1. Bal VH, Wilkinson E, Fok M. Cognitive profiles of children with autism spectrum disorder with parent-reported extraordinary talents and personal strengths. Autism : the international journal of research and practice. 2022; 26(1): 62-74.

Previous research has suggested that focusing on impairments can be detrimental to the well-being of autistic individuals, yet little research has focused on strengths and positive qualities in autism. Some studies explored « savant skills » (herein referred to as « extraordinary talents »), that is, skills that stand out compared to the general population. These often group everyone who has a specific talent, rather than exploring subgroups with strengths in specific areas. There has been even less research focused on personal strengths (i.e. skills that stand out relative to the individual’s other abilities, but not the general population). To expand this research, we use a sample of 1470 children (ages 4-18 years) from the Simons Simplex Collection without cognitive impairment to examine the relationship between having a parent-reported skill in a specific area and performance on a standardized cognitive test. Almost half (46%) had at least one parent-reported talent and an additional 23% without extraordinary talents had at least one personal strength. Children with these parent-reported skills had different patterns of performance on these standardized tests than children without skills in that area (i.e. visuospatial, drawing, computation, reading, and memory). Specific skills in computation or reading were associated with higher overall performance on the standardized tests. These results emphasize the importance of considering strengths separately by area, rather than combining individuals with different types of strengths. The high number of children with skills in this study underscores the need for more research in this area, particularly using instruments focused on understanding the nuances of these strengths. It is important for future studies to consider these skills in children with cognitive impairment.

Lien vers le texte intégral (Open Access ou abonnement)

2. Coll-Tané M, Gong NN, Belfer SJ, van Renssen LV, Kurtz-Nelson EC, Szuperak M, Eidhof I, van Reijmersdal B, Terwindt I, Durkin J, Verheij MMM, Kim CN, Hudac CM, Nowakowski TJ, Bernier RA, Pillen S, Earl RK, Eichler EE, Kleefstra T, Kayser MS, Schenck A. The CHD8/CHD7/Kismet family links blood-brain barrier glia and serotonin to ASD-associated sleep defects. Science advances. 2021; 7(23).

Sleep disturbances in autism and neurodevelopmental disorders are common and adversely affect patient’s quality of life, yet the underlying mechanisms are understudied. We found that individuals with mutations in CHD8, among the highest-confidence autism risk genes, or CHD7 suffer from disturbed sleep maintenance. These defects are recapitulated in Drosophila mutants affecting kismet, the sole CHD8/CHD7 ortholog. We show that Kismet is required in glia for early developmental and adult sleep architecture. This role localizes to subperineurial glia constituting the blood-brain barrier. We demonstrate that Kismet-related sleep disturbances are caused by high serotonin during development, paralleling a well-established but genetically unsolved autism endophenotype. Despite their developmental origin, Kismet’s sleep architecture defects can be reversed in adulthood by a behavioral regime resembling human sleep restriction therapy. Our findings provide fundamental insights into glial regulation of sleep and propose a causal mechanistic link between the CHD8/CHD7/Kismet family, developmental hyperserotonemia, and autism-associated sleep disturbances.

Lien vers le texte intégral (Open Access ou abonnement)

3. Garrido D, López B, Carballo G. Bilingualism and language in children with autistic spectrum disorder: a systematic review. Neurologia (Barcelona, Spain). 2021.

INTRODUCTION: Communication and language skills are among the most severely affected domains in individuals with autistic spectrum disorder (ASD). When a child diagnosed with ASD lives in a bilingual environment, the parents often express concerns about whether their child should learn both languages simultaneously, turning to specialists for advice. Despite the lack of evidence of any negative effect, some professionals disagree on this subject. In this systematic review we study whether bilingualism affects language development in children with ASD. METHODS: We reviewed the literature published in 4 different databases. After applying a series of selection criteria, we selected 12 scientific articles, including a total of 328 children diagnosed with ASD (169 bilingual and 159 monolingual), with ages ranging from 3 to 12 years. These patients were evaluated with different receptive and expressive language assessment instruments covering several areas. The assessments were performed directly on the children, although indirect assessment of parents was also performed in some studies. CONCLUSIONS: There seems to be consensus regarding the assertion that bilingualism does not entail any additional difficulty for language development in children with ASD from the age of 3.

Lien vers le texte intégral (Open Access ou abonnement)

4. Habayeb S, Kenworthy L, De La Torre A, Ratto A. Still Left Behind: Fewer Black School-Aged Youth Receive ASD Diagnoses Compared to White Youth. Journal of autism and developmental disorders. 2022; 52(5): 2274-83.

Prior research suggests that Black children are at risk for delays in diagnosis of autism, but factors that influence diagnostic timing across races remain unclear. This study analyzed data from Black and White children who received a first-time autism diagnosis at a specialty clinic. Black youth were under-represented in the group who received a first diagnosis in middle/late childhood (i.e., after age six). Receiving a diagnosis later in childhood was related to higher IQ (trend level) and more internalizing problems for White children whereas it was related to lower IQ (trend level) and higher ASD symptom intensity for Black children. Findings suggest racial disparities in early identification of autism may be diminishing but persist among those diagnosed later in childhood..

Lien vers le texte intégral (Open Access ou abonnement)

5. Hatch HAM, O’Neil MH, Marion RW, Secombe J, Shulman LH. Caregiver-reported characteristics of children diagnosed with pathogenic variants in KDM5C. American journal of medical genetics Part A. 2021; 185(10): 2951-8.

Loss of function variants in the lysine demethylase 5C (KDM5C) gene account for approximately 0.7-2.8% of X-linked intellectual disability (ID) cases and pose significant burdens for patients and their caregivers. To date, 45 unique variants in KDM5C have been reported in individuals with ID. As a rare disorder, its etiology and natural history remain an area of active investigation, with treatment limited to symptom management. Previous studies have found that males present with moderate to severe ID with significant syndromic comorbidities such as epilepsy, short stature, and craniofacial abnormalities. Although not as well characterized, females have been reported to predominantly display mild to moderate ID with approximately half being asymptomatic. Here, we present caregiver-reported data for 37 unrelated individuals with pathogenic variants in KDM5C; the largest cohort reported to-date. We find that up to 70% of affected females were reported to display syndromic features including gastrointestinal dysfunction and hearing impairment. Additionally, more than half of individuals reported a diagnosis of autism spectrum disorder or described features consistent with this spectrum. Our data thus provide further evidence of sexually dimorphic heterogeneity in disease presentation and suggest that pathogenic variants in KDM5C may be more common than previously assumed.

Lien vers le texte intégral (Open Access ou abonnement)

6. Higgins JM, Arnold SR, Weise J, Pellicano E, Trollor JN. Defining autistic burnout through experts by lived experience: Grounded Delphi method investigating #AutisticBurnout. Autism : the international journal of research and practice. 2021; 25(8): 2356-69.

Autistic burnout has been commonly described in social media by autistic people. There is little mention of autistic burnout in the academic literature. Only one recent study has used interviews and reviews of social media descriptions to try to understand autistic burnout. Anecdotally, autistic burnout is a very debilitating condition that reduced people’s daily living skills and can lead to suicide attempts. It is suggested that autistic burnout is caused by the stress of masking and living in an unaccommodating neurotypical world. We wanted to create a definition of autistic burnout that could be used by clinicians and the autism community. We used the Grounded Delphi method, which allowed autistic voice to lead the study. Autistic adults who had experienced autistic burnout were considered as experts on the topic, in the co-production of this definition. The definition describes autistic burnout as a condition involving exhaustion, withdrawal, problems with thinking, reduced daily living skills and increases in the manifestation of autistic traits. It is important for future research that there is a specific description of the condition. In practice, it is important for clinicians to be aware that autistic burnout is different from depression. Psychological treatments for depression potentially could make autistic burnout worse. Further awareness of autistic burnout is needed, as well as further research to prove this condition is separate from depression, chronic fatigue and non-autistic burnout.

Lien vers le texte intégral (Open Access ou abonnement)

7. Khajali Z, Firouzi A, Pouraliakbar H, Hosseini Z, Jorfi F. Case report of worsening of preexisting pericardial effusion after ASD device closure: is it calamitous?. The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology. 2021; 73(1): 50.

BACKGROUND: Secundum-type atrial septal defects (ASD) constitute 8% to 10% of congenital heart defect. Secundum ASDs can be closed either percutaneously or surgically. However, ASD device closure has proven to be technically safe and feasible; it is not free of complications. These complications include device embolization/malposition which have been reported in 3.5% of cases, arrhythmia, and pericardial effusion in 2.6% and 0.5-1.5% respectively, device thrombus, residual shunting, and impingement of the device on the adjacent structures. CASE PRESENTATION: We introduce three patients with secundum ASD who had preexisting pericardial effusion, device closure was performed for them, and after the procedure, the effusion size progressed significantly. We used multimodality imaging to diagnose the cause of pericardial effusion (PE). Cardiac erosion was diagnosed in one of the patients that managed surgically. We did not found any specific procedure-related cause for worsening the pericardial effusion in the other two patients. CONCLUSION: Several reasons include procedure-related complication and other systemic causes should be considered in patients who develop pericardial effusion after trans catheter closure of ASDs.

Lien vers le texte intégral (Open Access ou abonnement)

8. Ortiz-Rubio A, Torres-Sánchez I, Cabrera-Martos I, Rodríguez-Torres J, López-López L, Prados-Román E, Valenza MC. The Caregiver Burden Inventory as a Sleep Disturbance Screening Tool for Parents of Children with Autism Spectrum Disorder. Journal of pediatric nursing. 2021; 61: 166-72.

PURPOSE: The study was conducted to explore the degree to which caregiver burden is associated with sleep quality in parents of children with autism spectrum disorder, and to determine a statistically valid cutoff score for the Caregiver Burden Inventory (CBI) in order to identify parents of risk of poor sleep quality. DESIGN AND METHODS: We conducted a cross-sectional analysis. We assessed caregiver burden with the CBI, sleep quality with the Pittsburgh Sleep Quality Index, emotional status with the Hospital Anxiety and Depression Scale, and impact on family with the Impact on Family Scale. Caregiver burden was evaluated with a logistic regression analysis. The best fit model was used in a receiver operating characteristic analysis. Likelihood ratios and post-test probabilities were calculated. RESULTS: A total of 116 parents were included in this study. Higher caregiver burden was associated with a reduction in sleep quality in the logistic regression analysis (p < 0.001). The area under the curve for the univariate burden test model (best fit) was 76.70 (p < 0.001). The cutoff score for poor sleep quality was caregiver burden ≥26.50. The post-test probability of poor sleep quality increased to 82.02% from a pre-test probability of 76.72%. CONCLUSIONS: Our findings suggest that caregiver burden is associated with sleep quality among parents of children with autism spectrum disorder. The findings suggest that a CBI cutoff score of 26.50 may help to detect risk of poor sleep quality in parents of children with autism spectrum disorder.

Lien vers le texte intégral (Open Access ou abonnement)

9. Pickard H, Pellicano E, den Houting J, Crane L. Participatory autism research: Early career and established researchers’ views and experiences. Autism : the international journal of research and practice. 2022; 26(1): 75-87.

‘Participatory autism research’ refers to ways of involving autistic people and their allies (e.g. family members) in making decisions about research. These decisions can include what research gets done, how it gets done and how research findings are used. While there is more and more interest in participatory autism research, we know little about how researchers at different stages of their careers use this approach. To find out more, we discussed these issues with 25 researchers. Fourteen of these were at an early stage of their careers, and 11 were more senior researchers. We spoke to people in individual interviews or in groups. We then used a technique called thematic analysis to analyse our data, which involved us looking for common topics or ‘themes’ discussed by our participants. What did we find? Our participants told us that participatory autism research was a flexible approach, meaning that autistic people can be involved in research in many different ways. While people viewed this flexibility in a positive way, it also caused some confusion about what does or does not ‘count’ as participatory research. Our participants also spoke about how important it was to build relationships with those involved in their research, but they also said it could be difficult to communicate well with diverse groups of people who may not have much experience of research. Finally, our participants said it was hard to do participatory research when there was not much time, funding or support available to researchers. In this article, we discuss these findings, focusing on what needs to change to ensure that autistic people and their allies are meaningfully involved in autism research.

Lien vers le texte intégral (Open Access ou abonnement)

10. Rodgers JD, Lopata C, Booth AJ, Thomeer ML, Donnelly JP, Rajnisz CJ, Wood JT, Lodi-Smith J, Kozlowski KF. Psychometric properties of the Cambridge-Mindreading Face-Voice Battery for Children in children with ASD. Autism research : official journal of the International Society for Autism Research. 2021; 14(9): 1965-74.

This study examined the psychometric characteristics of the Cambridge-Mindreading Face-Voice Battery for Children (CAM-C) for a sample of 333 children, ages 6-12 years with ASD (with no intellectual disability). Internal consistency was very good for the Total score (0.81 for both Faces and Voices) and respectable for the Complex emotions score (0.72 for Faces and 0.74 for Voices); however, internal consistency was lower for Simple emotions (0.65 for Faces and 0.61 for Voices). Test-retest reliability at 18 and 36 weeks was very good for the faces and voices total (0.76-0.81) and good for simple and complex faces and voices (0.53-0.75). Significant correlations were found between CAM-C Faces and scores on another measure of face-emotion recognition (Diagnostic Analysis of Nonverbal Accuracy-Second Edition), and between Faces and Voices scores and child age, IQ (except perceptual IQ and Simple Voice emotions), and language ability. Parent-reported ASD symptom severity and the Emotion Recognition scale on the SRS-2 were not related to CAM-C scores. Suggestions for future studies and further development of the CAM-C are provided. LAY SUMMARY: Facial and vocal emotion recognition are important for social interaction and have been identified as a challenge for individuals with autism spectrum disorder. Emotion recognition is an area frequently targeted by interventions. This study evaluated a measure of emotion recognition (the CAM-C) for its consistency and validity in a large sample of children with autism. The study found the CAM-C showed many strengths needed to accurately measure the change in emotion recognition during intervention.

Lien vers le texte intégral (Open Access ou abonnement)

11. Sarn N, Thacker S, Lee H, Eng C. Germline nuclear-predominant Pten murine model exhibits impaired social and perseverative behavior, microglial activation, and increased oxytocinergic activity. Molecular autism. 2021; 12(1): 41.

BACKGROUND: Autism spectrum disorder (ASD) has a strong genetic etiology. Germline mutation in the tumor suppressor gene PTEN is one of the best described monogenic risk cases for ASD. Animal modeling of cell-specific Pten loss or mutation has provided insight into how disruptions to the function of PTEN affect neurodevelopment, neurobiology, and social behavior. As such, there is a growing need to understand more about how various aspects of PTEN activity and cell-compartment-specific functions, contribute to certain neurological or behavior phenotypes. METHODS: To understand more about the relationship between Pten localization and downstream effects on neurophenotypes, we generated the nuclear-predominant Pten(Y68H/+) mouse, which is identical to the genotype of some PTEN-ASD individuals. We subjected the Pten(Y68H/+) mouse to morphological and behavioral phenotyping, including the three-chamber sociability, open field, rotarod, and marble burying tests. We subsequently performed in vivo and in vitro cellular phenotyping and concluded the work with a transcriptomic survey of the Pten(Y68H/+) cortex, which profiled gene expression. RESULTS: We observe a significant increase in P-Akt downstream of canonical Pten signaling, macrocephaly, decreased sociability, decreased preference for novel social stimuli, increased repetitive behavior, and increased thigmotaxis in Pten(Y68H/+) six-week-old (P40) mice. In addition, we found significant microglial activation with increased expression of complement and neuroinflammatory proteins in vivo and in vitro accompanied by enhanced phagocytosis. These observations were subsequently validated with RNA-seq and qRT-PCR, which revealed overexpression of many genes involved in neuroinflammation and neuronal function, including oxytocin. Oxytocin transcript was fivefold overexpressed (P = 0.0018), and oxytocin protein was strongly overexpressed in the Pten(Y68H/+) hypothalamus. CONCLUSIONS: The nuclear-predominant Pten(Y68H/+) model has clarified that Pten dysfunction links to microglial pathology and this associates with increased Akt signaling. We also demonstrate that Pten dysfunction associates with changes in the oxytocin system, an important connection between a prominent ASD risk gene and a potent neuroendocrine regulator of social behavior. These cellular and molecular pathologies may related to the observed changes in social behavior. Ultimately, the findings from this work may reveal important biomarkers and/or novel therapeutic modalities that could be explored in individuals with germline mutations in PTEN with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

12. Sheppard DP, Altgassen M. Did you hear? Auditory prospective memory cues are more beneficial for autistic than for non-autistic children and adolescents. Research in developmental disabilities. 2021; 115: 104001.

BACKGROUND: The transition from primary to secondary school is particularly difficult for autistic children, a transition underpinned by an increase in prospective memory (PM) demands. AIMS: To better understand PM in autistic children of the relevant age range and its underlying processes, the current study investigated the impact of cue salience (distinctiveness) on PM in autistic and non-autistic children and adolescents. The study was unique in manipulating the visual and auditory salience of PM cues. Salient cues are assumed to put lower demands on executive control resources as compared to cues that blend in with the ongoing activity. METHODS AND PROCEDURES: The children completed a computer-based categorisation task in which an event-based PM task was embedded. The salience of PM cues was manipulated (low, high visual and high auditory salience). OUTCOMES AND RESULTS: Results revealed that both groups benefitted from an increase in visual and auditory salience, but only autistic participants were faster to respond to auditory cues. CONCLUSIONS AND IMPLICATIONS: Increased cue salience improved PM performance for all children. Positive effects of auditory cues were especially evident in autistic children.

Lien vers le texte intégral (Open Access ou abonnement)

13. Tupou J, Curtis S, Taare-Smith D, Glasgow A, Waddington H. Māori and autism: A scoping review. Autism : the international journal of research and practice. 2021; 25(7): 1844-58.

Most current approaches to identifying, researching and managing autism are based on Western views and understandings. However, different cultural groups may understand and approach autism differently. We searched a wide range of websites, academic journals and other sources for published information related to autism and Māori, the indigenous people of Aotearoa/New Zealand. Our search identified 13 publications that addressed questions related to Māori understandings of autism, Māori prevalence rates and diagnostic and support services for Māori. Overall, we found broad differences in Māori and Western understandings of autism and slightly higher autism prevalence rates for Māori than for non-Māori New Zealanders. Findings also highlighted a need for diagnostic and support services that are both effective and culturally appropriate for Māori. We discuss what these findings might mean for future research and the provision of services for Māori with autism.

Lien vers le texte intégral (Open Access ou abonnement)

14. Weiss A, Wilson VAD, Hopkins WD. Early social rearing, the V1A arginine vasopressin receptor genotype, and autistic traits in chimpanzees. Autism research : official journal of the International Society for Autism Research. 2021; 14(9): 1843-53.

Previous studies found associations between autism-related phenotypes and both rearing and V1A arginine vasopressin receptor (AVPR1A) genotypes. We tested whether these exposures as well as their interaction were associated with autism-related phenotypes in 121 laboratory-housed chimpanzees. We used expert-derived weights to obtain autism scores from ratings on the 43-item Chimpanzee Personality Questionnaire; higher scores indicated more autistic-like traits. The first model included fixed effects for sex, age, and rearing, and a random effect that addressed the relatedness of subjects. The second model was the same except that it also included the rearing × AVPR1A genotype interaction as a fixed effect. Both models indicated that the phenotype was moderately heritable and that chimpanzees reared by their mothers had lower scores on the scale. The effect of genotype in both models indicated that chimpanzees with an indel deletion had higher scores on the scale, although the credible interval included zero. Moreover, the rearing × genotype interaction in the second model indicated that chimpanzees who possessed the non-deletion genotype and who were reared by their mother were at even greater risk. The credible interval for this effect did not include zero, but fit statistics indicated that the model without the interaction was marginally better, and the interaction was in the opposite direction than we expected based on previous work. These findings highlight the importance of rearing effects in the typical social development of our closet-living nonhuman relative. LAY SUMMARY: We tested whether, in chimpanzees, scores on a scale comprising traits that resembled aspects of autism were related to a gene associated with autism in prior research and/or early rearing. Human-reared chimpanzees had higher scores (indicating more autistic-like traits). Chimpanzees that possessed the gene also had higher scores, but we could not exclude the possibility that there was no effect of genotype. These findings suggest that we can measure autism-like characteristics in chimpanzees, and so study it in this species.

Lien vers le texte intégral (Open Access ou abonnement)

15. Zheng F, Liu G, Dang T, Chen Q, An Y, Wu M, Kong X, Qiu Z, Wu BL. GABA Signaling Pathway-associated Gene PLCL1 Rare Variants May be Associated with Autism Spectrum Disorders. Neuroscience bulletin. 2021; 37(8): 1240-5.

Lien vers le texte intégral (Open Access ou abonnement)