1. Assaf M, Hyatt CJ, Wong CG, Johnson MR, Schultz RT, Hendler T, Pearlson GD. {{Mentalizing and motivation neural function during social interactions in autism spectrum disorders}}. {Neuroimage Clin};2013;3:321-331.
Autism Spectrum Disorders (ASDs) are characterized by core deficits in social functions. Two theories have been suggested to explain these deficits: mind-blindness theory posits impaired mentalizing processes (i.e. decreased ability for establishing a representation of others’ state of mind), while social motivation theory proposes that diminished reward value for social information leads to reduced social attention, social interactions, and social learning. Mentalizing and motivation are integral to typical social interactions, and neuroimaging evidence points to independent brain networks that support these processes in healthy individuals. However, the simultaneous function of these networks has not been explored in individuals with ASDs. We used a social, interactive fMRI task, the Domino game, to explore mentalizing- and motivation-related brain activation during a well-defined interval where participants respond to rewards or punishments (i.e. motivation) and concurrently process information about their opponent’s potential next actions (i.e. mentalizing). Thirteen individuals with high-functioning ASDs, ages 12-24, and 14 healthy controls played fMRI Domino games against a computer-opponent and separately, what they were led to believe was a human-opponent. Results showed that while individuals with ASDs understood the game rules and played similarly to controls, they showed diminished neural activity during the human-opponent runs only (i.e. in a social context) in bilateral middle temporal gyrus (MTG) during mentalizing and right Nucleus Accumbens (NAcc) during reward-related motivation (Pcluster < 0.05 FWE). Importantly, deficits were not observed in these areas when playing against a computer-opponent or in areas related to motor and visual processes. These results demonstrate that while MTG and NAcc, which are critical structures in the mentalizing and motivation networks, respectively, activate normally in a non-social context, they fail to respond in an otherwise identical social context in ASD compared to controls. We discuss implications to both the mind-blindness and social motivation theories of ASD and the importance of social context in research and treatment protocols.
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2. Aulakh R, Tiwari A. {{Correspondence on « Children with Developmental Disabilities in India: Age of Initial Concern and Referral for Rehabilitation Services, and Reasons for Delay in Referral »}}. {J Child Neurol};2013 (Nov 21)
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3. Boulter C, Freeston M, South M, Rodgers J. {{Intolerance of Uncertainty as a Framework for Understanding Anxiety in Children and Adolescents with Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Nov 24)
Anxiety is a problem for many children diagnosed with Autism Spectrum Disorders (ASDs). There is a paucity of models of the cognitive processes underlying this. Intolerance of Uncertainty (IU) has utility in explaining anxiety in neurotypical populations but has only recently received attention in ASD. We modelled the relationship between anxiety and IU in ASD and a typically developing comparison group, using parent and child self-report measures. Results confirmed significant relationships between IU and anxiety in children with ASD which appears to function similarly in children with and without ASD. Results were consistent with a causal model suggesting that IU mediates the relationship between ASD and anxiety. The findings confirm IU as a relevant construct in ASD.
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4. Carton AM, Smith AD. {{Assessing the relationship between eating disorder psychopathology and autistic traits in a non-clinical adult population}}. {Eat Weight Disord};2013 (Nov 23)
PURPOSE: Previous research demonstrates a genetic and behavioural link between eating disorders and autism spectrum disorders, and a recent study (Coombs et al. in Br J Clin Psychol 50:326-338, 2011) extends this link to typical populations, showing a positive correlation between behaviours in typically developing children. The purpose of the present study was to examine whether this relationship continues beyond development, by studying the link between behaviours in a non-clinical adult population. METHODS: We examined associations between performance on measures relating to autistic traits and disordered eating. Undergraduate students, equally balanced by gender and by subject studied (i.e. humanity or science), completed three tasks: to measure autistic traits, participants were administered the Embedded Figures Test (EFT) and the Autism-Spectrum Quotient (AQ). Eating disorder symptomatology was measured by the Eating Attitudes Test (Eat-26). RESULTS: Our data revealed a significant positive correlation between scores on the AQ and Eat-26. Multiple linear regressions showed that higher scores on the AQ were particularly associated with higher scores on the Bulimia & Food Preoccupation subscale of the Eat-26. EFT performance was positively related to behaviours associated with autism and eating disorders, although not reliably so. CONCLUSIONS: These data support the broader link between autistic traits and disordered eating in the non-clinical population, and demonstrate that it extends into adulthood (a time at which autistic behaviours can decrease). This work carries implications for the development of cognitive therapies for people with eating disorders.
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5. d’Orsi G, Lorita La S, Specchio LM. {{Video-Polygraphy in Rett Syndrome}}. {Pediatr Neurol};2013 (Nov 20)
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6. Erickson CA, Veenstra-Vanderweele JM, Melmed RD, McCracken JT, Ginsberg LD, Sikich L, Scahill L, Cherubini M, Zarevics P, Walton-Bowen K, Carpenter RL, Bear MF, Wang PP, King BH. {{STX209 (Arbaclofen) for Autism Spectrum Disorders: An 8-Week Open-Label Study}}. {J Autism Dev Disord};2013 (Nov 23)
STX209 (arbaclofen), a selective GABA-B agonist, is hypothesized to modulate the balance of excitatory to inhibitory neurotransmission, and has shown preliminary evidence of benefit in fragile X syndrome. We evaluated its safety, tolerability, and efficacy in non-syndromic autism spectrum disorders, in an 8-week open-label trial enrolling 32 children and adolescents with either Autistic Disorder or Pervasive Developmental Disorder-Not Otherwise Specified, and a score >/=17 on the Aberrant Behavior Checklist (ABC)-Irritability subscale. STX209 was generally well-tolerated. The most common adverse events were agitation and irritability, which typically resolved without dose changes, and were often felt to represent spontaneous variation in underlying symptoms. Improvements were observed on several outcome measures in this exploratory trial, including the ABC-Irritability (the primary endpoint) and the Lethargy/Social Withdrawal subscales, the Social Responsiveness Scale, the CY-BOCS-PDD, and clinical global impression scales. Placebo-controlled study of STX209 is warranted.
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7. Faja S, Dawson G. {{Performance on the dimensional change card sort and backward digit span by young children with autism without intellectual disability}}. {Child Neuropsychol};2013 (Nov 25)
The early development of executive function (EF) and its relation to autism symptom expression is of considerable theoretical interest, particularly in children without general cognitive delay. Executive function was tested in 23 children with autism spectrum disorders (ASD) without intellectual disability and 20 age- and IQ-matched typically developing children. Even though performance was equivalent between the two groups on tests of general intelligence, flexibility in card sorting was lower for children with ASD. Verbal working memory during the backward digit span did not differ between groups. Among children with ASD, poorer performance on card sorting distinguished a subgroup with worse social-communication functioning above and beyond IQ. Controlling for IQ social and repetitive symptoms of ASD did not differ based on card sorting ability.
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8. Georgescu AL, Kuzmanovic B, Schilbach L, Tepest R, Kulbida R, Bente G, Vogeley K. {{Neural correlates of « social gaze » processing in high-functioning autism under systematic variation of gaze duration}}. {Neuroimage Clin};2013;3:340-351.
Direct gaze is a salient nonverbal signal for social interest and the intention to communicate. In particular, the duration of another’s direct gaze can modulate our perception of the social meaning of gaze cues. However, both poor eye contact and deficits in social cognitive processing of gaze are specific diagnostic features of autism. Therefore, investigating neural mechanisms of gaze may provide key insights into the neural mechanisms related to autistic symptoms. Employing functional magnetic resonance imaging (fMRI) and a parametric design, we investigated the neural correlates of the influence of gaze direction and gaze duration on person perception in individuals with high-functioning autism (HFA) and a matched control group. For this purpose, dynamically animated faces of virtual characters, displaying averted or direct gaze of different durations (1 s, 2.5 s and 4 s) were evaluated on a four-point likeability scale. Behavioral results revealed that HFA participants showed no significant difference in likeability ratings depending on gaze duration, while the control group rated the virtual characters as increasingly likeable with increasing gaze duration. On the neural level, direct gaze and increasing direct gaze duration recruit regions of the social neural network (SNN) in control participants, indicating the processing of social salience and a perceived communicative intent. In participants with HFA however, regions of the social neural network were more engaged by averted and decreasing amounts of gaze, while the neural response for processing direct gaze in HFA was not suggestive of any social information processing.
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9. Hallett V, Ronald A, Colvert E, Ames C, Woodhouse E, Lietz S, Garnett T, Gillan N, Rijsdijk F, Scahill L, Bolton P, Happe F. {{Exploring anxiety symptoms in a large-scale twin study of children with autism spectrum disorders, their co-twins and controls}}. {J Child Psychol Psychiatry};2013 (Nov);54(11):1176-1185.
BACKGROUND: Although many children with autism spectrum disorders (ASDs) experience difficulties with anxiety,the manifestation of these difficulties remains unresolved. The current study assessed anxiety in a large population based twin sample, aged 10-15 years. Phenotypic analyses were used to explore anxiety symptoms in children with ASDs, their unaffected co-twins and a control sample. METHODS: Participants included 146 families from the Twins Early Development Study (TEDS) where one or both children had a suspected ASD. Eighty control families were also included. The Revised Child Anxiety and Depression scale (Chorpita, Yim, Moffitt, Umemoto & Francis, 2000) was completed (self- and parent-report), along with diagnostic and cognitive tests. Children were categorized into four groups (a) ASD (b) Broader Autism Phenotype (BAP: mainly co-twins of children with ASDs, with high subclinical autistic traits) (c) unaffected co-twins (with neither ASDs nor BAP) (d) controls. RESULTS: Children in the ASD and BAP groups scored significantly higher than controls for all parent-rated (although not child-rated) anxiety subscales.There were no significant differences between the ASD and BAP groups for any of the parent-rated anxiety subscales. Compared with controls, unaffected co-twins showed significantly heightened Social Anxiety, Generalized Anxiety,and Panic symptoms. Significant associations were observed between certain anxiety subscales and both IQ and ASD symptoms. For example, greater parent-rated Social Anxiety was associated with higher IQ and increased social and communicative impairments. Significant interrater correlations were observed for anxiety reports in children with ASDs (r = .27-.54; p < .01), their unaffected co-twins (r = .32-.63; p < .01) and controls (r = .23-.43; p < .01)suggesting that children in this sample with and without ASD symptoms were able to report on their anxiety symptoms with some accuracy. CONCLUSIONS: These findings support previous reports of heightened anxiety in children with ASDs, at least on parent-reported measures. Unaffected co-twins of children with ASDs also showed increased anxiety, generating questions about the potential etiological overlap between ASDs and anxiety. Progress in this area now depends on more refined anxiety measurement in ASDs and continued investigation of interrater differences.
10. Huke V, Turk J, Saeidi S, Kent A, Morgan JF. {{The Clinical Implications of High Levels of Autism Spectrum Disorder Features in Anorexia Nervosa: A Pilot Study}}. {Eur Eat Disord Rev};2013 (Nov 26)
OBJECTIVE: This study examined autism spectrum disorder (ASD) features in relation to treatment completion and eating disorder psychopathology in anorexia nervosa (AN). METHOD: Thirty-two adult women were recruited from specialist eating disorder services. Features of ASD and disordered eating were measured. Premature termination of treatment was recorded to explore whether ASD traits had impact on early discharge. A healthy control group was also recruited to investigate ASD traits between clinical and nonclinical samples. RESULTS: Significant differences were found between the AN group and the healthy control group in obsessive-compulsive disorder traits, depression and anxiety and ASD traits, with significant differences between groups in Social Skill and Attention Switching. The AN group reported no significant relationship between disordered eating severity and ASD traits. No significant effect was found between ASD features and treatment completion. DISCUSSION: Raw data on premature termination of treatment, despite no statistic impact, showed that seven out of the eight participants with high features of ASD completed treatment as planned compared with 50% of those with low ASD traits. Unexpectedly, this suggests enhanced treatment adherence in ASD. Copyright (c) 2013 John Wiley & Sons, Ltd and Eating Disorders Association.
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11. Matson JL, Williams LW. {{The making of a field: The development of comorbid psychopathology research for persons with intellectual disabilities and autism}}. {Res Dev Disabil};2013 (Oct 23)
Knowledge in the area of developmental disabilities has been expanding rapidly. One area that has received particular attention is the topic of related comorbid conditions. This phenomenon is not exclusive to the field of developmental disabilities. However, research with this population is of recent origin. The purpose of this paper is to review the origins of this field including some of the notable developments and potential future trends.
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12. Parikshak NN, Luo R, Zhang A, Won H, Lowe JK, Chandran V, Horvath S, Geschwind DH. {{Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism}}. {Cell};2013 (Nov 21);155(5):1008-1021.
Genetic studies have identified dozens of autism spectrum disorder (ASD) susceptibility genes, raising two critical questions: (1) do these genetic loci converge on specific biological processes, and (2) where does the phenotypic specificity of ASD arise, given its genetic overlap with intellectual disability (ID)? To address this, we mapped ASD and ID risk genes onto coexpression networks representing developmental trajectories and transcriptional profiles representing fetal and adult cortical laminae. ASD genes tightly coalesce in modules that implicate distinct biological functions during human cortical development, including early transcriptional regulation and synaptic development. Bioinformatic analyses suggest that translational regulation by FMRP and transcriptional coregulation by common transcription factors connect these processes. At a circuit level, ASD genes are enriched in superficial cortical layers and glutamatergic projection neurons. Furthermore, we show that the patterns of ASD and ID risk genes are distinct, providing a biological framework for further investigating the pathophysiology of ASD.
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13. Peeva MG, Tourville JA, Agam Y, Holland B, Manoach DS, Guenther FH. {{White matter impairment in the speech network of individuals with autism spectrum disorder}}. {Neuroimage Clin};2013;3:234-241.
Impairments in language and communication are core features of Autism Spectrum Disorder (ASD), and a substantial percentage of children with ASD do not develop speech. ASD is often characterized as a disorder of brain connectivity, and a number of studies have identified white matter impairments in affected individuals. The current study investigated white matter integrity in the speech network of high-functioning adults with ASD. Diffusion tensor imaging (DTI) scans were collected from 18 participants with ASD and 18 neurotypical participants. Probabilistic tractography was used to estimate the connection strength between ventral premotor cortex (vPMC), a cortical region responsible for speech motor planning, and five other cortical regions in the network of areas involved in speech production. We found a weaker connection between the left vPMC and the supplementary motor area in the ASD group. This pathway has been hypothesized to underlie the initiation of speech motor programs. Our results indicate that a key pathway in the speech production network is impaired in ASD, and that this impairment can occur even in the presence of normal language abilities. Therapies that result in normalization of this pathway may hold particular promise for improving speech output in ASD.
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14. Rutishauser U, Tudusciuc O, Wang S, Mamelak AN, Ross IB, Adolphs R. {{Single-neuron correlates of atypical face processing in autism}}. {Neuron};2013 (Nov 20);80(4):887-899.
People with autism spectrum disorder (ASD) show abnormal processing of faces. A range of morphometric, histological, and neuroimaging studies suggest the hypothesis that this abnormality may be linked to the amygdala. We recorded data from single neurons within the amygdalae of two rare neurosurgical patients with ASD. While basic electrophysiological response parameters were normal, there were specific and striking abnormalities in how individual facial features drove neuronal response. Compared to control patients, a population of neurons in the two ASD patients responded significantly more to the mouth, but less to the eyes. Moreover, we found a second class of face-responsive neurons for which responses to faces appeared normal. The findings confirm the amygdala’s pivotal role in abnormal face processing by people with ASD at the cellular level and suggest that dysfunction may be traced to a specific subpopulation of neurons with altered selectivity for the features of faces.
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15. Salmi J, Roine U, Glerean E, Lahnakoski J, Nieminen-von Wendt T, Tani P, Leppamaki S, Nummenmaa L, Jaaskelainen IP, Carlson S, Rintahaka P, Sams M. {{The brains of high functioning autistic individuals do not synchronize with those of others}}. {Neuroimage Clin};2013;3:489-497.
Multifaceted and idiosyncratic aberrancies in social cognition characterize autism spectrum disorders (ASDs). To advance understanding of underlying neural mechanisms, we measured brain hemodynamic activity with functional magnetic resonance imaging (fMRI) in individuals with ASD and matched-pair neurotypical (NT) controls while they were viewing a feature film portraying social interactions. Pearson’s correlation coefficient was used as a measure of voxelwise similarity of brain activity (InterSubject Correlations-ISCs). Individuals with ASD showed lower ISC than NT controls in brain regions implicated in processing social information including the insula, posterior and anterior cingulate cortex, caudate nucleus, precuneus, lateral occipital cortex, and supramarginal gyrus. Curiously, also within NT group, autism-quotient scores predicted ISC in overlapping areas, including, e.g., supramarginal gyrus and precuneus. In ASD participants, functional connectivity was decreased between the frontal pole and the superior frontal gyrus, angular gyrus, superior parietal lobule, precentral gyrus, precuneus, and anterior/posterior cingulate gyrus. Taken together these results suggest that ISC and functional connectivity measure distinct features of atypical brain function in high-functioning autistic individuals during free viewing of acted social interactions. Our ISC results suggest that the minds of ASD individuals do not ‘tick together’ with others while perceiving identical dynamic social interactions.
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16. Sarajlija A, Djuric M, Tepavcevic DK. {{Health-related quality of life and depression in Rett syndrome caregivers}}. {Vojnosanit Pregl};2013 (Sep);70(9):842-847.
BACKGROUND/AIM: Rett syndrome (RTT) is a severe neurodevelopmental disorder primarily affecting females with an estimated incidence of 1:10,000-15,000 female births. Currently, there is no specific treatment that halts or reverses the progression of RTT. Therefore, management was mainly symptomatic, focussed on optimising patient’s abilities. The aim of this study was to investigate factors influencing health-related quality of life (HRQoL) and depression in mothers who care for children with Rett syndrome (RTT) in Serbia. METHODS: The cross-sectional study was conducted on 49 mothers giving care to females with RTT. Caregivers » HRQoL was assessed by using the SF-36 questionnaire. Clinical severity score (CSS) of RTT patients and Beck Depression Inventory II (BDI -II) scale were used to quantify RTT severity and mothers’ depression, respectively. Statistical assessment included descriptive statistics, t-test, Pearson correlation coefficient and multiple logistic regression. RESULTS: The age of mothers ranged from 22 to 55 years and of their affected children from 3 to 29 years. Severe depression was observed in 15 (30.6%) participants. CSS and BDI-II scores correlated negatively with all SF-36 domains and composite scores. Lowest scoring domains of HRQoL in mothers giving care to RTT children were mental health, vitality and role functioning emotional. Multiple linear regression analysis revealed that severity of RTT patients’ disability (CSS) and caregivers’ age are factors with strongest influence to HRQoL and depression in care giving mothers. CONCLUSION: Mothers giving care to children with RTT are at high risk of severe depression and lower HRQoL scores of domains that reflect mental well-being. Results of this study can help in planning subsequent interventions directed at families dealing with Rett syndrome.
17. Schreibman L, Stahmer AC. {{A Randomized Trial Comparison of the Effects of Verbal and Pictorial Naturalistic Communication Strategies on Spoken Language for Young Children with Autism}}. {J Autism Dev Disord};2013 (Nov 23)
Presently there is no consensus on the specific behavioral treatment of choice for targeting language in young nonverbal children with autism. This randomized clinical trial compared the effectiveness of a verbally-based intervention, Pivotal Response Training (PRT) to a pictorially-based behavioral intervention, the Picture Exchange Communication System (PECS) on the acquisition of spoken language by young (2-4 years), nonverbal or minimally verbal (</=9 words) children with autism. Thirty-nine children were randomly assigned to either the PRT or PECS condition. Participants received on average 247 h of intervention across 23 weeks. Dependent measures included overall communication, expressive vocabulary, pictorial communication and parent satisfaction. Children in both intervention groups demonstrated increases in spoken language skills, with no significant difference between the two conditions. Seventy-eight percent of all children exited the program with more than 10 functional words. Parents were very satisfied with both programs but indicated PECS was more difficult to implement.
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18. Senju A, Kikuchi Y, Akechi H, Hasegawa T, Tojo Y, Osanai H, Johnson MH. {{Atypical modulation of face-elicited saccades in autism spectrum disorder in a double-step saccade paradigm}}. {Res Autism Spectr Disord};2011 (Jul 1);5(3)
Atypical development of face processing is a major characteristic in autism spectrum disorder (ASD), which could be due to atypical interactions between subcortical and cortical face processing. The current study investigated the saccade planning towards faces in ASD. Seventeen children with ASD and 17 typically developing (TD) children observed a pair of upright or inverted face configurations flashed sequentially in two different spatial positions. The reactive saccades of participants were recorded by eye-tracking. The results did not provide evidence of overall impairment of subcortical route in ASD, However, the upright, but not the inverted, face configuration modulated the frequency of vector sum saccades (an index of subcortical control) in TD, but not in ASD. The current results suggests that children with ASD do not have overall impairment of the subcortital route, but the subcortical route may not be specialized to face processing.
19. Travers BG, Bigler ED, Tromp DP, Adluru N, Froehlich AL, Ennis C, Lange N, Nielsen JA, Prigge MB, Alexander AL, Lainhart JE. {{Longitudinal Processing Speed Impairments in Males with Autism and the Effects of White Matter Microstructure}}. {Neuropsychologia};2013 (Nov 21)
The present study used an accelerated longitudinal design to examine group differences and age-related changes in processing speed in 81 individuals with Autism Spectrum Disorder (ASD) compared to 56 age-matched individuals with typical development (ages 6-39 years). Processing speed was assessed using the Wechsler Intelligence Scale for Children-3rd edition (WISC-III) and the Wechsler Adult Intelligence Scale-3rd edition (WAIS-III). Follow-up analyses examined processing speed subtest performance and relations between processing speed and white matter microstructure (as measured with diffusion tensor imaging [DTI] in a subset of these participants). After controlling for full scale IQ, the present results show that processing speed index standard scores were on average 12 points lower in the group with ASD compared to the group with typical development. There were, however, no significant group differences in standard score age-related changes within this age range. For subtest raw scores, the group with ASD demonstrated robustly slower processing speeds in the adult versions of the IQ test (i.e., WAIS-III) but not in the child versions (WISC-III), even though age-related changes were similar in both the ASD and typically developing groups. This pattern of results may reflect difficulties that become increasingly evident in ASD on more complex measures of processing speed. Finally, DTI measures of whole-brain white matter microstructure suggested that fractional anisotropy (but not mean diffusivity, radial diffusivity, or axial diffusivity) made significant but small-sized contributions to processing speed standard scores across our entire sample. Taken together, the present findings suggest that robust decreases in processing speed may be present in ASD, more pronounced in adulthood, and partially attributable to white matter microstructural integrity.
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20. Willsey AJ, Sanders SJ, Li M, Dong S, Tebbenkamp AT, Muhle RA, Reilly SK, Lin L, Fertuzinhos S, Miller JA, Murtha MT, Bichsel C, Niu W, Cotney J, Ercan-Sencicek AG, Gockley J, Gupta AR, Han W, He X, Hoffman EJ, Klei L, Lei J, Liu W, Liu L, Lu C, Xu X, Zhu Y, Mane SM, Lein ES, Wei L, Noonan JP, Roeder K, Devlin B, Sestan N, State MW. {{Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism}}. {Cell};2013 (Nov 21);155(5):997-1007.
Autism spectrum disorder (ASD) is a complex developmental syndrome of unknown etiology. Recent studies employing exome- and genome-wide sequencing have identified nine high-confidence ASD (hcASD) genes. Working from the hypothesis that ASD-associated mutations in these biologically pleiotropic genes will disrupt intersecting developmental processes to contribute to a common phenotype, we have attempted to identify time periods, brain regions, and cell types in which these genes converge. We have constructed coexpression networks based on the hcASD « seed » genes, leveraging a rich expression data set encompassing multiple human brain regions across human development and into adulthood. By assessing enrichment of an independent set of probable ASD (pASD) genes, derived from the same sequencing studies, we demonstrate a key point of convergence in midfetal layer 5/6 cortical projection neurons. This approach informs when, where, and in what cell types mutations in these specific genes may be productively studied to clarify ASD pathophysiology.
