1. Bozdagi O, Tavassoli T, Buxbaum JD. {{Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay}}. {Mol Autism};2013 (Apr 27);4(1):9.
BACKGROUND: Haploinsufficiency of SHANK3, due to either hemizygous gene deletion (termed 22q13 deletion syndrome or Phelan-McDermid syndrome) or to gene mutation, accounts for about 0.5% of the cases of autism spectrum disorder (ASD) and/or developmental delay, and there is evidence for a wider role for SHANK3 and glutamate signaling abnormalities in ASD and related conditions. Therapeutic approaches that reverse deficits in SHANK3-haploinsufficiency may therefore be broadly beneficial in ASD and in developmental delay. FINDINGS: We observed that daily intraperitoneal injections of human insulin-like growth factor 1 (IGF-1) over a 2-week period reversed deficits in hippocampal alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) signaling, long-term potentiation (LTP), and motor performance that we had previously reported in Shank3-deficient mice. Positive effects were observed with an IGF-1 peptide derivative as well. CONCLUSIONS: We observed significant beneficial effects of IGF-1 in a mouse model of ASD and of developmental delay. Studies in mouse and human neuronal models of Rett syndrome also show benefits with IGF-1, raising the possibility that this compound may have benefits broadly in ASD and related conditions, even with differing molecular etiology. Given the extensive safety data for IGF-1 in children with short stature due to primary IGF-1 deficiency, IGF-1 is an attractive candidate for controlled clinical trials in SHANK3-deficiency and in ASD.
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2. Daniels AM, Mandell DS. {{Children’s Compliance with American Academy of Pediatrics’ Well-Child Care Visit Guidelines and the Early Detection of Autism}}. {J Autism Dev Disord};2013 (Apr 26)
This study estimated compliance with American Academy of Pediatrics (AAP) guidelines for well-child care and the association between compliance and age at diagnosis in a national sample of Medicaid-enrolled children with autism (N = 1,475). Mixed effects linear regression was used to assess the relationship between compliance and age at diagnosis. Mean age at diagnosis was 37.4 (SD 8.4) months, and mean compliance was 55 % (SD 33 %). Children whose care was compliant with AAP guidelines were diagnosed 1.6 months earlier than children who received no well-child care. Findings support that the timely receipt of well-child care may contribute to earlier detection. Additional research on the contribution of compliance, well-child visit components and provider characteristics on the timely diagnosis of autism is needed.
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3. 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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4. Eack SM, Greenwald DP, Hogarty SS, Bahorik AL, Litschge MY, Mazefsky CA, Minshew NJ. {{Cognitive Enhancement Therapy for Adults with Autism Spectrum Disorder: Results of an 18-month Feasibility Study}}. {J Autism Dev Disord};2013 (Apr 26)
Adults with autism experience significant impairments in social and non-social information processing for which few treatments have been developed. This study conducted an 18-month uncontrolled trial of Cognitive Enhancement Therapy (CET), a comprehensive cognitive rehabilitation intervention, in 14 verbal adults with autism spectrum disorder to investigate its feasibility, acceptability, and initial efficacy in treating these impairments. Results indicated that CET was satisfying to participants, with high treatment attendance and retention. Effects on cognitive deficits and social behavior were also large (d = 1.40-2.29) and statistically significant (all p < .001). These findings suggest that CET is a feasible, acceptable, and potentially effective intervention for remediating the social and non-social cognitive impairments in verbal adults with autism.
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5. Feliciano P. {{PAK inhibitor in fragile X}}. {Nat Genet};2013 (Apr 26);45(5):477.
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6. Gillespie-Lynch K, Elias R, Escudero P, Hutman T, Johnson SP. {{Atypical Gaze Following in Autism: A Comparison of Three Potential Mechanisms}}. {J Autism Dev Disord};2013 (Apr 26)
In order to evaluate the following potential mechanisms underlying atypical gaze following in autism, impaired reflexive gaze following, difficulty integrating gaze and affect, or reduced understanding of the referential significance of gaze, we administered three paradigms to young children with autism (N = 21) and chronological (N = 21) and nonverbal mental age (N = 21) matched controls. Children with autism exhibited impaired reflexive gaze following. The absence of evidence of integration of gaze and affect, regardless of diagnosis, indicates ineffective measurement of this construct. Reduced gaze following was apparent among children with autism during eye-tracking and in-person assessments. Word learning from gaze cues was better explained by developmental level than autism. Thus, gaze following may traverse an atypical, rather than just delayed, trajectory in autism.
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7. Hollway JA, Aman MG, Butter E. {{Correlates and Risk Markers for Sleep Disturbance in Participants of the Autism Treatment Network}}. {J Autism Dev Disord};2013 (Apr 27)
We explored possible cognitive, behavioral, emotional, and physiological risk markers for sleep disturbance in children with autism spectrum disorders. Data from 1,583 children in the Autism Treatment Network were analyzed. Approximately 45 potential predictors were analyzed using hierarchical regression modeling. As medication could confound findings, it was included in the analyses as a covariate. Results revealed that anxiety, autism symptom severity, sensory sensitivities, and GI problems were associated with sleep disturbance. IQ positively predicted sleep disturbance, and children with Asperger’s Disorder were more vulnerable than others. The amount of variance in sleep outcomes explained by predictor variables was modest (i.e., R 2 from .104 to .201). Predictor variables were evaluated in the context of a bidirectional theoretical framework.
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8. Jou RJ, Frazier TW, Keshavan MS, Minshew NJ, Hardan AY. {{A two-year longitudinal pilot MRI study of the brainstem in autism}}. {Behav Brain Res};2013 (Apr 22)
Research has demonstrated the potential role of the brainstem in the pathobiology of autism. Previous studies have suggested reductions in brainstem volume and a relationship between this structure and sensory abnormalities. However, little is known regarding the developmental aspects of the brainstem across childhood and adolescence. The goal of this pilot study was to examine brainstem development via MRI volumetry using a longitudinal research design. Participants included 23 boys with autism and 23 matched controls (age range=7-17 years), all without intellectual disability. Participants underwent structural MRI scans once at baseline and again at two-year follow-up. Brainstem volumetric measurements were performed using the BRAINS2 software package. There were no significant group differences in age, gender, handedness, and total brain volume; however, full-scale IQ was higher in controls. Autism and control groups showed different patterns of growth in brainstem volume. While whole brainstem volume remained stable in controls over the two-year period, the autism group showed increases with age reaching volumes comparable to controls by age 15 years. This increase of whole brainstem volume was primarily driven by bilateral increases in gray matter volume. Findings from this preliminary study are suggestive of developmental brainstem abnormalities in autism primarily involving gray matter structures. These findings are consistent with autism being conceptualized as a neurodevelopmental disorder with alterations in brain-growth trajectories. More longitudinal MRI studies are needed integrating longitudinal cognitive/behavioral data to confirm and elucidate the clinical significance of these atypical growth patterns.
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9. Lau WY, Kelly AB, Peterson CC. {{Further Evidence on the Factorial Structure of the Autism Spectrum Quotient (AQ) for Adults With and Without a Clinical Diagnosis of Autism}}. {J Autism Dev Disord};2013 (Apr 26)
The Autism Spectrum Quotient (AQ) has been widely used for measuring autistic traits however its factor structure has been primarily determined from nonclinic populations. This study aimed to establish an internally coherent and reliable factor structure for the AQ using a sample of 455 Australian adults of whom 141 had autism spectrum disorder (ASD) diagnoses. Principal component analysis revealed a 39-item questionnaire with five-factors: Sociability, Social Cognition, Interest in Patterns, Narrow Focus and Resistance to Change. The revised AQ-39 had sound goodness-of-fit indices, good-to-excellent internal consistency and test-retest reliability, and scores for ASD and non-ASD participants were significantly different. The AQ-39 may be useful in screening and for guiding the focus of therapy.
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10. Staniland JJ, Byrne MK. {{The Effects of a Multi-Component Higher-Functioning Autism Anti-Stigma Program on Adolescent Boys}}. {J Autism Dev Disord};2013 (Apr 26)
A six-session higher-functioning autism anti-stigma program incorporating descriptive, explanatory and directive information was delivered to adolescent boys and the impact upon knowledge, attitudes and behavioural intentions towards peers with autism was evaluated. Participants were seventh-, eighth- and ninth-grade students (N = 395) from regular classes in a mainstream school. Two-eighth-grade classes were randomly allocated to the intervention condition and all remaining students were either allocated to the no-intervention peer or no-intervention non-peer condition. The anti-stigma program improved the knowledge and attitudes, but not the behavioural intentions of participants towards their peers with autism. Knowledge and attitudinal changes were maintained at follow-up. There were no spill-over effects of the program to non-targeted students. These results provide some preliminary evidence for the effectiveness of multi-session anti-stigma programs incorporating combined information for adolescent students in inclusive educational environments.
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11. Steinman G. {{Predicting autism at birth}}. {Med Hypotheses};2013 (Apr 22)
The amounts of at least three biochemical factors are more often abnormal in autistic people than neurologically normal ones. They include insulin-like growth factor, anti-myelin basic protein, and serotonin. This may explain why processes initiated in utero which hinder normal neurogenesis, especially myelination, continue after delivery. Quantitation of these parameters may make possible the calculation of an autism index, anticipating at birth which children will ultimately develop overt autism.
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12. Stoit AM, van Schie HT, Slaats-Willemse DI, Buitelaar JK. {{Grasping Motor Impairments in Autism: Not Action Planning but Movement Execution is Deficient}}. {J Autism Dev Disord};2013 (Apr 26)
Different views on the origin of deficits in action chaining in autism spectrum disorders (ASD) have been posited, ranging from functional impairments in action planning to internal models supporting motor control. Thirty-one children and adolescents with ASD and twenty-nine matched controls participated in a two-choice reach-to-grasp paradigm wherein participants received cueing information indicating either the object location or the required manner of grasping. A similar advantage for location cueing over grip cueing was found in both groups. Both accuracy and reaction times of the ASD group were indistinguishable from the control group. In contrast, movement times of the ASD group were significantly delayed in comparison with controls. These findings suggest that movement execution rather than action planning is deficient in ASD, and that deficits in action chaining derive from impairments in internal action models supporting action execution.
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13. Taylor LJ, Maybery MT, Wray J, Ravine D, Hunt A, Whitehouse AJ. {{Brief Report: Do the Nature of Communication Impairments in Autism Spectrum Disorders Relate to the Broader Autism Phenotype in Parents?}}. {J Autism Dev Disord};2013 (Apr 26)
Extensive empirical evidence indicates that the lesser variant of Autism Spectrum Disorders (ASD) involves a communication impairment that is similar to, but milder than, the deficit in clinical ASD. This research explored the relationship between the broader autism phenotype (BAP) among parents, an index of genetic liability for ASD, and proband communication difficulties. ASD probands with at least one BAP parent (identified using the Autism Spectrum Quotient) had greater structural and pragmatic language difficulties (assessed using the Children’s Communication Checklist-2) than ASD probands with no BAP parent. This finding provides support for the position that genetic liability for ASD is associated with increased communication difficulties across structural and pragmatic domains.
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14. Turygin NC, Matson JL, Adams H, Belva B. {{The effect of DSM-5 criteria on externalizing, internalizing, behavioral and adaptive symptoms in children diagnosed with autism}}. {Dev Neurorehabil};2013 (Apr 25)
Objective: Diagnostic criteria for autism spectrum disorders (ASDs) are changing with the fifth edition of the Diagnostic and Statistical Manual (DSM-5), which simplifies the diagnostic categories into social/emotional deficits and repetitive and restricted behavior. ASDs have been closely linked to a variety of other disorders, in particular externalizing disorders such as ADHD, and internalizing disorders including anxiety disorders and obsessive compulsive disorder. The present study examines the externalizing, internalizing, behavioral and adaptive symptoms of children with ASD. Method: Children diagnosed with the DSM-IV who do not meet diagnostic criteria for DSM-5 and were compared to a non-ASD sample and a sample of those who meet the new criteria. Differences were examined between the three experimental groups with respect to internalizing, externalizing, behavioral severity and adaptive behavior. Results: No significant differences were observed between the DSM-5 and DSM-IV groups with respect to composite and subscale scores on the externalizing, behavior severity index and adaptive behavior domains of the Behavior Assessment System for Children, Second Edition. Conclusions: Significantly more impairment was evident for both ASD groups compared to the no-ASD group.
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15. Woynaroski TG, Kwakye LD, Foss-Feig JH, Stevenson RA, Stone WL, Wallace MT. {{Multisensory Speech Perception in Children with Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Apr 27)
This study examined unisensory and multisensory speech perception in 8-17 year old children with autism spectrum disorders (ASD) and typically developing controls matched on chronological age, sex, and IQ. Consonant-vowel syllables were presented in visual only, auditory only, matched audiovisual, and mismatched audiovisual (« McGurk ») conditions. Participants with ASD displayed deficits in visual only and matched audiovisual speech perception. Additionally, children with ASD reported a visual influence on heard speech in response to mismatched audiovisual syllables over a wider window of time relative to controls. Correlational analyses revealed associations between multisensory speech perception, communicative characteristics, and responses to sensory stimuli in ASD. Results suggest atypical speech perception is linked to broader behavioral characteristics of ASD.
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16. Yang W, Liu J, Zheng F, Jia M, Zhao L, Lu T, Ruan Y, Zhang J, Yue W, Zhang D, Wang L. {{The Evidence for Association of ATP2B2 Polymorphisms with Autism in Chinese Han Population}}. {PLoS One};2013;8(4):e61021.
BACKGROUND: Autism is a neurodevelopmental disorder with a high estimated heritability. ATP2B2, located on human chromosome 3p25.3, encodes the plasma membrane calcium-transporting ATPase 2 which extrudes Ca(2+) from cytosol into extracellular space. Recent studies reported association between ATP2B2 and autism in samples from Autism Genetic Resource Exchange (AGRE) and Italy. In this study, we investigated whether ATP2B2 polymorphisms were associated with autism in Chinese Han population. METHODS: We performed a family based association study between five SNPs (rs35678 in exon, rs241509, rs3774180, rs3774179, and rs2278556 in introns) in ATP2B2 and autism in 427 autism trios of Han Chinese descent. All SNPs were genotyped using the Sequenom genotyping platform. The family-based association test (FBAT) program was used to perform association test for SNPs and haplotype analyses. RESULTS: This study demonstrated a preferential transmission of T allele of rs3774179 to affected offsprings under an additive model (T>C, Z = 2.482, p = 0.013). While C allele of rs3774179 showed an undertransmission from parents to affected children under an additive and a dominant model, respectively (Z = -2.482, p = 0.013; Z = -2.591, p = 0.0096). Haplotype analyses revealed that three haplotypes were significantly associated with autism. The haplotype C-C (rs3774180-rs3774179) showed a significant undertransmission from parents to affected offsprings both in specific and global haplotype FBAT (Z = -2.037, p = 0.042; Global p = 0.03). As for the haplotype constructed by rs3774179 and rs2278556, C-A might be a protective haplotype (Z = -2.206, p = 0.027; Global p = 0.04), while T-A demonstrated an excess transmission from parents to affected offsprings (Z = 2.143, p = 0.032). These results were still significant after using the permutation method to obtain empirical p values. CONCLUSIONS: Our research suggested that ATP2B2 might play a role in the etiology of autism in Chinese Han population.
