1. {{Editor(s), Journal of Intellectual & Developmental Disability}}. {J Intellect Dev Disabil};2013 (Mar);38(1):92.
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2. Al-Farsi YM, Waly MI, Deth RC, Al-Sharbati MM, Al-Shafaee M, Al-Farsi O, Al-Khaduri MM, Gupta I, Ali A, Al-Khalili M, Al-Adawi S, Hodgson NW, Ouhtit A. {{Low folate and vitamin B12 nourishment is common in Omani children with newly diagnosed autism}}. {Nutrition};2013 (Mar);29(3):537-541.
OBJECTIVE: Arab populations lack data related to nutritional assessment in children with autism spectrum disorders (ASDs), especially micronutrient deficiencies such as folate and vitamin B12. METHODS: To assess the dietary and serum folate and vitamin B12 statuses, a hospital-based case-control study was conducted in 80 Omani children (40 children with ASDs versus 40 controls). RESULTS: The ASD cases showed significantly lower levels of folate, vitamin B12, and related parameters in dietary intake and serum levels. CONCLUSION: These data showed that Omani children with ASDs exhibit significant deficiencies in folate and vitamin B12 and call for increasing efforts to ensure sufficient intakes of essential nutrients by children with ASDs to minimize or reverse any ongoing impact of nutrient deficiencies.
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3. Atbasoglu EC, Sakarya D, Gumus Akay G, Sakarya A, Tukun A. {{[Fragile x premutation in adult psychiatry: four cases and overview of clinical presentation]}}. {Turk Psikiyatri Derg};2013 (Spring);24(1):63-67.
Fragile X carrier status, also named as Fragile X premutation (FraX-PM), is defined by trinucleotide repeat expansions of shorter length compared to those that cause the full syndrome. Its clinical significance has been limited to the risk of further expansion to a full mutation in the offspring of carriers, until it was recently recognized as a clinical syndrome on its own, manifested by unique symptom constellations, as well as a combination of neuropsychiatric signs and symptoms that may be indistinguishable from several commonly seen disorders. The complex heterogeneity of its neuropsychiatric manifestations may render the diagnosis challenging, unless the clinician is familiar with the clinical picture and transmission pattern. We present four cases of FraX-PM, diagnosed in an adult psychiatry setting and confirmed by genetic testing. The aim of this report is to increase familiarity among psychiatric practitioners, since this common condition is seldom included in the current diagnostic practice, which is based on atheoretical definitions.
4. Beaulieu MA. {{Linking the fragile X mental retardation protein to the lipoxygenase pathway}}. {Med Hypotheses};2013 (Mar);80(3):289-291.
Fragile X mental retardation is caused by the absence of the FMRP (fragile X mental retardation protein) a RNA-binding protein encoded by the Fmr1 gene. Despite the large number of studies about this syndrome, it is still unclear how the absence of FMRP affects the physiology of the nervous system. It has been reported however that the brain of the Fmr1-KO mouse shows altered membrane protein and lipid oxidation. There is also indirect evidence that FMRP may be involved in a negative feedback mechanism with metabotropic glutamate receptors (mGluRs). In this article, we will discuss several lines of evidences which tend to prove that the lipoxygenase pathway might be the missing link between FMRP and mGluRs.
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5. Becerra TA, Wilhelm M, Olsen J, Cockburn M, Ritz B. {{Ambient air pollution and autism in los angeles county, california}}. {Environ Health Perspect};2013 (Mar);121(3):380-386.
Background: The prevalence of autistic disorder (AD), a serious developmental condition, has risen dramatically over the past two decades, but high-quality population-based research addressing etiology is limited.Objectives: We studied the influence of exposures to traffic-related air pollution during pregnancy on the development of autism using data from air monitoring stations and a land use regression (LUR) model to estimate exposures.Methods: Children of mothers who gave birth in Los Angeles, California, who were diagnosed with a primary AD diagnosis at 3-5 years of age during 1998-2009 were identified through the California Department of Developmental Services and linked to 1995-2006 California birth certificates. For 7,603 children with autism and 10 controls per case matched by sex, birth year, and minimum gestational age, birth addresses were mapped and linked to the nearest air monitoring station and a LUR model. We used conditional logistic regression, adjusting for maternal and perinatal characteristics including indicators of SES.Results: Per interquartile range (IQR) increase, we estimated a 12-15% relative increase in odds of autism for ozone [odds ratio (OR) = 1.12, 95% CI: 1.06, 1.19; per 11.54-ppb increase] and particulate matter </= 2.5 microm (OR = 1.15; 95% CI: 1.06, 1.24; per 4.68-mug/m3 increase) when mutually adjusting for both pollutants. Furthermore, we estimated 3-9% relative increases in odds per IQR increase for LUR-based nitric oxide and nitrogen dioxide exposure estimates. LUR-based associations were strongest for children of mothers with less than a high school education.Conclusion: Measured and estimated exposures from ambient pollutant monitors and LUR model suggest associations between autism and prenatal air pollution exposure, mostly related to traffic sources.
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6. Bennett KD, Ramasamy R, Honsberger T. {{The effects of covert audio coaching on teaching clerical skills to adolescents with autism spectrum disorder}}. {J Autism Dev Disord};2013 (Mar);43(3):585-593.
Employment instruction for secondary students with autism spectrum disorder (ASD) has received very little attention in the professional literature. However, adults with ASD usually have difficulty maintaining employment for a variety of reasons, including problems with performing work tasks. This study used a multiple baseline design across participants to examine the effects of performance feedback on the participants’ ability to independently make photocopies. Feedback was delivered privately through a two-way radio and earbud speaker. The results support the conclusion that the intervention, covert audio coaching, was effective in increasing the participants’ accuracy in making photocopies. Specifically, participants demonstrated mastery of the skill within 4-5 sessions, and their improvements maintained for several weeks following intervention.
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7. Berger KA. {{Resource list for cognitive motor and sensory supports in persons with autism}}. {Front Integr Neurosci};2013;7:7.
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8. Bishop-Fitzpatrick L, Minshew NJ, Eack SM. {{A systematic review of psychosocial interventions for adults with autism spectrum disorders}}. {J Autism Dev Disord};2013 (Mar);43(3):687-694.
Individuals with autism spectrum disorders (ASD) spend the majority of their lives as adults, and psychosocial interventions show promise for improving outcomes in this population. This research conducted a systematic review of all peer-review studies evaluating psychosocial interventions for adults with ASD. A total of 1,217 studies were reviewed, only 13 met inclusion criteria. The majority of studies were single case studies or non-randomized controlled trials, and most focused on applied behavior analysis or social cognition training. Effects of psychosocial treatment in adults with ASD were largely positive ranging from d = 0.14-3.59, although the quantity and quality of studies is limited. There is substantial need for the rigorous development and evaluation of psychosocial treatments for adults with ASD.
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9. Blake J, Hoyme HE, Crotwell PL. {{A brief history of autism, the autism/vaccine hypothesis and a review of the genetic basis of autism spectrum disorders}}. {S D Med};2013;Spec no:58-65.
Autism spectrum disorders (ASD) represent a common spectrum of developmental disabilities, sharing deficits in social interactions, communication and restricted interests or repetitive behaviors with difficult transitions. In this article, we review the history of the identification and classification of autism and the origin of the now widely-debunked autism/vaccine hypothesis. The differences between syndromal (complex) and non-syndromal (essential) autism are described and illustrated with case descriptions where appropriate. Finally, the evidence that autism is fundamentally a genetic disease is discussed, including family studies, the role of DNA copy number variation and known single gene mutations.
10. Boccuto L, Lauri M, Sarasua SM, Skinner CD, Buccella D, Dwivedi A, Orteschi D, Collins JS, Zollino M, Visconti P, Dupont B, Tiziano D, Schroer RJ, Neri G, Stevenson RE, Gurrieri F, Schwartz CE. {{Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders}}. {Eur J Hum Genet};2013 (Mar);21(3):310-316.
Autism spectrum disorders (ASDs) include three main conditions: autistic disorder (AD), pervasive developmental disorder, not otherwise specified (PDD-NOS), and Asperger syndrome. It has been shown that many genes associated with ASDs are involved in the neuroligin-neurexin interaction at the glutamate synapse: NLGN3, NLGN4, NRXN1, CNTNAP2, and SHANK3. We screened this last gene in two cohorts of ASD patients (133 patients from US and 88 from Italy). We found 5/221 (2.3%) cases with pathogenic alterations: a 106 kb deletion encompassing the SHANK3 gene, two frameshift mutations leading to premature stop codons, a missense mutation (p.Pro141Ala), and a splicing mutation (c.1820-4 G>A). Additionally, in 17 patients (7.7%) we detected a c.1304+48C>T transition affecting a methylated cytosine in a CpG island. This variant is reported as SNP rs76224556 and was found in both US and Italian controls, but it results significantly more frequent in our cases than in the control cohorts. The variant is also significantly more common among PDD-NOS cases than in AD cases. We also screened this gene in an independent replication cohort of 104 US patients with ASDs, in which we found a missense mutation (p.Ala1468Ser) in 1 patient (0.9%), and in 8 patients (7.7%) we detected the c.1304+48C>T transition. While SHANK3 variants are present in any ASD subtype, the SNP rs76224556 appears to be significantly associated with PDD-NOS cases. This represents the first evidence of a genotype-phenotype correlation in ASDs and highlights the importance of a detailed clinical-neuropsychiatric evaluation for the effective genetic screening of ASD patients.
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11. Carotenuto M, Esposito M, D’Aniello A, Rippa CD, Precenzano F, Pascotto A, Bravaccio C, Elia M. {{Polysomnographic findings in Rett syndrome: a case-control study}}. {Sleep Breath};2013 (Mar);17(1):93-98.
PURPOSE: Rett syndrome is a severe neurodevelopmental disorder mainly affecting females and usually linked to mutations in the methyl-CpG-binding protein 2 gene, with an estimated prevalence of 1 in 10,000 live female births. Clinical features which usually become more apparent over time include breathing dysfunction, seizures, spasticity, peripheral vasomotor disturbance, scoliosis, growth retardation, and hypotrophic feet, with a great variety of presentations. The clear immaturity in brainstem mechanisms is expressed by the presence of early sleep disorders such as nocturnal awakenings, bruxism, and difficulty falling asleep, and no conclusive findings were derived from the few polysomnographic studies about the sleep macrostructural aspects. The aim of this study is to analyze the sleep macrostructural parameters, the nocturnal respiratory characteristic, and the presence of periodic limb movements in a sample of children affected by Rett syndrome. MATERIALS: Thirteen Rett subjects underwent a polysomnographic study, and the findings were compared with those obtained by a group of 40 healthy children. RESULTS: The Rett group shows a great impairment in sleep macrostructural and respiratory parameters, with a higher percentage of pathological periodic limb movements than the controls. CONCLUSIONS: This study may be considered a report about the ventilatory impairment during sleep in Rett syndrome and the first approach to the macrostructural aspects of sleep supported by the PSG data that could be considered mandatory for a better comprehension of this very complex syndrome.
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12. Cheak-Zamora NC, Yang X, Farmer JE, Clark M. {{Disparities in transition planning for youth with autism spectrum disorder}}. {Pediatrics};2013 (Mar);131(3):447-454.
OBJECTIVE: Little is known about accessibility to health care transition (HCT) services for youth with autism spectrum disorder (ASD). This study expands our understanding by examining the receipt of HCT services in youth with ASD compared with youth with other special health care needs (OSHCN). METHODS: We used the 2005-2006 National Survey of Children with Special Health Care Needs to examine receipt of HCT services for youth (aged 12-17 years) with ASD and youth with OSHCN. Logistic regression analyses explored whether individual, family, or health system factors were associated with receipt of HCT services for youth with ASD. RESULTS: Whereas half of youth with OSHCN received HCT services, less than a quarter of youth with ASD did. Only 14% of youth with ASD had a discussion with their pediatrician about transitioning to an adult provider, less than a quarter had a discussion about health insurance retention, and just under half discussed adult health care needs or were encouraged to take on appropriate responsibility. Logistic regression analyses indicated that having a developmental disability or multiple health conditions in addition to ASD and quality of health care were strong predictors of HCT, whereas demographic and family variables accounted for little variance. CONCLUSIONS: Youth with ASD experience disparities in access to HCT services. Youth with comorbid conditions are at greatest risk for poor access to HCT services and increased quality of care has a positive effect. Research is needed to understand barriers to care and develop policy and practice guidelines tailored for youth with ASD.
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13. Clery H, Bonnet-Brilhault F, Lenoir P, Barthelemy C, Bruneau N, Gomot M. {{Atypical visual change processing in children with autism: An electrophysiological Study}}. {Psychophysiology};2013 (Mar);50(3):240-252.
Children with Autism Spectrum Disorder (ASD) may display atypical behaviors in reaction to unattended changes that occur in all sensory modalities. Atypical automatic auditory change processing has been highlighted in ASD via the analysis of mismatch negativity (MMN). The present study investigated visual deviancy detection in children with ASD in order to determine whether unusual reactions to change operate in other sensory modalities. Twelve children with ASD were presented with a passive visual oddball paradigm using dynamic stimuli. Compared to controls, children with ASD showed an earlier visual mismatch response, suggesting a hypersensitivity to visual deviancy. This study is thus consistent with the hypothesis of the existence of « general » atypical change detection processing in children with ASD that might contribute to their intolerance of change.
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14. Clifford SM, Hudry K, Elsabbagh M, Charman T, Johnson MH. {{Temperament in the first 2 years of life in infants at high-risk for autism spectrum disorders}}. {J Autism Dev Disord};2013 (Mar);43(3):673-686.
The current study investigated early temperament in 54 infants at familial high-risk of ASD and 50 controls. Parental report of temperament was assessed around 7, 14 and 24 months of age and diagnostic assessment was conducted at 3 years. The high-risk group showed reduced Surgency at 7 and 14 months and reduced Effortful Control at 14 and 24 months, compared to controls. High-risk infants later diagnosed with ASD were distinguished from controls by a temperament profile marked by increased Perceptual Sensitivity from the first year of life, and increased Negative Affect and reduced Cuddliness in the second year of life. Temperament may be an important construct for understanding the early infant development of ASD.
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15. Coffey MJ. {{Resolution of self-injury with phenytoin in a man with autism and intellectual disability: the role of frontal lobe seizures and catatonia}}. {J ECT};2013 (Mar);29(1):e12-13.
ABSTRACT: Self-injurious behaviors are common, distressing features of developmental disorders. Safe and effective therapies are needed, and the pathophysiology is not well understood. We present a young man with autism who developed self-injurious behaviors due to frontal lobe seizures that resolved with phenytoin.
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16. Conde V, Palomar FJ, Lama MJ, Martinez R, Carrillo F, Pintado E, Mir P. {{Abnormal GABA-mediated and cerebellar inhibition in women with the fragile X premutation}}. {J Neurophysiol};2013 (Mar);109(5):1315-1322.
The fragile X syndrome is a mutation-driven developmental disorder caused by a repetition over 200 times of the CGG trinucleotide situated in the 5′-untranslated region of the fragile X mental retardation 1 gene (FMR1). The interval between 55 and 199 CGG repeats, which is over the normal range but below full mutation, is named fragile X premutation. Recent studies have focused on the asymptomatic state of fragile X premutation carriers and their potentially relevant preclinical features. However, the underlying neurological mechanisms leading to altered functions in fragile X premutation carriers are still poorly understood. In this study, we wanted to test the hypothesis that asymptomatic women who carry the fragile X premutation present GABAergic and cerebellar abnormalities compared with healthy women without the premutation. We performed noninvasive brain stimulation protocols on both asymptomatic fragile X premutation carriers and controls comprising of measures of GABA- and GABA-mediated intracortical inhibition, afferent inhibition, and cerebello-motor functional interactions. Premutation carriers presented an absence of cerebellar inhibition over primary motor cortex as well as a reduced GABA-mediated intracortical and afferent inhibition compared with healthy nonpremutated controls. These alterations are most probably dependent on a dysfunctional GABAergic mechanism associated with the fragile X premutation condition as previously found in CGG-repeat animal models. Furthermore, the lack of cerebello-motor inhibition could be related to the cerebellar structural abnormalities previously found in carriers of the premutation.
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17. Das DK, Mehta B, Menon SR, Raha S, Udani V. {{Novel Mutations in Cyclin-Dependent Kinase-Like 5 (CDKL5) Gene in Indian Cases of Rett Syndrome}}. {Neuromolecular Med};2013 (Mar);15(1):218-225.
Rett syndrome is a severe neurodevelopmental disorder, almost exclusively affecting females and characterized by a wide spectrum of clinical manifestations. Both the classic and atypical forms of Rett syndrome are primarily due to mutations in the methyl-CpG-binding protein 2 (MECP2) gene. Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified in patients with atypical Rett syndrome, X-linked infantile spasms sharing common features of generally early-onset seizures and mental retardation. CDKL5 is known as serine/threonine protein kinase 9 (STK9) and is mapped to the Xp22 region. It has a conserved serine/threonine kinase domain within its amino terminus and a large C-terminal region. Disease-causing mutations are distributed in both the amino terminal domain and in the large C-terminal domain. We have screened the CDKL5 gene in 44 patients with atypical Rett syndrome who had tested negative for MECP2 gene mutations and have identified 6 sequence variants, out of which three were novel and three known mutations. Two of these novel mutations p.V966I and p.A1011V were missense and p.H589H a silent mutation. Other known mutations identified were p.V999M, p.Q791P and p.T734A. Sequence homology for all the mutations revealed that the two mutations (p.Q791P and p.T734A) were conserved across species. This indicated the importance of these residues in structure and function of the protein. The damaging effects of these mutations were analysed in silico using PolyPhen-2 online software. The PolyPhen-2 scores of p.Q791P and p.T734A were 0.998 and 0.48, revealing that these mutations could be deleterious and might have potential functional effect. All other mutations had a low score suggesting that they might not alter the activity of CDKL5. We have also analysed the position of the mutations in the CDKL5 protein and found that all the mutations were present in the C-terminal domain of the protein. The C-terminal domain is required for cellular localization through protein-protein interaction; any mutations in this domain might alter this function of the protein. This is the first report from India showing the mutation in CDKL5 gene in Indian cases of Rett syndrome. Our study emphasizes the role of CDKL5 mutation screening in cases of atypical Rett syndrome with congenital seizure variant.
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18. Depino AM. {{Peripheral and central inflammation in autism spectrum disorders}}. {Mol Cell Neurosci};2013 (Mar);53:69-76.
Recent reports have given a central role to environmental factors in the etiology of autism spectrum disorders (ASD). However, most proposed perinatal factors seem to converge into the activation of the immune system, suggesting that an early inflammatory response could be a unifying factor in the etiology ASD. Here I review the evidence of early immune activation in individuals with ASD, and the chronic peripheral and central alterations observed in the inflammatory response in ASD. This evidence shows that ASD is associated with altered neuroinflammatory processes and abnormal immune responses in adulthood. How these immune alterations can affect developmental programming of adult behavior or directly affect behavior later in life is discussed in the context of both clinical and animal models of research. Recent studies in rodents clearly support a role of elevated cytokines in the behavioral symptoms of ASD, both during development and in adulthood. This article is part of a Special Issue entitled ‘Neuroinflammation in neurodegeneration and neurodysfunction’.
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19. Dickstein DP, Pescosolido MF, Reidy BL, Galvan T, Kim KL, Seymour KE, Laird AR, Di Martino A, Barrett RP. {{Developmental meta-analysis of the functional neural correlates of autism spectrum disorders}}. {J Am Acad Child Adolesc Psychiatry};2013 (Mar);52(3):279-289 e216.
OBJECTIVE: There is a pressing need to elucidate the brain-behavior interactions underlying autism spectrum disorders (ASD) given the marked rise in ASD diagnosis over the past decade. Functional magnetic resonance imaging (fMRI) has begun to address this need, but few fMRI studies have evaluated age-related changes in ASD. Therefore, we conducted a developmental analysis of activation likelihood estimation (ALE) meta-analysis to compare child versus adult ASD fMRI studies. We hypothesized that children and adolescents with ASD (<18 years old) would rely less on prefrontal cortex structures than adults (>/=18 years old). METHOD: PubMed and PsycInfo literature searches were conducted to identify task-dependent fMRI studies of children or adults with ASD. Then recent GingerALE software improvements were leveraged to perform direct comparisons of child (n = 18) versus adult (n = 24) studies. RESULTS: ALE meta-analyses of social tasks showed that children and adolescents with ASD versus adults had significantly greater hyperactivation in the left post-central gyrus, and greater hypoactivation in the right hippocampus and right superior temporal gyrus. ALE meta-analyses of nonsocial tasks showed that children with ASD versus adults had significantly greater hyperactivation in the right insula and left cingulate gyrus, and hypoactivation in the right middle frontal gyrus. CONCLUSION: Our data suggest that the neural alterations associated with ASD are not static, occurring only in early childhood. Instead, children with ASD have altered neural activity compared to adults during both social and nonsocial tasks, especially in fronto-temporal structures. Longitudinal neuroimaging studies are required to examine these changes prospectively, as potential targets for brain-based treatments for ASD.
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20. Flight MH. {{Neurodevelopmental disorders: Lovastatin as fragile X therapy}}. {Nat Rev Neurosci};2013 (Mar);14(3):156.
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21. Frye RE, Sequeira JM, Quadros EV, James SJ, Rossignol DA. {{Cerebral folate receptor autoantibodies in autism spectrum disorder}}. {Mol Psychiatry};2013 (Mar);18(3):369-381.
Cerebral folate deficiency (CFD) syndrome is a neurodevelopmental disorder typically caused by folate receptor autoantibodies (FRAs) that interfere with folate transport across the blood-brain barrier. Autism spectrum disorders (ASDs) and improvements in ASD symptoms with leucovorin (folinic acid) treatment have been reported in some children with CFD. In children with ASD, the prevalence of FRAs and the response to leucovorin in FRA-positive children has not been systematically investigated. In this study, serum FRA concentrations were measured in 93 children with ASD and a high prevalence (75.3%) of FRAs was found. In 16 children, the concentration of blocking FRA significantly correlated with cerebrospinal fluid 5-methyltetrahydrofolate concentrations, which were below the normative mean in every case. Children with FRAs were treated with oral leucovorin calcium (2 mg kg(-1) per day; maximum 50 mg per day). Treatment response was measured and compared with a wait-list control group. Compared with controls, significantly higher improvement ratings were observed in treated children over a mean period of 4 months in verbal communication, receptive and expressive language, attention and stereotypical behavior. Approximately one-third of treated children demonstrated moderate to much improvement. The incidence of adverse effects was low. This study suggests that FRAs may be important in ASD and that FRA-positive children with ASD may benefit from leucovorin calcium treatment. Given these results, empirical treatment with leucovorin calcium may be a reasonable and non-invasive approach in FRA-positive children with ASD. Additional studies of folate receptor autoimmunity and leucovorin calcium treatment in children with ASD are warranted.
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22. Fulton ML, D’Entremont B. {{Utility of the Psychoeducational Profile-3 for Assessing Cognitive and Language Skills of Children with Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Feb 28)
The Psychoeducational Profile-3’s (PEP-3) ability to estimate cognitive and language skills of 136 children (20-75 months) with autism spectrum disorders (ASDs) across a range of functioning, and the association between the PEP-3 and ASD symptomatology was examined using retrospective data. PEP-3 cognitive and language measures were positively correlated with similar measures on the Child Development Inventory, the Merrill-Palmer Revised, and the Vineland Adaptive Behaviour Scale-2. The PEP-3 sometimes provided higher or lower estimates than other measures. Significant differences were found between diagnostic groups on PEP-3 cognitive and language measures. PEP-3 cognitive scores correlated positively with scores on the Autism Diagnostic Observation Schedule. Findings support the use of the PEP-3 to measure cognition and language in children with ASDs.
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23. Garcia-Penas JJ, Carreras-Saez I. {{[Autism, epilepsy and tuberous sclerosis complex: a functional model linked to mTOR pathway.]}}. {Rev Neurol};2013 (Feb 22);56(S01):S153-S161.
INTRODUCTION. Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that results from mutations in the TSC1 or TSC2 genes and is associated with hamartoma formation in multiple organ systems. Brain disorders are the origin of more frequent and severe problems and include infantile spasms, intractable epilepsy, brain tumors, cognitive disabilities, and autism. TSC1 or TSC2 encoded proteins modulate cell function via the mTOR signaling cascade and serve as keystones in regulating cell growth and proliferation. AIM. To review the etiopathogenic mechanisms and the natural course of the association of autism and epilepsy in TSC. DEVELOPMENT. Both the clinical and the neuroimaging findings of TSC, including early onset epilepsy and the localization of cortical tubers in the temporal lobes, and the molecular understanding of the mTOR signaling pathway, not only involved in cell growth, but also in synaptogenesis, synaptic plasticity and neuronal functioning, have suggested a multimodal origin of autism in these patients. CONCLUSIONS. A greater understanding of the pathogenetic mechanisms underlying autism in TSC could help in devising targeted and potentially more effective treatment strategies. Antagonism of the mTOR pathway with rapamycin and everolimus may provide new therapeutic options for these TSC patients.
24. Gephart EF, Loman DG. {{Use of prevention and prevention plus weight management guidelines for youth with developmental disabilities living in group homes}}. {J Pediatr Health Care};2013 (Mar);27(2):98-108.
INTRODUCTION: Prevention and Prevention Plus strategies for weight management were implemented for youth with developmental disabilities living in community group homes at a Midwestern educational/residential center. METHODS: Caregiver staff were provided with weight management education, a communication tool for youth weight indices, weight and physical activity goals, dietary orders, and monthly follow-up communication. This 4-month study examined changes in weight indices, nutrition, physical activity, and staff perceptions of youth status using t tests, chi(2) tests, and Wilcoxon signed-rank tests. RESULTS: A significant decrease in mean body mass index percentile was found (t(39) = 2.93, p < .01, 95% confidence interval 1.29 to 7.04) that was primarily from change in the healthy weight category. More than 80% of the 40 youth achieved their weight goal. A significant improvement in daily fruit consumption ( p = .001) and vegetable consumption ( p < .001) was reported. DISCUSSION: These prevention strategies are useful to promote staff understanding of dietary goals for weight management in youth with developmental disabilities living in group homes and should be incorporated into practice by health care providers. Additional efforts are needed to increase physical activity during the winter months.
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25. Giraldez-Perez RM, Avila MN, Feijoo-Cuaresma M, Heredia R, De Diego-Otero Y, Real MA, Guirado S. {{Males but not females show differences in calbindin immunoreactivity in the dorsal thalamus of the mouse model of fragile X syndrome}}. {J Comp Neurol};2013 (Mar 1);521(4):894-911.
Fragile X syndrome (FXS), the most common form of inherited mental retardation, is caused by the loss of the Fmr1 gene product, fragile X mental retardation protein. Here we analyze the immunohistochemical expression of calcium-binding proteins in the dorsal thalamus of Fmr1 knockout mice of both sexes and compare it with that of wildtype littermates. The spatial distribution pattern of calbindin-immunoreactive cells in the dorsal thalamus was similar in wildtype and knockout mice but there was a notable reduction in calbindin-immunoreactive cells in midline/intralaminar/posterior dorsal thalamic nuclei of male Fmr1 knockout mice. We counted the number of calbindin-immunoreactive cells in 18 distinct nuclei of the dorsal thalamus. Knockout male mice showed a significant reduction in calbindin-immunoreactive cells (range: 36-67% lower), whereas female knockout mice did not show significant differences (in any dorsal thalamic nucleus) when compared with their wildtype littermates. No variation in the calretinin expression pattern was observed throughout the dorsal thalamus. The number of calretinin-immunoreactive cells was similar for all experimental groups as well. Parvalbumin immunoreactivity was restricted to fibers and neuropil in the analyzed dorsal thalamic nuclei, and presented no differences between genotypes. Midline/intralaminar/posterior dorsal thalamic nuclei are involved in forebrain circuits related to memory, nociception, social fear, and auditory sensory integration; therefore, we suggest that downregulation of calbindin protein expression in the dorsal thalamus of male knockout mice should be taken into account when analyzing behavioral studies in the mouse model of FXS.
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26. Grecucci A, Brambilla P, Siugzdaite R, Londero D, Fabbro F, Rumiati RI. {{Emotional resonance deficits in autistic children}}. {J Autism Dev Disord};2013 (Mar);43(3):616-628.
According to some theories imitation, defined as an action resonance mechanism, is deficient in autism. In contrast, other theories (e.g., the « top down control of imitation » hypothesis) state that the problem is not in imitation per se but in the way social cues modulate imitative responses. In this study, 15 high-functioning children with autism and 15 matched controls were tested for their ability to imitate finger movements preceded by neutral and emotional facial expressions (primes) in a stimulus-response compatibility task. Hand movements performed after neutral expressions did not differ between the two groups (i.e., they both showed a normal imitative tendency). However, hand movements performed after emotional expressions significantly differed between the two populations, with controls, but not autistic spectrum disorder (ASD), showing enhanced imitation in the emotional condition. This study supports the view that, in ASD, imitation abilities are spared but they are not modulated according to the emotional and social context.
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27. Grether JK, Qian Y, Croughan MS, Wu YW, Schembri M, Camarano L, Croen LA. {{Is infertility associated with childhood autism?}}. {J Autism Dev Disord};2013 (Mar);43(3):663-672.
Concerns persist about a possible link between infertility and risk of autism spectrum disorders (ASD). Interpretation of existing studies is limited by racial/ethnic homogeneity of study populations and other factors. Using a case-control design, we evaluated infertility history and treatment documented in medical records of members of Kaiser Permanente Northern California. Among singletons (349 cases, 1,847 controls), we found no evidence to support an increase in risk of ASD associated with infertility. Among multiple births (21 cases, 54 controls), we found an increased risk associated with infertility history and with infertility evaluations and treatment around the time of index pregnancy conception; however, small sample size and lack of detailed data on treatments preclude firm interpretation of results for multiple births.
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28. Handrigan GR, Chitayat D, Lionel AC, Pinsk M, Vaags AK, Marshall CR, Dyack S, Escobar LF, Fernandez BA, Stegman JC, Rosenfeld JA, Shaffer LG, Goodenberger M, Hodge JC, Cain JE, Babul-Hirji R, Stavropoulos DJ, Yiu V, Scherer SW, Rosenblum ND. {{Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation}}. {J Med Genet};2013 (Mar);50(3):163-173.
BACKGROUND: The contribution of copy-number variation (CNV) to disease has been highlighted with the widespread adoption of array-based comparative genomic hybridisation (aCGH) and microarray technology. Contiguous gene deletions involving ANKRD11 in 16q24.3 are associated with autism spectrum disorder (ASD) and intellectual disability (ID), while 16q24.1 deletions affecting FOXF1 are associated with congenital renal malformations, alveolar capillary dysplasia, and various other abnormalities. The disease associations of deletions in the intervening region, 16q24.2, have only been defined to a limited extent. AIM: To determine whether deletions affecting 16q24.2 are correlated with congenital anomalies. METHODS: 35 individuals, each having a deletion in 16q24.2, were characterised clinically and by aCGH and/or SNP-genotyping microarray. RESULTS: Several of the 35 16q24.2 deletions identified here closely abut or overlap the coding regions of FOXF1 and ANKRD11, two genes that have been previously associated with the disease. 25 patients were reported to have ASD/ID, and three were found to have bilateral hydronephrosis. 14 of the deletions associated with ASD/ID overlap the coding regions of FBXO31 and MAP1LC3B. These same genes and two others, C16orf95 and ZCCHC14, are also included in the area of minimal overlap of the three deletions associated with hydronephrosis. CONCLUSIONS: Our data highlight 16q24.2 as a region of interest for ASD, ID and congenital renal malformations. These conditions are associated, albeit without complete penetrance, with deletions affecting C16orf95, ZCCHC14, MAP1LC3B and FBXO31. The function of each gene in development and disease warrants further investigation.
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29. Hayes SA, Watson SL. {{The Impact of Parenting Stress: A Meta-analysis of Studies Comparing the Experience of Parenting Stress in Parents of Children With and Without Autism Spectrum Disorder}}. {J Autism Dev Disord};2013 (Mar);43(3):629-642.
Researchers commonly report that families of children with autism spectrum disorder (ASD) experience more parenting stress than families of typically developing (TD) children or those diagnosed with other disabilities [e.g., Down syndrome (DS), cerebral palsy, intellectual disability]. The authors reexamined the research using comparison groups to investigate parenting stress and conducted a meta-analysis to pool results across studies. The experience of stress in families of children with ASD versus families of TD children resulted in a large effect size. Comparisons between families of children of ASD and families with other disabilities also generated a large effect size however, this result should be interpreted with caution as it may be associated with the specific experience of parenting a child with DS.
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30. Heberling CA, Dhurjati PS, Sasser M. {{Hypothesis for a systems connectivity model of autism spectrum disorder pathogenesis: Links to gut bacteria, oxidative stress, and intestinal permeability}}. {Med Hypotheses};2013 (Mar);80(3):264-270.
Autism Spectrum Disorders are neurodevelopmental disorders with symptoms that include cognitive impairments, stereotyped behaviors, and impairments in social skills. The dramatic increase in incidence of autism in recent years has created an increased need to find effective treatments. This paper proposes a hypothesis for a systems model of the connections between Autism Spectrum Disorder pathogenesis routes observed in recent studies. A combination treatment option is proposed to combat multiple pathogenesis mechanisms at once. Autism has been cited as being linked to gastrointestinal symptoms and is thought to be caused by a combination of genetic predisposition and environmental factors. Neuroinflammation as a result of increased gastrointestinal permeability has been noted as being a likely cause of Autism Spectrum Disorders, with possible primary causes stemming from abnormal intestinal bacteria and/or sulfur metabolic deficiencies. Our pathogenesis model proposes a circular relationship: oxidative stress and sulfur metabolic deficiencies could cause changes in colonic bacterial composition; and environmental bacterial contaminants could lead to elevated oxidative stress in individuals. It would thus be a self-perpetuating process where treatment options with single targets would have short-lived effects. It is believed that bacterial toxins, oxidative stress and dietary allergens such as gluten could all lead to increased epithelial permeability. Therefore, we propose a combination treatment to combat intestinal permeability, abnormal bacteria and/or bacterial overgrowth, and sulfur metabolic deficiencies. It is our hope that the proposed model will inspire new studies in finding effective treatments for individuals with Autism Spectrum Disorders. We suggest possible future studies that may lend more credibility to the proposed model.
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31. Hirst SP. {{Victoria has a developmental disability}}. {J Gerontol Nurs};2013 (Mar);39(3):3-4.
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32. Hobson JA, Hobson RP, Malik S, Bargiota K, Calo S. {{The relation between social engagement and pretend play in autism}}. {Br J Dev Psychol};2013 (Mar);31(Pt 1):114-127.
The focus of this study is the nature and concomitants of pretend play among young children with autism. Age- and language-matched children with autism (n= 27), autism spectrum disorder (n= 14), and developmental disorders without autism (n= 16) were administered the Test of Pretend Play (ToPP; Lewis & Boucher, 1997), with an additional rating of ‘playful pretence’. As predicted, children with autism showed less playful pretend than participants with developmental disorders who did not have autism. Across the groups, playful pretence was correlated with individual differences in communication and social interaction, even when scores on the ToPP were taken into account. Limitations in creative, playful pretend among children with autism relate to their restricted interpersonal communication and engagement.
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33. Inagaki M, Hayashi T. {{An important message for parents of children with developmental disabilities who have encountered unprecedented disaster}}. {Brain Dev};2013 (Mar);35(3):193-194.
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34. Johnson NL, Giarelli E, Lewis C, Rice CE. {{Genomics and autism spectrum disorder}}. {J Nurs Scholarsh};2013 (Mar);45(1):69-78.
Purpose: To present the current state of the evidence regarding translation of genetics (the study of single genes) and genomics (the study of all genes and gene-gene or gene-environment interactions) into health care of children with autism spectrum disorder (ASD). Methods: This article presents an overview of ASD as an international health challenge, the emerging science related to broad diagnostic criteria, and the role of the nurse in research, education, and practice. Findings: Much progress is being made in the understanding of genetics and genomics of ASD. Environmental factors are thought to contribute to the risk of developing ASD by interacting with a number of genes in different ways, thus suggesting causal heterogeneity. The rising identified prevalence of ASD, the changing diagnostic criteria for ASD, and the complexity of the core and associated features have made it difficult to define the ASD phenotype (observable behaviors that result from gene-environment interaction). Because early identification improves opportunities for intervention, researchers are looking for a useful biomarker to detect ASD. This search is complicated by the likelihood that there are multiple causes for multiple expressions that are defined as the autism spectrum. Conclusions: To date, genetic and genomic research on ASD have underscored the complexity of the causes of ASD indicating that there are very complex genetic processes involved that are still not well understood. Clinical Relevance: Nurses will benefit from new knowledge related to early identification, diagnosis, and implications for the family to promote early intervention. Families who have a child with ASD will require nursing support for advocacy for optimal health outcomes.
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35. Jolley RP, O’Kelly R, Barlow CM, Jarrold C. {{Expressive drawing ability in children with autism}}. {Br J Dev Psychol};2013 (Mar);31(Pt 1):143-149.
The autistic impairments in emotional and social competence, imagination and generating ideas predict qualitative differences in expressive drawings by children with autism beyond that accounted by any general learning difficulties. In a sample of 60 5-19-year-olds, happy and sad drawings were requested from 15 participants with non-savant autism and compared with those drawn by three control groups matched on either degree of learning difficulty (MLD), mental age (MA) or chronological age (CA). All drawings were rated by two artists on a 7-point quality of expression scale. Contrary to our predictions, the drawings from the autistic group were rated similar to those of the MA and MLD groups. Analysis of the people and social content of the drawings revealed that although children with autism did not draw fewer people, they did draw more immature forms than mental age controls. Furthermore, there was tentative evidence that fewer social scenes were produced by the autism sample. We conclude that the overall merit of expressive drawing in autism is commensurate with their general learning difficulties, but the social/emotional impairment in autism affects their drawings of people and social scenes.
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36. Julu PO, Witt Engerstrom I, Hansen S, Apartopoulos F, Engerstrom B. {{Treating hypoxia in a feeble breather with Rett syndrome}}. {Brain Dev};2013 (Mar);35(3):270-273.
Rett syndrome (RS) is a unique X-linked dominant neurodevelopmental disorder affecting 1 in 10,000 females. Mutations in the MECP2 gene located on Xq28 have been identified. Many of the characteristic features evolve due to immaturity of the brain in RS. Cardiorespiratory function should be investigated early to characterise the clinical phenotype of the person with RS because each of the three cardiorespiratory phenotypes; apneustic, feeble and forceful breathers have unique and different management strategies. We report a case of a feeble breather showing a correlation between cortical function and tissue pO(2) and pCO(2). We conclude that subtle changes in the levels of blood gases significantly affect cortical function in RS.
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37. Jung S, Sainato DM. {{Teaching play skills to young children with autism}}. {J Intellect Dev Disabil};2013 (Mar);38(1):74-90.
Abstract Background Play is critical for the development of young children and is an important part of their daily routine. However, children with autism often exhibit deficits in play skills and engage in stereotypic behaviour. We reviewed studies to identify effective instructional strategies for teaching play skills to young children with autism. Method Empirical studies on teaching play skills to young children with autism published from 1990 to 2011 were located. These studies included single subject and group designs. Results Twenty-six studies were reviewed. The majority of studies on teaching play skills used combined interventions. Children with autism improved their play skills, with direct intervention embedding their interests during play. Improvements in play skills increased positive social interactions and decreased inappropriate behaviour as collateral effects. Conclusions Further research is needed to develop more effective play skill interventions that assess the functional use of play and are implemented in the natural environment.
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38. Kang-Yi CD, Grinker RR, Mandell DS. {{Korean culture and autism spectrum disorders}}. {J Autism Dev Disord};2013 (Mar);43(3):503-520.
This paper reviews the literature on early child development among Koreans, with a focus on autism spectrum disorders (ASD). The literature review of 951 abstracts in English, 101 abstracts in Korean and 27 full articles published from 1994 to 2011 was performed to understand the presentation of and response to ASD in Korean culture. Based on research to date on the identification, description, and treatment of ASD in Korean populations, we argue that at both conceptual and practical levels, early child development and interventions must be understood within cultural context. Culturally informed research on ASD is vital for increasing awareness of the importance of early intervention and the need for educational and psychological services in countries in which autism is stigmatized, misdiagnosed or undiagnosed.
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39. Kim KC, Kim P, Go HS, Choi CS, Park JH, Kim HJ, Jeon SJ, Dela Pena IC, Han SH, Cheong JH, Ryu JH, Shin CY. {{Male-specific alteration in excitatory post-synaptic development and social interaction in pre-natal valproic acid exposure model of autism spectrum disorder}}. {J Neurochem};2013 (Mar);124(6):832-843.
Autism spectrum disorder (ASD) is a pervasive developmental disorder characterized by three main behavioral symptoms including social deficits, impaired communication, and stereotyped and repetitive behaviors. ASD prevalence shows gender bias to male. Prenatal exposure to valproic acid (VPA), a drug used in epilepsy and bipolar disorder, induces autistic symptoms in both human and rodents. As we reported previously, prenatally VPA-exposed animals at E12 showed impairment in social behavior without any overt reproductive toxicity. Social interactions were not significantly different between male and female rats in control condition. However, VPA-exposed male offspring showed significantly impaired social interaction while female offspring showed only marginal deficits in social interaction. Similar male inclination was observed in hyperactivity behavior induced by VPA. In addition to the ASD-like behavioral phenotype, prenatally VPA-exposed rat offspring shows crooked tail phenotype, which was not different between male and female groups. Both male and female rat showed reduced GABAergic neuronal marker GAD and increased glutamatergic neuronal marker vGluT1 expression. Interestingly, despite of the similar increased expression of vGluT1, post-synaptic marker proteins such as PSD-95 and alpha-CAMKII expression was significantly elevated only in male offspring. Electron microscopy showed increased number of post-synapse in male but not in female at 4 weeks of age. These results might suggest that the altered glutamatergic neuronal differentiation leads to deranged post-synaptic maturation only in male offspring prenatally exposed to VPA. Consistent with the increased post-synaptic compartment, VPA-exposed male rats showed higher sensitivity to electric shock than VPA-exposed female rats. These results suggest that prenatally VPA-exposed rats show the male preponderance of ASD-like behaviors including defective social interaction similar to human autistic patients, which might be caused by ectopic increase in glutamatergic synapses in male rats.
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40. Korzeniewski SJ, Pinto-Martin JA, Whitaker AH, Feldman JF, Lorenz JM, Levy SE, Movsas TZ, Pappas A, Paneth N. {{Association between transient hypothyroxinaemia of prematurity and adult autism spectrum disorder in a low-birthweight cohort: an exploratory study}}. {Paediatr Perinat Epidemiol};2013 (Mar);27(2):182-187.
BACKGROUND: Transient hypothyroxinaemia of prematurity (THOP) is associated with increased risk of cerebral palsy and lower IQ in low-birthweight infants. This study explores whether THOP is also associated with increased risk of autism spectrum disorders (ASD). METHODS: This secondary analysis uses data from a birth cohort of newborns weighing 500 -2000 g (n = 1105) who were followed to age 21 years, when they were assessed for ASD in the second of a two-stage process. Of the 187 assessed at age 21, 14 had ASD. Neonatal thyroxine results were available for 12/14 and 165/173 participants diagnosed with and without ASD, respectively. THOP was defined as thyroxine z-score <-2.6. Unadjusted relative risks (RR) and confidence intervals (CI) were calculated. RESULTS: The mean neonatal thyroxine z-score in young adults diagnosed with ASD was 0.5 SD lower [95% CI -0.16, 1.06] than in those without ASD. Participants with THOP were at 2.5-fold greater risk of ASD (RR 2.5 [95% CI 0.7, 8.4]). While neither of these differences was statistically significant, in a secondary subgroup analysis of those whose mothers did not have hypertension during pregnancy, THOP significantly increased the RR for ASD (5.0 [95% CI 1.2, 20.5]). CONCLUSION: While the primary relation between THOP and ASD found here is not statistically significant, the magnitude of association and significant relationship observed in the subgroup whose mothers did not have hypertension during pregnancy suggest that it is worthy of further investigation.
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41. Kouijzer ME, van Schie HT, Gerrits BJ, Buitelaar JK, de Moor JM. {{Is EEG-biofeedback an Effective Treatment in Autism Spectrum Disorders? A Randomized Controlled Trial}}. {Appl Psychophysiol Biofeedback};2013 (Mar);38(1):17-28.
EEG-biofeedback has been reported to reduce symptoms of autism spectrum disorders (ASD) in several studies. However, these studies did not control for nonspecific effects of EEG-biofeedback and did not distinguish between participants who succeeded in influencing their own EEG activity and participants who did not. To overcome these methodological shortcomings, this study evaluated the effects of EEG-biofeedback in ASD in a randomized pretest-posttest control group design with blinded active comparator and six months follow-up. Thirty-eight participants were randomly allocated to the EEG-biofeedback, skin conductance (SC)-biofeedback or waiting list group. EEG- and SC-biofeedback sessions were similar and participants were blinded to the type of feedback they received. Assessments pre-treatment, post-treatment, and after 6 months included parent ratings of symptoms of ASD, executive function tasks, and 19-channel EEG recordings. Fifty-four percent of the participants significantly reduced delta and/or theta power during EEG-biofeedback sessions and were identified as EEG-regulators. In these EEG-regulators, no statistically significant reductions of symptoms of ASD were observed, but they showed significant improvement in cognitive flexibility as compared to participants who managed to regulate SC. EEG-biofeedback seems to be an applicable tool to regulate EEG activity and has specific effects on cognitive flexibility, but it did not result in significant reductions in symptoms of ASD. An important finding was that no nonspecific effects of EEG-biofeedback were demonstrated.
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42. Kuusikko-Gauffin S, Pollock-Wurman R, Mattila ML, Jussila K, Ebeling H, Pauls D, Moilanen I. {{Social anxiety in parents of high-functioning children with autism and asperger syndrome}}. {J Autism Dev Disord};2013 (Mar);43(3):521-529.
We evaluated social anxiety (SA) symptoms in parents of children with autism spectrum disorders (ASDs; N = 131) and community parents (N = 597) using the Social Phobia and Anxiety Inventory (SPAI). SA was significantly more common in ASD than control mothers (15.6 vs. 6.7 %) and more equal between the ASD and control fathers (3.3 vs. 4.8 %). The ASD mothers scored significantly higher than control mothers on all SPAI scales. ASD fathers scored significantly higher than control fathers on the somatic, cognitive, avoidance and agoraphobic symptoms of SA. It is of clinical import to support ASD parents’ well-being as their psychiatric features may contribute greatly to their children’s emotional development and the well-being of the whole family.
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43. Langdon PE, Murphy GH, Clare IC, Palmer EJ, Rees J. {{An Evaluation of the EQUIP Treatment Programme with Men who have Intellectual or Other Developmental Disabilities}}. {J Appl Res Intellect Disabil};2013 (Mar);26(2):167-180.
BACKGROUND: The Equipping Youth to Help One Another Programme (EQUIP) was designed for young offenders to address a developmental delay in moral reasoning, distorted cognitions and social skills. METHODS: The present authors undertook a single case series study and piloted an adapted version of the EQUIP programme with three men with intellectual disabilities and four men with a diagnosis of Asperger Syndrome, all of whom were detained in a medium-secure forensic unit for people with intellectual disabilities. Treatment was delivered over a 12-week period, and participants took part in four-one-hour sessions per week. RESULTS: The results suggested that treatment was successful at increasing moral reasoning ability, reducing distorted cognitions and improving ability to choose effective solutions to problems. However, treatment did not have a significant effect upon anger. CONCLUSIONS: The EQUIP programme is a promising treatment, but further research is needed to investigate its effectiveness with men with intellectual or other developmental disabilities.
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44. Lawson W. {{Sensory connection, interest/attention and gamma synchrony in autism or autism, brain connections and preoccupation}}. {Med Hypotheses};2013 (Mar);80(3):284-288.
Does motivational interest increase gamma synchrony across neuronal networking to enable computation of related sensory inputs that might lead to greater social understanding in autism spectrum conditions (ASC)? Meaning, is it possible/likely that in autism because individuals process one aspect of sensory input at any one time (therefore missing the wider picture in general) when they are motivated/interested or attending to particular stimuli their attention window is widened due to increased gamma synchrony and they might be enabled to connect in ways that do not occur when they are not motivated? This is my current research question. If gamma synchrony is helping with the binding of information from collective sensory inputs, in ASC, when and only if the individual is motivated, then this has huge potential for how learning might be encouraged for individuals with an ASC.
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45. Lehti V, Brown AS, Gissler M, Rihko M, Suominen A, Sourander A. {{Autism spectrum disorders in IVF children: a national case-control study in Finland}}. {Hum Reprod};2013 (Mar);28(3):812-818.
STUDY QUESTION: Does IVF increase the risk of autism spectrum disorders (ASDs)? SUMMARY ANSWER: No association between IVF and ASDs or any of its subtypes was found in this sample. WHAT IS KNOWN ALREADY: Certain prenatal factors may increase the risk of ASDs. Studies on the association between IVF and ASDs have shown inconsistent results. IVF is known to increase the risk of perinatal problems but many of them are related to multiple pregnancies. STUDY DESIGN, SIZE, DURATION: This case-control study included 4164 autistic cases and 16 582 matched controls born in Finland in 1991-2005. The cases were diagnosed with ASDs by the year 2007. The maximum age at diagnosis was 16 years. PARTICIPANTS/MATERIALS, SETTING, METHODS: Four controls were matched to each case. For singletons the matching criteria were date of birth, place of birth, sex and residency in Finland. For twins the birth order within a twin pair was included as well. In the whole sample, there were 63 cases (1.51%) and 229 controls (1.38%) born after IVF. MAIN RESULTS AND THE ROLE OF CHANCE: No significant association was found between IVF and ASDs (adjusted odds ratio (OR): 0.9, 95% confidence interval (CI): 0.7-1.3) or its subtypes childhood autism (OR: 0.8, 95% CI: 0.4-1.5), Asperger’s syndrome (OR: 0.9, 95% CI: 0.5-1.6) or other pervasive developmental disorder (OR: 1.0, 95% CI: 0.6-1.6). When only singletons were included, there was an association between IVF and Asperger’s syndrome in an unadjusted analysis (OR: 2.0, 95% CI: 1.1-3.5) but this was not significant when adjusted for mother’s socioeconomic status or parity. When the analyses were conducted separately for boys and girls, there was a significant association between IVF and Asperger’s syndrome for boys in an unadjusted analysis (OR: 2.1, 95% CI: 1.2-3.7) but this was not significant in the final adjusted model. LIMITATIONS, REASONS FOR CAUTION: Information both on IVF and on ASDs was based on registers and it is possible that there is some misclassification. No information on different subtypes of IVF or other assisted reproduction techniques was available. Statistical power may have been insufficient. WIDER IMPLICATIONS OF THE FINDINGS: This study showed no increased risk of ASDs in children born after IVF but studies with larger sample sizes and information on different subtypes of IVF are needed to confirm the finding. STUDY FUNDING/COMPETING INTEREST(S): The study was supported by Autism Speaks, NIMH 1K02-MH65422 and NIEHS 1R01ES019004. There are no competing interests.
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46. Leung C, Fan A, Sanders MR. {{The effectiveness of a Group Triple P with Chinese parents who have a child with developmental disabilities: A randomized controlled trial}}. {Res Dev Disabil};2013 (Mar);34(3):976-984.
The study examined the effectiveness of Group Triple P, a Level 4 variant of the Triple P multilevel system of parenting support, with Chinese parents who had a preschool aged child with a developmental disability, using randomized controlled trial design. Participants (Intervention group: 42; Waitlist Control group: 39) completed measures on child behaviour, parental stress, dysfunctional discipline styles and parental conflict before and after program completion by the Intervention group. Intervention group participants also completed these same measures six months after program completion. Compared to the Waitlist Control group, parents receiving Group Triple P reported significantly lower levels of child behaviour problems, parental stress, dysfunctional discipline style and parental conflict scores. The Intervention group participants maintained their gains six months after program completion. The results provided promising evidence for the Level 4 Group Triple P as an effective intervention program for Chinese parents who have preschool aged children with developmental disabilities.
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47. Leventhal-Belfer L. {{Potential Ramifications of DSM-5 Classification of Autistic Disorders: Comments from a Clinician’s Perspective}}. {J Autism Dev Disord};2013 (Mar);43(3):749-750.
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48. Lu YY, Wei IH, Huang CC. {{Dental health – a challenging problem for a patient with autism spectrum disorder}}. {Gen Hosp Psychiatry};2013 (Mar);35(2):214 e211-213.
Patients with autism spectrum disorders (ASDs) are at an increased risk for many diseases. However, little has been published about the dental health of patients with ASDs. Here, we describe the clinical presentations in a 28-year-old woman with autistic disorder. The most striking finding was the severe dental problems which had been neglected for several years. Our patient exhibited a combination of several factors that may have increased the risk of development of severe dental problem. The early recognition is still challenging to managing this unusual condition in patients with ASDs. From the experience of caring for this patient, a team of parents or caregivers, psychiatrist and dentist should be involved in maintaining oral health care of such patients with early intervention and long-term follow-up. Evidence-based behavioral management approaches for patients with ASD need to be developed to improve compliance with oral care procedures.
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49. Martos-Perez J, Freire-Prudencio S, Gonzalez-Navarro A, Llorente-Comi M, Ayuda-Pascual R. {{[Development and follow-up of autism spectrum disorders.]}}. {Rev Neurol};2013 (Feb 22);56(S01):S61-S66.
INTRODUCTION. Autism spectrum disorders are neurodevelopmental disorders with qualitative impairment in functioning domains and areas of human characteristically. It is important to know how is the outcome in the adolescent and adult age of these people to provide the services and support needed. DEVELOPMENT. We review the most important follow-up studies have been conducted in autism spectrum disorders, realizes the kind of designs that have been carried out and the results obtained in different areas of development and independent functioning. CONCLUSIONS. Improvements in outcome but these are generally poor in the population. A small proportion close or around 25% are experiencing better outcome. These cases generally correspond to what is known as high-functioning autism or Asperger syndrome.
50. McCabe A, Hillier A, Shapiro C. {{Brief report: structure of personal narratives of adults with autism spectrum disorder}}. {J Autism Dev Disord};2013 (Mar);43(3):733-738.
Young adults with High Functioning Autism and a matched comparison group told personal narratives using a standard conversational procedure. Longest narratives were determined (i.e., number of propositions included) and scored using an analysis that looks at the organization of a narrative around a highpoint. The group with Autism Spectrum Disorder produced narratives with significantly poorer HP macrostructure and introduced proportionately fewer propositions with conjunctions. Such impairments in the ability to make sense of personal experiences both reflect and contribute to difficulty in social-emotional functioning.
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51. McGuinness TM, Johnson K. {{DSM-5 Changes in the Diagnosis of Autism Spectrum Disorder}}. {J Psychosoc Nurs Ment Health Serv};2013 (Feb 28):1-3.
The long-awaited fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) is about to be published. The changes in the criteria for diagnosis of autism spectrum disorder are of particular interest to psychiatric nurses. This article describes the changes and the new criteria. Implications for patients and nurses, both positive and negative, are also discussed.
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52. Messinger D, Young GS, Ozonoff S, Dobkins K, Carter A, Zwaigenbaum L, Landa RJ, Charman T, Stone WL, Constantino JN, Hutman T, Carver LJ, Bryson S, Iverson JM, Strauss MS, Rogers SJ, Sigman M. {{Beyond autism: a baby siblings research consortium study of high-risk children at three years of age}}. {J Am Acad Child Adolesc Psychiatry};2013 (Mar);52(3):300-308 e301.
OBJECTIVE: First-degree relatives of persons with an autism spectrum disorder (ASD) are at increased risk for ASD-related characteristics. As little is known about the early expression of these characteristics, this study characterizes the non-ASD outcomes of 3-year-old high-risk (HR) siblings of children with ASD. METHOD: Two groups of children without ASD participated: 507 HR siblings and 324 low-risk (LR) control subjects (no known relatives with ASD). Children were enrolled at a mean age of 8 months, and outcomes were assessed at 3 years. Outcome measures were Autism Diagnostic Observation Schedule (ADOS) calibrated severity scores, and Mullen Verbal and Non-Verbal Developmental Quotients (DQ). RESULTS: At 3 years, HR siblings without an ASD outcome exhibited higher mean ADOS severity scores and lower verbal and non-verbal DQs than LR controls. HR siblings were over-represented (21% HR versus 7% LR) in latent classes characterized by elevated ADOS severity and/or low to low-average DQs. The remaining HR siblings without ASD outcomes (79%) belonged to classes in which they were not differentially represented with respect to LR siblings. CONCLUSIONS: Having removed a previously identified 18.7% of HR siblings with ASD outcomes from all analyses, HR siblings nevertheless exhibited higher mean levels of ASD severity and lower levels of developmental functioning than LR children. However, the latent class membership of four-fifths of the HR siblings was not significantly different from that of LR control subjects. One-fifth of HR siblings belonged to classes characterized by higher ASD severity and/or lower levels of developmental functioning. This empirically derived characterization of an early-emerging pattern of difficulties in a minority of 3-year-old HR siblings suggests the importance of developmental surveillance and early intervention for these children.
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53. Nagamani SC, Erez A, Ben-Zeev B, Frydman M, Winter S, Zeller R, El-Khechen D, Escobar L, Stankiewicz P, Patel A, Wai Cheung S. {{Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders}}. {Eur J Hum Genet};2013 (Mar);21(3):343-346.
Small genomic rearrangements and copy-number variations (CNVs) involving a single gene have been associated recently with many neurocognitive phenotypes, including intellectual disability (ID), behavioral abnormalities, and autistic spectrum disorders (ASDs). Such small CNVs in the Autism susceptibility candidate 2 (AUTS2) gene have been shown to be associated with seizures, ID, and ASDs. We report four patients with small CNVs ranging in size between 133-319 kb that disrupt AUTS2. Two patients have duplications involving single exons, whereas two have deletions that removed multiple exons. All patients had developmental delay, whereas two patients had a diagnosis of ASDs. The CNVs were detected by an exon-targeted array CGH with dense oligonucleotide coverage in exons of genes known or hypothesized to be causative of multiple human phenotypes. Our report further shows that disruption of AUTS2 results in a variety of neurobehavioral phenotypes. More importantly, it demonstrates the utility of targeted exon array as a highly sensitive clinical diagnostic tool for the detection of small genomic rearrangements in the clinically relevant regions of the human genome.
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54. Norwood KW, Jr., Slayton RL. {{Oral health care for children with developmental disabilities}}. {Pediatrics};2013 (Mar);131(3):614-619.
Children with developmental disabilities often have unmet complex health care needs as well as significant physical and cognitive limitations. Children with more severe conditions and from low-income families are particularly at risk with high dental needs and poor access to care. In addition, children with developmental disabilities are living longer, requiring continued oral health care. This clinical report describes the effect that poor oral health has on children with developmental disabilities as well as the importance of partnerships between the pediatric medical and dental homes. Basic knowledge of the oral health risk factors affecting children with developmental disabilities is provided. Pediatricians may use the report to guide their incorporation of oral health assessments and education into their well-child examinations for children with developmental disabilities. This report has medical, legal, educational, and operational implications for practicing pediatricians.
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55. Nuytens K, Gantois I, Stijnen P, Iscru E, Laeremans A, Serneels L, Van Eylen L, Liebhaber SA, Devriendt K, Balschun D, Arckens L, Creemers JW, D’Hooge R. {{Haploinsufficiency of the autism candidate gene Neurobeachin induces autism-like behaviors and affects cellular and molecular processes of synaptic plasticity in mice}}. {Neurobiol Dis};2013 (Mar);51:144-151.
Neurobeachin (NBEA), a brain-enriched multidomain scaffolding protein involved in neurotransmitter release and synaptic functioning, has been identified as a candidate gene for autism spectrum disorder (ASD) in four unrelated patients haploinsufficient for NBEA. The aim of this study was to map the behavioral phenotype of Nbea(+/-) mice in order to understand its contribution to the pathogenesis of ASD. ASD-like behavioral variables of Nbea(+/-) mice were related to basal neuronal activity in different brain regions by in situ hybridizations and extracellular field recordings of synaptic plasticity in hippocampal cornu ammonis 1 (CA1) region. Levels of BDNF and phosphorylated cAMP response element-binding protein (CREB) were measured in an attempt to investigate putatively underlying changes in these neuromolecules. Nbea(+/-) mice exhibit several ASD-like features, including changes in self-grooming behavior, social behaviors, conditioned fear responses, and spatial learning and memory, which coincided with enhanced long-term potentiation (LTP) in their CA1 region. The observed alterations in learning and memory and hippocampal LTP are concomitant with decreased expression of the immediate early gene zif268 in dorsomedial striatum and hippocampal CA1 region, increased CREB phosphorylation, and increased hippocampal BDNF expression. These findings indicate that Nbea haploinsufficiency leads to various molecular and cellular changes that affect neuroplasticity and behavioral functions in mice, and could thus underlie the ASD symptomatology in NBEA deficient humans.
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56. Palau-Baduell M, Valls-Santasusana A, Salvado-Salvado B, Clofent-Torrento M. {{[Interest of electroencephalogram in autism.]}}. {Rev Neurol};2013 (Feb 22);56(S01):S35-S43.
Autism spectrum disorders (ASD) have been associated with physiopathology in cerebral organization and function. Electroencephalography is a noninvasive technique that provides information about brain electrocortical activity. Electroencephalographic (EEG) studies using power spectra have documented differences associated with ASD, particularly in frontal areas that have been functionally linked to cognitive functions that are disrupted in individuals with ASD. Furthermore, EEG studies confirm coherence changes in individuals with ASD. Many studies have also reported high rates of interictal epileptiform EEG abnormalities in children with ASD with or without history of seizures. Several polysomnography studies have confirmed the presence of disrupted sleep architecture in children with ASD. Polysomnographic abnormalities include reduction of REM sleep, longer sleep latency, increased arousals, lower sleep efficiency, increased stage 1 sleep and decreased slow wave sleep as well as decreased density of spindle activity. The objective of this review is to present research data on the EEG findings in patients with ASD, with emphasis on their power EEG, coherence EEG, epileptiform EEG abnormalities and sleep disorders.
57. Palumbo O, D’Agruma L, Minenna AF, Palumbo P, Stallone R, Palladino T, Zelante L, Carella M. {{3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination}}. {Gene};2013 (Mar 1);516(1):107-113.
Interstitial deletion of chromosome region 3p14.1, including FOXP1 gene, is relatively rare and, until recently, there were no strong evidences to support the hypothesis that this microdeletion could play a role in the etiology of genomic disorders. Here, we report on an adult patient with a recognizable phenotype of autism, severe speech delay, deficit of motor coordination and typical dysmorphic features. Analysis of a dense whole genome single-nucleotide polymorphism (SNP) array showed a 1Mb interstitial deletion of chromosome region 3p14.1 including the entire coding region of FOXP1 (MIM 605515) gene. In order to study the parental origin of the deletion, we analyzed selected SNPs in the deleted area in the proband and his parents showing Mendelian incompatibilities suggesting a de novo deletion on the chromosome of paternal origin. Despite the frequency of this genomic alteration has not been estimated, our patient confirm the hypothesis that microdeletion of 3p14.1 seems to be a rare cause of cognitive disorders and that haploinsufficiency of FOXP1 may play a role in neurological and language deficits in patients carrying a 3p14.1 deletion. Finally, our patient is also important because useful to further delineate the clinical spectrum secondary to the 3p14.1 microdeletions.
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58. Patriquin MA, Scarpa A, Friedman BH, Porges SW. {{Respiratory sinus arrhythmia: a marker for positive social functioning and receptive language skills in children with autism spectrum disorders}}. {Dev Psychobiol};2013 (Mar);55(2):101-112.
The current study builds on the emerging autism spectrum disorder (ASD) literature that associates autonomic nervous system activity with social function, and examines the link between respiratory sinus arrhythmia (RSA) and both social behavior and cognitive function. The RSA response pattern was assessed in 23 4- to 7-year-old children diagnosed with an ASD. Higher baseline RSA amplitudes were associated with better social behavior (i.e., more conventional gestures, more instances of joint attention) and receptive language abilities. Similar to reports of typically developing children, ASD children with higher RSA amplitude at baseline showed greater RSA and HP reactivity during an attention-demanding task. These results highlight the importance of studying RSA as a marker of positive function in children with ASD.
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59. Paula-Perez I. {{[Co-occurrence of anxiety and autism. The social error and allostatic load hypotheses.]}}. {Rev Neurol};2013 (Feb 22);56(S01):S45-S59.
INTRODUCTION. The concept of comorbidity in neurodevelopmental disorders like autism is sometimes ambiguous. The co-occurrence of anxiety and autism is clinically significant, yet it is not always easy to determine whether it is a ‘real’ comorbidity, where the two comorbid conditions are phenotypically and aetiologically identical to what that anxiety would mean in persons with a neurotypical development, whether it is an anxiety that has been phenotypically modified by the pathological processes of the autism spectrum disorders, thus resulting in a specific variant of these latter, or whether we are dealing with a false comorbidity resulting from rather inaccurate differential diagnoses. DEVELOPMENT. The article puts forward two hypotheses to explain this co-occurrence, which provide each other with feedback and are little more than our reflections on the scientific evidence we have available today, but expressed aloud. The first is the ‘social error’ hypothesis, which considers that the maladjustments in the social behaviour of persons with autism (which arises from alterations affecting the processes involved in social cognition) help to aggravate anxiety in autism. The second hypothesis, referring to allostatic load, holds that anxiety is a response to chronic stress, wear or exhaustion that is produced by the hyperactivation of certain structures in the limbic system. CONCLUSIONS. The prototypical manifestations of anxiety present in the person with autism are not always related with the same biopsychosocial variables as those observed in persons without autism. Evidence points to hyper-reactive flee-or-fight responses (hypervigilance) when the person finds him or herself outside their comfort zone, and supports the hypotheses of ‘social error’ and of decompensation of the allostatic mechanism that makes it possible to cope with stress.
60. Peters JM, Taquet M, Vega C, Jeste SS, Sanchez Fernandez I, Tan J, Nelson CA, 3rd, Sahin M, Warfield SK. {{Brain functional networks in syndromic and non-syndromic autism: a graph theoretical study of EEG connectivity}}. {BMC Med};2013 (Feb 27);11(1):54.
BACKGROUND: Graph theory has been recently introduced to characterize complex brain networks, making it highly suitable to investigate altered connectivity in neurologic disorders. A current model proposes autism spectrum disorder (ASD) as a developmental disconnection syndrome, supported by converging evidence in both non-syndromic and syndromic ASD. However, the effects of abnormal connectivity on network properties have not been well studied, particularly in syndromic ASD. To close this gap, brain functional networks of electroencephalographic (EEG) connectivity were studied through graph measures in patients with Tuberous Sclerosis Complex (TSC), a disorder with a high prevalence of ASD, as well as in patients with non-syndromic ASD. METHODS: EEG data were collected from TSC patients with ASD (n = 14) and without ASD (n = 29), from patients with non-syndromic ASD (n = 16), and from controls (n = 46). First, EEG connectivity was characterized by the mean coherence, the ratio of inter- over intra-hemispheric coherence and the ratio of long- over short-range coherence. Next, graph measures of the functional networks were computed and a resilience analysis was conducted. To distinguish effects related to ASD from those related to TSC, a two-way analysis of covariance (ANCOVA) was applied, using age as a covariate. RESULTS: Analysis of network properties revealed differences specific to TSC and ASD, and these differences were very consistent across subgroups. In TSC, both with and without a concurrent diagnosis of ASD, mean coherence, global efficiency, and clustering coefficient were decreased and the average path length was increased. These findings indicate an altered network topology. In ASD, both with and without a concurrent diagnosis of TSC, decreased long- over short-range coherence and markedly increased network resilience were found. CONCLUSIONS: The altered network topology in TSC represents a functional correlate of structural abnormalities and may play a role in the pathogenesis of neurological deficits. The increased resilience in ASD may reflect an excessively degenerate network with local overconnection and decreased functional specialization. This joint study of TSC and ASD networks provides a unique window to common neurobiological mechanisms in autism. Please see related commentary article here http://www.biomedcentral.com/1741-7015/11/55.
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61. Potvin MC, Snider L, Prelock P, Kehayia E, Wood-Dauphinee S. {{Children’s Assessment of Participation and Enjoyment/Preference for Activities of Children: Psychometric Properties in a Population With High-Functioning Autism}}. {Am J Occup Ther};2013 (Mar);67(2):209-217.
The psychometric properties of assessments must be established for specific populations. The psychometric properties of the Children’s Assessment of Participation and Enjoyment/Preference for Activities of Children have been studied only in a sample of children with physical disability. We conducted a study to determine the appropriateness of drawing inferences from this assessment for children with high-functioning autism (HFA). The content validity and test-retest reliability (r > .7) were both found to be adequate for this population. Parents’ agreement with most of their children’s self-ratings on this assessment provided an estimate of interrater reliability. We also ascertained the feasibility of gathering recreational participation information from children with HFA and found that adaptations to facilitate the self-completion of the tool should be made available. The study findings support the use of this tool to assess recreational participation among children with HFA.
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62. Ramaekers VT, Quadros EV, Sequeira JM. {{Role of folate receptor autoantibodies in infantile autism}}. {Mol Psychiatry};2013 (Mar);18(3):270-271.
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63. Reith RM, McKenna J, Wu H, Hashmi SS, Cho SH, Dash PK, Gambello MJ. {{Loss of Tsc2 in Purkinje cells is associated with autistic-like behavior in a mouse model of tuberous sclerosis complex}}. {Neurobiol Dis};2013 (Mar);51:93-103.
Tuberous sclerosis complex (TSC) is a dominant tumor suppressor disorder caused by mutations in either TSC1 or TSC2. TSC causes substantial neuropathology, often leading to autism spectrum disorders (ASDs) in up to 60% of patients. The anatomic and neurophysiologic links between these two disorders are not well understood. We have generated and characterized a novel TSC mouse model with Purkinje cell specific Tsc2 loss. These Tsc2f/-;Cre mice exhibit progressive Purkinje cell degeneration. Since loss of Purkinje cells is a well reported postmortem finding in patients with ASD, we conducted a series of behavior tests to asses if Tsc2f/-;Cre mice displayed autistic-like deficits. Tsc2f/-;Cre mice demonstrated increased repetitive behavior as assessed with marble burying activity. Using the three chambered apparatus to asses social behavior, we found that Tsc2f/-;Cre mice showed behavioral deficits, exhibiting no preference between a stranger mouse and an inanimate object, or between a novel and a familiar mouse. We also detected social deficits in Tsc2f/f;Cre mice, suggesting that Purkinje cell pathology is sufficient to induce ASD-like behavior. Importantly, social behavior deficits were prevented with rapamycin treatment. Altogether, these results demonstrate that loss of Tsc2 in Purkinje cells in a Tsc2-haploinsufficient background leads to autistic-like behavioral deficits. These studies provide compelling evidence that Purkinje cell loss and/or dysfunction may be an important link between TSC and ASD as well as a general anatomic phenomenon that contributes to the ASD phenotype.
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64. Ren CM, Liang Y, Wei F, Zhang YN, Zhong SQ, Gu H, Dong XS, Huang YY, Ke H, Son XM, Tang D, Chen Z. {{Balanced translocation t(3;18)(p13;q22.3) and points mutation in the ZNF407 gene detected in patients with both moderate non-syndromic intellectual disability and autism}}. {Biochim Biophys Acta};2013 (Mar);1832(3):431-438.
Intellectual disability (ID) is a common disease. While the etiology remains incompletely understood, genetic defects are a major contributor, which include mutations in genes encoding zinc finger proteins. These proteins modulate gene expression via binding to DNA. Consistent with this knowledge, we report here the identification of mutations in the ZNF407 gene in ID/autistic patients. In our study of an ID patient with autism, a reciprocal translocation 46,XY,t(3;18)(p13;q22.3) was detected. By using FISH and long-range PCR approaches, we have precisely mapped the breakpoints associated with this translocation in a gene-free region in chromosome 3 and in the third intron of the ZNF407 gene in chromosome18. The latter reduces ZNF407 expression. Consistent with this observation, in our subsequent investigation of 105 ID/autism patients with similar clinical presentations, two missense mutations Y460C and P1195A were identified. These mutations cause non-conservative amino acid substitutions in the linker regions between individual finger structures. In line with the linker regions being critical for the integrity of zinc finger motifs, both mutations may result in loss of ZNF407 function. Taken together, we demonstrate that mutations in the ZNF407 gene contribute to the pathogenesis of a group of ID patients with autism.
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65. Robertson RE, Wehby JH, King SM. {{Increased parent reinforcement of spontaneous requests in children with autism spectrum disorder: Effects on problem behavior}}. {Res Dev Disabil};2013 (Mar);34(3):1069-1082.
Previous studies of response classes in individuals with developmental disabilities (DD) and problem behavior have shown that mild problem behavior, precursor behavior, and mands or requests can occur as functionally equivalent to severe problem behavior in some individuals. Furthermore, participants in some studies chose to use functionally equivalent alternatives over severe problem behavior to produce the maintaining reinforcer. The present study added to this literature by having parents reinforce spontaneous requests functionally equivalent to problem behavior in their children with autism at home. First, parent-implemented functional analyses identified conditions associated with increased problem behavior and requests in two children with autism. Then, parents provided the maintaining reinforcer contingent on problem behavior alone or both problem behavior and requests in a withdrawal design. The treatment analysis indicated that the same reinforcer maintained child requests and problem behavior. In addition, when parents reinforced both requests and problem behavior, child participants demonstrated a preference for requests, thereby decreasing problem behavior. Implications of this relation for function-based treatment of problem behavior in children with autism are discussed.
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66. Ruggieri VL. {{[Empathy, social cognition and autism spectrum disorders.]}}. {Rev Neurol};2013 (Feb 22);56(S01):S13-S21.
From their earliest reports, Kanner and Asperger included the hierarchy of difficulties in socialisation as one of the key axes in persons affected with autism spectrum disorders (ASD), associated to development delay or language disorders and restricted interests. This deficiency in social cognition has been related with a deficit in empathy. The theory of deficit in empathising and hypersystematisation provides a coherent, comprehensible explanation with which to partially understand the genesis of these disorders. Empathy is an essential component for emotional experiencing and social interaction, and denotes an affective response to mental states that are either perceived directly or imagined or are feelings inferred by another person. It enables us to understand, feel and respond appropriately to social stimuli, thereby giving rise to an adequate socialisation. Empathy has been considered a synonym of emotional contagion, mimicry, sympathy, compassion and empathic interest. Although these are concepts that are related and necessary for the development of adequate social cognition, they are not the same; nonetheless, they are all essential for the development of empathy or its consequences. Empathy allows individuals to ‘feel with’, whereas sympathy, compassion and empathic interest are related with ‘feeling for’ or feeling what is appropriate. Studies conducted in persons with ASD have shown them to have a low empathy quotient. In this work, different aspects of empathy, its components, its neurobiological foundations, the manifestations related with its deficit and its relation with the development of ASDs are all analysed.
67. Russell-Smith SN, Bayliss DM, Maybery MT, Tomkinson RL. {{Are the autism and positive schizotypy spectra diametrically opposed in empathizing and systemizing?}}. {J Autism Dev Disord};2013 (Mar);43(3):695-706.
Crespi and Badcock’s (Behaviour Brain Sci 31: 241-261, 2008) novel theory, which presents autism and positive schizophrenia as diametrical opposites on a cognitive continuum, has received mixed support in the literature to date. The current study aimed to further assess the validity of this theory by investigating predictions in relation to empathizing and systemizing. Specifically, it is predicted by Crespi and Badcock that while mild autistic traits should be associated with a cognitive profile of superior mechanistic cognition (which overlaps with systemizing) but reduced mentalistic cognition (which overlaps with empathizing), positive schizotypy traits should be associated with the opposite profile of superior mentalistic but reduced mechanistic cognition. These predictions were tested in a student sample using a battery of self-report and behavioural measures. The pattern of results obtained provides no support for Crespi and Badcock’s theory.
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68. Scahill L, Hallett V, Aman MG, McDougle CJ, Eugene Arnold L, McCracken JT, Tierney E, Deng Y, Dziura J, Vitiello B. {{Brief Report: Social Disability in Autism Spectrum Disorder: Results from Research Units on Pediatric Psychopharmacology (RUPP) Autism Network Trials}}. {J Autism Dev Disord};2013 (Mar);43(3):739-746.
There is growing interest in measuring social disability as a core element of autism spectrum disorders in medication trials. We conducted a secondary analysis on the Aberrant Behavior Checklist Social Withdrawal subscale using data from two federally-funded, multi-site, randomized trials with risperidone. Study 1 included 52 subjects assigned to placebo and 49 subjects to risperidone under double-blind conditions. Study 2 included 49 subjects assigned to risperidone only and 75 subjects assigned to risperidone plus parent training. After 8 weeks of treatment, all active treatments were superior to placebo (effect sizes ranging from 0.42 to 0.65). The findings suggest that the Social Withdrawal subscale may be a useful measure of social disability in acute treatment trials.
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69. Smith K, Chandler K, Hindley D, Ramsden SC. {{Fragile X syndrome testing in the North West}}. {Arch Dis Child};2013 (Mar);98(3):239.
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70. Storch EA, Sulkowski ML, Nadeau J, Lewin AB, Arnold EB, Mutch PJ, Jones AM, Murphy TK. {{The Phenomenology and Clinical Correlates of Suicidal Thoughts and Behaviors in Youth with Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Feb 28)
This study investigated the phenomenology and clinical correlates of suicidal thoughts and behaviors in youth with ASD (N = 102; range 7-16 years). The presence of suicidal thoughts and behavior was assessed through the Anxiety Disorders Interview Schedule-Child and Parent Versions. Children and parents completed measures of anxiety severity, functional impairment, and behavioral and emotional problems. Approximately 11 % of youth displayed suicidal thoughts and behaviors. Children with autism were more likely to have suicidal thoughts and behaviors whereas children with Asperger’s disorder were less likely. Suicidal thoughts and behaviors were associated with the presence of depression and post-traumatic stress disorder. Overall, results suggest that suicidal thoughts and behaviors are common in youth with ASD, and may be related to depression and trauma.
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71. Sudhinaraset A, Kuo A. {{Parents’ perspectives on the role of pediatricians in autism diagnosis}}. {J Autism Dev Disord};2013 (Mar);43(3):747-748.
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72. Swanson MR, Serlin GC, Siller M. {{Broad autism phenotype in typically developing children predicts performance on an eye-tracking measure of joint attention}}. {J Autism Dev Disord};2013 (Mar);43(3):707-718.
We examined visual attention allocation during a set of social videos that are intended to elicit the coordination of attention with another person, compared to a control condition. Deficits in joint attention are a characteristic of young children with autism spectrum disorder (ASD). Participants included a diverse sample of 50 typically developing school-aged children between 3 and 9 years of age (M = 6:3, SD = 1:8). Results demonstrated that gaze allocation differed significantly between the experimental and control condition. Further, individual differences in gaze allocation were significantly predicted by a parent-report measure evaluating features of the broad autism phenotype. This study contributes to a research program that aims to develop and validate an endophenotype measure of ASD.
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73. Tassone F, Choudhary NS, Durbin-Johnson B, Hansen R, Hertz-Picciotto I, Pessah I. {{Identification of Expanded Alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) Study}}. {J Autism Dev Disord};2013 (Mar);43(3):530-539.
Fragile X syndrome (FXS) is a neuro-developmental disorder characterized by intellectual disabilities and autism spectrum disorders (ASD). Expansion of a CGG trinucleotide repeat (>200 repeats) in the 5’UTR of the fragile X mental retardation gene, is the single most prevalent cause of cognitive disabilities. Several screening studies for FXS, among individuals with ID from different ethnic populations, have indicated that the prevalence of the syndrome varies between 0.5 and 16 %. Because the high co-morbidity with autism, we have conducted a screening study of the cohort from CHARGE, a large-scale, population-based, case control study. We have identified six subjects carrying an expanded allele, which emphasize the importance of screening for FXS in a population with intellectual disabilities and ASD.
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74. Thompson S, Hiebert-Murphy D, Trute B. {{Parental perceptions of family adjustment in childhood developmental disabilities}}. {J Intellect Disabil};2013 (Mar);17(1):24-37.
Based on the adjustment phase of the double ABC-X model of family stress (McCubbin and Patterson, 1983) this study examined the impact of parenting stress, positive appraisal of the impact of child disability on the family, and parental self-esteem on parental perceptions of family adjustment in families of children with disabilities. For mothers, self-esteem and positive appraisal predicted maternal-perceived family adjustment and mediated the relationship between parenting stress and family adjustment. For fathers, while self-esteem and positive appraisal were not significant in directly predicting perceived family adjustment, self-esteem moderated the relationship between parenting stress and family adjustment. These results suggest that interventions that bolster self-esteem in parents may be useful in enhancing perceptions of family adjustment. Similarly, interventions that enhance mothers’ experiences of the positive aspects of parenting a child with disabilities hold potential to strengthen family adjustment.
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75. Thompson T. {{Autism research and services for young children: history, progress and challenges}}. {J Appl Res Intellect Disabil};2013 (Mar);26(2):81-107.
For three decades after Leo Kanner’s first clinical description, research progress in understanding and treating autism was minimal but since the late 1960s the growth of autism discoveries has been exponential, with a remarkable number of new findings published over the past two decades, in particular. These advances were made possible first by the discovery and dissemination of early intensive behavioural intervention (EIBI) for young children with autism that created the impetus for earlier accurate diagnosis. Other factors influencing the rapid growth in autism research were the first accepted diagnostic test for autism, the Autism Diagnostic Interview and Observation Schedule (ADI and ADOS). Developments in brain imaging and genetic technology combined to create a fuller understanding of the heterogeneity of autism, its multiple aetiologies, very early onset and course, and strategies for treatment. For a significant proportion of children with autism, it appears EIBI may be capable of promoting brain connectivity in specific cerebral areas, which is one of autism’s underlying challenges. Disagreements about the most appropriate early intervention approach between developmental and behavioural psychologists have been unproductive and not contributed to advancing the field. Naturalistic behavioural and structured discrete trial methods are being integrated with developmental strategies with promising outcomes. Over these past 30 years, young people with autism have gone from receiving essentially no proactive treatment, resulting in lives languishing in institutions, to today, when half of children receiving EIBI treatment subsequently participate in regular classrooms alongside their peers. The future has entirely changed for young people with autism. Autism has become an eminently treatable condition. The time is overdue to set aside philosophical quarrels regarding theories of child development and apply what we know for the benefit of children with autism and their families.
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76. Trottier M, Roberts W, Drmic I, Scherer SW, Weksberg R, Cytrynbaum C, Chitayat D, Shuman C, Miller FA. {{Parents’ perspectives on participating in genetic research in autism}}. {J Autism Dev Disord};2013 (Mar);43(3):556-568.
Genetic research in autism depends on the willingness of individuals with autism to participate; thus, there is a duty to assess participants’ needs in the research process. We report on families’ motives and expectations related to their participation in autism genetic research. Respondents valued having a genetic result, as it alleviates guilt, promotes awareness, and may be used to tailor interventions and for family planning. The act of participating was distinctly significant, as it provided personal control, a connection to autism experts, networking with families, and hope for the future. The results of this study highlight complex factors involved in families’ decisions to participate in autism genetic research and provide points to consider for this population of research participants.
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77. Tsuchiya KJ, Matsumoto K, Yagi A, Inada N, Kuroda M, Inokuchi E, Koyama T, Kamio Y, Tsujii M, Sakai S, Mohri I, Taniike M, Iwanaga R, Ogasahara K, Miyachi T, Nakajima S, Tani I, Ohnishi M, Inoue M, Nomura K, Hagiwara T, Uchiyama T, Ichikawa H, Kobayashi S, Miyamoto K, Nakamura K, Suzuki K, Mori N, Takei N. {{Reliability and validity of autism diagnostic interview-revised, Japanese version}}. {J Autism Dev Disord};2013 (Mar);43(3):643-662.
To examine the inter-rater reliability of Autism Diagnostic Interview-Revised, Japanese Version (ADI-R-JV), the authors recruited 51 individuals aged 3-19 years, interviewed by two independent raters. Subsequently, to assess the discriminant and diagnostic validity of ADI-R-JV, the authors investigated 317 individuals aged 2-19 years, who were divided into three diagnostic groups as follows: autistic disorder (AD), pervasive developmental disorder not otherwise specified, and other psychiatric diagnosis or no diagnosis, according to the consensus clinical diagnosis. As regards inter-rater reliability, intraclass correlation coefficients of greater than 0.80 were obtained for all three domains of ADI-R-JV. As regards discriminant validity, the mean scores of the three domains was significantly higher in individuals with AD than in those of other diagnostic groups. As regards diagnostic validity, sensitivity and specificity for correctly diagnosing AD were 0.92 and 0.89, respectively, but sensitivity was 0.55 for individuals younger than 5 years. Specificity was consistently high regardless of age and intelligence. ADI-R-JV was shown to be a reliable tool, and has sufficient discriminant validity and satisfactory diagnostic validity for correctly diagnosing AD, although the diagnostic validity appeared to be compromised with respect to the diagnosis of younger individuals.
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78. Tuchman RF. {{Deconstructing autism spectrum disorders: clinical perspective}}. {Rev Neurol};2013 (Feb 22);56(S01):S3-S12.
Autism spectrum disorder (ASD) is a term used to describe a heterogeneous group of children whose behaviorally defined characteristics overlap with the clinical manifestations of a variety of distinct behaviorally defined developmental disorders. ASD has many etiologies and strong but complex genetic and molecular underpinnings supporting genetic and phenotypic heterogeneity. Clinical and biological heterogeneity in ASD is consistent with the view of autism spectrum disorders as the expression of atypical brain development resulting in variable clinical manifestations that reflect differences in specific genetic and molecular pathways. It is likely that there are risk genes and early environmental risk factors for ASD that contribute to an altered trajectory of brain and behavioral development. These alterations are hypothesized to lead to altered social interaction and consequently to abnormal development of the neural networks critical for social and communicative interaction. This amplifies the abnormal socio-communicative developmental process leading to the full ASD syndrome. The hope is that interventions can alter these early developmental processes and put an infant back on a more typical developmental trajectory. In this discussion an overview of the limitations of the triad of behaviors used to diagnose ASD, specifically from the perspective of how these issues impact diagnosis and treatment of children with ASD will be presented and the clinical boundaries of the autism spectrum will be explored.
79. Tye C, Bolton P. {{Neural connectivity abnormalities in autism: Insights from the tuberous sclerosis model}}. {BMC Med};2013 (Feb 27);11(1):55.
Autism Spectrum Disorder (ASD) is a behavioral syndrome caused by complex genetic and non-genetic risk factors. It has been proposed that these risk factors lead to alterations in the development and ‘wiring’ of brain circuits and hence, the emergence of ASD. Although several lines of research lend support to this theory, etiological and clinical heterogeneity, methodological issues and inconsistent findings have led to significant doubts. One of the best established, albeit rare, causes of ASD is the genetic condition Tuberous Sclerosis Complex (TSC), where 40% of individuals develop ASD. A recent study by Peters and Taquet et al. analyzed electroencephalography (EEG) data using graph theory to model neural ‘connectivity’ in individuals with TSC with and without ASD and cases with ‘idiopathic’ ASD. TSC cases exhibited global under-connectivity and abnormal network topology, whereas individuals with TSC + ASD demonstrated similar connectivity patterns to those seen in individuals with idiopathic ASD: decreased long- over short-range connectivity. The similarity in connectivity abnormalities in TSC + ASD and ASD suggest a common final pathway and provide further support for ‘mis-wired’ neural circuitry in ASD. The origins of the connectivity changes, and their role in mediating between the neural and the cognitive / behavioral manifestations, will require further study. Please see related research article here http://www.biomedcentral.com/1741-7015/11/54.
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80. Walton KM, Ingersoll BR. {{Improving social skills in adolescents and adults with autism and severe to profound intellectual disability: a review of the literature}}. {J Autism Dev Disord};2013 (Mar);43(3):594-615.
Social skills are important treatment targets for individuals with autism spectrum disorders (ASD) across the lifespan. However, few treatments are available for adolescents and adults with ASD who also have severe to profound intellectual disability (S/PID). Several social skill interventions have been described that may improve social skills in this population, including video modeling, developmental, peer-mediated, behavioral, and structured teaching interventions. However, significant challenges in research design and methodology exist across these studies. This paper reviews research examining social skill interventions for youth and adults with ASD and S/PID and points out weaknesses and challenges in this literature. We propose a developmental framework of adapting early childhood interventions for use with youth and adults with ASD and S/PID as one starting point for intervention development.
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81. Warren Z, Taylor JL, McPheeters ML, Worley K, Veenstra-Vander Weele J.2012 (Sep Spectrum Disorders: Identification of Future Research Needs From Comparative Effectiveness Review No. 65)
This Future Research Needs (FRN) report is based on a draft Agency for Healthcare Research and Quality comparative effectiveness review titled Interventions for Adolescents and Young Adults with autism spectrum disorder. The purpose of the review was to synthesize recent research focused on interventions for adolescents and young adults between the ages of 13 and 30 with autism spectrum disorder (ASD; autistic disorder, Asperger’s syndrome, pervasive developmental disorder-not otherwise specified). We addressed questions related to: the effectiveness of therapies targeting core symptoms of ASD (impairments in communication, social interaction, and behavior); common medical or mental health comorbidities, including associated symptoms such as irritability; the process of transitioning to adulthood; and family outcomes. The draft review is based on literature searches that were executed between September 2010 and December 2011. The publication of the final review is expected for August 2012.
82. Webster AA, Carter M. {{A descriptive examination of the types of relationships formed between children with developmental disability and their closest peers in inclusive school settings}}. {J Intellect Dev Disabil};2013 (Mar);38(1):1-11.
Abstract Background One of the most commonly cited rationales for inclusive education is to enable the development of quality relationships with typically developing peers. Relatively few researchers have examined the features of the range of relationships that children with developmental disability form in inclusive school settings. Method Interviews were conducted with 25 children with developmental disability, aged 5 and 12 years, their 3 closest peers, and parents and teachers to examine 6 types of relationships. Results Behaviours associated with general friendship and acquaintance were the most commonly reported. Few dyads reported high rates of behaviour associated with special treatment, helping, ignoring, or intimate best friend relationships. Conclusions The relationships of the majority of dyads were characterised by friendship or acceptance, but evidence of more intimate relationships was limited. An important direction for future research is the examination of ways to encourage more intimate relationships.
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83. Winarni TI, Mundhofir FE, Ediati A, Belladona M, Nillesen WM, Yntema HG, Hamel BC, Faradz SM, Hagerman RJ. {{The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia}}. {Clin Genet};2013 (Mar);83(3):263-268.
Fragile X-associated disorders caused by the premutation of the FMR1 gene, includes the fragile X-associated tremor/ataxia syndrome (FXTAS). FXTAS affects more than 40% of premutation males over the age of 50 and 75% over the age of 80. FMR1 molecular analysis was done using PCR and confirmed by Southern Blot. Three premutation males were diagnosed FXTAS using quantification based on the standard neurological examination. Cognitive impairment was assessed using Raven and WAIS-R test. MRI was done to identify the middle cerebellar peduncle (MCP) sign, white matter disease and/or cerebral atrophy. Three cases of FXTAS are identified, of five individuals older than 50 years in one family tree two met criteria for definite FXTAS and the third with sub-clinical symptoms, although cognitive and radiological criteria are met. These cases are the first identified FXTAS cases in rural Indonesia. In addition with lack of routine medical follow-up, complications of FXTAS, such as hypertension may go unrecognized and untreated, which may further exacerbate the central nervous system (CNS) findings of FXTAS.
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84. Ziats MN, Rennert OM. {{Aberrant Expression of Long Noncoding RNAs in Autistic Brain}}. {J Mol Neurosci};2013 (Mar);49(3):589-593.
The autism spectrum disorders (ASD) have a significant hereditary component, but the implicated genetic loci are heterogeneous and complex. Consequently, there is a gap in understanding how diverse genomic aberrations all result in one clinical ASD phenotype. Gene expression studies from autism brain tissue have demonstrated that aberrantly expressed protein-coding genes may converge onto common molecular pathways, potentially reconciling the strong heritability and shared clinical phenotypes with the genomic heterogeneity of the disorder. However, the regulation of gene expression is extremely complex and governed by many mechanisms, including noncoding RNAs. Yet no study in ASD brain tissue has assessed for changes in regulatory long noncoding RNAs (lncRNAs), which represent a large proportion of the human transcriptome, and actively modulate mRNA expression. To assess if aberrant expression of lncRNAs may play a role in the molecular pathogenesis of ASD, we profiled over 33,000 annotated lncRNAs and 30,000 mRNA transcripts from postmortem brain tissue of autistic and control prefrontal cortex and cerebellum by microarray. We detected over 200 differentially expressed lncRNAs in ASD, which were enriched for genomic regions containing genes related to neurodevelopment and psychiatric disease. Additionally, comparison of differences in expression of mRNAs between prefrontal cortex and cerebellum within individual donors showed ASD brains had more transcriptional homogeneity. Moreover, this was also true of the lncRNA transcriptome. Our results suggest that further investigation of lncRNA expression in autistic brain may further elucidate the molecular pathogenesis of this disorder.
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85. Zmigrod S, de Sonneville LM, Colzato LS, Swaab H, Hommel B. {{Cognitive control of feature bindings: evidence from children with autistic spectrum disorder}}. {Psychol Res};2013 (Mar);77(2):147-154.
Understanding how the brain integrates features from different domains that are processed in distinct cortical regions calls for the examination of integration processes. Recent studies of feature-repetition effects demonstrated interactions across perceptual features and action-related features: repeating only some features of the perception-action episode hinders performance. These partial-repetition costs point to the existence of temporary memory traces (event files). However, the principles and the constraints that govern the management of such traces are still unclear. Here, we investigated whether children with autistic spectrum disorder (ASD) differ from typically developing children in managing episodic memory traces. The results show that both groups integrate stimulus features along with action features, but children with ASD exhibit larger partial-repetition costs, suggesting lesser control and flexibility in updating episodic memory traces. The findings are discussed in the light of evidence for a central role of the dopaminergic system in cognitive integration, ASD, and cognitive control.
