1. Burket JA, Young CM, Green TL, Benson AD, Deutsch SI. {{Characterization of gait and olfactory behaviors in the Balb/c mouse model of autism spectrum disorders}}. {Brain Res Bull};2016 (Feb 23);122:29-34.
Abnormalities of gait and olfaction have been reported in persons with autism spectrum disorders (ASDs), which could reflect involvement of the cerebellum and nodes related to olfaction (e.g., olfactory bulb and ventral temporal olfactory cortex) in neural circuits subserving social, cognitive, and motor domains of psychopathology in these disorders. We hypothesized that the Balb/c mouse model of ASD would express « abnormalities » of gait and olfaction, relative to the Swiss Webster comparator strain. Contrary to expectation, Balb/c and Swiss Webster mice did not differ in terms of quantitative measurements of gait and mouse rotarod behavior, and Balb/c mice displayed a shorter latency to approach an unscented cotton swab, suggesting that there was no disturbance of its locomotor behavior. However, Balb/c mice showed significant inhibition of locomotor activity in the presence of floral scents, including novel and familiar floral scents, and a socially salient odor (i.e., concentrated mouse urine); the inhibitory effect on the locomotor behavior of the Balb/c mouse was especially pronounced with the salient social odor. Unlike the Swiss Webster strain, mouse urine lacks social salience for the Balb/c mouse strain, a model of ASD, which does not appear to be an artifact of diminished olfactory sensitivity or impaired locomotion.
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2. Curtin C, Must A, Phillips S, Bandini L. {{The healthy weight research network: a research agenda to promote healthy weight among youth with autism spectrum disorder and other developmental disabilities}}. {Pediatr Obes};2016 (Feb 24)
The Healthy Weight Research Network (HWRN) for children with autism and developmental disabilities is an interdisciplinary network with national representation. This paper discusses the modified Delphi procedure that was used to develop the HWRN’s research agenda to address the problem of obesity in children with autism and developmental disabilities. The five research areas identified for priority included: (i) family practices around food/mealtimes; (ii) physical activity and sedentary behaviours in relation to weight; (iii) relationship between food patterns, behaviour and weight gain; (iv) programme-adaption and delivery; and (v) influence of school and community-based organizations on food intake and physical activity. The goals and agenda of the HWRN hold promise for making progress toward the prevention and successful treatment of obesity in this population.
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3. DiGuiseppi CG, Daniels JL, Fallin DM, Rosenberg SA, Schieve LA, Thomas KC, Windham GC, Goss CW, Soke GN, Currie DW, Singer AB, Lee LC, Bernal P, Croen LA, Miller LA, Pinto-Martin JA, Young LM, Schendel DE. {{Demographic profile of families and children in the Study to Explore Early Development (SEED): Case-control study of autism spectrum disorder}}. {Disabil Health J};2016 (Jan 29)
BACKGROUND: The Study to Explore Early Development (SEED) is designed to enhance knowledge of autism spectrum disorder characteristics and etiologies. OBJECTIVE: This paper describes the demographic profile of enrolled families and examines sociodemographic differences between children with autism spectrum disorder and children with other developmental problems or who are typically developing. METHODS: This multi-site case-control study used health, education, and birth certificate records to identify and enroll children aged 2-5 years into one of three groups: 1) cases (children with autism spectrum disorder), 2) developmental delay or disorder controls, or 3) general population controls. Study group classification was based on sampling source, prior diagnoses, and study screening tests and developmental evaluations. The child’s primary caregiver provided demographic characteristics through a telephone (or occasionally face-to-face) interview. Groups were compared using ANOVA, chi-squared test, or multinomial logistic regression as appropriate. RESULTS: Of 2768 study children, sizeable proportions were born to mothers of non-White race (31.7%), Hispanic ethnicity (11.4%), and foreign birth (17.6%); 33.0% of households had incomes below the US median. The autism spectrum disorder and population control groups differed significantly on nearly all sociodemographic parameters. In contrast, the autism spectrum disorder and developmental delay or disorder groups had generally similar sociodemographic characteristics. CONCLUSIONS: SEED enrolled a sociodemographically diverse sample, which will allow further, in-depth exploration of sociodemographic differences between study groups and provide novel opportunities to explore sociodemographic influences on etiologic risk factor associations with autism spectrum disorder and phenotypic subtypes.
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4. Hashemi E, Ariza J, Rogers H, Noctor SC, Martinez-Cerdeno V. {{The Number of Parvalbumin-Expressing Interneurons Is Decreased in the Medial Prefrontal Cortex in Autism}}. {Cereb Cortex};2016 (Feb 27)
The cognitive phenotype of autism has been correlated with an altered balance of excitation to inhibition in the cerebral cortex, which could result from a change in the number, function, or morphology of GABA-expressing interneurons. The number of GABAergic interneuron subtypes has not been quantified in the autistic cerebral cortex. We classified interneurons into 3 subpopulations based on expression of the calcium-binding proteins parvalbumin, calbindin, or calretinin. We quantified the number of each interneuron subtype in postmortem neocortical tissue from 11 autistic cases and 10 control cases. Prefrontal Brodmann Areas (BA) BA46, BA47, and BA9 in autism and age-matched controls were analyzed by blinded researchers. We show that the number of parvalbumin+ interneurons in these 3 cortical areas-BA46, BA47, and BA9-is significantly reduced in autism compared with controls. The number of calbindin+ and calretinin+ interneurons did not differ in the cortical areas examined. Parvalbumin+ interneurons are fast-spiking cells that synchronize the activity of pyramidal cells through perisomatic and axo-axonic inhibition. The reduced number of parvalbumin+ interneurons could disrupt the balance of excitation/inhibition and alter gamma wave oscillations in the cerebral cortex of autistic subjects. These data will allow development of novel treatments specifically targeting parvalbumin interneurons.
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5. Hidding E, Swaab H, de Sonneville LM, van Engeland H, Vorstman JA. {{The role of COMT and plasma proline in the variable penetrance of autistic spectrum symptoms in 22q11.2 Deletion Syndrome}}. {Clin Genet};2016 (Feb 26)
This paper examines how COMT158 genotypes and plasma proline levels are associated with variable penetrance of social behavioural and social-cognitive problems in 22q11.2 deletion syndrome (22q11DS). Severity of autistic spectrum symptoms of 45 participants with 22q11DS was assessed using the Autism Diagnostic Interview Revised. Face and facial emotion recognition was evaluated using standardized computer-based test-paradigms. Associations with COMT158 genotypes and proline levels were examined. High proline levels and poor face recognition in individuals with the COMTMET allele, and poor facial emotion recognition, explained almost 50% of the variance in severity of autism symptomatology in individuals with 22q11DS. High proline levels and a decreased capacity to break down dopamine as a result of the COMTMET variant are both relevant in the expression of the social phenotype in patients. This epistatic interaction effect between the COMT158 genotype and proline on the expression of social deficits in 22q11DS demonstrates how factors other than the direct effects of the deletion itself can modulate the penetrance of associated cognitive and behavioural outcomes. These findings are not only relevant to our insight into 22q11DS, but also provide a model to better understand the phenomenon of variable penetrance in other pathogenic genetic variants.
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6. Ingersoll B, Wainer AL, Berger NI, Pickard KE, Bonter N. {{Comparison of a Self-Directed and Therapist-Assisted Telehealth Parent-Mediated Intervention for Children with ASD: A Pilot RCT}}. {J Autism Dev Disord};2016 (Feb 27)
This pilot RCT compared the effect of a self-directed and therapist-assisted telehealth-based parent-mediated intervention for young children with ASD. Families were randomly assigned to a self-directed or therapist-assisted program. Parents in both groups improved their intervention fidelity, self-efficacy, stress, and positive perceptions of their child; however, the therapist-assisted group had greater gains in parent fidelity and positive perceptions of child. Children in both groups improved on language measures, with a trend towards greater gains during a parent-child interaction for the therapist-assisted group. Only the children in the therapist-assisted group improved in social skills. Both models show promise for delivering parent-mediated intervention; however, therapist assistance provided an added benefit for some outcomes. A full-scale comparative efficacy trial is warranted.
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7. Johnston M, Blue ME, Naidu S. {{Recent advances in understanding synaptic abnormalities in Rett syndrome}}. {F1000Res};2015;4
Rett syndrome is an extremely disabling X-linked nervous system disorder that mainly affects girls in early childhood and causes autism-like behavior, severe intellectual disability, seizures, sleep disturbances, autonomic instability, and other disorders due to mutations in the MeCP2 (methyl CpG-binding protein 2) transcription factor. The disorder targets synapses and synaptic plasticity and has been shown to disrupt the balance between glutamate excitatory synapses and GABAergic inhibitory synapses. In fact, it can be argued that Rett syndrome is primarily a disorder of synaptic plasticity and that agents that can correct this imbalance may have beneficial effects on brain development. This review briefly summarizes the link between disrupted synaptic plasticity mechanisms and Rett syndrome and early clinical trials that aim to target these abnormalities to improve the outcome for these severely disabled children.
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8. Miller HL, Bugnariu NL. {{Level of Immersion in Virtual Environments Impacts the Ability to Assess and Teach Social Skills in Autism Spectrum Disorder}}. {Cyberpsychol Behav Soc Netw};2016 (Feb 26)
Virtual environments (VEs) may be useful for delivering social skills interventions to individuals with autism spectrum disorder (ASD). Immersive VEs provide opportunities for individuals with ASD to learn and practice skills in a controlled replicable setting. However, not all VEs are delivered using the same technology, and the level of immersion differs across settings. We group studies into low-, moderate-, and high-immersion categories by examining five aspects of immersion. In doing so, we draw conclusions regarding the influence of this technical manipulation on the efficacy of VEs as a tool for assessing and teaching social skills. We also highlight ways in which future studies can advance our understanding of how manipulating aspects of immersion may impact intervention success.
