1. Aggarwal S, Angus B. {{Misdiagnosis versus missed diagnosis: diagnosing autism spectrum disorder in adolescents}}. {Australas Psychiatry};2015 (Feb 4)
OBJECTIVE: The diagnosis of children with autism spectrum disorders (ASDs) is sometimes delayed until adolescence. This study tries to identify the symptoms in clients that initiated a referral to an autism team of an early intervention service providing psychiatric care for young people between the ages of 15 and 25 and who subsequently receive a new diagnosis of autism. METHODS: Thirty-one ASD assessments were carried out during a period of 3 years in an early intervention service in Australia. An attempt to identify the common presenting symptoms and trends in the referrals for ASD assessment within the service was made. RESULTS: Most common presentation of adolescents getting referred for ASD assessment was with depressive symptoms followed by mixed anxiety and depression and primary psychotic symptoms. There was a significant gender difference, with a higher number of males getting referred for ASD assessment. CONCLUSION: ASDs can go undetected during childhood and these clients can sometimes present during adolescence to mental health services for a psychiatric comorbidity. Regular training opportunities for clinicians dealing with them could improve the chances of ASDs being picked up during their episode of care at an early intervention service, thus optimizing their management.
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2. Crippa A, Salvatore C, Perego P, Forti S, Nobile M, Molteni M, Castiglioni I. {{Use of Machine Learning to Identify Children with Autism and Their Motor Abnormalities}}. {J Autism Dev Disord};2015 (Feb 5)
In the present work, we have undertaken a proof-of-concept study to determine whether a simple upper-limb movement could be useful to accurately classify low-functioning children with autism spectrum disorder (ASD) aged 2-4. To answer this question, we developed a supervised machine-learning method to correctly discriminate 15 preschool children with ASD from 15 typically developing children by means of kinematic analysis of a simple reach-to-drop task. Our method reached a maximum classification accuracy of 96.7 % with seven features related to the goal-oriented part of the movement. These preliminary findings offer insight into a possible motor signature of ASD that may be potentially useful in identifying a well-defined subset of patients, reducing the clinical heterogeneity within the broad behavioral phenotype.
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3. Cusack JP, Williams JH, Neri P. {{Action perception is intact in autism spectrum disorder}}. {J Neurosci};2015 (Feb 4);35(5):1849-1857.
Autistic traits span a wide spectrum of behavioral departures from typical function. Despite the heterogeneous nature of autism spectrum disorder (ASD), there have been attempts at formulating unified theoretical accounts of the associated impairments in social cognition. A class of prominent theories capitalizes on the link between social interaction and visual perception: effective interaction with others often relies on discrimination of subtle nonverbal cues. It has been proposed that individuals with ASD may rely on poorer perceptual representations of other people’s actions as returned by dysfunctional visual circuitry and that this, in turn, may lead to less effective interpretation of those actions for social behavior. It remains unclear whether such perceptual deficits exist in ASD: the evidence currently available is limited to specific aspects of action recognition, and the reported deficits are often attributable to cognitive factors that may not be strictly visual (e.g., attention). We present results from an exhaustive set of measurements spanning the entire action processing hierarchy, from motion detection to action interpretation, designed to factor out effects that are not selectively relevant to this function. Our results demonstrate that the ASD perceptual system returns functionally intact signals for interpreting other people’s actions adequately; these signals can be accessed effectively when autistic individuals are prompted and motivated to do so under controlled conditions. However, they may fail to exploit them adequately during real-life social interactions.
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4. Fairthorne J, Jacoby P, Bourke J, de Klerk N, Leonard H. {{Onset of maternal psychiatric disorders after the birth of a child with autism spectrum disorder: A retrospective cohort study}}. {Autism};2015 (Feb 4)
BACKGROUND: Mothers of a child with autism spectrum disorder have more psychiatric disorders after the birth of their child. This might be because they have more psychiatric disorders before the birth, or the increase could be related to the burden of caring for their child. AIMS: We aimed to calculate the incidence of a psychiatric diagnosis in women with no psychiatric history after the birth of their eldest child with autism spectrum disorder compared to women with no child with autism spectrum disorder or intellectual disability and no psychiatric history. METHODS: By linking datasets from Western Australian population-based registries, we calculated the incidence of a psychiatric disorder in mothers of children with autism spectrum disorder and compared to mothers of children with no autism spectrum disorder or intellectual disability. Negative binomial regression using STATA 13 was used for all analyses. RESULTS: Apart from alcohol and substance abuse, mothers of children with autism spectrum disorder had higher incidences of all categories of psychiatric disorders than other mothers. CONCLUSION AND IMPLICATIONS: The increase of psychiatric disorders in mothers of children with autism spectrum disorder and no psychiatric history compared to similar mothers with no child with autism spectrum disorder or intellectual disability might be due to a pre-existing genetic disposition coupled with an environmental trigger provided by the challenges of raising their children with autism spectrum disorder. In addition, the increased burden borne by the mothers of children with autism spectrum disorder might result in a higher incidence of psychiatric disorders in mothers who are not genetically disposed.
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5. Fellowes S. {{Did Kanner Actually Describe the First Account of Autism? The Mystery of 1938}}. {J Autism Dev Disord};2015 (Feb 5)
Kanner opens his pioneering 1943 paper on autism by making a mysterious mention of the year 1938. Recent letters to the editor of this journal have disagreed over a particular interpretation-does 1938 refer to an early paper by Asperger, effectively meaning Kanner plagiarised Asperger? I argue 1938 refers to a paper by Louise Despert. This was not plagiarism but a case of building on Despert’s ideas. Additionally, I suggest his motives for not mentioning her by name were not dishonourable.
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6. Finke EH, Hickerson B, McLaughlin E. {{Parental intention to support video game play by children with autism spectrum disorder: An application of the Theory of Planned Behavior}}. {Lang Speech Hear Serv Sch};2015 (Feb 4)
Purpose: To determine parental attitudes regarding engagement with video games by their children with ASD and whether attitudes vary based on ASD symptom severity. Method: Online survey methodology was used to gather information from parents of children with ASD between the ages of 8 and 12 years old. The finalized dataset included 152 cases. Descriptive statistics and frequency analyses were used to examine participant demographics and video game play. Descriptive and inferential statistics were used to evaluate questions on the Theory of Planned Behavior. Regression analyses determined the predictive ability of the Theory of Planned Behavior constructs, and t-tests provided additional descriptive information about between-group differences. Results: Children with ASD play video games. There are no significant differences in the time, intensity or types of games played based on severity of ASD symptoms (mild vs. moderate). Parents of children with ASD had positive attitudes about video game play. Conclusions: Parents of children with ASD appear to support video game play. On average, parents indicated video game play was positive for their children with ASD, particularly if they believed the games were having a positive impact on their child’s development.
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7. Hongkaew Y, Ngamsamut N, Puangpetch A, Vanwong N, Srisawasdi P, Chamnanphon M, Chamkrachchangpada B, Tan-Kam T, Limsila P, Sukasem C. {{Hyperprolactinemia in Thai children and adolescents with autism spectrum disorder treated with risperidone}}. {Neuropsychiatr Dis Treat};2015;11:191-196.
Hyperprolactinemia is a common adverse effect observed in children with autism spectrum disorder (ASD) during pharmacotherapy with risperidone. The main aim of this study was to investigate important clinical factors influencing the prolactin response in risperidone-treated Thai ASD. A total of 147 children and adolescents (127 males and 20 females) aged 3-19 years with ASD received risperidone treatment (0.10-6.00 mg/day) for up to 158 weeks. Prolactin levels were measured by chemiluminescence immunoassay. The clinical data of patients collected from medical records – age, weight, height, body mass index, dose of risperidone, duration of treatment, and drug-use pattern – were recorded. Hyperprolactinemia was observed in 66 of 147 (44.90%) subjects. Median prolactin level at the high doses (24.00, interquartile range [IQR] 14.30-29.20) of risperidone was significantly found to be higher than at the recommended (16.20, IQR 10.65-22.30) and low (11.70, IQR 7.51-16.50) doses of risperidone. There was no relationship between prolactin levels and duration of risperidone treatment. Dose-dependence is identified as a main factor associated with hyperprolactinemia in Thai children and adolescents with ASD treated with risperidone. This study suggests that risperidone treatment causes prolactin elevations and the effects of risperidone on prolactin are probably dose-related in pediatric patients.
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8. Mosconi MW, Mohanty S, Greene RK, Cook EH, Vaillancourt DE, Sweeney JA. {{Feedforward and feedback motor control abnormalities implicate cerebellar dysfunctions in autism spectrum disorder}}. {J Neurosci};2015 (Feb 4);35(5):2015-2025.
Sensorimotor abnormalities are common in autism spectrum disorder (ASD) and among the earliest manifestations of the disorder. They have been studied far less than the social-communication and cognitive deficits that define ASD, but a mechanistic understanding of sensorimotor abnormalities in ASD may provide key insights into the neural underpinnings of the disorder. In this human study, we examined rapid, precision grip force contractions to determine whether feedforward mechanisms supporting initial motor output before sensory feedback can be processed are disrupted in ASD. Sustained force contractions also were examined to determine whether reactive adjustments to ongoing motor behavior based on visual feedback are altered. Sustained force was studied across multiple force levels and visual gains to assess motor and visuomotor mechanisms, respectively. Primary force contractions of individuals with ASD showed greater peak rate of force increases and large transient overshoots. Individuals with ASD also showed increased sustained force variability that scaled with force level and was more severe when visual gain was highly amplified or highly degraded. When sustaining a constant force level, their reactive adjustments were more periodic than controls, and they showed increased reliance on slower feedback mechanisms. Feedforward and feedback mechanism alterations each were associated with more severe social-communication impairments in ASD. These findings implicate anterior cerebellar circuits involved in feedforward motor control and posterior cerebellar circuits involved in transforming visual feedback into precise motor adjustments in ASD.
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9. Pan Y, Chen J, Guo H, Ou J, Peng Y, Liu Q, Shen Y, Shi L, Liu Y, Xiong Z, Zhu T, Luo S, Hu Z, Zhao J, Xia K. {{Association of genetic variants of GRIN2B with autism}}. {Sci Rep};2015;5:8296.
Autism (MIM 209850) is a complex neurodevelopmental disorder characterized by social communication impairments and restricted repetitive behaviors. It has a high heritability, although much remains unclear. To evaluate genetic variants of GRIN2B in autism etiology, we performed a system association study of common and rare variants of GRIN2B and autism in cohorts from a Chinese population, involving a total sample of 1,945 subjects. Meta-analysis of a triad family cohort and a case-control cohort identified significant associations of multiple common variants and autism risk (Pmin = 1.73 x 10(-4)). Significantly, the haplotype involved with the top common variants also showed significant association (P = 1.78 x 10(-6)). Sanger sequencing of 275 probands from a triad cohort identified several variants in coding regions, including four common variants and seven rare variants. Two of the common coding variants were located in the autism-related linkage disequilibrium (LD) block, and both were significantly associated with autism (P < 9 x 10(-3)) using an independent control cohort. Burden analysis and case-only analysis of rare coding variants identified by Sanger sequencing did not find this association. Our study for the first time reveals that common variants and related haplotypes of GRIN2B are associated with autism risk.
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10. Ratni H, Rogers-Evans M, Bissantz C, Grundschober C, Moreau JL, Schuler F, Fischer H, Alvarez-Sanchez R, Schnider P. {{Discovery of highly selective brain-penetrant vasopressin 1a antagonists for the potential treatment of autism via a chemogenomic and scaffold hopping approach}}. {J Med Chem};2015 (Feb 5)
From a micromolar high throughput screening hit 7, the successful complementary application of a chemogenomic approach and of a scaffold hopping exercise led very rapidly to a low single digit nanomolar human vasopressin 1a (hV1a) receptor antagonist 38. Initial optimization of the mouse V1a activities delivered suitable tool compounds which demonstrated a V1a mediated central in vivo effect. This novel series was further optimized through parallel synthesis with a focus on balancing lipophilicity to achieve robust aqueous solubility while avoiding P-gp mediated efflux. These efforts led to the discovery of the highly potent and selective brain-penetrant hV1a antagonist RO5028442 (8) suitable for human clinical studies in people with autism.
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11. Stewart CR, Sanchez SS, Grenesko EL, Brown CM, Chen CP, Keehn B, Velasquez F, Lincoln AJ, Muller RA. {{Sensory Symptoms and Processing of Nonverbal Auditory and Visual Stimuli in Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2015 (Feb 5)
Atypical sensory responses are common in autism spectrum disorder (ASD). While evidence suggests impaired auditory-visual integration for verbal information, findings for nonverbal stimuli are inconsistent. We tested for sensory symptoms in children with ASD (using the Adolescent/Adult Sensory Profile) and examined unisensory and bisensory processing with a nonverbal auditory-visual paradigm, for which neurotypical adults show bisensory facilitation. ASD participants reported more atypical sensory symptoms overall, most prominently in the auditory modality. On the experimental task, reduced response times for bisensory compared to unisensory trials were seen in both ASD and control groups, but neither group showed significant race model violation (evidence of intermodal integration). Findings do not support impaired bisensory processing for simple nonverbal stimuli in high-functioning children with ASD.
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12. Wass SV, Jones EJ, Gliga T, Smith TJ, Charman T, Johnson MH. {{Shorter spontaneous fixation durations in infants with later emerging autism}}. {Sci Rep};2015;5:8284.
Little is known about how spontaneous attentional deployment differs on a millisecond-level scale in the early development of autism spectrum disorders (ASD). We measured fine-grained eye movement patterns in 6-to 9-month-old infants at high or low familial risk (HR/LR) of ASD while they viewed static images. We observed shorter fixation durations (i.e. the time interval between saccades) in HR than LR infants. Preliminary analyses indicate that these results were replicated in a second cohort of infants. Fixation durations were shortest in those infants who went on to receive an ASD diagnosis at 36 months. While these findings demonstrate early-developing atypicality in fine-grained measures of attentional deployment early in the etiology of ASD, the specificity of these effects to ASD remains to be determined.
