1. Asfour MH, Abd El-Alim SH, Kassem AA, Salama A, Gouda AS, Nazim WS, Nashaat NH, Hemimi M, Abdel Meguid N. Vitamin D(3)-Loaded Nanoemulsions as a Potential Drug Delivery System for Autistic Children: Formulation Development, Safety, and Pharmacokinetic Studies. AAPS PharmSciTech. 2023; 24(2): 58.

The aim of the current study is the development of a vitamin D(3) (VD3)-loaded nanoemulsion (NE) formulation to improve VD3 oral bioavailability for management of vitamin D inadequacy in autistic children. Eight NE formulations were prepared by high-speed homogenization followed by ultrasonication. Four vegetable oils were employed along with two concentrations of Span 20 as the emulsifier. Glycerol, fructose, and mango flavor were included as viscosity modifier, sweetening, and flavoring agents, respectively. The prepared VD3-loaded NE formulations exhibited high drug content (> 98%), droplet size (DS) ranging from 61.15 to 129.8 nm with narrow size distribution, zeta potential values between - 9.83 and - 19.22 mV, and acceptable pH values (4.59-5.89). Storage stability showed that NE formulations underwent coalescence and phase separation during 6 months at room temperature, whereas at refrigerated conditions, formulations showed slight creaming. The optimum formulation (VD3-NE6) revealed a non-significant DS growth at refrigerated conditions and spherical morphology under transmission electron microscopy. VD3-NE6 did not produce any toxic effects to rats treated orally for 3 months, where normal blood picture and kidney and liver functions were observed compared to control rats. Also, serum calcium, oxidative stress, and apoptosis biomarkers remained within normal levels, indicating the safety of the optimum formulation. Furthermore, evaluation of VD3-NE6 oral bioavailability depicted a significant increase in AUC(0-72) and C(max) with decreased T(max) compared to plain VD3. The optimum formulation demonstrated improved stability, safety, and oral bioavailability indicating the potential for successful management of vitamin D deficiency in autistic children.

Lien vers le texte intégral (Open Access ou abonnement)

2. Bosman R, Thijs J. Language Preferences in the Dutch Autism Community: A Social Psychological Approach. Journal of autism and developmental disorders. 2023.

This research examined the preference for identity-first language (IFL) versus person-first language (PFL) among 215 respondents (M(age) = 30.24 years, SD = 9.92) from the Dutch autism community. We found that a stronger identification with the autism community and a later age of diagnosis predicted a stronger IFL preference and a weaker PFL preference. Both effects were mediated by the perceived consequences (justice to identity, prejudice reduction) of PFL. Participants’ own explanations were in line with these statistical analyses but also provided nuance to the IFL-PFL debate. Our results are consistent with the Social Identity Approach (Reicher et al., 2010) and Identity Uncertainty Theory (Hogg, 2007) and demonstrate the value of a social psychological approach to study disability language preferences.

Lien vers le texte intégral (Open Access ou abonnement)

3. Brara HS, Royse KE, Fennessy J, Harris JE, Guppy KH. Lateral Mass Screws Versus Pedicle Screws at C7 – Reoperation Rates for Adjacent Segment Disease (Operative ASD) and Nonunions (Operative Nonunions) in Posterior Cervical Fusions. Spine. 2023.

STUDY DESIGN: A retrospective cohort study. OBJECTIVE: To determine if there a difference in reoperation rates for symptomatic adjacent segment disease (operative ASD) and symptomatic nonunions (operative nonunions) in posterior cervical fusions (PCFs) stopping at C7 using either lateral mass screws (LMS) or cervical pedicle screws (CPS) at C7. SUMMARY OF BACKGROUND DATA: Stopping PCFs at C7 has been controversial because of the risks of adjacent segment disease or nonunions. The two commonly used fixation techniques at the C7 level are LMS and CPS. METHODS: A retrospective analysis from the Kaiser Permanente Spine Registry identified a cohort of patients with cervical degenerative disc disease who underwent primary PCFs stopping at C7 with either LMS or CPS at C7. Demographic and operative data were extracted from the registry and operative ASD and operative nonunions were adjudicated via chart review. Patients were followed until validated operative ASD or nonunion, membership termination, death, or end of study (03/31/2022). Descriptive statistics and multivariable Cox proportional hazards models were calculated for operative ASDs and operative nonunions. RESULTS: We found 481 patients with PCFs stopping at C7 with either LMS (n=347) or CPS (n=134) at C7 with average follow-up time of 5.6 (±3.8) years, time to operative ASD of 3.0 (±2.8) years and to operative nonunion of 1.2 (±0.7) years. There were 11 operative ASDs (LMS=8, CPS=3) and 8 operative nonunions (LMS=4, CPS=4). There was no statistical difference between patients stopping at C7 with LMS versus CPS for operative ASDs (HR: 0.68, 95% CI=0.17-2.77, P=0.60) or operative nonunions (HR: 2.09, 95% CI=0.45-8.58, P=0.37). CONCLUSION: A large cohort of patients with PCFs stopping at C7 with an average follow-up of > 5 years found no statistical difference in reoperation rates for symptomatic ASD (operative ASD) or operative nonunion using either LMS or CPS at C7.

Lien vers le texte intégral (Open Access ou abonnement)

4. Brown MI, Heck PR, Chabris CF. The Social Shapes Test as a Self-Administered, Online Measure of Social Intelligence: Two Studies with Typically Developing Adults and Adults with Autism Spectrum Disorder. Journal of autism and developmental disorders. 2023: 1-16.

The Social Shapes Test (SST) is a measure of social intelligence which does not use human faces or rely on extensive verbal ability. The SST has shown promising validity among adults without autism spectrum disorder (ASD), but it is uncertain whether it is suitable for adults with ASD. We find measurement invariance between adults with (n = 229) or without ASD (n = 1,049) on the 23-item SST. We also find that adults without ASD score higher on the SST than adults with ASD (d = 0.21). We also provide two, 14-item versions which demonstrated good parallel test-retest reliability and are positively related to scores on the Frith-Happé task. The SST is suitable for remote, online research studies.

Lien vers le texte intégral (Open Access ou abonnement)

5. Butera C, Kaplan J, Kilroy E, Harrison L, Jayashankar A, Loureiro F, Aziz-Zadeh L. The relationship between alexithymia, interoception, and neural functional connectivity during facial expression processing in autism spectrum disorder. Neuropsychologia. 2023; 180: 108469.

Neural processing differences of emotional facial expressions, while common in autism spectrum disorder (ASD), may be related to co-occurring alexithymia and interoceptive processing differences rather than autism per se. Here, we investigate relationships between alexithymia, interoceptive awareness of emotions, and functional connectivity during observation of facial expressions in youth (aged 8-17) with ASD (n = 28) compared to typically developing peers (TD; n = 37). Behaviorally, we found no significant differences between ASD and TD groups in interoceptive awareness of emotions, though alexithymia severity was significantly higher in the ASD group. In the ASD group, increased alexithymia was significantly correlated with lower interoceptive sensation felt during emotion. Using psycho-physiological interaction (PPI) analysis, the ASD group showed higher functional connectivity between the left ventral anterior insula and the left lateral prefrontal cortex than the TD group when viewing facial expressions. Further, alexithymia was associated with reduced left anterior insula-right precuneus connectivity and reduced right dorsal anterior insula-left ventral anterior insula connectivity when viewing facial expressions. In the ASD group, the degree of interoceptive sensation felt during emotion was positively correlated with left ventral anterior insula-right IFG connectivity when viewing facial expressions. However, across all participants, neither alexithymia nor interoceptive awareness of emotions predicted connectivity between emotion-related brain regions when viewing emotional facial expressions. To summarize, we found that in ASD compared to TD: 1) there is stronger connectivity between the insula and lateral prefrontal cortex; and 2) differences in interhemispheric and within left hemisphere connectivity between the insula and other emotion-related brain regions are related to individual differences in interoceptive processing and alexithymia. These results highlight complex relationships between alexithymia, interoception, and brain processing in ASD.

Lien vers le texte intégral (Open Access ou abonnement)

6. D’Mello AM, Frosch IR, Meisler SL, Grotzinger H, Perrachione TK, Gabrieli JDE. Diminished repetition suppression reveals selective and systems-level face processing differences in ASD. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2023.

Repeated exposure to a stimulus results in reduced neural response, or repetition suppression, in brain regions responsible for processing that stimulus. This rapid accommodation to repetition is thought to underlie learning, stimulus selectivity, and strengthening of perceptual expectations. Importantly, reduced sensitivity to repetition has been identified in several neurodevelopmental, learning, and psychiatric disorders including autism spectrum disorder (ASD) – a neurodevelopmental disorder characterized by challenges in social communication and repetitive behaviors and restricted interests. Reduced ability to exploit or learn from repetition in ASD is hypothesized to contribute to sensory hypersensitivities, and parallels several theoretical frameworks claiming that ASD individuals show difficulty using regularities in the environment to facilitate behavior. Using functional magnetic resonance imaging (fMRI) in autistic and neurotypical human adults (females and males), we assessed the status of repetition suppression across two modalities (vision, audition) and with four stimulus categories (faces, objects, printed words, and spoken words). ASD individuals showed domain-specific reductions in repetition suppression for face stimuli only, but not for objects, printed words, or spoken words. Reduced repetition suppression for faces was associated with greater challenges in social communication in ASD. We also found altered functional connectivity between atypically adapting cortical regions and higher-order face recognition regions and microstructural differences in related white matter tracts in ASD. These results suggest that fundamental neural mechanisms and system-wide circuits are selectively altered for face processing in ASD and enhance our understanding of how disruptions in the formation of stable face representations may relate to higher-order social communication processes.SIGNIFICANCE STATEMENTA common finding in neuroscience is that repetition results in plasticity in stimulus-specific processing regions, reflecting selectivity and adaptation (repetition suppression, RS). RS is reduced in several neurodevelopmental and psychiatric disorders, including autism spectrum disorder (ASD). Theoretical frameworks of ASD posit that reduced adaptation may contribute to associated challenges in social communication and sensory processing. However, the scope of RS differences in ASD are unknown. We examined RS for multiple categories across visual and auditory domains (faces, objects, printed words, spoken words) in autistic and neurotypical individuals. We found reduced RS in ASD for face stimuli only and altered functional connectivity and white matter microstructure between cortical face-recognition areas. RS magnitude correlated with social communication challenges among autistic individuals.

Lien vers le texte intégral (Open Access ou abonnement)

7. Fernell E, Gillberg C. Autism under the umbrella of ESSENCE. Frontiers in psychiatry. 2023; 14: 1002228.

This brief article gives a short overview of « comorbidity » in autism. The most common co-occurring disorders will be presented and discussed within the context of ESSENCE (Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations), a concept that provides a holistic perspective for neurodevelopmental disorders. The ESSENCE concept also considers the heterogeneous and changing clinical panorama of developmental disorders over time, and also the multifactorial etiologies, including so called behavioral phenotype syndromes. Aspects on behavioral interventions in autism are presented-interventions that need to be adapted and take into account all non-autism associated ESSENCE, including intellectual disability and Attention-Deficit/Hyperactivity Disorder (ADHD). The article also focuses on current research on pharmacological intervention based on the hypothesis of imbalance in excitatory/inhibitory transmitter systems in autism and some other ESSENCE.

Lien vers le texte intégral (Open Access ou abonnement)

8. Gonzales CW, Simonell JR, Lai MHC, Lopez SR, Tarbox J. The Impacts of the COVID-19 Pandemic on Therapy Utilization Among Racially/Ethnically and Socio-Economically Diverse Autistic Children. Journal of autism and developmental disorders. 2023: 1-16.

PURPOSE: The purpose of current study was to evaluate change in hours of Applied Behavior Analysis (ABA) therapy utilization for autistic children during the year prior to the COVID-19 pandemic, the first three months of the pandemic (crisis phase), and the following 9 months of the pandemic (mitigation phase). Additionally, this study aimed to evaluate if change in therapy utilization differed based on child race, ethnicity, and primary payer of services. Finally, we aimed to identify potential mechanisms of ABA therapy disruption by interpreting findings using an extended version of Donabedian’s structure-process-outcome model. METHODS: Retrospective clinical data on client demographics and therapy utilization (n = 283) were collected from ABA clinics in California and analyzed with four piecewise growth multi-level models. RESULTS: We found that therapy utilization dropped during the first three months of the pandemic (-10.65 h/month; p < .001) and increased during the following 9 months (2.39 h/month; p < .001). Moderator analyses revelated that Asian, Non-Latinx and school-district funded children had significantly different trajectories of change in therapy utilization compared to white, non-Latinx participants and private insurance funded participants, respectively. CONCLUSION: Findings suggest that utilization of ABA therapy was disrupted for a full year following the onset of the COVID-19 pandemic and that child race/ethnicity and primary payer influenced the degree to which autistic children were impacted by service disruption. These findings have implications for autistic children who lost therapy access during key developmental periods and for the ABA care delivery system.

Lien vers le texte intégral (Open Access ou abonnement)

9. Kahng S, Butler C, Kronfli FR, Zaki-Scarpa C, Boragi B, Scott J. An individualized approach to teaching adults with autism to successfully navigate job interviews via remote instruction. Journal of applied behavior analysis. 2023.

Adults with autism spectrum disorder (ASD) experience challenges securing employment, which may partially explain overall underemployment or unemployment in this population. One of the first steps to obtaining employment is participating in a job interview. However, social communication deficits may interfere with an individual with ASD’s participation in a job interview. The current study evaluated the use of behavioral skills training delivered via remote instruction to teach interview skills to seven adults with ASD. Results showed overall improvement during interviews as well as posttraining tests with a career development expert. These data suggest that an individualized approach to teaching may be an effective strategy to help adults with ASD successfully navigate job interviews.

Lien vers le texte intégral (Open Access ou abonnement)

10. Li Q, Perera D, Cao C, He J, Bian J, Chen X, Azeem F, Howe A, Au B, Wu J, Yan J, Long Q. Interaction-integrated linear mixed model reveals 3D-genetic basis underlying Autism. Genomics. 2023: 110575.

Genetic interactions play critical roles in genotype-phenotype associations. We developed a novel interaction-integrated linear mixed model (ILMM) that integrates a priori knowledge into linear mixed models. ILMM enables statistical integration of genetic interactions upfront and overcomes the problems of searching for combinations. To demonstrate its utility, with 3D genomic interactions (assessed by Hi-C experiments) as a priori, we applied ILMM to whole-genome sequencing data for Autism Spectrum Disorders (ASD) and brain transcriptome data, revealing the 3D-genetic basis of ASD and 3D-expression quantitative loci (3D-eQTLs) for brain tissues. Notably, we reported a potential mechanism involving distal regulation between FOXP2 and DNMT3A, conferring the risk of ASD.

Lien vers le texte intégral (Open Access ou abonnement)

11. Liu P, Zhao Y, Xiong W, Pan Y, Zhu M, Zhu X. Degradation of Perineuronal Nets in the Cerebellar Interpositus Nucleus Ameliorated Social Deficits in Shank3-deficient Mice. Neuroscience. 2023; 511: 29-38.

Perineuronal nets (PNNs) are structures that contain extracellular matrix chondroitin sulfate proteoglycan and surround the soma and dendrites of various neuronal cell types. They are involved in synaptic plasticity and undertake important physiological functions. Altered expression of PNNs has been demonstrated in the brains of autism-related animal models. However, the underlying mechanism is still unknown. In this study, we demonstrated that the PNNs in the cerebellum are involved in modulating social and repetitive/inflexible behaviors in Shank3B(-/-) mice, an established animal model of autism spectrum disorder. First, we performed wisteria floribunda agglutinin staining of the whole brain of Shank3B(-/-) mice, and found wisteria floribunda agglutinin-positive PNNs are significantly increased in the cerebellar interpositus nucleus (IntP) in Shank3B(-/-) mice compared to control littermates. After degradation of PNNs in the IntP by chondroitinase ABC, the repetitive behaviors of Shank3B(-/-) mice were decreased, while their social behaviors were ameliorated. These results suggested that PNNs homeostasis is involved in the regulation of social behavior, revealing a potential therapeutic strategy targeting PNNs in the IntP for the treatment of autism spectrum disorder.

Lien vers le texte intégral (Open Access ou abonnement)

12. Liu Z, Yang X, Guo P, Wang F, Xia W, Chen Y, Zou M, Sun C. The association between gene polymorphisms in voltage-gated potassium channels Kv2.1 and Kv4.2 and susceptibility to autism spectrum disorder. Frontiers in psychiatry. 2022; 13: 994166.

BACKGROUND: Autism spectrum disorder (ASD) is a heritable form of neurodevelopmental disorder that arises through synaptic dysfunction. Given the involvement of voltage-gated potassium (Kv) channels in the regulation of synaptic plasticity, we aimed to explore the relationship between the genetic variants in the KCNB1 and KCND2 genes (encoding Kv2.1 and Kv4.2, respectively) and the risk of developing ASD. METHODS: A total of 243 patients with ASD and 243 healthy controls were included in the present study. Sixty single nucleotide polymorphisms (SNPs) (35 in KCNB1 and 25 in KCND2) were genotyped using the Sequenom Mass Array. RESULTS: There were no significant differences in the distribution of allele frequencies and genotype frequencies in KCNB1 between cases and controls. However, the differences were significant in the allelic distribution of KCND2 rs1990429 (p (Bonferroni) < 0.005) and rs7793864 (p (Bonferroni) < 0.005) between the two groups. KCND2 rs7800545 (p (FDR) = 0.045) in the dominant model and rs1990429 (p (FDR) < 0.001) and rs7793864 (p (FDR) < 0.001) in the over-dominant model were associated with ASD risk. The G/A genotype of rs1990429 in the over-dominant model and the G/A-G/G genotype of rs7800545 in the dominant model were correlated with lower severity in the Autism Diagnostic Interview-Revised (ADI-R) restricted repetitive behavior (RRB) domain. CONCLUSION: Our results provide evidence that KCND2 gene polymorphism is strongly associated with ASD susceptibility and the severity of RRB.

Lien vers le texte intégral (Open Access ou abonnement)

13. Lundin Remnélius K, Bölte S. Camouflaging in Autism: Age Effects and Cross-Cultural Validation of the Camouflaging Autistic Traits Questionnaire (CAT-Q). Journal of autism and developmental disorders. 2023.

Given that camouflaging has been suggested to contribute to delayed diagnosis and mental health problems among autistic people, validated measures of the construct are needed. This study describes the psychometric evaluation of the Swedish adaptation of the self-reported Camouflaging Autistic Traits Questionnaire (CAT-Q) in autistic (n = 100) and general population (n = 539) samples aged 10 to 83 years. Analyses indicated good-to-excellent internal consistency and test-retest reliability. Construct validity was supported by autistic participants scoring higher than non-autistic, and autistic females scoring higher than autistic males on the measure. Also as expected, camouflaging was associated with theoretically linked traits, including autistic behaviors and depressive symptoms. On the other hand, the factor structure of the original CAT-Q did not provide a good fit in the Swedish data set, and validity issues were found, particularly in children younger than 15 years, warranting further investigation of the construct validity of the scale. Different age trajectories were observed, where camouflaging behaviors decreased during adulthood in non-autistic people but remained at an elevated level among autistic people.

Lien vers le texte intégral (Open Access ou abonnement)

14. Milea-Milea AC, Fernández-Pérez D, Toledano-González A. The psychological impact of the COVID-19 pandemic on children/adolescents with ASD and their family environment: a systematic review. European child & adolescent psychiatry. 2023: 1-26.

The main objective of the review is to analyze the impact of the pandemic in children/teenagers with Autism spectrum disorder (ASD) and in their family environment. An electronic search was carried out in different databases (PsycInfo, Web of Science and Scopus) in order to find publications associated with the aim of this project. The search terms used were derived from the combination of the following search string: « ((Pandemic OR Epidemic OR Outbreak OR COVID-19 OR Coronavirus) AND (Children OR Adolescents OR Youth OR Child OR Teenager) AND (Autism OR ASD OR Autism Spectrum Disorder)) ». In total, 21 articles were included in this review. The findings of the different investigations included in this review show that the pandemic has produced a negative psychological impact in children/teenagers with ASD. Therefore, long-term follow-up studies should be carried out with the objective of creating effective interventions to treat this problematical.

Lien vers le texte intégral (Open Access ou abonnement)

15. Moseley RL, Atkinson C, Surman R, Greville-Harris M, May L, Vuillier L. Sex-specific mechanisms for eating disorder risk in men and women with autistic traits: the role of alexithymia. Journal of eating disorders. 2023; 11(1): 18.

BACKGROUND: A poorly understood relationship exists between eating disorders (ED) and autism spectrum conditions (ASC: henceforth ‘autism’). ED are more prevalent in autistic people and people with high autistic traits, and autistic features are prognostic of longer illness. Aiming to understand what increases the risk of ED in relation to autism and autistic traits, previous research has implicated alexithymia as a causal mechanism in this relationship. These studies could not, however, disentangle whether alexithymia explains the relationship between ED pathology and autistic traits directly or through its impact on anxious/depressive symptoms, which in turn result in higher ED symptomatology. Moreover, despite evidence for sex differences in the aetiology of ED, little research has examined the impact of sex on these relationships. METHODS: Focusing on the association between autistic traits and ED psychopathology, we examined independent mediating effects of alexithymia and anxious/depressive symptoms, as well as sequential mediation effects where alexithymia affects ED psychopathology via its impact on anxious/depressive symptoms. Participants were 198 men and 265 women with formally diagnosed and suspected ED, who completed an online survey of standardised scales. RESULTS: In men, higher autistic traits were associated with ED psychopathology sequentially via greater alexithymia and through that, greater depressive/anxious symptoms. In women, alexithymia mediated the relationship between autistic traits and ED psychopathology both directly and sequentially through its impact on anxious/depressive symptoms. Interestingly, depressive/anxious symptoms also mediated that relationship independently from alexithymia. CONCLUSIONS: While cross-sectional, these findings suggest that the relationship between autistic traits and ED symptomatology is mediated by other variables. In support of its proposed role in the aetiology of ED, alexithymia was directly associated with ED symptoms in women. It also affected ED symptoms indirectly, in all participants, via its effect on depressive/anxious symptoms. Interventions focusing on alexithymia may facilitate recovery not only via their effect on ED, but via their effect on other forms of state psychopathology which contribute to the maintenance and development of ED. Sex differences, however, reflect that alternative therapeutic targets for men and women may be beneficial. Autistic individuals seem to be at higher risk of developing eating disorders (ED)—even just having autistic traits seems to elevate risk of ED, although we do not understand why. One possibility is that autism and autistic traits are closely related to alexithymia, a difficulty identifying and describing your emotions, and it may be this that increases risk of ED. To test this, we explored relationships between autistic traits and ED symptoms in men and women with ED, who completed an online survey. In men, we found that autistic traits were associated with ED symptoms because they were associated with alexithymia, and alexithymia was associated with ED symptoms because it was associated with anxious/depressive symptoms. The same was true in women, but anxious/depressive symptoms were also associated with ED symptoms in their own right. While these findings need to be investigated in more thorough longitudinal approaches, they suggest that pathways to ED differ slightly between men and women, autistic and non-autistic, and that therapeutic interventions should also differ. In both sexes, the fact that alexithymia was associated with ED symptoms and those of other mental illnesses that seemed to contribute to ED, suggests that it should be targeted in interventions. eng.

Lien vers le texte intégral (Open Access ou abonnement)

16. Mushtaq A, Mir US, Altaf M. Multifaceted functions of RNA binding protein Vigilin in gene silencing, genome stability, and autism related disorders. The Journal of biological chemistry. 2023: 102988.

RNA binding proteins (RBPs) are emerging as important players in regulating eukaryotic gene expression and genome stability. Specific RBPs have been shown to mediate various chromatin-associated processes ranging from transcription to gene silencing and DNA repair. One of the prominent classes of RNA binding proteins is the KH domain-containing proteins. Vigilin, an evolutionarily conserved KH domain-containing RNA binding protein has been shown to be associated with diverse biological processes like RNA transport and metabolism, sterol metabolism, chromosome segregation, and carcinogenesis. We have previously reported that vigilin is essential for heterochromatin-mediated gene silencing in fission yeast. More recently, we have identified that vigilin in humans plays a critical role in efficient repair of DNA double strand breaks and functions in homology-directed DNA repair. In this review, we highlight the multifaceted functions of vigilin and discuss the findings in the context of gene expression, genome organization, cancer, and autism related disorders.

Lien vers le texte intégral (Open Access ou abonnement)

17. Oyetoro R, Wiemer L, Bardhi O, Louis M, Jacob R. Special Considerations for Management of Diabetes in Adult Patients with Intellectual and Developmental Disabilities. Advances in medicine. 2023; 2023: 2955772.

Diabetes mellitus (DM) is a chronic health condition that is very prevalent worldwide. It has been demonstrated that individuals with intellectual and developmental disabilities (IDDs) are at a disproportionately high risk for developing diabetes. Persons with IDDs are estimated to be 2-3 times more likely to develop DM compared to the general population. The elevated risk of developing diabetes within the population of adults with IDDs is multifactorial and includes contributions from genetics, lifestyle, medication use and misuse, boundaries to appropriate medical care, a higher incidence of comorbid mental health disorders, and others. Further, inadequate screening for and management of diabetes for these patients results in heightened risk for adverse cardiovascular events and inferior health care outcomes. To improve patient outcomes for this unique patient population, health care providers need to be well trained in the optimal modalities of screening, diagnosis, and management of diabetes in adults with IDDs. This requires the development of effective diabetes intervention and health promotion programs aimed at patients with IDDs, utilizing a patient-centered approach to screening and management, and conducting further research to assess the impact of these interventions.

Lien vers le texte intégral (Open Access ou abonnement)

18. Pirinen V, Loukusa S, Dindar K, Mäkinen L, Hurtig T, Jussila K, Mattila ML, Eggers K. A Comprehensive Analysis of Speech Disfluencies in Autistic Young Adults and Control Young Adults: Group Differences in Typical, Stuttering-Like, and Atypical Disfluencies. Journal of speech, language, and hearing research : JSLHR. 2023: 1-17.

PURPOSE: The purpose of this study was to examine the nature of speech disfluencies in autistic young adults and controls by using a wide-range disfluency classification of typical disfluencies (TD; i.e., filled pauses, revisions, abandoned utterances, and multisyllable word and phrase repetitions), stuttering-like disfluencies (SLD; i.e., sound and syllable repetitions, monosyllable word repetitions, prolongations, blocks, and broken words), and atypical disfluencies (AD; i.e., word-final prolongations and repetitions and atypical insertions). METHOD: Thirty-two autistic young adults and 35 controls completed a narrative telling task based on socially complex events. Frequencies of total disfluencies, TD, SLD, AD and stuttering severity were compared between groups. RESULTS: The overall frequency of disfluencies was significantly higher in the autistic group and significant between-group differences were found for all disfluency categories. The autistic group produced significantly more revisions, filled pauses, and abandoned utterances, and each subtype of SLD and AD than the control group. In total, approximately every fourth autistic participants scored at least a very mild severity of stuttering, and every fifth produced more than three SLD per 100 syllables. CONCLUSIONS: Disfluent speech can be challenging for effective communication. This study revealed that the speech of autistic young adults was highly more disfluent than that of the controls. The findings provide information on speech disfluency characteristics in autistic young adults and highlight the importance of evaluating speech disfluency with a wide-range disfluency classification in autistic persons in order to understand their role in overall communication. The results of this study offer tools for SLPs to evaluate and understand the nature of disfluencies in autistic persons.

Lien vers le texte intégral (Open Access ou abonnement)

19. Rast JE, Fernandes SJ, Schott W, Shea LL. Disparities by Race and Ethnicity in Inpatient Hospitalizations Among Autistic Adults. Journal of autism and developmental disorders. 2023.

This study examined hospitalizations in a large, all-payer, nationally representative sample of inpatient hospitalizations in the US and identified differences in rates of hospitalization for conditions by race and ethnicity in autistic adults. Conditions examined included mood disorders, epilepsy, schizophrenia, and ambulatory care sensitive conditions (ACSCs). Compared to white, non-Hispanic autistic adults, Black, Hispanic, Asian or Pacific Islander (API), and autistic adults of another race had lower prevalence of admission for a principal diagnosis of a mood disorder. Conversely, Black, Hispanic, API, and autistic adults of another race had higher odds of admission for epilepsy than white autistic adults. Black and Hispanic autistic adults were more likely to have schizophrenia as a principal diagnosis compared to white autistic adults, but only Black autistic adults had increased odds for admission for an ACSCs compared to white autistic adults. Differences in diagnosis prevalence among hospitalized autistic adults may suggest differential access to comprehensive outpatient care that could prevent such hospitalizations, while also pointing to concerns of differential validity of diagnostic tools and treatment approaches. Insurance policy and programs should prioritize optimizing outpatient care to ensure access to care and emphasize the need for equitable treatment.

Lien vers le texte intégral (Open Access ou abonnement)

20. Shui AM, Lampinen LA, Richdale A, Katz T. Predicting future sleep problems in young autistic children. Autism : the international journal of research and practice. 2023: 13623613231152963.

Sleep problems are common in autistic children and negatively impact daytime functioning. A method for predicting sleep problems could help with treatment and prevention of such problems. This study aimed to determine predictors of sleep problems among young autistic children. Study participants consisted of autistic children aged 2-5 years who did not have sleep problems at a first visit (Autism Treatment Network Registry) and had sleep data available at a subsequent visit (Registry Call-Back Assessment study). Sleep problems for five study cohorts of children were defined by different methods, including parent questionnaires and parent- or clinician-report of sleep problems. We found that self-injurious behavior, sensory issues, dental problems, and lower primary caregiver education level were significant risk factors of future sleep problems. These predictors may help clinicians provide prevention or earlier treatment for children who are at risk of developing sleep problems.

Lien vers le texte intégral (Open Access ou abonnement)

21. Wang X, Weng X, Pan N, Li X, Lin L, Jing J. Prevalence of Autism Spectrum Disorder in the United States is Stable in the COVID-19 Era. Journal of autism and developmental disorders. 2023: 1-4.

Although the United States (US) have been monitoring the autism spectrum disorder (ASD) prevalence, whether the prevalence has continued to increase, decrease, fluctuate or reached a stable level remained unclear during the COVID-19 pandemic. We have requested the 2016-2021 National Survey of Children’s Health (NSCH) data in the United States to estimate weighted ASD prevalence and assess linearity/nonlinearity in the time trend. We did not observe linear or nonlinear trends of the ASD prevalence during the 2016-2021 periods. The current ASD prevalence experienced a 0.3% drop from 2019 to 2020 but a 0.3% uptick in 2021, suggesting a stable trend during the COVID-19 pandemic. Our findings shed lights on the need for the modified strategy of monitor ASD prevalence during the COVID-19 era.

Lien vers le texte intégral (Open Access ou abonnement)

22. Zamzow R. Autism researchers face off over language. Science (New York, NY). 2023; 379(6632): 523-4.

Terminology dispute underscores divide about what direction the field should take.

Lien vers le texte intégral (Open Access ou abonnement)

23. Zhang G, Li S, Yang L, Wang M, Chen G, Zhu D. [Analysis of NOVA2 gene variant in a child with Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2023; 40(2): 213-6.

OBJECTIVE: To explore the genetic basis for a child with Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NEDASB). METHODS: A child with NEDASB who presented at the Third Affiliated Hospital of Zhengzhou University in July 2021 was selected as the subject. Peripheral blood samples of the child and her parents were collected and subjected to high-throughput sequencing. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: The child was found to harbor a heterozygous c.820_828delinsCTTCA (p.Thr274Leufs*121) variant of the NOVA2 gene, for which both of her parents were of wild type. The variant was predicted as pathogenic based on the guidelines from the American College of Medical Genetics and Genomics. CONCLUSION: The heterozygous c.820_828delinsCTTCA (p.Thr274Leufs*121) variant of the NOVA2 gene probably underlay the disease in this child. Above finding has enriched the spectrum of NOVA2 gene variants and provided a basis for genetic counseling and prenatal diagnosis for this family.

Lien vers le texte intégral (Open Access ou abonnement)