1. Asada K, Tojo Y, Hakarino K, Saito A, Hasegawa T, Kumagaya S. {{Brief Report: Body Image in Autism: Evidence from Body Size Estimation}}. {J Autism Dev Disord}. 2017.
Individuals with autism spectrum disorder (ASD) have difficulties with social interaction and communication. First-hand accounts written by individuals with ASD have shown the existence of other atypical characteristics such as difficulties with body awareness. However, few studies have examined whether such atypicalities are found more generally among individuals with ASD. We examined body image (i.e., self-body awareness) by asking individuals with ASD and typically developing (TD) individuals to estimate their own body size (shoulder width). Results show that TD individuals estimated their shoulder width more accurately than individuals with ASD. This study suggests that individuals with ASD often experience misperceptions in their body size.
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2. Cho H, Kim CH, Knight EQ, Oh HW, Park B, Kim DG, Park HJ. {{Changes in brain metabolic connectivity underlie autistic-like social deficits in a rat model of autism spectrum disorder}}. {Sci Rep}. 2017; 7(1): 13213.
The neurobiological basis of social dysfunction and the high male prevalence in autism spectrum disorder (ASD) remain poorly understood. Although network alterations presumably underlie the development of autistic-like behaviors, a clear pattern of connectivity differences specific to ASD has not yet emerged. Because the heterogeneous nature of ASD hinders investigations in human subjects, we explored brain connectivity in an etiologically homogenous rat model of ASD induced by exposure to valproic acid (VPA) in utero. We performed partial correlation analysis of cross-sectional resting-state 18F-fluorodeoxyglucose positron emission tomography scans from VPA-exposed and control rats to estimate metabolic connectivity and conducted canonical correlation analysis of metabolic activity and behavior scores. VPA-treated rats exhibited impairments in social behaviors, and this difference was more pronounced in male than female rats. Similarly, current analyses revealed sex-specific changes in network connectivity and identified distinct alterations in the distributed metabolic activity patterns associated with autistic-like social deficits. Specifically, diminished activity in the salience network and enhanced activity in a cortico-cerebellar circuit correlated with the severity of social behavioral deficits. Such metabolic connectivity features may represent neurobiological substrates of autistic-like behavior, particularly in males, and may serve as a pathognomonic sign in the VPA rat model of ASD.
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3. Nomura T, Musial TF, Marshall JJ, Zhu Y, Remmers CL, Xu J, Nicholson DA, Contractor A. {{Delayed Maturation of Fast-Spiking Interneurons Is Rectified by Activation of the TrkB Receptor in the Mouse Model of Fragile X Syndrome}}. {J Neurosci}. 2017; 37(47): 11298-310.
Fragile X syndrome (FXS) is a neurodevelopmental disorder that is a leading cause of inherited intellectual disability, and the most common known cause of autism spectrum disorder. FXS is broadly characterized by sensory hypersensitivity and several developmental alterations in synaptic and circuit function have been uncovered in the sensory cortex of the mouse model of FXS (Fmr1 KO). GABA-mediated neurotransmission and fast-spiking (FS) GABAergic interneurons are central to cortical circuit development in the neonate. Here we demonstrate that there is a delay in the maturation of the intrinsic properties of FS interneurons in the sensory cortex, and a deficit in the formation of excitatory synaptic inputs on to these neurons in neonatal Fmr1 KO mice. Both these delays in neuronal and synaptic maturation were rectified by chronic administration of a TrkB receptor agonist. These results demonstrate that the maturation of the GABAergic circuit in the sensory cortex is altered during a critical developmental period due in part to a perturbation in BDNF-TrkB signaling, and could contribute to the alterations in cortical development underlying the sensory pathophysiology of FXS.SIGNIFICANCE STATEMENT Fragile X (FXS) individuals have a range of sensory related phenotypes, and there is growing evidence of alterations in neuronal circuits in the sensory cortex of the mouse model of FXS (Fmr1 KO). GABAergic interneurons are central to the correct formation of circuits during cortical critical periods. Here we demonstrate a delay in the maturation of the properties and synaptic connectivity of interneurons in Fmr1 KO mice during a critical period of cortical development. The delays both in cellular and synaptic maturation were rectified by administration of a TrkB receptor agonist, suggesting reduced BDNF-TrkB signaling as a contributing factor. These results provide evidence that the function of fast-spiking interneurons is disrupted due to a deficiency in neurotrophin signaling during early development in FXS.
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4. Payakachat N, Tilford JM, Kuhlthau KA. {{Parent-Reported Use of Interventions by Toddlers and Preschoolers With Autism Spectrum Disorder}}. {Psychiatr Serv}. 2017: appips201600524.
OBJECTIVE: This study examined services used by young children with autism spectrum disorder (ASD) and factors associated with use. METHODS: A retrospective observational study was conducted with baseline data for toddlers (under age three) and preschoolers (three to less than six years) with ASD enrolled in the Autism Speaks Autism Treatment Network registry from 2008 to 2013 (N=2,804). Parents’ reports at enrollment of services received by children were documented. Factors associated with service use and with hours per week of services used were identified by multiple regression analyses. RESULTS: At baseline, 79% of children had received at least one service; 28% had received behavioral services. In the sample, less than 30% of children who received at least one service spent more than ten hours per week in any service use. Children who received services were more likely to be of white race and to have had an ASD diagnosis prior to registry enrollment. Age, previous ASD diagnosis, maternal education, and child’s IQ were significantly associated with the use of behavioral services; IQ was negatively associated with use. A consistent trend toward greater use of behavioral services was found over the study period. Factors associated with hours of any services used per week included age, gender, race, maternal education, and clinical characteristics. The predicted average weekly service hours for children with ASD across registry sites ranged from 3.1+/-1.0 to 9.5+/-2.1. CONCLUSIONS: Service use varied according to child, family, and system characteristics. More efforts should be focused on early intervention and on children with ASD who have low socioeconomic status and cognitive disability.
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5. Pisula E, Porebowicz-Dorsmann A. {{Family functioning, parenting stress and quality of life in mothers and fathers of Polish children with high functioning autism or Asperger syndrome}}. {PLoS One}. 2017; 12(10): e0186536.
The aim of the study was to investigate the perception of the family functioning in parents of children with autism spectrum disorders (ASD) with normal-range intelligence and the relationships between family functioning, parenting stress and quality of life. Dyads of parents of children with ASD without intellectual disability and parents of typically developing children (controls) completed a set of self-report questionnaires. Parents of children with ASD reported lower functioning of the family as a whole and their own functioning as family members; they exhibited higher levels of parenting stress and lower quality of life. Mothers of children with ASD experienced more stress in personal domain than fathers. Relationships between family functioning, parenting stress and quality of life have been established. There were also moderate to strong correlations in mother-father dyads between their assessments of family functioning, parenting stress and QoL in social relationships and environmental domains.
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6. Song Y, Jia Z, Liu S, Liang D. {{Discourse production of mandarin-speaking children with high-functioning autism: The effect of mental and action verbs’ semantic-pragmatic features}}. {J Commun Disord}. 2017; 70: 12-24.
The present study investigated the syntactic and pragmatic performance of children with high-functioning autism (HFA) during a discourse production task with mental verbs. Children with HFA and typically developing (TD) children were matched by chronological age, verbal IQ (VIQ) and full-scale IQ (FIQ). We found that children with HFA tended to select a nominal object given a mental verb with either a nominal or clausal object. They committed few syntactic errors but generated syntactic stereotypes with mental verbs. However, this behavior was not observed with action verbs. Thus, children with HFA were specifically impaired in the argument structures of mental verbs. In pragmatic performance, children with HFA produced significantly fewer clauses or sentences with lower syntactic complexity for mental verbs than TD controls. This result might be due to the semantic-pragmatic impairment of children with HFA in the use of mental verbs. This study concludes that children with HFA were able to acquire the syntactic frames of mental verbs but were nevertheless impaired in the acquisition of pragmatic information inherent in those verbs.
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7. Wang J, Gong J, Li L, Chen Y, Liu L, Gu H, Luo X, Hou F, Zhang J, Song R. {{Neurexin gene family variants as risk factors for autism spectrum disorder}}. {Autism Res}. 2017.
Increasing evidence suggests that abnormal synaptic function leads to neuronal developmental disorders and is an important component of the etiology of autism spectrum disorder (ASD). Neurexins are presynaptic cell-adhesion molecules that affect the function of synapses and mediate the conduction of nerve signals. Thus, neurexins are attractive candidate genes for autism. Since gene families have greater power to reveal genetic association than single genes, we designed this case-control study to investigate six genetic variants in three neurexin genes (NRXN1, NRXN2, and NRXN3) in a Chinese population including 529 ASD patients and 1,923 healthy controls. We found that two SNPs were significantly associated with ASD after false discovery rate (FDR) adjustment for multiple comparisons. The NRXN2 rs12273892 polymorphism T allele and AT genotype were significantly associated with increased risk of ASD (respectively: OR = 1.328, 95% CI = 1.133-1.557, P < 0.001; OR = 1.528; 95% CI = 1.249-1.868, P < 0.001). The dominant model showed the same association (OR = 1.495, 95% CI = 1.231-1.816, P < 0.001). The NRXN3 rs12879016 polymorphism played a significant role in ASD susceptibility under the dominant model (OR = 0.747, 95% CI= 0.615-0.908, P = 0.023), with the same trend detected for the G allele and GT genotype (respectively: OR = 0.811, 95% CI = 0.699-0.941, P = 0.036; OR = 0.755, 95% CI = 0.615-0.928, P = 0.035). In conclusion, this study supports the importance of two genetic variants in the neurexin gene family in ASD susceptibility in China. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is highly heritable, and studies have found a number of candidate genes that might contribute to ASD. Neurexins are presynaptic cell-adhesion molecules that affect the function of synapses and mediate the conduction of nerve signals, and they play an important role in normal brain development and become candidate genes for autism. The purpose of our study is to explore the association between variants of the neurexins gene family and ASD in a Chinese population through a case-control study. Lien vers le texte intégral (Open Access ou abonnement)
8. Weckstein SM, Weckstein EJ, Parker CD, Westerman MW. {{A Retrospective Chart Analysis with Follow-Up of Cogmed Working Memory Training in Children and Adolescents with Autism Spectrum Disorder}}. {Med Sci Monit Basic Res}. 2017; 23: 336-43.
BACKGROUND This case study was undertaken in an effort to assess whether children/adolescents with Autism Spectrum Disorder (ASD) experience improvement in comorbid ADHD following Cogmed Working Memory Training (CWMT). This treatment intervention has been shown to improve ADHD symptoms in children and adolescents; however, there have been no studies on its use with individuals with ASD. MATERIAL AND METHODS CWMT is a computer-based program that consists of 13 auditory, visual, visual spatial, and combined exercises that are practiced for 45 minutes a day, 5 days a week, for 5 weeks. Fifteen children/adolescents between the ages of 9 and 19 years with ASD and comorbid ADHD undertook a trial of CWMT. A 1-month follow-up and 2 longitudinal follow-ups were implemented. RESULTS The retrospective chart analysis and follow-up demonstrated improvement in attention and focus, impulsivity, emotional reactivity, and academic achievement in individuals with ASD and comorbid ADHD. Those benefits remained the same or increased over time. A number of participants also had benefits in their social interaction/social awareness. CONCLUSIONS CWMT has the potential to be an effective treatment intervention for children and adolescents with ASD because of its benign computer-based nature that seems to engage the unique learning style of this population. The authors hope that this paper will encourage others to study the ability of CWMT to be utilized in improving ADHD symptoms as well as social interaction/social awareness in individuals with ASD.
