1. Al-Huseini S, Al-Barhoumi A, Al-Balushi M, Al-Hosni A, Al-Mahrouqi T, Al-Mahrizi B, Jaju S, Mirza H. Effectiveness and Adverse Effects of Risperidone in Children with Autism Spectrum Disorder in a Naturalistic Clinical Setting at a University Hospital in Oman. Autism research and treatment. 2022; 2022: 2313851.

OBJECTIVE: This study aimed at examining the effectiveness of treating children with autism spectrum disorder (ASD) who present with irritability, aggression, and disruptive behavior at the Sultan Qaboos University Hospital (SQUH) in Muscat, Oman, with risperidone, and to note any sex-based differences among this cohort. METHOD: This was a retrospective study conducted at the Department of Behavioral Medicine at SQUH over two years from January 2017 to December 2018. This study included all children aged 3 to 18 years attending the Child and Adolescent Mental Health Service (CAMHS) outpatient clinic with a diagnosis of ASD, based on the DSM-5 criteria, and comorbid disruptive behavior, who had been prescribed risperidone. RESULT: This study identified 95 ASD patients (72 males). Male patients’ BMI score after 12 months of risperidone treatment showed an increase by 0.62 (1.57 SD; P=0.001); however, there was no significant change among female patients. Somnolence was noted in 69.6% of female patients as compared to 34.7% of males (P=0.003). Among those with a family history of ASD, 5 out of 17 patients had treatment success (29.4%), whereas 70 out of 78 patients (90.0%) who did not have a similar history had successful treatment. CONCLUSION: In conclusion, low-dose risperidone monotherapy is effective and well tolerated among some children with ASD who present with disruptive behavior in a naturalistic clinical setting. However, we found that some of the side effects, such as weight gain and somnolence, were concerning.

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2. Aoki A, Niimura M, Kato T, Takehara K, Iida J, Okada T, Kurokami T, Nishimaki K, Ogura K, Okuno M, Koeda T, Igarashi T. Trajectories of Healthcare Utilization Among Children and Adolescents With Autism Spectrum Disorder and/or Attention-Deficit/Hyperactivity Disorder in Japan. Frontiers in psychiatry. 2021; 12: 812347.

BACKGROUND: Early intervention and prevention of psychiatric comorbidities of children with autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are urgent issues. However, the differences in the diagnoses of ASD and ADHD and psychiatric comorbidities associated with age, long-term healthcare utilization trajectories, and its associated diagnostic features have not been fully elucidated in Japan. METHOD: We conducted a retrospective observational study using the medical records. Member hospitals of three major consortiums of hospitals providing child and adolescent psychiatric services in Japan were recruited for the study. Children who accessed the psychiatry services of the participating hospitals in April 2015 were followed up for 5 years, and data on their clinical diagnoses, consultation numbers, and hospitalizations were collected. Non-hierarchical clustering was performed using two 10-timepoint longitudinal variables: consultation numbers and hospitalization. Among the major clusters, the differences in the prevalence of ASD, ADHD, comorbid intellectual disability, neurotic disorders, and other psychiatric disorders were assessed. RESULTS: A total of 44 facilities participated in the study (59.5%), and 1,003 participants were enrolled. Among them, 591 diagnosed with ASD and/or ADHD (58.9%) and 589 without missing data were assessed. The mean age was 10.1 years, and 363 (70.9%) were boys. Compared with the pre-schoolers, the school-aged children and adolescents had fewer ASD, more ADHD, and fewer comorbid intellectual disability diagnoses, as well as more diagnoses of other psychiatric disorders. A total of 309 participants (54.7%) continued consultation for 2 years, and 207 (35.1%) continued for 5 years. Clustering analysis identified three, two, and three major clusters among pre-schoolers, school-aged children, and adolescents, respectively. The largest cluster was characterized by early termination of the consultation and accounted for 55.4, 70.6, and 73.4% of pre-schoolers, school-aged children, and adolescents, respectively. Among the school-aged children, the diagnosis of ADHD was associated with a cluster that required longer periods of consultations. Among the adolescents, comorbid psychiatric disorders other than intellectual disability and neurotic disorders were associated with clusters that required hospitalization. CONCLUSION: Continuous healthcare needs were common and psychiatric comorbidities were associated with complex trajectory among adolescents. The promotion of early intervention and prevention of comorbidities are important.

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3. Arnhart C, Neale M, Collins C, Chesher T, Coffey S, Rogers TC, Ottwell R, Hartwell M. The Use of Person-Centered Language in Scientific Research Articles Focused on Autism. Journal of developmental and behavioral pediatrics : JDBP. 2022.

OBJECTIVE: Individuals with developmental conditions, such as autism, experience stigma, which is reflected in derogatory language and labels. To limit stigma associated with disabilities, government agencies and medical organizations have adopted the use of person-centered language (PCL). This study investigated adherence to PCL guidelines among peer-reviewed research publications focused on autism. In addition, we investigated the co-occurrence of stigmatizing language in articles using person-first language (PFL) and identity-first language (IFL) styles. METHODS: We performed a systematic search of PubMed for autism-focused articles from January 2019 to May 2020. Articles from journals with more than 20 search returns were included, and a random sample of 700 publications were screened and examined for inclusion of prespecified, non-PCL terminology. RESULTS: Of the 315 publications, 156 (49.5%) were PCL compliant. Articles frequently used PCL and non-PCL terminology concomitantly, and 10% of publications included obsolete nomenclature. A logistic regression model showed the odds were more likely that publications using IFL were more likely to include other stigmatizing terminology than publications using PFL (odds ratio = 2.03, 95% confidence interval: 1.15-3.58). CONCLUSION: Within medical research, the language to describe individuals and populations needs to be used with intentionality and acknowledges that individuals are more than the diagnosis under study. This may reduce the structural stigma that may be implied otherwise. Our study showed that when PFL is used when addressing individuals with autism, other more stigmatizing language is often avoided and is in line with medical education and clinical practice.

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4. Beversdorf DQ, Sohl K, Levitskiy D, Tennant P, Goin-Kochel RP, Shaffer RC, Confair A, Middleton FA, Hicks SD. Saliva RNA Biomarkers of Gastrointestinal Dysfunction in Children With Autism and Neurodevelopmental Disorders: Potential Implications for Precision Medicine. Frontiers in psychiatry. 2021; 12: 824933.

Gastrointestinal (GI) disorders are common in children with neurodevelopmental disorders such as autism spectrum disorder (ASD). A limited understanding of the biologic factors that predispose this population to GI disorders has prevented development of individualized therapies to address this important medical issue. The goal of the current study was to determine if elements of the salivary micro-transcriptome could provide insight into the biologic perturbations unique to children with ASD-related GI disturbance. This cohort study included 898 children (ages 18-73 months) with ASD, non-ASD developmental delay (DD), or typical development (TD). The saliva micro-transcriptome of each child was assessed with RNA-seq. Outputs were aligned to microbial and human databases. A Kruskal Wallis analysis of variance (ANOVA) was used to compare levels of 1821 micro-transcriptome features across neurodevelopmental status (ASD, DD, or TD) and GI presence or absence. An ANOVA was also used to compare micro-transcriptome levels among GI sub-groups (constipation, reflux, food intolerance, other GI condition, no GI condition), and to identify RNAs that differed among children taking three common GI medications (probiotics, reflux medication, or laxatives). Relationships between features identified in ANOVA testing were examined for associations with scores on the Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2) and the Vineland Adaptive Behavior Scales. GI disturbance rates were higher among children with ASD than peers with TD but were similar to those with DD. Five piwi-interacting RNAs and three microbial RNAs displayed an interaction between developmental status and GI disturbance. Fifty-seven salivary RNAs differed between GI sub-groups-with microRNA differences between food intolerance and reflux groups being most common. Twelve microRNAs displayed an effect of GI disturbance and showed association with GI medication uses and measures of behavior. These 12 microRNAs displayed enrichment for 13 physiologic pathways, including metabolism/digestion long-term depression, and neurobiology of addiction. This study identifies salivary micro-transcriptome features with differential expression among children with ASD-related GI disturbance. A subset of the RNAs displays relationships with treatment modality and are associated with autistic behaviors. The pathobiologic targets of the micro-transcriptome markers may serve as targets for individualized therapeutic interventions aimed at easing pain and behavioral difficulties seen in ASD-related GI disturbance.

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5. Chase B. The Unexpected Comfort of Feeling It All: A Support Group for Mothers of Autistic Adolescents Using the Lens of Ambiguous Loss. Clinical social work journal. 2022: 1-9.

Many parents experience grief and loss in response to their child receiving an autism diagnosis in early childhood. However, there is a dearth of research that considers if grief and loss are experienced by parents throughout their child’s adolescence and young adulthood. Further, there is a small but growing body of evidence suggesting that parents of autistic children may be living with ambiguous loss in particular, that is, a loss for which there is no closure or resolution. This case study introduces a peer group intervention utilizing an ambiguous loss framework that school social workers and other clinicians can adopt to support mothers of autistic adolescents who are struggling with ambiguous loss. Through the group process, the mothers developed deeper understanding, self-compassion, and effective coping strategies, resulting in a more resilient approach to the transition process and an enhanced capacity to plan for a meaningful adult life with their autistic child.

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6. Chávez-García C, Hénin J, Karttunen M. Multiscale Computational Study of the Conformation of the Full-Length Intrinsically Disordered Protein MeCP2. Journal of chemical information and modeling. 2022; 62(4): 958-70.

The malfunction of the methyl-CpG binding protein 2 (MeCP2) is associated with the Rett syndrome, one of the most common causes of cognitive impairment in females. MeCP2 is an intrinsically disordered protein (IDP), making its experimental characterization a challenge. There is currently no structure available for the full-length MeCP2 in any of the databases, and only the structure of its MBD domain has been solved. We used this structure to build a full-length model of MeCP2 by completing the rest of the protein via ab initio modeling. Using a combination of all-atom and coarse-grained simulations, we characterized its structure and dynamics as well as the conformational space sampled by the ID and transcriptional repression domain (TRD) domains in the absence of the rest of the protein. The present work is the first computational study of the full-length protein. Two main conformations were sampled in the coarse-grained simulations: a globular structure similar to the one observed in the all-atom force field and a two-globule conformation. Our all-atom model is in good agreement with the available experimental data, predicting amino acid W104 to be buried, amino acids R111 and R133 to be solvent-accessible, and having a 4.1% α-helix content, compared to the 4% found experimentally. Finally, we compared the model predicted by AlphaFold to our Modeller model. The model was not stable in water and underwent further folding. Together, these simulations provide a detailed (if perhaps incomplete) conformational ensemble of the full-length MeCP2, which is compatible with experimental data and can be the basis of further studies, e.g., on mutants of the protein or its interactions with its biological partners.

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7. Curl A, Coderre EL. The time-locked neurodynamics of semantic processing in autism spectrum disorder: an EEG study. Cognitive neurodynamics. 2022; 16(1): 43-72.

Language processing is often an area of difficulty in Autism Spectrum Disorder (ASD). Semantic processing-the ability to add meaning to a stimulus-is thought to be especially affected in ASD. However, the neurological origin of these deficits, both structurally and temporally, have yet to be discovered. To further previous behavioral findings on language differences in ASD, the present study used an implicit semantic priming paradigm and electroencephalography (EEG) to compare the level of theta coherence throughout semantic processing, between typically developing (TD) and ASD participants. Theta coherence is an indication of synchronous EEG oscillations and was of particular interest due to its previous links with semantic processing. Theta coherence was analyzed in response to semantically related or unrelated pairs of words and pictures across bilateral short, medium, and long electrode connections. We found significant results across a variety of conditions, but most notably, we observed reduced coherence for language stimuli in the ASD group at a left fronto-parietal connection from 100 to 300 ms. This replicates previous findings of underconnectivity in left fronto-parietal language networks in ASD. Critically, the early time window of this underconnectivity, from 100 to 300 ms, suggests that impaired semantic processing of language in ASD may arise during pre-semantic processing, during the initial communication between lower-level linguistic processing and higher-level semantic processing. Our results suggest that language processing functions are unique in ASD compared to TD, and that subjects with ASD might rely on a temporally different language processing loop altogether.

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8. Gao Y, Duque-Wilckens N, Aljazi MB, Moeser AJ, Mias GI, Robison AJ, Zhang Y, He J. Impaired KDM2B-mediated PRC1 recruitment to chromatin causes defective neural stem cell self-renewal and ASD/ID-like behaviors. iScience. 2022; 25(2): 103742.

Recent clinical studies report that chromosomal 12q24.31 microdeletions are associated with autism spectrum disorder (ASD) and intellectual disability (ID). However, the causality and underlying mechanisms linking 12q24.31 microdeletions to ASD/ID remain undetermined. Here we show Kdm2b, one gene located in chromosomal 12q24.31, plays a critical role in maintaining neural stem cells (NSCs) in the mouse brain. Loss of the CxxC-ZF domain of KDM2B impairs its function in recruiting Polycomb repressive complex 1 (PRC1) to chromatin, resulting in de-repression of genes involved in cell apoptosis, cell-cycle arrest, NSC senescence, and loss of NSC populations in the brain. Of importance, the Kdm2b mutation is sufficient to induce ASD/ID-like behavioral and memory deficits. Thus, our study reveals a critical role of KDM2B in normal brain development, a causality between the Kdm2b mutation and ASD/ID-like phenotypes in mice, and potential molecular mechanisms linking the function of KDM2B-PRC1 in transcriptional regulation to the 12q24.31 microdeletion-associated ASD/ID.

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9. Giesen CG, Husken L, Schneider D. Retrieval effects of observationally acquired stimulus-response bindings in participants with high and low autistic traits. Journal of experimental psychology Human perception and performance. 2022; 48(3): 191-201.

The present study sought to use a paradigm that allows the study of mental representations of observed actions. We investigated whether retrieval of observationally acquired stimulus-response bindings are impaired in participants with high (compared with low) autistic traits. In an extreme group comparison, participants with high versus low autistic traits worked through an observational SR binding and a standard SR binding task (to control for general deficits in cognitive performance). As expected, groups did not differ with regard to retrieval of transient bindings between stimuli and self-performed responses (standard SR binding & retrieval effects). Against our expectations, the same was true for the retrieval of observationally acquired SR bindings, which was of comparable magnitude in both high and low autistic trait groups. Bayes Factor analysis indicates that our evidence for this null finding has to be regarded as weak evidence. Our findings provide tentative evidence against the view that imitative effects are reduced (hypo-imitation) or increased (hyper-imitation) when autistic trait expression is high. (PsycInfo Database Record (c) 2022 APA, all rights reserved).

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10. Hosseini MP, Beary M, Hadsell A, Messersmith R, Soltanian-Zadeh H. Deep Learning for Autism Diagnosis and Facial Analysis in Children. Frontiers in computational neuroscience. 2021; 15: 789998.

In this paper, we introduce a deep learning model to classify children as either healthy or potentially having autism with 94.6% accuracy using Deep Learning. Patients with autism struggle with social skills, repetitive behaviors, and communication, both verbal and non-verbal. Although the disease is considered to be genetic, the highest rates of accurate diagnosis occur when the child is tested on behavioral characteristics and facial features. Patients have a common pattern of distinct facial deformities, allowing researchers to analyze only an image of the child to determine if the child has the disease. While there are other techniques and models used for facial analysis and autism classification on their own, our proposal bridges these two ideas allowing classification in a cheaper, more efficient method. Our deep learning model uses MobileNet and two dense layers to perform feature extraction and image classification. The model is trained and tested using 3,014 images, evenly split between children with autism and children without it; 90% of the data is used for training and 10% is used for testing. Based on our accuracy, we propose that the diagnosis of autism can be done effectively using only a picture. Additionally, there may be other diseases that are similarly diagnosable.

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11. Johnson D, Santos E, Kim K, Ponzini MD, McLennan YA, Schneider A, Tassone F, Hagerman RJ. Increased Pain Symptomatology Among Females vs. Males With Fragile X-Associated Tremor/Ataxia Syndrome. Frontiers in psychiatry. 2021; 12: 762915.

Individuals with the fragile X premutation report symptoms of chronic pain from multiple systems, have increased incidence of comorbid conditions where pain is a prominent feature, and pathophysiology that supports disrupted pain regulation, inflammation, and energy imbalance. Less is known about how pain manifests for the subpopulation of carriers that develop the motor and cognitive changes of fragile X-associated tremor and ataxia syndrome (FXTAS), and how pain may differ between men and women. We gathered data collected from 104 males and females with FXTAS related to chronic pain, comorbid conditions related to pain, and medications used for pain control to further explore the types of pain experienced and to better characterize how individuals with the fragile X premutation experience pain sensation across genders. We found that women experience significantly more pain symptoms than men, particularly allodynia (20 vs. 2.0%, p = 0.008), peripheral neuropathy pain (43.9 vs. 25.4%, p = 0.0488), migraine (43.9 vs. 14.5%, p = 0.0008), fibromyalgia (26.8 vs. 0%, p = 0.0071) and back pain (48.5 vs. 23.4%, p = 0.008). We found onset of peripheral neuropathy predicts the onset of ataxia (β = 0.63 ± 0.25, p = 0.019) and tremor (β = 0.56 ± 0.17, p = 0.004) across gender. Women also report significantly more anxiety (82.9 vs. 39.7%, p < 0.001), which has implications for ideal pain treatment. These pain symptoms need to be recognized in the medical history and treated appropriately, with consideration for overlapping comorbidities.

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12. Johnston JD, Schatz J, Bills SE. Changes in the developmental status of preschoolers with sickle cell disease. Pediatric blood & cancer. 2022; 69(4): e29590.

Developmental monitoring and screening are recommended strategies for identifying children with sickle cell disease at high risk for cerebrovascular complications. Studies examining developmental screenings have provided little data on change over time. We examined screenings longitudinally in 43 children screened as two-year-olds and four-year-olds using the Ages and Stages Questionnaire, 2nd edition. Only two-thirds of children had stable screening outcomes. A new onset of cerebrovascular complications predicted the emergence of developmental delay (P = 0.017). Multivariate analysis suggested a benefit from formal developmental interventions. Regular developmental screening during the preschool period is important to identify systematic changes in developmental status.

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13. Longo A, Hand BN. Brief Report: The Impact of Social and News Media Coverage on the Dissemination of Autism Research. Journal of autism and developmental disorders. 2022: 1-5.

We examined how sharing autism research articles via social and news media was associated with citations and downloads. We included articles published in 2019 from three autism-focused journals. Every 10 Twitter shares yielded a 4.4% increase in article downloads and 5.2% increase in citations. Articles with at least one Facebook post had 23.3% more downloads than those without. Articles with at least one news story had 56.9% more downloads and 39.3% more citations than those without. Descriptive analysis indicated the most shared, downloaded, and cited articles focused largely on treatments or interventions. Autism researchers should continue sharing articles via Twitter and news media because it increases the reach of their work and may better engage research and autism community members.

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14. Lynn A, Luna B, O’Hearn K. Visual working memory performance is intact across development in autism spectrum disorder. Autism research : official journal of the International Society for Autism Research. 2022.

Autism spectrum disorder (ASD) is associated with atypical visual processing and deficits in working memory (WM). Visual WM performance typically improves between childhood and adulthood, but such improvement may be atypical in ASD. To better understand how visual WM develops, we used a well-established change detection task across multiple visual features. We examined visual WM for color, shape, and pattern in children, adolescents, and adults with and without ASD. VWM capacity and performance for all visual features improved across age similarly for both the TD and ASD groups. While performance was better on set size 4 trials than set size 8 trials for color, shape, and no change trials, such an effect was not evident for pattern change trials. Overall, the present findings suggest that VWM for different visual features may be intact across development in ASD. The ability to hold multiple objects in mind (WM) improves across typical development, but it remains unclear whether such improvement occurs in ASD. We found that developmental improvements in WM for different types of object details (e.g., color, shape, and pattern) is generally similar for both ASD and typical development.

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15. Martini MI, Merkelbach I, Begeer S. Gestational Age in Autistic Children and Adolescents: Prevalence and Effects on Autism Phenotype. Journal of autism and developmental disorders. 2022.

Pre- and post-term children show increased autism risk. Little is known about gestational age (GA) prevalence among autistic children, and their respective autism phenotype. We compared prevalence of pre-, full- and post-term birth between a population-derived sample of N = 606 (137 females, 22.61%) autistic children and adolescents (mean age = 14.01, SD = 3.63, range 3-24) from the Netherlands Autism Register, and matched controls from the Dutch birth register. Autism phenotype and comorbid symptoms were assessed with the AQ-short and SDQ questionnaires. Using logistic regression, we found higher prevalence of pre- and post-term birth among autistic individuals but no phenotypical differences across GA groups. Autism risk was particularly elevated for post-term children, highlighting the need for closer investigation of autism on the whole GA range.

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16. Okwara FNO, le Roux SM, Donald KA. Health Service Utilization by Young Children with Autism Spectrum Disorder Versus Global Developmental Delay at a Tertiary Center in a Resource-Limited Setting. Journal of developmental and behavioral pediatrics : JDBP. 2022.

OBJECTIVE: We investigated patterns and predictors of health service utilization (HSU) among children with autism spectrum disorder (ASD) and global developmental delays (GDD, non-ASD) attending tertiary services in a resource-constrained setting. METHOD: Caregivers and children (diagnosed with either ASD or GDD) attending the developmental service were enrolled into a retrospective cohort study. Sociodemographic factors, clinical factors, and service use over the preceding year were collected using structured questionnaires and medical record reviews. RESULTS: We enrolled 240 households (116 ASD, 124 GDD; ages 3-8 years; male:female ratio 2:1). The majority (84%) had moderate-to-severe symptoms, and 42% were nonverbal. Children with GDD had higher levels of underlying syndromic diagnoses than those with ASD (46, 37.1%; 14, 9.5%); (p < 0.01) and more co-occurring comorbidities (51, 41.0%; 14, 12.1%; p = 0.0001). Those with GDD had higher mean total HSU visits (13.3; 11.5; p = 0.02), higher mean specialist visits (4.0:2.0; p = 0.001), and more hospitalizations than those with ASD (38, 31%; 16, 14%; p = 0.02). Other services were similarly attended by both groups: therapy 6.0 (2.0-10.0), emergency visits 1.0 (1.0-2.0), auxiliary services 0 (0-1.0), and primary care visits 0 (0-1.0). Having an employed parent was the strongest predictor of increased HSU (p = 0.05). CONCLUSION: Despite high functional impairment in this cohort, many households underutilized therapy services. There was skewed attendance of emergency and specialist services over primary care services. Children with GDD had greater HSU compared with those with ASD, primarily because of more specialist visits. HSU could be improved by caregiver education, household economic empowerment, and strengthening of primary care services.

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17. Owens KM, Terhaar C, Zdrodowski J, Johnson LR, Eveleigh D. Refining reproductive risk for FMR1 premutation carriers in the general obstetric population. American journal of medical genetics Part A. 2022; 188(5): 1476-81.

Female FMR1 premutation (FMR1 PM) carriers for fragile X syndrome (FXS) are at risk to have a child with FXS based on their CGG repeat size and AGG interruption number. Studies examining this risk in unselected populations of female PM carriers are lacking. This retrospective cohort study analyzed carrier status, CGG repeat length, AGG interruption result, and reproductive risk refinement in a population of female patients who underwent routine carrier screening for FXS. A total of 1536 PM carriers (0.43%) were identified, 95% of whom had between 55 and 90 CGG repeats. A number of 1334 carriers underwent AGG interruption testing. The majority had at least one AGG interruption and received a lower reproductive risk for FXS following AGG interruption testing (89% and 85%, respectively) as compared to their risk calculated based on CGG repeat size alone. The average change in risk across the population following AGG interruption testing was -3.4%, with a range from -50.8% to 48.9%. This article describes the range of CGG repeats and AGG interruptions in an unselected population of female PM carriers and suggests that most carriers would benefit from AGG interruption testing to refine their reproductive risk of having a child with FXS.

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18. Raghavan K, Dedeepiya VD, Ikewaki N, Sonoda T, Iwasaki M, Preethy S, Abraham SJ. Improvement of behavioural pattern and alpha-synuclein levels in autism spectrum disorder after consumption of a beta-glucan food supplement in a randomised, parallel-group pilot clinical study. BMJ neurology open. 2022; 4(1): e000203.

BACKGROUND: Autism spectrum disorders (ASDs) are a wide range of behavioural disabilities for which there are no definite interventional modalities available. Remedial therapies remain the only option but with varying outcomes. We have evaluated the Childhood Autism Rating Scale (CARS) and alpha-synuclein levels in this parallel-group, multiple-arm pilot clinical study after supplementation with a biological response modifier beta-glucan food supplement (Nichi Glucan). METHODS: Six subjects with ASD (n=6) Gr. 1 underwent conventional treatment comprising remedial behavioural therapies and L-carnosine 500 mg per day, and 12 subjects (n=12) Gr. 2 underwent supplementation with the Nichi Glucan 0.5 g two times per day along with the conventional treatment. RESULTS: There was a significant decrease in the CARS score in all of the children of the Nichi Glucan Gr.2 compared with the control (p=0.034517). Plasma levels of alpha-synuclein were significantly higher in Gr. 2 (Nichi Glucan) than in the control group Gr. 1 (p=0.091701). CONCLUSION: Improvement of the behavioural pattern CARS score and a correlating alpha-synuclein level, followed by a safe beta-glucan food supplement, warrants further research on other parameters, such as gut-microbiota evaluation, and relevant neuronal biomarkers which is likely to cast light on novel solutions.

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19. Song A, Mousa HM, Soifer M, Perez VL. Recognizing vitamin A deficiency: special considerations in low-prevalence areas. Current opinion in pediatrics. 2022; 34(2): 241-7.

PURPOSE OF REVIEW: Although vitamin A deficiency (VAD) is rare in well resourced countries, there is a growing trend of VAD in at-risk pediatric populations. Early diagnosis is critically important to prevent its associated morbidity and mortality. This review highlights key lessons for evaluation, diagnosis, and management of children with xerophthalmia in the United States. It synthesizes the latest findings from the literature on the pathophysiology, epidemiology, risk factors, evaluation, and management of VAD in low-prevalence areas. RECENT FINDINGS: Vitamin A is crucial for maintaining the functional integrity of the eye, immune system, skin, and mucous membranes. Despite the scarcity of VAD in developed countries, there are increasing reports of VAD in at-risk children, including those with autism spectrum disorder and gastrointestinal conditions. There is a broad range of manifestations of VAD, posing a diagnostic challenge. Familiarity with the variable presentations of VAD and having a high index of suspicion in at-risk populations can aid in its early diagnosis. Systemic vitamin A supplementation and a multidisciplinary approach are important components of the management of VAD. SUMMARY: Even in well resourced countries, VAD should remain on the differential in patients with risk factors who present with relevant signs and symptoms. Early diagnosis and appropriate involvement of a multidisciplinary care team can help prevent morbidity and mortality associated with VAD.

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20. Sukiennik R, Marchezan J, Scornavacca F. Challenges on Diagnoses and Assessments Related to Autism Spectrum Disorder in Brazil: A Systematic Review. Frontiers in neurology. 2021; 12: 598073.

Being a continental country, with over 210 million citizens, Brazil is similar to all of those who are part of the LAMIC (Low and middle income countries). It shows a big concentration of wealth, mainly in its south and southeast regions, as well as areas with immense poverty. In that sense, the health system also faces a huge amount of contrast. Inside University hospitals and facilities there are sophisticated tools and trained doctors prepared to assist in any kind of medical subject, including autism. But, unfortunately, at other times, the access to a good health system is made much harder. This results in many issues in the medical community, e.g., looking at the data regarding autism, there is a high average of the age of diagnosis. Another issue is the low number of professionals trained in ASD diagnosis and the few tools translated to Portuguese.

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21. Wang Y, Peng S, Shao Z, Feng T. Active Viewing Facilitates Gaze to the Eye Region in Young Children with Autism Spectrum Disorder. Journal of autism and developmental disorders. 2022.

Previous studies have shown reduced attention to the eyes in individuals with autism spectrum disorder (ASD). However, most eye-tracking evidence regarding this impairment has been derived from passive viewing tasks. Here, we compared the passive viewing of faces with an active task involving face identification with morphing faces. While typical controls prioritized the eyes over other facial features regardless of viewing condition, autistic children exhibited reduced eye-looking in passive viewing, but displayed increased attention allocation to the eyes when instructed to identify faces. The proportional eye-looking in ASD during facial recognition was negatively related to the autism symptoms severity. These findings provide evidence regarding the specific situations in which diminished eye-looking may rise in young ASD children.

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22. Wilson NJ, Pracilio A, Kersten M, Morphet J, Buckely T, Trollor JN, Griffin K, Bryce J, Cashin A. Registered nurses’ awareness and implementation of reasonable adjustments for people with intellectual disability and/or autism. Journal of advanced nursing. 2022.

AIM: To describe Australian registered nurses’ awareness, and implementation of reasonable adjustments within their practice when caring for people with intellectual disability and/or autism. Additionally, the association between key demographic, workforce, and respondent variables and familiarity of the term and regularity of use was explored. DESIGN: Cross-sectional survey. METHODS: Survey data were collected between August and October 2020 using an online survey tool. Data were analysed using descriptive and inferential statistics. RESULTS: Familiarity of the concept of reasonable adjustments was relatively low, compared to respondents who report applying adjustments when caring for people with intellectual disability and/or autism. Higher levels of confidence, comfort, and knowledge when caring for this cohort were associated with greater awareness and application of reasonable adjustments. CONCLUSION: A higher volume, and diversity in type of, nursing education related to care for people with intellectual disability and/or autism is indicated.

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23. Yoon YJ, Bassell GJ. Diversity on location. eLife. 2022; 11.

The RNA binding protein FMRP regulates the synthesis of synaptic and nuclear proteins within different compartments of a neuron.

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