1. Akechi H, Kikuchi Y, Tojo Y, Osanai H, Hasegawa T. {{Brief report: pointing cues facilitate word learning in children with autism spectrum disorder}}. {J Autism Dev Disord}. 2013 Jan;43(1):230-5.
Children with autism spectrum disorder (ASD) reportedly have difficulty associating novel words to an object via the speaker’s gaze. It has also been suggested that their performance is related to their gaze duration on the object and improves when the object moves and becomes more salient. However, there is a possibility that they have only relied on the object’s movement and have not referenced the speaker’s cue (i.e. gaze direction). The current study with children with ASD and typically developing children aged 6-11 years demonstrated that adding another speaker’s cue (i.e. pointing) improves the performance of children with ASD. This suggests that additional speaker’s cues may help referential word learning in children with ASD.
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2. Aldinger KA, Kogan J, Kimonis V, Fernandez B, Horn D, Klopocki E, Chung B, Toutain A, Weksberg R, Millen KJ, Barkovich AJ, Dobyns WB. {{Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion}}. {Am J Med Genet A}. 2013 Jan;161(1):131-6.
The 22q13.3 deletion causes a neurodevelopmental syndrome, also known as Phelan-McDermid syndrome (MIM #606232), characterized by developmental delay and severe delay or absence of expressive speech. Two patients with hemizygous chromosome 22q13.3 telomeric deletion were referred to us when brain-imaging studies revealed cerebellar vermis hypoplasia (CBVH). To determine whether developmental abnormalities of the cerebellum are a consistent feature of the 22q13.3 deletion syndrome, we examined brain-imaging studies for 10 unrelated subjects with 22q13 terminal deletion. In seven cases where the availability of DNA and array technology allowed, we mapped deletion boundaries using comparative intensity analysis with single nucleotide polymorphism (SNP) microarrays. Approximate deletion boundaries for three additional cases were derived from clinical or published molecular data. We also examined brain-imaging studies for a patient with an intragenic SHANK3 mutation. We report the first brain-imaging data showing that some patients with 22q13 deletions have severe posterior CBVH, and one individual with a SHANK3 mutation has a normal cerebellum. This genotype-phenotype study suggests that the 22q13 deletion phenotype includes abnormal posterior fossa structures that are unlikely to be attributed to SHANK3 disruption. Other genes in the region, including PLXNB2 and MAPK8IP2, display brain expression patterns and mouse mutant phenotypes critical for proper cerebellar development. Future studies of these genes may elucidate their relationship to 22q13.3 deletion phenotypes. (c) 2012 Wiley Periodicals, Inc.
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3. Almeida DM, Jean MR, Chystsiakova A, Monahan E, Oliveira SB, Monteiro IM. {{Levetiracetam-associated acute pancreatitis in an adolescent with autism: a case report}}. {Pancreas}. 2013 Jan;42(1):177-8.
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4. Andersson GW, Gillberg C, Miniscalco C. {{Pre-school children with suspected autism spectrum disorders: Do girls and boys have the same profiles?}}. {Research in developmental disabilities}. 2013 Jan;34(1):413-22.
The male to female ratio is raised in autism spectrum disorders (ASD). Previous studies have suggested that girls with ASD have more problems with communication than boys, but boys show more repetitive behaviours than girls. In this study, 20 girls, 1.8-3.9 years of age were matched for chronological and developmental age with 20 boys with suspected ASD. All the children were recruited after population screening and referral by Child Health Care Services to a specialised neuropsychiatry clinic, where they underwent comprehensive neuropsychiatric assessments. Comparisons were made with regard to diagnosis, developmental profiles and global disability. No significant gender differences were found. There were strong correlations between results obtained in different developmental areas. The results suggest that either (1) previous studies finding clear gender differences may have overrated discrepancies between girls and boys in ASD, or that (2) there may be girls, who will not be identified in the early years with our current screening instruments. More research with a much larger population representative study samples is required.
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5. Archibald AD, Hickerton CL, Jaques AM, Wake S, Cohen J, Metcalfe SA. {{« It’s about having the choice »: Stakeholder perceptions of population-based genetic carrier screening for fragile X syndrome}}. {Am J Med Genet A}. 2013 Jan;161(1):48-58.
This project explored, the views of key stakeholders regarding population-based genetic carrier screening for fragile X syndrome (FXS). Interviews and focus groups were conducted with healthcare providers, relatives of individuals with FXS and members of the general population. Data were transcribed verbatim and coded into themes. 188 individuals took part in this study. Perceived benefits of carrier screening included: learning the risk of having a child with FXS; learning the risk of fragile X-associated primary ovarian insufficiency; and the opportunity for carriers to access reproductive options. Concerns included: the emotional impact of screening and receiving a carrier result; the predictive testing nature of the carrier test with respect to fragile X-associated tremor/ataxia syndrome; potential confusion created by receiving an intermediate result; and implications of genetic screening for society. Overall, population-based genetic carrier screening was perceived to be acceptable provided it is optional and offered at an appropriate stage of life. With the support of the participants to promote individual choice by offering a population-based carrier screening program for FXS, it is essential to carefully consider how screening might be offered in order to ensure broad accessibility and facilitation of decision-making. (c) 2012 Wiley Periodicals, Inc.
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6. Asadabadi M, Mohammadi MR, Ghanizadeh A, Modabbernia A, Ashrafi M, Hassanzadeh E, Forghani S, Akhondzadeh S. {{Celecoxib as adjunctive treatment to risperidone in children with autistic disorder: a randomized, double-blind, placebo-controlled trial}}. {Psychopharmacology}. 2013 Jan;225(1):51-9.
RATIONAL: Autism is associated with activation of the inflammatory response system. OBJECTIVE: This study aims to assess the efficacy of a cyclooxygenase-2 inhibitor, celecoxib, as adjunctive therapy in the treatment of autism METHODS: In a 10-week randomized double-blind placebo-controlled study, 40 outpatient children with a Diagnostic and Statistical Manual of Mental Disorders, fourth edition, text revision clinical diagnosis of autism were randomly allocated to celecoxib plus risperidone or placebo plus risperidone. The dose of risperidone and celecoxib were titrated up to 3 and 300 mg/day, respectively. Patients were assessed at baseline and after 2, 4, 6, and 10 weeks of starting medication using the Aberrant Behavior Checklist-Community (ABC-C) Rating Scale. Primary outcome measure was the change in irritability subscale of ABC-C. RESULTS: Significant time x treatment interaction was observed for Irritability (F (1.658, 63.021) = 13.580, P < 0.001), Lethargy/Social Withdrawal (F (1.948, 74.032) = 16.811, P < 0.001), and Stereotypic Behavior (F(1.742, 66.198) = 12.104, P < 0.001), but not for Hyperactivity/Noncompliance (F (2.564, 97.424) = 1.469, P = 0.232), and Inappropriate Speech subscales (F (1.607, 61.075) = 0.173, P = 0.794). By week 10, patients in the celecoxib group showed significantly greater improvement in the Irritability (P < 0.001), Lethargy/Social Withdrawal (P < 0.001), and Stereotypic Behavior (P < 0.00) but not in Hyperactivity/Noncompliance (P = 0.202) and Inappropriate Speech (P = 0.802) subscales than the placebo group. Complete response was achieved by four (20 %) patients in the placebo group and 11 (55 %) patients in the celecoxib group (chi (2) (1) = 5.227, P = 0.022). Frequency of side effects was similar between the two groups. CONCLUSIONS: Combination of risperidone and celecoxib was superior to risperidone alone in treating irritability, social withdrawal, and stereotypy of children with autism. (Registration, www.irct.ir ; IRCT138711091556N2).
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7. Bal E, Yerys BE, Sokoloff JL, Celano MJ, Kenworthy L, Giedd JN, Wallace GL. {{Do Social Attribution Skills Improve with Age in Children with High Functioning Autism Spectrum Disorders?}}. {Research in autism spectrum disorders}. 2013;7(1):9-16.
Age-related changes in social attribution skills were assessed using the « Triangles Playing Tricks » task in 7-17 year old high functioning children with ASDs (n=41) and in typically developing (TD) children (n=58) matched on age, IQ, and sex ratio. Children with ASDs gave responses that received lower intentionality and appropriateness ratings than did TD children in both the goal-directed and theory of mind (ToM) conditions. Results remained unchanged when the effects of verbal output (i.e., number of clause produced) and verbal IQ were included as covariates in the analyses. Whereas age was highly associated with ToM performance in the TD children, this relationship was not as strong among children with ASDs. These results indicate not only a diminished tendency among high functioning children with ASDs to attribute social meaning and intentionality to ambiguous visual displays of interactive forms but also an aberrant developmental trajectory. That is, children with ASDs may fall further behind their typically developing peers in social attribution abilities as they get older.
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8. Becker B, Kruppert S, Kostev K. {{Economic prescribing of corticosteroid nasal sprays in Germany. Comparison of mometasone and budesonide nasal sprays on the basis of the DDD, the PDD and reference prices}}. {International journal of clinical pharmacology and therapeutics}. 2013 Jan;51(1):12-8.
Aim: According to the German Social Security Code (SGB V), drugs should be prescribed on a cost-effective basis. An attempt is made to achieve this in Germany with the help of the DDD system and reference prices. Taking the example of the most frequently prescribed corticosteroid nasal sprays containing the active substances budesonide (BNS) or mometasone (MNS), we will show here that the DDD system is not necessarily suitable for tapping economic reserves. Despite the pharmacologic differences between the two substances, a uniformly defined daily dose (DDD) is assumed for both. Moreover, since 2006 they have formed a reference-price group of nasally administered medication with other active substances. Products were compared with regard to potential differences in patient populations and resulting treatment costs. The extent to which the two instruments are suitable for tapping economic reserves were estimated. Methods: We analyzed longitudinal diagnostic and prescription data in the IMS(R) Disease Analyzer Database from the period 2006 to July 2010. Results: In total we analyzed data from 16,163 MNS and 4,218 BNS patients from GP practices plus 11,103 MNS and 2,521 BNS patients from ENT practices. The average quantity prescribed per patient differed in favor of MNS by -111.5 (for first prescriptions) to -260.1 puffs (after 730 days) in GP practices and by -137.3 to -488.3 puffs in ENT practices (p < 0.001). The mean calculated treatment cost per year from the point of view of the statutory health insurer was 20.40 euro (GP practices) and 30.50 euro (ENT practices) for MNS compared to 22.40 euro (GP practices) and 32.10 euro (ENT practices) for BNS. Based on the price level after the 2011 referenceprice adjustment, the treatment costs are 16.40 euro (GP practices) and 24.20 euro (ENT practices) for MNS versus 21.20 euro (GP practices) and 32.30 euro (ENT practices) for BNS. Conclusion: The volumes of MNS actually prescribed are significantly lower than those of BNS in the compared patient populations. Based on the actual consumption of the substances, there is no treatment-cost advantage for BNS in comparison to MNS from the statutory health insurer’s point of view. By contrast, the reference-price adjustment results in a greater reduction of treatment costs for mometasone, so that in this case the statutory health insurer is able to tap economic reserves. Both the comparative parameters used for calculating the reference price and the DDD system are only conditionally suitable for tapping economic reserves for drugs.
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9. Bedford R, Gliga T, Frame K, Hudry K, Chandler S, Johnson MH, Charman T, The Basis T. {{Failure to learn from feedback underlies word learning difficulties in toddlers at risk for autism}}. {Journal of child language}. 2013 Jan;40(1):29-46.
ABSTRACT Children’s assignment of novel words to nameless objects, over objects whose names they know (mutual exclusivity; ME) has been described as a driving force for vocabulary acquisition. Despite their ability to use ME to fast-map words (Preissler & Carey, 2005), children with autism show impaired language acquisition. We aimed to address this puzzle by building on studies showing that correct referent selection using ME does not lead to word learning unless ostensive feedback is provided on the child’s object choice (Horst & Samuelson, 2008). We found that although toddlers aged 2;0 at risk for autism can use ME to choose the correct referent of a word, they do not benefit from feedback for long-term retention of the word-object mapping. Further, their difficulty using feedback is associated with their smaller receptive vocabularies. We propose that difficulties learning from social feedback, not lexical principles, limits vocabulary building during development in children at risk for autism.
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10. Beuker KT, Schjolberg S, Lie KK, Donders R, Lappenschaar M, Swinkels SH, Buitelaar JK. {{The structure of autism spectrum disorder symptoms in the general population at 18 months}}. {J Autism Dev Disord}. 2013 Jan;43(1):45-56.
It is unclear whether symptoms of autism spectrum disorder (ASD) in young children in the population fit the three-factor structure of ASD as described in the DSM-IV, and cluster together in individual subjects. This study analysed questionnaire data on ASD symptoms filled in by mothers of 11,332 18-month-old children that was collected in the context of the Norwegian Mother and Child Cohort Study conducted by the Norwegian Institute of Public Health. Confirmatory Factor Analyses showed that the three-factor model had a significantly better fit then the two- and one-factor model of ASD symptoms. Latent class analysis revealed four homogeneous groups of children (classes) with different scores for Social Interaction and Communication at one hand and Stereotypies/Rigidity at the other hand.
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11. Beurkens NM, Hobson JA, Hobson RP. {{Autism severity and qualities of parent-child relations}}. {J Autism Dev Disord}. 2013 Jan;43(1):168-78.
The aim of this study was to examine how severity of autism affects children’s interactions (relatedness) and relationships with their parents. Participants were 25 parent-child dyads that included offspring who were children with autism aged from 4 to 14 years. The severity of the children’s autism was assessed using the calibrated severity metric of the Autism Diagnostic Observation Schedule (Gotham et al. in J Autism Dev Disord 39:693-705, 2009). Parent-child dyads were videotaped in 10-min semi-structured play interactions, and qualities of interpersonal relatedness were rated with the Dyadic Coding Scales (Humber and Moss in Am J Orthopsychiatr 75(1):128-141, 2005). Quality of relationships between parents and children were evaluated with a parent self-report measure, the Parent Child Relationship Inventory (Gerard in Parent-Child Relationship Inventory (PCRI) manual. WPS, Los Angeles, 1994). Multivariate regression analysis revealed that severity of autism was inversely related to patterns of parent-child interaction but not to reported quality of parent-child relationship. We consider the implications for thinking about relatedness and relationships among children with autism, and opportunities for intervention.
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12. Bryce CI, Jahromi LB. {{Brief report: compliance and noncompliance to parental control strategies in children with high-functioning autism and their typical peers}}. {J Autism Dev Disord}. 2013 Jan;43(1):236-43.
The present study examined children’s compliance and noncompliance behaviors in response to parental control strategies in 20 children with high-functioning autism (HFA) and 20 matched typically-developing children. Observational coding was used to measure child compliance (committed, situational), noncompliance (passive, defiance, self-assertion, negotiation) and parent control strategies (commands, reprimands, positive incentives, reasoning, bargaining) in a clean-up task. Sequential analyses were conducted to identify parent behaviors that temporally predicted child compliance or noncompliance. Children with HFA were significantly more noncompliant and less compliant immediately following parents’ indirect commands than typically-developing children, even after controlling for receptive language. These results add to the existing literature on the efficacy of control strategies for children with autism, and have important implications for caregiver interventions.
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13. Burnett HG, Jellema T. {{(Re-)conceptualisation in Asperger’s Syndrome and Typical Individuals with Varying Degrees of Autistic-like Traits}}. {J Autism Dev Disord}. 2013 Jan;43(1):211-23.
The abilities to form new concepts from scratch (conceptualisation), and to flexibly switch from one concept to another (re-conceptualisation), were investigated in adults with Asperger’s Syndrome and in typically-developed adults with low and high autism spectrum quotients. In consecutively presented morphs, containing increasing percentages of animate or inanimate objects, the emerging objects had to be identified. The abilities to conceptualise and reconceptualise became increasingly impaired with increasing autistic(-like) traits. Across both tasks, all groups recognised animate objects quicker than inanimate objects. However, this ‘animate advantage’ was differently affected by the two tasks. In the Reconceptualisation task, the ‘animate advantage’ gradually disappeared with increasing autistic(-like) traits, whereas in the Conceptualisation task it remained present.
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14. Cannon B, Pan C, Chen L, Hadd AG, Russell R. {{A Dual-Mode Single-Molecule Fluorescence Assay for the Detection of Expanded CGG Repeats in Fragile X Syndrome}}. {Molecular biotechnology}. 2013 Jan;53(1):19-28.
Fragile X syndrome is the leading cause of inherited mental impairment and is associated with expansions of CGG repeats within the FMR1 gene. To detect expanded CGG repeats, we developed a dual-mode single-molecule fluorescence assay that allows acquisition of two parallel, independent measures of repeat number based on (1) the number of Cy3-labeled probes bound to the repeat region and (2) the physical length of the electric field-linearized repeat region, obtained from the relative position of a single Cy5 dye near the end of the repeat region. Using target strands derived from cell-line DNA with defined numbers of CGG repeats, we show that this assay can rapidly and simultaneously measure the repeats of a collection of individual sample strands within a single field of view. With a low occurrence of false positives, the assay differentiated normal CGG repeat lengths (CGG( N ), N = 23) and expanded CGG repeat lengths (CGG( N ), N = 118), representing a premutation disease state. Further, mixtures of these DNAs gave results that correlated with their relative populations. This strategy may be useful for identifying heterozygosity or for screening collections of individuals, and it is readily adaptable for screening other repeat disorders.
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15. Castro S, Pinto AI. {{Identification of core functioning features for assessment and intervention in Autism Spectrum Disorders}}. {Disability and rehabilitation}. 2013 Jan;35(2):125-33.
Purpose: Framed within a biopsychosocial approach, this study aimed to identify the main functionality dimensions that experts in the field of child development and child psychopathology considered as essential in the assessment-intervention process with young children with Autism Spectrum Disorders (ASD), using the International Classification of Functionality, Disability and Health for Children and Youth. Method: The Delphi method was used to obtain consensus among experts regarding the essential functionality features for the rehabilitation of young children with ASD. Therefore, web-based three-round survey was developed. Results: There are more functionality features identified as more essential for the age group 3-6 than from the group birth-2 years of age. 49.4% of activities and participation dimensions were regarded as essential by experts, while only 13.9% of body functions were selected. 39.9% of environmental factors were also marked by experts as essential. Conclusions: Pervasive Developmental Disorders (PDD) are classified in diagnostic manuals-DSM-IV-TR and ICD-10. These classifications are valuable to detect signs/symptoms of health conditions; however, they are often not sufficient to develop individualized interventions. More functional information is needed to complement diagnostic data. The identified functionality dimensions of the ICF-CY complement diagnosis by differentiating relevant functioning aspects in all life domains, according to the biopsychosocial model and should always be addressed in the process of rehabilitation of young children with ASD. [Box: see text].
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16. Clifford T, Minnes P. {{Who participates in support groups for parents of children with autism spectrum disorders? The role of beliefs and coping style}}. {J Autism Dev Disord}. 2013 Jan;43(1):179-87.
One hundred forty-nine parents of children with autism spectrum disorders (ASD) completed online questionnaires measuring their beliefs about support groups and ASD, coping style, social support, mood, and use of support groups. Those currently using parent support groups (PSGs) reported using more adaptive coping strategies than both parents who had never used PSGs and parents who had used PSGs in the past. Past PSG users reported that they did not find the groups as beneficial as current users, and parents who had never participated in PSGs reported difficulties with the accessibility of PSGs. Based on the current results, interventions for parents of children with ASD that are focused on meeting the needs identified by participating parents may be most effective.
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17. Clopper CG, Rohrbeck KL, Wagner L. {{Perception of talker age by young adults with high-functioning autism}}. {J Autism Dev Disord}. 2013 Jan;43(1):134-46.
People with high-functioning Autism (HFA) can accurately identify social categories from speech, but they have more difficulty connecting linguistic variation in the speech signal to social stereotypes associated with those categories. In the current study, the perception and evaluation of talker age by young adults with HFA was examined. The participants with HFA performed similarly to a typically-developing comparison group in age classification and estimation tasks. Moreover, the participants with HFA were able to differentiate among talkers of different ages in a language attitudes task and rated older talkers as more intelligent than younger talkers. These results suggest that people with HFA are able to make reasonable social judgments about talkers based on their speech, at least for familiar social categories and personally relevant social attitudes.
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18. Dimitropoulos A, Ho A, Feldman B. {{Social responsiveness and competence in prader-willi syndrome: direct comparison to autism spectrum disorder}}. {J Autism Dev Disord}. 2013 Jan;43(1):103-13.
Prader-Willi syndrome (PWS), a neurodevelopmental disorder primarily characterized by hyperphagia and food preoccupations, is caused by the absence of expression of the paternally active genes in the proximal arm of chromosome 15. Although maladaptive behavior and the cognitive profile in PWS have been well characterized, social functioning has only more recently been systematically examined. Findings to date indicate the social impairment exhibited may reflect specific difficulty interpreting and using social information effectively. In addition, evidence suggests that there is an increased risk of social deficits in people with the maternally-derived uniparental disomy (mUPD) subtype of PWS in comparison to those with 15q11-13 paternal deletion (DEL). Using the Social Responsiveness Scale (SRS) and the Social Competence Inventory, our goal was to compare social functioning in PWS to individuals with autism spectrum disorder (ASD). Participants with mUPD scored similarly to the ASD group across most SRS domains. All groups had difficulty with social competence, although the DEL group scored highest on prosocial behavior. Findings suggest further characterization of social behavior in PWS is necessary to aid in advancing the understanding of the contributions of genes in the 15q11-13 critical region to ASD susceptibility, particularly with respect to the overexpression of maternally expressed genes in this region, as well as aiding in awareness and development/implementation of interventions.
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19. Doherty-Sneddon G, Whittle L, Riby DM. {{Gaze aversion during social style interactions in autism spectrum disorder and Williams syndrome}}. {Research in developmental disabilities}. 2013 Jan;34(1):616-26.
During face-to-face interactions typically developing individuals use gaze aversion (GA), away from their questioner, when thinking. GA is also used when individuals with autism (ASD) and Williams syndrome (WS) are thinking during question-answer interactions. We investigated GA strategies during face-to-face social style interactions with familiar and unfamiliar interlocutors. Participants with WS and ASD used overall typical amounts/patterns of GA with all participants looking away most while thinking and remembering (in contrast to listening and speaking). However there were a couple of specific disorder related differences: participants with WS looked away less when thinking and interacting with unfamiliar interlocutors; in typical development and WS familiarity was associated with reduced gaze aversion, however no such difference was evident in ASD. Results inform typical/atypical social and cognitive phenotypes. We conclude that gaze aversion serves some common functions in typical and atypical development in terms of managing the cognitive and social load of interactions. There are some specific idiosyncracies associated with managing familiarity in ASD and WS with elevated sociability with unfamiliar others in WS and a lack of differentiation to interlocutor familiarity in ASD. Regardless of the familiarity of the interlocutor, GA is associated with thinking for typically developing as well as atypically developing groups. Social skills training must take this into account.
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20. Durand T, De Felice C, Signorini C, Oger C, Bultel-Ponce V, Guy A, Galano JM, Leoncini S, Ciccoli L, Pecorelli A, Valacchi G, Hayek J. {{F(2)-Dihomo-isoprostanes and brain white matter damage in stage 1 Rett syndrome}}. {Biochimie}. 2013 Jan;95(1):86-90.
Oxidative damage has been reported in Rett syndrome (RTT), a pervasive development disorder mainly caused up to 95% of cases by mutations in the X-linked methyl-CpG binding protein 2 (MeCP2) gene. We have recently synthesized F(2)-Dihomo-isoprostanes (F(2)-Dihomo-IsoP), peroxidation products from adrenic acid (C22:4 n – 6, AdA), a known component of myelin, and tested the potential value of F(2)-Dihomo-IsoPs as a novel disease marker and its relationship with clinical presentation, and disease progression. F(2)-Dihomo-IsoPs were determined by a gas chromatography/negative ion chemical ionization tandem mass spectrometry. The ent-7(RS)-F(2t)-Dihomo-IsoP and 17-F(2t)-Dihomo-IsoP were used as reference standards. The measured ions were the product ions at m/z 327 derived from the [M – 181](-) precursor ions (m/z 597) produced from both the derivatized ent-7(RS)-F(2t)-Dihomo-IsoP and 17-F(2t)-Dihomo-IsoP. Average plasma F(2)-Dihomo-IsoP levels in RTT were about 1 order of magnitude higher than in healthy controls, being higher in typical RTT as compared to RTT variants, with a remarkable increase of about 2 orders of magnitude in patients at the earliest stage of the disease followed by a steady decrease during the natural clinical progression. These data indicate for the first time that quantification of F(2)-Dihomo-IsoPs in plasma represents an early marker of the disease and may provide a better understanding of the pathogenic mechanisms behind the neurological regression in patients with RTT.
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21. Ellegood J, Babineau BA, Henkelman RM, Lerch JP, Crawley JN. {{Neuroanatomical analysis of the BTBR mouse model of autism using magnetic resonance imaging and diffusion tensor imaging}}. {NeuroImage}. 2012 Dec 26.
Autism is a neurodevelopmental disorder characterized by abnormal reciprocal social interactions, communication deficits, and repetitive behaviours with restricted interests. Autism-relevant phenotypes in the inbred mouse strain BTBR T+tf/J (BTBR) offer translational tools to discover biological mechanisms underlying unusual mouse behaviours analogous to symptoms of autism. Two of the most consistent findings with BTBR are lack of sociability as measured by the three-chamber social approach task and increased amount of time engaged in self-grooming in an empty cage. Here we evaluated BTBR as compared to two typical inbred strains with high sociability and low self-grooming, C57BL/6J (B6) and FVB/AntJ (FVB), on both the automated three-chambered social approach task and repetitive self-grooming assays. Brains from the behaviourally tested mice were analyzed using magnetic resonance imaging and diffusion tensor imaging to investigate potential neuroanatomical abnormalities throughout the brain; specifically, to discover neuroanatomical mechanisms which could explain the autism-relevant behavioural abnormalities. Significant differences in volume and white matter microstructure were detected in multiple anatomical regions throughout the brain of BTBR compared to B6 and FVB. Further, significant correlations were found between behavioural measures and areas of the brain known to be associated with those behaviours. For example, striatal volume was strongly correlated to time spent in self-grooming across strains. Our findings suggest that neuropathology exists in BTBR beyond the previously reported white matter abnormalities in the corpus callosum and hippocampal commissure and that these brain differences may be related to the behavioural abnormalities seen in BTBR.
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22. Enticott PG, Oberman LM. {{Synaptic plasticity and non-invasive brain stimulation in autism spectrum disorders}}. {Dev Med Child Neurol}. 2013 Jan;55(1):13-4.
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23. Eriksson MA, Westerlund J, Hedvall A, Amark P, Gillberg C, Fernell E. {{Medical conditions affect the outcome of early intervention in preschool children with autism spectrum disorders}}. {European child & adolescent psychiatry}. 2013 Jan;22(1):23-33.
The aim was to explore the frequency of genetic and other medical conditions, including epilepsy, in a population-based group of 208 preschool children with early diagnosis of Autism spectrum disorders (ASD) and to relate outcome at a 2-year follow-up to the co-existing medical findings. They had all received early intervention. The Vineland Adaptive Behaviour Scales (VABS-II) composite score served as the primary outcome measure. In the total group, 38/208 children (18 %) had a significant medical or genetic condition. Epilepsy was present in 6.3 % at the first assessment and in 8.6 % at follow-up and was associated with more severe intellectual impairment. A history of regression was reported in 22 %. Children with any medical/genetic condition, including epilepsy, as well as children with a history of regression had significantly lower VABS-II scores at the 2-year follow-up. Children with a medical/genetic condition, including epilepsy, had been diagnosed with ASD at an earlier age than those without such conditions, and early age at diagnosis also correlated negatively with adaptive functioning outcome. The results underscore the importance of considering medical/genetic aspects in all young children with ASD and the requirement to individualize and tailor interventions according to their specific needs.
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24. Ewing L, Pellicano E, Rhodes G. {{Atypical updating of face representations with experience in children with autism}}. {Dev Sci}. 2013 Jan;16(1):116-23.
Face identity aftereffects are significantly diminished in children with autism relative to typical children, which may reflect reduced perceptual updating with experience. Here, we investigated whether this atypicality also extends to non-face stimulus categories, which might signal a pervasive visual processing difference in individuals with autism. We used a figural aftereffect task to measure directly perceptual updating following exposure to distorted upright faces, inverted faces and cars, in typical children and children with autism. A size-change between study and test stimuli limited the likelihood that any processing atypicalities reflected group differences in adaptation to low-level features of the stimuli. Results indicated that, relative to typical children, figural aftereffects for upright faces, but not inverted faces or cars, were significantly attenuated in children with autism. Moreover, the group difference was amplified when we isolated the ‘face-selective’ component of the aftereffect, by partialling out the mid-level shape adaptation common to upright and inverted face stimuli. Notably, the aftereffects of typical children were disproportionately larger for upright faces than for inverted faces and cars, but the magnitude of aftereffects of autistic children was not similarly modulated according to stimulus category. These findings are inconsistent with a pervasive adaptive coding atypicality relative to typical children, and suggest that reduced perceptual updating may constitute a high-level, and possibly face-selective, visual processing difference in children with autism.
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25. Finestack LH, Sterling AM, Abbeduto L. {{Discriminating Down Syndrome and Fragile X Syndrome based on language ability}}. {Journal of child language}. 2013 Jan;40(1):244-65.
ABSTRACT This study compared the receptive and expressive language profiles of verbally expressive children and adolescents with Down Syndrome (DS) and those with Fragile X syndrome (FXS) and examined the extent to which these profiles reliably differentiate the diagnostic groups. A total of twenty-four verbal participants with DS (mean age: 12 years), twenty-two verbal participants with FXS (mean age: 12 years), and twenty-seven participants with typical development (TD; mean age = 4 years) completed standardized measures of receptive and expressive vocabulary and grammar, as well as a conversational language sample. Study results indicate that there are distinct DS and FXS language profiles, which are characterized by differences in grammatical ability. The diagnostic groups were not differentiated based on vocabulary performance. This study supports the existence of unique language profiles associated with DS and FXS.
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26. Gal E, Ben Meir A, Katz N. {{Development and Reliability of the Autism Work Skills Questionnaire (AWSQ)}}. {Am J Occup Ther}. 2013 Jan;67(1):e1-5.
OBJECTIVE. The Autism Work Skills Questionnaire (AWSQ), a new, comprehensive self-report assessment of a person’s vocational profile, was developed to help produce a good person-job match. This preliminary study was aimed at developing the questionnaire and determining its content validity and internal consistency. METHOD. Forty-six adults with high-functioning autism spectrum disorder (HFASD), ages 18-39, were interviewed with the questionnaire. A two-phase study was conducted: (1) constructing the questionnaire and determining its content validity and (2) ascertaining internal consistency reliability. RESULTS. We found that the AWSQ had initial content validity and moderate to high internal consistency reliability (Cronbach’s alpha = .64-.90). CONCLUSION. The AWSQ can be a useful clinical and research tool in occupational therapy for evaluating work skills of adults with HFASD. Further studies with larger samples and including both typically developing individuals and individuals with HFASD are required to further support the questionnaire’s reliability and validity.
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27. Gallese V, Rochat MJ, Berchio C. {{The mirror mechanism and its potential role in autism spectrum disorder}}. {Dev Med Child Neurol}. 2013 Jan;55(1):15-22.
The mirror mechanism allows the direct translation of a perceived (seen, felt, heard) action into the same motor representation of its related goal. This mechanism allows a direct comprehension of others’ goals and motor intentions, enabling an embodied link between individuals. Because the mirror mechanism is a functional expression of the motor system, these findings suggest the relevance of the motor system to social cognition. It has been hypothesized that the impaired understanding of others’ intentions, sensations, and emotions reported in autism spectrum disorder (ASD) could be linked to an alteration of the mirror mechanism in all of these domains. In this review, we address the theoretical issues underlying the social impairments in ASD and discuss them in relation to the cognitive role of the mirror mechanism.
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28. Good P. {{Does infectious fever relieve autistic behavior by releasing glutamine from skeletal muscles as provisional fuel?}}. {Medical hypotheses}. 2013 Jan;80(1):1-12.
First reported formally in 1980, the frequent ability of infectious fever to relieve autistic behavior, often dramatically (and rarely aggravate), has long tantalized parents, practitioners, and researchers – yet its physiology and biochemistry have never been investigated, to judge from the literature. Fever is a complex interplay of immune, metabolic, and stress responses, yet its benefit in autistic disorders (ASD) may derive largely from a single response – release of the amino acid glutamine from skeletal muscles as provisional fuel. This proposal is based on evidence of low blood and brain glutamine in ASD children and adults, notable lack of autistic behavior in children with high brain glutamine from urea cycle disorders, and other events that elicit dramatic improvements – fasting, panic, pain, and the corticosteroid prednisone – that release or synthesize glutamine. Glutamine released from muscles is metabolized by the intestines like ingested glutamine. If glutamine released by fever rarely aggravates autistic behavior, why would supplemental glutamine?
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29. Hadjixenofontos A, Schmidt MA, Whitehead PL, Konidari I, Hedges DJ, Wright HH, Abramson RK, Menon R, Williams SM, Cuccaro ML, Haines JL, Gilbert JR, Pericak-Vance MA, Martin ER, McCauley JL. {{Evaluating mitochondrial DNA variation in autism spectrum disorders}}. {Annals of human genetics}. 2013 Jan;77(1):9-21.
Despite the increasing speculation that oxidative stress and abnormal energy metabolism may play a role in Autism Spectrum Disorders (ASD), and the observation that patients with mitochondrial defects have symptoms consistent with ASD, there are no comprehensive published studies examining the role of mitochondrial variation in autism. Therefore, we have sought to comprehensively examine the role of mitochondrial DNA (mtDNA) variation with regard to ASD risk, employing a multi-phase approach. In phase 1 of our experiment, we examined 132 mtDNA single-nucleotide polymorphisms (SNPs) genotyped as part of our genome-wide association studies of ASD. In phase 2 we genotyped the major European mitochondrial haplogroup-defining variants within an expanded set of autism probands and controls. Finally in phase 3, we resequenced the entire mtDNA in a subset of our Caucasian samples ( approximately 400 proband-father pairs). In each phase we tested whether mitochondrial variation showed evidence of association to ASD. Despite a thorough interrogation of mtDNA variation, we found no evidence to suggest a major role for mtDNA variation in ASD susceptibility. Accordingly, while there may be attractive biological hints suggesting the role of mitochondria in ASD our data indicate that mtDNA variation is not a major contributing factor to the development of ASD.
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30. Hamilton AF. {{Reflecting on the mirror neuron system in autism: A systematic review of current theories}}. {Developmental cognitive neuroscience}. 2013 Jan;3:91-105.
There is much interest in the claim that dysfunction of the mirror neuron system in individuals with autism spectrum condition causes difficulties in social interaction and communication. This paper systematically reviews all published studies using neuroscience methods (EEG/MEG/TMS/eyetracking/EMG/fMRI) to examine the integrity of the mirror system in autism. 25 suitable papers are reviewed. The review shows that current data are very mixed and that studies using weakly localised measures of the integrity of the mirror system are hard to interpret. The only well localised measure of mirror system function is fMRI. In fMRI studies, those using emotional stimuli have reported group differences, but studies using non-emotional hand action stimuli do not. Overall, there is little evidence for a global dysfunction of the mirror system in autism. Current data can be better understood under an alternative model in which social top-down response modulation is abnormal in autism. The implications of this model and future research directions are discussed.
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31. Harrington JW, Bai R, Perkins AM. {{Screening Children for Autism in an Urban Clinic Using an Electronic M-CHAT}}. {Clinical pediatrics}. 2013 Jan;52(1):35-41.
Background. The Modified Checklist for Autism in Toddlers (M-CHAT) is a screening tool for autism spectrum disorders in the clinic. However, the follow-up questions in the M-CHAT are difficult to implement on a paper format. Objective. To compare the effectiveness of the M-CHAT on an electronic format versus paper format in an outpatient clinic setting. Methods. A prospective study used electronic M-CHAT on the iPad. A retrospective review of paper M-CHATs 6 months prior to implementation was used as the comparison group. Results. A total of 176 participants completed the electronic M-CHAT format and 197 paper M-CHATs were retrospectively reviewed. The electronic format (3%) resulted in a significant difference in the frequency of children found to be at risk for autism compared with the paper version (11%); 99% of parents rated the experience as « good » or « excellent. » Conclusion. The electronic format lowered both false at-risk screens and false not-at-risk screens and had higher parental satisfaction.
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32. 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}}. {Medical hypotheses}. 2012 Dec 27.
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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33. Heil KM, Schaaf CP. {{The genetics of autism spectrum disorders – a guide for clinicians}}. {Current psychiatry reports}. 2013 Jan;15(1):334.
Recent advances in genetic testing technology have made chromosome microarray analysis (CMA) a first-tier clinical diagnostic test for Autism Spectrum Disorders (ASDs). Two main types of microarrays are available, single nucleotide polymorphism (SNP) arrays and array comparative genomic hybridization (aCGH), each with its own advantages and disadvantages in ASDs testing. Rare genetic variants, and copy number variants (CNVs) in particular, have been shown to play a major role in ASDs. More than 200 autism susceptibility genes have been identified to date, and complex patterns of inheritance, such as oligogenic heterozygosity, appear to contribute to the etiopathogenesis of ASDs. Incomplete penetrance and variable expressivity represent particular challenges in the interpretation of CMA testing of autistic individuals. This review aims to provide an overview of autism genetics for the practicing physician and gives hands-on advice on how to follow-up on abnormal CMA findings in individuals with neuropsychiatric disorders.
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34. Hinton R, Budimirovic DB, Marschik PB, Talisa VB, Einspieler C, Gipson T, Johnston MV. {{Parental reports on early language and motor milestones in fragile X syndrome with and without autism spectrum disorders}}. {Developmental neurorehabilitation}. 2013;16(1):58-66.
Objective: This study examined features of early language and motor milestones in children with fragile X syndrome (FXS) and contrasted these features with a diagnosis of Autism Spectrum Disorder (ASD) later in life in these children. Methods: We retrospectively examined parental report of age of onset for walking and first words for primarily boys with FXS, both with ASD (FXS + ASD) and FXS-only. The diagnosis of ASD was established by DSM-IV criteria, which were complemented by the ADOS. The age of onset was analyzed as a continuous and categorical variable, which were compared to the upper limit of typically developing children. Results: Individuals with FXS-only are more delayed in the onset of first words than first walks. The finding represents a pattern suggesting a continuum as robustly demonstrated in individuals with FXS + ASD vs. FXS-only. Conclusion: Our results support validity of FXS + ASD co-morbidity as a distinct phenotype in individuals with FXS.
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35. Hoffmann W, Konig U, Heinzel-Gutenbrunner M, Mattejat F, Becker K, Kamp-Becker I. {{Early identification of Asperger syndrome in young children}}. {Research in developmental disabilities}. 2013 Jan;34(1):640-9.
This study was designed to identify items of the ADI-R that allow an early and sensitive identification of children with possible Asperger syndrome (AS). The aim was to obtain an economic short interview suitable for screening purposes. The study was based on data from a clinical sample of 5-18-year-old children and adolescents (mean age 10.9years) with either Attention-Deficit Hyperactivity Disorder (ADHD; n=43) or AS (n=62). The introductory questions and 36 items, which contribute to the diagnostic algorithm of the ADI-R, were subjected to content analysis and stepwise discriminant function analysis. Eight meaningful items were found, which were shown to be good predictors of AS and to discriminate between the children with AS and those with ADHD. The short interview was especially useful for the assessment and screening of children up to 11years in our sample, because in this subgroup, sensitivity was even higher (.92) and specificity was also excellent (.90). Eight items with high discriminatory power allowed sensitive and economic screening for young children with suspected AS.
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36. Holt JM, Christensen KM. {{Utahns’ understanding of autism spectrum disorder}}. {Disability and health journal}. 2013 Jan;6(1):52-62.
BACKGROUND: The general public has numerous misconceptions and a lack of awareness and understanding regarding some of the prevalence, characteristics, and treatments of autism. As a result, education and awareness activities to increase the general public’s understanding and awareness of autism are important. This study was conducted throughout Utah to inform public education and awareness efforts being planned as part of Utah’s State Plan for Improving Outcomes for Individuals with Autism Spectrum Disorders and Development Disorders. OBJECTIVE: The purpose of this study was to identify public awareness and knowledge of ASD in Utah, such as the public’s understanding of the prevalence, characteristics, and treatments of autism, as well as the sources of this information. METHODS: To identify public perceptions and attitudes of autism spectrum disorder, 1001 Utah residents 18 years of age or older were surveyed using a 32-question statewide random-digit dialed telephone survey. RESULTS: The percentages of responses for 15 of the 20 autism-related questions are presented by ethnicity (Hispanic or Latino), education level, and income level. CONCLUSIONS: The study indicates that autism education efforts need to address the least understood aspects of autism; the causes of autism, how autism is diagnosed, and how autism is treated. Radio or TV outlets are more effective, particularly so with Hispanic or Latinos and populations with less education. Medical professionals are also an important resource for families with direct autism-related needs.
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37. Hsiao MN, Tseng WL, Huang HY, Gau SS. {{Effects of autistic traits on social and school adjustment in children and adolescents: The moderating roles of age and gender}}. {Research in developmental disabilities}. 2013 Jan;34(1):254-65.
This study examined the associations between children’s and adolescents’ autistic-like social deficits and school and social adjustment as well as the moderating roles of age and gender in these associations. The sample consisted of 1321 students (48.7% boys) in Grade 1 to Grade 8 from northern Taiwan. Children’s and adolescents’ autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS), and their school and social adjustment (i.e., academic performance, negative attitudes toward schoolwork/teachers/classmates, behavioral problems at schools, negative peer relationships, and problems with peers) were assessed using the Social Adjustment Inventory for Children and Adolescents (SAICA). Both measures were completed by the mothers of the participants. Results from the linear mixed models demonstrated that autistic-like social deficits were associated with poor academic performance, negative attitudes toward schoolwork, teachers, and classmates, behavioral problems at schools, negative peer relationships, and problematic peer interactions. Moreover, gender and/or age moderated the associations between autistic-like social deficits and school and social adjustment problems. For example, autistic-like social deficits were more strongly related to negative school attitude, school social problems, and negative peer relationships in boys than in girls. Further, autistic-like social deficits were more strongly related to problems with peers in older girls than in older boys or younger children (regardless of gender). In conclusion, the present study suggests that autistic-like social deficits may place children and adolescents at increased risk for social and school maladjustment and that the extent of maladjustment may vary with the child’s age and gender and the domains of adjustment under discussion.
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38. Hwang YS, Kearney P. {{A systematic review of mindfulness intervention for individuals with developmental disabilities: Long-term practice and long lasting effects}}. {Research in developmental disabilities}. 2013 Jan;34(1):314-26.
Can individuals with developmental disabilities learn mindfulness? If so, with what result? A systematic literature review identified 12 studies that taught mindfulness practice to individuals with mild to severe developmental disabilities, demonstrating that mindfulness intervention could significantly reduce the behavioural and/or psychological problems of this population. The majority of these mindfulness intervention studies were longitudinal, featuring long intervention periods and long lasting intervention effects. This paper analyses the characteristics and objectives of mindfulness interventions, along with their effects, focusing on the adjustments made to intervention content and instruction strategies to meet the specific requirements of individuals with developmental disabilities. The potential for improving mindfulness interventions for people with developmental disabilities is also discussed.
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39. Iourov IY, Vorsanova SG, Kurinnaia OS, Zelenova MA, Silvanovich AP, Yurov YB. {{Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies}}. {Molecular cytogenetics}. 2012 Dec 31;5(1):46.
ABSTRACT: BACKGROUND: Array comparative genomic hybridization (CGH) has been repeatedly shown to be a successful tool for the identification of genomic variations in a clinical population. During the last decade, the implementation of array CGH has resulted in the identification of new causative submicroscopic chromosome imbalances and copy number variations (CNVs) in neuropsychiatric (neurobehavioral) diseases. Currently, array-CGH-based technologies have become an integral part of molecular diagnosis and research in individuals with neuropsychiatric disorders and children with intellectual disability (mental retardation) and congenital anomalies. Here, we introduce the Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies analyzed by BAC array CGH and a novel bioinformatic strategy. RESULTS: Among 54 individuals highly selected according to clinical criteria and molecular and cytogenetic data (from 2426 patients evaluated cytogenetically and molecularly between November 2007 and May 2012), chromosomal imbalances were detected in 26 individuals (48%). In two patients (4%), a previously undescribed condition was observed. The latter has been designated as meiotic (constitutional) genomic instability resulted in multiple submicroscopic rearrangements (including CNVs). Using bioinformatic strategy, we were able to identify clinically relevant CNVs in 15 individuals (28%). Selected cases were confirmed by molecular cytogenetic and molecular genetic methods. Eight out of 26 chromosomal imbalances (31%) have not been previously reported. Among them, three cases were co-occurrence of subtle chromosome 9 and 21 deletions. CONCLUSIONS: We conducted an array CGH study of Russian patients suffering from intellectual disability, autism, epilepsy and congenital anomalies. In total, phenotypic manifestations of clinically relevant genomic variations were found to result from genomic rearrangements affecting 1247 disease-causing and pathway-involved genes. Obviously, a significantly lesser part of them are true candidates for intellectual disability, autism or epilepsy. The success of our preliminary array CGH and bioinformatic study allows us to expand the cohort. According to the available literature, this is the first comprehensive array CGH evaluation of a Russian cohort of children with neuropsychiatric disorders and congenital anomalies.
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40. Jung NH, Janzarik WG, Delvendahl I, Munchau A, Biscaldi M, Mainberger F, Baumer T, Rauh R, Mall V. {{Impaired induction of long-term potentiation-like plasticity in patients with high-functioning autism and Asperger syndrome}}. {Dev Med Child Neurol}. 2013 Jan;55(1):83-9.
Aim We aimed to investigate the induction of long-term potentiation (LTP)-like plasticity by paired associative stimulation (PAS) in patients with high-functioning autism and Asperger syndrome (HFA/AS). Method PAS with an interstimulus interval between electrical and transcranial magnetic stimulation of 25 ms (PAS(25) ) was performed in patients with HFA/AS (n=9; eight males, one female; mean age 17y 11mo, SD 4y 5mo) and in typically developing age-matched volunteers (n=9; five males, four females; mean age 22y 4mo, SD 5y 2mo). The amplitude of motor-evoked potentials was measured before PAS(25) , immediately after stimulation, and 30 minutes and 60 minutes later. A PAS protocol adapted to individual N20 latency (PAS(N20+2) ) was performed in six additional patients with HFA/AS. Short-interval intracortical inhibition was measured using paired-pulse stimulation. Results In contrast to the typically developing participants, the patients with HFA/AS did not show a significant increase in motor-evoked potentials after PAS(25) . This finding could also be demonstrated after adaptation for N20 latency. Short-interval intracortical inhibition of patients with HFA/AS was normal compared with the comparison group and did not correlate with PAS effect. Interpretation Our results show a significant impairment of LTP-like plasticity induced by PAS in individuals with HFA/AS compared with typically developing participants. This finding is in accordance with results from animal studies as well as human studies. Impaired LTP-like plasticity in patients with HFA/AS points towards reduced excitatory synaptic connectivity and deficits in sensory-motor integration in these patients.
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41. Kagohara DM, van der Meer L, Ramdoss S, O’Reilly MF, Lancioni GE, Davis TN, Rispoli M, Lang R, Marschik PB, Sutherland D, Green VA, Sigafoos J. {{Using iPods((R)) and iPads((R)) in teaching programs for individuals with developmental disabilities: A systematic review}}. {Research in developmental disabilities}. 2013 Jan;34(1):147-56.
We conducted a systematic review of studies that involved iPods((R)), iPads((R)), and related devices (e.g., iPhones((R))) in teaching programs for individuals with developmental disabilities. The search yielded 15 studies covering five domains: (a) academic, (b) communication, (c) employment, (d) leisure, and (e) transitioning across school settings. The 15 studies reported outcomes for 47 participants, who ranged from 4 to 27years of age and had a diagnosis of autism spectrum disorder (ASD) and/or intellectual disability. Most studies involved the use of iPods((R)) or iPads((R)) and aimed to either (a) deliver instructional prompts via the iPod Touch((R)) or iPad((R)), or (b) teach the person to operate an iPod Touch((R)) or iPad((R)) to access preferred stimuli. The latter also included operating an iPod Touch((R)) or an iPad((R)) as a speech-generating device (SGD) to request preferred stimuli. The results of these 15 studies were largely positive, suggesting that iPods((R)), iPod Touch((R)), iPads((R)), and related devices are viable technological aids for individuals with developmental disabilities.
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42. Kandalaft MR, Didehbani N, Krawczyk DC, Allen TT, Chapman SB. {{Virtual reality social cognition training for young adults with high-functioning autism}}. {J Autism Dev Disord}. 2013 Jan;43(1):34-44.
Few evidence-based social interventions exist for young adults with high-functioning autism, many of whom encounter significant challenges during the transition into adulthood. The current study investigated the feasibility of an engaging Virtual Reality Social Cognition Training intervention focused on enhancing social skills, social cognition, and social functioning. Eight young adults diagnosed with high-functioning autism completed 10 sessions across 5 weeks. Significant increases on social cognitive measures of theory of mind and emotion recognition, as well as in real life social and occupational functioning were found post-training. These findings suggest that the virtual reality platform is a promising tool for improving social skills, cognition, and functioning in autism.
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43. Kang JQ, Barnes G. {{A Common Susceptibility Factor of Both Autism and Epilepsy: Functional Deficiency of GABA(A) Receptors}}. {J Autism Dev Disord}. 2013 Jan;43(1):68-79.
Autism and epilepsy are common childhood neurological disorders with a great heterogeneity of clinical phenotypes as well as risk factors. There is a high co-morbidity of autism and epilepsy. The neuropathology of autism and epilepsy has similar histology implicating the processes of neurogenesis, neural migration, programmed cell death, and neurite outgrowth. Genetic advances have identified multiple molecules that participate in neural development, brain network connectivity, and synaptic function which are involved in the pathogenesis of autism and epilepsy. Mutations in GABA(A) receptor subunit have been frequently associated with epilepsy, autism, and other neuropsychiatric disorders. In this paper, we address the hypothesis that functional deficiency of GABAergic signaling is a potential common molecular mechanism underpinning the co-morbidity of autism and epilepsy.
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44. Kelly A, Barnes-Holmes D. {{Implicit attitudes towards children with autism versus normally developing children as predictors of professional burnout and psychopathology}}. {Research in developmental disabilities}. 2013 Jan;34(1):17-28.
Tutors trained in applied behaviour analysis (n=16) and mainstream school teachers (n=16) were exposed to an Implicit Relational Assessment Procedure (IRAP) designed to assess implicit attitudes towards individuals with autism versus normally developing individuals. Participants also completed a range of explicit measures, including measures of professional burnout and psychopathology. All participants produced more negative biases towards children with autism compared to children who were normally developing. Increased negativity towards autism on the IRAP predicted similar attitudes on some of the explicit measures and also correlated with increased levels of self-reported psychopathology and professional burnout for the tutors working with children with autism. Results suggest that implicit measures of attitudes may provide a marker for professional burnout.
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45. Kelly DJ, Walker R, Norbury CF. {{Deficits in volitional oculomotor control align with language status in autism spectrum disorders}}. {Dev Sci}. 2013 Jan;16(1):56-66.
Eye-tracking paradigms are increasingly used to investigate higher-level social and cognitive processing in autism spectrum disorder (ASD). However, the integrity of the oculomotor system within ASD is unclear, with contradictory reports of aberrant eye-movements on basic oculomotor tasks. The purpose of the current study was to determine whether reducing population heterogeneity and distinguishing neurocognitive phenotypes can clarify discrepancies in oculomotor behaviour evident in previous reports. Reflexive and volitional eye-movement control was assessed in 73 children aged 8-14 years from four distinct groups: Autism Language Normal (ALN), Autism Language Impaired (ALI), non-autistic Language Impaired (LI) and Typically Developing (TD). Eye-movement control was measured using pro- and antisaccade tasks and a novel ‘search distracter’ task to measure distractibility. Reflexive eye-movements were equivalent across groups, but deficits in volitional eye-movement control were found that aligned with language status, and were not specific to ASD. More than 80% of ALI and LI children presented error rates at least 1.5 SDs below the TD mean in an antisaccade task. In the search distracter task, 35.29% of ALI children and 43.75% of LI children had error rates greater than 1.5 SDs compared with 17.64% of ALN children. A significant proportion of children with neurodevelopmental disorders involving language function have pronounced difficulties suppressing reflexive saccades and maintaining fixations in the presence of competing stimuli. We extend the putative link between ALI and LI populations to non-language tasks, and highlight the need to account for co-morbidity in understanding the ontogenesis of ASD.
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46. Lau WY, Gau SS, Chiu YN, Wu YY, Chou WJ, Liu SK, Chou MC. {{Psychometric properties of the Chinese version of the Autism Spectrum Quotient (AQ)}}. {Research in developmental disabilities}. 2013 Jan;34(1):294-305.
The Autism Spectrum Quotient (AQ) has been widely used for measuring autistic characteristics in parents of children with autism spectrum disorders (ASD). Nonetheless, its psychometric validity is yet to be justified. This study tested the factor structure of the AQ by means of principal component analysis and confirmatory factor analysis using, for the first time, data from 4192 Taiwanese parents (1208 with ASD children and 2984 with typically developing children). Results yielded a 35-item, 5-dimensional factor solution that had favorable psychometric characteristics (RMSEA=.054; NNFI=.962; CFI=.969) than any of the previously-published AQ factor solutions. Subscales of this new AQ-Chinese model were statistically and semantically coherent, namely: Socialness, Mindreading, Patterns, Attention to Details and Attention Switching. The psychometric properties of the AQ-Chinese did not change between clinic-based and community-based data suggesting good fitting for a continuum of autistic expression. Furthermore, the considerable overlap between the AQ-Chinese and the AQ factor structures derived previously using student samples indicated consistency in the manifestation of the autistic profile across different cultures and age groups. Group differences in the AQ-Chinese scores were in line with previous studies, i.e. males generally scored radically higher than females except in Attention to Details. Interestingly, mothers of ASD children reported lower total AQ scores than community mothers yet no significant group difference for the fathers. Important research and clinical implications pertinent to parents with children with ASD and the utility of the AQ were drawn.
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47. Lawson W. {{Sensory connection, interest/attention and gamma synchrony in autism or autism, brain connections and preoccupation}}. {Medical hypotheses}. 2012 Dec 27.
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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48. Lerner MD, McPartland JC, Morris JP. {{Multimodal emotion processing in autism spectrum disorders: An event-related potential study}}. {Developmental cognitive neuroscience}. 2013 Jan;3:11-21.
This study sought to describe heterogeneity in emotion processing in autism spectrum disorders (ASD) via electrophysiological markers of perceptual and cognitive processes that underpin emotion recognition across perceptual modalities. Behavioral and neural indicators of emotion processing were collected, as event-related potentials (ERPs) were recorded while youth with ASD completed a standardized facial and vocal emotion identification task. Children with ASD exhibited impaired emotion recognition performance for adult faces and child voices, with a subgroup displaying intact recognition. Latencies of early perceptual ERP components, marking social information processing speed, and amplitudes of subsequent components reflecting emotion evaluation, each correlated across modalities. Social information processing speed correlated with emotion recognition performance, and predicted membership in a subgroup with intact adult vocal emotion recognition. Results indicate that the essential multimodality of emotion recognition in individuals with ASDs may derive from early social information processing speed, despite heterogeneous behavioral performance; this process represents a novel social-emotional intervention target for ASD.
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49. Li JP, Law T, Lam GY, To CK. {{Role of sentence-final particles and prosody in irony comprehension in Cantonese-speaking children with and without Autism Spectrum Disorders}}. {Clinical linguistics & phonetics}. 2013 Jan;27(1):18-32.
English-speaking children with Autism Spectrum Disorders (ASD) are less capable of using prosodic cues such as intonation for irony comprehension. Prosodic cues, in particular intonation, in Cantonese are relatively restricted while sentence-final particles (SFPs) may be used for this pragmatic function. This study investigated the use of prosodic cues and SFPs in irony comprehension in Cantonese-speaking children with and without ASD. Thirteen children with ASD (8;3-12;9) were language-matched with 13 typically developing (TD) peers. By manipulating prosodic cues and SFPs, 16 stories with an ironic remark were constructed. Participants had to judge the speaker’s belief and intention. Both groups performed similarly well in judging the speaker’s belief. For the speaker’s intention, the TD group relied more on SFPs. The ASD group performed significantly poorer and did not rely on either cue. SFPs may play a salient role in Cantonese irony comprehension. The differences between the two groups were discussed by considering the literature on theory of mind.
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50. Lokanga RA, Entezam A, Kumari D, Yudkin D, Qin M, Smith CB, Usdin K. {{Somatic expansion in mouse and human carriers of fragile x premutation alleles}}. {Human mutation}. 2013 Jan;34(1):157-66.
Repeat expansion diseases result from expansion of a specific tandem repeat. The three fragile X-related disorders (FXDs) arise from germline expansions of a CGG*CCG repeat tract in the 5′ UTR (untranslated region) of the fragile X mental retardation 1 (FMR1) gene. We show here that in addition to germline expansion, expansion also occurs in the somatic cells of both mice and humans carriers of premutation alleles. Expansion in mice primarily affects brain, testis, and liver with very little expansion in heart or blood. Our data would be consistent with a simple two-factor model for the organ specificity. Somatic expansion in humans may contribute to the mosaicism often seen in individuals with one of the FXDs. Because expansion risk and disease severity are related to repeat number, somatic expansion may exacerbate disease severity and contribute to the age-related increased risk of expansion seen on paternal transmission in humans. As little somatic expansion occurs in murine lymphocytes, our data also raise the possibility that there may be discordance in humans between repeat numbers measured in blood and that present in brain. This could explain, at least in part, the variable penetrance seen in some of these disorders.
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51. Loomis EW, Eid JS, Peluso P, Yin J, Hickey L, Rank D, McCalmon S, Hagerman RJ, Tassone F, Hagerman PJ. {{Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene}}. {Genome research}. 2013 Jan;23(1):121-8.
The human fragile X mental retardation 1 (FMR1) gene contains a (CGG)(n) trinucleotide repeat in its 5′ untranslated region (5’UTR). Expansions of this repeat result in a number of clinical disorders with distinct molecular pathologies, including fragile X syndrome (FXS; full mutation range, greater than 200 CGG repeats) and fragile X-associated tremor/ataxia syndrome (FXTAS; premutation range, 55-200 repeats). Study of these diseases has been limited by an inability to sequence expanded CGG repeats, particularly in the full mutation range, with existing DNA sequencing technologies. Single-molecule, real-time (SMRT) sequencing provides an approach to sequencing that is fundamentally different from other « next-generation » sequencing platforms, and is well suited for long, repetitive DNA sequences. We report the first sequence data for expanded CGG-repeat FMR1 alleles in the full mutation range that reveal the confounding effects of CGG-repeat tracts on both cloning and PCR. A unique feature of SMRT sequencing is its ability to yield real-time information on the rates of nucleoside addition by the tethered DNA polymerase; for the CGG-repeat alleles, we find a strand-specific effect of CGG-repeat DNA on the interpulse distance. This kinetic signature reveals a novel aspect of the repeat element; namely, that the particular G bias within the CGG/CCG-repeat element influences polymerase activity in a manner that extends beyond simple nearest-neighbor effects. These observations provide a baseline for future kinetic studies of repeat elements, as well as for studies of epigenetic and other chemical modifications thereof.
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52. Maenner MJ, Smith LE, Hong J, Makuch R, Greenberg JS, Mailick MR. {{Evaluation of an activities of daily living scale for adolescents and adults with developmental disabilities}}. {Disability and health journal}. 2013 Jan;6(1):8-17.
BACKGROUND: Activity limitations are an important and useful dimension of disability, but there are few validated measures of activity limitations for adolescents and adults with developmental disabilities. OBJECTIVE/HYPOTHESIS: To describe the development of the Waisman Activities of Daily Living (W-ADL) Scale for adolescents and adults with developmental disabilities, and systematically evaluate its measurement properties according to an established set of criteria. METHODS: The W-ADL was administered among four longitudinally studied groups of adolescents and adults with developmental disabilities: 406 with autism; 147 with fragile-X syndrome; 169 with Down syndrome; and 292 with intellectual disability of other or unknown origin. The W-ADL contains 17 activities and each is rated on a 3-point scale (0 = « does not do at all », 1 = « does with help », 2 = « independent »), and a standard set of criteria were used to evaluate its measurement properties. RESULTS: Across the disability groups, Cronbach’s alphas ranged from 0.88 to 0.94, and a single-factor structure was most parsimonious. The W-ADL was reliable over time, with weighted kappas between 0.92 and 0.93. Criterion and construct validity were supported through substantial associations with the Vineland Screener, need for respite services, caregiving burden, and competitive employment. No floor or ceiling effects were present. There were significant group differences in W-ADL scores by maternally reported level of intellectual disability (mild, moderate, severe, profound). CONCLUSIONS: The W-ADL exceeded the recommended threshold for each quality criterion the authors evaluated. This freely available tool is an efficient measure of activities of daily living for surveys and epidemiological research concerning adolescents and adults with developmental disabilities.
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53. Mao R, Bayrak-Toydemir P, Lyon E. {{Capillary electrophoresis for the detection of Fragile X expanded alleles}}. {Methods in molecular biology (Clifton, NJ)}. 2013;919:275-85.
Capillary electrophoresis is an analytical technique that separates ions based on their electrophoresis mobility with the use of an applied voltage. Capillary electrophoresis is used most predominantly in nuclear acid fragment analysis as well as DNA sequencing because it gives faster results and provides high resolution separation. Here we describe an application using capillary electrophoreses for screening the Fragile X expanded alleles to demonstrate the application.
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54. Matson JL, Dempsey T, Lovullo SV, Fodstad JC, Knight C, Sevin JA, Sharp B. {{The moderating effects of intellectual development on core symptoms of autism and PDD-NOS in toddlers and infants}}. {Research in developmental disabilities}. 2013 Jan;34(1):573-8.
Little research has been conducted on whether deficits in developmental functioning affect the range of core symptoms for autism spectrum disorders (ASD). This study represents a first attempt to determine whether developmental level has an effect on the expression of ASD symptoms in infants and toddlers. Eight hundred and fifty-three infants were evaluated with respect to the nature and extent of their ASD symptoms and developmental functioning. Young children with autism displayed a higher number of symptoms than those with PDD-NOS on all three domains of impairment (social, communication, repetitive behaviors). As expected, children without an ASD evinced far fewer symptoms than both these groups. Developmental level was not found to be a moderator for expression of ASD symptoms for the entire sample, or individual diagnostic groups. Higher developmental level was associated with lower severity of evinced ASD symptoms in the sample.
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55. McDougle CJ, Carlezon WA, Jr. {{Neuroinflammation and autism: toward mechanisms and treatments}}. {Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology}. 2013 Jan;38(1):241-2.
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56. McMorris CA, Brown SM, Bebko JM. {{An Examination of Iconic Memory in Children with Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2012 Dec 29.
Iconic memory is the ability to accurately recall a number of items after a very brief visual exposure. Previous research has examined these capabilities in typically developing (TD) children and individuals with intellectual disabilities (ID); however, there is limited research on these abilities in children with Autism Spectrum Disorders (ASD). Twenty-one TD and eighteen ASD children were presented with circular visual arrays of letters for 100 ms and were asked to recall as many letters as possible or a single letter that was cued for recall. Groups did not differ in the number of items recalled, the rate of information decay, or speed of information processing. These findings suggest that iconic memory is an intact skill for children with ASD, a result that has implications for subsequent information processing.
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57. McNally Keehn RH, Lincoln AJ, Brown MZ, Chavira DA. {{The coping cat program for children with anxiety and autism spectrum disorder: a pilot randomized controlled trial}}. {J Autism Dev Disord}. 2013 Jan;43(1):57-67.
The purpose of this pilot study was to evaluate whether a modified version of the Coping Cat program could be effective in reducing anxiety in children with autism spectrum disorder (ASD). Twenty-two children (ages 8-14; IQ >/= 70) with ASD and clinically significant anxiety were randomly assigned to 16 sessions of the Coping Cat program (cognitive-behavioral therapy; CBT) or a 16-week waitlist. Children in the CBT condition evidenced significantly larger reductions in anxiety than those in the waitlist. Treatment gains were largely maintained at two-month follow-up. Results provide preliminary evidence that a modified version of the Coping Cat program may be a feasible and effective program for reducing clinically significant levels of anxiety in children with high-functioning ASD.
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58. Miller JS, Bilder D, Farley M, Coon H, Pinborough-Zimmerman J, Jenson W, Rice CE, Fombonne E, Pingree CB, Ritvo E, Ritvo RA, McMahon WM. {{Autism Spectrum Disorder Reclassified: A Second Look at the 1980s Utah/UCLA Autism Epidemiologic Study}}. {J Autism Dev Disord}. 2013 Jan;43(1):200-10.
The purpose of the present study was to re-examine diagnostic data from a state-wide autism prevalence study (n = 489) conducted in the 1980s to investigate the impact of broader diagnostic criteria on autism spectrum disorder (ASD) case status. Sixty-four (59 %) of the 108 originally « Diagnosed Not Autistic » met the current ASD case definition. The average IQ estimate in the newly identified group (IQ = 35.58; SD = 23.01) was significantly lower than in the original group (IQ = 56.19 SD = 21.21; t = 5.75; p < .0001). Today’s diagnostic criteria applied to participants ascertained in the 1980s identified more cases of autism with intellectual disability. The current analysis puts this historic work into context and highlights differences in ascertainment between epidemiological studies performed decades ago and those of today.
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59. Mitterauer BJ. {{Astrocyte mega-domain hypothesis of the autistic savantism}}. {Medical hypotheses}. 2013 Jan;80(1):17-22.
Individuals with autism who show high abilities are called savants. Whereas in their brains a disconnection in and between neural networks has been identified, savantism is yet poorly understood. Focusing on astrocyte domain organization, it is hypothesized that local astrocyte mega-organizations may be responsible for exerting high capabilities in brains of autistic savants. Astrocytes, the dominant glial cell type, modulate synaptic information transmission. Each astrocyte is organized in non-overlapping domains. Formally, each astrocyte contacting n-neurons with m-synapses via its processes generates dynamic domains of synaptic interactions based on qualitative computation criteria, and hereby it structures neuronal information processing. If the number of processes is genetically significantly increased, these astrocytes operate in a mega-domain with a higher complexitiy of computation. From this model savant abilities are deduced.
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60. Naber FB, Poslawsky IE, van Ijzendoorn MH, van Engeland H, Bakermans-Kranenburg MJ. {{Brief report: oxytocin enhances paternal sensitivity to a child with autism: a double-blind within-subject experiment with intranasally administered oxytocin}}. {J Autism Dev Disord}. 2013 Jan;43(1):224-9.
Oxytocin seems associated with parenting style, and experimental work showed positive effects of intranasally administered oxytocin on parenting style of fathers. Here, the first double-blind, placebo-controlled, within-subject experiment with intranasal oxytocin administration to fathers of children with autism spectrum disorder (ASD) is presented. Fathers with their typically developing toddler (n = 18), and fathers of toddlers diagnosed with ASD (n = 14), were observed in two play sessions of 15 min each with an intervening period of 1 week. In all fathers oxytocin elevated the quality of paternal sensitive play: fathers stimulated their child in a more optimal way, and they showed less hostility which suggests the positive effects of oxytocin on paternal sensitive play irrespective of clinical status of their child.
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61. Nicholl J, Waters W, Suwalski S, Brown S, Hull Y, Harbord MG, Entwistle J, Thompson S, Clark D, Pridmore C, Haan E, Barnett C, McGregor L, Liebelt J, Thompson EM, Friend K, Bain SM, Yu S, Mulley JC. {{Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH}}. {Am J Med Genet B Neuropsychiatr Genet}. 2013 Jan;162(1):24-35.
The clinical significance of chromosomal microdeletions and microduplications was predicted based on their gene content, de novo or familial inheritance and accumulated knowledge recorded on public databases. A patient group comprised of 247 cases with epilepsy and its common co-morbidities of developmental delay, intellectual disability, autism spectrum disorders, and congenital abnormalities was reviewed prospectively in a diagnostic setting using a standardized oligo-array CGH platform. Seventy-three (29.6%) had copy number variations (CNVs) and of these 73 cases, 27 (37.0%) had CNVs that were likely causative. These 27 cases comprised 10.9% of the 247 cases reviewed. The range of pathogenic CNVs associated with seizures was consistent with the existence of many genetic determinants for epilepsy. (c) 2012 Wiley Periodicals, Inc.
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62. Nosik MR, Williams WL, Garrido N, Lee S. {{Comparison of computer based instruction to behavior skills training for teaching staff implementation of discrete-trial instruction with an adult with autism}}. {Research in developmental disabilities}. 2013 Jan;34(1):461-8.
In the current study, behavior skills training (BST) is compared to a computer based training package for teaching discrete trial instruction to staff, teaching an adult with autism. The computer based training package consisted of instructions, video modeling and feedback. BST consisted of instructions, modeling, rehearsal and feedback. Following training, participants were evaluated in terms of their accuracy on completing critical skills for running a discrete trial program. Six participants completed training; three received behavior skills training and three received the computer based training. Participants in the BST group performed better overall after training and during six week probes than those in the computer based training group. There were differences across both groups between research assistant and natural environment competency levels.
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63. Ozgen H, Hellemann GS, de Jonge MV, Beemer FA, van Engeland H. {{Predictive Value of Morphological Features in Patients with Autism versus Normal Controls}}. {J Autism Dev Disord}. 2013 Jan;43(1):147-55.
We investigated the predictive power of morphological features in 224 autistic patients and 224 matched-pairs controls. To assess the relationship between the morphological features and autism, we used the receiver operator curves (ROC). In addition, we used recursive partitioning (RP) to determine a specific pattern of abnormalities that is characteristic for the difference between autistic children and typically developing controls. The present findings showed that morphological features are significantly increased in patients with autism. Using ROC and RP, some of the morphological measures also led to strong predictive accuracy. Facial asymmetry, multiple hair whorls and prominent forehead significantly differentiated patients with autism from controls. Future research on multivariable risk prediction models may benefit from the use of morphological features.
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64. Pani SC, Mubaraki SA, Ahmed YT, Alturki RY, Almahfouz SF. {{Parental perceptions of the oral health-related quality of life of autistic children in Saudi Arabia}}. {Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry}. 2013 Jan;33(1):8-12.
The aim of this study was to use parental perception to assess the Oral Health Related Quality of Life (OHRQoL) of children with Autism. A total of 59 families of children with Autism who had an unaffected sibling were cross-matched for age and gender of the affected child with families with no autistic children. The parents were administered the Parental Perception Questionnaire (P-CPQ) and the Family impact scale (FIS) components of and Arabic version of the Child Oral Health Related Quality of Life questionnaire (COHRQL). The P-CPQ scores of Children with Autism were compared with those of their unaffected siblings and those of children from families with no autistic child, while the FIS scores were compared between families with and without an autistic child. Regression models were constructed to show the association of sociodemographic factors on the OHRQoL of autistic children. The results of this study seem to suggest that childhood autism results in a reduced OHRQoL for both the affected child as well as the family. The apparent reduced parental concern with unaffected siblings of autistic children, when compared to parental concern towards children in families with no autistic child is an area that could merit further research.
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65. Plumb AM, Wetherby AM. {{Vocalization Development in Toddlers with Autism Spectrum Disorder}}. {Journal of speech, language, and hearing research : JSLHR}. 2012 Dec 28.
PURPOSE: To examine the vocalizations of children with autism spectrum disorder (ASD) in the second year of life and their relationship to other areas of development. METHOD: Vocalizations were examined in 125 children between 18 and 24 months of age: 50 later diagnosed with ASD; 25 with developmental delays (DD) in which ASD was ruled out; and 50 with typical development (TD). Precise measures of vocalizations were obtained through coding of video-recorded Behavior Samples from the Communication and Symbolic Behavior Scales Developmental Profile. RESULTS: The ASD group used a significantly lower proportion of vocalizations with speech sounds and a significantly higher proportion of atypical vocalizations than children with TD. The ASD group used a significantly higher proportion of distress vocalizations than the TD and DD groups. For the ASD group, the frequency of vocalizations with speech sounds correlated significantly with developmental levels both concurrently and predictively. In the ASD group, communicative vocalizations late in the second year were found to uniquely predict expressive language outcome at age 3 above noncommunicative vocalizations. CONCLUSIONS: Further examination of distress vocalizations as a potential early indicator of ASD is recommended. In addition, the importance of early communicative vocalizations for later language development is highlighted.
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66. Prasad A, Merico D, Thiruvahindrapuram B, Wei J, Lionel AC, Sato D, Rickaby J, Lu C, Szatmari P, Roberts W, Fernandez BA, Marshall CR, Hatchwell E, Eis PS, Scherer SW. {{A discovery resource of rare copy number variations in individuals with autism spectrum disorder}}. {G3 (Bethesda, Md)}. 2012 Dec;2(12):1665-85.
The identification of rare inherited and de novo copy number variations (CNVs) in human subjects has proven a productive approach to highlight risk genes for autism spectrum disorder (ASD). A variety of microarrays are available to detect CNVs, including single-nucleotide polymorphism (SNP) arrays and comparative genomic hybridization (CGH) arrays. Here, we examine a cohort of 696 unrelated ASD cases using a high-resolution one-million feature CGH microarray, the majority of which were previously genotyped with SNP arrays. Our objective was to discover new CNVs in ASD cases that were not detected by SNP microarray analysis and to delineate novel ASD risk loci via combined analysis of CGH and SNP array data sets on the ASD cohort and CGH data on an additional 1000 control samples. Of the 615 ASD cases analyzed on both SNP and CGH arrays, we found that 13,572 of 21,346 (64%) of the CNVs were exclusively detected by the CGH array. Several of the CGH-specific CNVs are rare in population frequency and impact previously reported ASD genes (e.g., NRXN1, GRM8, DPYD), as well as novel ASD candidate genes (e.g., CIB2, DAPP1, SAE1), and all were inherited except for a de novo CNV in the GPHN gene. A functional enrichment test of gene-sets in ASD cases over controls revealed nucleotide metabolism as a potential novel pathway involved in ASD, which includes several candidate genes for follow-up (e.g., DPYD, UPB1, UPP1, TYMP). Finally, this extensively phenotyped and genotyped ASD clinical cohort serves as an invaluable resource for the next step of genome sequencing for complete genetic variation detection.
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67. Prigge MB, Lange N, Bigler ED, Merkley TL, Neeley ES, Abildskov TJ, Froehlich AL, Nielsen JA, Cooperrider JR, Cariello AN, Ravichandran C, Alexander AL, Lainhart JE. {{Corpus Callosum Area in Children and Adults with Autism}}. {Research in autism spectrum disorders}. 2013;7(2):221-34.
Despite repeated findings of abnormal corpus callosum structure in autism, the developmental trajectories of corpus callosum growth in the disorder have not yet been reported. In this study, we examined corpus callosum size from a developmental perspective across a 30-year age range in a large cross-sectional sample of individuals with autism compared to a typically developing sample. Midsagittal corpus callosum area and the 7 Witelson subregions were examined in 68 males with autism (mean age 14.1 years; range 3-36 years) and 47 males with typical development (mean age 15.3 years; range 4-29 years). Controlling for total brain volume, increased variability in total corpus callosum area was found in autism. In autism, increased midsagittal areas were associated with reduced severity of autism behaviors, higher intelligence, and faster speed of processing (p=0.003, p=0.011, p=0.013, respectively). A trend toward group differences in isthmus development was found (p=0.029, uncorrected). These results suggest that individuals with autism benefit functionally from increased corpus callosum area. Our cross-sectional examination also shows potential maturational abnormalities in autism, a finding that should be examined further with longitudinal datasets.
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68. Rahbar MH, Samms-Vaughan M, Loveland KA, Ardjomand-Hessabi M, Chen Z, Bressler J, Shakespeare-Pellington S, Grove ML, Bloom K, Pearson DA, Lalor GC, Boerwinkle E. {{Seafood consumption and blood mercury concentrations in jamaican children with and without autism spectrum disorders}}. {Neurotoxicity research}. 2013 Jan;23(1):22-38.
Mercury is a toxic metal shown to have harmful effects on human health. Several studies have reported high blood mercury concentrations as a risk factor for autism spectrum disorders (ASDs), while other studies have reported no such association. The goal of this study was to investigate the association between blood mercury concentrations in children and ASDs. Moreover, we investigated the role of seafood consumption in relation to blood mercury concentrations in Jamaican children. Based on data for 65 sex- and age-matched pairs (2-8 years), we used a General Linear Model to test whether there is an association between blood mercury concentrations and ASDs. After controlling for the child’s frequency of seafood consumption, maternal age, and parental education, we did not find a significant difference (P = 0.61) between blood mercury concentrations and ASDs. However, in both cases and control groups, children who ate certain types of seafood (i.e., salt water fish, sardine, or mackerel fish) had significantly higher (all P < 0.05) geometric means blood mercury concentration which were about 3.5 times that of children living in the US or Canada. Our findings also indicate that Jamaican children with parents who both had education up to high school are at a higher risk of exposure to mercury compared to children with at least one parent who had education beyond high school. Based on our findings, we recommend additional education to Jamaican parents regarding potential hazards of elevated blood mercury concentrations, and its association with seafood consumption and type of seafood.
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69. Rescorla L, Safyer P. {{Lexical composition in children with autism spectrum disorder (ASD)}}. {Journal of child language}. 2013 Jan;40(1):47-68.
ABSTRACT For sixty-seven children with ASD (age 1;6 to 5;11), mean Total Vocabulary score on the Language Development Survey (LDS) was 65.3 words; twenty-two children had no reported words; and twenty-one children had 1-49 words. When matched for vocabulary size, children with ASD and children in the LDS normative sample did not differ in semantic category or word-class scores. Q correlations were large when percentage use scores for the ASD sample were compared with those for samples of typically developing children as well as children with vocabularies <50 words. The 57 words with the highest percentage use scores for the ASD children were primarily nouns, represented a variety of semantic categories, and overlapped substantially with the words having highest percentage use scores in samples of typically developing children as well as children with lexicons of <50 words. Results indicated that the children with ASD were acquiring essentially the same words as typically developing children, suggesting delayed but not deviant lexical composition.
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70. Riera DC, Phalen JA. {{Superior mesenteric artery syndrome in a patient with autism spectrum disorder: case report and review of the literature}}. {J Autism Dev Disord}. 2013 Jan;43(1):244-6.
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71. Rieske RD, Matson JL, Davis TE, 3rd, Konst MJ, Williams LW, Whiting SE. {{Examination and validation of a measure of anxiety specific to children with autism spectrum disorders}}. {Developmental neurorehabilitation}. 2013;16(1):9-16.
Objective: Investigated the use of a combined scale (Worry/Depressed and Avoidant scales) from the Autism Spectrum Disorders-Comorbidity for Children (ASD-CC) as a measure of anxiety. Alternative methods of measuring anxiety were examined using the ASD-CC in an ASD population. Methods: Participants included 147 children, age 2-16 years, evincing a mixture of behavior problems. Comparisons between scores on the ASD-CC and Behavior Assessment System for Children, Second Edition (BASC-2) were examined to determine the most efficacious method of measuring anxiety and to establish convergent and discriminant validity. Results: The worry/depressed subscale was the most effective subscale of the ASD-CC to measure anxiety with proven incremental validity over the combined scale. Conclusion: The worry/depressed subscale is the best measure of anxiety utilizing the ASD-CC in children with an ASD. Additionally, convergent and discriminant validity was demonstrated by comparing the scale with similar and dissimilar scales of the BASC-2.
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72. Saito K, Jang I, Kubota K, Hoshino T, Hotokezaka H, Yoshida N, Fujiwara T. {{Removable orthodontic appliance with nickel-titanium spring to reposition the upper incisors in an autistic patient}}. {Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry}. 2013 Jan;33(1):35-9.
A newly designed removable appliance with a shape-memory wire was used for the orthodontic treatment of the anterior teeth in an 11-year-old child who had autism and intellectual disability. The device was designed to reduce the lateral incisor crossbite and the central incisors’ labial rotation. The child was treated for 1 year with this removable appliance. Tooth movement was analyzed using cephalograms and surface data were derived from study models. This device proved to be very durable. The lateral incisor crossbite was corrected, and the inclination of the upper central incisors and the interincisal angle were improved. This appliance exerts light and continuous orthodontic force, without requiring any adjustments of the spring wire. The appliance also facilitated orthodontic treatment in a child with intellectual disability in whom treatment with a standard orthodontic device would be unsuitable.
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73. Schmidt JD, Luiselli JK, Rue H, Whalley K. {{Graduated exposure and positive reinforcement to overcome setting and activity avoidance in an adolescent with autism}}. {Behavior modification}. 2013 Jan;37(1):128-42.
Some students who have developmental disabilities avoid settings and activities that can improve their learning and quality of life. This two-phase study concerned an adolescent boy with autism who avoided the gross-motor exercise room, gymnasium, and music room at his school; he demonstrated distress, agitation, and problem behaviors when prompted to enter these areas. Using graduated exposure combined with positive reinforcement, he learned to enter these settings without resisting and eventually to participate in activities within the settings. This article discusses this intervention approach for reducing and eliminating avoidant behavior.
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74. Schrieken M, Visser J, Oosterling I, van Steijn D, Bons D, Draaisma J, van der Gaag RJ, Buitelaar J, Donders R, Rommelse N. {{Head circumference and height abnormalities in autism revisited: the role of pre- and perinatal risk factors}}. {European child & adolescent psychiatry}. 2013 Jan;22(1):35-43.
Pre/perinatal risk factors and body growth abnormalities have been studied frequently as early risk markers in autism spectrum disorder (ASD), yet their interrelatedness in ASD has received very little research attention. This is surprising, given that pre/perinatal risk factors can have a substantial impact on growth trajectories in the first years of life. We aimed to determine which pre/perinatal factors were more prevalent in ASD children and if these factors differentially influenced body growth in ASD and control children. A total of 96 ASD and 163 control children matched for gender participated. Data of growth of head size and body length during the first 13 months of life were collected. Data on pre/perinatal risk factors were retrospectively collected through standardized questionnaires. Results indicated that after matching for SES, prematurity/low birth weight and being first born were more prevalent in the ASD versus the control group. In addition, with increasing age children with ASD tended to have a proportionally smaller head circumference compared to their height. However, the effect of prematurity/low birth weight on head growth corrected for height was significantly different in ASD and control children: premature/low birth weight control children showed a disproportionate larger head circumference in relation to height during their first year of life, whereas this effect was absent in premature/low birth weight ASD children. This may suggest that the etiology of abnormal growth is potentially different in ASD and control children: where abnormal growth in control children is related to suboptimal conditions in the uterus, abnormal growth in ASD may be more strongly related to the causal factors that also increase the risk for ASD. However, prospective studies measuring growth and ASD characteristics in both premature/low birth weight and a terme children are necessary to support this conclusion.
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75. Silverman JL, Oliver CF, Karras MN, Gastrell PT, Crawley JN. {{AMPAKINE enhancement of social interaction in the BTBR mouse model of autism}}. {Neuropharmacology}. 2013 Jan;64:268-82.
Autism is a neurodevelopmental disorder in which the first diagnostic symptom is unusual reciprocal social interactions. Approximately half of the children diagnosed with an autism spectrum disorder also have intellectual impairments. General cognitive abilities may be fundamental to many aspects of social cognition. Cognitive enhancers could conceivably be of significant benefit to children and adults with autism. AMPAKINE compounds are a novel class of pharmacological agents that act as positive modulators of AMPA receptors to enhance excitatory glutamatergic neurotransmission. This class of compounds was reported to improve learning and memory in several rodent and non-human primate tasks, and to normalize respiratory abnormalities in a mouse model of Rett syndrome. Here we evaluate the actions of AMPA compounds in adult male and female BTBR mice, a well characterized mouse model of autism. Acute treatment with CX1837 and CX1739 reversed the deficit in sociability in BTBR mice on the most sensitive parameter, time spent sniffing a novel mouse as compared to time spent sniffing a novel object. The less sensitive parameter, time in the chamber containing the novel mouse versus time in the chamber containing the novel object, was not rescued by CX1837 or CX1739 treatment. Preliminary data with CX546, in which beta-cyclodextrin was the vehicle, revealed behavioral effects of the acute intraperitoneal and oral administration of vehicle alone. To circumvent the artifacts introduced by the vehicle administration, we employed a novel treatment regimen using pellets of peanut butter for drug delivery. Absence of vehicle treatment effects when CX1837 and CX1739 were given in the peanut butter pellets, to multiple cohorts of BTBR and B6 control mice, confirmed that the pharmacologically-induced improvements in sociability in BTBR were not confounded by the administration procedures. The highest dose of CX1837 improved the cognitive deficit in novel object recognition in BTBR. No drug effects were detected on the high levels of repetitive self-grooming in BTBR. In open field tests, CX1837 and CX1739 did not induce hyperactivity or sedation in either strain. It is interesting to speculate that the ability of CX1837 and CX1739 to restore aspects of sociability in BTBR mice could utilize synaptic mechanisms regulating social cognition, suggesting a potential pharmacological target for interventions to treat symptoms of autism. This article is part of a Special Issue entitled ‘Cognitive Enhancers’.
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76. Spek AA, van Ham NC, Nyklicek I. {{Mindfulness-based therapy in adults with an autism spectrum disorder: A randomized controlled trial}}. {Research in developmental disabilities}. 2013 Jan;34(1):246-53.
Research shows that depression and anxiety disorders are the most common psychiatric concern in autism spectrum disorders (ASD). Mindfulness-based therapy (MBT) has been found effective in reducing anxiety and depression symptoms, however research in autism is limited. Therefore, we examined the effects of a modified MBT protocol (MBT-AS) in high-functioning adults with ASD. 42 participants were randomized into a 9-week MBT-AS training or a wait-list control group. Results showed a significant reduction in depression, anxiety and rumination in the intervention group, as opposed to the control group. Furthermore, positive affect increased in the intervention group, but not in the control group. Concluding, the present study is the first controlled trial to demonstrate that adults with ASD can benefit from MBT-AS.
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77. Steiner AM, Gengoux GW, Klin A, Chawarska K. {{Pivotal response treatment for infants at-risk for autism spectrum disorders: a pilot study}}. {J Autism Dev Disord}. 2013 Jan;43(1):91-102.
Presently there is limited research to suggest efficacious interventions for infants at-risk for autism. Pivotal response treatment (PRT) has empirical support for use with preschool children with autism, but there are no reports in the literature utilizing this approach with infants. In the current study, a developmental adaptation of PRT was piloted via a brief parent training model with three infants at-risk for autism. Utilizing a multiple baseline design, the data suggest that the introduction of PRT resulted in increases in the infants’ frequency of functional communication and parents’ fidelity of implementation of PRT procedures. Results provide preliminary support for the feasibility and utility of PRT for very young children at-risk for autism.
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78. Sun X, Allison C, Auyeung B, Baron-Cohen S, Brayne C. {{A review of healthcare service and education provision of Autism Spectrum Condition in mainland China}}. {Research in developmental disabilities}. 2013 Jan;34(1):469-79.
Little is known about the current situation regarding Autism Spectrum Conditions in mainland China. Electronic databases and bibliographies were searched to identify literature on service provision for ASC in both English and Chinese databases. 14 studies and 6 reports were reviewed. The findings of identified papers on service provision were summarized according to four settings for ASC including healthcare, mainstream education, private special education, and state-run special education. The literature on the situation of the healthcare system and educational services for children with ASC in China was profoundly limited. There were great financial problems faced by the parents of autistic children which were partly due to the under-developed healthcare and educational system for ASC.
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79. Sun X, Allison C, Auyeung B, Matthews FE, Murray S, Baron-Cohen S, Brayne C. {{Service provision for autism in mainland China: A service providers’ perspective}}. {Research in developmental disabilities}. 2013 Jan;34(1):440-51.
Qualitative semi-structured interviews were conducted with service providers regarding the current healthcare provision and education services for children with Autism Spectrum Conditions (ASC) and their families in mainland China. 10 service providers described the current policy and identified unmet needs within current practice. Providers perceived that children with ASC were an important but under-served group in mainland China. Two levels of service provision related to ASC were identified: (1) healthcare services mainly provided by government authorities; (2) education services mainly provided by the parents of children with ASC. Little cooperation was reported between the two types of providers. The structure of service provision for ASC is under-developed. There is an important need to establish coherent healthcare and education policies to support children with ASC and their families.
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80. Swartz JR, Wiggins JL, Carrasco M, Lord C, Monk CS. {{Amygdala habituation and prefrontal functional connectivity in youth with autism spectrum disorders}}. {Journal of the American Academy of Child and Adolescent Psychiatry}. 2013 Jan;52(1):84-93.
OBJECTIVE: Amygdala habituation, the rapid decrease in amygdala responsiveness to the repeated presentation of stimuli, is fundamental to the nervous system. Habituation is important for maintaining adaptive levels of arousal to predictable social stimuli and decreased habituation is associated with heightened anxiety. Input from the ventromedial prefrontal cortex (vmPFC) regulates amygdala activity. Although previous research has shown abnormal amygdala function in youth with autism spectrum disorders (ASD), no study has examined amygdala habituation in a young sample or whether habituation is related to amygdala connectivity with the vmPFC. METHOD: Data were analyzed from 32 children and adolescents with ASD and 56 typically developing controls who underwent functional magnetic resonance imaging while performing a gender identification task for faces that were fearful, happy, sad, or neutral. Habituation was tested by comparing amygdala activation to faces during the first half versus the second half of the session. VmPFC-amygdala connectivity was examined through psychophysiologic interaction analysis. RESULTS: Youth with ASD had decreased amygdala habituation to sad and neutral faces compared with controls. Moreover, decreased amygdala habituation correlated with autism severity as measured by the Social Responsiveness Scale. There was a group difference in vmPFC-amygdala connectivity while viewing sad faces, and connectivity predicted amygdala habituation to sad faces in controls. CONCLUSIONS: Sustained amygdala activation to faces suggests that repeated face presentations are processed differently in individuals with ASD, which could contribute to social impairments. Abnormal modulation of the amygdala by the vmPFC may play a role in decreased habituation.
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81. Tchaconas A, Adesman A. {{Autism spectrum disorders: a pediatric overview and update}}. {Current opinion in pediatrics}. 2012 Dec 27.
PURPOSE OF REVIEW: To provide an updated overview of autism spectrum disorders (ASDs), with particular attention to the pediatrician’s role in assessing and managing patients with ASDs. RECENT FINDINGS: Clinical perspectives on ASDs continue to evolve. The prevalence of ASDs in the United States continues to rise, and pediatricians are being tasked with the responsibility for universal screening. Further changes in its epidemiology will undoubtedly result from anticipated changes in the diagnostic criteria put forth in the upcoming revision to the Diagnostic and Statistical Manual (5th edition). Although there have been considerable advances in identifying a genetic cause in many more cases, the cause remains elusive in most cases. Recent studies of concordant twins suggest there is a stronger environmental component than previously believed. Research suggests earlier diagnosis may be feasible in some cases, and a new treatment approach has been shown to be effective in very young children. Although there have not been any large-scale advances in the medical treatment, some isolated successes have been reported and other promising therapies are now being investigated. SUMMARY: Clinical guidelines for ASDs are evolving, with updated diagnostic criteria expected and revised recommendations for evaluation also imminent. This article provides pediatricians with a clinical overview of ASD – with an emphasis on the clinical considerations relating to screening, evaluation, and management.
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82. Turygin N, Matson JL, Beighley J, Adams H. {{The effect of DSM-5 criteria on the developmental quotient in toddlers diagnosed with autism spectrum disorder}}. {Developmental neurorehabilitation}. 2013;16(1):38-43.
Objective: To determine the effect of the changing fifth edition of the Diagnostic and Statistical Manual (DSM-5) criteria on the developmental profiles of children diagnosed with an Autism spectrum disorder (ASD). Methods: This study examines the effect of DSM-5 changes on impairment profiles of a population of 2054 at-risk toddlers aged 17-36 months using the Battelle Developmental Inventory, Second Edition. Results: Toddlers diagnosed with an ASD according to the DSM-5 were found to represent a more impaired population compared to those who qualified for a diagnosis of an ASD based on the DSM-IV-TR, but not the DSM-5. The group diagnosed according to the DSM-IV-TR represented a population of toddlers who were more impaired than atypically developing peers. Conclusions: The proposed changes to the DSM will likely result in those diagnosed with an ASD according to the new criteria representing a more functionally impaired group. Implications of this proposed change are discussed.
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83. Vanvuchelen M, Van Schuerbeeck L, Roeyers H, De Weerdt W. {{Understanding the mechanisms behind deficits in imitation: Do individuals with autism know ‘what’ to imitate and do they know ‘how’ to imitate?}}. {Research in developmental disabilities}. 2013 Jan;34(1):538-45.
Although imitation problems have been associated with autism for many years, the underlying mechanisms of these problems remain subject to debate. In this article, the question whether imitation problems are caused by selection or correspondence problems is explored and discussed. This review revealed that hypotheses on the nature of imitation problems in autism are complicated and inconclusive at the present time. There is some evidence for impaired selection, especially implicating poor preferential attention to biological motion and poor ascription of intention to action. There is also some evidence that both transformations of perspectives and mapping of visual to motor information are impaired, characterized as correspondence problems. However, it is not yet clear how poor selection processes contribute to correspondence problems and vice versa. Insight in this interaction may provide a valuable contribution to our understanding of imitation problems in autism. For further research we recommend that tasks should be constrained to target as few mechanisms as possible in given experiments.
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84. Vomstein K, Stieltjes B, Poustka L. {{[Structural connectivity and diffusion tensor imaging in autism spectrum disorders]}}. {Zeitschrift fur Kinder- und Jugendpsychiatrie und Psychotherapie}. 2013 Jan;41(1):59-68.
Over the past years, diffusion tensor imaging (DTI) has become an important brain-imaging technique in neuropsychiatric research. DTI allows noninvasive visualization of white matter tracts. In addition, with DTI it is possible to quantify the structural integrity of the investigated fiber tracts. In child and adolescent psychiatry, DTI has become an increasingly important research tool, especially for conditions like autism spectrum disorders (ASD). Yet, correct interpretation of DTI findings can be challenging, especially for clinicians. Thus, the present review article explains the basic principles of this frequently used imaging technique as well as essential indices, like fractional anisotropy, radial, mean, and axial diffusivity and its two main applications, fibertracking and whole brain analysis. The strengths and weaknesses as well as future perspectives are discussed in light of DTI studies in children and adolescents with ASD.
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85. Vorstman JA, Anney RJ, Derks EM, Gallagher L, Gill M, de Jonge MV, van Engeland H, Kahn RS, Ophoff RA, the Autism Genome Project tISC. {{No evidence that common genetic risk variation is shared between schizophrenia and autism}}. {Am J Med Genet B Neuropsychiatr Genet}. 2013 Jan;162(1):55-60.
The similarity between aspects of the clinical presentation of schizophrenia and autism spectrum disorders (ASD) suggests that elements of the biological etiology may also be shared between these two disorders. Recently, an increasing number of rare, mostly structural genetic variants are reported to increase the risk of both schizophrenia and ASD. We hypothesized that given this evidence for a shared genetic background based on rare genetic variants, common risk alleles may also be shared between ASD and schizophrenia. To test this hypothesis, the polygenic score, which summarizes the collective effect of a large number of common risk alleles, was used. We examined whether the polygenic score derived from a schizophrenia case-control dataset, previously reported by Purcell et al., was able to differentiate ASD cases from controls. The results demonstrate that the schizophrenia-derived polygenic score is not different between ASD cases and controls, indicating that there is no important sharing of common risk alleles between the two neuropsychiatric disorders. Possibly, common risk alleles are less important in ASD in comparison to their more prominent role in schizophrenia and bipolar disorders. These findings provide important novel insights into shared and distinct elements of the genetic architecture of autism and schizophrenia. (c) 2012 Wiley Periodicals, Inc.
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86. Wagner JB, Hirsch SB, Vogel-Farley VK, Redcay E, Nelson CA. {{Eye-tracking, autonomic, and electrophysiological correlates of emotional face processing in adolescents with autism spectrum disorder}}. {J Autism Dev Disord}. 2013 Jan;43(1):188-99.
Individuals with autism spectrum disorder (ASD) often have difficulty with social-emotional cues. This study examined the neural, behavioral, and autonomic correlates of emotional face processing in adolescents with ASD and typical development (TD) using eye-tracking and event-related potentials (ERPs) across two different paradigms. Scanning of faces was similar across groups in the first task, but the second task found that face-sensitive ERPs varied with emotional expressions only in TD. Further, ASD showed enhanced neural responding to non-social stimuli. In TD only, attention to eyes during eye-tracking related to faster face-sensitive ERPs in a separate task; in ASD, a significant positive association was found between autonomic activity and attention to mouths. Overall, ASD showed an atypical pattern of emotional face processing, with reduced neural differentiation between emotions and a reduced relationship between gaze behavior and neural processing of faces.
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87. Watkins N, Rapp JT. {{The convergent validity of the Questions About Behavioral Function scale and functional analysis for problem behavior displayed by individuals with autism spectrum disorder}}. {Research in developmental disabilities}. 2013 Jan;34(1):11-6.
Only a few studies have compared the convergent validity of the Questions About Behavioral Function (QABF) scale to the results of functional analyses (FA). In the current study, six participants who emitted problem behaviors participated in either a brief, or a no-interaction-series FA, while each participant’s parent completed the QABF. The results of the study showed that for five participants, the QABF and the FA identified the same non-social function. For one participant, the QABF and FA identified potentially dual functions. Based on our findings, we suggest that the QABF could be embedded within a five-step functional assessment protocol.
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88. White SJ. {{The Triple I Hypothesis: Taking Another(‘s) Perspective on Executive Dysfunction in Autism}}. {J Autism Dev Disord}. 2013 Jan;43(1):114-21.
The executive dysfunction theory attempts to explain not only the repetitive behaviours but also the socio-communicative difficulties in autism. While it is clear that some individuals with autism perform poorly on certain executive function tasks, it remains unclear what underlies these impairments. The most consistent and striking difficulties are seen on tasks that are open-ended in structure, lack explicit instructions and involve arbitrary rules. I propose that impairment on such tasks is not due to executive dysfunction; instead, poor performance results from difficulties forming an implicit understanding of the experimenter’s expectations for the task, resulting in egocentric and idiosyncratic behaviour. These difficulties in taking another’s perspective may be explained parsimoniously by the mentalising difficulties robustly demonstrated to exist in autism.
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89. Yanardag M, Akmanoglu N, Yilmaz I. {{The effectiveness of video prompting on teaching aquatic play skills for children with autism}}. {Disability and rehabilitation}. 2013 Jan;35(1):47-56.
Objective: To investigate the effectiveness of the video prompting procedure on teaching aquatic play skills and to determine the effects of aquatic exercise training on the motor performance of children with autism. Design: A multiple probe design across behaviours was used and replicated across subjects for the instructional part of this study. Pretest-posttest design was applied for the exercise training part of this study. Methods: Three children with autism were taught three aquatic play skills in a one-to-one training format. Aquatic play skills intervention and aquatic exercise training were performed separately throughout 12 weeks at three sessions per week, each lasting 1 h. The video prompting procedure was utilized for the instruction part of this study. Results: Video prompting was effective in teaching aquatic play skills to children with autism. In addition, aquatic exercise training increased the total motor performance scores of all the participants after 12 weeks. According to the social validity results, the families gave positive feedback about the learned skills and movement capabilities of their children. Conclusion: Aquatic play skills and swimming pools are favoured for children with autism. This attractive intervention is recommended as a means to extend knowledge of leisure skills and motor development of children with autism. [Box: see text].
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90. Zablotsky B, Bradshaw CP, Anderson C, Law PA. {{The association between bullying and the psychological functioning of children with autism spectrum disorders}}. {J Dev Behav Pediatr}. 2013 Jan;34(1):1-8.
OBJECTIVE: : Bullying has become a major national concern, particularly as it affects children with disabilities. The current study aimed to determine the association between psychiatric comorbid conditions, involvement in bullying (victim, bully, or bully-victim), and the immediate psychological correlates of bullying among children with autism spectrum disorders (ASDs). METHODS: : A national sample of 1221 parents completed a survey dedicated to the bullying and school experiences of their child with ASD, reporting on the immediate consequences of bullying involvement, including their child’s psychological well-being and any psychiatric comorbidity. Multivariate logistic regressions were performed to determine whether specific psychiatric comorbidities were associated with an increased risk of involvement as victim, bully, or bully-victim. Analyses of variance determined the relationship between bullying frequency and psychological functioning. All models adjusted for child and school covariates. RESULTS: : Children who were frequently victimized were more likely to present with internalizing symptoms, whereas children who frequently bullied others were more likely to exhibit emotion regulation problems. Children who were identified as frequent bully-victims presented with both internalizing symptoms and emotion regulation problems. Children with attention-deficit hyperactivity disorder (ADHD) and depression were more likely to have been victimized, whereas children with conduct disorder (CD) or oppositional defiant disorder (ODD) were more likely to have bullied other children. Children identified as bully-victims were more likely to have ADHD, CD, or ODD. CONCLUSIONS: : Children with ASDs who had displayed bullying behaviors in the past month exhibited psychological impairments, including psychiatric comorbidity. The frequency of bullying behaviors was significantly associated with the level of impairment.
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91. Zerbo O, Iosif AM, Walker C, Ozonoff S, Hansen RL, Hertz-Picciotto I. {{Is Maternal Influenza or Fever During Pregnancy Associated with Autism or Developmental Delays? Results from the CHARGE (CHildhood Autism Risks from Genetics and Environment) Study}}. {J Autism Dev Disord}. 2013 Jan;43(1):25-33.
We analyzed data from case groups of 538 children with autism spectrum disorders (ASD) and 163 with developmental delays (DD), and from 421 typically developing controls to assess associations with maternal influenza or fever during pregnancy. Exposure information was obtained by telephone interviews, and outcomes were clinically confirmed. Though neither ASD nor DD was associated with influenza, both were associated with maternal fever during pregnancy: OR’s (odds ratios) were 2.12 (95 % CI 1.17, 3.84) and 2.50 (95 % CI 1.20, 5.20) respectively. However, the fever-associated ASD risk was attenuated among mothers who reported taking antipyretic medications (OR = 1.30, 95 % CI 0.59, 2.84), but remained elevated for those who did not (OR = 2.55, 95 % CI 1.30, 4.99).
