1. Alvares GA, Chen NTM, Notebaert L, Granich J, Mitchell C, Whitehouse AJO. {{Brief social attention bias modification for children with autism spectrum disorder}}. {Autism Res}. 2019.
Reduced social attention is a hallmark feature in autism spectrum disorder (ASD), emerging as early as the first year of life. This difference represents a possible mechanism impacting upon the development of more complex social-communicative behaviors. The aim of this study was to develop and test the efficacy of a novel attention bias modification paradigm to alter social attention, specifically orienting to faces. Children with ASD (n = 66), aged between 5 and 12 years, were randomized to play either a social attention training or control game for 15 min. Children playing the training game were reinforced for attending to and engaging with social characters, whereas children in the control group were equally rewarded for attending to both social and non-social characters. Eye-tracking measures were obtained before and after gameplay. There was a significant increase in the percentage of first fixations to faces, relative to objects, after social attention training compared to a control group, associated with a medium effect size (partial eta = 0.15). The degree of social attention change in the training group was inversely associated with restricted and repetitive behaviors and moderated by comorbid attention deficit hyperactivity disorder diagnoses, suggestive of differential training effects based on individual symptom profiles. By using the principles of attention bias modification, we demonstrated that social attention can be acutely modified in children with ASD, with an increased tendency to orient attention toward faces after brief social attention training. Modifying attentional biases may therefore represent a potential novel mechanism to alter the development of social communication trajectories. Autism Research 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Some children with autism spectrum disorder (ASD) do not look at faces or eyes as much as their non-ASD peers do. Using a game where players have to pay attention to characters with faces to score points, we found that children playing the game began to look more at faces, even outside of the game. Looking at faces is an important prerequisite to many social interactions, telling us about others’ emotions and states of attention-things that become harder to understand when they are not seen. If children with ASD could use games to help train looking at faces in real life, then they may be in a better position to understand and participate in social exchanges.
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2. Banerjee A, Miller MT, Li K, Sur M, Kaufmann WE. {{Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder}}. {Brain}. 2019.
With the recent 50th anniversary of the first publication on Rett syndrome, and the almost 20 years since the first report on the link between Rett syndrome and MECP2 mutations, it is important to reflect on the tremendous advances in our understanding and their implications for the diagnosis and treatment of this neurodevelopmental disorder. Rett syndrome features an interesting challenge for biologists and clinicians, as the disorder lies at the intersection of molecular mechanisms of epigenetic regulation and neurophysiological alterations in synapses and circuits that together contribute to severe pathophysiological endophenotypes. Genetic, clinical, and neurobiological evidences support the notion that Rett syndrome is primarily a synaptic disorder, and a disease model for both intellectual disability and autism spectrum disorder. This review examines major developments in both recent neurobiological and preclinical findings of Rett syndrome, and to what extent they are beginning to impact our understanding and management of the disorder. It also discusses potential applications of knowledge on synaptic plasticity abnormalities in Rett syndrome to its diagnosis and treatment.
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3. Bartholomay KL, Lee CH, Bruno JL, Lightbody AA, Reiss AL. {{Closing the Gender Gap in Fragile X Syndrome: Review on Females with FXS and Preliminary Research Findings}}. {Brain Sci}. 2019; 9(1).
Fragile X syndrome (FXS) is a genetic condition known to increase the risk of cognitive impairment and socio-emotional challenges in affected males and females. To date, the vast majority of research on FXS has predominantly targeted males, who usually exhibit greater cognitive impairment compared to females. Due to their typically milder phenotype, females may have more potential to attain a higher level of independence and quality of life than their male counterparts. However, the constellation of cognitive, behavioral, and, particularly, socio-emotional challenges present in many females with FXS often preclude them from achieving their full potential. It is, therefore, critical that more research specifically focuses on females with FXS to elucidate the role of genetic, environmental, and socio-emotional factors on outcome in this often-overlooked population.
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4. Cain MK, Kaboski JR, Gilger JW. {{Profiles and academic trajectories of cognitively gifted children with autism spectrum disorder}}. {Autism}. 2019: 1362361318804019.
Gifted children with autism spectrum disorder (ASD) are often referred to as twice-exceptional, the term that highlights the co-occurrence of exceptional challenges and exceptional giftedness. This study performed secondary data analysis on samples of twice-exceptional children from the Pre-Elementary Education Longitudinal Study and the Special Education Elementary Longitudinal Study datasets. The results provide a descriptive profile of twice-exceptional (e.g. demographics, average academic performance, and services utilized), trajectory plots that indicate how academic performance changes over time, and multilevel analyses that model growth in academic outcomes using demographics, school services, and giftedness as predictors. Some of the key findings are that twice-exceptional students show not only higher initial levels of academic performance, but they improve over time relative to the non-gifted ASD counterparts and-with the exception of Letter Word Matching-even relative to the general population. Moreover, they benefit from mental health services disproportionately. Together, the results offer a deeper understanding of the twice-exceptional autistic population, their academic performance over time, and the services that they utilize.
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5. Cividini-Motta C, Moore K, Fish LM, Priehs JC, Ahearn WH. {{Reducing Public Masturbation in Individuals With ASD: An Assessment of Response Interruption Procedures}}. {Behav Modif}. 2019: 145445518824277.
Individuals with autism may engage in sexual behavior at inappropriate times and/or in inappropriate places. The current study investigated the effects of response interruption and redirection (RIRD) and response interruption (RI) on public masturbation (PM) of children and adolescents with autism. Initial assessments showed that PM was maintained by automatic reinforcement. During the treatment evaluation phase, we compared RIRD and RI to determine whether either procedure was successful in decreasing the duration of PM. In the RIRD condition, contingent on the occurrence of any PM the participant completed physical activities involving both hands (e.g., moving chairs, touching toes). In the RI condition, the therapist interrupted all instances of PM using physical and verbal prompts (e.g., saying in a neutral tone, « Stop that » and moving hands away from genitals). Both procedures were effective in decreasing the duration of PM but RI required fewer resources and less time. Clinical implications and suggestions for future research are reviewed.
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6. Heathers J, Gilchrist KH, Hegarty-Craver M, Grego S, Goodwin MS. {{AN ANALYSIS OF STEREOTYPICAL MOTOR MOVEMENTS AND CARDIOVASCULAR COUPLING IN INDIVIDUALS ON THE AUTISM SPECTRUM}}. {Biological psychology}. 2019.
One of the core diagnostic features of autism spectrum disorder (ASD) is engagement in stereotypical motor movements, although the etiology of this repetitive behavior is unknown. Since the 1960s, it has been hypothesized that stereotypical motor movements serve a homeostatic regulation function, and thereby a putative coupling mechanism to cardiovascular arousal. However, to date, surprisingly few reports explicitly assess cardio-somatic coupling and stereotypical motor movements. The present exploratory study investigates coupling of stereotypical body rocking and hand flapping to heart rate and heart rate variability (HRV) in a convenience sample (n = 10) of children and young adults with moderate to profound ASD. Motor movements were recorded via video and three-axis accelerometry, and simultaneous electrocardiographic signals were obtained to determine cardiovascular indices at or around the onset of naturalistically occurring stereotypy. Analysis of the heart rate revealed both repetitive body rocking and hand flapping in particular were found to associate with a strikingly similar cardiovascular pattern of acceleration and deceleration unrelated to physical demands associated with the movements themselves. Furthermore, neither type of stereotypical movement provoked directional change in heart rate variability. The implications of these results and opportunities for future research are discussed.
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7. Malerba N, Towner S, Keating K, Squeo GM, Wilson W, Merla G. {{A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient}}. {Front Genet}. 2018; 9: 626.
Homozygous and compound heterozygous pathogenic variants in GNB5 have been recently associated with a spectrum of clinical presentations varying from a severe multisystem form of the disorder including intellectual disability, early infantile developmental and epileptic encephalopathy, retinal abnormalities and cardiac arrhythmias (IDDCA) to a milder form with language delay, attention-deficit/hyperactivity disorder, cognitive impairment, with or without cardiac arrhythmia (LADCI). Approximately twenty patients have been described so far; here we report a novel case of a 2.5-year-old female who is a compound heterozygote for a frameshift and a missense variant in the GNB5 gene. Her clinical presentation is consistent with a moderate phenotype, corroborating the direct correlation between the type and pathogenic mechanism of the GNB5 genetic variant and the severity of related phenotype.
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8. Niemczyk J, Fischer R, Wagner C, Burau A, Link T, von Gontard A. {{Detailed Assessment of Incontinence, Psychological Problems and Parental Stress in Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2019.
Incontinence, psychological symptoms, parental stress and psychopathology were examined in 51 children (43 boys, mean age = 9.7 years) presented in an outpatient clinic for autism spectrum disorders (ASD) and in 53 matched controls (43 boys, mean age = 10.2 years). All children were clinically assessed for ASD, incontinence and psychopathology according to current guidelines. ASD was confirmed in 37 children and excluded in 14. Enuresis (16.2%) and daytime urinary incontinence (16.2%), but not fecal incontinence (8.2%) were more common in ASD than in controls. Children with ASD showed significantly more comorbid psychiatric disorders. Parents of children with ASD experience more stress. Parental stress was predicted by parental psychopathology, role restriction and group (patient/control), but not by incontinence.
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9. Sapey-Triomphe LA, Lamberton F, Sonie S, Mattout J, Schmitz C. {{Tactile hypersensitivity and GABA concentration in the sensorimotor cortex of adults with autism}}. {Autism Res}. 2019.
Sensory hypersensitivity is frequently encountered in autism spectrum disorder (ASD). Gamma-aminobutyric acid (GABA) has been hypothesized to play a role in tactile hypersensitivity. The aim of the present study was twofold. First, as a study showed that children with ASD have decreased GABA concentrations in the sensorimotor cortex, we aimed at determining whether the GABA reduction remained in adults with ASD. For this purpose, we used magnetic resonance spectroscopy to measure GABA concentration in the sensorimotor cortex of neurotypical adults (n = 19) and ASD adults (n = 18). Second, we aimed at characterizing correlations between GABA concentration and tactile hypersensitivity in ASD. GABA concentration in the sensorimotor cortex of adults with ASD was lower than in neurotypical adults (decrease by 17%). Interestingly, GABA concentrations were positively correlated with self-reported tactile hypersensitivity in adults with ASD (r = 0.50, P = 0.01), but not in neurotypical adults. In addition, GABA concentrations were negatively correlated with the intra-individual variation during threshold measurement, both in neurotypical adults (r = -0.47, P = 0.04) and in adults with ASD (r = -0.59, P = 0.01). In other words, in both groups, the higher the GABA level, the more precise the tactile sensation. These results highlight the key role of GABA in tactile sensitivity, and suggest that atypical GABA modulation contributes to tactile hypersensitivity in ASD. We discuss the hypothesis that hypersensitivity in ASD could be due to suboptimal predictions about sensations. Autism Research 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: People with autism spectrum disorder (ASD) often experience tactile hypersensitivity. Here, our goal was to highlight a link between tactile hypersensitivity and the concentration of gamma-aminobutyric acid (GABA) (an inhibitory neurotransmitter) in the brain of adults with ASD. Indeed, self-reported hypersensitivity correlated with reduced GABA levels in brain areas processing touch. Our study suggests that this neurotransmitter may play a key role in tactile hypersensitivity in autism.
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10. Shakes P, Cashin A. {{Identifying Language for People on the Autism Spectrum: A Scoping Review}}. {Issues in mental health nursing}. 2019: 1-9.
Person-first language is considered a central component to recovery oriented person-centred care; however, there is a growing adoption of identify-first language among autistic advocates. Mental health nurses require awareness of critical autism issues given the high prevalence of comorbid psychopathology. This scoping review of literature from 2010 to 2018 regarding identifying language for people on the autism spectrum identified a paucity of research that systematically explored and considered antagonisms, representation, and potential consequences of either of the current modes of identifying language becoming dominant. Mental health nurses should appreciate the complexity within identifying language and adopt context dependent language.
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11. Smith IM, Flanagan HE, Ungar WJ, D’Entremont B, Garon N, den Otter J, Waddell C, Bryson SE, Tsiplova K, Leger N, Vezina F, Murray P. {{Comparing the 1-year impact of preschool autism intervention programs in two Canadian provinces}}. {Autism Res}. 2019.
Autism spectrum disorder (ASD) is associated with early differences in children’s social interactions, communication, and play/interests. In many countries, considerable resources are invested in early intensive behavioral intervention (EIBI) programs for children with ASD, which aim to build adaptive skills and prevent or treat problem behavior. However, these programs vary widely in structure and delivery. Research evidence supports the efficacy of EIBI, but large knowledge gaps remain about the effectiveness of publicly funded EIBI programs. With policy-makers as formal research partners, we compared children’s progress over 1 year in public preschool programs in adjacent Canadian provinces, New Brunswick (NB) and Nova Scotia (NS). In NB, children received up to 20 hr/week of comprehensive EIBI in a publicly funded, privately provided program. In NS, children received up to 15 hr/week of Pivotal Response Treatment and Positive Behavior Support delivered through the publicly funded healthcare system. In this observational parallel cohort study, we collected parent-reported data on 298 NB preschoolers (76.5% boys) and 221 NS preschoolers (86.9% boys) at EIBI start and 1 year later. Multilevel analysis revealed significant differences at baseline: NS children were older, with lower adaptive functioning and more severe ASD symptoms than NB children. Despite these pre-treatment differences that favor NB, children in both provinces showed similar adaptive functioning gains and reductions of maladaptive behavior. No changes were seen in mean ASD symptom severity in either province over time. Results highlight the value of evaluating interventions in their implementation contexts, and have important implications for devising optimal ASD policy. Autism Research 2019. (c) 2019 International Society for Autism Research,Wiley Periodicals, Inc. LAY SUMMARY: We need to know more about the impact of different forms of early intensive behavioral intervention (EIBI) for young children with autism spectrum disorder (ASD). We showed that preschoolers with ASD gained important skills while in public EIBI programs in two Canadian provinces. We also saw that differences in how EIBI programs are structured and characteristics of children who are served may affect outcomes. For these reasons, policy making requires evidence that fits the local context.
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12. Vincent J. {{It’s the fear of the unknown: Transition from higher education for young autistic adults}}. {Autism}. 2019: 1362361318822498.
More young people with a diagnosis of autism are enrolling and successfully completing higher education courses than ever before and this is set to increase; however, while there is a burgeoning body of literature surrounding the transition into this stage of education, there is a paucity of research that investigates the transition as this population exit higher education. This exploratory qualitative study is one of the first to identify the specific experiences of young autistic adults making this transition, drawing on semi-structured interviews with 21 students and recent graduates. Findings indicate that transition out of higher education is challenging on both practical and psychological levels, manifested by feelings of anxiety and loss. However, there is also evidence that the same phenomenon can also be understood as a positive departure with important implications for identity development. Findings are discussed in relation to future research and implications for practice in higher education institutions.
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13. Zhou N, Wong HM, McGrath C. {{Effectiveness of a visual-verbal integration model in training parents and their preschool children with intellectual and developmental disabilities to dispense a pea-sized amount of fluoridated toothpaste}}. {J Appl Res Intellect Disabil}. 2019.
BACKGROUND: A visual-verbal integration model (VVIM) was used to train parents and their children with intellectual and developmental disabilities (IDD) to dispense a pea-sized amount of fluoridated toothpaste, aiming to balance the occurrence of dental caries and fluorosis. METHOD: Participants were 370 pairs of IDD preschool children and their parents. A two-phase pre-post-intervention study was performed. The weight of toothpaste was calculated by a portable electronic compact balance. RESULTS: A quarter of parents and <20% children dispensed the appropriate amount at baseline. Almost 85% parents and 50% children achieved the pea-sized amount after intervention. Half of the children continued to use the recommended toothpaste amount after 6 months. Children with higher intellectual functioning and conceptual skills were more likely to dispense the pea-sized amount of toothpaste. CONCLUSIONS: Visual-verbal integration model training had a desired impact on parents' toothpaste-dispensing performance. Children with higher adaptive skills may benefit from VVIM training. Lien vers le texte intégral (Open Access ou abonnement)
