1. Al-Beltagi M, Saeed NK, Bediwy AS, Alhawamdeh R, Qaraghuli S. Effects of COVID-19 on children with autism. World journal of virology. 2022; 11(6): 411-25.

The coronavirus disease 2019 (COVID-19) pandemic affects all countries and populations worldwide, significantly impacting people with autism with a high risk of morbidity and mortality due to COVID-19. Approximately 25% of children with autism have an asymptomatic or symptomatic immune deficiency or dysfunction. In addition, they frequently have various comorbid conditions that increase the severity of COVID-19. In addition, severe COVID-19 during pregnancy may increase the risk of autism in the offspring. Furthermore, severe acute respiratory syndrome coronavirus 2 could target human nervous system tissues due to its neurotrophic effects. The COVID-19 pandemic intensely impacts many patients and families in the autism community, especially the complex management of autism-associated disorders during the complete lockdown. During the complete lockdown, children with autism had difficulties coping with the change in their routine, lack of access to special education services, limited physical space available, and problems related to food and sleep. Additionally, children with autism or intellectual disabilities are more liable to be abused by others during the pandemic when the standard community supports are no longer functioning to protect them. Early detection and vaccination of children with autism against COVID-19 are highly indicated. They should be prioritized for testing, vaccination, and proper management of COVID-19 and other infectious diseases. In this review, we discuss the various effects of COVID-19 on children with autism, the difficulties they face, the increased risk of infection during pregnancy, how to alleviate the impact of COVID-19, and how to correct the inequalities in children with autism.

Lien vers le texte intégral (Open Access ou abonnement)

2. Bishop L, Charlton RA, McLean KJ, McQuaid GA, Lee NR, Wallace GL. Cardiovascular disease risk factors in autistic adults: The impact of sleep quality and antipsychotic medication use. Autism research : official journal of the International Society for Autism Research. 2022.

Approximately 40% of American adults are affected by cardiovascular disease (CVD) risk factors (e.g., high blood pressure, high cholesterol, diabetes, and overweight or obesity), and risk among autistic adults may be even higher. Mechanisms underlying the high prevalence of CVD risk factors in autistic people may include known correlates of CVD risk factors in other groups, including high levels of perceived stress, poor sleep quality, and antipsychotic medication use. A sample of 545 autistic adults without intellectual disability aged 18+ were recruited through the Simons Foundation Powering Autism Research, Research Match. Multiple linear regression models examined the association between key independent variables (self-reported perceived stress, sleep quality, and antipsychotic medication use) and CVD risk factors, controlling for demographic variables (age, sex assigned at birth, race, low-income status, autistic traits). Overall, 73.2% of autistic adults in our sample had an overweight/obesity classification, 45.3% had high cholesterol, 39.4% had high blood pressure, and 10.3% had diabetes. Older age, male sex assigned at birth, and poorer sleep quality were associated with a higher number of CVD risk factors. Using antipsychotic medications was associated with an increased likelihood of having diabetes. Poorer sleep quality was associated with an increased likelihood of having an overweight/obesity classification. Self-reported CVD risk factors are highly prevalent among autistic adults. Both improving sleep quality and closely monitoring CVD risk factors among autistic adults who use antipsychotic medications have the potential to reduce risk for CVD.

Lien vers le texte intégral (Open Access ou abonnement)

3. Brandsma T, Visser K, Volk JJG, Rijn ABV, Dekker LP. A Pilot Study on the Effect of Peer Support on Quality of Life of Adolescents with Autism Spectrum Disorder and Gender Dysphoria. Journal of autism and developmental disorders. 2022.

Gender dysphoria (GD) and Autism Spectrum Disorder (ASD) co-occur relatively often, but there is no evidence-based treatment for this specific group. Therefore, we examined the effects of a group intervention for adolescents with ASD and GD in a pilot study with a pre-post-test design. The adolescents completed questionnaires on quality of life, self-esteem, gender dysphoric feelings, and social responsiveness. Results show that participating in this peer support group seems to increase aspects of quality of life, i.e., increased parent-reported psychological well-being and decreased psychological complaints. Even though more research is needed, these results indicate that peer support is an invaluable part of treatment for adolescents with ASD and GD.

Lien vers le texte intégral (Open Access ou abonnement)

4. Carter Leno V, Begum-Ali J, Goodwin A, Mason L, Pasco G, Pickles A, Garg S, Green J, Charman T, Johnson MH, Jones EJH. Infant excitation/inhibition balance interacts with executive attention to predict autistic traits in childhood. Molecular autism. 2022; 13(1): 46.

BACKGROUND: Autism is proposed to be characterised by an atypical balance of cortical excitation and inhibition (E/I). However, most studies have examined E/I alterations in older autistic individuals, meaning that findings could in part reflect homeostatic compensation. To assess the directionality of effects, it is necessary to examine alterations in E/I balance early in the lifespan before symptom emergence. Recent explanatory frameworks have argued that it is also necessary to consider how early risk features interact with later developing modifier factors to predict autism outcomes. METHOD: We indexed E/I balance in early infancy by extracting the aperiodic exponent of the slope of the electroencephalogram (EEG) power spectrum (‘1/f’). To validate our index of E/I balance, we tested for differences in the aperiodic exponent in 10-month-old infants with (n = 22) and without (n = 27) neurofibromatosis type 1 (NF1), a condition thought to be characterised by alterations to cortical inhibition. We then tested for E/I alterations in a larger heterogeneous longitudinal cohort of infants with and without a family history of neurodevelopmental conditions (n = 150) who had been followed to early childhood. We tested the relevance of alterations in E/I balance and our proposed modifier, executive attention, by assessing whether associations between 10-month aperiodic slope and 36-month neurodevelopmental traits were moderated by 24-month executive attention. Analyses adjusted for age at EEG assessment, sex and number of EEG trials. RESULTS: Infants with NF1 were characterised by a higher aperiodic exponent, indicative of greater inhibition, supporting our infant measure of E/I. Longitudinal analyses showed a significant interaction between aperiodic slope and executive attention, such that higher aperiodic exponents predicted greater autistic traits in childhood, but only in infants who also had weaker executive functioning abilities. LIMITATIONS: The current study relied on parent report of infant executive functioning-type abilities; future work is required to replicate effects with objective measures of cognition. CONCLUSIONS: Results suggest alterations in E/I balance are on the developmental pathway to autism outcomes, and that higher executive functioning abilities may buffer the impact of early cortical atypicalities, consistent with proposals that stronger executive functioning abilities may modify the impact of a wide range of risk factors.

Lien vers le texte intégral (Open Access ou abonnement)

5. Davidovitch M, Gazit S, Patalon T, Leitner Y, Rotem RS. Late diagnosis of autism spectrum disorder-Journey, parents’ concerns, and sex influences. Autism research : official journal of the International Society for Autism Research. 2022.

Despite increasing awareness for diagnosing autism spectrum disorder (ASD) and initiating treatments early in life, many children and adolescents continue to be diagnosed at a relatively older age. Focusing on children who first received an ASD diagnosis at age six or older, this study aimed to describe the symptoms that parents reported when ASD was diagnosed, follow the patients’ clinical trajectory prior to receiving the diagnosis, and describe differences in symptoms and prior diagnoses between males and females cases. We included 258 children (205 males and 53 females) who were first diagnosed with autism at age 6-18 in 2017-2018. We retrieved demographic information, neurologic and developmental symptoms, diagnoses, and medications dispensing history from the children’s electronic medical charts. The data indicated that prior diagnoses of language delays and attention deficit hyperactivity disorder were common among children with a late ASD diagnosis. Two thirds of the children were prescribed one or more medications to treat psychosocial and behavioral conditions before receiving a late ASD diagnosis. Difficulties in social relationships with peers were the leading reported symptoms by parents at the time of ASD diagnosis. Across these different domains, some differences were found between males and females, including a somewhat higher cognitive level in males, who were also more likely to present aggressive behavior.

Lien vers le texte intégral (Open Access ou abonnement)

6. Demchick BB, Flanagan J, Li CY, Cassidy R, Golding J. Early Indicators of Autism in Infants: Development of the IMES Screening Tool. OTJR : occupation, participation and health. 2022: 15394492221134910.

We developed the Infant, Motor, and Engagement Scale (IMES) to address the public health goal of early identification of autism spectrum disorder (ASD). The IMES is a screening tool that assesses quality of infants’ interaction with people and objects during early play. We aimed to examine the IMES’ preliminary psychometric properties and its value in discriminating between infants later diagnosed with ASD and typically developing infants. We used the IMES to score retrospective home videos of 15 male infants, 7 who were later diagnosed with autism. We examined interrater reliability using Cohen’s Kappa, internal consistency with Cronbach’s alpha and content validity through expert review. Preliminary data support validity and reliability of the IMES for early identification for infants at 6 to 9 months. With further research, the IMES has the potential to identify at risk infants at a young age that may have long-term impact on child and family outcomes.

Lien vers le texte intégral (Open Access ou abonnement)

7. Friedman C. The Impact of Emergency Pandemic HCBS Funding on the Continuity and Security of People with Intellectual and Developmental Disabilities. Journal of autism and developmental disorders. 2022: 1-10.

This study’s aim was to examine the impact of pandemic emergency Home- and Community-Based Services (HCBS) payments on the continuity and security of people with intellectual and developmental disabilities (IDD). Using a multilevel logistic regression, we analyzed secondary Personal Outcome Measures interviews from 738 people with IDD (March 2020 through April 2022), and state pandemic emergency HCBS payment data from 16 states. The odds of people with IDD experiencing continuity and security during the pandemic increased by 3% for every 1% states increased their payment rates, and by 398% when states offered retainer payments. Increased reimbursement rates and retainer payments can help providers maintain operations and promote the continuity and security of people with IDD.

Lien vers le texte intégral (Open Access ou abonnement)

8. Genc-Tosun D, Kurt O, Cevher Z, Gregori EV. Teaching Children with Autism Spectrum Disorder to Answer Questions Using an iPad-Based Speech-Generating Device. Journal of autism and developmental disorders. 2022.

This study investigated whether a systematic instruction package was effective in child acquisition of question answering using an iPad-based speech generating device (SGD). The study was conducted with two children with autism using a multiple probe across behaviors design. Results demonstrated that the systematic instruction package consisting of graduated guidance, discrete trial teaching, time delay, and reinforcement resulted in acquisition of answering all questions. Follow-up data were collected one, three, and five weeks after instruction ended. For all participants, skills maintained during follow-up and generalized to novel settings and skills. Social validity data were also collected and indicated that teachers without experience using SGDs found them to be effective and feasible for teaching communication skills.

Lien vers le texte intégral (Open Access ou abonnement)

9. Giulivi C, Wang JY, Hagerman RJ. Artificial neural network applied to fragile X-associated tremor/ataxia syndrome stage diagnosis based on peripheral mitochondrial bioenergetics and brain imaging outcomes. Scientific reports. 2022; 12(1): 21382.

No proven prognosis is available for the neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS). Artificial neural network analyses (ANN) were used to predict FXTAS progression using data from 127 adults (noncarriers and FMR1 premutation carriers with and without FXTAS) with five outcomes from brain MRI imaging and 22 peripheral bioenergetic outcomes from two cell types. Diagnosis accuracy by ANN predictions ranged from 41.7 to 86.3% (depending on the algorithm used), and those misclassified usually presented a higher FXTAS stage. ANN prediction of FXTAS stages was based on a combination of two imaging findings (white matter hyperintensity and whole-brain volumes adjusted for intracranial volume) and four bioenergetic outcomes. Those at Stage 3 vs. 0-2 showed lower mitochondrial mass, higher oxidative stress, and an altered electron transfer consistent with mitochondrial unfolded protein response activation. Those at Stages 4-5 vs. 3 had higher oxidative stress and glycerol-3-phosphate-linked ATP production, suggesting that targeting mGPDH activity may prevent a worse prognosis. This was confirmed by the bioenergetic improvement of inhibiting mGPDH with metformin in affected fibroblasts. ANN supports the prospect of an unbiased molecular definition in diagnosing FXTAS stages while identifying potential targets for personalized medicine.

Lien vers le texte intégral (Open Access ou abonnement)

10. Hao X, An Q, Li J, Min H, Guo Y, Yu M, Qin J. Exploring high-order correlations with deep-broad learning for autism spectrum disorder diagnosis. Frontiers in neuroscience. 2022; 16: 1046268.

Recently, a lot of research has been conducted on diagnosing neurological disorders, such as autism spectrum disorder (ASD). Functional magnetic resonance imaging (fMRI) is the commonly used technique to assist in the diagnosis of ASD. In the past years, some conventional methods have been proposed to extract the low-order functional connectivity network features for ASD diagnosis, which ignore the complexity and global features of the brain network. Most deep learning-based methods generally have a large number of parameters that need to be adjusted during the learning process. To overcome the limitations mentioned above, we propose a novel deep-broad learning method for learning the higher-order brain functional connectivity network features to assist in ASD diagnosis. Specifically, we first construct the high-order functional connectivity network that describes global correlations of the brain regions based on hypergraph, and then we use the deep-broad learning method to extract the high-dimensional feature representations for brain networks sequentially. The evaluation of the proposed method is conducted on Autism Brain Imaging Data Exchange (ABIDE) dataset. The results show that our proposed method can achieve 71.8% accuracy on the multi-center dataset and 70.6% average accuracy on 17 single-center datasets, which are the best results compared with the state-of-the-art methods. Experimental results demonstrate that our method can describe the global features of the brain regions and get rich discriminative information for the classification task.

Lien vers le texte intégral (Open Access ou abonnement)

11. Hirai M, Asada K, Kato T, Ikeda T, Hakuno Y, Ikeda A, Matsushima K, Awaya T, Okazaki S, Kato T, Funabiki Y, Murai T, Heike T, Hagiwara M, Yamagata T, Tomiwa K, Kimura R. Correction to: Comparison of the social responsiveness scale-2 among individuals with Autism Spectrum Disorder and Williams Syndrome in Japan. Journal of autism and developmental disorders. 2022.

Lien vers le texte intégral (Open Access ou abonnement)

12. Hodges AK, Hathaway KL, McMahon MXH, Volkert VM, Sharp WG. Treatment of Feeding Concerns in Children With Autism Spectrum Disorder: A Systematic Review of Behavioral Interventions With Caregiver Training. Behavior modification. 2022: 1454455221137328.

Successful feeding intervention ultimately requires generalization and adoption of treatment into the home. Treatment models, however, differ regarding how and when caregivers are integrated into care delivery process. Some treatments involve a primary model of parent training with caregivers serving as co-therapist at the onset of intervention, while others involve a complimentary model where a therapist delivers the intervention and caregiver training occurs once the child’s behavior is stable. This review systematically evaluates the evidence-base regarding behavioral feeding intervention for children with autism spectrum disorder (ASD), with a specific focus on interventions involving parent training. Results provide further evidence regarding the potential benefits of behavioral intervention to improve feeding concerns in ASD, while also highlighting growing attention to documenting and/or evaluating parent training within the treatment literature. Important questions remain regarding factors guiding the use of a primary or complimentary model of parent training.

Lien vers le texte intégral (Open Access ou abonnement)

13. Huang Y, Arnold SRC, Foley KR, Trollor JN. A Qualitative Study of Adults’ and Support Persons’ Experiences of Support After Autism Diagnosis. Journal of autism and developmental disorders. 2022: 1-14.

Adulthood autism diagnosis has become increasingly common, but little is known about post-diagnosis support experiences and needs. We interviewed 19 autistic adults and 4 support persons on experiences of formal and informal post-diagnosis support. Reflexive thematic analysis was used to identify themes. Participants reported difficulties accessing suitable formal support, especially regarding education and employment. Informal support was helpful but created challenges in the relationships between autistic adults and support persons. For autistic adults, support from autistic peers fostered belonging and self-acceptance. We also identified complex interactions between adults’ post-diagnosis identity development and support experiences as they resolved the dilemma between self-acceptance and a desire to change. Findings have important implications for services working with autistic adults and their families.

Lien vers le texte intégral (Open Access ou abonnement)

14. Hughes HK, Moreno RJ, Ashwood P. Innate immune dysfunction and neuroinflammation in autism spectrum disorder (ASD). Brain, behavior, and immunity. 2022; 108: 245-54.

Autism spectrum disorder (ASD) is a highly heterogeneous neurodevelopmental disorder characterized by communication and social behavior deficits. The presence of restricted and repetitive behaviors often accompanies these deficits, and these characteristics can range from mild to severe. The past several decades have seen a significant rise in the prevalence of ASD. The etiology of ASD remains unknown; however, genetic and environmental risk factors play a role. Multiple hypotheses converge to suggest that neuroinflammation, or at least the interaction between immune and neural systems, may be involved in the etiology of some ASD cases or groups. Repeated evidence of innate immune dysfunction has been seen in ASD, often associated with worsening behaviors. This evidence includes data from circulating myeloid cells and brain resident macrophages/microglia in both human and animal models. This comprehensive review presents recent findings of innate immune dysfunction in ASD, including aberrant innate cellular function, evidence of neuroinflammation, and microglia activation.

Lien vers le texte intégral (Open Access ou abonnement)

15. Jalnapurkar I, Frazier JA, Roth M, Cochran DM, Foley A, Merk T, Venuti L, Ronco L, Raines S, Cadavid D. The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study. Journal of neurodevelopmental disorders. 2022; 14(1): 57.

BACKGROUND: Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability in males and the most common single gene cause of autism. This X-linked disorder is caused by an expansion of a trinucleotide CGG repeat (> 200 base pairs) on the promotor region of the fragile X messenger ribonucleoprotein 1 gene (FMR1). This leads to the deficiency or absence of the encoded protein, fragile X messenger ribonucleoprotein 1 (FMRP). FMRP has a central role in the translation of mRNAs involved in synaptic connections and plasticity. Recent studies have demonstrated the benefit of therapeutics focused on reactivation of the FMR1 locus towards improving key clinical phenotypes via restoration of FMRP and ultimately disease modification. A key step in future studies directed towards this effort is the establishment of proof of concept (POC) for FMRP reactivation in individuals with FXS. For this, it is key to determine the feasibility of repeated collection of tissues or fluids to measure FMR1 mRNA and FMRP. METHODS: Individuals, ages 3 to 22 years of age, with FXS and those who were typically developing participated in this single-site pilot clinical biomarker study. The repeated collection of hair follicles was compared with the collection of blood and buccal swabs for detection of FMR1 mRNA and FMRP and related molecules. RESULTS: There were n = 15 participants, of whom 10 had a diagnosis of FXS (7.0 ± 3.56 years) and 5 were typically developing (8.2 ± 2.77 years). Absolute levels of FMRP and FMR1 mRNA were substantially higher in healthy participants compared to full mutation and mosaic FXS participants and lowest in the FXS boys. Measurement of FMR1 mRNA and FMRP levels by any method did not show any notable variation by collection location at home versus office across the various sample collection methodologies of hair follicle, blood sample, and buccal swab. CONCLUSION: Findings demonstrated that repeated sampling of hair follicles in individuals with FXS, in both, home, and office settings, is feasible, repeatable, and can be used for measurement of FMR1 mRNA and FMRP in longitudinal studies.

Lien vers le texte intégral (Open Access ou abonnement)

16. Li X, Ruan C, Zibrila AI, Musa M, Wu Y, Zhang Z, Liu H, Salimeen M. Children with autism spectrum disorder present glymphatic system dysfunction evidenced by diffusion tensor imaging along the perivascular space. Medicine. 2022; 101(48): e32061.

This study used diffusion tensor imaging (DTI) along the perivascular space (DTI-ALPS) to assess glymphatic system function in autism spectrum disorder (ASD) compared to healthy controls. Patients with ASD may have glymphatic system dysfunction, which is related to age. We retrospectively included 30 children with ASD and 25 healthy controls in this study. 3T magnetic resonance imaging scanner was used to perform DTI magnetic resonance imaging on all participants, and the DTI-ALPS index was calculated from the DTI data. Additionally, we evaluated how the DTI-ALPS index differed between the 2 groups. Moreover, we examined the relationships between the bilateral DTI-ALPS index and the age of the participants. The DTI-ALPS index considerably differed between groups. In the left index (1.02 ± 0.12 vs. 1.27 ± 0.25, P < .001) and in the right index (1.03 ± 0.12 vs. 1.32 ± 0.20, P < .001), the DTI-ALPS in ASD patients was significantly lower than that in healthy controls. Furthermore, the DTI-ALPS index was strongly and positively associated with age. In patients with ASD, there is a glymphatic system dysfunction. This is intimately correlated to age. Our findings suggest the importance of the DTI-ALPS approach in assessing the function of the glymphatic system in ASD.

Lien vers le texte intégral (Open Access ou abonnement)

17. Liu X, Yang Q, Shi C, Hao H, Xiao X, Li S. [Analysis of clinical characteristics and genetic variant in a child with Nicolaides-Baraitser syndrome due to maternal mosaicism]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2022; 39(12): 1366-9.

OBJECTIVE: To carry out genetic testing for a child featuring global developmental delay, abnormal liver function, congenital heart disease, and brain malformation. METHODS: Peripheral blood samples of the child and his parents were collected for the extraction of genomic DNA and trio-whole exome sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: Genetic testing revealed that the child has harbored a heterozygous c.2002G>T (p.Glu668Ter) variant of the SMARCA2 gene, which was predicted to be likely pathogenic by bioinformatic analysis. His mother was found to be a low-percentage mosaic for the same variant, with a ratio of 0.054 (246/4549). CONCLUSION: The child was diagnosed with Nicolaides-Baraitser syndrome resulting from maternal mosaicism for the SMARCA2 gene variant.

Lien vers le texte intégral (Open Access ou abonnement)

18. Milner V, Colvert E, Mandy W, Happé F. A comparison of self-report and discrepancy measures of camouflaging: Exploring sex differences in diagnosed autistic versus high autistic trait young adults. Autism research : official journal of the International Society for Autism Research. 2022.

Camouflaging describes masking or compensating for autistic traits and/or related difficulties. Some evidence suggests autistic females camouflage more than autistic males, potentially contributing to delayed or missed diagnosis. Studies predominantly adopt self-report measures of camouflaging, potentially reflecting a person’s intent to camouflage without accurately measuring effectiveness (i.e., success in fulfilling the intended effect of minimizing the appearance of autistic traits) of camouflaging. Discrepancy scores between underlying cognitive difficulties (e.g., theory of mind) and observed autistic traits (henceforth camo(ToM) ), or between self-reported autistic traits and observed autistic traits (henceforth camo(SRS) ), may provide a more accurate measure of camouflaging effectiveness. Three measures of camouflaging administered to autistic males (n = 46) and females (n = 40), and adults with equally high levels of autistic traits but no diagnosis (n = 45 males, n = 43 females) recruited from a large population-based sample were compared. Self-report measures of camouflaging were significantly correlated with camo(SRS) scores only. Both discrepancy scores were correlated with each other. Adults with high autistic traits, but no diagnosis, had higher discrepancy camouflaging scores than diagnosed adults, but self-reported scores were similar. Diagnosed females scored higher than diagnosed males across all camouflaging measures, but no sex difference occurred in the high trait group. This might indicate that autistic females have higher intentions and greater effectiveness when camouflaging, compared with autistic males. For camo(SRS) only, high trait males scored significantly higher than diagnosed males; no group difference occurred for females. These results suggest that, despite all participants intending to camouflage to some extent, effective camouflaging as measured by discrepancy scores is higher in undiagnosed high autistic trait individuals. One interpretation is that effective camouflaging reduces the likelihood of autism diagnosis in males and females with high autistic traits.

Lien vers le texte intégral (Open Access ou abonnement)

19. Pillai RLI, Covington M, Visintainer PF, Branch HJ. Association of autism with lead poisoning in an environmental health clinic. Pediatric research. 2022.

Lien vers le texte intégral (Open Access ou abonnement)

20. Snijder MIJ, Dietz C, van Andel M, Ruiter ELM, Buitelaar JK, Oosterling IJ. Social COmmunication Program supported by E-health (SCOPE) for infants and toddlers at elevated likelihood of autism spectrum disorder: study design of a cluster randomized controlled trial. BMC psychiatry. 2022; 22(1): 772.

BACKGROUND: Although the importance of early detection and early intervention of autism spectrum disorders (ASD) is widely recognized, multiple barriers exist in accessing early intervention services. As an alternative to these barriers, the SCOPE project presents a new, easy accessible and blended intervention called BEAR (Blended E-health for children at eArly Risk). This paper describes this BEAR intervention and study design of an ongoing two arm cluster randomized controlled trial (RCT). METHODS: BEAR (Blended E-health for children at eArly Risk) is a blended e-health intervention, based on evidence-based naturalistic developmental behavioral interventions (NDBI’s) and can be offered to parents and infants/toddlers at high likelihood for ASD. During the ongoing RCT, N = 88 high risk infants and toddlers will be cluster randomized over the BEAR intervention and care-as-usual (CAU) conditions. The finalized version of the intervention protocol and study design are presented in this paper. The primary outcome measure is joint engagement measured by the Joint Engagement Rating Inventory (JERI) during videotaped parent-child interaction. Secondary outcome measures include severity of ASD symptoms, global level of adaptive functioning, parental well-being, parental skills and satisfaction with healthcare. Also, costs will be estimated from society’s perspective. Assessments take place at the start of the study (T1), after eight weeks (T2) and after six months (T3) and include behavioral home observations and parental questionnaires. DISCUSSION: The SCOPE project aims to contribute to improved early identification and timely start of suitable interventions for infants and toddlers at elevated likelihood for ASD. This ongoing RCT will offer insight in the feasibility, short-term and six months effects of the innovative BEAR intervention. It is estimated that inclusion for the trial (N = 88) is completed in spring 2023. TRIAL REGISTRATION: Dutch Trial Register, NTR7695. Registered at December 17(th), 2018, www.trialregister.nl .

Lien vers le texte intégral (Open Access ou abonnement)

21. Spennato M, Roggero OM, Varriale S, Asaro F, Cortesi A, Kašpar J, Tongiorgi E, Pezzella C, Gardossi L. Neuroprotective Properties of Cardoon Leaves Extracts against Neurodevelopmental Deficits in an In Vitro Model of Rett Syndrome Depend on the Extraction Method and Harvest Time. Molecules (Basel, Switzerland). 2022; 27(24).

This study investigates the bioactive properties of different extracts of cardoon leaves in rescuing neuronal development arrest in an in vitro model of Rett syndrome (RTT). Samples were obtained from plants harvested at different maturity stages and extracted with two different methodologies, namely Naviglio(®) and supercritical carbon dioxide (scCO(2)). While scCO(2) extracts more hydrophobic fractions, the Naviglio(®) method extracts phenolic compounds and less hydrophobic components. Only the scCO(2) cardoon leaves extract obtained from plants harvested in spring induced a significant rescue of neuronal atrophy in RTT neurons, while the scCO(2) extract from the autumn harvest stimulated dendrite outgrowth in Wild-Type (WT) neurons. The scCO(2) extracts were the richest in squalene, 3ß-taraxerol and lupeol, with concentrations in autumn harvest doubling those in spring harvest. The Naviglio(®) extract was rich in cynaropicrin and exerted a toxic effect at 20 µM on both WT and RTT neurons. When cynaropicrin, squalene, lupeol and 3ß-taraxerol were tested individually, no positive effect was observed, whereas a significant neurotoxicity of cynaropicrin and lupeol was evident. In conclusion, cardoon leaves extracts with high content of hydrophobic bioactive molecules and low cynaropicrin and lupeol concentrations have pharmacological potential to stimulate neuronal development in RTT and WT neurons in vitro.

Lien vers le texte intégral (Open Access ou abonnement)

22. Suzuki T, Ito Y, Ito T, Kidokoro H, Noritake K, Tsujimura K, Saitoh S, Yamamoto H, Ochi N, Ishihara N, Yasui I, Sugiura H, Nakata T, Natsume J. Pathological gait in Rett syndrome: Quantitative evaluation using three-dimensional gait analysis. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 2022; 42: 15-21.

OBJECTIVES: Ataxic-rigid gait is a characteristic gait pathology in patients with Rett syndrome (RTT). In the present study, we aimed to quantitatively evaluate gait pathology in patients with RTT using three-dimensional gait analysis (3DGA). METHODS: We performed 3DGA in 11 patients with RTT ranging from 5 to 18 years (median age, 9 years) and in 33 age-matched healthy female controls. We compared the results of 3DGA, including spatiotemporal gait parameters and comprehensive indices of gait kinematics, such as the Gait Deviation Index (GDI) and Gait Profile Score (GPS), between the two groups. The GPS consists of nine sub-indices called Gait Variable Scores (GVSs). Decline in GDI or elevation of GPS and GVS indicated greater abnormal gait pathology. RESULTS: The patients demonstrated significantly slower walking speed, lower step length/length of the lower extremities, lower cadence, wider step width, and higher coefficient of variation of step length than the controls. Moreover, the patients had a lower GDI and higher GPS than the controls. The patients also exhibited higher GVSs for eight out of nine gait kinematics, particularly the sagittal plane in the pelvis, hip, knee, and ankle joint; coronal plane in the pelvis and hip joint; and horizontal plane in the pelvis than the controls. CONCLUSIONS: Quantitative evaluation of gait pathology in patients with RTT is possible using 3DGA. We found that in addition to ataxic-rigid gait, abnormalities in the coronal plane of the pelvis and hip joint and the horizontal plane of the pelvis were prominent.

Lien vers le texte intégral (Open Access ou abonnement)

23. Taylor SC, Gehringer BN, Dow HC, Langer A, Rawot E, Smernoff Z, Steeman S, Almasy L, Rader DJ, Bučan M, Brodkin ES. Contrasting Views of Autism Spectrum Traits in Adults, Especially in Self-Reports vs. Informant-Reports for Women High in Autism Spectrum Traits. Journal of autism and developmental disorders. 2022: 1-13.

There is uncertainty among researchers and clinicians about how to best measure autism spectrum dimensional traits in adults. In a sample of adults with high levels of autism spectrum traits and without intellectual disability (probands, n = 103) and their family members (n = 96), we sought to compare self vs. informant reports of autism spectrum-related traits and possible effects of sex on discrepancies. Using correlational analysis, we found poor agreement between self- and informant-report measures for probands, yet moderate agreement for family members. We found reporting discrepancy was greatest for female probands, often self-reporting more autism-related behaviors. Our findings suggest that autism spectrum traits are often underrecognized by informants, making self-report data important to collect in clinical and research settings.

Lien vers le texte intégral (Open Access ou abonnement)

24. Tsiplova K, Ungar WJ, Szatmari P, Cost K, Pullenayegum E, Duku E, Volden J, Smith IM, Waddell C, Zwaigenbaum L, Bennett TA, Elsabbagh M, Georgiades S, Zaidman-Zait A. Measuring the association between behavioural services and outcomes in young children with autism spectrum disorder. Research in developmental disabilities. 2023; 132: 104392.

BACKGROUND: Children with autism spectrum disorder (ASD) receive a wide range of services. AIMS: To examine the association between behavioural services received by children with ASD between ages 2 and 5 years and outcomes during primary school years. METHODS: A total of 414 preschool-aged children diagnosed with ASD were enrolled at five Canadian sites and were assessed within four months of diagnosis (T1), six months later (T2), 12 months later (T3), at school entry (T4), and then annually (T5-T8) to 11 years of age. The association between the receipt of behavioural services during T1 to T3 and T8 outcomes related to adaptive behaviour and behavioural problems was modelled using linear regressions adjusted for immigrant status, family income, child’s age at diagnosis, site, sex assigned at birth, and baseline (T1) outcome. RESULTS: Children who received behavioural services during at least one time period from T1 to T3 did not have significantly different outcomes at T8 than children who did not receive any behavioural services. IMPLICATIONS: Pre-school use of behavioural services was not found to affect outcomes during later childhood. Numerous challenges accompany studies of the association between pre-school service use and later outcomes in a heterogeneous ASD sample. Recommendations for study design are provided.

Lien vers le texte intégral (Open Access ou abonnement)

25. Vithayathil J, Freeman C, Jacobwitz M, Schwartz ES, Agarwal S. Prolonged neurologic deficits with brain MRI changes following ECT in an adolescent with a CACNA1a-related disorder; a case report. BMC neurology. 2022; 22(1): 466.

BACKGROUND: Electroconvulsive therapy is used to treat depression and schizophrenia with infrequent use in pediatric patients. We report a case of an adolescent with autism spectrum disorder and acute catatonia that presented with status epilepticus (SE) and prolonged neurologic deficits with unilateral left cerebral edema on imaging following unilateral electroconvulsive therapy (ECT) on the right side, subsequently found to have a CACNA1a pathogenic variant. This case highlights a potential adverse effect of ECT in patients with CACNA1a related disorders. CASE: The patient received unilateral ECT to the right side and subsequently had an episode of SE with right-sided hemiplegia for 72 h prior to regaining some function with persistent mild right-hand weakness that persisted for at least 1-2 weeks. A brain MRI 2 days after ECT was unremarkable, but a repeat MRI on day four of admission showed left hemisphere cortical diffusion restriction, increased perfusion and T2 prolongation suggestive of cortical edema. They had whole exome genetic testing sent after discharge that showed a known pathogenic CACNA1a variant (p.I1709T). CACNA1a encodes the P/Q type calcium channels and deleterious variants in this gene result in a channelopathy associated with a spectrum of neurodevelopmental disorders that include autism spectrum disorder, hemiplegic migraine with unilateral cerebral edema, epileptic encephalopathies, or episodic ataxia syndromes. CONCLUSION: A literature review of ECT and neurologic deficits showed that most neurologic deficits resolve within 30 min of ECT. Case reports of prolonged deficits are rare and there are no prior reports of acute MRI changes related to ECT. Thus, the acute deterioration and MRI findings in this patient are likely related to the underlying CACNA1a channelopathy disorder with ECT as a precipitating event. This case report suggests care should be taken when using ECT in patients with pathogenic variants in CACNA1a. Furthermore, it reinforces the utility and importance of expanded genetic testing in patients with neurodevelopmental disorders as findings can provide valuable information that can guide treatment decisions.

Lien vers le texte intégral (Open Access ou abonnement)

26. Wang J, Liu Y, Huang HY, Wu JT, Wang WJ. [Influence of acupuncture on the clinical manifestations and gastrointestinal symptoms of children with autism spectrum disorder]. Zhongguo zhen jiu = Chinese acupuncture & moxibustion. 2022; 42(12): 1373-6.

OBJECTIVE: To observe the effect of acupuncture therapy based on « gut-brain axis » on clinical manifestations and gastrointestinal symptoms of children with autism spectrum disorder (ASD). METHODS: A total of 66 children with ASD were randomly divided into an observation group and a control group, 33 cases in each group. The control group was treated by routine rehabilitation training. On the basis of the control group, the observation group was treated with acupuncture based on « gut-brain axis », and the acupoints were Touwei (ST 8), Shenting (GV 24), Sishencong (EX-HN 1), Tianshu (ST 25), Zhongwan (CV 12), Zusanli (ST 36), etc. Both treatments were given once every other day, 3 times a week, 4 weeks as a course of treatment, consecutively for 3 courses. The scores of autism behavior checklist (ABC), TCM symptoms of gastrointestinal disease and childhood autism rating scale (CARS) were compared between the two groups before and after treatment, and the clinical efficacy was evaluated. RESULTS: After treatment, the scores of ABC, CARS and TCM symptoms of gastrointestinal disease in the two groups were lower than before treatment (P<0.05), and those in the observation group were lower than the control group (P<0.05). The total effective rate of the observation group was 90.9% (30/33), which was higher than 81.8% (27/33) in the control group (P<0.05). CONCLUSION: On the basis of routine rehabilitation training, acupuncture therapy based on "gut-brain axis" is effective in treating ASD, which can relieve the clinical manifestations and gastrointestinal symptoms.

Lien vers le texte intégral (Open Access ou abonnement)