1. Baron-Cohen S, Robson E, Lai MC, Allison C. {{Mirror-Touch Synaesthesia Is Not Associated with Heightened Empathy, and Can Occur with Autism}}. {PLoS One};2016;11(8):e0160543.
Research has linked Mirror-Touch (MT) synaesthesia with enhanced empathy. We test the largest sample of MT synaesthetes to date to examine two claims that have been previously made: that MT synaesthetes (1) have superior empathy; and (2) only ever experience their MT synaesthesia in response to viewing a person being touched. Given that autism has been suggested to involve deficits in cognitive empathy, we also test two predictions: that MT synaesthetes should (3) be less likely than general population individuals without MT synaesthesia to have an autism spectrum condition (ASC), if MT is characterized by superior empathy; and (4) have fewer autistic traits. We selected three groups: a pure MT synaesthesia group (N = 46), a pure grapheme-colour (GC) synaesthesia group (N = 36), and a typical control group without synaesthesia (N = 46). Participants took three measures of empathy and one measure of autistic traits. MT synaesthetes did not show enhanced empathy. In addition, 30% of all MT synaesthetes recruited into this study (N = 135) reported also having ASC, and MT synaesthetes showed higher autistic trait scores than controls. Finally, some MT experiences were reported in response to viewing objects being touched. Our findings dispute the views that MT synaesthesia is linked with enhanced empathy, is less likely to occur with ASC or elevated autistic traits, and is specific to seeing a person being touched.
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2. Ben-Yosef D, Anaki D, Golan O. {{Context processing in adolescents with autism spectrum disorder: How complex could it be?}}. {Autism Res};2016 (Aug 3)
The ability of individuals with Autism Spectrum Disorder (ASD) to process context has long been debated: According to the Weak Central Coherence theory, ASD is characterized by poor global processing, and consequently-poor context processing. In contrast, the Social Cognition theory argues individuals with ASD will present difficulties only in social context processing. The complexity theory of autism suggests context processing in ASD will depend on task complexity. The current study examined this controversy through two priming tasks, one presenting human stimuli (facial expressions) and the other presenting non-human stimuli (animal faces). Both tasks presented visual targets, preceded by congruent, incongruent, or neutral auditory primes. Local and global processing were examined by presenting the visual targets in three spatial frequency conditions: High frequency, low frequency, and broadband. Tasks were administered to 16 adolescents with high functioning ASD and 16 matched typically developing adolescents. Reaction time and accuracy were measured for each task in each condition. Results indicated that individuals with ASD processed context for both human and non-human stimuli, except in one condition, in which human stimuli had to be processed globally (i.e., target presented in low frequency). The task demands presented in this condition, and the performance deficit shown in the ASD group as a result, could be understood in terms of cognitive overload. These findings provide support for the complexity theory of autism and extend it. Our results also demonstrate how associative priming could support intact context processing of human and non-human stimuli in individuals with ASD. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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3. Brennan L, Fein D, Como A, Rathwell IC, Chen CM. {{Use of the Modified Checklist for Autism, Revised with Follow Up-Albanian to Screen for ASD in Albania}}. {J Autism Dev Disord};2016 (Aug 4)
The Modified Checklist for Autism in Toddlers Revised-Albanian screener (M-CHAT-R-A) was used to screen 2594 toddlers, aged 16-30 months, at well-child visits. Two hundred fifty-three (9.75 %) screened positive; follow up on failed items were conducted by phone with 127 (50 %); the remainder were lost to follow-up. Twenty-six toddlers (21 %) continued to screen positive; 19 received full evaluations, which assessed for ASD with the Autism Diagnostic Observation Schedule and developmental delays with the Parents Assessment of Developmental Status-Developmental Milestones. All evaluated children had significant delays; 17 of the 19 met criteria for Autism/ASD. Removal of three items improved performance. Although Albania and the US are quite different in culture and language, key features of ASD appeared very similar.
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4. Cheng C, Lau SK, Doering LC. {{Astrocyte-secreted thrombospondin-1 modulates synapse and spine defects in the fragile X mouse model}}. {Mol Brain};2016;9(1):74.
Astrocytes are key participants in various aspects of brain development and function, many of which are executed via secreted proteins. Defects in astrocyte signaling are implicated in neurodevelopmental disorders characterized by abnormal neural circuitry such as Fragile X syndrome (FXS). In animal models of FXS, the loss in expression of the Fragile X mental retardation 1 protein (FMRP) from astrocytes is associated with delayed dendrite maturation and improper synapse formation; however, the effect of astrocyte-derived factors on the development of neurons is not known. Thrombospondin-1 (TSP-1) is an important astrocyte-secreted protein that is involved in the regulation of spine development and synaptogenesis. In this study, we found that cultured astrocytes isolated from an Fmr1 knockout (Fmr1 KO) mouse model of FXS displayed a significant decrease in TSP-1 protein expression compared to the wildtype (WT) astrocytes. Correspondingly, Fmr1 KO hippocampal neurons exhibited morphological deficits in dendritic spines and alterations in excitatory synapse formation following long-term culture. All spine and synaptic abnormalities were prevented in the presence of either astrocyte-conditioned media or a feeder layer derived from FMRP-expressing astrocytes, or following the application of exogenous TSP-1. Importantly, this work demonstrates the integral role of astrocyte-secreted signals in the establishment of neuronal communication and identifies soluble TSP-1 as a potential therapeutic target for Fragile X syndrome.
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5. Downs J, Leonard H. {{Quantitative and qualitative insights into the experiences of children with Rett syndrome and their families}}. {Wien Med Wochenschr};2016 (Aug 4)
Rett syndrome is a rare neurodevelopmental disorder caused by a mutation in the MECP2 gene. It is associated with severe functional impairments and medical comorbidities such as scoliosis and poor growth. The population-based and longitudinal Australian Rett Syndrome Database was established in 1993 and has supported investigations of the natural history of Rett syndrome and effectiveness of treatments, as well as a suite of qualitative studies to identify deeper meanings. This paper describes the early presentation of Rett syndrome, including regression and challenges for families seeking a diagnosis. We discuss the importance of implementing strategies to enhance daily communication and movement, describe difficulties interpreting the presence of pain and discomfort, and argue for a stronger evidence base in relation to management. Finally, we outline a framework for understanding quality of life in Rett syndrome and suggest areas of life to which we can direct efforts in order to improve quality of life. Each of these descriptions is illustrated with vignettes of child and family experiences. Clinicians and researchers must continue to build this framework of knowledge and understanding with efforts committed to providing more effective treatments and supporting the best quality of life for those affected.
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6. D’Souza D, D’Souza H, Johnson MH, Karmiloff-Smith A. {{Audio-visual speech perception in infants and toddlers with Down syndrome, fragile X syndrome, and Williams syndrome}}. {Infant Behav Dev};2016 (Aug 4);44:249-262.
Typically-developing (TD) infants can construct unified cross-modal percepts, such as a speaking face, by integrating auditory-visual (AV) information. This skill is a key building block upon which higher-level skills, such as word learning, are built. Because word learning is seriously delayed in most children with neurodevelopmental disorders, we assessed the hypothesis that this delay partly results from a deficit in integrating AV speech cues. AV speech integration has rarely been investigated in neurodevelopmental disorders, and never previously in infants. We probed for the McGurk effect, which occurs when the auditory component of one sound (/ba/) is paired with the visual component of another sound (/ga/), leading to the perception of an illusory third sound (/da/ or /tha/). We measured AV integration in 95 infants/toddlers with Down, fragile X, or Williams syndrome, whom we matched on Chronological and Mental Age to 25 TD infants. We also assessed a more basic AV perceptual ability: sensitivity to matching vs. mismatching AV speech stimuli. Infants with Williams syndrome failed to demonstrate a McGurk effect, indicating poor AV speech integration. Moreover, while the TD children discriminated between matching and mismatching AV stimuli, none of the other groups did, hinting at a basic deficit or delay in AV speech processing, which is likely to constrain subsequent language development.
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7. Ekhlaspour L, Baskaran C, Campoverde KJ, Sokoloff NC, Neumeyer AM, Misra M. {{Bone Density in Adolescents and Young Adults with Autism Spectrum Disorders}}. {J Autism Dev Disord};2016 (Aug 4)
Patients with autism spectrum disorder (ASD) are at increased risk for fracture, and peri-pubertal boys with ASD have lower bone mineral density (BMD) than controls. Data are lacking regarding BMD in older adolescents with ASD. We compared BMD using dual-energy X-ray absorptiometry in 9 adolescents/young adults with ASD against 9 typically developing matched controls. Patients with ASD and controls were excluded if they had other underlying conditions that may affect bone. Compared to controls, patients with ASD had (i) lower femoral neck and hip BMD Z-scores, and (ii) lower spine, femoral neck and hip height adjusted BMD Z-scores even after controlling for BMI. Understanding the underlying pathophysiology will be key to developing therapies to improve BMD and reduce fracture risk.
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8. Harder R, Malow BA, Goodpaster RL, Iqbal F, Halbower A, Goldman SE, Fawkes DB, Wang L, Shi Y, Baudenbacher F, Diedrich A. {{Heart rate variability during sleep in children with autism spectrum disorder}}. {Clin Auton Res};2016 (Aug 4)
PURPOSE: Autonomic dysfunction has been reported in autism spectrum disorders (ASD). Less is known about autonomic function during sleep in ASD. The objective of this study is to provide insight into the autonomic cardiovascular control during different sleep stages in ASD. We hypothesized that patients with ASD have lower vagal and higher sympathetic modulation with elevated heart rate, as compared to typical developing children (TD). METHODS: We studied 21 children with ASD and 23 TD children during overnight polysomnography. Heart rate and spectral parameters were calculated for each vigilance stage during sleep. Data from the first four sleep cycles were used to avoid possible effects of different individual sleep lengths and sleep cycle structures. Linear regression models were applied to study the effects of age and diagnosis (ASD and TD). RESULTS: In both groups, HR decreased during non-REM sleep and increased during REM sleep. However, HR was significantly higher in stages N2, N3 and REM sleep in the ASD group. Children with ASD showed less high frequency (HF) modulation during N3 and REM sleep. LF/HF ratio was higher during REM. Heart rate decreases with age at the same level in ASD and in TD. We found an age effect in LF in REM different in ASD and TD. CONCLUSION: Our findings suggest possible deficits in vagal influence to the heart during sleep, especially during REM sleep. Children with ASD may have higher sympathetic dominance during sleep but rather due to decreased vagal influence.
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9. Jones S, Bremer E, Lloyd M. {{Autism spectrum disorder: family quality of life while waiting for intervention services}}. {Qual Life Res};2016 (Aug 2)
PURPOSE: Families of children with autism spectrum disorder (ASD) often experience high levels of stress; it is important to investigate the family quality of life (FQOL) to understand how to serve the entire family, not just the child. The purpose of this investigation was to determine: (a) how families with a child with ASD view their overall FQOL and (b) what aspects of everyday life have the greatest influence on the FQOL? METHODS: A survey designed to asses FQOL was mailed to all families (n = 454) of children with ASD (0-18 years) waiting for government-funded services. Results from 151 surveys were examined (31 % response rate). Descriptive on all variables, ordinal logistic regression, and t tests were used to analyze the data. RESULTS: The most influential factors on FQOL were whether the child with ASD had a major health concern, whether the family’s needs were met by disability-related services, and whether there were opportunities to engage in leisure and recreation activities. CONCLUSIONS: Families on waitlists experience challenges in FQOL influenced by the health of the family members; this is implicitly important for service agencies and providers. Future research should continue to explore how access to disability-related services impacts FQOL; and how these associations may be moderated by contextual factors such as socioeconomic status, health of child and family members, access and engagement in recreation, and severity of the child’s needs.
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10. Kay-Raining Bird E, Trudeau N, Sutton A. {{Pulling it all together: The road to lasting bilingualism for children with developmental disabilities}}. {J Commun Disord};2016 (Jul 25)
Children with DD must and do become bilingual, but the research reported in this special issue raises questions about equitable access to bilingual opportunities and provision of appropriate supports to ensure optimal bilingual growth in these children. The purpose of the present article was to apply the findings from our international collaboration to inform policy and practice on bilingualism in children with developmental disabilities (DD). To do this, we first overview the research presented in detail in other articles of this special issue: a narrative literature review, a review of site policies and practices related to special education and language education, a qualitative analysis of key informant interviews, and a quantitative analysis of surveys of practitioners. From these overviews emerge a complex set of contextual factors that impact bilingual development in children with DD. We then use the Bioecological Systems model of Bronfenbrenner and Morris (2007) and conceptual maps (C-maps) to examine the particular circumstances of three hypothetical children with DD who are in very different bilingual contexts. In so doing, areas of both positive and negative influence on lasting bilingualism are identified for each child. We end with recommendations for increasing access to and support for bilingualism in children with DD.
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11. Newschaffer CJ, Schriver E, Berrigan L, Landa R, Stone WL, Bishop S, Burkom D, Golden A, Ibanez L, Kuo A, Lakes KD, Messinger DS, Paterson S, Warren ZE. {{Development and validation of a streamlined autism case confirmation approach for use in epidemiologic risk factor research in prospective cohorts}}. {Autism Res};2016 (Aug 3)
The cost associated with incorporating standardized observational assessments and diagnostic interviews in large-scale epidemiologic studies of autism spectrum disorders (ASD) risk factors can be substantial. Streamlined approaches for confirming ASD case status would benefit these studies. We conducted a multi-site, cross-sectional criterion validity study in a convenience sample of 382 three-year olds scheduled for neurodevelopmental evaluation. ASD case classification as determined by three novel assessment instruments (the Early Video-guided Autism Screener E-VAS; the Autism Symptom Interview, ASI; the Screening Tool for Autism in Toddlers Expanded, STAT-E) each designed to be administered in less than 30 minutes by lay staff, was compared to ADOS scores and DSM-based diagnostic assessment from a qualified clinician. Sensitivity and specificity of each instrument alone and in combination were estimated. Alternative cutpoints were identified under different criteria and two-stage cross validation was used to avoid overfitting. Findings were interpreted in the context of a large, prospective pregnancy cohort study utilizing a two-stage approach to case identification. Under initial cutpoints, sensitivity ranged from 0.63 to 0.92 and specificity from 0.35 to 0.70. Cutpoints giving equal weight to sensitivity and specificity resulted in sensitivity estimates ranging from 0.45 to 0.83 and specificity ranging from 0.49 to 0.86. Several strategies were well-suited for application as a second-stage case-confirmation. These included the STAT-E alone and the parallel administration of both the E-VAS and the ASI. Use of more streamlined methods of case-confirmation in large-scale prospective cohort epidemiologic investigations of ASD risk factors appears feasible. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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12. Percy AK. {{Progress in Rett Syndrome: from discovery to clinical trials}}. {Wien Med Wochenschr};2016 (Aug 4)
Fifty years ago, Andreas Rett described a disorder in 22 females featuring prominent regression of fine motor and communication skills, cognitive impairment, stereotypic movements, periodic breathing, and gait abnormalities. This disorder became known as Rett syndrome (RTT) following the report of Hagberg et al. in 1983. Although RTT was scarcely recognized at that time in the United States, here the efforts of Rett and Hagberg led to rapid progress in recognition and diagnosis, a clearer understanding of its clinical and pathological underpinnings, and, ultimately, identification of mutations in the methyl-CpG-binding protein 2 (MECP2) gene as the primary cause of this unique and challenging neurodevelopmental disorder. Thereafter, a natural history study and critical translational research in animal models paved the way for potential disease-modifying agents to be assessed in human clinical trials. To be successful, the energies of the international community at all levels, including researchers in clinical and basic science, funding agencies, pharmaceutical companies, patient advocates, and, above all, parents and their children are essential. Otherwise, hopes for effective treatment, if not, a cure, will remain unfulfilled.
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13. Tint A, Maughan AL, Weiss JA. {{Community participation of youth with intellectual disability and autism spectrum disorder}}. {J Intellect Disabil Res};2016 (Aug 4)
BACKGROUND: Community participation is associated with a range of positive developmental outcomes; however, the frequency, depth and resources associated with participation for youth with intellectual disability (ID) and autism spectrum disorder (ASD) are not well understood. METHOD: Caregivers of 212 youth with ASD and ID and only ID, aged 11-22 years, completed an online survey. Comparisons were made of caregiver reports of diversity and frequency of participation, levels of participation involvement and related environmental barriers and supports. RESULTS: The diversity and frequency of community participation of youth with ASD and ID approximated that of youth with ID only. Youth with ASD and ID were reported to be significantly less involved in the community activities in which they participated. Environmental features, and in particular, the social demands of community-based activities, were significant barriers to youths’ participation. CONCLUSIONS: The current study highlights individual and environmental factors amenable to intervention that may foster successful community participation among youth with ASD and ID.
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14. Valero MR, Sadadcharam M, Henderson L, Freeman SR, Lloyd S, Green KM, Bruce IA. {{Compliance with cochlear implantation in children subsequently diagnosed with autism spectrum disorder}}. {Cochlear Implants Int};2016 (Aug 4):1-7.
OBJECTIVE: To assess the compliance with cochlear implantation (CI) in children subsequently diagnosed with autism spectrum disorder (ASD). METHODS: This was a retrospective case review and survey performed at a tertiary referral centre. Children meeting the criteria for CI who were implanted between 1989 and 2015 and who subsequently received a diagnosis of ASD were included. The primary outcome measure was to assess compliance with CI in children subsequently diagnosed with ASD. Secondary outcome measures included assessment of pre-CI risk factors that may have identified children at higher risk of a subsequent diagnosis of ASD, as well as the benefit obtained by these children following CI. RESULTS: 1050 children were implanted between 1989 and 2015. Of these, 22 children were diagnosed with ASD after receiving their CI. The average age at implantation was 2.6 years (median 3, range 1-8 years). The average age for diagnosis of ASD was 5 years, approximately 2 years (median 22 months, range 2-85 months) following CI. Of these, 16/22 (712.7%) regularly use their CI. 6/22 (27.2%) children became non-users of their implant. Some degree of verbal communication was used by 13/22 (59%) of our studied group. CONCLUSION: There is a range of level of disabilities in ASD, with some relatively minor social communication difficulties through to severe language, cognitive, and behavioural difficulties. Compliance with CI is variable and appears to correlate with the severity of the ASD. Preoperative counselling should include information about the possible impact of later diagnosed disabilities such as ASD on performance.
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15. Watanabe T, Rees G. {{Anatomical imbalance between cortical networks in autism}}. {Sci Rep};2016;6:31114.
Influential psychological models of autism spectrum disorder (ASD) have proposed that this prevalent developmental disorder results from impairment of global (integrative) information processing and overload of local (sensory) information. However, little neuroanatomical evidence consistent with this account has been reported. Here, we examined relative grey matter volumes (rGMVs) between three cortical networks, how they changed with age, and their relationship with core symptomatology. Using public neuroimaging data of high-functioning ASD males and age-/sex-/IQ-matched controls, we first identified age-associated atypical increases in rGMVs of the regions of two sensory systems (auditory and visual networks), and an age-related aberrant decrease in rGMV of a task-control system (fronto-parietal network, FPN) in ASD children. While the enlarged rGMV of the auditory network in ASD adults was associated with the severity of autistic socio-communicational core symptom, that of the visual network was instead correlated with the severity of restricted and repetitive behaviours in ASD. Notably, the atypically decreased rGMV of FPN predicted both of the two core symptoms. These findings suggest that disproportionate undergrowth of a task-control system (FPN) may be a common anatomical basis for the two ASD core symptoms, and relative overgrowth of the two different sensory systems selectively compounds the distinct symptoms.
