1. Andrews J, Leonard H, Hammond GC, Girdler S, Rajapaksa R, Bathgate K, Downs J. {{Community participation for girls and women living with Rett syndrome}}. {Disabil Rehabil};2013 (Jul 25)
Abstract Objective: To describe the relationships between impairment and contextual factors and community participation for girls and women with Rett syndrome. Methods: Data was collected from a questionnaire completed in 2009 by families participating in the Australian Rett Syndrome Database (n = 214). Univariate and multivariate logistic regression were used to analyse relationships between impairment, personal and environmental factors and community participation. Results: The mean age of the girls and women was 17.6 years (SD = 7.95, range 3 to 34 years) with 114 (53.3%) girls still at school and 100 (46.7%) women post school. Frequency of activities was influenced by level of walking, community support and maternal education. For girls living at home, participation in activities was associated with greater functional independence and higher levels of maternal education. Participation in recreational (90.1%), physical/skill-based (67.6%) and/or social (70.3%) activities was commonly reported by families, while self-improvement (17.6%) activities were less reported. Younger girls participated in activities mainly with family members and older girls more frequently participated with carers. Conclusion: Participation for girls and women with Rett syndrome could be enhanced by stronger local community supports. There are also needs for the implementation of policies that ensure resources are available and accessible by those communities most in need. Implications for Rehabilitation Service providers need to ensure that families with less social advantage are able to access activities in the community. Families may need additional supports to access opportunities for participation as their daughter grows older. Carers in day centre and group home settings need access to training and resources to confirm and support their role in providing opportunities for participation for women with Rett syndrome.
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2. Anthony LG, Kenworthy L, Yerys BE, Jankowski KF, James JD, Harms MB, Martin A, Wallace GL. {{Interests in high-functioning autism are more intense, interfering, and idiosyncratic than those in neurotypical development}}. {Dev Psychopathol};2013 (Aug);25(3):643-652.
Although circumscribed interests are pathognomonic with autism, much about these interests remains unknown. Using the Interests Scale (IS), this study compares interests between 76 neurotypical (NT) individuals and 109 individuals with high-functioning autism spectrum disorder (HF-ASD) matched groupwise on age, IQ, and gender ratio. Participants and their parents/caregivers completed diagnostic measures (the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule; HF-ASD only), cognitive tests (Wechsler IQ Scales), and questionnaires (the Repetitive Behavior Scale-Revised, the Behavior Rating Inventory of Executive Function, and the Social Responsiveness Scale), in addition to the IS. Consistent with previous research, HF-ASD and NT individuals did not differ in number of interest areas, but the types of interests and intensity of those interests differed considerably. Using only the IS intensity score, 81% of individuals were correctly classified (NT or HF-ASD) in a logistic regression analysis. Among individuals with HF-ASD, Interests Scale scores were significantly related to Autism Diagnostic Observation Schedule, Behavior Rating Inventory of Executive Function, Repetitive Behavior Scale-Revised, and Social Responsiveness Scale scores, but they were not related to Autism Diagnostic Interview-Revised scores, IQ, gender, age, or psychotropic medication use. The type and intensity, but not the number, of interests distinguish high-functioning individuals with ASD from NT individuals.
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3. Bird G, Cook R. {{Mixed emotions: the contribution of alexithymia to the emotional symptoms of autism}}. {Transl Psychiatry};2013;3:e285.
It is widely accepted that autism is associated with disordered emotion processing and, in particular, with deficits of emotional reciprocity such as impaired emotion recognition and reduced empathy. However, a close examination of the literature reveals wide heterogeneity within the autistic population with respect to emotional competence. Here we argue that, where observed, emotional impairments are due to alexithymia-a condition that frequently co-occurs with autism-rather than a feature of autism per se. Alexithymia is a condition characterized by a reduced ability to identify and describe one’s own emotion, but which results in reduced empathy and an impaired ability to recognize the emotions of others. We briefly review studies of emotion processing in alexithymia, and in autism, before describing a recent series of studies directly testing this ‘alexithymia hypothesis’. If found to be correct, the alexithymia hypothesis has wide-reaching implications for the study of autism, and how we might best support subgroups of autistic individuals with, and without, accompanying alexithymia. Finally, we note the presence of elevated rates of alexithymia, and inconsistent reports of emotional impairments, in eating disorders, schizophrenia, substance abuse, Parkinson’s Disease, multiple sclerosis and anxiety disorders. We speculate that examining the contribution of alexithymia to the emotional symptoms of these disorders may bear fruit in the same way that it is starting to do in autism.
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4. Guthrie W, Swineford LB, Wetherby AM, Lord C. {{Comparison of DSM-IV and DSM-5 Factor Structure Models for Toddlers With Autism Spectrum Disorder}}. {J Am Acad Child Adolesc Psychiatry};2013 (Aug);52(8):797-805 e792.
OBJECTIVE: The present study examined the factor structure of autism symptoms in toddlers, to aid understanding of the phenotype during the developmental period that represents the earliest manifestations of autism symptoms. This endeavor is particularly timely, given changes in symptom structure from the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV) to the recently released Fifth Edition (DSM-5). METHOD: Factor structure was examined in a sample of toddlers between 12 and 30 months of age (mean = 20.37 months, SD = 3.32 months) diagnosed with autism spectrum disorder (ASD) and recruited from community settings or referred for evaluation (N = 237). Confirmatory factor analyses were conducted comparing the relative fit of 4 distinct, previously proposed and validated models: DSM-5, DSM-IV, 1-factor, and an alternative 3-factor model proposed by van Lang et al. RESULTS: Findings revealed that the 1-factor model provided the poorest fit, followed by the DSM-IV model and the van Lang et al. model. The DSM-5 model provided the best fit to the data relative to other models and good absolute fit. Indicators for the confirmatory factor analyses, drawn from the Autism Diagnostic Observation Schedule-Toddler Module (ADOS-T), loaded strongly onto the DSM-5 Social Communication and Social Interaction factor and more variably onto the DSM-5 Restricted/Repetitive Language and Behavior factor. CONCLUSIONS: Results indicate that autism symptoms in toddlers, as measured by the ADOS-T, are separable and best deconstructed into the 2-factor DSM-5 structure, supporting the reorganization of symptoms in the DSM-5. Consistency of the present results in toddlers with previous studies in older children and adults suggests that the structure of autism symptoms may be similar throughout development.
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5. Kern JK, Geier DA, Adams JB, Troutman MR, Davis GA, King PG, Geier MR. {{Handgrip strength in autism spectrum disorder compared with controls}}. {J Strength Cond Res};2013 (Aug);27(8):2277-2281.
Kern, JK, Geier, DA, Adams, JB, Troutman, MR, Davis, GA, King, PG, and Geier, MR. Handgrip strength in autism spectrum disorder compared with controls. J Strength Cond Res 27(8): 2277-2281, 2013-The study examined handgrip strength in participants diagnosed with an autism spectrum disorder (ASD) as compared with neurotypical children. Thirty-three children, aged 2-17 years, with an ASD and 33 gender-, race-, and age-matched neurotypical controls were tested using a handgrip dynamometer. The handgrip strength in participants with an ASD was significantly (p < 0.0001) lower than the neurotypical controls. The mean handgrip strength was 39.4 +/- 17.7 kPa in children with ASD and 65.1 +/- 26.7 kPa in controls. The results support the hypothesis that children with an ASD have significantly poorer handgrip strength as compared with neurotypical children. Because the handheld dynamometer has been shown to be a valid tool for measuring overall muscle strength, the results suggest that children with ASD have muscle weakness. Future studies are needed to determine the extent of muscle weakness in ASD, its ramifications, and the possible benefits of muscle strengthening. The present study provides support for the use of handgrip strength as a tool for the assessment of targeted treatment in ASD.
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6. Kuroda M, Kawakubo Y, Kuwabara H, Yokoyama K, Kano Y, Kamio Y. {{A cognitive-behavioral intervention for emotion regulation in adults with high-functioning autism spectrum disorders: study protocol for a randomized controlled trial}}. {Trials};2013 (Jul 23);14(1):231.
BACKGROUND: Adults with high-functioning autism spectrum disorders (ASD) have difficulties in social communication; thus, these individuals have trouble understanding the mental states of others. Recent research also suggests that adults with ASD are unable to understand their own mental states, which could lead to difficulties in emotion-regulation. Some studies have reported the efficacy of cognitive-behavioral therapy (CBT) in improving emotion-regulation among children with ASD. The current study will investigate the efficacy of group-based CBT for adults with ASD. DESIGN: The study is a randomized, waitlist controlled, single-blinded trial. The participants will be 60 adults with ASD; 30 will be assigned to a CBT group and 30 to a waitlist control group. Primary outcome measures are the 20-item Toronto Alexithymia Scale, the Coping Inventory for Stressful Situations, the Motion Picture Mind-Reading task, and an ASD questionnaire. The secondary outcome measures are the Center for Epidemiological Studies Depression Scale, the World Health Organization Quality of Life Scale 26-item version, the Global Assessment of Functioning, State-trait Anxiety Inventory, Social Phobia and Anxiety Inventory, and Liebowitz Social Anxiety Scale. All will be administered during the pre- and post-intervention, and 12 week follow-up periods. The CBT group will receive group therapy over an 8 week period (one session per week) with each session lasting approximately 100 minutes. Group therapy will consist of four or five adults with ASD and two psychologists. We will be using visual materials for this program, mainly the Cognitive Affective Training kit. DISCUSSION: This trial will hopefully indicate the efficacy of group-based CBT for adults with high- functioning ASD.Trial registration: This trial was registered in The University Hospital Medical Information Network Clinical Trials Registry No. UMIN000006236.
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7. Maljaars J, Boonen H, Lambrechts G, Van Leeuwen K, Noens I. {{Maternal Parenting Behavior and Child Behavior Problems in Families of Children and Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord};2013 (Jul 24)
Parents of a child with autism spectrum disorder (ASD) face specific challenges in parenting, but concrete parenting behavior has never been properly investigated in these families. This exploratory questionnaire study compared parenting behaviors among mothers of children and adolescents with ASD (n = 552) and without ASD (n = 437) and examined associations between child behavior problems and parenting behavior. Results showed that mothers of children with ASD reported significantly lower scores on Rules and Discipline and higher scores on Positive Parenting, Stimulating the Development, and Adapting the Environment. Age was differently related to parenting behavior in the ASD versus control group. Furthermore, distinctive correlation patterns between parenting behavior and externalizing or internalizing behavior problems were found for both groups.
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8. Miller VM, Zhu Y, Bucher C, McGinnis W, Ryan LK, Siegel A, Zalcman S. {{Gestational flu exposure induces changes in neurochemicals, affiliative hormones and brainstem inflammation, in addition to autism-like behaviors in mice}}. {Brain Behav Immun};2013 (Jul 20)
The prevalence of neurodevelopmental disorders such as autism is increasing, however the etiology of these disorders is unclear and thought to involve a combination of genetic, environmental and immune factors. A recent epidemiological study found that gestational viral exposure during the first trimester increases risk of autism in offspring by two-fold. In mice gestational viral exposures alter behavior of offspring, but the biological mechanisms which underpin these behavioral changes are unclear. We hypothesized that gestational viral exposure induces changes in affiliative hormones, brainstem autonomic nuclei and neurotransmitters which are associated with behavioral alterations in offspring. To address this hypothesis, we exposed pregnant mice to influenza A virus (H3N2) on gestational day 9 and determined behavioral, hormonal and brainstem changes in male and female offspring. We found that gestational flu exposure induced dose-dependent alterations in social and aggressive behaviors (p 0.05) in male and female offspring and increases in locomotor behaviors particularly in male offspring (p 0.05). We found that flu exposure was also associated with reductions in oxytocin and serotonin (p 0.05) levels in male and female offspring and sex-specific changes in dopamine metabolism. In addition we found changes in catecholaminergic and microglia density in brainstem tissues of male flu exposed offspring only (p0.05). This study demonstrates that gestational viral exposure induces behavioral changes in mice, which are associated with alterations in affiliative hormones. In addition we found sex-specific changes in locomotor behavior, which may be associated with sex-specific alterations in dopamine metabolism and brainstem inflammation. Further investigations into maternal immune responses are necessary to unravel the molecular mechanisms which underpin abnormal hormonal, immune and behavioral responses in offspring after gestational viral exposure.
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9. Ravizza SM, Solomon M, Ivry RB, Carter CS. {{Restricted and repetitive behaviors in autism spectrum disorders: The relationship of attention and motor deficits}}. {Dev Psychopathol};2013 (Aug);25(3):773-784.
Restricted and repetitive behaviors (RRBs) are hallmark symptoms of autism spectrum disorders (ASDs); however, it has proven difficult to understand the mechanisms underlying these behaviors. One hypothesis suggests that RRBs are the result of a core deficit in attention. Alternatively, abnormalities of the motor system may constitute the central mechanism underlying RRBs, given motor deficits observed in ASDs. In this experiment, we investigated the etiology of RRBs and the relationship between attention and motor deficits. Movement impairments (a) may be indirectly related to attention deficits, (b) may result from a shared compromised process, or (c) may be independent. Twenty-two adolescents with ASD and 20 typically developing participants performed a spatial attention task. Movement impairments were assessed with a rhythmic tapping task. Attentional orienting and motor control were found to be related and supported the hypothesis that these impairments in ASD arise from a shared process. In contrast, measures of attention switching and motor control were found to be independent. Stereotyped behaviors, as assessed by parental ratings, were related more to the degree of motor impairment than to deficits of attention. These results suggest that both attentional orienting deficits and stereotyped RRBs are related to a compromised motor system.
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10. Russo AJ, Bazin AP, Bigega R, Carlson RS, 3rd, Cole MG, Contreras DC, Galvin MB, Gaydorus SS, Holik SD, Jenkins GP, Jones BM, Languell PA, Lyman PJ, March KP, Meuer KA, Peterson SR, Piedmonte MT, Quinn MG, Smaranda NC, Steves PL, Taylor HP, Waddingham TE, Warren JS. {{Plasma copper and zinc concentration in individuals with autism correlate with selected symptom severity}}. {Nutr Metab Insights};2012;5:41-47.
AIM: To assess plasma zinc and copper concentration in individuals with autism and correlate these levels with symptom severity. SUBJECTS AND METHODS: Plasma from 102 autistic individuals, and 18 neurotypical controls, were tested for plasma zinc and copper using inductively-coupled plasma-mass spectrometry. Copper and zinc levels and Cu/Zn were analyzed for possible correlation with severity of 19 symptoms. RESULTS: Autistic individuals had elevated plasma levels of copper and Cu/Zn and lower, but not significantly lower, plasma Zn compared to neurotypical controls. There was a correlation between Cu/Zn and expressive language, receptive language, focus attention, hyperactivity, fine motor skills, gross motor skills and Tip Toeing. There was a negative correlation between plasma zinc concentration and hyperactivity, and fine motor skills severity. DISCUSSION: These results suggest an association between plasma Cu/Zn and severity of symptoms associated with autism.
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11. Sperduti M, Pieron M, Leboyer M, Zalla T. {{Altered Pre-reflective Sense of Agency in Autism Spectrum Disorders as Revealed by Reduced Intentional Binding}}. {J Autism Dev Disord};2013 (Jul 24)
Autism spectrum disorders (ASDs) are neurodevelopmental conditions that severely affect social interaction, communication and several behavioural and cognitive functions, such as planning and monitoring motor actions. A renewed interest in intrapersonal cognition has recently emerged suggesting a putative dissociation between impaired declarative processes, such as autobiographical memory, and spared implicit processes, such as the sense of agency (SoA) in ASDs. However, so far only a few studies have investigated the integrity of SoA using tasks exclusively tapping reflective mechanisms. Since pre-reflective processes of SoA are based on the same predictive internal models that are involved in planning and monitoring actions, we hypothesized that pre-reflective aspects of SoA, as measured by the intentional binding effect, would be altered in adults with high functioning autism spectrum disorders, relative to volunteers with typical development. Here, in accordance with our hypothesis, we report reduced IB in participants with ASDs.
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12. Sullivan S, Rai D, Golding J, Zammit S, Steer C. {{The Association Between Autism Spectrum Disorder and Psychotic Experiences in the Avon Longitudinal Study of Parents and Children (ALSPAC) Birth Cohort}}. {J Am Acad Child Adolesc Psychiatry};2013 (Aug);52(8):806-814 e802.
OBJECTIVE: Studies report overlap between autism spectrum disorders and psychosis. This may indicate a relationship between the 2 disorders or an artificial overlap due to similarity of symptoms. The aim of this study was to investigate whether autism spectrum disorder and autistic traits predict psychotic experiences in early adolescence. METHOD: This study analyzes prospective data from a cohort. A dataset was analyzed of 5,359 cohort members who had provided data on autistic traits and/or a diagnosis of an autism spectrum disorder and psychotic experiences at age 12 years. RESULTS: A diagnosis of an autism spectrum disorder (odds ratio = 2.81, 95% confidence interval = 1.07, 7.34 p = .035) and childhood autistic traits (odds ratio = 1.15, 95% confidence interval = 1.05, 1.26 p = .0018) were associated with psychotic experiences after adjustment for confounders. CONCLUSIONS: These findings suggest a shared neurodevelopmental origin for autism and psychosis.
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13. Tipton LA, Blacher J. {{Brief Report: Autism Awareness: Views from a Campus Community}}. {J Autism Dev Disord};2013 (Jul 24)
This paper reports on a college community’s views of the diagnostic characteristics and causes associated with autism spectrum disorders. An anonymous on-line survey of autism knowledge was distributed via campus server university-wide to all undergraduates, graduate students, faculty, and staff. Of the 1,057 surveys completed, 76 % of respondents had more correct answers than neutral and incorrect ones. Respondents who reported that they or someone in their immediate family had autism had significantly more correct responses than other respondents. Demographic variables of respondent sex, age, education, and role at the university independently accounted for significant, though modest, variance in autism knowledge. More accurate and widespread dissemination of information about autism may facilitate a smoother transition for college students who are on the spectrum.
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14. Trevarthen C, Delafield-Butt JT. {{Autism as a developmental disorder in intentional movement and affective engagement}}. {Front Integr Neurosci};2013;7:49.
We review evidence that autistic spectrum disorders have their origin in early prenatal failure of development in systems that program timing, serial coordination and prospective control of movements, and that regulate affective evaluations of experiences. There are effects in early infancy, before medical diagnosis, especially in motor sequencing, selective or exploratory attention, affective expression and intersubjective engagement with parents. These are followed by retardation of cognitive development and language learning in the second or third year, which lead to a diagnosis of ASD. The early signs relate to abnormalities that have been found in brain stem systems and cerebellum in the embryo or early fetal stage, before the cerebral neocortex is functional, and they have clear consequences in infancy when neocortical systems are intensively elaborated. We propose, with evidence of the disturbances of posture, locomotion and prospective motor control in children with autism, as well as of their facial expression of interest and affect, and attention to other persons’ expressions, that examination of the psychobiology of motor affective disorders, rather than later developing cognitive or linguistic ones, may facilitate early diagnosis. Research in this area may also explain how intense interaction, imitation or « expressive art » therapies, which respond intimately with motor activities, are effective at later stages. Exceptional talents of some autistic people may be acquired compensations for basic problems with expectant self-regulations of movement, attention and emotion.
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15. van der Meer L, Kagohara D, Roche L, Sutherland D, Balandin S, Green VA, O’Reilly MF, Lancioni GE, Marschik PB, Sigafoos J. {{Teaching Multi-Step Requesting and Social Communication to Two Children with Autism Spectrum Disorders with Three AAC Options}}. {Augment Altern Commun};2013 (Jul 24)
The present study involved comparing the acquisition of multi-step requesting and social communication across three AAC options: manual signing (MS), picture exchange (PE), and speech-generating devices (SGDs). Preference for each option was also assessed. The participants were two children with autism spectrum disorders (ASD) who had previously been taught to use each option to request preferred items. Intervention was implemented in an alternating-treatments design. During baseline, participants demonstrated low levels of correct communicative responding. With intervention, both participants learned the target responses (two- and three-step requesting responses, greetings, answering questions, and social etiquette responses) to varying levels of proficiency with each communication option. One participant demonstrated a preference for using the SGD and the other preferred PE. The importance of examining preferences for using one AAC option over others is discussed.
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16. Walker S, Scherer SW. {{Identification of candidate intergenic risk loci in autism spectrum disorder}}. {BMC Genomics};2013 (Jul 24);14(1):499.
BACKGROUND: Copy number variations (CNVs) and DNA sequence alterations affecting specific neuronal genes are established risk factors for Autism Spectrum Disorder (ASD). In what is largely considered a genetic condition, so far, these mutations account for ~20% of individuals having an ASD diagnosis. However, non-coding genomic sequence also contains functional elements introducing additional disease risk loci for investigation. RESULTS: We have performed genome-wide analyses and identified rare inherited CNVs affecting non-genic intervals in 41 of 1491 (3%) of ASD cases examined. Examples of such intergenic CNV regions include 16q21 and 2p16.3 near known ASD risk genes CDH8 and NRXN1 respectively, as well as novel loci contiguous with ZHX2, MOCS1, LRRC4C, SEMA3C, and other genes. CONCLUSIONS: Rare variants in intergenic regions may implicate new risk loci and genes in ASD and also present useful data for comparison with coming whole genome sequence datasets.
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17. Whyatt C, Craig C. {{Sensory-motor problems in Autism}}. {Front Integr Neurosci};2013;7:51.
Despite being largely characterized as a social and cognitive disorder, strong evidence indicates the presence of significant sensory-motor problems in Autism Spectrum Disorder (ASD). This paper outlines our progression from initial, broad assessment using the Movement Assessment Battery for Children (M-ABC2) to subsequent targeted kinematic assessment. In particular, pronounced ASD impairment seen in the broad categories of manual dexterity and ball skills was found to be routed in specific difficulties on isolated tasks, which were translated into focused experimental assessment. Kinematic results from both subsequent studies highlight impaired use of perception-action coupling to guide, adapt and tailor movement to task demands, resulting in inflexible and rigid motor profiles. In particular difficulties with the use of temporal adaption are shown, with « hyperdexterity » witnessed in ballistic movement profiles, often at the cost of spatial accuracy and task performance. By linearly progressing from the use of a standardized assessment tool to targeted kinematic assessment, clear and defined links are drawn between measureable difficulties and underlying sensory-motor assessment. Results are specifically viewed in-light of perception-action coupling and its role in early infant development suggesting that rather than being « secondary » level impairment, sensory-motor problems may be fundamental in the progression of ASD. This logical and systematic process thus allows a further understanding into the potential root of observable motor problems in ASD; a vital step if underlying motor problems are to be considered a fundamental aspect of autism and allow a route of non-invasive preliminary diagnosis.
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18. Whyte EM, Nelson KE, Scherf KS. {{Idiom, syntax, and advanced theory of mind abilities in children with autism spectrum disorders}}. {J Speech Lang Hear Res};2013 (Jul 23)
PURPOSE: When investigating figurative language abilities (including idioms) in children with autism spectrum disorders (ASD), syntax abilities may be more important than once considered. In addition, there are limitations in the over-reliance of false belief tasks to measure theory of mind (TOM) abilities. The current study investigated idiom, syntax, and advanced TOM abilities in children with ASD compared to children with typical development (TD). METHOD: Twenty-six children with ASD, ages 5 to 12 years, were yoked to individuals in each of two control groups of children with TD: one matched on chronological age and nonverbal IQ, and the other matched on syntax age-equivalence and raw scores. Idiom comprehension, syntax, vocabulary, and two measures of advanced theory of mind abilities were examined. RESULTS: While children with ASD performed worse on idiom comprehension compared to the age-matched group with TD, they exhibited comparable idiom performance to the syntax-matched group with TD. Advanced TOM abilities were related to idiom comprehension for children with ASD, but not for children with TD, above the contributions of basic language abilities. CONCLUSIONS: Syntax abilities should be used as a matching variable when examining figurative or other late-developing language skills.
