1. Al-Farsi YM, Waly MI, Al-Sharbati MM, Al-Shafaee M, Al-Farsi O, Al-Fahdi S, Ouhtit A, Al-Khaduri M, Al-Adawi S. {{Variation in socio-economic burden for caring of children with autism spectrum disorder in oman: caregiver perspectives}}. {J Autism Dev Disord};2013 (May);43(5):1214-1221.
A cross-sectional study was conducted to investigate whether caregiver’s variations in socioeconomic status (SES) has direct bearing on challenges of nurturing children with autism spectrum disorder (ASD) in Oman. A cadre of caregivers (n = 150) from two types of SES (low-income and middle-high income) were compared based on four domains: (1) accessing and perception of remedial services, (2) utilization and perception of psychiatric services, (3) constraints for being a caregiver of children with ASD and (4) financial expenses of taking care of children with ASD. There is little indication that any particular SES fare well on these domains. Factors to mitigate such predicaments are therefore imperative in order to improve quality of life for caregivers among children with ASD.
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2. Anitha A, Nakamura K, Thanseem I, Matsuzaki H, Miyachi T, Tsujii M, Iwata Y, Suzuki K, Sugiyama T, Mori N. {{Downregulation of the expression of mitochondrial electron transport complex genes in autism brains}}. {Brain Pathol};2013 (May);23(3):294-302.
Mitochondrial dysfunction (MtD) and abnormal brain bioenergetics have been implicated in autism, suggesting possible candidate genes in the electron transport chain (ETC). We compared the expression of 84 ETC genes in the post-mortem brains of autism patients and controls. Brain tissues from the anterior cingulate gyrus, motor cortex, and thalamus of autism patients (n = 8) and controls (n = 10) were obtained from Autism Tissue Program, USA. Quantitative real-time PCR arrays were used to quantify gene expression. We observed reduced expression of several ETC genes in autism brains compared to controls. Eleven genes of Complex I, five genes each of Complex III and Complex IV, and seven genes of Complex V showed brain region-specific reduced expression in autism. ATP5A1 (Complex V), ATP5G3 (Complex V) and NDUFA5 (Complex I) showed consistently reduced expression in all the brain regions of autism patients. Upon silencing ATP5A1, the expression of mitogen-activated protein kinase 13 (MAPK13), a p38 MAPK responsive to stress stimuli, was upregulated in HEK 293 cells. This could have been induced by oxidative stress due to impaired ATP synthesis. We report new candidate genes involved in abnormal brain bioenergetics in autism, supporting the hypothesis that mitochondria, critical for neurodevelopment, may play a role in autism.
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3. Anitha A, Thanseem I, Nakamura K, Yamada K, Iwayama Y, Toyota T, Iwata Y, Suzuki K, Sugiyama T, Tsujii M, Yoshikawa T, Mori N. {{Protocadherin alpha (PCDHA) as a novel susceptibility gene for autism}}. {J Psychiatry Neurosci};2013 (May);38(3):192-198.
Background: Synaptic dysfunction has been shown to be involved in the pathogenesis of autism. We hypothesized that the protocadherin alpha gene cluster (PCDHA), which is involved in synaptic specificity and in serotonergic innervation of the brain, could be a suitable candidate gene for autism. Methods: We examined 14 PCDHA single nucleotide polymorphisms (SNPs) for genetic association with autism in DNA samples of 3211 individuals (841 families, including 574 multiplex families) obtained from the Autism Genetic Resource Exchange. Results: Five SNPs (rs251379, rs1119032, rs17119271, rs155806 and rs17119346) showed significant associations with autism. The strongest association (p < 0.001) was observed for rs1119032 (z score of risk allele G = 3.415) in multiplex families; SNP associations withstand multiple testing correction in multiplex families (p = 0.041). Haplotypes involving rs1119032 showed very strong associations with autism, withstanding multiple testing corrections. In quantitative transmission disequilibrium testing of multiplex fam – ilies, the G allele of rs1119032 showed a significant association (p = 0.033) with scores on the Autism Diagnostic Interview-Revised (ADI-R)_D (early developmental abnormalities). We also found a significant difference in the distribution of ADI-R_A (social interaction) scores between the A/A, A/G and G/G genotypes of rs17119346 (p = 0.002). Limitations: Our results should be replicated in an in – dependent population and/or in samples of different racial backgrounds. Conclusion: Our study provides strong genetic evidence of PCDHA as a potential candidate gene for autism.
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4. Baranek GT, Watson LR, Boyd BA, Poe MD, David FJ, McGuire L. {{Hyporesponsiveness to social and nonsocial sensory stimuli in children with autism, children with developmental delays, and typically developing children}}. {Dev Psychopathol};2013 (May);25(2):307-320.
This cross-sectional study seeks to (a) describe developmental correlates of sensory hyporesponsiveness to social and nonsocial stimuli, (b) determine whether hyporesponsiveness is generalized across contexts in children with autism relative to controls, and (c) test the associations between hyporesponsiveness and social communication outcomes. Three groups of children ages 11-105 months (N = 178; autism = 63, developmental delay = 47, typical development = 68) are given developmental and sensory measures including a behavioral orienting task (the Sensory Processing Assessment). Lab measures are significantly correlated with parental reports of sensory hyporesponsiveness. Censored regression models show that hyporesponsiveness decreased across groups with increasing mental age (MA). Group differences are significant but depend upon two-way interactions with MA and context (social and nonsocial). At a very young MA (e.g., 6 months), the autism group demonstrates more hyporesponsiveness to social and nonsocial stimuli (with larger effects for social) than developmental delay and typically developing groups, but at an older MA (e.g., 60 months) there are no significant differences. Hyporesponsiveness to social and nonsocial stimuli predicts lower levels of joint attention and language in children with autism. Generalized processes in attention disengagement and behavioral orienting may have relevance for identifying early risk factors of autism and for facilitating learning across contexts to support the development of joint attention and language.
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5. Barton ML, Robins DL, Jashar D, Brennan L, Fein D. {{Sensitivity and Specificity of Proposed DSM-5 Criteria for Autism Spectrum Disorder in Toddlers}}. {J Autism Dev Disord};2013 (May);43(5):1184-1195.
Autism spectrum disorder (ASD) diagnosis is based on behavioral presentation; changes in conceptual models or defining behaviors may significantly impact diagnosis and uptake of ASD-specific interventions. The literature examining impact of DSM-5 criteria is equivocal. Toddlers may be especially vulnerable to the stringent requirements of impairment in all three social-communication symptoms and two restricted/repetitive symptoms. Receiver operating characteristic (ROC) curves identified optimal cutoffs for sums of ADOS and ADI-R criteria mapped to each criterion for 422 toddlers. The optimal modification of DSM-5 criteria (sensitivity = 0.93, specificity = 0.74) required meeting the ROC-determined cutoffs for 2/3 Domain A criteria and 1 point for 1/4 Domain B criteria. This modification will help insure that ASD is identified accurately in young children, facilitating ASD-specific early intervention.
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6. Begeer S, Mandell D, Wijnker-Holmes B, Venderbosch S, Rem D, Stekelenburg F, Koot HM. {{Sex differences in the timing of identification among children and adults with autism spectrum disorders}}. {J Autism Dev Disord};2013 (May);43(5):1151-1156.
To examine differences by sex in the timing of identification of individuals with autism spectrum disorders (ASD), survey data were collected in the Netherlands from 2,275 males and females with autistic disorder, Asperger’s syndrome and PDD-NOS. Among participants <18 years of age, females with Asperger’s syndrome were identified later than males. Among participants >/=18 years of age, females with autistic disorder were identified later than males. In more recent years, girls with Asperger’s syndrome are diagnosed later than boys, confirming earlier findings. In adults, the delayed timing of diagnosis in females with autistic disorder may be related to changing practices in diagnosis over time. Strategies for changing clinician behaviour to improve recognition of ASD in females are needed.
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7. Bhatti I, Thome A, Smith PO, Cook-Wiens G, Yeh HW, Gaffney GR, Hellings JA. {{A retrospective study of amitriptyline in youth with autism spectrum disorders}}. {J Autism Dev Disord};2013 (May);43(5):1017-1027.
We performed a retrospective chart review of 50 youths with Autism Spectrum Disorder (ASD), prescribed amitriptyline (AMI) for hyperactivity and impulsivity. Data was systematically extracted from 50 outpatient clinic charts, including AMI treatment duration, dose, trough levels and adverse events. Mean age was 9.4 years (4.6-17.9); 40 were males and 10 females. 30 % had failed atomoxetine and 40 % had failed >/=3 ADHD medications. Mean dose was 1.3 +/- 0.6 mg/kg/day, mean trough level 114.1 +/- 50.5 ng/ml, mean duration 3.4 years. Clinical Global Impressions Scale-Improvement (CGI-I) was </=2 in 60 % of patients at the final visit, and in 82 % of patients for at least 50 % of follow-ups. Cautious use of low dose AMI shows promise for treatment-resistant youth with ASD accompanied by hyperactivity, impulsivity, aggression and self injury.
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8. Bilder D, Botts EL, Smith KR, Pimentel R, Farley M, Viskochil J, McMahon WM, Block H, Ritvo E, Ritvo RA, Coon H. {{Excess Mortality and Causes of Death in Autism Spectrum Disorders: A Follow up of the 1980s Utah/UCLA Autism Epidemiologic Study}}. {J Autism Dev Disord};2013 (May);43(5):1196-1204.
This study’s purpose was to investigate mortality among individuals with autism spectrum disorders (ASD) ascertained during a 1980s statewide autism prevalence study (n = 305) in relation to controls. Twenty-nine of these individuals (9.5 %) died by the time of follow up, representing a hazard rate ratio of 9.9 (95 % CI 5.7-17.2) in relation to population controls. Death certificates identified respiratory, cardiac, and epileptic events as the most common causes of death. The elevated mortality risk associated with ASD in the study cohort appeared related to the presence of comorbid medical conditions and intellectual disability rather than ASD itself suggesting the importance of coordinated medical care for this high risk sub-population of individuals with ASD.
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9. Bortolato M, Godar SC, Alzghoul L, Zhang J, Darling RD, Simpson KL, Bini V, Chen K, Wellman CL, Lin RC, Shih JC. {{Monoamine oxidase A and A/B knockout mice display autistic-like features}}. {Int J Neuropsychopharmacol};2013 (May);16(4):869-888.
Converging lines of evidence show that a sizable subset of autism-spectrum disorders (ASDs) is characterized by increased blood levels of serotonin (5-hydroxytryptamine, 5-HT), yet the mechanistic link between these two phenomena remains unclear. The enzymatic degradation of brain 5-HT is mainly mediated by monoamine oxidase (MAO)A and, in the absence of this enzyme, by its cognate isoenzyme MAOB. MAOA and A/B knockout (KO) mice display high 5-HT levels, particularly during early developmental stages. Here we show that both mutant lines exhibit numerous behavioural hallmarks of ASDs, such as social and communication impairments, perseverative and stereotypical responses, behavioural inflexibility, as well as subtle tactile and motor deficits. Furthermore, both MAOA and A/B KO mice displayed neuropathological alterations reminiscent of typical ASD features, including reduced thickness of the corpus callosum, increased dendritic arborization of pyramidal neurons in the prefrontal cortex and disrupted microarchitecture of the cerebellum. The severity of repetitive responses and neuropathological aberrances was generally greater in MAOA/B KO animals. These findings suggest that the neurochemical imbalances induced by MAOA deficiency (either by itself or in conjunction with lack of MAOB) may result in an array of abnormalities similar to those observed in ASDs. Thus, MAOA and A/B KO mice may afford valuable models to help elucidate the neurobiological bases of these disorders and related neurodevelopmental problems.
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10. Carter M, Scherer S. {{Autism spectrum disorder in the genetics clinic: a review}}. {Clin Genet};2013 (May);83(5):399-407.
Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders affecting social communication, language and behavior. The underlying cause(s) in a given individual is often elusive, with the exception of clinically recognizable genetic syndromes with readily available molecular diagnosis, such as fragile X syndrome. Clinical geneticists approach patients with ASDs by ruling out known genetic and genomic syndromes, leaving more than 80% of families without a definitive diagnosis and an uncertain risk of recurrence. Advances in microarray technology and next-generation sequencing are revealing rare variants in genes with important roles in synapse formation, function and maintenance. This review will focus on the clinical approach to ASDs, given the current state of knowledge about their complex genetic architecture.
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11. Centelles L, Assaiante C, Etchegoyhen K, Bouvard M, Schmitz C. {{From action to interaction: exploring the contribution of body motion cues to social understanding in typical development and in autism spectrum disorders}}. {J Autism Dev Disord};2013 (May);43(5):1140-1150.
Two studies investigated whether typically developing children (TD) and children with autism spectrum disorders (ASD) were able to decide whether two characters were communicating or not on the basis of point-light displays. Point-lights portrayed actors engaged or not in a social interaction. In study 1, TD children (4-10 years old; n = 36) grasped social intentions from body language, with a notable improvement around 7/8. In study 2, children with ASD (6-12 years old; n = 12) could categorize the point-light displays at above-chance levels, but performed less efficiently, especially for the social interaction displays, than TD children (matched to chronological and non-verbal mental age, 6-12 years old; n = 24). An action representation deficit is discussed in relation to a social representation deficit and it is suggested that these deficits might be linked to altered maturational process of the mirror system in ASD.
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12. Chiang CH, Wu CC, Hou YM, Chu CL, Liu JH, Soong WT. {{Development of T-STAT for Early Autism Screening}}. {J Autism Dev Disord};2013 (May);43(5):1028-1037.
This study’s purpose was to modify the Screening Tool for Autism in Two-Year-Olds (STAT) into a Taiwanese version called T-STAT. Study 1 included 15 children with Autism and 15 children with Developmental Delay (DD) or language impairment (LI) aged between 24 and 35 months. Study 2 had 77 young children with Autism, PDD-NOS, or DD/LI as a clinical-based validation sample. In Study 1, the signal detection procedure found that a cutoff score of 2 would yield high sensitivity and specificity in T-STAT. In Study 2, using a score of 2 as a cutoff, the agreement between T-STAT risk and ADOS classification was highly acceptable. Results were promising as a Level 2 screening tool for Autism for ages two to three.
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13. Chin RY, Moran T, Fenton JE. {{The otological manifestations associated with autistic spectrum disorders}}. {Int J Pediatr Otorhinolaryngol};2013 (May);77(5):629-634.
OBJECTIVES: To elucidate the otological manifestations found in this increasingly commonly diagnosed condition. This paper will discuss the diagnosis, aetiology, pathogenesis, management and the outcomes of treatment. STUDY DESIGN: Systematic literature review. MATERIALS AND METHODS: The following databases were searched for articles pertaining to the otological manifestations of autistic spectrum disorders: MEDLINE, EMBASE, CURRENT CONTENTS, PSYCHLIT, CINAHL and HEALTHSTAR. Articles from 1965 to June 2012 were extracted. Relevant articles from the literature were selected and reviewed by two independent authors. Each paper was assessed as to its level of evidence and validity. The relevant results are presented and discussed in order to present a practical approach to the management of these patients. RESULTS: Patients with ASD have an increased incidence of peripheral and central otological pathology. This pathology plays a key role in the behavioural, communication, and social aspects of the disease. ASD patients have a higher incidence of profound sensorineural hearing loss, middle ear infections, and abnormalities of the cochlear nerve and brainstem auditory pathways. There are cortical and brainstem neurodevelopmental abnormalities in the way auditory information is interpreted and processed in the ASD patient. CONCLUSIONS: The otolaryngologist plays a key role in the multidisciplinary management of individuals with ASD due to the high prevalence of otological pathology amongst these patients. Early diagnosis and expedient treatment focusing on normalisation of auditory input and development can maximise developmental outcomes.
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14. Cobigo V, Ouellette-Kuntz H, Balogh R, Leung F, Lin E, Lunsky Y. {{Are cervical and breast cancer screening programmes equitable? The case of women with intellectual and developmental disabilities}}. {J Intellect Disabil Res};2013 (May);57(5):478-488.
BACKGROUND: Effective cancer screening must be available for all eligible individuals without discrimination. Lower rates of cervical and breast cancer screening have been reported in certain groups compared with women from the general population, such as women with intellectual and developmental disabilities (IDD). Research on the factors explaining those observed differences is crucial to determine whether practices are unfair and could be improved. The aim of this population-based study was to describe cancer screening utilisation by women with IDD in Ontario, Canada compared with other women in Ontario. The specific objectives were (1) to estimate the rates of cervical and breast cancer screening among eligible women with IDD in Ontario; (2) to compare the rates of cervical and breast cancer screening between eligible women with and without IDD; and (3) to examine if any observed differences between women with and without IDD persist after factors such as age, socio-economic status, rurality and healthcare utilisation are accounted for. METHOD: This study draws women with IDD from an entire population, and draws a randomly selected comparison group from the same population. It controls for important confounders in cancer screening within the limitations of the data sources. The study was conducted using health administrative databases and registries in Ontario, Canada. Two cohorts were created: a cohort of all women identified as having an IDD and a cohort consisting of a random sample of 20% of the women without IDD. RESULTS: The proportion of women with IDD who are not screened for cervical cancer is nearly twice what it is in the women without IDD, and 1.5 times what it is for mammography. CONCLUSIONS: Findings suggest that women with IDD experience inequities in their access to cancer screening. Public health interventions targeting this population should be implemented.
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15. Cooper NR, Simpson A, Till A, Simmons K, Puzzo I. {{Beta event-related desynchronization as an index of individual differences in processing human facial expression: further investigations of autistic traits in typically developing adults}}. {Front Hum Neurosci};2013;7:159.
The human mirror neuron system (hMNS) has been associated with various forms of social cognition and affective processing including vicarious experience. It has also been proposed that a faulty hMNS may underlie some of the deficits seen in the autism spectrum disorders (ASDs). In the present study we set out to investigate whether emotional facial expressions could modulate a putative EEG index of hMNS activation (mu suppression) and if so, would this differ according to the individual level of autistic traits [high versus low Autism Spectrum Quotient (AQ) score]. Participants were presented with 3 s films of actors opening and closing their hands (classic hMNS mu-suppression protocol) while simultaneously wearing happy, angry, or neutral expressions. Mu-suppression was measured in the alpha and low beta bands. The low AQ group displayed greater low beta event-related desynchronization (ERD) to both angry and neutral expressions. The high AQ group displayed greater low beta ERD to angry than to happy expressions. There was also significantly more low beta ERD to happy faces for the low than for the high AQ group. In conclusion, an interesting interaction between AQ group and emotional expression revealed that hMNS activation can be modulated by emotional facial expressions and that this is differentiated according to individual differences in the level of autistic traits. The EEG index of hMNS activation (mu suppression) seems to be a sensitive measure of the variability in facial processing in typically developing individuals with high and low self-reported traits of autism.
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16. Cornish K, Cole V, Longhi E, Karmiloff-Smith A, Scerif G. {{Mapping developmental trajectories of attention and working memory in fragile X syndrome: Developmental freeze or developmental change?}}. {Dev Psychopathol};2013 (May);25(2):365-376.
Fragile X syndrome (FXS) has a characteristic cognitive « signature » that by late childhood includes core weaknesses in attention and working memory (WM), but their earlier developmental trajectories remain uncharted. Using a combined cross-sectional and prospective longitudinal design, we tested whether early profiles of attention and WM impairment in FXS indicate developmental freeze or developmental change. In Study 1, 26 young boys with FXS and 55 typically developing (TD) boys completed two experimental paradigms designed to assess cognitive aspects of attention and WM, in addition to behavioral indices of inattention and hyperactivity. Study 2 mapped longitudinal changes in 21 children with FXS and 21 TD children. In Study 1, significant weaknesses emerged for boys with FXS, with no substantial improvement over chronological age. Mapping performance against mental age level revealed delay, but it also yielded a similar attention and WM profile to TD boys. In Study 2, longitudinal improvements for boys with FXS paralleled those in TD children. In conclusion, cognitive attention and WM, although delayed in FXS, reveal developmental change, rather than « arrest. » Our findings underscore the need for going beyond cross-sectional group comparisons and gross behavioral indices to map cognitive changes longitudinally in developmental disorders.
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17. Daprati E, Nico D, Delorme R, Leboyer M, Zalla T. {{Memory for past events: movement and action chains in high-functioning autism spectrum disorders}}. {Exp Brain Res};2013 (May);226(3):325-334.
In the present study, we assessed whether individuals with autism spectrum disorders (ASD) show memory impairments for previously performed actions, as previously suggested for people suffering from obsessive-compulsive disorder (OCD) (Ecker and Engelkamp in Behav Cogn Psychother 23:349-371, 1995; Merckelbach and Wessel in J Nerv Ment Dis 188(12):846-848, 2000). To test this possibility, we explored verbal memory for actions in individuals with a diagnosis of ASD, with and without co-morbidity for OCD, and in controls matched for age and gender. Participants observed or observed and enacted a number of actions while listening to the corresponding phrases being spoken. After a suitable delay, they were submitted to an old/new recognition task. Results showed that ASD individuals with OCD were less accurate and slower in responding compared to ASD individuals without OCD and controls, particularly when dealing with phrases describing simple movements. In contrast, ASD participants without OCD were more impaired when phrases described complex actions that involved pantomiming object use or coordinating movements of multiple body parts. These findings are discussed in terms of differential organization of the motor trace for simple versus complex actions in ASD individuals according to the concurrent presence of OCD.
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18. Dawson G. {{Early intensive behavioral intervention appears beneficial for young children with autism spectrum disorders}}. {J Pediatr};2013 (May);162(5):1080-1081.
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19. Dawson G. {{Review: more RCTs on early intensive behavioural intervention for young children with autism spectrum disorders needed}}. {Evid Based Ment Health};2013 (May);16(2):45.
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20. De Filippis B, Ricceri L, Fuso A, Laviola G. {{Neonatal exposure to low dose corticosterone persistently modulates hippocampal mineralocorticoid receptor expression and improves locomotor/exploratory behaviour in a mouse model of Rett syndrome}}. {Neuropharmacology};2013 (May);68:174-183.
Rett syndrome (RTT) is a pervasive neurodevelopmental disorder, primarily affecting girls. RTT causes a wide variety of debilitating symptoms and no cure currently exists. Mouse models bearing mutations in the Mecp2 gene recapitulate most physiological and behavioural RTT-related abnormalities. Stimulating neonatal environments (e.g. brief maternal separations or maternal low-dose corticosterone supplementation) reduce stress and fear responses at adulthood. The present study investigated whether impacting early in development the hypothalamic-pituitary-adrenal axis, by exposing Mecp2-308 mutant pups to a low dose of corticosterone (50 microg/ml, during the 1st week of life) may contrast RTT-related abnormalities in neuroendocrine regulation and behavioural adaptation at adulthood. In line with previous reports, when fully symptomatic, MeCP2-308 mice showed a reduction in the regular nocturnal hyperactivity in the home-cage and increased anxiety-like behaviours and plasma corticosterone (CORT) levels in response to restraint stress. An abnormal elevation in mRNA levels of mineralocorticoid receptors (MR) and BDNF gene was also evident in the hippocampus of fully symptomatic mutant mice. Neonatal CORT modulated MR gene expression and behavioural reactivity towards a novel object, also restoring wt-like levels of locomotor/exploratory behaviour in mutant mice. Enhanced sensitivity to the neonatal treatment (in terms of increase in GR and MR mRNA levels), was also evident in the hippocampus of MeCP2-308 mice compared to wt littermates. Present results corroborate the hypothesis that targeting the glucocorticoid system may prove valid in contrasting at least some of the RTT-related symptoms and provide evidence that pharmacological interventions during critical early time windows can persistently improve the behavioural phenotype of RTT mice. Current data also support the emerging role played by Mecp2 in mediating the epigenetic programming induced by early life events and indicate that, in the absence of functional MeCP2, programming of the central nervous system in response to early environmental stimuli is abnormally regulated. This article is part of the Special Issue entitled ‘Neurodevelopmental Disorders’.
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21. Demopoulos C, Hopkins J, Davis A. {{A Comparison of Social Cognitive Profiles in children with Autism Spectrum Disorders and Attention-Deficit/Hyperactivity Disorder: A Matter of Quantitative but not Qualitative Difference?}}. {J Autism Dev Disord};2013 (May);43(5):1157-1170.
The aim of this study was to compare social cognitive profiles of children and adolescents with Autism Spectrum Disorders (ASD) and ADHD. Participants diagnosed with an ASD (n = 137) were compared to participants with ADHD (n = 436) on tests of facial and vocal affect recognition, social judgment and problem-solving, and parent- and teacher-report of social functioning. Both groups performed significantly worse than the normative sample on all measures. Although the ASD group had more severe deficits, the pattern of deficits was surprisingly similar between groups, suggesting that social cognitive deficit patterns may be more similar in ASD and ADHD than previously thought. Thus, like those with ASDs, individuals with ADHD may also need to be routinely considered for treatments targeting social skills.
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22. Doherty E, O’Connor R, Zhang A, Lim C, Love JM, Ashton F, Claxton K, Gregersen N, George AM, Love DR. {{Developmental delay referrals and the roles of Fragile X testing and molecular karyotyping: A New Zealand perspective}}. {Mol Med Rep};2013 (May);7(5):1710-1714.
Global developmental delay (GDD) affects ~1-3% of children, many of whom will also have intellectual disability (ID). Fragile X is the major genetic cause of GDD with mental retardation (MR) in males, accounting for ~20% of all X-linked MR. As Fragile X has serious genetic implications, the overwhelming majority of developmental delay (DD) cases referred to our laboratory are concerned with the exclusion of a diagnosis of Fragile X, along with simultaneous karyotype analysis to confirm chromosome aberrations. Critically, molecular laboratories have generally experienced a falling positive detection frequency of Fragile X. In this context, the recent implementation of arraybased techno-logy has significantly increased the likelihood of detecting chromosome aberrations that underpin DD. In the current study, we report a Fragile X mutation detection frequency for DD referrals that is comparable with the falling UK detection frequencies. In addition, we find that there is a 9fold greater likelihood of detecting clinically significant chromosomal aberrations than of detecting a full Fragile X mental retardation 1 (FMR1) gene CGG repeat expansion in cases referred on the basis of DD. We propose a more efficent sequential testing algorithm that involves an initial molecular karyotype, cascading to FMR1 gene analysis in the event of a negative result.
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23. Dolce A, Ben-Zeev B, Naidu S, Kossoff EH. {{Rett syndrome and epilepsy: an update for child neurologists}}. {Pediatr Neurol};2013 (May);48(5):337-345.
Rett syndrome, a neurogenetic disorder predominantly affecting females, has many characteristic features including psychomotor retardation, impaired language development, hand stereotypies, gait dysfunction, and acquired microcephaly. Although each of these features undoubtedly contributes to the morbidity of this neurologic disorder, epilepsy is perhaps one of the most well-described and problematic, affecting as many as 50%-90% of patients. Seizures can often be refractory, requiring polytherapy and consideration of nonpharmacologic management (e.g., ketogenic diets and vagus nerve stimulation). In addition, many nonepileptic symptoms of Rett syndrome can occasionally be difficult to differentiate from seizures making clinical management and family counseling challenging. Our goal in this review is to better define the clinical and electrophysiological aspects of the epilepsy associated with Rett syndrome and provide practical guidance regarding management.
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24. Douglas JF, Sanders KB, Benneyworth MH, Smith JL, Dejean VM, McGrew SG, Veenstra-Vanderweele J. {{Brief report: retrospective case series of oxcarbazepine for irritability/agitation symptoms in autism spectrum disorder}}. {J Autism Dev Disord};2013 (May);43(5):1243-1247.
We examined response to oxcarbazepine prescribed for irritability/agitation symptoms in a retrospective case series of 30 patients with Autism Spectrum Disorder (ASD). The average patient was 12.0 years old (range 5-21) and taking two other psychotropic medications (range 0-4). Fourteen patients (47 %) had a clinical global impression of improvement score of ‘much improved’ during treatment. Ten patients (33 %) showed an improvement on their clinical global impression of severity score. Seven patients (23 %) had a clinically significant adverse event or side effect leading to oxcarbazepine discontinuation. Without a placebo group, it is not possible to evaluate whether oxcarbazepine provides benefit for irritability/agitation symptoms in ASD. The high rate of adverse events suggests its use should be accompanied by caution.
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25. Einfeld SL, Tonge BJ, Clarke KS. {{Prevention and early intervention for behaviour problems in children with developmental disabilities}}. {Curr Opin Psychiatry};2013 (May);26(3):263-269.
PURPOSE OF REVIEW: To review the recent evidence regarding early intervention and prevention studies for children with developmental disabilities and behaviour problems from 2011 to 2013. Recent advances in the field are discussed and important areas for future research are highlighted. RECENT FINDINGS: Recent reviews and studies highlight the utility of antecedent interventions and skills training interventions for reducing behaviour problems. There is preliminary evidence for the effectiveness of parent training interventions when delivered in minimally sufficient formats or in clinical settings. Two recent studies have demonstrated the utility of behavioural interventions for children with genetic causes of disability. SUMMARY: Various forms of behavioural and parent training interventions are effective at reducing the behaviour problems in children with developmental disabilities. However, research on prevention and early intervention continues to be relatively scarce. Further large-scale dissemination studies and effectiveness studies in clinical or applied settings are needed.
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26. Ellaway CJ, Ho G, Bettella E, Knapman A, Collins F, Hackett A, McKenzie F, Darmanian A, Peters GB, Fagan K, Christodoulou J. {{14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype}}. {Eur J Hum Genet};2013 (May);21(5):522-527.
Rett syndrome is a clinically defined neurodevelopmental disorder almost exclusively affecting females. Usually sporadic, Rett syndrome is caused by mutations in the X-linked MECP2 gene in approximately 90-95% of classic cases and 40-60% of individuals with atypical Rett syndrome. Mutations in the CDKL5 gene have been associated with the early-onset seizure variant of Rett syndrome and mutations in FOXG1 have been associated with the congenital Rett syndrome variant. We report the clinical features and array CGH findings of three atypical Rett syndrome patients who had severe intellectual impairment, early-onset developmental delay, postnatal microcephaly and hypotonia. In addition, the females had a seizure disorder, agenesis of the corpus callosum and subtle dysmorphism. All three were found to have an interstitial deletion of 14q12. The deleted region in common included the PRKD1 gene but not the FOXG1 gene. Gene expression analysis suggested a decrease in FOXG1 levels in two of the patients. Screening of 32 atypical Rett syndrome patients did not identify any pathogenic mutations in the PRKD1 gene, although a previously reported frameshift mutation affecting FOXG1 (c.256dupC, p.Gln86ProfsX35) was identified in a patient with the congenital Rett syndrome variant. There is phenotypic overlap between congenital Rett syndrome variants with FOXG1 mutations and the clinical presentation of our three patients with this 14q12 microdeletion, not encompassing the FOXG1 gene. We propose that the primary defect in these patients is misregulation of the FOXG1 gene rather than a primary abnormality of PRKD1.
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27. Enticott PG, Kennedy HA, Rinehart NJ, Tonge BJ, Bradshaw JL, Fitzgerald PB. {{GABAergic activity in autism spectrum disorders: an investigation of cortical inhibition via transcranial magnetic stimulation}}. {Neuropharmacology};2013 (May);68:202-209.
Mounting evidence suggests a possible role for gamma-aminobutyric acid (GABA) in the neuropathophysiology of autism spectrum disorders (ASD), but the extent of this impairment is unclear. A non-invasive, in vivo measure of GABA involves transcranial magnetic stimulation (TMS) of the primary motor cortex to probe cortical inhibition. Individuals diagnosed with ASD (high-functioning autism or Asperger’s disorder) (n = 36 [28 male]; mean age: 26.00 years) and a group of healthy individuals (n = 34 [23 male]; mean age: 26.21 years) (matched for age, gender, and cognitive function) were administered motor cortical TMS paradigms putatively measuring activity at GABAA and GABAB receptors (i.e., short and long interval paired pulse TMS, cortical silent period). All cortical inhibition paradigms yielded no difference between ASD and control groups. There was, however, evidence for short interval cortical inhibition (SICI) deficits among those ASD participants who had experienced early language delay, suggesting that GABA may be implicated in an ASD subtype. The current findings do not support a broad role for GABA in the neuropathophysiology of ASD, but provide further indication that GABAA could be involved in ASD where there is a delay in language acquisition. This article is part of the Special Issue entitled ‘Neurodevelopmental Disorders’.
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28. Essa MM, Braidy N, Vijayan KR, Subash S, Guillemin GJ. {{Excitotoxicity in the pathogenesis of autism}}. {Neurotox Res};2013 (May);23(4):393-400.
Autism is a debilitating neurodevelopment disorder characterised by stereotyped interests and behaviours, and abnormalities in verbal and non-verbal communication. It is a multifactorial disorder resulting from interactions between genetic, environmental and immunological factors. Excitotoxicity and oxidative stress are potential mechanisms, which are likely to serve as a converging point to these risk factors. Substantial evidence suggests that excitotoxicity, oxidative stress and impaired mitochondrial function are the leading cause of neuronal dysfunction in autistic patients. Glutamate is the primary excitatory neurotransmitter produced in the CNS, and overactivity of glutamate and its receptors leads to excitotoxicity. The over excitatory action of glutamate, and the glutamatergic receptors NMDA and AMPA, leads to activation of enzymes that damage cellular structure, membrane permeability and electrochemical gradients. The role of excitotoxicity and the mechanism behind its action in autistic subjects is delineated in this review.
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29. Fiebelkorn IC, Foxe JJ, McCourt ME, Dumas KN, Molholm S. {{Atypical category processing and hemispheric asymmetries in high-functioning children with autism: Revealed through high-density EEG mapping}}. {Cortex};2013 (May);49(5):1259-1267.
Behavioral evidence for an impaired ability to group objects based on similar physical or semantic properties in autism spectrum disorders (ASD) has been mixed. Here, we recorded brain activity from high-functioning children with ASD as they completed a visual-target detection task. We then assessed the extent to which object-based selective attention automatically generalized from targets to non-target exemplars from the same well-known object class (e.g., dogs). Our results provide clear electrophysiological evidence that children with ASD (N = 17, aged 8-13 years) process the similarity between targets (e.g., a specific dog) and same-category non-targets (SCNT) (e.g., another dog) to a lesser extent than do their typically developing (TD) peers (N = 21). A closer examination of the data revealed striking hemispheric asymmetries that were specific to the ASD group. These findings align with mounting evidence in the autism literature of anatomic underconnectivity between the cerebral hemispheres. Years of research in individuals with TD have demonstrated that the left hemisphere (LH) is specialized toward processing local (or featural) stimulus properties and the right hemisphere (RH) toward processing global (or configural) stimulus properties. We therefore propose a model where a lack of communication between the hemispheres in ASD, combined with typical hemispheric specialization, is a root cause for impaired categorization and the oft-observed bias to process local over global stimulus properties.
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30. Fors SD, Fors MF. {{Is autism linked to migraine aura?}}. {Epidemiology};2013 (May);24(3):472-473.
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31. Foster L, Dunn W, Lawson LM. {{Coaching mothers of children with autism: a qualitative study for occupational therapy practice}}. {Phys Occup Ther Pediatr};2013 (May);33(2):253-263.
ABSTRACT The purpose of this study was to understand the perceptions of mothers of children with autism spectrum disorder (ASD) who participated in 10 one-hour coaching sessions. Coaching occurred between an occupational therapist and mother and consisted of information sharing, action, and reflection. Researchers asked 10 mothers six open-ended questions with follow-up probes related to their experiences with coaching. Themes were identified, labeled, and categorized. Themes emerged related to relationships, analysis, reflection, mindfulness, and self-efficacy. Findings indicate that parents perceive the therapist-parent relationship, along with analysis and reflection, as core features that facilitate increased mindfulness and self-efficacy. The findings suggest that how an intervention is provided can lead to positive outcomes, including increased mindfulness and self-efficacy.
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32. Froese T, Stanghellini G, Bertelli MO. {{Is it normal to be a principal mindreader? Revising theories of social cognition on the basis of schizophrenia and high functioning autism-spectrum disorders}}. {Res Dev Disabil};2013 (May);34(5):1376-1387.
Schizophrenia and high functioning autism-spectrum disorders (ASD) are neurodevelopmental conditions that mainly impair social competence, while general intelligence (IQ) is spared. Both disorders have a strong ancillary role in theoretical research on social cognition. Recently the debate has started to be inflected by embodied and phenomenological approaches, which claim that the standard portrayal of all social understanding as so-called ‘mindreading’, i.e. the attribution of mental states to others in the service of explaining and predicting their behavior, is misguided. Instead it is emphasized that we normally perceive others directly as conscious and goal-directed persons, without requiring any theorizing and/or simulation. This paper evaluates some of the implications of abnormal experiences reported by people with schizophrenia and ASD for the current debate in cognitive science. For these people the practice of explicit mindreading seems to be a compensatory strategy that ultimately fails to compensate for – and may even exacerbate – their impairment of intuitive and interactive social understanding. Phenomenological psychopathology thereby supports the emerging view that ‘mindreading’ is not the principal form of normal social understanding.
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33. Gentile I, Bravaccio C, Bonavolta R, Zappulo E, Scarica S, Riccio MP, Settimi A, Portella G, Pascotto A, Borgia G. {{Response to measles-mumps-rubella vaccine in children with autism spectrum disorders}}. {In Vivo};2013 (May-Jun);27(3):377-382.
Background/Aim: The etiology of autism spectrum disorders (ASD) is unknown. The measles-mumps-rubella (MMR) vaccination has been in the past implicated in ASD pathogenesis. The aim of our study was to evaluate the rate of seropositivity and the levels of antibodies against MMR antigens in a cohort of children with ASD compared to control children. PATIENTS AND METHODS: In a cohort of children with ASD and same-age healthy controls, we measured levels and seropositivity of antibodies against MMR. RESULTS: A total of 60 children, 31 with ASD and 29 controls were enrolled. The seropositivity rate and levels of all the three antibodies were similar in cases and controls. CONCLUSION: Children with ASD have a similar level and seropositivity rate of antibodies against the MMR vaccine to same-age controls. As persistent infections are typically associated with high antibody levels, our results support the arguments against a role of MMR vaccination as a causal factor or co-factor in development of ASD.
34. Ghaleiha A, Asadabadi M, Mohammadi MR, Shahei M, Tabrizi M, Hajiaghaee R, Hassanzadeh E, Akhondzadeh S. {{Memantine as adjunctive treatment to risperidone in children with autistic disorder: a randomized, double-blind, placebo-controlled trial}}. {Int J Neuropsychopharmacol};2013 (May);16(4):783-789.
Autism is a neurodevelopmental disorder that causes significant impairment in socialization and communication. It is also associated with ritualistic and stereotypical behaviour. Recent studies propose both hyper-and hypoglutamatergic ideologies for autism. The objective of this study was to assess the effects of memantine plus risperidone in the treatment of children with autism. Children with autism were randomly allocated to risperidone plus memantine or placebo plus risperidone for a 10-wk, double-blind, placebo-controlled study. The dose of risperidone was titrated up to 3 mg/d and memantine was titrated to 20 mg/d. Children were assessed at baseline and after 2, 4, 6, 8 and 10 wk of starting medication protocol. The primary outcome measure was the irritability subscale of Aberrant Behavior Checklist-Community (ABC-C). Difference between the two treatment arms was significant as the group that received memantine had greater reduction in ABC-C subscale scores for irritability, stereotypic behaviour and hyperactivity. Eight side-effects were observed over the trial, out of the 25 side-effects that the checklist included. The difference between the two groups in the frequency of side-effects was not significant. The present study suggests that memantine may be a potential adjunctive treatment strategy for autism and it was generally well tolerated. This trial is registered with the Iranian Clinical Trials Registry (IRCT1138901151556N10; www.irct.ir).
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35. Goods KS, Ishijima E, Chang YC, Kasari C. {{Preschool Based JASPER Intervention in Minimally Verbal Children with Autism: Pilot RCT}}. {J Autism Dev Disord};2013 (May);43(5):1050-1056.
In this pilot study, we tested the effects of a novel intervention (JASPER, Joint Attention Symbolic Play Engagement and Regulation) on 3 to 5 year old, minimally verbal children with autism who were attending a non-public preschool. Participants were randomized to a control group (treatment as usual, 30 h of ABA-based therapy per week) or a treatment group (substitution of 30 min of JASPER treatment, twice weekly during their regular program). A baseline of 12 weeks in which no changes were noted in core deficits was followed by 12 weeks of intervention for children randomized to the JASPER treatment. Participants in the treatment group demonstrated greater play diversity on a standardized assessment. Effects also generalized to the classroom, where participants in the treatment group initiated more gestures and spent less time unengaged. These results provide further support that even brief, targeted interventions on joint attention and play can improve core deficits in minimally verbal children with ASD.
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36. Grant R, Nozyce M. {{Proposed changes to the american psychiatric association diagnostic criteria for autism spectrum disorder: implications for young children and their families}}. {Matern Child Health J};2013 (May);17(4):586-592.
The American Psychiatric Association has revised the diagnostic criteria for their DSM-5 manual. Important changes have been made to the diagnosis of the current (DSM-IV) category of Pervasive Developmental Disorders. This category includes Autistic Disorder (autism), Asperger’s Disorder, and Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS). The DSM-5 deletes Asperger’s Disorder and PDD-NOS as diagnostic entities. This change may have unintended consequences, including the possibility that the new diagnostic framework will adversely affect access to developmental interventions under Individuals with Disabilities Education Act (IDEA) programs, Early Intervention (for birth to 2 years olds) and preschool special education (for 3 and 4 years olds). Changing the current diagnosis of PDD-NOS to a « Social Communication Disorder » focused on language pragmatics in the DSM-5 may restrict eligibility for IDEA programs and limit the scope of services for affected children. Young children who meet current criteria for PDD-NOS require more intensive and multi-disciplinary services than would be available with a communication domain diagnosis and possible service authorization limited to speech-language therapy. Intensive behavioral interventions, inclusive group setting placements, and family support services are typically more available for children with an autism spectrum disorder than with diagnoses reflecting speech-language delay. The diagnostic distinction reflective of the higher language and social functioning between Asperger’s Disorder and autism is also undermined by eliminating the former as a categorical diagnosis and subsuming it under autism. This change may adversely affect treatment planning and misinform parents about prognosis for children who meet current criteria for Asperger’s Disorder.
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37. Hagebeuk EE, RA VDB, AW DEW. {{Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene}}. {Dev Med Child Neurol};2013 (May);55(5):480-484.
Aim In female children with drug-resistant seizures and developmental delay from birth, atypical Rett syndrome caused by mutations in the CDKL5 gene should be considered. Several clinical features resemble classic Rett syndrome. Respiratory and sleep abnormalities are frequently present in Rett syndrome, whereas little is known in patients with CDKL5 mutations. Method In four genetically confirmed female patients with CDKL5 mutations (age range 2-15y), the presence of breathing and sleep abnormalities was evaluated using the validated Sleep Disturbance Scale for Children and polysomnography (PSG). Results The Sleep Disturbance Scale for Children indicated disorders of initiating and maintaining sleep, daytime somnolence, and sleep breathing disorders. In one patient, PSG showed central apnoeas during sleep: her total apnoea-hypopnoea index (AHI) was 4.9, of which the central AHI was 3.4/h. When awake, central apnoeas were present in two of the four female children (central AHI 28/h and 41/h respectively), all preceded by hyperventilation. PSG showed low rapid eye movement (REM) sleep (9.7-18.3%), frequent awakenings, and low sleep efficiency (range 59-78%). Interpretation Episodic hyperventilation followed by central apnoeas was present while awake in two of four patients. This may indicate failure of brainstem respiratory centres. In addition, low REM sleep, frequent arousals (not caused by apnoeas/seizures), and low sleep efficiency were present. Similar to Rett syndrome, in patients with CDKL5 mutations PSG seems warranted to evaluate breathing and sleep disturbances.
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38. Hamlyn J, Duhig M, McGrath J, Scott J. {{Modifiable risk factors for schizophrenia and autism–shared risk factors impacting on brain development}}. {Neurobiol Dis};2013 (May);53:3-9.
Schizophrenia and autism are two poorly understood clinical syndromes that differ in age of onset and clinical profile. However, recent genetic and epidemiological research suggests that these two neurodevelopmental disorders share certain risk factors. The aims of this review are to describe modifiable risk factors that have been identified in both disorders, and, where available, collate salient systematic reviews and meta-analyses that have examined shared risk factors. Based on searches of Medline, Embase and PsycINFO, inspection of review articles and expert opinion, we first compiled a set of candidate modifiable risk factors associated with autism. Where available, we next collated systematic-reviews (with or without meta-analyses) related to modifiable risk factors associated with both autism and schizophrenia. We identified three modifiable risk factors that have been examined in systematic reviews for both autism and schizophrenia. Advanced paternal age was reported as a risk factor for schizophrenia in a single meta-analysis and as a risk factor in two meta-analyses for autism. With respect to pregnancy and birth complications, for autism one meta-analysis identified maternal diabetes and bleeding during pregnancy as risks factors for autism whilst a meta-analysis of eight studies identified obstetric complications as a risk factor for schizophrenia. Migrant status was identified as a risk factor for both autism and schizophrenia. Two separate meta-analyses were identified for each disorder. Despite distinct clinical phenotypes, the evidence suggests that at least some non-genetic risk factors are shared between these two syndromes. In particular, exposure to drugs, nutritional excesses or deficiencies and infectious agents lend themselves to public health interventions. Studies are now needed to quantify any increase in risk of either autism or schizophrenia that is associated with these modifiable environmental factors.
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39. Hill DA, Kearley R. {{Autism litigation: Outcomes for 2010, trends in decision making and changes in diagnostic criteria}}. {Res Dev Disabil};2013 (May);34(5):1843-1848.
The diagnosis of autism spectrum disorder has systematically risen since Kanner’s description in 1943 and Asperger’s definition in 1944. An increase in numbers has met with an increase in litigation regarding autism spectrum disorder (ASD) and the Individuals with Disabilities Education Improvement Act (IDEIA). Outcomes that first favored parents (2002-2004) have moved to outcomes favoring school districts. The authors update the reader on case outcomes for 2010 and discuss how pending changes in legislation and diagnostic criteria may impact navigation through the education system as individuals seek a free appropriate public education (FAPE) and placement in the least restrictive environment (LRE).
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40. Hill-Chapman CR, Herzog TK, Maduro RS. {{Aligning over the child: Parenting alliance mediates the association of autism spectrum disorder atypicality with parenting stress}}. {Res Dev Disabil};2013 (May);34(5):1498-1504.
Children’s symptoms of autism are robustly linked to diminished parent well-being and relationship distress, however they are less clearly linked to other aspects of family development. We focused on child atypical symptoms (i.e., behavioral stereotypies) and investigated relations to parental stress and the parenting alliance. We verified that relations between atypicality and parenting stress were partially mediated by a child-focused aspect of the parenting alliance. These results suggested that parents of highly atypical children reported less stress than parents of children with low levels of these behaviors, an effect that acted through an assessment of the parenting partner as highly involved with the child. However, parents with highly atypical children did not report a similarly better self-focused parenting alliance, indicating that direct emotional support from the partner did not differ between the groups. We discuss the possibility that, among parents who stay together in the face of severe child disability, enhanced perceptions of parenting are not uncommon.
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41. Hoppestad BS. {{Current perspective regarding adults with intellectual and developmental disabilities accessing computer technology}}. {Disabil Rehabil Assist Technol};2013 (May);8(3):190-194.
Purpose: This article was written to summarize current efforts in the research community in regards to assisting adults with severe developmental and intellectual disabilities to access a computer. Method: A literature search was conducted to determine contemporary research that has been conducted to enable computer use in persons with significant developmental disabilities utilizing databases such as ERIC or PubMed. Results: Although various assistive technology devices and interventions have been developed for persons with all types of disabilities, a lack of research into methods to help persons with severe developmental disabilities access a computer is evident. This perpetuates the underutilization of computers in this population such as those attending day programs or residing in residential facilities. Conclusions: Persons with developmental disabilities, particularly adults, are often overlooked and are not thought to be capable of using a personal computer. Though communities have endeavored to further enhance participation by persons with disabilities in many aspects of mainstream society, there is a scarcity of research pertaining to how adults with intellectual disabilities can access a computer, especially those with severe impairments. Once formal schooling is over, there appears to be scant interest in supporting adults using computers. [Box: see text].
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42. Johnson EM, Daniel DC, Gordon J. {{The pur protein family: genetic and structural features in development and disease}}. {J Cell Physiol};2013 (May);228(5):930-937.
The Pur proteins are an ancient family of sequence-specific single-stranded nucleic acid-binding proteins. They bind a G-rich element in either single- or double-stranded nucleic acids and are capable of displacing the complementary C-rich strand. Recently several reports have described Pur family member knockouts, mutations, and disease aberrations. Together with a recent crystal structure of Puralpha, these data reveal conserved structural features of these proteins that have been adapted to serve functions unique to higher eukaryotes. In humans Pur proteins are critical for myeloid cell development, muscle development, and brain development, including trafficking of mRNA to neuronal dendrites. Pur family members have been implicated in diseases as diverse as cancer, premature aging, and fragile-X mental retardation syndrome.
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43. Kanemura H, Sano F, Tando T, Sugita K, Aihara M. {{Can EEG characteristics predict development of epilepsy in autistic children?}}. {Eur J Paediatr Neurol};2013 (May);17(3):232-237.
BACKGROUND: The high occurrence of epilepsy in children with autism spectrum disorders (ASD) is a clear indication that ASD has a neurobiological basis. The current understanding of the association between epilepsy and ASD is still limited, but from a clinical point of view, this association should not be overlooked. AIMS: We investigated the electroencephalogram (EEG) paroxysmal abnormality in children with ASD and the incidence of later development of epilepsy. METHODS: Participants were recruited from University of Yamanashi hospital and 5 satellite hospitals between April 1, 2001 and March 31, 2005. EEG recordings and clinical evaluations were performed every 6 months for at least 6 years, focusing on paroxysmal abnormality. We scored the occurrence and the location of spikes and evaluated the relation with later development of epilepsy. RESULTS: The prospective study included 21 patients with ASD (12 males and 9 females) between the ages of 3 and 6 years. EEG paroxysmal abnormalities were present in 11/21 patients (52.4%). In addition, six of 21 patients (28.6%) had epilepsy at some point in their lives. The presence of frontal paroxysms was significantly associated with later development of epilepsy compared with centrotemporal paroxysmus (p < 0.003). The type of seizure diagnosed was mainly partial; in particular, partial with secondary generalization in 4/6 (66.7%). CONCLUSION: The presence of frontal paroxysms may indicate a higher risk of epilepsy in ASD.
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44. Kim ES, Berkovits LD, Bernier EP, Leyzberg D, Shic F, Paul R, Scassellati B. {{Social robots as embedded reinforcers of social behavior in children with autism}}. {J Autism Dev Disord};2013 (May);43(5):1038-1049.
In this study we examined the social behaviors of 4- to 12-year-old children with autism spectrum disorders (ASD; N = 24) during three tradic interactions with an adult confederate and an interaction partner, where the interaction partner varied randomly among (1) another adult human, (2) a touchscreen computer game, and (3) a social dinosaur robot. Children spoke more in general, and directed more speech to the adult confederate, when the interaction partner was a robot, as compared to a human or computer game interaction partner. Children spoke as much to the robot as to the adult interaction partner. This study provides the largest demonstration of social human-robot interaction in children with autism to date. Our findings suggest that social robots may be developed into useful tools for social skills and communication therapies, specifically by embedding social interaction into intrinsic reinforcers and motivators.
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45. King BH, Veenstra-Vanderweele J, Lord C. {{DSM-5 and Autism: Kicking the Tires and Making the Grade}}. {J Am Acad Child Adolesc Psychiatry};2013 (May);52(5):454-457.
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46. Kujala T, Lepisto T, Naatanen R. {{The neural basis of aberrant speech and audition in autism spectrum disorders}}. {Neurosci Biobehav Rev};2013 (May);37(4):697-704.
Autism spectrum disorders (ASD) are characterized by deficits in communication and social behavior and by narrow interests. Individuals belonging to this spectrum have abnormalities in various aspects of language, ranging from semantic-pragmatic deficits to the absence of speech. They also have aberrant perception, especially in the auditory domain, with both hypo- and hypersensitive features. Neurophysiological approaches with high temporal resolution have given novel insight into the processes underlying perception and language in ASD. Neurophysiological recordings, which are feasible for investigating infants and individuals with no speech, have shown that the representation of and attention to language has an abnormal developmental path in ASD. Even the basic mechanisms for fluent speech perception are degraded at a low level of neural speech analysis. Furthermore, neural correlates of perception and some traits typical of subgroups of individuals on this spectrum have helped in understanding the diversity on this spectrum.
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47. Lai MC, Lombardo MV, Chakrabarti B, Baron-Cohen S. {{Subgrouping the Autism « Spectrum »: Reflections on DSM-5}}. {PLoS Biol};2013 (Apr);11(4):e1001544.
DSM-5 has moved autism from the level of subgroups (« apples and oranges ») to the prototypical level (« fruit »). But making progress in research, and ultimately improving clinical practice, will require identifying subgroups within the autism spectrum.
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48. Lau YC, Hinkley LB, Bukshpun P, Strominger ZA, Wakahiro ML, Baron-Cohen S, Allison C, Auyeung B, Jeremy RJ, Nagarajan SS, Sherr EH, Marco EJ. {{Autism traits in individuals with agenesis of the corpus callosum}}. {J Autism Dev Disord};2013 (May);43(5):1106-1118.
Autism spectrum disorders (ASD) have numerous etiologies, including structural brain malformations such as agenesis of the corpus callosum (AgCC). We sought to directly measure the occurrence of autism traits in a cohort of individuals with AgCC and to investigate the neural underpinnings of this association. We screened a large AgCC cohort (n = 106) with the Autism Spectrum Quotient (AQ) and found that 45 % of children, 35 % of adolescents, and 18 % of adults exceeded the predetermined autism-screening cut-off. Interestingly, performance on the AQ’s imagination domain was inversely correlated with magnetoencephalography measures of resting-state functional connectivity in the right superior temporal gyrus. Individuals with AgCC should be screened for ASD and disorders of the corpus callosum should be considered in autism diagnostic evaluations as well.
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49. Lin E, Balogh R, Cobigo V, Ouellette-Kuntz H, Wilton AS, Lunsky Y. {{Using administrative health data to identify individuals with intellectual and developmental disabilities: a comparison of algorithms}}. {J Intellect Disabil Res};2013 (May);57(5):462-477.
BACKGROUND: Individuals with intellectual and developmental disabilities (IDD) experience high rates of physical and mental health problems; yet their health care is often inadequate. Information about their characteristics and health services needs is critical for planning efficient and equitable services. A logical source of such information is administrative health data; however, it can be difficult to identify cases with IDD in these data. The purpose of this study is to evaluate three algorithms for case finding of IDD in health administrative data. METHODS: The three algorithms were created following existing approaches in the literature which ranged between maximising sensitivity versus balancing sensitivity and specificity. The broad algorithm required only one IDD service contact across all available data and time periods, the intermediate algorithm added the restriction of a minimum of two physician visits while the narrow algorithm added a further restriction that the time period be limited to 2006 onward. The resulting three cohorts were compared according to socio-demographic and clinical characteristics. Comparisons on different subgroups for a hypothetical population of 50 000 individuals with IDD were also carried out: this information may be relevant for planning specialised treatment or support programmes. RESULTS: The prevalence rates of IDD per 100 were 0.80, 0.52 and 0.18 for the broad, intermediate and narrow algorithms, respectively. Except for ‘percentage with psychiatric co-morbidity’, the three cohorts had similar characteristics (standardised differences < 0.1). More stringent thresholds increased the percentage of psychiatric co-morbidity and decreased the percentages of women and urban residents in the identified cohorts (standardised differences = 0.12 to 0.46). More concretely, using the narrow algorithm to indirectly estimate the number of individuals with IDD, a practice not uncommon in planning and policy development, classified nearly 7000 more individuals with psychiatric co-morbidities than using the intermediate algorithm. CONCLUSIONS: The prevalence rate produced by the intermediate algorithm most closely approximated the reported literature rate suggesting the value of imposing a two-physician visit minimum but not restricting the time period covered. While the statistical differences among the algorithms were generally minor, differences in the numbers of individuals in specific population subgroups may be important particularly if they have specific service needs. Health administrative data can be useful for broad-based service planning for individuals with IDD and for population level comparisons around their access and quality of care.
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50. Magana S, Smith LE. {{The use of the autism diagnostic interview-revised with a latino population of adolescents and adults with autism}}. {J Autism Dev Disord};2013 (May);43(5):1098-1105.
Research shows that Latinos are less likely to be diagnosed with autism than their non-Latino counterparts. One factor that may contribute to these differences is that autism diagnostic instruments have not been adapted for the Latino population. The present study compared scores from the Autism Diagnostic Interview-Revised for two groups: 48 Latino adolescents and adults with autism and a matched sample of 96 non-Latino Whites. There were no significant differences between the two groups in total impairments in social reciprocity or communication. However, lower levels of restrictive-and-repetitive behaviors were found among Latino adolescents and adults with autism compared to Whites. Findings suggest that there may be cultural equivalency in some domains, but others may warrant further exploration.
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51. Major NE, Peacock G, Ruben W, Thomas J, Weitzman CC. {{Autism training in pediatric residency: evaluation of a case-based curriculum}}. {J Autism Dev Disord};2013 (May);43(5):1171-1177.
Despite recent studies indicating the high prevalence of autism spectrum disorders (ASDs), there has been little focus on improving ASD education during pediatric residency training. The objective of this study was to evaluate a new curriculum developed in partnership with the Centers for Disease Control and Prevention and the Maternal and Child Health Bureau about ASDs. « Autism Case Training (ACT): A Developmental-Behavioral Pediatrics Curriculum » consists of 7 case-based teaching modules. Modules were facilitated by faculty at 26 pediatric residency programs and data were obtained on 114 residents. Pre- and post-test data revealed significant short-term improvements in residents’ knowledge and self-assessed competence regarding ASDs. Findings suggest that the ACT curriculum is effective in enhancing training about ASDs in pediatric residency programs.
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52. Masino SA, Kawamura M, Jr., Cote JL, Williams RB, Ruskin DN. {{Adenosine and autism: a spectrum of opportunities}}. {Neuropharmacology};2013 (May);68:116-121.
In rodents, insufficient adenosine produces behavioral and physiological symptoms consistent with several comorbidities of autism. In rodents and humans, stimuli postulated to increase adenosine can ameliorate these comorbidities. Because adenosine is a broad homeostatic regulator of cell function and nervous system activity, increasing adenosine’s influence might be a new therapeutic target for autism with multiple beneficial effects. This article is part of the Special Issue entitled ‘Neurodevelopmental Disorders’.
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53. Mathersul D, McDonald S, Rushby JA. {{Autonomic arousal explains social cognitive abilities in high-functioning adults with autism spectrum disorder}}. {Int J Psychophysiol};2013 (Apr 26)
Empirical research into behavioural profiles and autonomic responsivity in individuals with autism spectrum disorders (ASDs) is highly variable and inconsistent. Two preliminary studies of children with ASDs suggest that there may be subgroups of ASDs depending on their resting arousal levels, and that these subgroups show different profiles of autonomic responsivity. The aim of the present study was to determine whether (i) adults with high-functioning ASDs may be separated into subgroups according to variation in resting arousal; and (ii) these ASD arousal subgroups differ in their behavioural profiles for basic emotion recognition, judgements of trustworthiness, and cognitive and affective empathy. Thirty high-functioning adults with ASDs and 34 non-clinical controls participated. Resting arousal was determined as the average skin conductance (SCL) across a 2 min resting period. There was a subgroup of ASD adults with significantly lower resting SCL. These individuals demonstrated poorer emotion recognition, tended to judge faces more negatively, and had atypical relationships between SCL and affective empathy. In contrast, low cognitive empathy was a feature of all ASD adults. These findings have important implications for clinical interventions and future studies investigating autonomic functioning in ASDs.
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54. Matson J. {{Narrative overview of systematic reviews and meta-analyses: evidence on many treatments for psychopathology in people with developmental disabilities is limited}}. {Evid Based Ment Health};2013 (May);16(2):44.
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55. McCleery JP, Elliott NA, Sampanis DS, Stefanidou CA. {{Motor development and motor resonance difficulties in autism: relevance to early intervention for language and communication skills}}. {Front Integr Neurosci};2013;7:30.
Research suggests that a sub-set of children with autism experience notable difficulties and delays in motor skills development, and that a large percentage of children with autism experience deficits in motor resonance. These motor-related deficiencies, which evidence suggests are present from a very early age, are likely to negatively affect social-communicative and language development in this population. Here, we review evidence for delayed, impaired, and atypical motor development in infants and children with autism. We then carefully review and examine the current language and communication-based intervention research that is relevant to motor and motor resonance (i.e., neural « mirroring » mechanisms activated when we observe the actions of others) deficits in children with autism. Finally, we describe research needs and future directions and developments for early interventions aimed at addressing the speech/language and social-communication development difficulties in autism from a motor-related perspective.
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56. McConkey R, Samadi SA. {{The impact of mutual support on Iranian parents of children with an autism spectrum disorder: a longitudinal study}}. {Disabil Rehabil};2013 (May);35(9):775-784.
Purpose: In less affluent countries with scarce professional resources, the mutual support from family and other parents may form the main assistance available to parents of children with developmental disabilities. However, few studies have attempted to promote mutual support among parents. Method: 28 mothers and fathers who attended a group-based training course on autism spectrum disorders were followed up after 12 months. Qualitative and quantitative data on parental well-being were gathered at three time points: before, 3 months after the course and then again 12 months later. Results: Eight parents (@ 30%) maintained contact with one another over the year and this grouping provided a natural experiment with those who had no further contact. All parents maintained improvements on self-rated health and family functioning but these tended to be greater for those who had maintained contact with one another. The post-training gains on parental stress had reverted to baseline levels for both groups. Conclusions: Despite opportunities to do so, most of these Iranian parents chose not to seek support from other families which may reflect cultural dispositions. Those that did so, found the contact beneficial although further training may assist with daily stresses of parenting a child with autism spectrum disorders. [Box: see text].
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57. Mendez MA, Horder J, Myers J, Coghlan S, Stokes P, Erritzoe D, Howes O, Lingford-Hughes A, Murphy D, Nutt D. {{The brain GABA-benzodiazepine receptor alpha-5 subtype in autism spectrum disorder: a pilot [(11)C]Ro15-4513 positron emission tomography study}}. {Neuropharmacology};2013 (May);68:195-201.
GABA (gamma-amino-butyric-acid) is the primary inhibitory neurotransmitter in the human brain. It has been proposed that the symptoms of autism spectrum disorders (ASDs) are the result of deficient GABA neurotransmission, possibly including reduced expression of GABAA receptors. However, this hypothesis has not been directly tested in living adults with ASD. In this preliminary investigation, we used Positron Emission Tomography (PET) with the benzodiazepine receptor PET ligand [(11)C]Ro15-4513 to measure alpha1 and alpha5 subtypes of the GABAA receptor levels in the brain of three adult males with well-characterized high-functioning ASD compared with three healthy matched volunteers. We found significantly lower [(11)C]Ro15-4513 binding throughout the brain of participants with ASD (p < 0.0001) compared with controls. Planned region of interest analyses also revealed significant reductions in two limbic brain regions, namely the amygdala and nucleus accumbens bilaterally. Further analysis suggested that these results were driven by lower levels of the GABAA alpha5 subtype. These results provide initial evidence of a GABAA alpha5 deficit in ASD and support further investigations of the GABA system in this disorder. This article is part of the Special Issue entitled ‘Neurodevelopmental Disorders’.
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58. Nordahl CW, Braunschweig D, Iosif AM, Lee A, Rogers S, Ashwood P, Amaral DG, Van de Water J. {{Maternal autoantibodies are associated with abnormal brain enlargement in a subgroup of children with autism spectrum disorder}}. {Brain Behav Immun};2013 (May);30:61-65.
Autism spectrum disorder (ASD) is very heterogeneous and multiple subtypes and etiologies likely exist. The maternal immune system has been implicated in the pathogenesis of some forms of ASD. Previous studies have identified the presence of specific maternal IgG autoantibodies with reactivity to fetal brain proteins at 37 and 73kDa in up to 12% of mothers of children with ASD. The current study evaluates the presence of these autoantibodies in an independent cohort of mothers of 181 preschool-aged male children (131 ASD, 50 typically developing (TD) controls). We also investigated whether ASD children born to mothers with these autism-specific maternal IgG autoantibodies exhibit a distinct neural phenotype by evaluating total brain volume using structural magnetic resonance imaging (MRI). Of the 131 ASD children, 10 (7.6%) were born to mothers with the 37/73kDa IgG autoantibodies (ASD-IgG). The mothers of the remaining ASD children and all TD controls were negative for these paired autoantibodies. While both ASD groups exhibited abnormal brain enlargement that is commonly observed in this age range, the ASD-IgG group exhibited a more extreme 12.1% abnormal brain enlargement relative to the TD controls. In contrast, the remaining ASD children exhibited a smaller 4.4% abnormal brain enlargement relative to TD controls. Lobar and tissue type analyses revealed that the frontal lobe is selectively enlarged in the ASD-IgG group and that both gray and white matter are similarly affected. These results suggest that maternal autoantibodies associated with autism spectrum disorder may impact brain development leading to abnormal enlargement.
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59. Peterson CC, Slaughter V, Peterson J, Premack D. {{Children with autism can track others’ beliefs in a competitive game}}. {Dev Sci};2013 (May);16(3):443-450.
Theory of mind (ToM) development, assessed via ‘litmus’ false belief tests, is severely delayed in autism, but the standard testing procedure may underestimate these children’s genuine understanding. To explore this, we developed a novel test involving competition to win a reward as the motive for tracking other players’ beliefs (the ‘Dot-Midge task’). Ninety-six children, including 23 with autism (mean age: 10.36 years), 50 typically developing 4-year-olds (mean age: 4.40) and 23 typically developing 3-year-olds (mean age: 3.59) took a standard ‘Sally-Ann’ false belief test, the Dot-Midge task (which was closely matched to the Sally-Ann task procedure) and a norm-referenced verbal ability test. Results revealed that, of the children with autism, 74% passed the Dot-Midge task, yet only 13% passed the standard Sally-Ann procedure. A similar pattern of performance was observed in the older, but not the younger, typically developing control groups. This finding demonstrates that many children with autism who fail motivationally barren standard false belief tests can spontaneously use ToM to track their social partners’ beliefs in the context of a competitive game.
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60. Quintin EM, Bhatara A, Poissant H, Fombonne E, Levitin DJ. {{Processing of musical structure by high-functioning adolescents with autism spectrum disorders}}. {Child Neuropsychol};2013 (May);19(3):250-275.
Enhanced pitch perception and memory have been cited as evidence of a local processing bias in autism spectrum disorders (ASD). This bias is argued to account for enhanced perceptual functioning ( Mottron & Burack, 2001 ; Mottron, Dawson, Soulieres, Hubert, & Burack, 2006 ) and central coherence theories of ASD ( Frith, 1989 ; Happe & Frith, 2006 ). A local processing bias confers a different cognitive style to individuals with ASD ( Happe, 1999 ), which accounts in part for their good visuospatial and visuoconstructive skills. Here, we present analogues in the auditory domain, audiotemporal or audioconstructive processing, which we assess using a novel experimental task: a musical puzzle. This task evaluates the ability of individuals with ASD to process temporal sequences of musical events as well as various elements of musical structure and thus indexes their ability to employ a global processing style. Musical structures created and replicated by children and adolescents with ASD (10-19 years old) and typically developing children and adolescents (7-17 years old) were found to be similar in global coherence. Presenting a musical template for reference increased accuracy equally for both groups, with performance associated to performance IQ and short-term auditory memory. The overall pattern of performance was similar for both groups; some puzzles were easier than others and this was the case for both groups. Task performance was further found to be correlated with the ability to perceive musical emotions, more so for typically developing participants. Findings are discussed in light of the empathizing-systemizing theory of ASD ( Baron-Cohen, 2009 ) and the importance of describing the strengths of individuals with ASD ( Happe, 1999 ; Heaton, 2009 ).
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61. Ribeiro TC, Valasek CA, Minati L, Boggio PS. {{Altered semantic integration in autism beyond language: a cross-modal event-related potentials study}}. {Neuroreport};2013 (May 29);24(8):414-418.
Autism spectrum disorders (ASDs) are characterized by impaired communication, particularly pragmatic and semantic language, resulting in verbal comprehension deficits. Semantic processing in these conditions has been studied extensively, but mostly limited only to linguistic material. Emerging evidence, however, suggests that semantic integration deficits may extend beyond the verbal domain. Here, we explored cross-modal semantic integration using visual targets preceded by musical and linguistic cues. Particularly, we have recorded the event-related potentials to evaluate whether the N400 and late positive potential (LPP) components, two widely studied electrophysiological markers of semantic processing, are differently sensitive to congruence with respect to typically developing children. Seven ASD patients and seven neurotypical participants matched by age, education and intelligence quotient provided usable data. Neuroelectric activity was recorded in response to visual targets that were related or unrelated to a preceding spoken sentence or musical excerpt. The N400 was sensitive to semantic congruence in the controls but not the patients, whereas the LPP showed a complementary pattern. These results suggest that semantic processing in ASD children is also altered in the context of musical and visual stimuli, and point to a functional decoupling between the generators of the N400 and LPP, which may indicate delayed semantic processing. These novel findings underline the importance of exploring semantic integration across multiple modalities in ASDs and provide motivation for further investigation in large clinical samples.
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62. Ricceri L, De Filippis B, Laviola G. {{Rett syndrome treatment in mouse models: searching for effective targets and strategies}}. {Neuropharmacology};2013 (May);68:106-115.
Rett syndrome (RTT) is a pervasive developmental disorder, primarily affecting girls with a prevalence of 1 in every 10,000 births; it represents the second most common cause of intellectual disability in females. Mutations in the gene encoding methyl-CpG-binding protein 2 (MECP2) have been identified as clear etiological factors in more than 90% of classical RTT cases. Whereas the mechanisms leading to the severe, progressive and specific neurological dysfunctions when this gene is mutated still remain to be elucidated, a series of different mouse models have been generated, bearing different Mecp2 mutation. Neurobehavioural analysis in these mouse lines have been carried out and phenotyping analysis can be now utilised to preclinically evaluate the effects of potential RTT treatments. This review summarizes the different results achieved in this research field taking into account different key targets identified to ameliorate RTT phenotype in mouse models, including those not directly downstream of MeCP2 and those limited to the early phases of postnatal development. This article is part of the Special Issue entitled ‘Neurodevelopmental Disorders’.
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63. Richman DM, Barnard-Brak L, Bosch A, Thompson S, Grubb L, Abby L. {{Predictors of self-injurious behaviour exhibited by individuals with autism spectrum disorder}}. {J Intellect Disabil Res};2013 (May);57(5):429-439.
BACKGROUND: Presence of an autism spectrum disorder is a risk factor for development of self-injurious behaviour (SIB) exhibited by individuals with developmental disorders. The most salient SIB risk factors historically studied within developmental disorders are level of intellectual disability, communication deficits and presence of specific genetic disorders. Recent SIB research has expanded the search for risk factors to include less commonly studied variables for people with developmental disorders: negative affect, hyperactivity and impulsivity. METHOD: A heterogeneous sample of 617 individuals with autism spectrum disorder diagnoses was derived from the National Database of Autism Research. Latent constructs were estimated from items of the community version of the Aberrant Behaviour Checklist. Structural equation modelling was used to assess whether impulsivity, hyperactivity, negative affect, severity of stereotypy, intellectual functioning or severity of autism symptoms predicted severity of SIB. RESULTS: Impulsivity (beta = 0.46), followed by intellectual functioning (beta = -0.39), and stereotypy (beta = 0.23) were the variables most highly predictive of increased SIB; impulsivity and stereotypy remained significant predictors of SIB after severity of autism symptoms and intelligence quotient (IQ) were controlled for. CONCLUSIONS: High levels of impulsivity and stereotypy were significant predictors of SIB in a large and diverse sample of people with confirmed autism diagnoses. Future research is needed on the effects of reducing impulsivity and stereotypy on the outcomes of treatment, early intervention and attempts to prevent the development of SIB.
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64. Rojahn J, Schroeder SR, Mayo-Ortega L, Oyama-Ganiko R, Leblanc J, Marquis J, Berke E. {{Validity and reliability of the Behavior Problems Inventory, the Aberrant Behavior Checklist, and the Repetitive Behavior Scale – Revised among infants and toddlers at risk for intellectual or developmental disabilities: A multi-method assessment approach}}. {Res Dev Disabil};2013 (May);34(5):1804-1814.
Reliable and valid assessment of aberrant behaviors is essential in empirically verifying prevention and intervention for individuals with intellectual or developmental disabilities (IDD). Few instruments exist which assess behavior problems in infants. The current longitudinal study examined the performance of three behavior-rating scales for individuals with IDD that have been proven psychometrically sound in older populations: the Aberrant Behavior Checklist (ABC), the Behavior Problems Inventory (BPI-01), and the Repetitive Behavior Scale – Revised (RBS-R). Data were analyzed for 180 between six and 36 months old children at risk for IDD. Internal consistency (Cronbach’s alpha) across the subscales of the three instruments was variable. Test-retest reliability of the three BPI-01 subscales ranged from .68 to .77 for frequency ratings and from .65 to .80 for severity ratings (intraclass correlation coefficients). Using a multitrait-multimethod matrix approach high levels of convergent and discriminant validity across the three instruments was found. As anticipated, there was considerable overlap in the information produced by the three instruments; however, each behavior-rating instrument also contributed unique information. Our findings support using all three scales in conjunction if possible.
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65. Roxburgh CA, Carbone VJ. {{The effect of varying teacher presentation rates on responding during discrete trial training for two children with autism}}. {Behav Modif};2013 (May);37(3):298-323.
Recent research has emphasized the importance of manipulating antecedent variables to reduce interfering behaviors when teaching persons with autism. Few studies have focused on the effects of the rate of teacher-presented instructional demands as an independent variable. In this study, an alternating treatment design was used to evaluate the effects of varied rates of teacher-presented demands (1 s, 5 s, 10 s) on the occurrence of problem behavior, opportunities to respond, responses emitted, accuracy of responding, and magnitude and rate of reinforcement for two children with autism. Results indicated that fast presentation rate (1 s) resulted in lower rates of problem behavior, higher frequencies of instructional demands, higher frequencies of participant responding, and greater magnitudes and rates of reinforcement. Differential effects on accuracy of responding across conditions were not observed. Implications for manipulating the rate of teacher-presented instructional demands as an antecedent variable to reduce problem behavior are discussed.
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66. Sachse M, Schlitt S, Hainz D, Ciaramidaro A, Schirman S, Walter H, Poustka F, Bolte S, Freitag CM. {{Executive and Visuo-motor Function in Adolescents and Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord};2013 (May);43(5):1222-1235.
This study broadly examines executive (EF) and visuo-motor function in 30 adolescent and adult individuals with high-functioning autism spectrum disorder (ASD) in comparison to 28 controls matched for age, gender, and IQ. ASD individuals showed impaired spatial working memory, whereas planning, cognitive flexibility, and inhibition were spared. Pure movement execution during visuo-motor information processing also was intact. In contrast, execution time of reading, naming, and of visuo-motor information processing tasks including a choice component was increased in the ASD group. Results of this study are in line with previous studies reporting only minimal EF difficulties in older individuals with ASD when assessed by computerized tasks. The finding of impaired visuo-motor information processing should be accounted for in further neuropsychological studies in ASD.
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67. Sahu JK, Gulati S, Sapra S, Arya R, Chauhan S, Chowdhury MR, Gupta N, Kabra M, Gupta YK, Dwivedi SN, Kalra V. {{Effectiveness and safety of donepezil in boys with fragile x syndrome: a double-blind, randomized, controlled pilot study}}. {J Child Neurol};2013 (May);28(5):570-575.
The present study was designed as a 12-week, randomized, double-blind, placebo-controlled pilot study to evaluate the effectiveness and safety of donepezil in boys with fragile X syndrome. Twenty boys with fragile X syndrome were randomized to receive 12 weeks of treatment with either placebo or donepezil (2.5 mg daily for initial 4 weeks followed by 5 mg daily for next 8 weeks). The outcome measures included change in intelligence quotient scores on Stanford-Binet Intelligence Scale (Hindi adaptation by Kulshrestha), change in behavioral scores by Conners 3 Parent Rating Scale (Short) and Childhood Autism Rating Scale, safety, and tolerability of donepezil. The study failed to show significant difference in intelligence quotient and behavioral scales with donepezil therapy over 12 weeks. However, donepezil appeared to be safe and well tolerated.
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68. Sanderson C, Allen ML. {{The Specificity of Inhibitory Impairments in Autism and Their Relation to ADHD-Type Symptoms}}. {J Autism Dev Disord};2013 (May);43(5):1065-1079.
Findings on inhibitory control in autism have been inconsistent. This is perhaps a reflection of the different tasks that have been used. Children with autism (CWA) and typically developing controls, matched for verbal and non-verbal mental age, completed three tasks of inhibition, each representing different inhibitory subcomponents: Go/No-Go (delay inhibition), Dog-Pig Stroop (conflict inhibition), and a Flanker task (resistance to distractor inhibition). Behavioural ratings of inattention and hyperactivity/impulsivity were also obtained, as a possible source of heterogeneity in inhibitory ability. CWA were only impaired on the conflict inhibition task, suggesting that inhibitory difficulty is not a core executive deficit in autism. Symptoms of inattention were related to conflict task performance, and thus may be an important predictor of inhibitory heterogeneity.
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69. Sappok T, Diefenbacher A, Budczies J, Schade C, Grubich C, Bergmann T, Bolte S, Dziobek I. {{Diagnosing autism in a clinical sample of adults with intellectual disabilities: How useful are the ADOS and the ADI-R?}}. {Res Dev Disabil};2013 (May);34(5):1642-1655.
Intellectual disability (ID) and autism spectrum disorder (ASD) are frequently co-occurring conditions. Carefully diagnosing ASD in individuals with ID would allow for more tailored clinical interventions that would improve mental health and quality of life. In this study, we evaluated the psychometric properties of the Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview-Revised (ADI-R) in a clinical sample of 79 adults with ID who were suspected of also having ASD. In the testable cases (68%), the ADOS was over-inclusive (specificity 45%) but highly sensitive (100%) of ASD. In the ADI-R, the feasibility was 37%, with a sensitivity of 88% and a specificity of 80%. Previously proposed adaptations of the ADOS algorithm were evaluated, and new items and tasks were suggested. The ADOS and the ADI-R were found to be valuable diagnostic tools for adults with ID. Adjustments of the setting and the tasks may further improve their feasibility and specificity.
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70. Shaw TA, Porter MA. {{Emotion recognition and visual-scan paths in fragile x syndrome}}. {J Autism Dev Disord};2013 (May);43(5):1119-1139.
This study investigated emotion recognition abilities and visual scanning of emotional faces in 16 Fragile X syndrome (FXS) individuals compared to 16 chronological-age and 16 mental-age matched controls. The relationships between emotion recognition, visual scan-paths and symptoms of social anxiety, schizotypy and autism were also explored. Results indicated that, compared to both control groups, the FXS group displayed specific emotion recognition deficits for angry and neutral (but not happy or fearful) facial expressions. Despite these evident emotion recognition deficits, the visual scanning of emotional faces was found to be at developmentally appropriate levels in the FXS group. Significant relationships were also observed between visual scan-paths, emotion recognition performance and symptomology in the FXS group.
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71. Silverman JL, Babineau BA, Oliver CF, Karras MN, Crawley JN. {{Influence of stimulant-induced hyperactivity on social approach in the BTBR mouse model of autism}}. {Neuropharmacology};2013 (May);68:210-222.
Translational research is needed to discover pharmacological targets and treatments for the diagnostic behavioral domains of autism spectrum disorders. Animal models with phenotypic relevance to diagnostic criteria offer clear experimental strategies to test the efficacy and safety of novel treatments. Antagonists of mGluR5 receptors are in clinical trials for Fragile X syndrome and under investigation for the treatment of autism spectrum disorders. However, in preclinical studies of mGluR5 compounds tested in our laboratory and others, increased locomotion following mGluR5 modulation has been observed. Understanding the influence of general activity on sociability and repetitive behaviors will increase the accuracy of interpretations of positive outcomes measured from pharmacological treatment that produces locomotor activating or sedating effects. In the present studies, dose-response curves for d-amphetamine (AMPH)-induced hyperlocomotion were similar in standard B6 mice and in the BTBR mouse model of autism. AMPH produced significant, robust reductions in the high level of repetitive self-grooming that characterizes BTBR, and also reduced the low baseline grooming in B6, indicating that AMPH-induced hyperlocomotion competes with time spent engaged in self-grooming. We then tested AMPH in B6 and BTBR on the 3-chambered social approach task. One component of sociability, the time spent in the chamber with the novel mouse, in B6 mice was reduced, while the sniffing time component of sociability in BTBR mice was enhanced. This finding replicated across multiple cohorts treated with AMPH and saline vehicle. In-depth analysis revealed that AMPH increased the number and decreased the duration of sniffing bouts in BTBR, suggesting BTBR treated with AMPH mostly engaged in brief sniffs rather than true social interactions with the novel mouse during the social approach task. Our data suggest that compounds with stimulant properties may have some direct benefits on reducing repetitive behaviors in autism spectrum disorders, particularly in the subset of autistic individuals with hyperactivity. This article is part of the Special Issue entitled ‘Neurodevelopmental Disorders’.
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72. Singh AS, Chandra R, Guhathakurta S, Sinha S, Chatterjee A, Ahmed S, Ghosh S, Rajamma U. {{Genetic association and gene-gene interaction analyses suggest likely involvement of ITGB3 and TPH2 with autism spectrum disorder (ASD) in the Indian population}}. {Prog Neuropsychopharmacol Biol Psychiatry};2013 (Apr 26)
BACKGROUND: Serotoninergic dysfunction leads to neurodevelopmental abnormalities and behavioral impairments. Platelet hyperserotoninemia is reported as the best identified endophenotype for autism spectrum disorders. Therefore, in the present study we investigate association of TPH2, the rate limiting enzyme in 5-HT biosynthesis and ITGB3, a serotonin quantitative trait locus with ASD in the Indian population. METHODS: Population and family-based genetic association and gene-gene interaction analyses were performed to evaluate the role of ITGB3 and TPH2 markers in ASD etiology. RESULTS: Association tests using ITGB3 markers revealed significant paternal overtransmission of T allele of rs5918 to male probands. Interestingly for TPH2, we observed significant overrepresentation of A-A (rs11179000-rs4290270), G-A (rs4570625-rs4290270), G-G-A (rs4570625-rs11179001-rs4290270) and A-G-A (rs11179000-rs11179001-rs4290270) haplotypes in the controls and maternal preferential transmission of A-A (rs11179001-rs7305115), T-A-A (rs4570625-rs11179001-rs7305115) and T-A-A (rs11179000-rs11179001-rs7305115) and nontransmission of G-G-A (rs4570625-rs11179001-rs7305115) haplotypes to the affected offspring. Moreover, interaction of ITGB3 marker, rs15908 with TPH2 markers was found to be significant and influenced by the sex of the probands. Predicted individual risk, which varied from very mild to moderate, supports combined effect of these markers in ASD. CONCLUSION: Overall results of the present study indicate likely involvement of ITGB3 and TPH2 in the pathophysiology of ASD in the Indian population.
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73. Sonie S, Kassai B, Pirat E, Bain P, Robinson J, Gomot M, Barthelemy C, Charvet D, Rochet T, Tatou M, Assouline B, Cabrol S, Chabane N, Arnaud V, Faure P, Manificat S. {{The French version of the autism-spectrum quotient in adolescents: a cross-cultural validation study}}. {J Autism Dev Disord};2013 (May);43(5):1178-1183.
We assessed the accuracy of the French version of the Autism Spectrum Quotient (AQ) in adolescents with Asperger syndrome (AS) and high-functioning autism (HFA) compared to healthy controls and adolescents with psychiatric disorders (PDs). Three groups of adolescents, aged 11-18, were assessed: 116 with AS/HFA (93 with IQ >/= 85 and 20 with 70 </= IQ < 85), 39 with other PDs, and 199 healthy controls. The AS/HFA group scored significantly higher than the healthy control and PD groups. A cut-off score of 26 was used to differentiate the autism group from healthy controls with 0.89 sensitivity and 0.98 specificity. Scores did not vary by age or sex.
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74. Tran PL, Lehti V, Lampi KM, Helenius H, Suominen A, Gissler M, Brown AS, Sourander A. {{Smoking during Pregnancy and Risk of Autism Spectrum Disorder in a Finnish National Birth Cohort}}. {Paediatr Perinat Epidemiol};2013 (May);27(3):266-274.
BACKGROUND: Results of previous population-based studies examining associations between smoking during pregnancy and autism spectrum disorders (ASD) are contradictory. Furthermore, there is a lack of population-based studies examining the relationship between smoking during pregnancy and the main diagnostic subtypes of ASD. METHODS: We conducted a population-based nested case-control study based on the Finnish Prenatal Study of Autism (FIPS-A) among liveborn infants delivered in Finland between 1987 and 2005. Data on maternal smoking during pregnancy were available from the Finnish Medical Birth Register (FMBR) since October 1990. Data on ASD in the offspring were obtained from the Finnish Hospital Discharge Register (FHDR). RESULTS: Among the three subtypes of ASD, maternal smoking during the whole pregnancy was associated with an increased risk of pervasive developmental disorder (PDD) (odds ratio 1.2, 95% confidence interval 1.0, 1.5). The increase in odds persisted after controlling for maternal age, mother’s socio-economic and psychiatric status, and infant’s weight for gestational age. However, smoking exposure limited to the first trimester was not associated with PDD or any of the other ASD subtypes. CONCLUSIONS: Maternal smoking is related to a modest increase in risk of PDD, while no associations were observed for childhood autism and Asperger’s syndrome.
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75. Usui D, Shimada S, Shimojima K, Sugawara M, Kawasaki H, Shigematu H, Takahashi Y, Inoue Y, Imai K, Yamamoto T. {{Interstitial Duplication of 2q32.1-q33.3 in a Patient With Epilepsy, Developmental Delay, and Autistic Behavior}}. {Am J Med Genet A};2013 (May);161(5):1078-1084.
Duplications of the 2q33 region are rare; to date, only 13 patients have been reported to have this chromosomal abnormality. The reported duplications are of varying size, and the patients shared developmental delay and minor dysmorphic findings. In this study, we identified a duplication of 2q32.1-q33.3 in a patient with psychomotor developmental delay, epilepsy, and autistic behavior. The duplicated region of this patient was reciprocal to the 2q32-q33 deletion syndrome. Chromosomal microarray testing confirmed the 19.5 Mb of duplication that includes over 100 genes, some of which could have functional relevance to the neurological features of this patient. The SATB homeobox 2 gene (SATB2)-the primary gene responsible for the 2q32-q33 deletion syndrome-may be one of them, because of its expression in the cortical projection neurons of the developing brain. The duplication of the potassium channel tetramerisation domain-containing 18 gene (KCTD18) and the ADAM metallopeptidase domain 23 gene (ADAM23) may also contribute to the phenotype. FISH analysis confirmed a tandem configuration of the duplicated segments. This result is in agreement with our previous study, in which we observed that duplicated segments as interstitial duplications are generally inserted in the tandem configuration. (c) 2013 Wiley Periodicals, Inc.
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76. van Boxtel JJ, Lu H. {{Impaired global, and compensatory local, biological motion processing in people with high levels of autistic traits}}. {Front Psychol};2013;4:209.
People with Autism Spectrum Disorder (ASD) are hypothesized to have poor high-level processing but superior low-level processing, causing impaired social recognition, and a focus on non-social stimulus contingencies. Biological motion perception provides an ideal domain to investigate exactly how ASD modulates the interaction between low and high-level processing, because it involves multiple processing stages, and carries many important social cues. We investigated individual differences among typically developing observers in biological motion processing, and whether such individual differences associate with the number of autistic traits. In Experiment 1, we found that individuals with fewer autistic traits were automatically and involuntarily attracted to global biological motion information, whereas individuals with more autistic traits did not show this pre-attentional distraction. We employed an action adaptation paradigm in the second study to show that individuals with more autistic traits were able to compensate for deficits in global processing with an increased involvement in local processing. Our findings can be interpreted within a predictive coding framework, which characterizes the functional relationship between local and global processing stages, and explains how these stages contribute to the perceptual difficulties associated with ASD.
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77. Wang L, Mandell DS, Lawer L, Cidav Z, Leslie DL. {{Healthcare service use and costs for autism spectrum disorder: a comparison between medicaid and private insurance}}. {J Autism Dev Disord};2013 (May);43(5):1057-1064.
Healthcare costs and service use for autism spectrum disorder (ASD) were compared between Medicaid and private insurance, using 2003 insurance claims data in 24 states. In terms of costs and service use per child with ASD, Medicaid had higher total healthcare costs ($22,653 vs. $5,254), higher ASD-specific costs ($7,438 vs. $928), higher psychotropic medication costs($1,468 vs. $875), more speech therapy visits (13.0 vs. 3.6 visits), more occupational/physical therapy visits (6.4 vs. 0.9 visits), and more behavior modification/social skills visits (3.8 vs. 1.1 visits) than private insurance (all p < 0.0001). In multivariate analysis, being enrolled in Medicaid had the largest effect on costs, after controlling for other variables. The findings emphasize the need for continued efforts to improve private insurance coverage of autism.
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78. Wijburg FA, Wegrzyn G, Burton BK, Tylki-Szymanska A. {{Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder}}. {Acta Paediatr};2013 (May);102(5):462-470.
Mucopolysaccharidosis III is a rare genetic disease characterized by progressive cognitive decline and severe hyperactivity that does not respond to stimulants. Somatic features are relatively mild. Patients are often initially misdiagnosed as having idiopathic developmental delay, attention deficit/hyperactivity disorder and/or autism spectrum disorders, putting them at risk for unnecessary testing and treatments. CONCLUSION: Children with developmental or speech delay, especially those with a characteristic somatic feature or behavioural abnormalities, should be screened for MPS III.
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79. Wijetunge LS, Chattarji S, Wyllie DJ, Kind PC. {{Fragile X syndrome: from targets to treatments}}. {Neuropharmacology};2013 (May);68:83-96.
Fragile X syndrome (FXS) is one of the most prevalent and well-studied monogenetic causes of intellectual disability and autism and, although rare, its high penetrance makes it a desirable model for the study of neurodevelopmental disorders more generally. Indeed recent studies suggest that there is functional convergence of a number of genes that are implicated in intellectual disability and autism indicating that an understanding of the cellular and biochemical dysfunction that occurs in monogenic forms of these disorders are likely to reveal common targets for therapeutic intervention. Fundamental research into FXS has provided a wealth of information about how the loss of function of the fragile X mental retardation protein results in biochemical, anatomical and physiological dysfunction leading to the discovery of interventions that correct many of the core pathological phenotypes associated with animal models of FXS. Most promisingly such strategies have led to development of drugs that are now in clinical trials. This review highlights how progress in understanding disorders such as FXS has led to a new era in which targeted molecular treatment towards neurodevelopmental disorders is becoming a reality. This article is part of the Special Issue entitled ‘Neurodevelopmental Disorders’.
