1. Annear DJ, Vandeweyer G, Sanchis-Juan A, Raymond FL, Kooy RF. Non-Mendelian inheritance patterns and extreme deviation rates of CGG repeats in autism. Genome research. 2022.

As expansions of CGG short tandem repeats (STR) are established as the genetic etiology of many neurodevelopmental disorders, we aimed to elucidate the inheritance patterns and role of CGG STRs in autism-spectrum disorder (ASD). By genotyping 6,063 CGG STR loci in a large cohort of trios and quads with an ASD-affected proband we determined an unprecedented rate of CGG repeat length deviation across a single generation. While the concept of repeat length being linked to deviation rate was solidified, we demonstrate how shorter STRs display greater degrees of size variation. We observed that CGG STRs did not segregate by Mendelian principles, with a bias against longer repeats, which appeared to magnify as repeat length increased. Through logistic regression, we identified 19 genes that displayed significantly higher rates and degrees of CGG STR expansion within the ASD-affected probands (p < 1 x 10-5). This study not only highlights novel repeat expansions that may play a role in ASD but also reinforces the hypothesis that CGG STRs are specifically linked to human cognition.

Lien vers le texte intégral (Open Access ou abonnement)

2. Baker EK, Arpone M, Bui M, Kraan CM, Ling L, Francis D, Hunter MF, Rogers C, Field MJ, Santa María L, Faundes V, Curotto B, Morales P, Trigo C, Salas I, Alliende AM, Amor DJ, Godler DE. Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome. American journal of medical genetics Part A. 2022.

Fragile X syndrome (FXS) is caused by hypermethylation of the FMR1 promoter due to the full mutation expansion (full mutation [FM]: CGG ≥ 200 repeats) and silencing of FMR1. Assessment of mosaicism for active-unmethylated alleles has prognostic utility. This study examined relationships between FMR1 methylation in different tissues with FMR1 messenger ribonucleic acid (mRNA) and intellectual functioning in 87 males with FXS (1.89-43.17 years of age). Methylation sensitive Southern blot (mSB) and Methylation Specific-Quantitative Melt Aanalysis (MS-QMA) were used to examine FMR1 methylation. FMR1 mRNA levels in blood showed strong relationships with FMR1 methylation assessed using MS-QMA in blood (n = 68; R(2) = 0.597; p = 1.4 × 10(-10) ) and buccal epithelial cells (BEC) (n = 62; R(2) = 0.24; p = 0.003), with these measures also showing relationships with intellectual functioning scores (p < 0.01). However, these relationships were not as strong for mSB, with ~40% of males with only FM alleles that were 100% methylated and non-mosaic by mSB, showing methylation mosaicism by MS-QMA. This was confirmed through presence of detectable levels of FMR1 mRNA in blood. In summary, FMR1 methylation levels in blood and BEC examined by MS-QMA were significantly associated with FMR1 mRNA levels and intellectual functioning in males with FXS. These relationships were not as strong for mSB, which underestimated prevalence of mosaicism.

Lien vers le texte intégral (Open Access ou abonnement)

3. Bettoni R, Addabbo M, Ghidina C, Pezzana C, Vagni D, Turati C, Bulf H. Learning and generalization of repetition-based rules in autism. Psychological research. 2022.

Rule Learning (RL) allows us to extract and generalize high-order rules from a sequence of elements. Despite the critical role of RL in the acquisition of linguistic and social abilities, no study has investigated RL processes in Autism Spectrum Disorder (ASD). Here, we investigated RL in high-functioning autistic adolescents with ASD, examining whether their ability to extract and generalize rules from a sequence of visual elements is affected by the social vs. non-social nature of the stimulus and by visual working memory (WM). Using a forced-choice paradigm, ASD adolescents and typically developing (TD) peers were tested for their ability to detect and generalize high-order, repetition-based rules from visual sequences of simple non-social stimuli (shapes), complex non-social stimuli (inverted faces), and social stimuli (upright face). Both ASD and TD adolescents were able to generalize the rule they had learned to new stimuli, and their ability was modulated by the social nature of the stimuli and the complexity of the rule. Moreover, an association between RL and WM was found in the ASD, but not TD group, suggesting that ASD might have used additional or alternative strategies that relied on visual WM resources.

Lien vers le texte intégral (Open Access ou abonnement)

4. Clavenna A, Cartabia M, Fortino I, Leoni O, Bonati M. Delay in pharmacological treatment of autistic children after recognition of the disorder. European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology. 2022; 65: 54-5.

Lien vers le texte intégral (Open Access ou abonnement)

5. Clinical Genetics Group Of Medical Geneticist Branch Of Chinese Medical Doctor A, Clinical Genetics Group Of Medical Genetics Branch Of Chinese Medical A, Genetic Disease P, Control Group Of Professional Committee For Birth Defect P, Control Of Chinese Preventive Medicine A, Duan R, Li G, Xi H, Peng Y, Wu L. [Clinical practice guidelines for Fragile X syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2022; 39(11): 1181-6.

Fragile X syndrome (FXS) is the most common monogenic form of inherited intellectual disability and autism spectrum disorder (ASD). More than 99% of individuals with FXS are caused by the unstable expansion of CGG repeats located within the 5′-untranslated region of the FMR1 gene. The clinical features of FXS include various degrees of cognitive deficit, physical, behavioral and psychiatric problems. Early treatment and prevention from having further affected children can be guided by molecular genetic testing of the FMR1 gene. The following guideline has combined the relevant research, guidelines and consensus worldwide, and summarized the genetic knowledge and clinical treatment for FXS in order to achieve a standardized diagnosis, treatment and prevention for patients and families affected by this disease.

Lien vers le texte intégral (Open Access ou abonnement)

6. da Silva Moro J, Rodrigues TD, Kammer PV, de Camargo AR, Bolan M. Efficacy of the Video Modeling Technique as a Facilitator of Non-invasive Dental Care in Autistic Children: Randomized Clinical Trial. Journal of autism and developmental disorders. 2022.

This study aims to evaluate the video modeling technique during the dental appointment. A blinded randomized clinical trial was composed of 2 groups, consisting of 20 autistic children (4 to 12 years) in each group: control (did not watch the video before the consultation) and intervention (watched the video before the consultation). The primary outcome was the mean number of visits to perform a dental appointment. The number of consultations was analyzed by T-test or Mann-Whitney test. The results showed that the mean number of consultations in the intervention group was 1.5 (± 1.53) and in the control group 2 (± 1.77) (p ≤ 0.05). The video modeling technique can be effective in minimizing the number of dental consultations in autistic children.

Lien vers le texte intégral (Open Access ou abonnement)

7. Fujihira H, Itoi C, Furukawa S, Kato N, Kashino M. Sensitivity to interaural level and time differences in individuals with autism spectrum disorder. Scientific reports. 2022; 12(1): 19142.

Individuals with autism spectrum disorders (ASD) are reported to exhibit degraded performance in sound localization. This study investigated whether the sensitivity to the interaural level differences (ILDs) and interaural time differences (ITDs), major cues for horizontal sound localization, are affected in ASD. Thresholds for discriminating the ILD and ITD were measured for adults with ASD and age- and IQ-matched controls in a lateralization experiment. Results show that the ASD group exhibited higher ILD and ITD thresholds than the control group. Moreover, there was a significant diversity of ITD sensitivity in the ASD group, and it contained a larger proportion of participants with poor ITD sensitivity than the control group. The current study suggests that deficits in relatively low-level processes in the auditory pathway are implicated in degraded performance of sound localization in individuals with ASD. The results are consistent with the structural abnormalities and great variability in the morphology in the brainstem reported by neuroanatomical studies of ASD.

Lien vers le texte intégral (Open Access ou abonnement)

8. Hassan WM, Al-Dbass A, Al-Ayadhi L, Bhat RS, El-Ansary A. Author Correction: Discriminant analysis and binary logistic regression enable more accurate prediction of autism spectrum disorder than principal component analysis. Scientific reports. 2022; 12(1): 19049.

Lien vers le texte intégral (Open Access ou abonnement)

9. Heffler KF, Frome LR, Garvin B, Bungert LM, Bennett DS. Screen time reduction and focus on social engagement in autism spectrum disorder: A pilot study. Pediatrics international : official journal of the Japan Pediatric Society. 2022; 64(1): e15343.

BACKGROUND: There is growing concern regarding early screen media exposure and its potential effects on developmental delays including autism spectrum disorder (ASD). However, there is little research examining whether interventions can decrease screen media exposure and ASD behaviors among children with ASD. METHODS: Participants were nine children, 18 to 40 months old, with an ASD diagnosis who watched screens at least 2 h per day. Screen viewing history and weekly screen viewing and social interaction were assessed. The intervention involved a parent education program followed by weekly 1 h in-home support visits aimed at replacing screen time with social engagement time over a 6 month period. Child autism symptoms (Brief Observation of Social Communication Change), functional behavior (Vineland Adaptive Behavior Scales), and development (Mullen Scales of Early Learning) were assessed before and after intervention; parents completed questionnaires on parental stress (Autism Parenting Stress Index) and their perceptions of the intervention. RESULTS: Children’s screen viewing decreased from an average of 5.6 h/day prior to intervention to 5 min/day during the study. Significant improvements were observed in core autism symptoms and parental stress from pre- to post-intervention. CONCLUSIONS: Parent education and training/support to minimize screen time and increase social interaction for young children with ASD was tolerated well by parents and children. These promising preliminary results suggest that further research on early screen media viewing, ASD, and screen reduction intervention is warranted.

Lien vers le texte intégral (Open Access ou abonnement)

10. Hirsch J, Zhang X, Noah JA, Dravida S, Naples A, Tiede M, Wolf JM, McPartland JC. Neural correlates of eye contact and social function in autism spectrum disorder. PloS one. 2022; 17(11): e0265798.

Reluctance to make eye contact during natural interactions is a central diagnostic criterion for autism spectrum disorder (ASD). However, the underlying neural correlates for eye contacts in ASD are unknown, and diagnostic biomarkers are active areas of investigation. Here, neuroimaging, eye-tracking, and pupillometry data were acquired simultaneously using two-person functional near-infrared spectroscopy (fNIRS) during live « in-person » eye-to-eye contact and eye-gaze at a video face for typically-developed (TD) and participants with ASD to identify the neural correlates of live eye-to-eye contact in both groups. Comparisons between ASD and TD showed decreased right dorsal-parietal activity and increased right ventral temporal-parietal activity for ASD during live eye-to-eye contact (p≤0.05, FDR-corrected) and reduced cross-brain coherence consistent with atypical neural systems for live eye contact. Hypoactivity of right dorsal-parietal regions during eye contact in ASD was further associated with gold standard measures of social performance by the correlation of neural responses and individual measures of: ADOS-2, Autism Diagnostic Observation Schedule, 2nd Edition (r = -0.76, -0.92 and -0.77); and SRS-2, Social Responsiveness Scale, Second Edition (r = -0.58). The findings indicate that as categorized social ability decreases, neural responses to real eye-contact in the right dorsal parietal region also decrease consistent with a neural correlate for social characteristics in ASD.

Lien vers le texte intégral (Open Access ou abonnement)

11. Karavallil Achuthan S, Coburn KL, Beckerson ME, Kana RK. Amplitude of low frequency fluctuations during resting state fMRI in autistic children. Autism research : official journal of the International Society for Autism Research. 2022.

Resting state fMRI (rs-fMRI) provides an excellent platform for examining the amplitude of low frequency fluctuations (ALFF) and fractional amplitude of low frequency fluctuations (fALFF), which are key indices of brain functioning. However, ALFF and fALFF have been used only sporadically to study autism. rs-fMRI data from 69 children (40 autistic, mean age = 8.47 ± 2.20 years; age range: 5.2 to 13.2; and 29 non-autistic, mean age = 9.02 ± 1.97 years; age range 5.9 to 12.9) were obtained from the Autism Brain Imaging Data Exchange (ABIDE II). ALFF and fALFF were measured using CONN connectivity toolbox and SPM12, at whole-brain & network-levels. A two-sampled t-test and a 2 Group (autistic, non-autistic) × 7 Networks ANOVA were conducted to test group differences in ALFF and fALFF. The whole-brain analysis identified significantly reduced ALFF values for autistic participants in left parietal opercular cortex, precuneus, and right insula. At the network level, there was a significant effect of diagnostic group and brain network on ALFF values, and only significant effect of network, not group, on fALFF values. Regression analyses indicated a significant effect of age on ALFF values of certain networks in autistic participants. Such intrinsically different network-level responses in autistic participants may have implications for task-level recruitment and synchronization of brain areas, which may in turn impact optimal cognitive functioning. Moreover, differences in low frequency fluctuations of key networks, such as the DMN and SN, may underlie alterations in brain responses in autism that are frequently reported in the literature.

Lien vers le texte intégral (Open Access ou abonnement)

12. Li C, Zhang T, Li J. Identifying autism spectrum disorder in resting-state fNIRS signals based on multiscale entropy and a two-branch deep learning network. Journal of neuroscience methods. 2023; 383: 109732.

BACKGROUND: The demand for early and precise identification of autism spectrum disorder (ASD) presented a challenge to the prediction of ASD with a non-invasive neuroimaging method. NEW METHOD: A deep learning model was proposed to identify children with ASD using the resting-state functional near-infrared spectroscopy (fNIRS) signals. In this model, the input was the pattern of brain complexity represented by multiscale entropy of fNIRS time-series signals, with the purpose to solve the problem of deep learning analysis when the raw signals were limited by length and the number of subjects. The model consisted of a two-branch deep learning network, where one branch was a convolution neural network and the other was a long short-term memory neural network based on an attention mechanism. RESULTS: Our model could achieve an identification accuracy of 94%. Further analysis used the SHapley Additive exPlanations (SHAP) method to balance the accuracy and the number of optical channels, thus reducing the complexity of fNIRS experiment. COMPARISON WITH PREVIOUSLY USED METHOD(S): in identification accuracy, our model was about 14% higher than previously used deep learning models with the same input and 4% higher than the same model but directly using fNIRS signals as input. We could obtain a discriminative accuracy of 90% with nearly half of the measurement channels by the SHAP method. CONCLUSIONS: Using the pattern of brain complexity as input was effective in the deep learning model when the fNIRS signals were insufficient. With the SHAP method, it was possible to reduce the number of optical channels, while maintaining high accuracy in ASD identification.

Lien vers le texte intégral (Open Access ou abonnement)

13. Li J, Xu J, She M, Shi P, Kong X, Wang L. [Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Bainbridge-Ropers syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2022; 39(11): 1228-32.

OBJECTIVE: To explore the clinical features and genetic basis for a child with Bainbridge-Ropers syndrome (BRPS). METHODS: Clinical data of the child were retrospectively analyzed. Copy number variation sequencing (CNV-seq) and trio based whole exome sequencing (trio-WES) were carried out. Prenatal diagnosis was provided for a at risk fetus from the pedigree, and genotype phenotype correlation was summarized through a literature review. RESULTS: The proband, a 6-year-old boy, has presented with feeding difficulties, specific craniofacial features, global developmental delay and intellectual disability, which has not improved after rehabilitation treatment. CNV-seq analysis of the patient showed no obvious abnormalities. A de novo heterozygous truncating variation, c.1448dupT (p.T484Nfs*5), was identified in the ASXL3 gene by trio-WES, which was a previously reported pathogenic variant. So far 14 Chinese patients with BRPS and ASXL3 variants have been reported. All patients have shown specific craniofacial features and delayed motor and speech development, and harbored 12 loss of function ASXL3 variants, which were de novo in origin and have clustered in exons 11 and 12 of the ASXL3 gene. CONCLUSION: The heterozygous frameshift c.1448dupT (p.T484Nfs*5) variant of the ASXL3 gene probably underlay the disorder in this patient. BRPS should be considered in infants with feeding difficulties, special craniofacial features, global developmental delay and hand anomalies, and WES can help to delineate the pathogenesis and establish the definite diagnosis.

Lien vers le texte intégral (Open Access ou abonnement)

14. Li Y, Fan T, Li X, Liu L, Mao F, Li Y, Miao Z, Zeng C, Song W, Pan J, Zhou S, Sunday ME, Wang H, Wang Y, Sun ZS. Npas3 deficiency impairs cortical astrogenesis and induces autistic-like behaviors. Cell reports. 2022; 41(6): 111551.

Lien vers le texte intégral (Open Access ou abonnement)

15. Lin LZ, Ou XX, Zhan XL, Wang X, Cai L, Li XH, Jing J, Dong GH. Pre-conceptional and prenatal exposure to secondhand smoke and autism spectrum disorder: a national multi-center study in China. World journal of pediatrics : WJP. 2022.

BACKGROUND: Despite extensive research evaluating the association between prenatal exposure to secondhand smoke (SHS) and the development of autism spectrum disorders (ASD), no study has investigated the association by considering the pre-conceptional period. This study aimed to investigate the associations of pre-conceptional and prenatal SHS exposure and the development of ASD among toddlers. METHODS: In this cross-sectional study, parents of 6049 toddlers aged 16-30 months were recruited from 7 tertiary hospitals, 21 communities, and 7 kindergartens located in seven cities in six provinces from five geographical regions of China. We analyzed the associations of SHS exposure and the odds of ASD among toddlers in different exposure windows (pre-conceptional and/or prenatal periods). Data were analyzed from November 2021 to January 2022. RESULTS: Among the 6049 toddlers included in the analysis [22.7 (4.1) months; 44.8% girls], 71 were identified and diagnosed with ASD. Compared with the unexposed toddlers, toddlers with pre-conceptional SHS exposure had higher odds of ASD (OR 2.30, 95% CI 1.36-3.84), while we observed a non-significantly positive association regarding prenatal SHS exposure. When considering both pre-conceptional and prenatal periods, toddlers who were continuously exposed to SHS during these two periods had higher odds than those without SHS exposure (OR 2.32, 95% CI 1.24-4.14). CONCLUSION: We reported positive SHS-ASD associations when exposed during the pre-conceptional period and continuously exposed during pre-conceptional and prenatal periods, emphasizing the critical window of pre-conception for targeted intervention on smoking.

Lien vers le texte intégral (Open Access ou abonnement)

16. Mathée-Scott J, Ellis Weismer S. Naturalistic parent-child reading frequency and language development in toddlers with and without autism. Autism & developmental language impairments. 2022; 7: 23969415221136740.

BACKGROUND AND AIMS: The efficacy of parent-child reading for supporting language development has been well-established in the neurotypical (NT) literature. For children with autism spectrum disorder, (ASD) who may be at risk for delays in language development, prior research has shown promise for shared book-reading interventions. Yet there has been limited research on naturalistic parent-child reading with autistic children to date. The present study aimed to fill this missing link in the current literature. METHODS: Fifty-seven autistic toddlers participated at two developmental time points: Time 1 (Mage = 30.4 months) and Time 2 (Mage = 43.8 months). An NT control group (N = 31) was matched on age to a subset of the ASD group (N = 33). We assessed group differences in parent-child reading frequency between age-matched NT and autistic groups. Using a one-year follow-up design, we evaluated the relationship between parent-child reading and autistic children’s language development. RESULTS: Cross-group comparisons revealed that parents of age-matched NT children reported significantly more frequent weekly parent-child reading than parents of autistic toddlers. After a one-year follow-up with the autistic group, within-group analyses revealed that greater frequency of parent-child reading (controlling for maternal education, books in the home, and autism symptom severity) was associated with larger growth in autistic toddlers’ receptive and expressive language skills. CONCLUSIONS AND IMPLICATIONS: These findings have important clinical implications as they emphasize the potential of parent-child reading for supporting autistic children’s language development. Findings demonstrate that frequency of parent-child reading is associated with language development over one year. Findings also demonstrate that parents of autistic children engage in less frequent parent-child reading than parents of age-matched NT peers, suggesting these parents may face more barriers to implementing parent-child reading than parents of NT children.

Lien vers le texte intégral (Open Access ou abonnement)

17. Meyer-Lindenberg H, Moessnang C, Oakley B, Ahmad J, Mason L, Jones EJH, Hayward HL, Cooke J, Crawley D, Holt R, Tillmann J, Charman T, Baron-Cohen S, Banaschewski T, Beckmann C, Tost H, Meyer-Lindenberg A, Buitelaar JK, Murphy DG, Brammer MJ, Loth E. Facial expression recognition is linked to clinical and neurofunctional differences in autism. Molecular autism. 2022; 13(1): 43.

BACKGROUND: Difficulties in social communication are a defining clinical feature of autism. However, the underlying neurobiological heterogeneity has impeded targeted therapies and requires new approaches to identifying clinically relevant bio-behavioural subgroups. In the largest autism cohort to date, we comprehensively examined difficulties in facial expression recognition, a key process in social communication, as a bio-behavioural stratification biomarker, and validated them against clinical features and neurofunctional responses. METHODS: Between 255 and 488 participants aged 6-30 years with autism, typical development and/or mild intellectual disability completed the Karolinska Directed Emotional Faces task, the Reading the Mind in the Eyes Task and/or the Films Expression Task. We first examined mean-group differences on each test. Then, we used a novel intersection approach that compares two centroid and connectivity-based clustering methods to derive subgroups based on the combined performance across the three tasks. Measures and subgroups were then related to clinical features and neurofunctional differences measured using fMRI during a fearful face-matching task. RESULTS: We found significant mean-group differences on each expression recognition test. However, cluster analyses showed that these were driven by a low-performing autistic subgroup (~ 30% of autistic individuals who performed below 2SDs of the neurotypical mean on at least one test), while a larger subgroup (~ 70%) performed within 1SD on at least 2 tests. The low-performing subgroup also had on average significantly more social communication difficulties and lower activation in the amygdala and fusiform gyrus than the high-performing subgroup. LIMITATIONS: Findings of autism expression recognition subgroups and their characteristics require independent replication. This is currently not possible, as there is no other existing dataset that includes all relevant measures. However, we demonstrated high internal robustness (91.6%) of findings between two clustering methods with fundamentally different assumptions, which is a critical pre-condition for independent replication. CONCLUSIONS: We identified a subgroup of autistic individuals with expression recognition difficulties and showed that this related to clinical and neurobiological characteristics. If replicated, expression recognition may serve as bio-behavioural stratification biomarker and aid in the development of targeted interventions for a subgroup of autistic individuals.

Lien vers le texte intégral (Open Access ou abonnement)

18. Sherriff A, Stewart R, Macpherson LMD, Kidd JBR, Henderson A, Cairns D, Conway DI. Child oral health and preventive dental service access among children with intellectual disabilities, autism and other educational additional support needs: A population-based record linkage cohort study. Community dentistry and oral epidemiology. 2022.

OBJECTIVE: Inequalities in child oral health are a global challenge and the intersection of socioeconomic factors with educational additional support needs (ASN), including children with intellectual disabilities or autism, have thus far received limited attention in relatively small clinical studies. We aimed to address this evidence gap by investigating oral health and access to preventive dental services among children with ASN compared to the general child population. METHODS: Cohort study linking data from six Scotland-wide health and education databases compared: dental caries experience and tooth extraction via general anaesthetic; receipt of school-based dental inspection; access to primary care and hospital dental services; and access to the Childsmile national oral health improvement programme between children with a range of ASN (intellectual disabilities, autism, social and other) and their peers for the school years 2016/17-2018/19 (n = 166 781). RESULTS: Children with any ASN had higher rates of caries experience than those with no ASN, however, after adjustment for socioeconomic deprivation, sex, year, and school type only those with a social or other ASN remained at increased risk. Rates of tooth extraction under general anaesthesia in hospital were higher among children with intellectual disabilities (aRR = 1.67;95% CI = [1.16-2.37]). School-based dental inspection access improved for children with intellectual disability and/or autism from 2016/17 onwards, although higher rates of child refusal on the day were observed in these groups (no ASN refusal: 5.4%; intellectual disability: 35.8%; autism: 40.3%). Children with any ASN were less likely to attend primary dental-care regularly, and in those who attended, children with intellectual disability or autism were less likely than their peers to receive prevention (fluoride varnish, oral-hygiene instruction, or dietary advice). Childsmile nursery-supervised toothbrushing programme access among children with any ASN was similar to children with no ASN and children with intellectual disability (aRR = 1.27;95% CI = [1.12-1.45]) or autism (aRR = 1.32;95% CI = [1.19-1.45]) were more likely to receive support from Childsmile dental health support worker. CONCLUSIONS: We have identified inequalities in oral health and dental care for children with different ASN in Scotland with both a greater burden of disease among some groups and higher complexity of care; compounded by reduced and variable access to preventive dental services. Further efforts are needed to develop and improve preventive care pathways for children with ASN and integrate oral health to wider healthcare systems for these children to mitigate against oral health inequalities.

Lien vers le texte intégral (Open Access ou abonnement)

19. Smith JD, Nidey N, Chödrön GS, Czyzia J, Donahue ML, Ford K, James C, Klimova O, Macias MM, Rabidoux P, Whitaker TM, Brosco JP. A Quality Improvement Network for Interdisciplinary Training in Developmental Disabilities. Pediatrics. 2022; 150(6).

Children with developmental disabilities (DD), such as autism spectrum disorder (ASD), have complex health and developmental needs that require multiple service systems and interactions with various professionals across disciplines. The growing number of children and youth identified with ASD or DD, including anxiety and depression, has increased demand for services and need for highly qualified pediatric providers. Federally funded Leadership Education in Neurodevelopmental and related Disabilities (LEND) programs across the United States address today’s health care shortages by providing comprehensive, interdisciplinary training to providers from multiple pediatric disciplines who screen, diagnose, and treat those with ASD and DD. Each LEND program develops training methods independently, including quality improvement efforts. In 2014, LEND programs began designing and validating common measures to evaluate LEND training. The LEND Program Quality Improvement (LPQI) Network was established in 2016. Participating LEND programs in the LPQI Network administer validated trainee self-report and faculty-observation measures that address skills in key competency domains of Interdisciplinary or Interprofessional Team Building, Family-Professional Partnerships, and Policy. This study reports data from faculty and trainees from 22 LEND programs that participated in the LPQI Network across the 5-year data collection period. The main outcome of this study was the change in trainee knowledge, skills, and attitudes scores in key competency domains across programs. Overall, trainees made significant knowledge, skills, and attitude gains based on both self-report and faculty observation scores for all 3 competency domains. Data demonstrate the value of LEND programs and feasibility of a national quality improvement approach to evaluate interdisciplinary training and systems-level improvement.

Lien vers le texte intégral (Open Access ou abonnement)

20. Stein Duker LI, Goodman E, Pomponio Davidson A, Mosqueda L. Caregiver perspectives on barriers and facilitators to primary care for autistic adults: A qualitative study. Frontiers in medicine. 2022; 9: 1022026.

BACKGROUND: Primary care is associated with greater access to healthcare services and improved health outcomes. However, autistic adults report challenges accessing and utilizing primary care, in addition to unmet healthcare needs. The need to minimize existing barriers and identify strategies to facilitate successful healthcare encounters is increasingly important as autistic adults represent a growing segment of society. Minimal research has examined primary healthcare encounters for this population. METHODS: As part of a larger convergent parallel design mixed-methods study that recruited autistic adults, caregivers of autistic adults, and primary care providers treating autistic adults, interviews were conducted with 31 caregivers of autistic adults. Caregivers were predominantly female (94%), and the autistic adult they cared for were primarily male (87%), with a mean age of 24 years. Thematic analysis was employed to elucidate the barriers to care, suggestions to mitigate challenges, and/or successful strategies implemented during care encounters for autistic adults, as reported by their caregivers. RESULTS: Reported here are the results only from the caregiver interviews, in which seven themes emerged: (1) finding a primary care provider; (2) patient-provider communication; (3) anxiety due to unpredictability, an overstimulating sensory environment, and waiting time; (4) participation of consumers in the healthcare process; (5) stigma and assumptions about autism; (6) caregiver experiences; and (7) the impact of culture and ethnicity on care. CONCLUSION: Findings from this study have the potential to inform the development of, or improve existing, client-centered interventions to improve primary healthcare services for autistic adults.

Lien vers le texte intégral (Open Access ou abonnement)

21. Sun CK, Cheng YS, Chen IW, Chiu HJ, Chung W, Tzang RF, Fan HY, Lee CW, Hung KC. Impact of parental rheumatoid arthritis on risk of autism spectrum disorders in offspring: A systematic review and meta-analysis. Frontiers in medicine. 2022; 9: 1052806.

BACKGROUND: To investigate the association of risk of offspring autism spectrum disorder (ASD) with both maternal and paternal rheumatoid arthritis (RA). METHODS: The Embase, Medline, Cochrane Library databases were searched for studies that investigated the association of parental RA with risk of offspring ASD. The primary outcome was the associations of maternal/paternal RA with the risk of offspring ASD. Subgroup analyses were conducted based on the timing of maternal RA diagnosis (i.e., before/after childbirth) and geographical location (i.e., Western vs. Asian countries) of studies. RESULTS: Ten studies published between 2005 and 2022 involving 6,177,650 participants were analyzed. Pooled results revealed a significant association between maternal RA and the risk of ASD (OR = 1.246, p < 0.001, 10 studies), while there was no association of paternal RA with the risk of offspring ASD (OR = 1.104, p = 0.253, four studies). Subgroup analysis demonstrated no correlation between diagnosis of maternal RA before childbirth and the risk of offspring ASD (OR = 1.449, p = 0.192, four studies), while there was a significant association of maternal RA regardless of the timing of diagnosis with the risk of offspring ASD (OR = 1.227, p = 0.001, six studies). Subgroup analysis on geographical location showed a significant association of maternal RA with the risk of offspring ASD regardless of the study location (all p < 0.05). CONCLUSION: Our findings supported an association between maternal RA and an elevated risk of ASD in offspring. However, given the limited numbers of studies investigating the risk of offspring ASD in mothers diagnosed with RA before childbirth, further studies are warranted to elucidate this issue. SYSTEMATIC REVIEW REGISTRATION: [www.crd.york.ac.uk/prospero/], identifier [CRD42022358470].

Lien vers le texte intégral (Open Access ou abonnement)

22. Tak NGA. [Ontwikkelingsstoornissen bij volwassenen: het nut van de holistische theorie]. Tijdschrift voor psychiatrie. 2022; 64(9): 617-21.

During the diagnostic process of developmental disorders in adults, diagnosticians often encounter diagnostic uncertainty. In this article, I describe how the holistic theory can be employed in this context in order to prevent diagnostic reductionism. A fictitious vignette illustrates the method.

Lien vers le texte intégral (Open Access ou abonnement)

23. Trost B, Thiruvahindrapuram B, Chan AJS, Engchuan W, Higginbotham EJ, Howe JL, Loureiro LO, Reuter MS, Roshandel D, Whitney J, Zarrei M, Bookman M, Somerville C, Shaath R, Abdi M, Aliyev E, Patel RV, Nalpathamkalam T, Pellecchia G, Hamdan O, Kaur G, Wang Z, MacDonald JR, Wei J, Sung WWL, Lamoureux S, Hoang N, Selvanayagam T, Deflaux N, Geng M, Ghaffari S, Bates J, Young EJ, Ding Q, Shum C, D’Abate L, Bradley CA, Rutherford A, Aguda V, Apresto B, Chen N, Desai S, Du X, Fong MLY, Pullenayegum S, Samler K, Wang T, Ho K, Paton T, Pereira SL, Herbrick JA, Wintle RF, Fuerth J, Noppornpitak J, Ward H, Magee P, Al Baz A, Kajendirarajah U, Kapadia S, Vlasblom J, Valluri M, Green J, Seifer V, Quirbach M, Rennie O, Kelley E, Masjedi N, Lord C, Szego MJ, Zawati MH, Lang M, Strug LJ, Marshall CR, Costain G, Calli K, Iaboni A, Yusuf A, Ambrozewicz P, Gallagher L, Amaral DG, Brian J, Elsabbagh M, Georgiades S, Messinger DS, Ozonoff S, Sebat J, Sjaarda C, Smith IM, Szatmari P, Zwaigenbaum L, Kushki A, Frazier TW, Vorstman JAS, Fakhro KA, Fernandez BA, Lewis MES, Weksberg R, Fiume M, Yuen RKC, Anagnostou E, Sondheimer N, Glazer D, Hartley DM, Scherer SW. Genomic architecture of autism from comprehensive whole-genome sequence annotation. Cell. 2022; 185(23): 4409-27.e18.

Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which includes WGS data from 5,100 individuals with ASD and 6,212 non-ASD parents and siblings (total n = 11,312). Examining a wide variety of genetic variants in MSSNG and the Simons Simplex Collection (SSC; n = 9,205), we identified ASD-associated rare variants in 718/5,100 individuals with ASD from MSSNG (14.1%) and 350/2,419 from SSC (14.5%). Considering genomic architecture, 52% were nuclear sequence-level variants, 46% were nuclear structural variants (including copy-number variants, inversions, large insertions, uniparental isodisomies, and tandem repeat expansions), and 2% were mitochondrial variants. Our study provides a guidebook for exploring genotype-phenotype correlations in families who carry ASD-associated rare variants and serves as an entry point to the expanded studies required to dissect the etiology in the ∼85% of the ASD population that remain idiopathic.

Lien vers le texte intégral (Open Access ou abonnement)

24. Wang T, Kim CN, Bakken TE, Gillentine MA, Henning B, Mao Y, Gilissen C, Nowakowski TJ, Eichler EE. Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders. Proceedings of the National Academy of Sciences of the United States of America. 2022; 119(46): e2203491119.

Most genetic studies consider autism spectrum disorder (ASD) and developmental disorder (DD) separately despite overwhelming comorbidity and shared genetic etiology. Here, we analyzed de novo variants (DNVs) from 15,560 ASD (6,557 from SPARK) and 31,052 DD trios independently and also combined as broader neurodevelopmental disorders (NDDs) using three models. We identify 615 NDD candidate genes (false discovery rate [FDR] < 0.05) supported by ≥1 models, including 138 reaching Bonferroni exome-wide significance (P < 3.64e-7) in all models. The genes group into five functional networks associating with different brain developmental lineages based on single-cell nuclei transcriptomic data. We find no evidence for ASD-specific genes in contrast to 18 genes significantly enriched for DD. There are 53 genes that show mutational bias, including enrichments for missense (n = 41) or truncating (n = 12) DNVs. We also find 10 genes with evidence of male- or female-bias enrichment, including 4 X chromosome genes with significant female burden (DDX3X, MECP2, WDR45, and HDAC8). This large-scale integrative analysis identifies candidates and functional subsets of NDD genes.

Lien vers le texte intégral (Open Access ou abonnement)

25. Wei H, Li Y, Zhang Y, Luo J, Wang S, Dong Q, Tao Y, Gong L, Feng Y, Shi M, Cao Z, Liu Y, Chen L, Liu X, Dai Y, Qu L, Song Z, Chen J, Li T, Cheng Q. Awareness and knowledge of autism spectrum disorder in Western China: Promoting early identification and intervention. Frontiers in psychiatry. 2022; 13: 970611.

PURPOSE: Given the increasing prevalence of autism spectrum disorder (ASD) and the public health problems it creates; early identification and interventions are needed to improve the prognosis of ASD. Hence, this study surveyed different groups of people who are likely to have early contact with autistic children to provide an informed basis for early detection and effective diagnosis and interventions. METHODS: Three groups of people were recruited for the study from Changshou District and Wushan County of Chongqing, in Western China: 269 medical workers, 181 educators, and 188 community residents. Their understanding and knowledge of autism was measured using a self-made questionnaire. RESULTS: The positive finding was that the three groups had a certain level of understanding of autism, but they had some misunderstandings of the core problems, and there were significant differences in the understanding of autism among the three groups. Younger medical workers knew more about autism than older ones did. The ability of educators and community residents to identify autistic symptoms was positively related to their level of education and their experience with autistic children. Television and the internet were the main sources of information about autism for participants. CONCLUSIONS: The medical workers, educators, and community residents in the investigated areas in western China may be able to identify early signs of autism but have an inadequate understanding of autism. In areas far from cities, it is necessary to strengthen the training of medical workers in primary health care to promote autism screening and referral in educational institutions and communities. Using internet technology to provide public education and professional training about autism in remote areas could be a very promising method in Western China.

Lien vers le texte intégral (Open Access ou abonnement)

26. Wu S, Pan C, Yao L, Wu X. The Impact of the Urban Built Environment on the Play Behavior of Children with ASD. International journal of environmental research and public health. 2022; 19(22).

Anxiety caused by the lack of social skills is the biggest problem faced by children with ASD. Playing can improve children’s social skills and relieve anxiety. This study aimed to explore the influence of urban built environments on ASD children’s play behavior. The participants in this study were 57 parents of children with ASD. An anonymous questionnaire was used to collect and analyze data. At the same time, retrospective semi-structured interviews with 31 parents of ASD children were performed to validate the data analysis results. The results showed that lower residential building density, higher residential greening and higher destination accessibility have positive effects on ASD children’s play behavior. Excellent transportation facilities and high NDVI vegetation coverage have positive effects on the play behavior of children with ASD. More recreational facilities and recreational playability have positive impacts on the play behavior of children with ASD. The population density and number of children in the destination, as well as public facilities, influence the play behavior of children with ASD. The research results can promote the integration of this group into urban life and further promote social equity. At the same time, with the social needs of autistic children as an intermediary, it is expected to further explore new directions for sustainable urban development. Finally, combined with the research results, parents of ASD children are given proposals for how to increase the likelihood of children’s play behavior by choosing appropriate urban built environments.

Lien vers le texte intégral (Open Access ou abonnement)