1. Abrams DA, Lynch CJ, Cheng KM, Phillips J, Supekar K, Ryali S, Uddin LQ, Menon V. {{Underconnectivity between voice-selective cortex and reward circuitry in children with autism}}. {Proc Natl Acad Sci U S A};2013 (Jun 17)
Individuals with autism spectrum disorders (ASDs) often show insensitivity to the human voice, a deficit that is thought to play a key role in communication deficits in this population. The social motivation theory of ASD predicts that impaired function of reward and emotional systems impedes children with ASD from actively engaging with speech. Here we explore this theory by investigating distributed brain systems underlying human voice perception in children with ASD. Using resting-state functional MRI data acquired from 20 children with ASD and 19 age- and intelligence quotient-matched typically developing children, we examined intrinsic functional connectivity of voice-selective bilateral posterior superior temporal sulcus (pSTS). Children with ASD showed a striking pattern of underconnectivity between left-hemisphere pSTS and distributed nodes of the dopaminergic reward pathway, including bilateral ventral tegmental areas and nucleus accumbens, left-hemisphere insula, orbitofrontal cortex, and ventromedial prefrontal cortex. Children with ASD also showed underconnectivity between right-hemisphere pSTS, a region known for processing speech prosody, and the orbitofrontal cortex and amygdala, brain regions critical for emotion-related associative learning. The degree of underconnectivity between voice-selective cortex and reward pathways predicted symptom severity for communication deficits in children with ASD. Our results suggest that weak connectivity of voice-selective cortex and brain structures involved in reward and emotion may impair the ability of children with ASD to experience speech as a pleasurable stimulus, thereby impacting language and social skill development in this population. Our study provides support for the social motivation theory of ASD.
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2. Al-Ayadhi LY, Mostafa GA. {{Elevated serum levels of macrophage-derived chemokine and thymus and activation-regulated chemokine in autistic children}}. {J Neuroinflammation};2013 (Jun 19);10(1):72.
BACKGROUND: In some autistic children, there is an imbalance of T helper (Th)1/Th2 lymphocytes toward Th2, which may be responsible for the induction of the production of autoantibodies in these children. Th2 lymphocytes express CCR4 receptors. CCR4 ligands include macrophage-derived chemokine (MDC) and thymus and activation-regulated chemokine (TARC). They direct trafficking and recruitment of Th2 cells. We are the first to measure serum levels of CCR4 ligands in relation to the degree of the severity of autism. METHODS: Serum concentrations of MDC and TARC were measured, by quantitative sandwich enzyme immunoassay technique, in 56 autistic children and 32 healthy matched children. RESULTS: Autistic children had significantly higher serum levels of MDC and TARC than healthy controls (P <0.001 and P <0.001, respectively). Children with severe autism had significantly higher serum levels of MDC and TARC than patients with mild to moderate autism (P <0.001 and P = 0.01, respectively). In addition, there were significant positive correlations between CARS and serum levels of both MDC (P <0.001) and TARC (P <0.001) in children with autism. There were significant positive correlations between serum levels of MDC and TARC in autistic children (P <0.001). CONCLUSIONS: Serum levels of CCR4 ligands were elevated in autistic children and they were significantly correlated to the degree of the severity of autism. However, further research is warranted to determine the pathogenic role of CCR4 ligands in autism and to shed light on the therapeutic role of CCR4-ligand antagonism in autistic children.
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3. Bearss K, Lecavalier L, Minshawi N, Johnson C, Smith T, Handen B, Sukhodolsky D, Aman M, Swiezy N, Butter E, Scahill L. {{Toward an exportable parent training program for disruptive behaviors in autism spectrum disorders}}. {Neuropsychiatry (London)};2013 (Apr);3(2):169-180.
Autism spectrum disorders (ASD) are chronic conditions of early childhood onset characterized by profound deficits in social interaction, impaired communication, and repetitive behavior. The prevalence of ASD is now estimated to be 1 in 88 children. As the number of identified cases of ASD has grown, so have the challenges of serving these children and their families. Unfortunately, the empirical foundation for many interventions for this population is not firmly established. Thus, there is a pressing need to conduct trials that will expand the evidence base and guide clinical treatment. Investigators from the Research Units in Pediatric Psychopharmacology (RUPP; Indiana University, Ohio State University, University of Pittsburgh, Yale University) followed a treatment development model outlined by an NIMH ad hoc committee to develop and test a parent training (PT) treatment manual for children with ASD accompanied by disruptive behavior problems. This article describes the process of manual development and cross-site therapist training, establishment and maintenance of treatment integrity, assessment of treatment acceptance by families as well as primary outcomes of three trials. Results suggest the structured PT program can be delivered with a high degree of fidelity within and across therapists, is acceptable to parents and can produce significant reductions in disruptive behaviors in children with ASD.
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4. Bilaver LA, Jordan N. {{Impact of State Mental Health Parity Laws on Access to Autism Services}}. {Psychiatr Serv};2013 (Jun 17)
OBJECTIVES This study examined the effect of state mental health parity laws on family financial burden, satisfaction with health insurance, and receipt of needed mental health services for privately insured children ages three to 17 with autism spectrum disorder (ASD). METHODS Data came from the 2005-2006 wave of the National Survey of Children With Special Health Care Needs. An econometric approach with instrumental variables was used to control for the nonrandom selection of states according to their mental health parity laws. The study analyzed data for 949 youths with ASD and private health insurance. Six outcome variables were examined, including several measures of family financial burden, satisfaction with health insurance, and receipt of needed mental health services. RESULTS Families of children needing mental health services and living in a state with a strict parity law had a 61% higher probability of reporting out-of-pocket spending >$1,000 compared with those not living in a strict parity state. Compared with families of children living in a strict parity state that did not specify ASD, those living in a strict parity state that specified ASD had a 92% higher probability of reporting unreasonable out-of-pocket spending. All other results were statistically insignificant. CONCLUSIONS In contrast with previous research, this study did not find strong evidence that state mental health parity laws positively affected service access for children with ASD. Future research on the effect of autism insurance reform will provide a more precise test of the impact of insurance mandates on improving access to treatment services for children with ASD.
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5. Broder-Fingert S, Shui A, Pulcini CD, Kurowski D, Perrin JM. {{Racial and Ethnic Differences in Subspecialty Service Use by Children With Autism}}. {Pediatrics};2013 (Jun 17)
OBJECTIVE:To describe racial differences in use of specialty care among children with autism spectrum disorder.METHODS:We identified patients ages 2 to 21 years with an International Classification of Diseases, Ninth Revision code of autism (299.0) seen from 2000 to 2011 at a major academic health center by using a research patient data repository and determined rates of specialty provider visits and procedures by race. We then used logistic regression to determine the associations of rates of subspecialty visits and procedures with race and ethnicity, controlling for gender, age, and payer type.RESULTS:We identified 3615 patients (2935 white, 243 Hispanic, 188 African American, and 249 other). The most striking differences were in use of gastroenterology (GI)/nutrition services. Nonwhite children were less likely to use GI/nutrition specialty providers (African American, odds ratio = 0.32 [95th percentile confidence interval: 0.18-0.55]; Hispanic, 0.32 [0.20-0.51]; other, 0.56 [0.34-0.92]) as well as neurology (African American, 0.52 [0.33-0.83]; Hispanic, 0.40 [0.27-0.59]) and psychiatry/psychology (African American, 0.44 [0.27-0.72]; Hispanic, 0.60 [0.41-0.88]; other, 0.62 [0.38-0.99]). Nonwhite children were less likely to have had GI studies: colonoscopy (African American, 0.23 [0.10-0.53]; Hispanic, 0.26 [0.14-0.50]), endoscopy (African American, 0.31 [0.16-0.58]; Hispanic, 0.27 [0.16-0.46]; other, 0.53 [0.31-0.90]), and stool studies (African American, 0.49 [0.30-0.91]). Hispanic children had lower rates of neurologic and other testing: EEG (Hispanic, 0.53 [0.35-0.78]), brain MRI (African American, 0.37 [0.22-0.63]; Hispanic, 0.62 [0.42-0.90]), sleep study (Hispanic, 0.18 [0.04-0.76]), and neuropsychiatric testing (Hispanic, 0.55 [0.32-0.96]).CONCLUSIONS:We found racial and ethnic differences among children diagnosed with autism in use of care and procedures. Possible explanations for these findings include differences in presentation, referral rates, or referral follow through.
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6. Di Martino A, Yan CG, Li Q, Denio E, Castellanos FX, Alaerts K, Anderson JS, Assaf M, Bookheimer SY, Dapretto M, Deen B, Delmonte S, Dinstein I, Ertl-Wagner B, Fair DA, Gallagher L, Kennedy DP, Keown CL, Keysers C, Lainhart JE, Lord C, Luna B, Menon V, Minshew NJ, Monk CS, Mueller S, Muller RA, Nebel MB, Nigg JT, O’Hearn K, Pelphrey KA, Peltier SJ, Rudie JD, Sunaert S, Thioux M, Tyszka JM, Uddin LQ, Verhoeven JS, Wenderoth N, Wiggins JL, Mostofsky SH, Milham MP. {{The autism brain imaging data exchange: towards a large-scale evaluation of the intrinsic brain architecture in autism}}. {Mol Psychiatry};2013 (Jun 18)
Autism spectrum disorders (ASDs) represent a formidable challenge for psychiatry and neuroscience because of their high prevalence, lifelong nature, complexity and substantial heterogeneity. Facing these obstacles requires large-scale multidisciplinary efforts. Although the field of genetics has pioneered data sharing for these reasons, neuroimaging had not kept pace. In response, we introduce the Autism Brain Imaging Data Exchange (ABIDE)-a grassroots consortium aggregating and openly sharing 1112 existing resting-state functional magnetic resonance imaging (R-fMRI) data sets with corresponding structural MRI and phenotypic information from 539 individuals with ASDs and 573 age-matched typical controls (TCs; 7-64 years) (http://fcon_1000.projects.nitrc.org/indi/abide/). Here, we present this resource and demonstrate its suitability for advancing knowledge of ASD neurobiology based on analyses of 360 male subjects with ASDs and 403 male age-matched TCs. We focused on whole-brain intrinsic functional connectivity and also survey a range of voxel-wise measures of intrinsic functional brain architecture. Whole-brain analyses reconciled seemingly disparate themes of both hypo- and hyperconnectivity in the ASD literature; both were detected, although hypoconnectivity dominated, particularly for corticocortical and interhemispheric functional connectivity. Exploratory analyses using an array of regional metrics of intrinsic brain function converged on common loci of dysfunction in ASDs (mid- and posterior insula and posterior cingulate cortex), and highlighted less commonly explored regions such as the thalamus. The survey of the ABIDE R-fMRI data sets provides unprecedented demonstrations of both replication and novel discovery. By pooling multiple international data sets, ABIDE is expected to accelerate the pace of discovery setting the stage for the next generation of ASD studies.Molecular Psychiatry advance online publication, 18 June 2013; doi:10.1038/mp.2013.78.
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7. Eack SM, Bahorik AL, McKnight SA, Hogarty SS, Greenwald DP, Newhill CE, Phillips ML, Keshavan MS, Minshew NJ. {{Commonalities in social and non-social cognitive impairments in adults with autism spectrum disorder and schizophrenia}}. {Schizophr Res};2013 (Jun 12)
Autism spectrum disorder (ASD) and schizophrenia are both conditions that are characterized by impairments in social and non-social cognition, yet commonalities in the magnitude and domains of cognitive deficits across these two conditions remain unclear. This study examined neurocognitive and social-cognitive functioning in 47 outpatients with schizophrenia, 43 verbal adults with ASD, and 24 healthy volunteers. A comprehensive neuropsychological battery assessing processing speed, attention, memory, and problem-solving domains was administered along with a social-cognitive battery of emotion processing. Results demonstrated large and significant impairments in emotion processing and neurocognition relative to healthy individuals in participants with autism (d=-.97 and -1.71, respectively) and schizophrenia (d=-.65 and -1.48, respectively). No significant differences were observed between those with ASD and schizophrenia on any cognitive domain assessed, and the areas of greatest impairment were identical across both disorders and included slowness in speed of processing and an inability to understand emotions. These findings indicate a high degree of similarity in the cognitive challenges experienced by verbal adults with autism and schizophrenia, and the potential need for trans-diagnostic remediation approaches to enhance cognition in these conditions.
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8. Esposito G, Nakazawa J, Venuti P, Bornstein MH. {{Componential deconstruction of infant distress vocalizations via tree-based models: A study of cry in autism spectrum disorder and typical development}}. {Res Dev Disabil};2013 (Jun 14);34(9):2717-2724.
Understanding early episodes of cry is essential to improve caregiver-child interaction and child well-being. Caregiver perceptions of cry are based on interpretations of different acoustic characteristics of the cry, including the length of the pauses, the number of utterances, and the fundamental frequency. In this study, we used tree-based models to establish a hierarchy of effect in terms of how these acoustic characteristics influence perceptions of cries of children with autism compared to cries of typically developing children. In two studies, one in Italy and the other in Japan, we found that cries of children with autism are perceived more negatively. We also found that the length of the pauses, more than the number of utterances or fundamental frequency, determines listeners’ negative perceptions. Implications for early caregiver-child interactions are discussed.
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9. Fortea Sevilla MS, Escandell Bermudez MO, Castro Sanchez JJ. {{[Early detection of autism: professionals involved]}}. {Rev Esp Salud Publica};2013 (Apr);87(2):191-199.
Background: The importance of early detection in order to improve the prognosis of children with developmental disorders, especially autism spectrum disorders (ASD), has been widely proven, clearly followed by the corresponding intervention. The aim of this work is to define the age at which the first signs of an autism spectrum disorder show up, the professionals that families go to, as well as delays confirming a diagnosis and the celerity offered by paediatricians. Method: A transversal, retrospective study carried out in 2010 in the Canary Islands. The voluntary cooperation of family associations, and families that received treatment in specialized centres was requested. 72 « Questionnaires for families of people with autism » were gathered. A descriptive analysis of frequencies was carried out, using the statistics programme SPSS Statistics 19. Results: In 79% of the cases it was the family who first suspected there was something wrong with the children’s development, followed by teachers (15%) and health care staff (pediatricians 4% and psychologists, 2%). 69% of the children were first diagnosed before turning 3 years of age, 32% of them were diagnosed even before turning two years of age. The delay regarding diagnosis in the Canary Islands circa 16 months. Conclusions: Most parents of children with ASD were aware of the developmental disorders that their children were experiencing at around 18 months of age. A tendency to a faster response time by health care professionals was confirmed.
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10. Gadgil M, Peterson E, Tregellas J, Hepburn S, Rojas DC. {{Differences in global and local level information processing in autism: An fMRI investigation}}. {Psychiatry Res};2013 (Jun 12)
People with autism spectrum disorders (ASD) have atypical visual perception of global and local information. Previous neuroimaging studies have examined the functional anatomy of locally directed attention during visual processing in ASD, but few have examined differences in both globally and locally directed attention. We performed functional magnetic resonance imaging (fMRI) in 17 adults with ASD and 16 typically developing (TD) subjects to examine the neurobiology of both global- and local-level information processing in ASD using an abstract hierarchical design task. TD subjects showed no regions of increased brain activation relative to subjects with ASD as assessed using whole brain analysis. Subjects with ASD exhibited greater activation in right superior frontal gyrus during locally directed attention. During globally directed attention, the ASD group showed greater right lateral occipital activation. Additionally, subjects with ASD showed less deactivation in medial prefrontal cortex (part of the default mode network) in the globally directed attention condition. Our findings help elucidate networks of brain activation related to atyipcal global and local feature processing in ASD.
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11. Giarelli E, Fisher K. {{Transition to community by adolescents with Asperger syndrome: Staying afloat in a sea change}}. {Disabil Health J};2013 (Jul);6(3):227-235.
BACKGROUND: Transition to community (TC) is the movement out of secondary school to independent living or higher education. It is challenging for young people who have typical neurodevelopment and daunting for those who have neurodevelopmental characteristics associated with Asperger syndrome (AS). OBJECTIVE: This grounded theory study describes the phenomenon of transition to community among adolescents and young adults with AS. METHODS: Audiotaped interviews were transcribed verbatim and analyzed using constant comparison to explore the socially constructed phenomenon of TC. Our sample comprised 36 participants from four groups deemed central to the phenomenon including: individuals with AS age 18-22 years (N = 13), parents (n = 13); and five each of educators and potential employers. RESULTS: The core psychosocial problem of TC is to stay afloat while feeling « adrift. » This problem was experienced by the individual with AS, and parents and others were observers and facilitators. Adolescents, with the support of parents, teachers and sympathetic employers solved this problem by using three psychosocial processes of structuring, anchoring, and embarking. CONCLUSIONS: Clinicians who work with this population, potential employers, and educators are stakeholders who can apply our findings to the development of effective and personalized transition services. Findings from our study are grounded in the experiences of participants, and therefore, have explicit practical value. The conceptual model of TC can be used by health care providers, educators, employers and parents to guide adolescents as they transition to community.
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12. Happe F. {{International society for autism research news}}. {Autism Res};2013 (Jun);6(3):224.
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13. Hines M, Balandin S, Togher L. {{The Stories of Older Parents of Adult Sons and Daughters with Autism: A Balancing Act}}. {J Appl Res Intellect Disabil};2013 (Jun 17)
BACKGROUND: Researchers acknowledge the importance of understanding how families of children with autism cope. Yet, little is known about the experiences of older parents of adults with autism. MATERIALS AND METHODS: In-depth interviews were conducted with 16 older parents of adults with autism. Narrative analysis was used to gain insights into their lived experiences. RESULTS: Participants’ narratives reflected the notion that much of their experience was a delicate balancing act as they attempted to manage their offspring’s symptoms of autism whilst achieving a degree of fulfilment in their own lives. Parents did not believe that formal services had adequately supported their ability to provide care whilst meeting other needs within the family context. CONCLUSIONS: The findings have implications for services that attempt to support older parents’ abilities to provide care, including the need for tailored intervention strategies that match each family’s unique needs.
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14. Kameno Y, Iwata K, Matsuzaki H, Miyachi T, Tsuchiya KJ, Matsumoto K, Iwata Y, Suzuki K, Nakamura K, Maekawa M, Tsujii M, Sugiyama T, Mori N. {{Serum levels of soluble platelet endothelial cell adhesion molecule-1 and vascular cell adhesion molecule-1 are decreased in subjects with autism spectrum disorder}}. {Mol Autism};2013 (Jun 17);4(1):19.
BACKGROUND: Adhesion molecules, such as platelet-endothelial adhesion molecule-1 (PECAM-1), platelet selectin (P-selectin), endothelial selectin (E-selectin), intracellular adhesion molecule-1 (ICAM-1), and vascular cell adhesion molecule-1 (VCAM-1), are localized on the membranes of activated platelets and leukocytes and on the vascular endothelium. Recently, we measured serum levels of soluble (s) forms of adhesion molecules in adults,18 to 26 years old, with autism spectrum disorder (ASD) and observed low levels of sPECAM-1 and sP-selectin. A subsequent study showed a similar result in children two to four years old with ASD. However, information about school age (five to seventeen years old) ASD subjects is required to determine whether adhesion molecules are also reduced in individuals with ASD in this age range. FINDINGS: Twenty-two subjects with high-functioning ASD and 29 healthy age-matched controls were recruited. ELISA was used for sPECAM-1, and a suspension array system was used for sP-selectin, sE-selectin, sICAM-1 and sVCAM-1 measurements. We found that serum levels of sPECAM-1 (U = 91.0, P<0.0001 by Mann–Whitney U test) and sVCAM-1 (U = 168.0, P = 0.0042) were significantly lower in ASD subjects than in controls. Subsequently, we examined the correlations between serum levels of either sPECAM-1 or sVCAM-1 and clinical variables including Autism Diagnostic Interview – Revised subscores and our previous cytokine profile data from the same ASD subjects. However, we did not find any significant correlations between them. CONCLUSIONS: The present results, taken together with previous results, suggest that sPECAM-1 may play a role in the generation and development of ASD, beginning in childhood and lasting until adulthood.
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15. Lyst MJ, Ekiert R, Ebert DH, Merusi C, Nowak J, Selfridge J, Guy J, Kastan NR, Robinson ND, de Lima Alves F, Rappsilber J, Greenberg ME, Bird A. {{Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor}}. {Nat Neurosci};2013 (Jun 16)
Rett syndrome (RTT) is a severe neurological disorder that is caused by mutations in the MECP2 gene. Many missense mutations causing RTT are clustered in the DNA-binding domain of MeCP2, suggesting that association with chromatin is critical for its function. We identified a second mutational cluster in a previously uncharacterized region of MeCP2. We found that RTT mutations in this region abolished the interaction between MeCP2 and the NCoR/SMRT co-repressor complexes. Mice bearing a common missense RTT mutation in this domain exhibited severe RTT-like phenotypes. Our data are compatible with the hypothesis that brain dysfunction in RTT is caused by a loss of the MeCP2 ‘bridge’ between the NCoR/SMRT co-repressors and chromatin.
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16. Oristaglio J, West SH, Ghaffari M, Lech MS, Verma BR, Harvey JA, Welsh JP, Malone RP. {{Children with autism spectrum disorders show abnormal conditioned response timing on delay, but not trace, eyeblink conditioning}}. {Neuroscience};2013 (Jun 13)
Children with autism spectrum disorder (ASD) and age-matched typically-developing (TD) peers were tested on two forms of eyeblink conditioning (EBC), a Pavlovian associative learning paradigm where subjects learn to execute an appropriately-timed eyeblink in response to a previously neutral conditioning stimulus (CS). One version of the task, trace EBC, interposes a stimulus-free interval between the presentation of the CS and the unconditioned stimulus (US), a puff of air to the eye which causes subjects to blink. In delay EBC, the CS overlaps in time with the delivery of the US, usually with both stimuli terminating simultaneously. ASD children performed normally during trace EBC, exhibiting no differences from typically-developing (TD) subjects with regard to learning rate or the timing of the CR. However, when subsequently tested on delay EBC, subjects with ASD displayed abnormally-timed conditioned eye blinks that began earlier and peaked sooner than those of TD subjects, consistent with previous findings. The results suggest an impaired ability of children with ASD to properly time conditioned eye blinks which appears to be specific to delay EBC. We suggest that this deficit may reflect a dysfunction of cerebellar cortex in which increases in the intensity or duration of sensory input can temporarily disrupt the accuracy of motor timing over short temporal intervals.
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17. Ouellette-Kuntz H, Coo H, Lam M, Breitenbach MM, Hennessey PE, Jackman PD, Lewis ME, Dewey D, Bernier FP, Chung AM. {{The changing prevalence of autism in three regions of Canada}}. {J Autism Dev Disord};2013 (Jun 16)
In 2002/2003, the National Epidemiologic Database for the Study of Autism in Canada started capturing information on children diagnosed with autism in different regions of the country. Based on data collected through 2008 in Newfoundland and Labrador and 2010 in Prince Edward Island and Southeastern Ontario, the estimated average annual percent increases in prevalence among children 2-14 years of age ranged from 9.7 % (95 % CI 7.8-11.6) to 14.6 % (95 % CI 11.3-18.0). Differential in-migration and identification of previously undetected cases may have contributed in part to the increases observed, but we cannot rule out the possibility of a true increase in incidence, particularly given the lack of a leveling-off of prevalence among the 6- to 9-year olds.
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18. Persico AM, Napolioni V. {{Autism genetics}}. {Behav Brain Res};2013 (Jun 12)
Autism spectrum disorder (ASD) is a severe neuropsychiatric disease with strong genetic underpinnings. However, genetic contributions to autism are extremely heterogeneous, with many different loci underlying the disease to a different extent in different individuals. Moreover, the phenotypic expression (i.e., « penetrance ») of these genetic components is also highly variable, ranging from fully penetrant point mutations to polygenic forms with multiple gene-gene and gene-environment interactions. Furthermore, many genes involved in ASD are also involved in intellectual disability, further underscoring their lack of specificity in phenotypic expression. We shall hereby review current knowledge on the genetic basis of ASD, spanning genetic/genomic syndromes associated with autism, monogenic forms due to copy number variants (CNVs) or rare point mutations, mitochondrial forms, and polygenic autisms. Finally, the recent contributions of genome-wide association and whole exome sequencing studies will be highlighted.
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19. Robertson K, Stafford T, Benedicto J, Hocking N. {{Autism assessment: The Melton Health model}}. {J Paediatr Child Health};2013 (Jun 19)
AIM: The following paper describes the Autism Spectrum Assessment Clinic which operates at Melton Health, a publically funded health service in Melbourne’s west. METHODS: A retrospective audit of 234 children assessed between 2007 and 2012 in the Autism Spectrum Assessment Clinic was undertaken. Characteristics of the children assessed (age, sex, locality, referral source) were examined along with characteristics of the clinic (clinicians, assessment outcome). RESULTS: A detailed description of the model is provided, including evident changes since the clinic began. Data were split between the 2007 to 2009 and 2010 to 2012 time periods to reflect changes in the operation of the clinic. Overall, 48 girls and 186 boys were assessed with a mean age of 71 months; the average waiting time between referral and assessment was 136.6 days. Across the two time periods, the proportion of children receiving a diagnosis of autism spectrum disorder increased from 43.1% to 66.3%. Changes are evident in the referral sources between the two time periods, and in the disciplines of clinicians involved in the assessment. CONCLUSIONS: The research illustrates an assessment model, within the Victorian public health context, which currently operates effectively according to best-practice guidelines. This research begins to fill a gap between localised clinical practice and the dissemination of this information to a wider audience, allowing for comparison for other assessment providers. It is hoped that we can contribute more broadly to future assessment processes becoming more consistent, reproducible and equitable for children suspected of having autism spectrum disorders.
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20. Siniscalco D, Bradstreet JJ, Antonucci N. {{Therapeutic role of hematopoietic stem cells in autism spectrum disorder-related inflammation}}. {Front Immunol};2013;4:140.
Autism and autism spectrum disorders (ASDs) are heterogeneous, severe neuro-developmental disorders with core symptoms of dysfunctions in social interactions and communication skills, restricted interests, repetitive – stereotypic verbal and non-verbal behaviors. Biomolecular evidence points to complex gene-environmental interactions in ASDs. Several biochemical processes are associated with ASDs: oxidative stress (including endoplasmic reticulum stress), decreased methylation capacity, limited production of glutathione; mitochondrial dysfunction, intestinal dysbiosis, increased toxic metal burden, and various immune abnormalities. The known immunological disorders include: T-lymphocyte populations and function, gene expression changes in monocytes, several autoimmune-related findings, high levels of N-acetylgalactosaminidase (which precludes macrophage activation), and primary immune deficiencies. These immunological observations may result in minicolumn structural changes in the brain, as well as, abnormal immune mediation of synaptic functions. Equally, these immune dysregulations serve as the rationale for immune-directed interventions such as hematopoietic stem cells (HSCs), which are pivotal in controlling chronic inflammation and in the restoration of immunological balance. These properties make them intriguing potential agents for ASD treatments. This prospective review will focus on the current state-of-the-art knowledge and challenges intrinsic in the application of HSCs for ASD-related immunological disorders.
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21. Stam AJ, Schothorst PF, Vorstman JA, Staal WG. {{The genetic overlap of attention deficit hyperactivity disorder and autistic spectrum disorder}}. {Appl Clin Genet};2009;2:7-13.
Autistic spectrum disorders (ASD) and attention deficit hyperactivity disorder (ADHD) are classified as distinct disorders within the DSM-IV-TR (1994). The manual excludes simultaneous use of both diagnoses in case of overlap on a symptomatic level. However this does not always represent clinical observations and findings of previous studies. This review explores the genetic basis of the phenomenological overlap between ADHD and ASD. Based on an extensive review of twin-, linkage-, association studies, and reported structural genomic abnormalities associated with these disorders, we have identified seventeen regions on the human genome that can be related to both disorders. These regions of shared genetic association are: 2q35, 3p14, 4p16.1, 4p16.3, 5p15.31, 5p15.33, 7p12.3, 7p22, 7q21, 8q24.3, 14q12, 15q11-12, 16p13, 17q11, 18q21-23, 22q11.2, Xp22.3. The presented data are of interest for future genetic studies and appear to suggest the existence of a phenotype partition that may differ from the current classification of psychiatric disorders.
22. Sung M, Ooi YP, Law GC, Goh TJ, Weng SJ, Sriram B. {{Features of autism in a singaporean child with down syndrome}}. {Ann Acad Med Singapore};2013 (May);42(5):251-252.
23. Vogt T, Schneider S, Anneken V, Struder HK. {{Moderate cycling exercise enhances neurocognitive processing in adolescents with intellectual and developmental disabilities}}. {Res Dev Disabil};2013 (Jun 13);34(9):2708-2716.
Research has shown that physical exercise enhances cognitive performance in individuals with intact cognition as well as in individuals diagnosed with intellectual and developmental disabilities. Although well identified in the field of health (for example, the transient hypofrontality theory), the underlying neurocognitive processes in intellectual and developmental disabilities remain widely unclear and thus characterize the primary aim of this research. Eleven adolescents with intellectual and developmental disabilities performed moderate cycling exercise and common relaxation. Cross-over designed, both 10-min meetings were randomly allocated at the same time of day with 24-h time lags in between. Conditions were embedded in ability-modified cognitive performance (decision-making processes). Participants’ reaction times and their equivalent neurophysiological parameters were recorded using standard EEG and analyzed (spatial activity, N2). Exercise revealed a decrease in frontal electrocortical activity, most pronounced in the medial frontal gyrus (10%). To that effect, reaction time (p<0.01) was decreased and mirrored in decreased N2 latency (p<0.01) after exercise. In contrast, relaxation revealed no significant changes. Results of this research suggest exercise temporarily enhances neuronal activity in relation to cognitive performance for adolescents with intellectual and developmental disabilities; further research is needed to explore possible future effects on enhancing neurocognitive development.
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24. Wachtel LE, Schuldt S, Ghaziuddin N, Shorter E. {{The potential role of electroconvulsive therapy in the ‘Iron Triangle’ of pediatric catatonia, autism, and psychosis}}. {Acta Psychiatr Scand};2013 (Jun 17)
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25. Wohr M, Scattoni ML. {{Models of Autism Spectrum Disorders: Current Standards and New Developments}}. {Behav Brain Res};2013 (Jun 12)
Autism is a behaviourally defined disorder including attenuated or abnormal social interaction and communication, as well as aberrant repetitive behaviour, with symptoms emerging early in childhood. Although the cause of autism has not been discovered, several data strongly support the role of genetic factors in autism aetiology. For this reason, preclinical research is now focusing on generating transgenic and knockout mice, and more recently also rats, with mutations in genes identified in autistic children, with the main aim of understanding the role of those genes in autism aetiology, discovering the biological mechanisms underlying autistic behaviours detected in these mutant lines and evaluating potential treatments. Over the last years, a huge number of behavioural phenotyping assays for rodent models of autism and related disorders have been designed. In the first part of our review, we focus on current standards, i.e. state-of-the-art behavioural phenotyping tasks to assess autism core symptoms in rodent models. The second part is devoted to some few, in our view, very promising examples of new developments, namely an autism severity score, scent marking behaviour as an additional, ethologically valid measure for communication, plus a number of new developments in the behavioural domains of social facilitation, observational learning, and empathy. Finally, we will highlight the huge potential impact of newly generated rat knockout models of autism.
