1. Classen S, Monahan M, Brown KE, Hernandez S. {{Driving indicators in teens with attention deficit hyperactivity and/or autism spectrum disorder}}. {Can J Occup Ther}. 2013; 80(5): 274-83.
BACKGROUND: Motor vehicle crashes are leading causes of death among teens. Those teens with attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), or a dual diagnosis of ADHD/ASD have defining characteristics placing them at a greater risk for crashes. PURPOSE: This study examined the between-group demographic, clinical, and simulated driving differences in teens, representing three diagnostic groups, compared to healthy controls (HCs). METHOD: In this prospective observational study, we used a convenience sample of teens recruited from a variety of community settings. FINDINGS: Compared to the 22 HCs (mean age = 14.32, SD = +/-.72), teen drivers representing the diagnostic groups (ADHD/ASD, n = 6, mean age = 15.00, SD = +/-.63; ADHD, n = 9, mean age = 15.00, SD = +/- 1.00; ASD, n = 7, mean age = 15.14, SD = +/-. 1.22) performed poorer on visual function, visual-motor integration, cognition, and motor performance and made more errors on the driving simulator. IMPLICATIONS: Teens from diagnostic groups have more deficits driving on a driving simulator and may require a comprehensive driving evaluation.
2. Davis JM, Searles VB, Anderson N, Keeney J, Dumas L, Sikela JM. {{DUF1220 Dosage Is Linearly Associated with Increasing Severity of the Three Primary Symptoms of Autism}}. {PLoS Genet}. 2014; 10(3): e1004241.
One of the three most frequently documented copy number variations associated with autism spectrum disorder (ASD) is a 1q21.1 duplication that encompasses sequences encoding DUF1220 protein domains, the dosage of which we previously implicated in increased human brain size. Further, individuals with ASD frequently display accelerated brain growth and a larger brain size that is also associated with increased symptom severity. Given these findings, we investigated the relationship between DUF1220 copy number and ASD severity, and here show that in individuals with ASD (n = 170), the copy number (dosage) of DUF1220 subtype CON1 is highly variable, ranging from 56 to 88 copies following a Gaussian distribution. More remarkably, in individuals with ASD CON1 copy number is also linearly associated, in a dose-response manner, with increased severity of each of the three primary symptoms of ASD: social deficits (p = 0.021), communicative impairments (p = 0.030), and repetitive behaviors (p = 0.047). These data indicate that DUF1220 protein domain (CON1) dosage has an ASD-wide effect and, as such, is likely to be a key component of a major pathway underlying ASD severity. Finally, these findings, by implicating the dosage of a previously unexamined, copy number polymorphic and brain evolution-related gene coding sequence in ASD severity, provide an important new direction for further research into the genetic factors underlying ASD.
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3. Dejong H, Bunton P, Hare DJ. {{A Systematic Review of Interventions Used to Treat Catatonic Symptoms in People with Autistic Spectrum Disorders}}. {J Autism Dev Disord}. 2014.
A systematic review was conducted to examine the efficacy of a range of treatments for autistic catatonia. The review identified 22 relevant papers, reporting a total of 28 cases including both adult and paediatric patients. Treatment methods included electroconvulsive therapy (ECT), medication, behavioural and sensory interventions. Quality assessment found the standard of the existing literature to be generally poor, with particular limitations in treatment description and outcome measurement. There is some limited evidence to support the use of ECT, high dose lorazepam and behavioural interventions for people with autistic catatonia. However, there is a need for controlled, high-quality trials. Reporting of side effects and adverse events should also be improved, in order to better evaluate the safety of these treatments.
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4. Egger G, Roetzer KM, Noor A, Lionel AC, Mahmood H, Schwarzbraun T, Boright O, Mikhailov A, Marshall CR, Windpassinger C, Petek E, Scherer SW, Kaschnitz W, Vincent JB. {{Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families}}. {Neurogenetics}. 2014.
Autism or autism spectrum disorder (ASD) is a range of neurodevelopmental disorders starting in early childhood and is characterized by impairments in communication and reciprocal social interaction and presence of restricted and repetitive patterns of behavior. The contribution of genetic factors to autism is clear in twin and family studies. It is apparent that, overall, ASD is a complex non-Mendelian disorder. Recent studies suggest that copy number variations (CNVs) play a significant role in the etiology of ASD. For the current work, we recruited 245 family members from 73 ASD families from Styria, Austria. The DNA from probands was genotyped with Affymetrix single nucleotide polymorphism (SNP) 6.0 microarrays to screen for CNVs in their genomes. Analysis of the microarray data was performed using three different algorithms, and a list of stringent calls was compared to existing CNV data from over 2,357 controls of European ancestry. For stringent calls not present in controls, quantitative real-time PCR (qRT-PCR) was used to validate the CNVs in the probands and in their family members. Twenty-two CNVs were validated from this set (five of which are apparently de novo), many of which appear likely to disrupt genes that may be considered as good candidates for neuropsychiatric disorders, including DLG2, S100B, ARX, DIP2A, HPCAL1, and GPHN. Several others disrupt genes that have previously been implicated in autism, such as BDNF, AUTS2, DPP6, and C18orf22, and our data add to the growing evidence of their involvement in ASD.
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5. Horlin C, Black M, Falkmer M, Falkmer T. {{Proficiency of individuals with autism spectrum disorder at disembedding figures: A systematic review}}. {Dev Neurorehabil}. 2014.
Abstract Objective: This systematic review examines the proficiency and visual search strategies of individuals with autism spectrum disorders (ASD) while disembedding figures and whether they differ from typical controls and other comparative samples. Methods: Five databases, including Proquest, Psychinfo, Medline, CINAHL and Science Direct were used to identify published studies meeting the inclusion and exclusion criteria. Results: Twenty articles were included in the review, the majority of which matched participants by mental age. Outcomes discussed were time taken to identify targets, the number correctly identified, and fixation frequency and duration. Conclusions: Individuals with ASD perform at the same speed or faster than controls and other clinical samples. However, there appear to be no differences between individuals with ASD and controls for number of correctly identified targets. Only one study examined visual search strategies and suggests that individuals with ASD exhibit shorter first and final fixations to targets compared with controls.
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6. Keown K, Bothwell J, Jain S. {{Nutritional implications of selective eating in a child with autism spectrum disorder}}. {BMJ Case Rep}. 2014; 2014.
A 4-year-old boy attending the autism assessment service was identified to have a restricted diet. His food diary documented that he ate a narrow range of foods and consumed excessive quantities of carrot juice (excess 2.5 L daily). Physical examination showed that the boy had a florid orange discolouration of his skin, growth parameters were <91st centile for weight, >50th centile for height and head circumference. Blood investigations showed a raised serum carotene level and vitamin D deficiency. He was referred for urgent specialist input from dietetics and the other disciplines within the autism intervention team.
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7. Kikuchi M, Yoshimura Y, Hiraishi H, Munesue T, Hashimoto T, Tsubokawa T, Takahashi T, Suzuki M, Higashida H, Minabe Y. {{Reduced long-range functional connectivity in young children with autism spectrum disorder}}. {Soc Cogn Affect Neurosci}. 2014.
Autism spectrum disorder (ASD) is often described as a disorder of aberrant neural connectivity. Although it is important to study the pathophysiology of ASD in the developing cortex, the functional connectivity in the brains of young children with ASD has not been well studied. In the present study, brain activity was measured non-invasively during consciousness in 50 young human children with ASD and 50 age- and gender-matched typically developing human (TD) children. We employed a custom child-sized magnetoencephalography (MEG) system in which sensors were located as close to the brain as possible for optimal recording in young children. We focused on theta band oscillations because they are thought to be involved in long-range networks associated with higher cognitive processes. The ASD group showed significantly reduced connectivity between the left anterior and the right posterior areas, exhibiting a decrease in the coherence of theta band (6 Hz) oscillations compared with the TD group. This reduction in coherence was significantly correlated with clinical severity in right-handed children with ASD. This is the first study to demonstrate reduced long-range functional connectivity in conscious young children with ASD using a novel MEG approach.
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8. Kohl S, Wolters C, Gruendler TO, Vogeley K, Klosterkotter J, Kuhn J. {{Prepulse inhibition of the acoustic startle reflex in high functioning autism}}. {PLoS One}. 2014; 9(3): e92372.
BACKGROUND: High functioning autism is an autism spectrum disorder that is characterized by deficits in social interaction and communication as well as repetitive and restrictive behavior while intelligence and general cognitive functioning are preserved. According to the weak central coherence account, individuals with autism tend to process information detail-focused at the expense of global form. This processing bias might be reflected by deficits in sensorimotor gating, a mechanism that prevents overstimulation during the transformation of sensory input into motor action. Prepulse inhibition is an operational measure of sensorimotor gating, which indicates an extensive attenuation of the startle reflex that occurs when a startling pulse is preceded by a weaker stimulus, the prepulse. METHODS: In the present study, prepulse inhibition of acoustic startle was compared between 17 adults with high functioning autism and 17 sex-, age-, and intelligence-matched controls by means of electromyography. RESULTS: Results indicate that participants with high functioning autism exhibited significantly higher startle amplitudes than the control group. However, groups did not differ with regard to PPI or habituation of startle. DISCUSSION: These findings challenge the results of two previous studies that reported prepulse inhibition deficits in high-functioning autism and suggest that sensorimotor gating is only impaired in certain subgroups with autism spectrum disorder.
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9. Rayner C. {{Video-based intervention for children with autism: Towards improved assessment of pre-requisite imitation skills}}. {Dev Neurorehabil}. 2014.
Abstract Objective: To explore the relationship between responses to imitation assessment and video-based intervention (VBI) in children with autism. Methods: Interview- and observation-based imitation assessments were conducted for five boys with autism prior to VBI across three studies. In two of the three studies, the boys’ imitative responses to videos with an animated model and a human model were also compared. Results: Participants who were assessed to have strong imitation skills were also those who responded more positively to VBI. No clear differences were reported in the boys’ responses to the equivalent videos with the animated model and the human model. Conclusions: The level of imitation skills required for successful VBI is relative to the target behaviour. Revision of existing imitation assessment measures, as well as development and validation of more comprehensive measures is warranted for use in conjunction with VBI.
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10. Sappok T, Gaul I, Dziobek I, Bolte S, Diefenbacher A, Bergmann T. {{[The Diagnostic Behavioural Assessment for Autism Spectrum Disorders (DiBAS).]}}. {Psychiatr Prax}. 2014.
Background: One in four individuals with intellectual disability (ID) are additionally diagnosed with autism spectrum disorders (ASD) that may not be recognized und thus remain untreated until adulthood. Diagnosing ASD in adults with ID is challenging and there is a lack of specific diagnostic measures. Methods: The Diagnostic Behavioral Assessment for ASD (DiBAS) is a DSM-5/ICD-10 based caregiver-report screener consisting of 20 Likert-scaled items. This study evaluates the item validities and -difficulties, and the scale’s feasibility and validity in a clinical, adult ID sample (N = 91) from 8/2009 to 12/2011. Results: The DiBAS was applicable in all individuals (100 %) and yielded an adequate diagnostic validity reflected by ROC analysis and an AUC of 0.808. Using a cut-point of 30, the sensitivity and specificity values were 83 % and 64 %, the agreement with the final diagnostic classification was 74 %, and Cohen’s kappa was 0.469. Single item analysis revealed 12 valid DiBAS variables that predominantly could be assigned to the social interaction and non-verbal communication domains; item difficulties varied from 0.21 to 0.84. The scale’s internal consistency was appropriate (Cronbach’s alpha 0.749). Conclusions: The DiBAS is a promising psychometrical sound scale of high feasibility to screen for ASD in adults with ID, which could be further specified by single item analysis.
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11. Schaefer-Campion C, Johnson NL. {{Fostering Ambulation for a Preschool Child with Rett Syndrome: A Case Report}}. {Phys Occup Ther Pediatr}. 2014.
ABSTRACT Children with Rett Syndrome (RS) have neuromotor impairments that impact their mobility. Poor hand function among children with RS limits the selection of an assistive device for ambulation. Purpose: The purpose of this case report is to describe the process of selecting an assistive device for a child with RS to promote ambulation. Method: This single subject case reports on a 5-year-old girl with RS at a suburban mid-western early childhood special education setting. Results: The child in this case was able to walk the farthest distances with a metal toy shopping cart and then with an anterior facing four-wheeled walker. Conclusion: The outcome suggests that physical therapists and health professionals caring for young children with RS consider using a metal toy shopping cart to establish and practice ambulation prior to selection of a longer term, adjustable anterior facing walker like the one in this case report.
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12. Smith LO, Elder JH, Storch EA, Rowe MA. {{Predictors of sense of coherence in typically developing adolescent siblings of individuals with autism spectrum disorder}}. {J Intellect Disabil Res}. 2014.
BACKGROUND: Children with autism spectrum disorder (ASD) may be a stressor for family members yet there is little published research on the impact of having a child with ASD on their typically developing (TD) adolescent siblings. According to Antonovsky’s salutogenic model, a strong sense of coherence leads to the view that the stressor is a manageable challenge rather than a burden and promotes healthier adaptation. This study examines the relationship between stress, TD sibling resources and the sense of coherence in TD siblings. METHOD: This quantitative mail-based study uses a survey methodology, analysing the responses of TD adolescent siblings (n = 96) of individuals with autism, Asperger’s syndrome, or pervasive developmental disorder – not otherwise specified to several rating scales. Adolescent siblings, ages 11 to 18 years, completed the Adolescent Coping Orientation for Problem Experience (ACOPE), Network of Relationship Inventory – Social Provision Version (NRI-SPV), Youth Self Report (YSR), and Sense of Coherence (SOC) instruments; parents completed the Child Autism Rating Scale – 2nd Edition (CARS-2). RESULTS: The salutogenesis model was used to guide and inform this research. Findings suggested the following: (a) the stress of ASD severity and resource of adjustment are related in TD adolescent siblings; (b) TD sibling adjustment has a strong relationship with sense of coherence levels; and (c) a greater number of positive coping strategies buffer TD sibling coherence levels when ASD severity scores are high. CONCLUSIONS: ASD severity and TD adolescent sibling resources influence sense of coherence in adolescent TD siblings of individuals with ASD.
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13. Sokolov O, Kost N, Andreeva O, Korneeva E, Meshavkin V, Tarakanova Y, Dadayan A, Zolotarev Y, Grachev S, Mikheeva I, Varlamov O, Zozulya A. {{Autistic children display elevated urine levels of bovine casomorphin-7 immunoreactivity}}. {Peptides}. 2014.
Elevated concentrations of circulating casomorphins (CM), the exogenous opioid peptides from milk casein, may contribute to the pathogenesis of autism in children. Because several mass spectrometry studies failed to detect casomorphins in autistic children, it was questioned whether these peptides can be detected in body fluids by mass spec. Here we demonstrated, using a novel high sensitivity ELISA method, that autistic children have significantly higher levels of urine CM-7 than control children. The severity of autistic symptoms correlated with concentrations of CM-7 in the urine. Because CMs interact with opioid and serotonin receptors, the known modulators of synaptogenesis, we suggest that chronic exposure to elevated levels of bovine CMs may impair early child development, setting the stage for autistic disorders.
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14. Srinivasan SM, Pescatello LS, Bhat AN. {{Current Perspectives on Physical Activity and Exercise Recommendations for Children and Adolescents With Autism Spectrum Disorders}}. {Phys Ther}. 2014.
Recent evidence suggests that childhood obesity is increasing in children who are developing typically as well as in children with developmental disabilities such as autism spectrum disorders (ASDs). Impairments specific to autism as well as general environmental factors could lead to an imbalance between the intake and expenditure of energy, leading to obesity. In this article, we describe the mechanisms by which autism-specific impairments contribute to obesity. The evidence on exercise interventions to improve physical fitness, address obesity, and reduce autism-specific impairments in children and adolescents with ASDs is discussed. Limited evidence is currently available for exercise interventions in individuals with ASDs. Therefore, literature on other pediatric developmental disabilities and children who are developing typically was reviewed to provide recommendations for clinicians to assess physical activity levels, to promote physical fitness, and to reduce obesity in children and adolescents with ASDs. There is a clear need for further systematic research to develop sensitive assessment tools and holistic multisystem and multifactorial obesity interventions that accommodate the social communication, motor, and behavioral impairments of individuals with ASDs.
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15. Tavassoli T, Kolevzon A, Wang AT, Curchack-Lichtin J, Halpern D, Schwartz L, Soffes S, Bush L, Grodberg D, Cai G, Buxbaum JD. {{De novo SCN2A splice site mutation in a boy with Autism spectrum disorder}}. {BMC Med Genet}. 2014; 15(1): 35.
BACKGROUND: SCN2A is a gene that codes for the alpha subunit of voltage-gated, type II sodium channels, and is highly expressed in the brain. Sodium channel disruptions, such as mutations in SCN2A, may play an important role in psychiatric disorders. Recently, de novo SCN2A mutations in autism spectrum disorder (ASD) have been identified. The current study characterizes a de novo splice site mutation in SCN2A that alters mRNA and protein products. CASE PRESENTATION: We describe results from clinical and genetic characterizations of a seven-year-old boy with ASD. Psychiatric interview and gold standard autism diagnostic instruments (ADOS and ADI-R) were used to confirm ASD diagnosis, in addition to performing standardized cognitive and adaptive functioning assessments (Leiter-R and Vineland Adaptive Behavior Scale), and sensory reactivity assessments (Sensory Profile and Sensory Processing Scales). Genetic testing by whole exome sequencing revealed four de novo events, including a splice site mutation c.476 + 1G > A in SCN2A, a missense mutation (c.2263G > A) causing a p.V755I change in the TLE1 gene, and two synonymous mutations (c.2943A > G in the BUB1 gene, and c.1254 T > A in C10orf68 gene). The de novo SCN2A splice site mutation produced a stop codon 10 amino acids downstream, possibly resulting in a truncated protein and/or a nonsense-mediated mRNA decay. The participant met new DSM-5 criteria for ASD, presenting with social and communication impairment, repetitive behaviors, and sensory reactivity issues. The participant’s adaptive and cognitive skills fell in the low range of functioning. CONCLUSION: This report indicates that a splice site mutation in SCN2A might be contributing to the risk of ASD. Describing the specific phenotype associated with SCN2A mutations might help to reduce heterogeneity seen in ASD.
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16. Tureck K, Matson JL, Cervantes P, Konst MJ. {{An examination of the relationship between autism spectrum disorder, intellectual functioning, and comorbid symptoms in children}}. {Res Dev Disabil}. 2014.
There is a deficiency of research looking at how rates of comorbid psychopathology are effected by autism spectrum disorder (ASD) and intellectual functioning level. The present study aimed to extend the literature in this area by evaluating how ASD and IQ scores are related to ratings on a measure of comorbid symptoms. Twenty-three children with ASD and 87 children without ASD participated in this study. Rates of tantrum behavior, avoidant behavior, worry/depressed, repetitive behavior, under-eating, over-eating, and conduct behavior were examined utilizing the Autism Spectrum Disorders-Comorbidity for Children (ASD-CC). Correlational and multiple regression analyses were then conducted. ASD diagnosis significantly predicted rates of tantrum behavior, avoidant behavior, and repetitive behavior. Children with ASD tended to have higher rates of all three of these comorbid symptoms than children without ASD. Although not statistically significant, there was a negative correlation between IQ and rates of comorbid symptoms, such that children with higher IQ scores tended to have lower rates of comorbid symptoms. The implications of these findings on assessment and intervention are discussed.
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17. Wang XS, Peng CZ, Cai WJ, Xia J, Jin D, Dai Y, Luo XG, Klyachko VA, Deng PY. {{Activity-dependent regulation of release probability at excitatory hippocampal synapses: a crucial role of fragile X mental retardation protein in neurotransmission}}. {Eur J Neurosci}. 2014.
Transcriptional silencing of the Fmr1 gene encoding fragile X mental retardation protein (FMRP) causes fragile X syndrome (FXS), the most common form of inherited intellectual disability and the leading genetic cause of autism. FMRP has been suggested to play important roles in regulating neurotransmission and short-term synaptic plasticity at excitatory hippocampal and cortical synapses. However, the origins and mechanisms of these FMRP actions remain incompletely understood, and the role of FMRP in regulating synaptic release probability and presynaptic function remains debated. Here we used variance-mean analysis and peak-scaled nonstationary variance analysis to examine changes in both presynaptic and postsynaptic parameters during repetitive activity at excitatory CA3-CA1 hippocampal synapses in a mouse model of FXS. Our analyses revealed that loss of FMRP did not affect the basal release probability or basal synaptic transmission, but caused an abnormally elevated release probability specifically during repetitive activity. These abnormalities were not accompanied by changes in excitatory postsynaptic current kinetics, quantal size or postsynaptic alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor conductance. Our results thus indicate that FMRP regulates neurotransmission at excitatory hippocampal synapses specifically during repetitive activity via modulation of release probability in a presynaptic manner. Our study suggests that FMRP function in regulating neurotransmitter release is an activity-dependent phenomenon that may contribute to the pathophysiology of FXS.
