1. Branca M. Slivers of the spectrum. Nature biotechnology. 2021; 39(5): 540-5.

Large-scale genomic studies are reinvigorating interest in a small group of molecularly defined autism-associated disorders and spurring renewed interest in genetic therapies.

Lien vers le texte intégral (Open Access ou abonnement)

2. Bremer E, Lloyd M. Baseline behaviour moderates movement skill intervention outcomes among young children with autism spectrum disorder. Autism : the international journal of research and practice. 2021; 25(7): 2025-33.

It is common for children with autism spectrum disorder to experience delays in their movement skills. These skills are important for participation in play and physical activity. Previous research has found that movement skills can be improved with movement skill interventions. This study explored the behavioural factors of young children with autism spectrum disorder that make them most likely to improve their movement skills following a 12-week intervention. The study found that children with higher levels of adaptive behaviour and lower levels of emotional and behavioural challenges at the start of the intervention were more likely to have greater improvements in their movement skills following the intervention. These findings may help clinicians and caregivers plan which types of interventions are best suited for individual children with autism spectrum disorder.

Lien vers le texte intégral (Open Access ou abonnement)

3. Jonsdottir-Lewis E, Feld A, Ciarlo R, Denhoff E, Feldman HA, Chan YM. Timing of Pubertal Onset in Girls and Boys With Constitutional Delay. The Journal of clinical endocrinology and metabolism. 2021; 106(9): e3693-e703.

CONTEXT: The decision whether to treat a child with delayed puberty with sex steroids is primarily based on patient, family, and provider preference. Knowing when children with constitutional delay eventually enter puberty would inform this decision. OBJECTIVE, DESIGN, SETTING, PARTICIPANTS, AND OUTCOME MEASURES: To estimate and compare rates of pubertal entry, we conducted a retrospective cohort study by reviewing medical records of children evaluated for delayed puberty at a large academic medical center between 2000 and 2015, extracting data on pubertal status for all clinical visits, then conducting time-to-event analyses. RESULTS: Of 392 girls and 683 boys with delayed puberty, constitutional delay was the most common cause, found in 32% of girls and 70% of boys. In a subcohort of 97 girls and 243 boys who were prepubertal at one or more visits, we observed a broad age range for pubertal entry, up to >16 years for girls and >17 years for boys. The probability of entering puberty within the next year for 12- to 15.5-year-old girls and 13.5- to 16.5-year-old boys with delayed puberty ranged between 38% and 74%. No differences in the rates of pubertal entry were seen between girls and boys after data harmonization. CONCLUSION: The broad range of ages at pubertal entry for children with constitutional delay challenges the concept that constitutional delay is merely an extreme of normal variation. Discussions with patients and families about management should consider the possibility that some children may need to wait years after presentation until puberty starts.

Lien vers le texte intégral (Open Access ou abonnement)

4. Kaat AJ, Zelko F, Wilkening G, Berg AT. Evaluation of the Aberrant Behavior Checklist for Developmental and Epileptic Encephalopathies. Epilepsy & behavior : E&B. 2021; 119: 107958.

OBJECTIVES: To determine the suitability of the Aberrant Behavior Checklist (ABC)-a common measure used in clinical trials for treatment of challenging behaviors of autism-as an outcome measure for pharmacological and behavioral interventions for young people with Developmental and Epileptic Encephalopathies (DEEs). METHODS: We assessed score profiles on the ABC in a sample of 122 young people with DEEs, including Dravet and Lennox-Gastaut syndromes, and KCNQ2- SCN2A-, and KCNB1-associated disorders. Then we examined its internal structure using item cluster analysis. We used both unrestricted item cluster analysis to determine the number of item clusters that maximize reliability and restricted analyses in which we pre-specified models with 5-, 6-, and 7-clusters, to examine consistency with previous factor analytic studies. We also conducted validity analysis on the various scoring methods with age, sex, and autism spectrum screening measure scores. RESULTS: Unrestricted item cluster analysis suggested that three clusters maximized reliability of ABC scores. These broadly represented other-directed behaviors (i.e., « externalizing »), self-directed behaviors (i.e., « internalizing »), and inappropriate speech. Restricted models separated item clusters for stereotypy from other self-directed problem behaviors, and self-injurious behaviors from the other externalizing behaviors. Validity analysis also supported these structures. Overall, all scores were low, and less than 20% of DEE participants had symptoms severe enough to qualify for most randomized trials of behavioral therapies. SIGNIFICANCE: These results are broadly consistent with the extant ABC scoring algorithms. They suggest a high internal consistency reliability, which may support the use of the ABC in future clinical trials in patients with DEEs who exhibit the behaviors assessed by the ABC. Alternatively, concerns about overall low scores raise cautions about using the ABC as a measure of behavior in unselected populations with DEE.

Lien vers le texte intégral (Open Access ou abonnement)

5. Manfredi M, Cohn N, Ribeiro B, Sanchez Pinho P, Fernandes Rodrigues Pereira E, Boggio PS. The electrophysiology of audiovisual processing in visual narratives in adolescents with autism spectrum disorder. Brain and cognition. 2021; 151: 105730.

We investigated the semantic processing of the multimodal audiovisual combination of visual narratives with auditory descriptive words and auditory sounds in individuals with ASD. To this aim, we recorded ERPs to critical auditory words and sounds associated with events in visual narrative that were either semantically congruent or incongruent with the climactic visual event. A similar N400 effect was found both in adolescents with ASD and neurotypical adolescents (ages 9-16) when accessing different types of auditory information (i.e. words and sounds) into a visual narrative. This result might suggest that verbal information processing in ASD adolescents could be facilitated by direct association with meaningful visual information. In addition, we observed differences in scalp distribution of later brain responses between ASD and neurotypical adolescents. This finding might suggest ASD adolescents differ from neurotypical adolescents during the processing of the multimodal combination of visual narratives with auditory information at later stages of the process. In conclusion, the semantic processing of verbal information, typically impaired in individuals with ASD, can be facilitated when embedded into a meaningful visual information.

Lien vers le texte intégral (Open Access ou abonnement)

6. Ramos-Sánchez CP, Kortekaas D, Van Biesen D, Vancampfort D, Van Damme T. The Relationship between Motor Skills and Intelligence in Children with Autism Spectrum Disorder. Journal of autism and developmental disorders. 2022; 52(3): 1189-99.

This study explored the association between intelligence and motor skills in children with ASD after controlling for Attention Deficit and Hyperactivity Disorder (ADHD) and the associations between motor impairment and intellectual disability (ID) in this population. In total, 120 children with ASD (3-16 years; 81.7% boys) completed a standardized intelligence test, the Movement Assessment Battery for Children and Beery-Buktenica Developmental Test of Visual-Motor Integration. Variance in performance IQ was associated with 20.8% of the variance in motor skills while significant associations were found between comorbid ID and motor impairment (ɸ = 0.304). Manual Dexterity and Balance are moderately influenced by performance IQ in children with ASD. Furthermore, presence of ID is also moderately associated with motor impairment in this population.

Lien vers le texte intégral (Open Access ou abonnement)

7. Seernani D, Ioannou C, Damania K, Hill H, Foulsham T, Smyrnis N, Biscaldi M, Klein C. Social and non-social gaze cueing in autism spectrum disorder, attention-deficit/hyperactivity disorder and a comorbid group. Biological psychology. 2021; 162: 108096.

Recent trends in literature, along with the changes to the Diagnostic and Statistical Manual (DSM), make it imperative to study Attention-Deficit/Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) together, in order to better understand potential aetiological commonalities between these highly comorbid disorders. The present study examines social cueing, a highly studied construct in ASD, and intra-subject variability (ISV), a potential endophenotype of ADHD, in four groups of typically developing (TD), ADHD, ASD- (ASD without ADHD), ASD+ (ASD with ADHD) participants (N = 85) aged 10-13 years. Results showed that social cueing is intact in the ‘pure’ ASD group when task expectations are clear. The ADHD group showed faster saccadic reaction times, no increased ISV and a pattern of viewing comparable to the TD group. However, the ASD + group showed a differences in processing style and ISV. A secondary analysis gives evidence of non-additive effects of the ASD and ADHD factors.

Lien vers le texte intégral (Open Access ou abonnement)

8. So WC, Song XK, Cheng CH, Law WW, Wong T, Leung OK, Huang Y. Conversation Skills in Chinese-Speaking Preschoolers with Autism: The Contributing Role of Parents’ Verbal Responsiveness. Journal of autism and developmental disorders. 2022; 52(3): 1106-19.

Children with autism spectrum disorder (ASD) have conversation deficits, yet the growth of conversation abilities is understudied, especially in Chinese-speaking populations. Little is known about whether their parents’ verbal responsiveness and redirectives are related to their conversation skills. Children with ASD (N = 37; M = 5;5) and their parents contributed their language samples. These children interacted with their parents at four time points over nine months. The number of conversational turns and the proportion of child-initiated conversation (but not the proportion of children’s appropriate responses) grew over nine months. After controlling for time, autism severity, and language skills, parents’ verbal responsiveness positively predicted children’s appropriate responses. Parents’ redirectives negatively predicted the proportion of children’s appropriate responses and the number of conversational turns.

Lien vers le texte intégral (Open Access ou abonnement)

9. Somerton M, Stolyarova V, Khanin S. Autism and the Knowledge and Beliefs of Specialists in Kazakhstan. Journal of autism and developmental disorders. 2022; 52(3): 1156-68.

In Kazakhstan, the diagnosis of autism relies upon the expertise of various specialists and a range of measures that have not been researched to date. The present study collected data from a range of health specialists across Kazakhstan currently known to be involved in the diagnosis of children with autism. The research was an explanatory mixed methods design; survey followed by interviews. Participants included psychiatrists, pediatric neurologists, general practitioners, and other specialists. Analysis showed a range of beliefs including common misconceptions concerning the etiology and manifestation of autism not aligned with current research knowledge. These beliefs were shown to persist across disciplines and were not restricted to any specific region of the country, or particular profession.

Lien vers le texte intégral (Open Access ou abonnement)

10. Sugimoto Y, Yamamura K, Takayama T, Fukuta Y, Aoki K, Mikami K, Tomoda A. Aripiprazole in the real-world treatment for irritability associated with autism spectrum disorder in children and adolescents in Japan: 52-week post-marketing surveillance. BMC psychiatry. 2021; 21(1): 204.

BACKGROUND: The purpose of this study was to evaluate the post-marketing safety and effectiveness of aripiprazole in treating irritability in pediatric patients (6-17 years) with autism spectrum disorder (ASD) in actual clinical sites of Japan. METHODS: In this post-marketing surveillance, patients were enrolled into the multicenter, prospective, non-interventional, observational study for 52 weeks, and were dosed with aripiprazole (1-15 mg/day) under daily clinical settings in Japan. RESULTS: In 510 patients, the continuation rate of aripiprazole treatment was 84.6% at day 168 (week 24) and 78.1% at day 364 (week 52). Adverse drug reactions (ADRs) occurred in 22.7% of patients (n = 116), and the most common ADRs were somnolence (9.4%), followed by weight increased (3.3%). At week 4, the mean change from baseline in the irritability subscale score for the Aberrant Behavior Checklist Japanese version (ABC-J) was - 5.7 ± 6.8 (n = 288). Based on multiple regression analysis, comorbid attention deficit and hyperactivity did not affect the ABC-J irritability subscale score at endpoint. At week 24, the mean change from baseline for the Strengths and Difficulties Questionnaire was - 3.3 ± 4.9 (n = 215) for the total difficulties score and 0.6 ± 1.7 (n = 217) for the prosocial behavior subscale score. CONCLUSIONS: Aripiprazole was well tolerated and effective in the long-term treatment of irritability associated with ASD in Japanese pediatric patients in the real-world clinical practice. TRIAL REGISTRATION: This surveillance was registered with Clinical Trial.gov (no. NCT03179787 ) on June 7, 2017 (retrospectively registered).

Lien vers le texte intégral (Open Access ou abonnement)

11. Takayanagi M, Kawasaki Y, Shinomiya M, Hiroshi H, Okada S, Ino T, Sakai K, Murakami K, Ishida R, Mizuno K, Niwa SI. Correction to: Review of Cognitive Characteristics of Autism Spectrum Disorder Using Performance on Six Subtests on Four Versions of the Wechsler Intelligence Scale for Children. Journal of autism and developmental disorders. 2022; 52(1): 254.

Lien vers le texte intégral (Open Access ou abonnement)

12. Wang X, Zhao J, Huang S, Chen S, Zhou T, Li Q, Luo X, Hao Y. Cognitive Behavioral Therapy for Autism Spectrum Disorders: A Systematic Review. Pediatrics. 2021; 147(5).

CONTEXT: In several studies, authors have reported on cognitive behavioral therapy (CBT) for children and adolescents with autism spectrum disorders (ASDs), but inconsistent treatment effectiveness was revealed from these studies. OBJECTIVE: To evaluate the effectiveness of CBT on the symptoms of ASD and social-emotional problems in children or adolescents with ASD by using a meta-analytic approach. DATA SOURCES: Data sources included PubMed, Embase, and the Cochrane Library. STUDY SELECTION: We selected randomized controlled trials (RCTs) in which authors reported effectiveness of CBT on the symptoms of ASD and social-emotional problems in children or adolescents with ASD from database inception to May 2019. DATA EXTRACTION: For each study, 2 authors extracted data on the first author’s surname, publication year, country, sample size, mean age, CBT target, intervention, outcome measurement, follow-up duration, and investigated outcomes. RESULTS: Forty-five RCTs and 6 quasi RCTs of 2485 children and adolescents with ASDs were selected for the final meta-analysis. There was no significant difference between CBT and control for symptoms related to ASD based on self-reported outcomes (standard mean difference: -0.09; 95% confidence interval: -0.42 to 0.24; P = .593), whereas CBT significantly improved the symptoms related to ASD based on informant-reported outcomes, clinician-rated outcomes, and task-based outcomes. Moreover, the pooled standard mean differences indicated that CBT has no significant effect on symptoms of social-emotional problems based on self-reported outcomes. LIMITATIONS: The quality of included studies was low to modest, significant heterogeneity among the included studies for all investigated outcomes was detected, and publication bias was inevitable. CONCLUSIONS: These findings indicate that CBT may significantly improve the symptoms of ASD and social-emotional problems in children or adolescents with ASD.

Lien vers le texte intégral (Open Access ou abonnement)