1. Al-Farsi YM, Waly MI, Al-Sharbati MM, Al-Shafaee MA, Al-Farsi OA, Al-Khaduri MM, Gupta I, Ouhtit A, Al-Adawi S, Al-Said MF, Deth RC. {{Levels of Heavy Metals and Essential Minerals in Hair Samples of Children with Autism in Oman: a Case-Control Study}}. {Biol Trace Elem Res};2012 (Nov 28)
Toxic levels of heavy metals and low levels of essential minerals have been suggested to play a critical role in the pathogenesis of autism spectrum disorders (ASD). This study documents the levels of heavy metals and essential minerals in hair samples of children with ASD in Muscat, the urbanized capital of Oman, Muscat. The study included 27 children with ASD and 27 matched non-ASD controls. Parental interviews were held and dietary intake questionnaires completed in conjunction with the collection of hair samples. Analysis of heavy metals and essential minerals was carried out by inductively coupled plasma mass spectrometry. Chi-square analysis and non-parametric Fisher’s exact tests were used to assess statistical significance. Children with ASD had significantly higher levels of all 11 analyzed heavy metals in their hair samples (P < 0.05), ranging from 150 to 365 % of control levels. ASD children also had significantly higher levels of essential minerals sulfur, sodium, magnesium, potassium, zinc, and iron, but lower levels of calcium and copper in their hair samples. This study corroborates data from previous studies in different parts of the world indicating the presence of elevated levels of heavy metals and selective depletion of essential minerals in the hair of children with ASD.
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2. Bang J, Burns J, Nadig A. {{Brief Report: Conveying Subjective Experience in Conversation: Production of Mental State Terms and Personal Narratives in Individuals with High Functioning Autism}}. {J Autism Dev Disord};2012 (Nov 24)
Mental state terms and personal narratives are conversational devices used to communicate subjective experience in conversation. Pre-adolescents with high-functioning autism (HFA, n = 20) were compared with language-matched typically-developing peers (TYP, n = 17) on production of mental state terms (i.e., perception, physiology, desire, emotion, cognition) and personal narratives (sequenced retelling of life events) during short conversations. HFA and TYP participants did not differ in global use of mental state terms, nor did they exhibit reduced production of cognitive terms in particular. Participants with HFA produced significantly fewer personal narratives. They also produced a smaller proportion of their mental state terms during personal narratives. These findings underscore the importance of assessing and developing qualitative aspects of conversation in highly verbal individuals with autism.
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3. Dawson G. {{Dramatic Increase in Autism Prevalence Parallels Explosion of Research Into Its Biology and Causes}}. {Arch Gen Psychiatry};2012 (Nov 26):1-2.
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4. El-Kordi A, Winkler D, Hammerschmidt K, Kastner A, Krueger D, Ronnenberg A, Ritter C, Jatho J, Radyushkin K, Bourgeron T, Fischer J, Brose N, Ehrenreich H. {{Development of an autism severity score for mice using Nlgn4 null mutants as a construct-valid model of heritable monogenic autism}}. {Behav Brain Res};2012 (Nov 23)
Autism is the short name of a complex and heterogeneous group of disorders (autism spectrum disorders, ASD) with several lead symptoms required for classification, including compromised social interaction, reduced verbal communication and stereotyped repetitive behaviors/restricted interests. The etiology of ASD is still unknown in most cases but monogenic heritable forms exist that have provided insights into ASD pathogenesis and have led to the notion of autism as a ‘synapse disorder’. Among the most frequent monogenic causes of autism are loss-of-function mutations of the NLGN4X gene which encodes the synaptic cell adhesion protein neuroligin-4X (NLGN4X). We previously described autism-like behaviors in male Nlgn4 null mutant mice, including reduced social interaction and ultrasonic communication. Here, we extend the phenotypical characterization of Nlgn4 null mutant mice to both genders and add a series of additional autism-relevant behavioral readouts. We now report similar social interaction and ultrasonic communication deficits in females as in males. Furthermore, aggression, nest-building parameters, as well as self-grooming and circling as indicators of repetitive behaviors/stereotypies were explored in both genders. The construction of a gender-specific autism severity composite score for Nlgn4 mutant mice markedly diminishes population/sample heterogeneity typically obtained for single tests, resulting in p values of <0.00001 and a genotype predictability of 100% for male and of >83% for female mice. Taken together, these data underscore the similarity of phenotypical consequences of Nlgn4/NLGN4X loss-of-function in mouse and man, and emphasize the high relevance of Nlgn4 null mutant mice as an ASD model with both construct and face validity.
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5. Floris DL, Chura LR, Holt RJ, Suckling J, Bullmore ET, Baron-Cohen S, Spencer MD. {{Psychological Correlates of Handedness and Corpus Callosum Asymmetry in Autism: The left Hemisphere Dysfunction Theory Revisited}}. {J Autism Dev Disord};2012 (Nov 23)
Rightward cerebral lateralization has been suggested to be involved in the neuropathology of autism spectrum conditions. We investigated functional and neuroanatomical asymmetry, in terms of handedness and corpus callosum measurements in male adolescents with autism, their unaffected siblings and controls, and their associations with executive dysfunction and symptom severity. Adolescents with autism did not differ from controls in functional asymmetry, but neuroanatomically showed the expected pattern of stronger rightward lateralization in the posterior and anterior midbody based on their hand-preference. Measures of symptom severity were related to rightward asymmetry in three subregions (splenium, posterior midbody and rostral body). We found the opposite pattern for the isthmus and rostrum with better cognitive and less severe clinical scores associated with rightward lateralization.
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6. Gil S, Chambres P, Hyvert C, Fanget M, Droit-Volet S. {{Children with autism spectrum disorders have « the working raw material » for time perception}}. {PLoS One};2012;7(11):e49116.
The aim of the present study was to investigate whether children with Autism Spectrum Disorders (ASD) have a deficit in time perception. Twelve ASD children of normal intelligence and twelve typically developing children (TD) – matched on sex, chronological age, and mental age – performed four temporal bisection tasks that were adapted to the population. Two short (0.5 to 1 s and 1.25 to 2.5 s) and two long duration ranges (3.12 to 6.25 s and 7.81 to 16.62 s) were thus examined. The findings suggested that the perception of time in bisection is not impaired in ASD.
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7. Huang AX, Jia M, Wheeler JJ. {{Children with Autism in the People’s Republic of China: Diagnosis, Legal Issues, and Educational Services}}. {J Autism Dev Disord};2012 (Nov 20)
Since the late 1970s, special education in the People’s Republic of China has experienced significant reform and fast development. However, education for children with severe developmental disabilities, especially autism spectrum disorders (ASDs), is still the greatest challenge in the field. This paper aims to give readers an overview of what is happening to children with ASDs in China. We first address the issue of prevalence of ASDs, and then offer an introduction to the diagnostic process. After that, a review of disability-related legislation is provided, followed by a description of current treatment options and available educational services. Finally we introduce all extent service providers and their roles.
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8. Krahn TM, Fenton A. {{The extreme male brain theory of autism and the potential adverse effects for boys and girls with autism}}. {J Bioeth Inq};2012 (Mar);9(1):93-103.
Autism, typically described as a spectrum neurodevelopmental disorder characterized by impairments in verbal ability and social reciprocity as well as obsessive or repetitious behaviours, is currently thought to markedly affect more males than females. Not surprisingly, this encourages a gendered understanding of the Autism Spectrum. Simon Baron-Cohen, a prominent authority in the field of autism research, characterizes the male brain type as biased toward systemizing. In contrast, the female brain type is understood to be biased toward empathizing. Since persons with autism are characterized as hyper-systemizers and hypo-empathizers, Baron-Cohen suggests that, whether they are male or female, most possess an « extreme male brain profile. » We argue that Baron-Cohen is misled by an unpersuasive gendering of certain capacities or aptitudes in the human population. Moreover, we suggest that this may inadvertently favour boys in diagnosing children with Autism Spectrum Disorders. If this is correct, it could also have rather serious consequences for treatment and services for girls (and women) on the Autism Spectrum.
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9. Mathersul D, McDonald S, Rushby JA. {{Psychophysiological correlates of social judgement in high-functioning adults with autism spectrum disorder}}. {Int J Psychophysiol};2012 (Nov 23)
Neural structures involved in social cognition (e.g., amygdala, orbitofrontal cortex) have been implicated in judgements of trustworthiness. These regions are also functionally atypical in individuals with autism spectrum disorders (ASDs). Studies investigating judgements of trustworthiness in ASDs have suggested possible disruptions in the allocation of significance to social stimuli. Concurrent measures of autonomic responses provide further insight into these deficits, given their role in the direction of attention and allocation of significance. Thirty high-functioning adults with ASDs and 31 non-clinical controls viewed neutral images piloted as most « positive » and « negative ». Skin conductance (SCR, SCL) and evoked cardiac deceleration (ECD) were recorded. Adults with ASDs did not differ from controls in ratings of trustworthiness. However, they displayed atypical SCRs, providing further support for a disruption in the allocation of emotional significance.
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10. McDuffie A, Kover ST, Hagerman R, Abbeduto L. {{Investigating Word Learning in Fragile X Syndrome: A Fast-Mapping Study}}. {J Autism Dev Disord};2012 (Nov 20)
Fast-mapping paradigms have not been used previously to examine the process of word learning in boys with fragile X syndrome (FXS), who are likely to have intellectual impairment, language delays, and symptoms of autism. In this study, a fast-mapping task was used to investigate associative word learning in 4- to 10-year-old boys with FXS relative to younger typically developing boys and age-matched boys with autism spectrum disorders (ASD). Task performance exceeded chance levels for all groups; however, boys with FXS outperformed boys with ASD, despite having lower levels of nonverbal cognition. Memory task demands significantly impacted performance only for boys with typical development. For boys with FXS or ASD, fast-mapping uniquely accounted for small but significant variance in concurrent levels of vocabulary comprehension as did chronological age and nonverbal IQ, but not autism severity. Understanding the fast-mapping process has implications for designing interventions to support word learning and language acquisition in these populations.
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11. Molen MJ, Molen WM. {{Title: Reduced alpha and exaggerated theta power during the resting-state EEG in fragile X syndrome}}. {Biol Psychol};2012 (Nov 23)
This study characterizes the resting-state EEG in males with fragile X syndrome to reveal abnormalities in oscillatory brain dynamics. Analyses of the eyes-closed EEG epochs showed that the resting-state EEG in FXS can be characterized by elevated relative theta power (4-8Hz) and reduced relative upper-alpha power (10-12Hz). Although preliminary, these findings suggest that the well-documented imbalance in excitatory/inhibitory cortical circuit activity in FXS can be revealed the level of oscillatory behavior at the scalp. A next step for future studies is linking the EEG resting-state indices to cognitive and behavioral measures.
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12. Murdaugh DL, Shinkareva SV, Deshpande HR, Wang J, Pennick MR, Kana RK. {{Differential Deactivation during Mentalizing and Classification of Autism Based on Default Mode Network Connectivity}}. {PLoS One};2012;7(11):e50064.
The default mode network (DMN) is a collection of brain areas found to be consistently deactivated during task performance. Previous neuroimaging studies of resting state have revealed reduced task-related deactivation of this network in autism. We investigated the DMN in 13 high-functioning adults with autism spectrum disorders (ASD) and 14 typically developing control participants during three fMRI studies (two language tasks and a Theory-of-Mind (ToM) task). Each study had separate blocks of fixation/resting baseline. The data from the task blocks and fixation blocks were collated to examine deactivation and functional connectivity. Deficits in the deactivation of the DMN in individuals with ASD were specific only to the ToM task, with no group differences in deactivation during the language tasks or a combined language and self-other discrimination task. During rest blocks following the ToM task, the ASD group showed less deactivation than the control group in a number of DMN regions, including medial prefrontal cortex (MPFC), anterior cingulate cortex, and posterior cingulate gyrus/precuneus. In addition, we found weaker functional connectivity of the MPFC in individuals with ASD compared to controls. Furthermore, we were able to reliably classify participants into ASD or typically developing control groups based on both the whole-brain and seed-based connectivity patterns with accuracy up to 96.3%. These findings indicate that deactivation and connectivity of the DMN were altered in individuals with ASD. In addition, these findings suggest that the deficits in DMN connectivity could be a neural signature that can be used for classifying an individual as belonging to the ASD group.
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13. Nicholl J, Waters W, Suwalski S, Brown S, Hull Y, Harbord MG, Entwistle J, Thompson S, Clark D, Pridmore C, Haan E, Barnett C, McGregor L, Liebelt J, Thompson EM, Friend K, Bain SM, Yu S, Mulley JC. {{Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH}}. {Am J Med Genet B Neuropsychiatr Genet};2012 (Nov 26)
The clinical significance of chromosomal microdeletions and microduplications was predicted based on their gene content, de novo or familial inheritance and accumulated knowledge recorded on public databases. A patient group comprised of 247 cases with epilepsy and its common co-morbidities of developmental delay, intellectual disability, autism spectrum disorders, and congenital abnormalities was reviewed prospectively in a diagnostic setting using a standardized oligo-array CGH platform. Seventy-three (29.6%) had copy number variations (CNVs) and of these 73 cases, 27 (37.0%) had CNVs that were likely causative. These 27 cases comprised 10.9% of the 247 cases reviewed. The range of pathogenic CNVs associated with seizures was consistent with the existence of many genetic determinants for epilepsy. (c) 2012 Wiley Periodicals, Inc.
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14. Nicolaidis C, Raymaker D, McDonald K, Dern S, Boisclair WC, Ashkenazy E, Baggs A. {{Comparison of Healthcare Experiences in Autistic and Non-Autistic Adults: A Cross-Sectional Online Survey Facilitated by an Academic-Community Partnership}}. {J Gen Intern Med};2012 (Nov 21)
BACKGROUND: Little is known about the healthcare experiences of adults on the autism spectrum. Moreover, autistic adults have rarely been included as partners in autism research. OBJECTIVE: To compare the healthcare experiences of autistic and non-autistic adults via an online survey. METHODS: We used a community-based participatory research (CBPR) approach to adapt survey instruments to be accessible to autistic adults and to conduct an online cross-sectional survey. We assessed preliminary psychometric data on the adapted scales. We used multivariate analyses to compare healthcare experiences of autistic and non-autistic participants. RESULTS: Four hundred and thirty-seven participants completed the survey (209 autistic, 228 non-autistic). All adapted scales had good to excellent internal consistency reliability (alpha 0.82-0.92) and strong construct validity. In multivariate analyses, after adjustment for demographic characteristics, health insurance, and overall health status, autistic adults reported lower satisfaction with patient-provider communication (beta coefficient -1.9, CI -2.9 to -0.9), general healthcare self-efficacy (beta coefficient -11.9, CI -14.0 to -8.6), and chronic condition self-efficacy (beta coefficient -4.5, CI -7.5 to -1.6); higher odds of unmet healthcare needs related to physical health (OR 1.9 CI 1.1-3.4), mental health (OR 2.2, CI 1.3-3.7), and prescription medications (OR 2.8, CI 2.2-7.5); lower self-reported rates of tetanus vaccination (OR 0.5, CI 0.3-0.9) and Papanicolaou smears (OR 0.5, CI 0.2-0.9); and greater odds of using the emergency department (OR 2.1, CI 1.8-3.8). CONCLUSION: A CBPR approach may facilitate the inclusion of people with disabilities in research by increasing researchers’ ability to create accessible data collection instruments. Autistic adults who use the Internet report experiencing significant healthcare disparities. Efforts are needed to improve the healthcare of autistic individuals, including individuals who may be potentially perceived as having fewer disability-related needs.
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15. Robertson CE, Martin A, Baker CI, Baron-Cohen S. {{Atypical integration of motion signals in autism spectrum conditions}}. {PLoS One};2012;7(11):e48173.
Vision in Autism Spectrum Conditions (ASC) is characterized by enhanced perception of local elements, but impaired perception of global percepts. Deficits in coherent motion perception seem to support this characterization, but the roots and robustness of such deficits remain unclear. We aimed to investigate the dynamics of the perceptual decision-making network known to support coherent motion perception. In a series of forced-choice coherent motion perception tests, we parametrically varied a single stimulus dimension, viewing duration, to test whether the rate at which evidence is accumulated towards a global decision is atypical in ASC. 40 adult participants (20 ASC) performed a classic motion discrimination task, manually indicating the global direction of motion in a random-dot kinematogram across a range of coherence levels (2-75%) and stimulus-viewing durations (200-1500 ms). We report a deficit in global motion perception at short viewing durations in ASC. Critically, however, we found that increasing the amount of time over which motion signals could be integrated reduced the magnitude of the deficit, such that at the longest duration there was no difference between the ASC and control groups. Further, the deficit in motion integration at the shortest duration was significantly associated with the severity of autistic symptoms in our clinical population, and was independent from measures of intelligence. These results point to atypical integration of motion signals during the construction of a global percept in ASC. Based on the neural correlates of decision-making in global motion perception our findings suggest the global motion deficit observed in ASC could reflect a slower or more variable response from the primary motion area of the brain or longer accumulation of evidence towards a decision-bound in parietal areas.
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16. Roux AM, Herrera P, Wold CM, Dunkle MC, Glascoe FP, Shattuck PT. {{Developmental and autism screening through 2-1-1: reaching underserved families}}. {Am J Prev Med};2012 (Dec);43(6 Suppl 5):S457-463.
BACKGROUND: Developmental disorders, including autism spectrum disorders (ASDs), are increasing in prevalence. Early identification is necessary for early intervention, which is critical for reducing challenges and lifetime costs, especially for ASDs. Because not all children have equal access to developmental and autism screening through primary care settings, nontraditional methods are needed to reach underserved populations. PURPOSE: In this proof-of-concept study, the 2-1-1 Los Angeles County Developmental Screening Project (2-1-1 LA Project) provided developmental and autism screening by telephone in a population of low-income and racially and ethnically diverse children. METHODS: Aggregate data were reviewed for 2845 children who were screened for developmental delays using the Parents’ Evaluation of Developmental Status (PEDS) instrument and/or autism using the Modified Checklist for Autism in Toddlers (M-CHAT) instrument between September 1, 2009, and October 31, 2011. RESULTS: Data analysis was conducted December 2011 through February 2012. A majority of children (56%) screened with the PEDS had a moderate to high risk of developmental delays, including 28.2% classified as high-risk, which indicates need for further evaluation. Among 1605 children screened with the M-CHAT, 21.2% had an elevated risk of ASDs. Follow-up care coordination was provided for 2625 children to facilitate completion of referrals for diagnostic evaluation, early childhood education, and other developmental or behavioral needs. CONCLUSIONS: The project’s approach enhanced access to screenings and referral uptake in a population of children that may have difficulty accessing primary care. Findings suggest the potential of nontraditional developmental screening models.
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17. Webster AA, Carter M. {{A descriptive examination of the types of relationships formed between children with developmental disability and their closest peers in inclusive school settings}}. {J Intellect Dev Disabil};2012 (Nov 27)
Background One of the most commonly cited rationales for inclusive education is to enable the development of quality relationships with typically developing peers. Relatively few researchers have examined the features of the range of relationships that children with developmental disability form in inclusive school settings. Method Interviews were conducted with 25 children with developmental disability, aged 5 and 12 years, their 3 closest peers, and parents and teachers to examine 6 types of relationships. Results Behaviours associated with general friendship and acquaintance were the most commonly reported. Few dyads reported high rates of behaviour associated with special treatment, helping, ignoring, or intimate best friend relationships. Conclusions The relationships of the majority of dyads were characterised by friendship or acceptance, but evidence of more intimate relationships was limited. An important direction for future research is the examination of ways to encourage more intimate relationships.
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18. Williams D, Boucher J, Lind S, Jarrold C. {{Time-Based and Event-Based Prospective Memory in Autism Spectrum Disorder: The Roles of Executive Function and Theory of Mind, and Time-Estimation}}. {J Autism Dev Disord};2012 (Nov 18)
Prospective memory (remembering to carry out an action in the future) has been studied relatively little in ASD. We explored time-based (carry out an action at a pre-specified time) and event-based (carry out an action upon the occurrence of a pre-specified event) prospective memory, as well as possible cognitive correlates, among 21 intellectually high-functioning children with ASD, and 21 age- and IQ-matched neurotypical comparison children. We found impaired time-based, but undiminished event-based, prospective memory among children with ASD. In the ASD group, time-based prospective memory performance was associated significantly with diminished theory of mind, but not with diminished cognitive flexibility. There was no evidence that time-estimation ability contributed to time-based prospective memory impairment in ASD.
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19. Wolff JJ, Hupp SC, Symons FJ. {{Brief Report: Avoidance Extinction as Treatment for Compulsive and Ritual Behavior in Autism}}. {J Autism Dev Disord};2012 (Nov 20)
Treatment options for maladaptive repetitive behaviors associated with autism are limited. This is particularly so for ritual and compulsive forms of repetitive behavior, which commonly interfere with adaptive activities and may cause distress to individuals with autism and their families. The present study assessed an avoidance extinction approach to treatment of frequent, idiosyncratic ritual and compulsive behaviors among a small clinical sample (n = 3) of adults with autism and intellectual disability. Single case experimental design results indicate that intervention achieved extinction for 2 of the 3 participants, with the third showing a marked decrease in target behavior. A distinct extinction pattern consistent with functionally avoidant behavior was noted for the two participants who best responded to treatment.
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20. Yerys BE, Ruiz E, Strang J, Sokoloff J, Kenworthy L, Vaidya CJ. {{Modulation of attentional blink with emotional faces in typical development and in autism spectrum disorders}}. {J Child Psychol Psychiatry};2012 (Nov 26)
Background: The attentional blink (AB) phenomenon was used to assess the effect of emotional information on early visual attention in typically developing (TD) children and children with autism spectrum disorders (ASD). The AB effect is the momentary perceptual unawareness that follows target identification in a rapid serial visual processing stream. It is abolished or reduced for emotional stimuli, indicating that emotional information has privileged access to early visual attention processes. Methods: We examined the AB effect for faces with neutral and angry facial expressions in 8- to 14-year-old children with and without an ASD diagnosis. Results: Children with ASD exhibited the same magnitude AB effect as TD children for both neutral and angry faces. Conclusions: Early visual attention to emotional facial expressions was preserved in children with ASD.
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21. Zielinski BA, Anderson JS, Froehlich AL, Prigge MB, Nielsen JA, Cooperrider JR, Cariello AN, Fletcher PT, Alexander AL, Lange N, Bigler ED, Lainhart JE. {{scMRI Reveals Large-Scale Brain Network Abnormalities in Autism}}. {PLoS One};2012;7(11):e49172.
Autism is a complex neurological condition characterized by childhood onset of dysfunction in multiple cognitive domains including socio-emotional function, speech and language, and processing of internally versus externally directed stimuli. Although gross brain anatomic differences in autism are well established, recent studies investigating regional differences in brain structure and function have yielded divergent and seemingly contradictory results. How regional abnormalities relate to the autistic phenotype remains unclear. We hypothesized that autism exhibits distinct perturbations in network-level brain architecture, and that cognitive dysfunction may be reflected by abnormal network structure. Network-level anatomic abnormalities in autism have not been previously described. We used structural covariance MRI to investigate network-level differences in gray matter structure within two large-scale networks strongly implicated in autism, the salience network and the default mode network, in autistic subjects and age-, gender-, and IQ-matched controls. We report specific perturbations in brain network architecture in the salience and default-mode networks consistent with clinical manifestations of autism. Extent and distribution of the salience network, involved in social-emotional regulation of environmental stimuli, is restricted in autism. In contrast, posterior elements of the default mode network have increased spatial distribution, suggesting a ‘posteriorization’ of this network. These findings are consistent with a network-based model of autism, and suggest a unifying interpretation of previous work. Moreover, we provide evidence of specific abnormalities in brain network architecture underlying autism that are quantifiable using standard clinical MRI.
