1. Casartelli L, Chiamulera C. {{The motor way: Clinical implications of understanding and shaping actions with the motor system in autism and drug addiction}}. {Cognitive, affective & behavioral neuroscience}. 2015 Dec 17.
To understand others’ minds is crucial for survival; however, it is quite puzzling how access to others’ minds can be-to some extent-direct and not necessarily mediated by conceptual reasoning. Recent advances in neuroscience have led to hypothesize a role for motor circuits not only in controlling the elementary physical features of movement (e.g., force, direction, and amplitude), but also in understanding and shaping human behavior. The concept of « motor cognition » refers to these aspects, and neurophysiological, neuroimaging, and behavioral studies in human and nonhuman primates support this view. From a clinical perspective, motor cognition represents a challenge in several domains. A thorough investigation of the neural mechanisms mediating motor action/intention understanding and automatized/compulsive behaviors seems to be a promising way to tackle a range of neurodevelopmental and drug-related disorders. On the one hand, anomalies in motor cognition may have cascade effects on social functioning in individuals with autism spectrum disorder (ASD); on the other, motor cognition may help explain the pathophysiology of drug-seeking and drug-taking behaviors in the most severe phase of drug addiction (i.e., see drug dependence, motor low-order cue reactivity). This may represent a promising approach that could improve the efficacy of rehabilitative interventions. The only way to shed light on multifactorial disorders such as ASD and drug addiction is through the investigation of their multiple factors. This motor way can promote new theoretical and experimental perspectives that would help bridge the gap between the basic neuroscience approach and clinical practice.
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2. Chawarska K, Ye S, Shic F, Chen L. {{Multilevel Differences in Spontaneous Social Attention in Toddlers With Autism Spectrum Disorder}}. {Child development}. 2015 Dec 19.
This study examined the latent structure of spontaneous social attention in 11- to 26-month-olds with autism spectrum disorder (ASD, n = 90) and typically developing (n = 79) controls. Application of the joint and individual variance explained decomposition technique revealed that attention was driven by a condition-independent tuning into the dynamic social scenes construct and context-specific constructs capturing selection of the most relevant social features for processing. Gaze behavior in ASD is characterized by a limited tuning into the social scenes and by a selection of atypical targets for processing. While the former may be due to early disruption of the reward circuitry leading to limited appreciation of the behavioral relevance of social information, the latter may represent secondary deficits reflecting limited knowledge about social partners.
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3. Downs J, Torode I, Wong K, Ellaway C, Elliott EJ, Christodoulou J, Jacoby P, Thomson MR, Izatt MT, Askin GN, McPhee BI, Bridge C, Cundy P, Leonard H. {{The Natural History of Scoliosis in Females with Rett Syndrome}}. {Spine}. 2015 Dec 14.
STUDY DESIGN: Population-based longitudinal observational study. OBJECTIVES: To describe the prevalence of scoliosis in Rett syndrome, structural characteristics and progression, taking into account the influences of age, genotype and ambulatory status. SUMMARY OF BACKGROUND DATA: Scoliosis is the most common orthopaedic comorbidity in Rett syndrome yet very little is known about its natural history and influencing factors such as age, genotype and ambulatory status. METHODS: The infrastructure of the Australian Rett Syndrome Database was used to identify all cases with confirmed Rett syndrome in Australia and collect data on genotype and walking status. We identified radiological records and described the Cobb angle of each curve. Time to event analysis was used to estimate the median age of onset of scoliosis and the log rank test to compare by mutation type. Latent class group analysis was used to identify groups for the trajectory of walking status over time and a multilevel linear model used to assess trajectories of scoliosis development by mutation type and walking status. We used a logistic regression model to estimate the probability of developing a scoliosis with a Cobb angle >60 degrees at 16 years in relation to Cobb angle and walking status at 10 years of age. RESULTS: The median age of scoliosis onset was 11 years with earliest onset in those with a p.Arg255 mutation or large deletion. Scoliosis was progressive for all mutation types except for those with the p.Arg306Cys mutation. Scoliosis progression was reduced when there was capacity to walk independently or with assistance. Cobb angle and walking ability at age 10 can be reliably used to identify those who will develop a very severe scoliosis by age 16. CONCLUSIONS: These data on prognosis of scoliosis inform clinical decision-making about the likelihood of progression to very severe scoliosis and the need for surgical management. LEVEL OF EVIDENCE: 4.
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4. Jacob J. {{Cortical interneuron dysfunction in epilepsy associated with autism spectrum disorders}}. {Epilepsia}. 2015 Dec 19.
Autism and epilepsy are two associated disorders that are highly prevalent, share common developmental origins, and demonstrate substantial heritability. In this review, cross-disciplinary data in a rapidly evolving field that bridges neurology and psychiatry are synthesized to identify shared biologic mechanisms. The relationship between these debilitating, lifelong conditions is examined at the clinical, genetic, and neurophysiologic levels in humans and in animal models. Scopus and PubMed searches were used to identify relevant literature. Clinical observations have prompted speculation about the interdependence of autism and epilepsy, but causal relationships have proved difficult to determine. Despite their heritability, the genetic basis of autism spectrum disorder (ASD) and epilepsy has remained largely elusive until the advent of next-generation sequencing. This approach has revealed that mutations that are either causal or confer an increased disease risk are found in numerous different genes, any one of which accounts for only a small percentage of cases. Conversely, even cases with identical clinical phenotypes can be genetically heterogeneous. Candidate gene identification has facilitated the development of mouse genetic models, which in parallel with human studies have implicated shared brain regions and circuits that mediate disease expression. Diverse genetic causes of ASD and epilepsy converge on cortical interneuron circuits as one important mediator of both disorders. Cortical interneurons are among the most diverse cell types in the brain and their unique chemical and electrical coupling exert a powerful inhibitory influence on excitatory neurons via the release of the neurotransmitter, gamma-aminobutyric acid (GABA). These multifaceted approaches have validated theories derived from the field of developmental neurobiology, which propose that the neurologic and neuropsychiatric manifestations are caused by an altered ratio of excitation to inhibition in the cortex.
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5. Klapwijk ET, Aghajani M, Colins OF, Marijnissen GM, Popma A, van Lang ND, van der Wee NJ, Vermeiren RR. {{Different brain responses during empathy in autism spectrum disorders versus conduct disorder and callous-unemotional traits}}. {Journal of child psychology and psychiatry, and allied disciplines}. 2015 Dec 17.
BACKGROUND: Deficits in empathy are reported in autism spectrum disorders (ASD) and also underlie antisocial behavior of individuals with conduct disorder and callous-unemotional traits (CD/CU+). Many studies suggest that individuals with ASD are typically impaired in cognitive aspects of empathy, and individuals with CD/CU+ typically in affective aspects. In the current study, we compared the neural correlates of cognitive and affective aspects of empathy between youth with ASD and youth with CD/CU+. METHODS: Functional magnetic resonance imaging (fMRI) was used to assess boys with ASD (N = 23), boys with CD/CU+ (N = 23), and typically developing (TD) boys (N = 33), aged 15-19 years. Angry and fearful faces were presented and participants were asked to either infer the emotional state from the face (other-task; emotion recognition) or to judge their own emotional response to the face (self-task; emotional resonance). RESULTS: During emotion recognition, boys with ASD showed reduced responses compared to the other groups in the ventromedial prefrontal cortex (vmPFC). During emotional resonance, the CD/CU+ and ASD groups showed reduced amygdala responses compared to the TD controls, boys with ASD showed reduced responses in bilateral hippocampus, and the CD/CU+ boys showed reduced responses in the inferior frontal gyrus (IFG) and anterior insula (AI). CONCLUSION: Results suggest differential abnormal brain responses associated with specific aspects of empathic functioning in ASD and CD/CU+. Decreased amygdala responses in ASD and CD/CU+ might point to impaired emotion processing in both disorders, whereas reduced vmPFC responses suggest problems in processing cognitive aspects of empathy in ASD. Reduced IFG/AI responses, finally, suggest decreased emotional resonance in CD/CU+.
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6. McKenzie K, Ouellette-Kuntz H, Martin L. {{Using an accumulation of deficits approach to measure frailty in a population of home care users with intellectual and developmental disabilities: an analytical descriptive study}}. {BMC geriatrics}. 2015;15:170.
BACKGROUND: The aging population of adults with intellectual and developmental disabilities (IDD) is growing. In the general aging population, frailty is commonly used to predict adverse health outcomes, including hospital use, death, and admission to long-term care. However, existing frailty measures are less appropriate for aging persons with IDD, given their pre-existing conditions and limitations. An accumulation of deficits approach, which is now widely used to describe frailty in the general population, may be more suitable for persons with IDD. Frailty measures specific to persons with IDD have not been widely studied. METHODS: Using pre-determined criteria, a frailty index (FI) specific to persons with IDD was developed based on items in the Resident Assessment Instrument – Home Care (RAI-HC), and using the assessments of 7,863 individuals with IDD in Ontario (aged 18-99 years) admitted to home care between April 1(st), 2006 and March 31(st), 2014. FI scores were derived by dividing deficits present by deficits measured, and categorized into meaningful strata using stratum-specific likelihood ratios. A multinomial logistic regression model identified associations between frailty and individual characteristics. RESULTS: The resulting FI is comprised of 42 deficits across five domains (physiological, psychological, cognitive, social and service use). The mean FI score was 0.22 (SD = 0.13), equivalent to 9 deficits. Over half of the cohort was non-frail (FI score < 0.21), while the remaining were either pre-frail (21 %, FI score between 0.21 and 0.30) or frail (27 %, FI score > 0.30). Controlling for individual characteristics, women were more likely to be frail compared to men (OR = 1.39, 95 % CI: 1.23-1.56). Individuals who were frail were significantly more likely to have a caregiver who was unable to continuing caring (OR = 1.86, 95 % CI: 1.55-2.22) or feeling distressed (OR = 1.54, 95 % CI: 1.30-1.83). Living with a family members was significantly protective of frailty (OR = 0.35, 95 % CI: 0.29-0.41), compared to living alone. CONCLUSIONS: Using the FI to identify frailty in adults with IDD is feasible and can be incorporated into existing home care assessments. This could offer case managers assistance in identifying at-risk individuals. Future analyses should evaluate this measure’s ability to predict future adverse outcomes.
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7. Rogers CL, Goddard L, Hill EL, Henry LA, Crane L. {{Experiences of diagnosing autism spectrum disorder: A survey of professionals in the United Kingdom}}. {Autism : the international journal of research and practice}. 2015 Dec 16.
To date, research exploring experiences of diagnosing autism spectrum disorder has largely focused on parental perspectives. In order to obtain a more complete account of the autism spectrum disorder diagnostic process, it is essential that the views and experiences of professionals are heard. In this study, 116 multidisciplinary professionals involved in diagnosing autism spectrum disorder in the United Kingdom completed an online questionnaire exploring their experiences and opinions of three key areas of service: accessibility, the diagnostic process and post-diagnostic support. Although professionals were largely satisfied with service accessibility, around 40% of services were failing to provide timely assessments. Standardised diagnostic tools were perceived as helpful and were used consistently, but concerns were raised about their validity in detecting atypical autism spectrum disorder presentations (e.g. females). Several challenges regarding giving autism spectrum disorder diagnoses were reported; these included making sure caregivers understood the diagnosis, pitching information at the correct level and managing distress. Furthermore, the practice of ‘upgrading’ to a diagnosis of autism spectrum disorder in uncertain or complex cases was reported by many, albeit infrequently, and reasons for this varied widely. Professionals expressed dissatisfaction with post-diagnostic provision, especially onward and long-term support options. They also felt that service improvements were required across populations and across the three key areas of service.
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8. Vajawat M, Deepika PC, Kumar V, Rajeshwari P. {{A clinicomicrobiological study to evaluate the efficacy of manual and powered toothbrushes among autistic patients}}. {Contemporary clinical dentistry}. 2015 Oct-Dec;6(4):500-4.
AIM: To compare the efficacy of powered toothbrushes in improving gingival health and reducing salivary red complex counts as compared to manual toothbrushes, among autistic individuals. MATERIALS AND METHODS: Forty autistics was selected. Test group received powered toothbrushes, and control group received manual toothbrushes. Plaque index and gingival index were recorded. Unstimulated saliva was collected for analysis of red complex organisms using polymerase chain reaction. RESULTS: A statistically significant reduction in the plaque scores was seen over a period of 12 weeks in both the groups (P < 0.001 for tests and P = 0.002 for controls). This reduction was statistically more significant in the test group (P = 0.024). A statistically significant reduction in the gingival scores was seen over a period of 12 weeks in both the groups (P < 0.001 for tests and P = 0.001 for controls). This reduction was statistically more significant in the test group (P = 0.042). No statistically significant reduction in the detection rate of red complex organisms were seen at 4 weeks in both the groups. CONCLUSION: Powered toothbrushes result in a significant overall improvement in gingival health when constant reinforcement of oral hygiene instructions is given. Lien vers le texte intégral (Open Access ou abonnement)
