1. Breidbord J, Croudace TJ. {{Reliability Generalization for Childhood Autism Rating Scale}}. {J Autism Dev Disord};2013 (May 1)
The Childhood Autism Rating Scale (CARS) is a popular behavior-observation instrument that was developed more than 34 years ago and has since been adopted in a wide variety of contexts for assessing the presence and severity of autism symptomatology in both children and adolescents. This investigation of the reliability of CARS scores involves meta-analysis and meta-regression of empirical data from reports of original research that made use of CARS between 1980 and 2012. Findings of good internal consistency (.896, 95 % CI .877-.913) and good interrater reliability (.796, 95 % CI .736-.844) support use of CARS at least in early-phase, exploratory research. Evidence of heterogeneity among literature data indicates that reliability is a property of CARS scores and is not intrinsic to the instrument itself. As the first of its kind pertaining to autism, this investigation provides guidance for reviews of other instruments’ ratings.
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2. Gibson J, Adams C, Lockton E, Green J. {{Social communication disorder outside autism? A diagnostic classification approach to delineating pragmatic language impairment, high functioning autism and specific language impairment}}. {J Child Psychol Psychiatry};2013 (May 3)
BACKGROUND: Developmental disorders of language and communication present considerable diagnostic challenges due to overlapping of symptomatology and uncertain aetiology. We aimed to further elucidate the behavioural and linguistic profile associated with impairments of social communication occurring outside of an autism diagnosis. METHODS: Six to eleven year olds diagnosed with pragmatic language impairment (PLI), high functioning autism (HFA) or specific language impairment (SLI) were compared on measures of social interaction with peers (PI), restricted and repetitive behaviours/interests (RRBIs) and language ability. Odds ratios (OR) from a multinomial logistic regression were used to determine the importance of each measure to diagnostic grouping. MANOVA was used to investigate differences in subscale scores for the PI measure. RESULTS: Greater degrees of PI difficulties (OR = 1.22, 95% CI = 1.05-1.41), RRBI (OR = 1.23, 95% CI = 1.06-1.42) and expressive language ability (OR = 1.16, 95% CI = 1.03-1.30) discriminated HFA from PLI. PLI was differentiated from SLI by elevated PI difficulties (OR = 0.82, 95% CI = 0.70-0.96) and higher expressive language ability (OR = 0.88, 95% CI = 0.77-0.98), but indistinguishable from SLI using RRBI (OR = 1.01, 95% CI=0.94-1.09). A significant effect of group on PI subscales was observed (theta = 1.38, F(4, 56) = 19.26, p < .01) and PLI and HFA groups shared a similar PI subscale profile. CONCLUSIONS: Results provide empirical support for a conceptualisation of PLI as a developmental impairment distinguishable from HFA by absence of RRBIs and by the presence of expressive language difficulties. PI difficulties appear elevated in PLI compared with SLI, but may be less pervasive than in HFA. Findings are discussed with reference to the proposed new category of ‘social communication disorder’ in DSM-5.
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3. Goldman S, O’Brien LM, Filipek PA, Rapin I, Herbert MR. {{Motor stereotypies and volumetric brain alterations in children with Autistic Disorder}}. {Res Autism Spectr Disord};2013 (Jan 1);7(1):82-92.
Motor stereotypies are defined as patterned, repetitive, purposeless movements. These stigmatizing motor behaviors represent one manifestation of the third core criterion for an Autistic Disorder (AD) diagnosis, and are becoming viewed as potential early markers of autism. Moreover, motor stereotypies might be a tangible expression of the underlying neurobiology of this neurodevelopmental disorder. In this study, we videoscored stereotypies recorded during semi-structured play sessions from school age children with AD. We examined the effect of severity and persistence over time of stereotypies on brain volumetric changes. Our findings confirmed that the brain volume of school age children with AD is, on average, larger than that of age-matched typically developing children. However, we have failed to detect any sign of volumetric differences in brain regions thought to be particularly linked to the pathophysiology of stereotypies. This negative finding may suggest that, at least with respect to motor stereotypies, functional rather than structural alterations might be the underpinning of these disruptive motor manifestations of autism.
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4. Halfon N, Kuo AA. {{What DSM-5 Could Mean to Children With Autism and Their Families}}. {JAMA Pediatr};2013 (May 3):1-6.
The American Psychiatric Association will update its Diagnostic and Statistical Manual of Mental Disorders to its fifth edition (DSM-5). With this new edition, the classification and diagnostic criteria for the spectrum of autistic disorders will change and become more specific and potentially more restrictive. Rather than maintaining several subcategories of autism including Asperger syndrome, there will be one new category called autism spectrum disorder. This change may alter which children are diagnosed as having autism as well as modify eligibility for treatment, educational, and other support services. We review the history and rationale for the proposed changes as well as several recent studies that have attempted to gauge the impact of these changes on children and families. We also consider how the proposed changes are likely to create new challenges for parents who are attempting to organize their children’s care and for pediatricians who are providing that care and assisting with care coordination.
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5. Hu VW. {{The expanding genomic landscape of autism: discovering the ‘forest’ beyond the ‘trees’}}. {Future Neurol};2013 (Jan 1);8(1):29-42.
Autism spectrum disorders are neurodevelopmental disorders characterized by significant deficits in reciprocal social interactions, impaired communication and restricted, repetitive behaviors. As autism spectrum disorders are among the most heritable of neuropsychiatric disorders, much of autism research has focused on the search for genetic variants in protein-coding genes (i.e., the ‘trees’). However, no single gene can account for more than 1% of the cases of autism spectrum disorders. Yet, genome-wide association studies have often identified statistically significant associations of genetic variations in regions of DNA that do not code for proteins (i.e., intergenic regions). There is increasing evidence that such noncoding regions are actively transcribed and may participate in the regulation of genes, including genes on different chromosomes. This article summarizes evidence that suggests that the research spotlight needs to be expanded to encompass far-reaching gene-regulatory mechanisms that include a variety of epigenetic modifications, as well as noncoding RNA (i.e., the ‘forest’). Given that noncoding RNA represents over 90% of the transcripts in most cells, we may be observing just the ‘tip of the iceberg’ or the ‘edge of the forest’ in the genomic landscape of autism.
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6. Kim MJ, Kim DJ, Kim SY, Yang JH, Kim MH, Lee SW, Jeong SO, Park SY, Ryu HM. {{Fragile X carrier screening in Korean women of reproductive age}}. {J Med Screen};2013 (May 3)
OBJECTIVE: To estimate the distribution of the FMR1 alleles and the prevalence of the premutaion (PM) and full mutation (FM) of the FMR1 gene in Korean women of reproductive age. METHODS: Using polymerase chain reaction and Southern blot, 5829 women of reproductive age were screened (low-risk group n = 5470 and high-risk group n = 359) and 11 prenatal diagnoses were completed between September 2003 and December 2011. RESULTS: Of the 5829 women screened, normal FMR1 alleles (11,607) had a bimodal distribution with most alleles having 29 (37.87%) and 30 (31.87%) CGG repeats. Of the 5470 women in the low-risk group, 7 PM were identified, giving a PM carrier frequency of 1:781; none of the women had Fragile X syndrome. We also identified 38 intermediate alleles, with a reported incidence of 1:143. Of the 11 prenatal diagnoses, five were normal, five had a premutation, and one had a full mutation allele. CONCLUSIONS: The carrier frequency is 1/781 (0.13%) in Korean women of reproductive age. This is lower than among Caucasians, but relatively higher than in other Asian populations. Although there may be a founder effect, these results might be valuable in understanding Fragile X syndrome in Koreans and Asians as a whole.
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7. Lemonda BC, Holtzer R, Goldman S. {{Relationship between executive functions and motor stereotypies in children with Autistic Disorder}}. {Res Autism Spectr Disord};2012 (Jul 1);6(3):1099-1106.
This study reports on the relationship between motor stereotypies and impairments in executive functions (EF) in children with Autistic Disorder (AD) and in children with Developmental Language Disorders (DLD). We hypothesized that low EF performance would predict higher frequency and longer durations of stereotypies in the AD group only. Twenty-two children (age range = 7-9 years, 6 months, girls = 5) with AD were recruited from a longitudinal multi-site study and compared to twenty-two non-autistic children with DLD (age range = 7-9 years, 6 months, girls = 5). The two groups were matched on non-verbal IQ and demographic characteristics. Frequency and duration of stereotypies were coded from videotaped semi-structured play sessions. EF measures included the Wisconsin Card Sorting Task (WCST) Categories, Wechsler Intelligence Scale for Children-Revised (WISC-R) Mazes, and Stanford-Binet Fourth Edition (SB-IV) Matrices. The scores for frequency and duration of stereotypies were higher in the AD group. Separate linear regressions revealed that group status, EF, and their interactions predict stereotypies. Specifically, lower EF scores predicted higher frequencies and longer durations of stereotypies in the AD group only. Analyses controlled for age, gender, and parent education. Findings suggest that in AD, EF impairments and stereotypies may be linked to shared brain pathways.
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8. McTighe SM, Neal SJ, Lin Q, Hughes ZA, Smith DG. {{The BTBR Mouse Model of Autism Spectrum Disorders Has Learning and Attentional Impairments and Alterations in Acetylcholine and Kynurenic Acid in Prefrontal Cortex}}. {PLoS One};2013;8(4):e62189.
Autism is a complex spectrum of disorders characterized by core behavioral deficits in social interaction, communication, repetitive stereotyped behaviors and restricted interests. Autism frequently presents with additional cognitive symptoms, including attentional deficits and intellectual disability. Preclinical models are important tools for studying the behavioral domains and biological underpinnings of autism, and potential treatment targets. The inbred BTBR T+tf/J (BTBR) mouse strain has been used as an animal model of core behavioral deficits in autism. BTBR mice exhibit repetitive behaviors and deficits in sociability and communication, but other aspects of their cognitive phenotype, including attentional performance, are not well characterized. We examined the attentional abilities of BTBR mice in the 5-choice serial reaction time task (5-CSRTT) using an automated touchscreen testing apparatus. The 5-CSRTT is an analogue of the human continuous performance task of attention, and so both the task and apparatus have translational relevance to human touchscreen cognitive testing. We also measured basal extracellular levels of a panel of neurotransmitters within the medial prefrontal cortex, a brain region critically important for performing the 5-CSRTT. We found that BTBR mice have increased impulsivity, defined as an inability to withhold responding, and decreased motivation, as compared to C57Bl/6J mice. Both of these features characterize attentional deficit disorders in humans. BTBR mice also display decreased accuracy in detecting short stimuli, lower basal levels of extracellular acetylcholine and higher levels of kynurenic acid within the prefrontal cortex. Intact cholinergic transmission in prefrontal cortex is required for accurate performance of the 5-CSRTT, consequently this cholinergic deficit may underlie less accurate performance in BTBR mice. Based on our findings that BTBR mice have attentional impairments and alterations in a key neural substrate of attention, we propose that they may be valuable for studying mechanisms for treatment of cognitive dysfunction in individuals with attention deficits and autism.
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9. Sabatino A, Rittenberg A, Sasson NJ, Turner-Brown L, Bodfish JW, Dichter GS. {{Functional Neuroimaging of Social and Nonsocial Cognitive Control in Autism}}. {J Autism Dev Disord};2013 (May 1)
This study investigated cognitive control of social and nonsocial information in autism using functional magnetic resonance imaging. Individuals with autism spectrum disorders (ASDs) and a neurotypical control group completed an oddball target detection task where target stimuli were either faces or nonsocial objects previously shown to be related to circumscribed interests in autism. The ASD group demonstrated relatively increased activation to social targets in right insular cortex and in left superior frontal gyrus and relatively decreased activation to nonsocial targets related to circumscribed interests in multiple frontostriatal brain regions. Findings suggest that frontostriatal recruitment during cognitive control in ASD is contingent on stimulus type, with increased activation for social stimuli and decreased activation for nonsocial stimuli related to circumscribed interests.
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10. Schmidt RJ. {{Maternal folic acid supplements associated with reduced autism risk in the child}}. {Evid Based Med};2013 (May 1)
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11. Tozer R, Atkin K, Wenham A. {{Continuity, commitment and context: adult siblings of people with autism plus learning disability}}. {Health Soc Care Community};2013 (May 3)
Sibling relationships are usually lifelong and reciprocal. They can assume particular significance when a brother or sister has a learning disability. Until recently, adult siblings of people with disabilities such as severe autism have been ignored by policy, practice and research. This qualitative study contributes to an emerging literature by exploring how adult siblings, who have a brother or sister with autism (plus learning disability) and living in England, give meaning to their family (and caring) relationships and engage with service delivery. We spoke to 21 adult siblings using semi-structured interviews and met with 12 of their siblings with autism. Our analysis, using a broad narrative approach, demonstrates the continuity of the sibling relationship and an enduring personalised commitment. The nature of this relationship, however, is sensitive to context. How non-disabled adult siblings relate to their childhood experience is fundamental when making sense of this, as is their need to fulfil other social and family obligations, alongside their ‘sense of duty’ to support their disabled brother or sister. Sibling experience was further mediated by negotiating their ‘perceived invisibility’ in social care policy and practice. Our work concludes that by understanding the way relationships between siblings have developed over time, adult siblings’ contribution to the lives of their brother or sister with autism can be better supported for the benefit of both parties. Such an approach would support current policy developments.
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12. Zafeiriou DI, Ververi A, Dafoulis V, Kalyva E, Vargiami E. {{Autism Spectrum Disorders: The Quest for Genetic Syndromes}}. {Am J Med Genet B Neuropsychiatr Genet};2013 (May 3)
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disabilities with various etiologies, but with a heritability estimate of more than 90%. Although the strong correlation between autism and genetic factors has been long established, the exact genetic background of ASD remains unclear. A number of genetic syndromes manifest ASD at higher than expected frequencies compared to the general population. These syndromes account for more than 10% of all ASD cases and include tuberous sclerosis, fragile X, Down, neurofibromatosis, Angelman, Prader-Willi, Williams, Duchenne, etc. Clinicians are increasingly required to recognize genetic disorders in individuals with ASD, in terms of providing proper care and prognosis to the patient, as well as genetic counseling to the family. Vice versa, it is equally essential to identify ASD in patients with genetic syndromes, in order to ensure correct management and appropriate educational placement. During investigation of genetic syndromes, a number of issues emerge: impact of intellectual disability in ASD diagnoses, identification of autistic subphenotypes and differences from idiopathic autism, validity of assessment tools designed for idiopathic autism, possible mechanisms for the association with ASD, etc. Findings from the study of genetic syndromes are incorporated into the ongoing research on autism etiology and pathogenesis; different syndromes converge upon common biological backgrounds (such as disrupted molecular pathways and brain circuitries), which probably account for their comorbidity with autism. This review paper critically examines the prevalence and characteristics of the main genetic syndromes, as well as the possible mechanisms for their association with ASD. (c) 2013 Wiley Periodicals, Inc.
