1. Dereu M, Roeyers H, Raymaekers R, Meirsschaut M, Warreyn P. {{How useful are screening instruments for toddlers to predict outcome at age 4? General development, language skills, and symptom severity in children with a false positive screen for autism spectrum disorder}}. {Eur Child Adolesc Psychiatry};2012 (May 13)
Screening instruments for autism spectrum disorder (ASD) often generate many false positives. It is argued that these children may have other developmental difficulties and are also in need of thorough assessment and early intervention. The current study looked at the predictive validity of positive screens on the Checklist for Early Signs of Developmental Disorders (CESDD) and the Early Screening of Autistic Traits questionnaire (ESAT) at age 2 towards language, cognitive function, and symptom severity at age 4. Children who screened positive on the ESAT scored lower for both language and cognitive functioning at age 4 compared with children who screened negative on the ESAT. Also, the more signs of ASD that were recognized on the CESDD or ESAT, the lower the scores for language and cognitive functioning at age 4. False positive screens could be differentiated from true positive screens on the CESDD only in symptom severity score on the Autism Diagnostic Observation Schedule (ADOS). It seems that early screeners for ASD also detect children with other developmental disorders and that diagnostic instruments such as the ADOS are warranted to differentiate between children with ASD and other developmental problems.
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2. Fisch GS. {{Nosology and epidemiology in autism: Classification counts}}. {Am J Med Genet C Semin Med Genet};2012 (May 15);160C(2):91-103.
Since its initial description by Kanner in 1943, the criteria by which a diagnosis of autism or autism-like disorders was made-and their alleged etiologies portrayed-have undergone manifold changes, from a psychiatric disorder engendered by « refridgerator » parents to a neurodevelopmental disability produced in the main by genetic abnormalities. In addition, the behavioral characterization of autism has also entered the public consciousness and professional domains increasingly in the past 30 years, the effects of which we are continually coming to terms. A diagnosis of autism that once seemed quite unusual is now considered almost epidemic. Increasing numbers of individuals diagnosed with autism and related pervasive developmental disabilities will, in turn, affect the calculated prevalence of the disorder. In this essay, I attempt to account for the increasing prevalence of autism and autism-related disorders by examining its changing criteria, the individuals and instruments used to make the diagnosis, the reliability and validity of same, and the sample sizes and other aspects of the methodology needed to make an accurate estimate of its prevalence. (c) 2012 Wiley Periodicals, Inc.
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3. Fombonne E, Marcin C, Bruno R, Tinoco CM, Marquez CD. {{Screening for Autism in Mexico}}. {Autism Res};2012 (May 11)
In order to conduct the screening phase of the first epidemiological survey of autism spectrum disorders (ASDs) in Mexico, we needed a screening tool to detect autistic symptomatology in a large sample of school-age children. We used the Spanish version of the Social Responsiveness Scale (SRS). We recruited a clinical sample of 200 children (81% males; mean age: 7.4 years) with a confirmed diagnosis of ASDs and a sample of 363 control children (59.5% males; mean age: 8.5 years) without ASDs. Three-way analyses of variance (ANOVAs) identified a main effect of clinical status (ASDs vs. controls) for both parent and teacher scales, but no gender or age effect. The mean total and subscale raw scores were significantly different between the clinical and control groups for the parent and for the teacher SRS (P < 0.001). The internal consistency of the SRS was excellent. Receiver operating characteristic (ROC) analyses showed excellent discriminant validity of the SRS in the Mexican sample (area under the curve: 0.962 for the parent, 0.960 for the teacher). ROC curves were also used to determine which cutoff would provide the best trade-off between sensitivity and specificity. Mexican SRS scores were significantly higher than in the U.S. and German population for typically developing children but comparable for clinically referred subjects. The SRS is an acceptable screening instrument for epidemiological studies of ASDs in Mexico. Its psychometric properties are excellent and comparable to those derived from North American and other samples. Autism Res 2012, **: **-**. (c) 2012 International Society for Autism Research, Wiley Periodicals, Inc.
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4. Ghanizadeh A. {{Hyperbaric oxygen therapy for treatment of children with autism: a systematic review of randomized trials}}. {Med Gas Res};2012 (May 11);2(1):13.
ABSTRACT: There is a controversy about the efficacy of hyperbaric oxygen (HBO) therapy for the treatment of autism. This study systematically reviews the current evidences for treating of autism with HBO therapy. According to PRISMA guidelines for a systematic review, the databases of MEDLINE/Pubmed, Google Scholar, and Randomised Controlled Trials in Hyperbaric Medicine were electronically searched. In addition, medical subject heading terms and text words for hyperbaric oxygen therapy and autism were used. The main inclusion criteria were published studies which reported the original data from the trials conducted on the patients with autism and assessed outcomes with a valid and reliable instrument. A quality assessment was also conducted. The electronically search resulted in 18 title of publications. Two studies were randomized, double-blind, controlled-clinical trials. While some uncontrolled and controlled studies suggested that HBO therapy is effective for the treatment of autism, these promising effects are not replicated. Therefore, sham-controlled studies with rigorous methodology are required to be conducted in order to provide scientific evidence-based HBO therapy for autism treatment.
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5. Gurrieri F. {{Working up autism: The practical role of medical genetics}}. {Am J Med Genet C Semin Med Genet};2012 (May 15);160C(2):104-110.
The autism spectrum disorders (ASD) comprise a group of neurobehavioral phenotypes of heterogeneous etiology. In spite of a worldwide extensive research effort to unravel the genetic mystery of autism, medical geneticists are still facing an embarrassing lack of knowledge in dealing with the diagnosis, and consequently prognosis, of a child with autism. However, some lessons can be learned from accumulating experience in the clinical and molecular genetic evaluation of children with this condition. Patient evaluation, indications for molecular testing and counseling are the three aspects that will be discussed in this review. (c) 2012 Wiley Periodicals, Inc.
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6. Ionita-Laza I, Makarov V, Buxbaum JD. {{Scan-Statistic Approach Identifies Clusters of Rare Disease Variants in LRP2, a Gene Linked and Associated with Autism Spectrum Disorders, in Three Datasets}}. {Am J Hum Genet};2012 (May 9)
Cluster-detection approaches, commonly used in epidemiology and astronomy, can be applied in the context of genetic sequence data for the identification of genetic regions significantly enriched with rare disease-risk variants (DRVs). Unlike existing association tests for sequence data, the goal of cluster-detection methods is to localize significant disease mutation clusters within a gene or region of interest. Here, we focus on a chromosome 2q replicated linkage region that is associated with autism spectrum disorder (ASD) and that has been sequenced in three independent datasets. We found that variants in one gene, LRP2, residing on 2q are associated with ASD in two datasets (the combined variable-threshold-test p value is 1.2 x 10(-5)). Using a cluster-detection method, we show that in the discovery and replication datasets, variants associated with ASD cluster preponderantly in 25 kb windows (adjusted p values are p(1) = 0.003 and p(2) = 0.002), and the two windows are highly overlapping. Furthermore, for the third dataset, a 25 kb region similar to those in the other two datasets shows significant evidence of enrichment of rare DRVs. The region implicated by all three studies is involved in ligand binding, suggesting that subtle alterations in either LRP2 expression or LRP2 primary sequence modulate the uptake of LRP2 ligands. BMP4 is a ligand of particular interest given its role in forebrain development, and modest changes in BMP4 binding, which binds to LRP2 near the mutation cluster, might subtly affect development and could lead to autism-associated phenotypes.
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7. Kou Y, Betancur C, Xu H, Buxbaum JD, Ma’ayan A. {{Network- and attribute-based classifiers can prioritize genes and pathways for autism spectrum disorders and intellectual disability}}. {Am J Med Genet C Semin Med Genet};2012 (May 15);160C(2):130-142.
Autism spectrum disorders (ASD) are a group of related neurodevelopmental disorders with significant combined prevalence ( approximately 1%) and high heritability. Dozens of individually rare genes and loci associated with high-risk for ASD have been identified, which overlap extensively with genes for intellectual disability (ID). However, studies indicate that there may be hundreds of genes that remain to be identified. The advent of inexpensive massively parallel nucleotide sequencing can reveal the genetic underpinnings of heritable complex diseases, including ASD and ID. However, whole exome sequencing (WES) and whole genome sequencing (WGS) provides an embarrassment of riches, where many candidate variants emerge. It has been argued that genetic variation for ASD and ID will cluster in genes involved in distinct pathways and protein complexes. For this reason, computational methods that prioritize candidate genes based on additional functional information such as protein-protein interactions or association with specific canonical or empirical pathways, or other attributes, can be useful. In this study we applied several supervised learning approaches to prioritize ASD or ID disease gene candidates based on curated lists of known ASD and ID disease genes. We implemented two network-based classifiers and one attribute-based classifier to show that we can rank and classify known, and predict new, genes for these neurodevelopmental disorders. We also show that ID and ASD share common pathways that perturb an overlapping synaptic regulatory subnetwork. We also show that features relating to neuronal phenotypes in mouse knockouts can help in classifying neurodevelopmental genes. Our methods can be applied broadly to other diseases helping in prioritizing newly identified genetic variation that emerge from disease gene discovery based on WES and WGS. (c) 2012 Wiley Periodicals, Inc.
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8. Muers M. {{Human genetics: Fruits of exome sequencing for autism}}. {Nat Rev Genet};2012 (May 15)
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9. Scassellati B, Admoni H, Mataric M. {{Robots for Use in Autism Research}}. {Annu Rev Biomed Eng};2012 (May 9)
Autism spectrum disorders are a group of lifelong disabilities that affect people’s ability to communicate and to understand social cues. Research into applying robots as therapy tools has shown that robots seem to improve engagement and elicit novel social behaviors from people (particularly children and teenagers) with autism. Robot therapy for autism has been explored as one of the first application domains in the field of socially assistive robotics (SAR), which aims to develop robots that assist people with special needs through social interactions. In this review, we discuss the past decade’s work in SAR systems designed for autism therapy by analyzing robot design decisions, human-robot interactions, and system evaluations. We conclude by discussing challenges and future trends for this young but rapidly developing research area. Expected final online publication date for the Annual Review of Biomedical Engineering Volume 14 is July 15, 2012. Please see http://www.annualreviews.org/catalog/pubdates.aspx for revised estimates.
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10. Schwartz CE, Neri G. {{Autism and intellectual disability: Two sides of the same coin}}. {Am J Med Genet C Semin Med Genet};2012 (May 15);160C(2):89-90.
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11. Till SM, Wijetunge LS, Seidel VG, Harlow E, Wright AK, Bagni C, Contractor A, Gillingwater TH, Kind PC. {{Altered maturation of the primary somatosensory cortex in a mouse model of fragile X syndrome}}. {Hum Mol Genet};2012 (May 15);21(10):2143-2156.
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and results from the loss of the fragile X mental retardation protein (FMRP). Many fragile X-related cognitive and behavioral features emerge during childhood and are associated with abnormal synaptic and cellular organization of the cerebral cortex. Identifying the roles of FMRP in cortical development will provide a basis for understanding the pathogenesis of the syndrome. However, how the loss of FMRP influences the developmental trajectory of cortical maturation remains unclear. We took advantage of the stereotyped and well-characterized development of the murine primary somatosensory cortex to examine cortical maturation during a time-window that corresponds to late embryonic and early postnatal development in the human. In the Fmr1 knockout mouse, we find a delay in somatosensory map formation, alterations in the morphology profile of dendrites and spines of layer 4 neurons and a decrease in the synaptic levels of proteins involved in glutamate receptor signaling at times corresponding to the highest levels of FMRP expression. In contrast, cortical arealization, synaptic density in layer 4 and early postnatal regulation of mRNAs encoding synaptic proteins are not altered in Fmr1 knockout mice. The specificity of the developmental delay in Fmr1 knockout mice indicates that the loss of FMRP does not result in a general stalling of cerebral cortex maturation. Instead, our results suggest that inaccurate timing of developmental processes caused by the loss of FMRP may lead to alterations in neural circuitry that underlie behavioral and cognitive dysfunctions associated with FXS.
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12. White SJ. {{The Triple I Hypothesis: Taking Another(‘s) Perspective on Executive Dysfunction in Autism}}. {J Autism Dev Disord};2012 (May 15)
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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13. Wiggins LD, Baio J, Schieve L, Lee LC, Nicholas J, Rice CE. {{Retention of Autism Spectrum Diagnoses by Community Professionals: Findings From the Autism and Developmental Disabilities Monitoring Network, 2000 and 2006}}. {J Dev Behav Pediatr};2012 (May 10)
OBJECTIVE: Past research is inconsistent in the stability of autism spectrum disorder (ASD) diagnoses. The authors therefore sought to examine the proportion of children identified from a population-based surveillance system that had a change in classification from ASD to non-ASD and factors associated with such changes. METHODS: Children with a documented age of first ASD diagnosis noted in surveillance records by a community professional (n = 1392) were identified from the Autism and Developmental Disabilities Monitoring Network. Children were considered to have a change in classification if an ASD was excluded after the age of first recorded ASD diagnosis. Child and surveillance factors were entered into a multivariable regression model to determine factors associated with diagnostic change. RESULTS: Only 4% of our sample had a change in classification from ASD to non-ASD noted in evaluation records. Factors associated with change in classification from ASD to non-ASD were timing of first ASD diagnosis at 30 months or younger, onset other than developmental regression, presence of specific developmental delays, and participation in a special needs classroom other than autism at 8 years of age. CONCLUSIONS: Our results found that children with ASDs are likely to retain an ASD diagnosis, which underscores the need for continued services. Children diagnosed at 30 months or younger are more likely to experience a change in classification from ASD to non-ASD than children diagnosed at 31 months or older, suggesting earlier identification of ASD symptoms may be associated with response to intervention efforts or increased likelihood for overdiagnosis.
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14. Zappella M. {{Reversible autism and intellectual disability in children}}. {Am J Med Genet C Semin Med Genet};2012 (May 15);160C(2):111-117.
Studies on young children with reversible autism and intellectual disability are discussed. Present evidence suggests a clear cause in a minority of cases including early institutionalization, Landau and Kleffner syndrome, and other early onset epilepsies, intrauterine rubella, and blindness. The majority of cases have normal laboratory results and some have early onset Tourette syndrome. Preliminary data of a follow-up study of this last group are reported in 15 patients suggesting the possibility of two subgroups, one represented by early onset Tourette syndrome phenotype, characterized by a positive family history, and by its appearance at the same time as regression and persistence into adolescence while the other of a different nature. Genetic studies could be of help to clarify this issue and support a diagnosis of favorable outcome in young children. (c) 2012 Wiley Periodicals, Inc.
