1. Byiers B, Symons F. {{The need for unbiased cognitive assessment in Rett syndrome: is eye tracking the answer?}}. {Dev Med Child Neurol};2013 (Apr);55(4):301-302.
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2. Einfeld SL, Tonge BJ, Clarke KS. {{Prevention and early intervention for behaviour problems in children with developmental disabilities}}. {Curr Opin Psychiatry};2013 (Mar 13)
PURPOSE OF REVIEW: To review the recent evidence regarding early intervention and prevention studies for children with developmental disabilities and behaviour problems from 2011 to 2013. Recent advances in the field are discussed and important areas for future research are highlighted. RECENT FINDINGS: Recent reviews and studies highlight the utility of antecedent interventions and skills training interventions for reducing behaviour problems. There is preliminary evidence for the effectiveness of parent training interventions when delivered in minimally sufficient formats or in clinical settings. Two recent studies have demonstrated the utility of behavioural interventions for children with genetic causes of disability. SUMMARY: Various forms of behavioural and parent training interventions are effective at reducing the behaviour problems in children with developmental disabilities. However, research on prevention and early intervention continues to be relatively scarce. Further large-scale dissemination studies and effectiveness studies in clinical or applied settings are needed.
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3. Farmer C, Thurm A, Grant P. {{Pharmacotherapy for the Core Symptoms in Autistic Disorder: Current Status of the Research}}. {Drugs};2013 (Mar 16)
The current review covers extant literature on pharmacotherapy for core symptoms of autism. The core symptoms of autism include impairments in social interaction and communication, as well as the presence of restricted and repetitive behaviors. There are no known efficacious treatments for the core social symptoms, although effects on repetitive behaviors are indicated with some data. While studies of fenfluramine, secretin, opiates, and mood stabilizers generally find no effect, mixed results suggest more research is needed on antidepressants and atypical antipsychotics. Newer lines of research, including cholinergic and glutamatergic agents and oxytocin, will be of considerable interest in the future. However, research on the treatment of core symptoms is plagued by limitations in study design, statistical power, and other issues inherent to the study of treatments for autism (e.g., heterogeneity of the disorder) that continue to prevent the elucidation of efficacious treatments.
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4. Freeth M, Sheppard E, Ramachandran R, Milne E. {{A Cross-Cultural Comparison of Autistic Traits in the UK, India and Malaysia}}. {J Autism Dev Disord};2013 (Mar 15)
The disorder of autism is widely recognised throughout the world. However, the diagnostic criteria and theories of autism are based on research predominantly conducted in Western cultures. Here we compare the expression of autistic traits in a sample of neurotypical individuals from one Western culture (UK) and two Eastern cultures (India and Malaysia), using the Autism-spectrum Quotient (AQ) in order to identify possible cultural differences in the expression of autistic traits. Behaviours associated with autistic traits were reported to a greater extent in the Eastern cultures than the Western culture. Males scored higher than females and science students scored higher than non-science students in each culture. Indian students scored higher than both other groups on the Imagination sub-scale, Malaysian students scored higher than both other groups on the Attention Switching sub-scale. The underlying factor structures of the AQ for each population were derived and discussed.
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5. Harrington RA, Lee LC, Crum RM, Zimmerman AW, Hertz-Picciotto I. {{Serotonin Hypothesis of Autism: Implications for Selective Serotonin Reuptake Inhibitor Use during Pregnancy}}. {Autism Res};2013 (Mar 14)
Serotonin, a neurotransmitter found throughout the brain and body, has long been of interest in autism. Repeated findings of elevated platelet serotonin levels in approximately one third of children with autism has led some to believe that dysfunctional serotonin signaling may be a causal mechanism for the disorder. Because serotonin is critical to fetal brain development, concerns have arisen regarding prenatal exposure to substances that manipulate serotonin levels, such as selective serotonin reuptake inhibitors (SSRIs). This review examines evidence regarding the serotonin system and autism spectrum disorders (ASD), as well as what the literature has reported thus far on developmental effects of prenatal exposure to SSRIs. Possible mechanisms by which SSRIs could affect the fetus during pregnancy and clinical implications are also discussed. Though the majority of studies conducted in infants and children suggest prenatal exposure to SSRIs does not affect neurodevelopment, interpretation must be tempered given small sample sizes. The only published study that focused on prenatal SSRI exposure and ASD found an increased risk with exposure to SSRIs, especially during the first trimester. Obstacles that will be faced in future research are isolating medication effects from maternal depression and, given the infrequent occurrence of exposure and outcome, obtaining an adequate sample size. Whether serotonin is an etiologic factor in ASD, and what it points to as a marker for subgrouping, remains unclear. Understanding how the development of ASD might be affected by prenatal factors that influence serotonin levels, such as SSRIs, could identify modifiable targets for prevention. Autism Res 2013, : -. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
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6. Minhas HM, Pescosolido MF, Schwede M, Piasecka J, Gaitanis J, Tantravahi U, Morrow EM. {{An unbalanced translocation involving loss of 10q26.2 and gain of 11q25 in a pedigree with autism spectrum disorder and cerebellar juvenile pilocytic astrocytoma}}. {Am J Med Genet A};2013 (Mar 12)
We report on a pedigree with a pair of brothers each with minor anomalies, developmental delay, and autistic-symptoms who share an unbalanced translocation (not detectable by karyotype). The unbalanced translocation involves a 7.1 Mb loss of the terminal portion of 10q, and a 4.2 Mb gain of 11q. One of the brothers also developed a cerebellar juvenile pilocytic astrocytoma. The father was found to be a balanced carrier and the couple had a previous miscarriage. We demonstrate that the breakpoint for the triplicated region from chromosome 11 is adjacent to two IgLON genes, namely Neurotrimin (NTM) and Opioid Binding Protein/Cell Adhesion Molecule-like (OPCML). These genes are highly similar neural cell adhesion molecules that have been implicated in synaptogenesis and oncogenesis, respectively. The children also have a 10q deletion and are compared to other children with the 10q deletion syndrome which generally does not involve autism spectrum disorders (ASDs) or cancer. Together these data support a role for NTM and OPCML in developmental delay and potentially in cancer susceptibility. (c) 2013 Wiley Periodicals, Inc.
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7. Pellicano E. {{Testing the Predictive Power of Cognitive Atypicalities in Autistic Children: Evidence from a 3-Year Follow-Up Study}}. {Autism Res};2013 (Mar 14)
This follow-up study investigated the predictive power of early cognitive atypicalities. Specifically, it examined whether early individual differences in specific cognitive skills, including theory of mind, executive function, and central coherence, could uniquely account for variation in autistic children’s behaviors-social communication, repetitive behaviors, and interests and insistence on sameness-at follow-up. Thirty-seven cognitively able children with an autism spectrum condition were assessed on tests tapping verbal and nonverbal ability, theory of mind (false-belief prediction), executive function (planning ability, cognitive flexibility, and inhibitory control), and central coherence (local processing) at intake and their behavioral functioning (social communication, repetitive behaviors and interests, insistence on sameness) 3 years later. Individual differences in early executive but not theory of mind skills predicted variation in children’s social communication. Individual differences in children’s early executive function also predicted the degree of repetitive behaviors and interests at follow-up. There were no predictive relationships between early central coherence and children’s insistence on sameness. These findings challenge the notion that distinct cognitive atypicalities map on to specific behavioral features of autism. Instead, early variation in executive function plays a key role in helping to shape autistic children’s emerging behaviors, including their social communication and repetitive behaviors and interests. Autism Res 2013, : -. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
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8. Rose SA, Djukic A, Jankowski JJ, Feldman JF, Fishman I, Valicenti-McDermott M. {{Rett syndrome: an eye-tracking study of attention and recognition memory}}. {Dev Med Child Neurol};2013 (Apr);55(4):364-371.
AIM: The aim of this study was to examine attention and recognition memory for faces and patterns in Rett syndrome, a severely disabling neurodevelopmental disorder caused by mutations in the X-linked MECP2 gene. METHOD: Because Rett syndrome impairs speech and hand use, precluding most neuropsychological testing, the visual paired-comparison paradigm (VPC) was used, together with eye tracking. In the VPC, two identical stimuli are presented for familiarization. On test, the familiar stimulus and a new one are paired, and recognition inferred from preferential looking to the novel target. Attention is measured by looking time, gaze dispersion, and number/length of fixations. Twenty-seven female patients with Rett syndrome (mean age 10y 6mo; SD 6y 8mo, age range 2-22y) from the Rett clinic at a children’s hospital were assessed in this study, along with 30 age- and sex-matched typically developing participants (outpatients from the same hospital). RESULTS: Although patients with Rett syndrome showed recognition of both faces and patterns, with novelty scores greater than chance (50%), their performance was significantly poorer than that of the typically developing comparison group. Their attention to both was less mature and marked by a more narrowly focused gaze, with fewer and longer fixations. When inspecting faces, attention to the eyes was similar in both groups; however, patients with Rett syndrome tended to ignore the nose and mouth. INTERPRETATION: This is one of the first studies to characterize attention and memory in individuals with Rett syndrome. Visually based techniques, such as the VPC, open a new avenue for quantifying the cognitive phenotype associated with this syndrome.
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9. Sterling L, Munson J, Estes A, Murias M, Webb SJ, King B, Dawson G. {{Fear-Potentiated Startle Response Is Unrelated to Social or Emotional Functioning in Adolescents With Autism Spectrum Disorders}}. {Autism Res};2013 (Mar 14)
It has been suggested that atypical amygdala function contributes to the social impairments characteristic of autism spectrum disorders (ASDs). Previous research has demonstrated that adolescents and adults with ASD generate normal response during a fear-potentiated startle paradigm, suggesting this aspect of amygdala function is intact and may not account for the social dysfunction associated with the condition. The amygdala also plays a crucial role in the expression of anxiety and may contribute to high rates of reported anxiety in individuals with ASD. The present study partially replicates prior work by examining the fear-potentiated startle response in adolescents with ASD, and extends this to investigate the relationship between startle response and anxiety. Eyeblink magnitude and latency (electromyographic activity; EMG) were collected from 20 adolescents with ASD and 19 typically developing (TD) age-matched adolescents during a fear-potentiated startle paradigm. Parent-report and self-report of anxiety and additional psychiatric symptoms were collected. Parental reports indicated higher rates of associated psychopathology in adolescents with ASD compared with TD adolescents. Consistent with previous results, both groups showed normal potentiated startle response, and no group differences in EMG were found. Symptoms of anxiety and level of social impairment were unrelated to startle response. These findings held for all levels of anxiety, suggesting that within the context of the fear-potentiated startle paradigm, amygdala response is not associated with degree of atypical social or emotional functioning in ASD. Autism Res 2013, : -. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
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10. Strickland DC, Coles CD, Southern LB. {{JobTIPS: A Transition to Employment Program for Individuals with Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Mar 15)
This study evaluated the effectiveness of an internet accessed training program that included Theory of Mind-based guidance, video models, visual supports, and virtual reality practice sessions in teaching appropriate job interview skills to individuals with high functioning Autism Spectrum Disorders. In a randomized study, twenty-two youth, ages 16-19, were evaluated during two employment interviews. Half received a training intervention following the initial interview and the half who served as a contrast group did not. Their performance pre and post intervention was assessed by four independent raters using a scale that included evaluation of both Content and Delivery. Results suggest that youth who completed the JobTIPS employment program demonstrated significantly more effective verbal content skills than those who did not.
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11. Terrett G, Rendell PG, Raponi-Saunders S, Henry JD, Bailey PE, Altgassen M. {{Episodic Future Thinking in Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2013 (Mar 16)
The capacity to imagine oneself experiencing future events has important implications for effective daily living but investigation of this ability in autism spectrum disorder (ASD) is limited. This study investigated future thinking in 30 children with high functioning ASD (IQ > 85) and 30 typically developing children. They completed the Adapted Autobiographical Interview, a measure which required participants to describe personal past events (indexing episodic memory) and plausible future events (indexing episodic future thinking). The results showed that there are ASD-related deficits in future thinking, and also provided preliminary evidence regarding cognitive mechanisms that may (and may not) contribute to these difficulties. The theoretical and practical implications of these results are discussed.
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12. Urraca N, Cleary J, Brewer V, Pivnick EK, McVicar K, Thibert RL, Schanen NC, Esmer C, Lamport D, Reiter LT. {{The Interstitial Duplication 15q11.2-q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature}}. {Autism Res};2013 (Mar 14)
Chromosomal copy number variants (CNV) are the most common genetic lesion found in autism. Many autism-associated CNVs are duplications of chromosome 15q. Although most cases of interstitial (int) dup(15) that present clinically are de novo and maternally derived or inherited, both pathogenic and unaffected paternal duplications of 15q have been identified. We performed a phenotype/genotype analysis of individuals with interstitial 15q duplications to broaden our understanding of the 15q syndrome and investigate the contribution of 15q duplication to increased autism risk. All subjects were recruited solely on the basis of interstitial duplication 15q11.2-q13 status. Comparative array genome hybridization was used to determine the duplication size and boundaries while the methylation status of the maternally methylated small nuclear ribonucleoprotein polypeptide N gene was used to determine the parent of origin of the duplication. We determined the duplication size and parental origin for 14 int dup(15) subjects: 10 maternal and 4 paternal cases. The majority of int dup(15) cases recruited were maternal in origin, most likely due to our finding that maternal duplication was coincident with autism spectrum disorder. The size of the duplication did not correlate with the severity of the phenotype as established by Autism Diagnostic Observation Scale calibrated severity score. We identified phenotypes not comprehensively described before in this cohort including mild facial dysmorphism, sleep problems and an unusual electroencephalogram variant. Our results are consistent with the hypothesis that the maternally expressed ubiquitin protein ligase E3A gene is primarily responsible for the autism phenotype in int dup(15) since all maternal cases tested presented on the autism spectrum. Autism Res 2013, : -. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
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13. Williams DL, Cherkassky VL, Mason RA, Keller TA, Minshew NJ, Just MA. {{Brain Function Differences in Language Processing in Children and Adults with Autism}}. {Autism Res};2013 (Mar 14)
Comparison of brain function between children and adults with autism provides an understanding of the effects of the disorder and associated maturational differences on language processing. Functional imaging (functional magnetic resonance imaging) was used to examine brain activation and cortical synchronization during the processing of literal and ironic texts in 15 children with autism, 14 children with typical development, 13 adults with autism, and 12 adult controls. Both the children and adults with autism had lower functional connectivity (synchronization of brain activity among activated areas) than their age and ability comparison group in the left hemisphere language network during irony processing, and neither autism group had an increase in functional connectivity in response to increased task demands. Activation differences for the literal and irony conditions occurred in key language-processing regions (left middle temporal, left pars triangularis, left pars opercularis, left medial frontal, and right middle temporal). The children and adults with autism differed from each other in the use of some brain regions during the irony task, with the adults with autism having activation levels similar to those of the control groups. Overall, the children and adults with autism differed from the adult and child controls in (a) the degree of network coordination, (b) the distribution of the workload among member nodes, and (3) the dynamic recruitment of regions in response to text content. Moreover, the differences between the two autism age groups may be indicative of positive changes in the neural function related to language processing associated with maturation and/or educational experience. Autism Res 2013, : -. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
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14. Wilson CE, Gillan N, Spain D, Robertson D, Roberts G, Murphy CM, Maltezos S, Zinkstok J, Johnston K, Dardani C, Ohlsen C, Deeley PQ, Craig M, Mendez MA, Happe F, Murphy DG. {{Comparison of ICD-10R, DSM-IV-TR and DSM-5 in an Adult Autism Spectrum Disorder Diagnostic Clinic}}. {J Autism Dev Disord};2013 (Mar 16)
An Autism Spectrum Disorder (ASD) diagnosis is often used to access services. We investigated whether ASD diagnostic outcome varied when DSM-5 was used compared to ICD-10R and DSM-IV-TR in a clinical sample of 150 intellectually able adults. Of those diagnosed with an ASD using ICD-10R, 56 % met DSM-5 ASD criteria. A further 19 % met DSM-5 (draft) criteria for Social Communication Disorder. Of those diagnosed with Autistic Disorder/Asperger Syndrome on DSM-IV-TR, 78 % met DSM-5 ASD criteria. Sensitivity of DSM-5 was significantly increased by reducing the number of criteria required for a DSM-5 diagnosis, or by rating ‘uncertain’ criteria as ‘present’, without sacrificing specificity. Reduced rates of ASD diagnosis may mean some ASD individuals will be unable to access clinical services.
