1. {{[The identification and treatment of common comorbidity in children with autism spectrum disorder]}}. {Zhonghua er ke za zhi = Chinese journal of pediatrics}. 2018; 56(3): 174-8.
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2. Carlile KA, DeBar RM, Reeve SA, Reeve KF, Meyer LS. {{Teaching help-seeking when lost to individuals with autism spectrum disorder}}. {Journal of applied behavior analysis}. 2018.
Deficits in safety skills and communication deficits place individuals with autism spectrum disorder (ASD) at an increased risk of danger. We used a multiple-probe across-participants design to evaluate the effects of video modeling and programming common stimuli to teach low- and high-tech help-seeking responses to children with ASD when lost. Participants acquired answering or making a FaceTime(R) call and exchanging an identification card in contrived and natural settings. Responses generalized to novel community settings and maintained during a one- and two-week follow-up. Social validity measures showed that the procedures and outcomes of the study were acceptable to indirect and direct consumers, and immediate and extended community members. Implications are that children with ASD can effectively be taught both low- and high-tech help-seeking responses when lost.
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3. Hirofuji S, Hirofuji Y, Kato H, Masuda K, Yamaza H, Sato H, Takayama F, Torio M, Sakai Y, Ohga S, Taguchi T, Nonaka K. {{Mitochondrial dysfunction in dopaminergic neurons differentiated from exfoliated deciduous tooth-derived pulp stem cells of a child with Rett syndrome}}. {Biochemical and biophysical research communications}. 2018.
Rett syndrome is an X-linked neurodevelopmental disorder associated with psychomotor impairments, autonomic dysfunctions and autism. Patients with Rett syndrome have loss-of-function mutations in MECP2, the gene encoding methyl-CpG-binding protein 2 (MeCP2). Abnormal biogenic amine signaling and mitochondrial function have been found in patients with Rett syndrome; however, few studies have analyzed the association between these factors. This study investigated the functional relationships between mitochondria and the neuronal differentiation of the MeCP2-deficient stem cells from the exfoliated deciduous teeth of a child with Rett syndrome. An enrolled subject in this study was a 5-year-old girl carrying a large deletion that included the methyl-CpG-binding domain, transcriptional repression domain, and nuclear localization signal of MECP2. Using the single-cell isolation technique, we found that the two populations of MeCP2-expressing and MeCP2-deficient stem cells kept their MECP2 expression profiles throughout the stages of cell proliferation and neuronal differentiation in vivo. Neurite outgrowth and branching were attenuated in MeCP2-deficient dopaminergic neurons. MeCP2-deficient cells showed reduced mitochondrial membrane potential, ATP production, restricted mitochondrial distribution in neurites, and lower expression of a central mitochondrial fission factor, dynamin-related protein 1 than MeCP2-expressing cells. These data indicated that MeCP2-deficiency dysregulates the expression of mitochondrial factors required for the maturation of dopaminergic neurons. This study also provides insight into the pathogenic mechanism underlying dysfunction of the intracerebral dopaminergic signaling pathway in Rett syndrome.
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4. Hu CC, Xu X, Xiong GL, Xu Q, Zhou BR, Li CY, Qin Q, Liu CX, Li HP, Sun YJ, Yu X. {{Alterations in plasma cytokine levels in chinese children with autism spectrum disorder}}. {Autism Res}. 2018.
Genetic alterations, together with environmental risk factors during infancy and childhood, contribute significantly to the etiology of autism spectrum disorder (ASD), a heterogeneous neurodevelopmental condition characterized by impairments in social interaction and restricted, repetitive behaviors. Mounting evidence points to a critical contribution of immunological risk factors to the development of ASD. By affecting multiple neurodevelopmental processes, immune system dysfunction could act as a point of convergence between genetics and environmental factors in ASD. Previous studies have shown altered cytokine levels in individuals with ASD, but research in Asian populations are limited. Here, we measured the plasma levels of 11 candidate cytokines in ASD and typically developing (TD) children. The cohort included 41 TD children and 87 children with ASD, aged 1-6 years. We found that as compared to the TD group, children with ASD had higher plasma levels of Eotaxin, TGF-beta1 and TNF-alpha. The increase in TGF-beta1 level was most significant in males, while the increase in Eotaxin was most significant in females. Eotaxin level negatively correlated with the social affect score (SA) in ADOS, while TNF-alpha level positively correlated with total development quotient (DQ), measured using GMDS. These pilot findings suggest potentially important roles of Eotaxin, TGF-beta1 and TNF-alpha in ASD in the Chinese population. Autism Res 2018. (c)2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Alteration of immune system function is an important risk factor for autism spectrum disorder (ASD). Here we found that the levels of cytokines, including Eotaxin, TGF-beta1 and TNF-alpha, are elevated in Chinese children with ASD, as compared to typically developing children. The change in TGF-beta1 level was most prominent in boys, while that of Eotaxin was more significant in girls. These results provide evidence for changes in cytokine profile in Chinese children with ASD.
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5. Lau AA, Tamang SJ, Hemsley KM. {{MPS-IIIA mice acquire autistic behaviours with age}}. {Journal of inherited metabolic disease}. 2018.
Mucopolysaccharidosis (MPS) type IIIA is an inherited, neurodegenerative lysosomal storage disorder resulting from mutations in the SGSH gene. Consequently, N-sulphoglucosamine sulphohydrolase enzyme activity is reduced resulting in impaired catabolism of heparan sulphate. After an asymptomatic period, patients typically show a progressive loss of cognitive and motor skills, with death often during the second decade of life. The diagnostic criteria of autism spectrum disorders (ASD) include impaired communication and social interactions, as well as displays of repetitive behaviours and fixed interests. Children with MPS-IIIA have been shown to exhibit decreased social communicative behaviours from approximately 3-4 years of age but behavioural stereotypies are mostly absent. In this study, we investigated whether a mouse model of MPS-IIIA exhibited ASD-like symptoms. The BTBR T(+)Itpr3(tf)/J inbred mouse model of autism was used as a positive control. Male MPS-IIIA and BTBR mice were less sociable compared with unaffected C57BL/6 male mice in the reciprocal social approach test administered at 20 weeks of age. Alternations in the frequency of social interactions was not evident at earlier stages of the disease course, suggesting an acquisition of ASD-like social behaviours. Stereotypical behaviours were not evident in male MPS-IIIA mice in the marble-burying test nor was the quality of nest constructed by mice affected. Collectively, these data suggest that MPS-IIIA mice acquire autistic social behaviours similar to the human condition, and thus they may be useful for elucidating symptom generating mechanisms and novel treatments for ASD.
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6. Leung RC, Pang EW, Anagnostou E, Taylor MJ. {{Young Adults with Autism Spectrum Disorder Show Early Atypical Neural Activity during Emotional Face Processing}}. {Front Hum Neurosci}. 2018; 12: 57.
Social cognition is impaired in autism spectrum disorder (ASD). The ability to perceive and interpret affect is integral to successful social functioning and has an extended developmental course. However, the neural mechanisms underlying emotional face processing in ASD are unclear. Using magnetoencephalography (MEG), the present study explored neural activation during implicit emotional face processing in young adults with and without ASD. Twenty-six young adults with ASD and 26 healthy controls were recruited. Participants indicated the location of a scrambled pattern (target) that was presented alongside a happy or angry face. Emotion-related activation sources for each emotion were estimated using the Empirical Bayes Beamformer (pcorr Lien vers le texte intégral (Open Access ou abonnement)
7. Lucchelli JP, Maleval JC. {{[Autism: Comparing two treatment modalities]}}. {Vertex (Buenos Aires, Argentina)}. 2017; Xxviii(136): 405-10.
The treatment of autism has been a controversial issue for about four decades. The first formal description of Leo Kanner’s autism in the 1940s describes above all the evolution of a homogeneous neuropsychopathological disorder and did not evoke the idea of a possible treatment. Today, researchers trusted to subscribe to a type of therapy that oscillates between cognitive and behavioral treatment. However, other treatments proposals may be pertinent, is what we discussed in the following article.
8. Mann BW. {{Autism Narratives in Media Coverage of the MMR Vaccine-Autism Controversy under a Crip Futurism Framework}}. {Health Commun}. 2018: 1-7.
While previous studies in health communication have examined online news media regarding autism, there is a lack of research that critically examines how such media representations may stigmatize autism and seeks to eliminate the condition, particularly in the context of the resurging measles, mumps, and rubella (MMR) vaccine-autism controversy. To address this gap in the literature, this study analyzes 153 articles that engage the MMR vaccine-autism controversy from the top 10 online news sources in the U.S. from September 2015 through July 2017. It draws from Kafer’s (2013) work in Feminist, Crip, Queer, using a lens of crip futurism to interpret three major narrative themes: a death and survival narrative that purports autism as a worst-case scenario, a societal problem narrative, and a preventative narrative that seeks to eliminate the condition. These themes suggest that online news media narratives about autism surrounding the autism-MMR controversy play into stereotypes about autism, including stigmatization and prioritization of preventive behaviors and cures over supporting the lived experiences of autistic individuals. Continued research on the impact of online media portrayals of autism specifically, and disability in health contexts generally, is called for.
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9. Ozonoff S, Gangi D, Hanzel EP, Hill A, Hill MM, Miller M, Schwichtenberg AJ, Steinfeld MB, Parikh C, Iosif AM. {{Onset patterns in autism: Variation across informants, methods, and timing}}. {Autism Res}. 2018.
While previous studies suggested that regressive forms of onset were not common in autism spectrum disorder (ASD), more recent investigations suggest that the rates are quite high and may be under-reported using certain methods. The current study undertook a systematic investigation of how rates of regression differed by measurement method. Infants with (n = 147) and without a family history of ASD (n = 83) were seen prospectively for up to 7 visits in the first three years of life. Reports of symptom onset were collected using four measures that systematically varied the informant (examiner vs. parent), the decision type (categorical [regression absent or present] vs. dimensional [frequency of social behaviors]), and the timing of the assessment (retrospective vs. prospective). Latent class growth models were used to classify individual trajectories to see whether regressive onset patterns were infrequent or widespread within the ASD group. A majority of the sample was classified as having a regressive onset using either examiner (88%) or parent (69%) prospective dimensional ratings. Rates of regression were much lower using retrospective or categorical measures (from 29 to 47%). Agreement among different measurement methods was low. Declining trajectories of development, consistent with a regressive onset pattern, are common in children with ASD and may be more the rule than the exception. The accuracy of widely used methods of measuring onset is questionable and the present findings argue against their widespread use. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: This study examines different ways of measuring the onset of symptoms in autism spectrum disorder (ASD). The present findings suggest that declining developmental skills, consistent with a regressive onset pattern, are common in children with ASD and may be more the rule than the exception. The results question the accuracy of widely used methods of measuring symptom onset and argue against their widespread use.
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10. Saikusa T, Hara M, Iwama K, Yuge K, Ohba C, Okada JI, Hisano T, Yamashita Y, Okamoto N, Saitsu H, Matsumoto N, Matsuishi T. {{De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies}}. {Brain Dev}. 2018.
We present a unique 11-year-old girl showing clinical features of Rett-related disorder with distinctive facial features and multiple congenital anomalies including ocular hypertelorism, arched eyebrows, a broad nose, dental anomalies, congenital heart disease, truncal obesity, and epilepsy. A novel de novo mutation in histone deacetylase 8 (HDAC8) (c.652G>T, p.Gly218Cys) was confirmed by whole exome sequencing and Sanger sequencing. X-chromosome inactivation analysis on DNA isolated from peripheral blood lymphocytes revealed a completely skewed pattern associated with an inactive maternal allele. Late clinical loss of acquired purposeful hand movements and psychomotor deterioration may be a feature of Rett-related disorder, while distinctive facial features and multiple congenital anomalies are reminiscent of Cornelia de Lange syndrome.
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11. Slawinski BL, Talge N, Ingersoll B, Smith A, Glazier A, Kerver J, Paneth N, Racicot K. {{Maternal cytomegalovirus sero-positivity and autism symptoms in children}}. {American journal of reproductive immunology (New York, NY : 1989)}. 2018.
PROBLEM: Autism spectrum disorder (ASD) is one of the most commonly diagnosed neurodevelopmental disorders in the United States. While ASD can be significantly influenced by genetics, prenatal exposure to maternal infections has also been implicated in conferring risk. Despite this, the effects of several important maternal pathogens, such as cytomegalovirus (CMV) and herpes simplex virus 2 (HSV2), remain unknown. METHOD OF STUDY: We tested whether maternal CMV and/or HSV2 sero-positivity was associated with ASD symptoms in children. ELISA was used to assay for CMV IgG and HSV2 IgG in serum from the mothers of 82 children whose ASD symptoms were assessed at 3-6 years of age using the Social Responsiveness Scale version 2 (SRS-2). RESULTS: Associations between maternal viral serostatus and SRS-2 scores were estimated using linear regression with covariate adjustments. The children of mothers sero-positive for CMV, but not for HSV2, had SRS-2 scores 3.6-4.2 points higher, depending on the adjustment model, than sero-negative women, a significant finding, robust to several statistical adjustments. CONCLUSION: Our results suggest that maternal CMV infections may influence ASD symptoms. These findings are being further evaluated in ongoing prospective studies with larger population samples.
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12. Tyndall I, Ragless L, O’Hora D. {{Effects of perceptual load and socially meaningful stimuli on crossmodal selective attention in Autism Spectrum Disorder and neurotypical samples}}. {Consciousness and cognition}. 2018; 60: 25-36.
The present study examined whether increasing visual perceptual load differentially affected both Socially Meaningful and Non-socially Meaningful auditory stimulus awareness in neurotypical (NT, n=59) adults and Autism Spectrum Disorder (ASD, n=57) adults. On a target trial, an unexpected critical auditory stimulus (CAS), either a Non-socially Meaningful (‘beep’ sound) or Socially Meaningful (‘hi’) stimulus, was played concurrently with the presentation of the visual task. Under conditions of low visual perceptual load both NT and ASD samples reliably noticed the CAS at similar rates (77-81%), whether the CAS was Socially Meaningful or Non-socially Meaningful. However, during high visual perceptual load NT and ASD participants reliably noticed the meaningful CAS (NT=71%, ASD=67%), but NT participants were unlikely to notice the Non-meaningful CAS (20%), whereas ASD participants reliably noticed it (80%), suggesting an inability to engage selective attention to ignore non-salient irrelevant distractor stimuli in ASD.
