiology. 2022.

To date, there has been limited investigation of bioabsorbable atrial septal defect (ASD) or patent foramen ovale (PFO) closure devices using clinically relevant large animal models. The purpose of this study is to explore the function and safety of a bioabsorbable ASD occluder (BAO) system for PFO and/or secundum ASD transcatheter closure. Using a sheep model, the intra-atrial septum was evaluated by intracardiac echo (ICE). If a PFO was not present, atrial communication was created via transseptal puncture. Device implantation across the intra-atrial communication was performed with fluoroscopic and ICE guidance. Our 1st generation device consisted of a main structure of thin Poly(L-lactide-co-epsilon-caprolactone) (PLCL) fibers, and an internal Poly glycolic acid (PGA) fabric. Four procedures validated procedure feasibility. Subsequently, device design was modified for improved transcatheter delivery. The 2nd generation device has a two-layered structure and was implanted in six sheep. Results showed procedural success in 9/10 (90%) animals. With deployment, the 1st generation device did not reform into its original disk shape and did not conform nicely along the atrial septum. The 2nd generation device was implanted in six animals, 3 out of 6 survived out to 1 year. At 1 year post implantation, ICE confirmed no residual shunting. By necropsy, biomaterials had partially degraded, and histology of explanted samples revealed significant device endothelialization and biomaterial replacement with a collagen layer. Our results demonstrate that our modified 2nd generation BAO can be deployed via minimally invasive percutaneous transcatheter techniques. The BAO partially degrades over 1 year and is replaced by host native tissues. Future studies are needed prior to clinical trials.

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9. Meyer M, Jurek B, Alfonso-Prieto M, Ribeiro R, Milenkovic VM, Winter J, Hoffmann P, Wetzel CH, Giorgetti A, Carloni P, Neumann ID. Structure-function relationships of the disease-linked A218T oxytocin receptor variant. Molecular psychiatry. 2022; 27(2): 907-17.

Various single nucleotide polymorphisms (SNPs) in the oxytocin receptor (OXTR) gene have been associated with behavioral traits, autism spectrum disorder (ASD) and other diseases. The non-synonymous SNP rs4686302 results in the OXTR variant A218T and has been linked to core characteristics of ASD, trait empathy and preterm birth. However, the molecular and intracellular mechanisms underlying those associations are still elusive. Here, we uncovered the molecular and intracellular consequences of this mutation that may affect the psychological or behavioral outcome of oxytocin (OXT)-treatment regimens in clinical studies, and provide a mechanistic explanation for an altered receptor function. We created two monoclonal HEK293 cell lines, stably expressing either the wild-type or A218T OXTR. We detected an increased OXTR protein stability, accompanied by a shift in Ca(2+) dynamics and reduced MAPK pathway activation in the A218T cells. Combined whole-genome and RNA sequencing analyses in OXT-treated cells revealed 7823 differentially regulated genes in A218T compared to wild-type cells, including 429 genes being associated with ASD. Furthermore, computational modeling provided a molecular basis for the observed change in OXTR stability suggesting that the OXTR mutation affects downstream events by altering receptor activation and signaling, in agreement with our in vitro results. In summary, our study provides the cellular mechanism that links the OXTR rs4686302 SNP with genetic dysregulations associated with aspects of ASD.

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10. Mihandoust S, Khademi M, Radfar M. Stages of grieving in fathers of autistic children: a qualitative study. European review for medical and pharmacological sciences. 2021; 25(24): 7698-708.

OBJECTIVE: The grieving process in parents of these children is an ongoing and cyclic one since there is no real end to it. We explored the experience of grief and feelings of loss in fathers of children diagnosed with autism spectrum disorder (ASD), in the west and northwest of Iran. MATERIALS AND METHODS: This qualitative study was conducted using content analysis. Fourteen fathers took part in a semi-structured interview. RESULTS: Six categories were identified in relation to the stages of grief: 1- « Uncertainty of dealing with the unpleasant unknown »; 2- « Being hurt and broken inside »; 3- « Isolation and concealment as a consequence of the pressure caused by ignorance »; 4- « Search for cause »; 5- « Search for a cure »; 6- « Breaking or blooming ». CONCLUSIONS: Fathers of children with ASD go through intense and continuous sorrow and grief. According to our findings, it is recommended that health care professionals work collaboratively with fathers and provide support upon receiving the diagnosis of their child.

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11. Phalen LA, Chezan LC. Using the Question-Answer Relationship Strategy to Improve Listening Comprehension in Young Children with Autism Spectrum Disorder. Journal of autism and developmental disorders. 2022.

Our purpose in this study was to examine the effects of an intervention package consisting of shared book reading and an adapted question-answer relationship (QAR) strategy comprised of visual supports and think-aloud scripts on listening comprehension in four preschool children with autism spectrum disorder (ASD). We used a single-subject concurrent multiple-baseline design across participants with continuous acquisition probes to evaluate the effects of the intervention package on producing acquisition and maintenance of listening comprehension across four types of comprehension questions. Visual analysis and Tau-U effect size indicated that the intervention package was effective in producing acquisition and maintenance of listening comprehension in preschool children with ASD. Directions for future research and clinical implications for early education practice are discussed.

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12. Rice CE, Carpenter LA, Morrier MJ, Lord C, DiRienzo M, Boan A, Skowyra C, Fusco A, Baio J, Esler A, Zahorodny W, Hobson N, Mars A, Thurm A, Bishop S, Wiggins LD. Defining in Detail and Evaluating Reliability of DSM-5 Criteria for Autism Spectrum Disorder (ASD) Among Children. Journal of autism and developmental disorders. 2022.

This paper describes a process to define a comprehensive list of exemplars for seven core Diagnostic and Statistical Manual (DSM) diagnostic criteria for autism spectrum disorder (ASD), and report on interrater reliability in applying these exemplars to determine ASD case classification. Clinicians completed an iterative process to map specific exemplars from the CDC Autism and Developmental Disabilities Monitoring (ADDM) Network criteria for ASD surveillance, DSM-5 text, and diagnostic assessments to each of the core DSM-5 ASD criteria. Clinicians applied the diagnostic exemplars to child behavioral descriptions in existing evaluation records to establish initial reliability standards and then for blinded clinician review in one site (phase 1) and for two ADDM Network surveillance years (phase 2). Interrater reliability for each of the DSM-5 diagnostic categories and overall ASD classification was high (defined as very good .60-.79 to excellent ≥ .80 Kappa values) across sex, race/ethnicity, and cognitive levels for both phases. Classification of DSM-5 ASD by mapping specific exemplars from evaluation records by a diverse group of clinician raters is feasible and reliable. This framework provides confidence in the consistency of prevalence classifications of ASD and may be further applied to improve consistency of ASD diagnoses in clinical settings.

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13. Sheldrick RC, Carter AS, Eisenhower A, Mackie TI, Cole MB, Hoch N, Brunt S, Pedraza FM. Effectiveness of Screening in Early Intervention Settings to Improve Diagnosis of Autism and Reduce Health Disparities. JAMA pediatrics. 2022; 176(3): 262-9.

IMPORTANCE: The American Academy of Pediatrics recommends referring children at elevated risk of autism spectrum disorder (ASD) for Part C early intervention (EI) services, but notes that EI services often fail to provide ASD screening. OBJECTIVE: To evaluate the hypothesis that a multistage screening protocol for ASD implemented in 3 EI settings will increase autism detection, especially among Spanish-speaking families. DESIGN, SETTING, AND PARTICIPANTS: Difference-in-differences analyses with propensity score weighting of a quasi-experimental design using administrative data on 3 implementation EI agencies and 9 comparison EI agencies from 2012 to 2018 provided by the Massachusetts Department of Public Health. Eligible children were aged 14 to 36 months, enrolled in EI, had no prior ASD diagnosis or medical condition precluding participation, and had parents who spoke English or Spanish. The final analytic sample included 33 326 unique patients assessed across 150 200 person-quarters. EXPOSURES: Multistage ASD assessment protocol including ASD screening questionnaires, observational screener, and diagnostic evaluation. MAIN OUTCOMES AND MEASURES: Increased incidence of ASD diagnoses as documented in Department of Public Health records and reductions in language-associated health care disparities. RESULTS: Implementation of screening at 3 EI sites was associated with a significant increase in the rate of ASD diagnoses (incidence rate ratios [IRR], 1.6; 95% CI, 1.3-2.1; P < .001), representing an additional 8.1 diagnoses per 1000 children per quarter. Among Spanish-speaking families, screening was also associated with a significant increase in the rate of ASD diagnoses (IRR, 2.6; 95% CI, 1.6-4.3; P < .001), representing 15.4 additional diagnoses per 1000 children per quarter-a larger increase than for non-Spanish-speaking families (interaction IRR, 1.8; 95% CI, 1.0-3.1; P = .005). Exploratory analyses revealed that screening was associated with a larger increase in the rate of ASD diagnoses among boys (IRR, 1.8; 95% CI, 1.4-2.3; P < .001) than among girls (IRR, 1.1; 95% CI, 0.6-1.7; P = .84). CONCLUSIONS AND RELEVANCE: In this study, associations between increased rates of ASD diagnoses and reductions in disparities for Spanish-speaking households support the effectiveness of multistage screening in EI. This study provides a comprehensive evaluation of ASD screening in EI settings as well as a rigorous evaluation of ASD screening in any setting with a no-screening comparison condition. Given that the intervention included multiple components, mechanisms of action warrant further research, as do disparities by child sex.

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14. Sturner R, Howard B, Bergmann P, Attar S, Stewart-Artz L, Bet K, Allison C, Baron-Cohen S. Autism screening at 18 months of age: a comparison of the Q-CHAT-10 and M-CHAT screeners. Molecular autism. 2022; 13(1): 2.

BACKGROUND: Autism screening is recommended at 18- and 24-month pediatric well visits. The Modified Checklist for Autism in Toddlers-Revised (M-CHAT-R) authors recommend a follow-up interview (M-CHAT-R/F) when positive. M-CHAT-R/F may be less accurate for 18-month-olds than 24-month-olds and accuracy for identification prior to two years is not known in samples that include children screening negative. Since autism symptoms may emerge gradually, ordinally scoring items based on the full range of response options, such as in the 10-item version of the Quantitative Checklist for Autism in Toddlers (Q-CHAT-10), might better capture autism signs than the dichotomous (i.e., yes/no) items in M-CHAT-R or the pass/fail scoring of Q-CHAT-10 items. The aims of this study were to determine and compare the accuracy of the M-CHAT-R/F and the Q-CHAT-10 and to describe the accuracy of the ordinally scored Q-CHAT-10 (Q-CHAT-10-O) for predicting autism in a sample of children who were screened at 18 months. METHODS: This is a community pediatrics validation study with screen positive (n = 167) and age- and practice-matched screen negative children (n = 241) recruited for diagnostic evaluations completed prior to 2 years old. Clinical diagnosis of autism was based on results of in-person diagnostic autism evaluations by research reliable testers blind to screening results and using the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) Toddler Module and Mullen Scales of Early Learning (MSEL) per standard guidelines. RESULTS: While the M-CHAT-R/F had higher specificity and PPV compared to M-CHAT-R, Q-CHAT-10-O showed higher sensitivity than M-CHAT-R/F and Q-CHAT-10. LIMITATIONS: Many parents declined participation and the sample is over-represented by higher educated parents. Results cannot be extended to older ages. CONCLUSIONS: Limitations of the currently recommended two-stage M-CHAT-R/F at the 18-month visit include low sensitivity with minimal balancing benefit of improved PPV from the follow-up interview. Ordinal, rather than dichotomous, scoring of autism screening items appears to be beneficial at this age. The Q-CHAT-10-O with ordinal scoring shows advantages to M-CHAT-R/F with half the number of items, no requirement for a follow-up interview, and improved sensitivity. Yet, Q-CHAT-10-O sensitivity is less than M-CHAT-R (without follow-up) and specificity is less than the two-stage procedure. Such limitations are consistent with recognition that screening needs to recur beyond this age.

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15. Wallis KE, Abdul-Chani MM, Zuckerman KE. Screen Often and With Trusted Community Members to Improve Autism Identification for Latine Children. JAMA pediatrics. 2022; 176(3): 229-31.

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16. Xiao Y, Wen TH, Kupis L, Eyler LT, Goel D, Vaux K, Lombardo MV, Lewis NE, Pierce K, Courchesne E. Neural responses to affective speech, including motherese, map onto clinical and social eye tracking profiles in toddlers with ASD. Nature human behaviour. 2022; 6(3): 443-54.

Affective speech, including motherese, captures an infant’s attention and enhances social, language and emotional development. Decreased behavioural response to affective speech and reduced caregiver-child interactions are early signs of autism in infants. To understand this, we measured neural responses to mild affect speech, moderate affect speech and motherese using natural sleep functional magnetic resonance imaging and behavioural preference for motherese using eye tracking in typically developing toddlers and those with autism. By combining diverse neural-clinical data using similarity network fusion, we discovered four distinct clusters of toddlers. The autism cluster with the weakest superior temporal responses to affective speech and very poor social and language abilities had reduced behavioural preference for motherese, while the typically developing cluster with the strongest superior temporal response to affective speech showed the opposite effect. We conclude that significantly reduced behavioural preference for motherese in autism is related to impaired development of temporal cortical systems that normally respond to parental affective speech.

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17. Yoo SM, Kim KN, Kang S, Kim HJ, Yun J, Lee JY. Prevalence and Premature Mortality Statistics of Autism Spectrum Disorder Among Children in Korea: A Nationwide Population-Based Birth Cohort Study. Journal of Korean medical science. 2022; 37(1): e1.

BACKGROUND: The aim of this study was to estimate the 8-year prevalence and mortality statistics of autism spectrum disorder (ASD) according to birth year (2002-2012). METHODS: We used the National Health Insurance Service database with 4,989,351 children born from 2002 to 2012 including 35,529 children diagnosed with ASD until 8 years of age. The 8-year cumulative prevalence of ASD was calculated annually (2010-2020) with 8 years of follow-up. The 8-year mortality was estimated using Cox models adjusted for sex, household income, area of residence, and year of birth. RESULTS: Of the 473,494 children born in 2002, 2,467 (5.2 per 1,000 births) were diagnosed with ASD until 2010. The ASD prevalence was 2.6 times higher among boys (1,839; 7.4 per 1,000 boy births) than girls (628; 2.8 per 1,000 girl births). Of the 467,360 children born in 2012, 4,378 (9.4 per 1,000 births) were diagnosed with ASD until 2020. The ASD prevalence was 2.7 times higher among boys (3,246; 13.5 per 1,000 boy births) than girls (1,132; 5.0 per 1,000 girl births). The risk of all-cause mortality was higher among children with ASD than those without (hazard ratio [HR], 2.340; 95% confidence interval [CI], 2.063-2.654), which is substantially higher among girls (HR, 4.223; 95% CI, 3.472-5.135) than boys (HR, 1.774; 95% CI, 1.505-2.090). CONCLUSION: The present study demonstrated that national-level prevalence and mortality statistics of ASD can be estimated effectively using claims data comprising newborns born each year and followed up for to the age of interest. Because this information is essential to establish evidence-based policies, health authorities need to consider producing epidemiological information of ASD continuously using the same methodology.

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