1. Alant E, Zheng W, Harty M, Lloyd L. {{Translucency Ratings of Blissymbols over Repeated Exposures by Children with Autism}}. {Augmentative and alternative communication (Baltimore, Md : 1985)}. 2013 Sep;29(3):272-83.
Abstract The use of graphic symbols forms an integral part of augmentative and alternative communication (AAC) strategies, particularly for pre-literate children. Although some studies have indicated that typically developing children and those with autism are able to learn symbol meanings with multiple exposures to graphic symbols, little is known about how children with autism rate the degree to which the symbol represents its referent (translucency) with repeated exposures. The purpose of this study was to describe the translucency ratings of children with autism over three consecutive exposures. Twenty-two children with autism participated in a Blissymbol translucency task that included 40 symbols. The Blissymbol task was modified from Bornman, Alant, and du Preez (2009) , who explored the translucency of Blissymbols with typically developing children. Findings of this study indicated statistically significant differences in total translucency ratings of the Blissymbols by the children with autism between Day 1 and Day 3 (medium effect size) with Day 3 yielding more positive ratings than Day 1. No single Blissymbol showed statistically significant differences over the days. Findings are interpreted and further implications for research are discussed.
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2. Al-Farsi YM, Waly MI, Deth RC, Al-Sharbati MM, Al-Shafaee M, Al-Farsi O, Al-Khaduri MM, Al-Adawi S, Hodgson NW, Gupta I, Ouhtit A. {{Impact of nutrition on serum levels of docosahexaenoic acid among Omani children with autism}}. {Nutrition (Burbank, Los Angeles County, Calif)}. 2013 Sep;29(9):1142-6.
OBJECTIVES: Autism is a lifelong neurodevelopmental disorder of early childhood. Dietary supplementation of the omega-3 fatty acid (docosahexaenoic acid [DHA]) during prenatal and postnatal life is considered a protective dietary intervention strategy to minimize the risk for autism spectrum disorder (ASD). To our knowledge, no relevant studies have been conducted in the Middle East investigating the status of DHA among children with autism during early childhood. The aim of this study was to investigate the serum levels and dietary intake status of DHA among Omani children recently diagnosed with ASD. METHODS: The present case-control study involved 80 Omani children (<5 y), 40 cases and 40 controls matched for age and sex. A semi-quantitative food frequency questionnaire was used to assess dietary intake of all the participants, while serum levels of DHA were measured using high-performance liquid chromatography. RESULTS: Our results showed that children with ASD had lower dietary consumption of foodstuff containing DHA, as well as lower serum levels of DHA than controls. CONCLUSION: The present finding from Oman supports the view of other studies that there are low serum levels of DHA among children with ASD.
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3. Amso D, Haas S, Tenenbaum E, Markant J, Sheinkopf SJ. {{Bottom-Up Attention Orienting in Young Children with Autism}}. {J Autism Dev Disord}. 2013 Sep 1.
We examined the impact of simultaneous bottom-up visual influences and meaningful social stimuli on attention orienting in young children with autism spectrum disorders (ASDs). Relative to typically-developing age and sex matched participants, children with ASDs were more influenced by bottom-up visual scene information regardless of whether social stimuli and bottom-up scene properties were congruent or competing. This initial reliance on bottom-up strategies correlated with severity of social impairment as well as receptive language impairments. These data provide support for the idea that there is enhanced reliance on bottom-up attention strategies in ASDs, and that this may have a negative impact on social and language development.
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4. Armstrong K, Iarocci G. {{Brief Report: The Autism Spectrum Quotient has Convergent Validity with the Social Responsiveness Scale in a High-Functioning Sample}}. {J Autism Dev Disord}. 2013 Sep;43(9):2228-32.
The Autism Spectrum Quotient (AQ) is widely used to measure autism spectrum disorder (ASD) symptoms and screen for ASD. It is readily available free of charge online and is easily accessible to practitioners, researchers and individuals who suspect that they may have an ASD. Thus, the AQ is a potentially useful, widely accessible tool for ASD screening. The objective of this study was to examine the convergent validity of the AQ using a well-established, published screening measure of autism: the Social Responsiveness Scale (SRS). Twenty-three high-functioning participants (aged 8-19) with ASD were administered both measures. Results indicated a significant correlation between the SRS and AQ ratings, providing evidence for convergent validity of the AQ with the SRS.
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5. Bachmann CJ, Manthey T, Kamp-Becker I, Glaeske G, Hoffmann F. {{Psychopharmacological treatment in children and adolescents with autism spectrum disorders in Germany}}. {Research in developmental disabilities}. 2013 Sep;34(9):2551-63.
Data on psychopharmacological treatment of individuals with autism spectrum disorder (ASD) are scarce, especially for European countries. This study evaluated psychopharmacotherapy utilisation in children and adolescents with a diagnosis of ASD in Germany. Data of a large statutory health insurance company were analysed and outpatients aged 0-24 years with a diagnosis of ASD during a 1-year-period (2009) were identified. For this cohort, the prescription of psychopharmacotherapy was evaluated. Aditionally, we analysed time trends in prescriptions from 2004 to 2009. One thousand one hundred twenty-four patients (75.4% male; mean age: 11.1 years) matched the inclusion criteria. The prevalence of ASD was 0.37% in males and 0.12% in females, respectively. Of all ASD patients, 33.0% were prescribed psychotropic drugs in 2009. 12.5% of ASD patients were treated with stimulants or atomoxetine, 11.7% with antipsychotics, 9.1% with antiepileptics, 6.8% with benzodiazepines, and 3.8% with antidepressants/SSRI. Regarding substances, methylphenidate (24.4% of all psychotropic prescriptions), risperidone (13.3%) and valproate (9.1%) were most frequently prescribed. Psychopharmacologic treatment prevalence was age-related and increased from 16.3% in individuals aged 0-4 years to 55.1% in 20-24 year olds. From 2004 to 2009, the proportion of ASD patients treated with psychotropic drugs rose from 25.9% to 33.0%. This naturalistic study furnishes evidence that the proportion of ASD patients treated with psychotropic drugs has grown considerably in Germany over the least years, with methylphenidate and risperidone being the most frequently prescribed substances. Compared with data from the USA, the proportion of ASD patients with psychopharmacological treatment is noticeably lower in Germany.
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6. Bellani M, Calderoni S, Muratori F, Brambilla P. {{Brain anatomy of autism spectrum disorders I. Focus on corpus callosum}}. {Epidemiology and psychiatric sciences}. 2013 Sep;22(3):217-21.
This brief review aims to examine the structural magnetic resonance imaging (sMRI) studies on corpus callosum in autism spectrum disorders (ASD) and discuss the clinical and demographic factors involved in the interpretation of results.
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7. Ben-Sasson A, Lamash L, Gal E. {{To enforce or not to enforce? The use of collaborative interfaces to promote social skills in children with high functioning autism spectrum disorder}}. {Autism}. 2013 Sep;17(5):608-22.
The goal of this stud was to examine whether a technological touch activated Collaborative Puzzle Game (CPG) increased positive social behaviors in children with high functioning autism spectrum disorder (HFASD). The CPG involved construction of a virtual puzzle by selecting and dragging pieces into the solution area on a touch screen table. The target picture was presented on the top of the screen. Six dyads of children with HFASD (aged 8-11 years) engaged in the CPG in a Free Play (FP) mode in which partners could independently move puzzle pieces versus in an Enforced Collaboration (EC) mode in which partners could only move puzzle pieces together. Videos of the dames were coded for the frequencies of positive and negative social interaction, affect, play, and autistic behaviors. Parents completed the Social Responsiveness Scale (SRS). Wilcoxon Signed-ranks tests indicated that children with HFASD showed significantly higher frequencies of positive social interaction and collaborative play in the EC versus FP modes but there were no differences in negative social behaviors. Differences in social behaviors between partners during the puzzle games were not significant; however there were differences within pair in the severity of social deficits as assessed by the SRS questionnaire. The CPG in an EC mode was effective in promoting positive social interaction by requiring children to work together towards a mutual goal. However, the increased challenge in this mode, particularly for children with lower social-communication skills, suggests the need for establishing selection criteria and mediation steps for such interventions.
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8. Botbol M, Cabon P, Kermarrec S, Tordjman S. {{Biological and psychological rhythms: An integrative approach to rhythm disturbances in autistic disorder}}. {Journal of physiology, Paris}. 2013 Sep;107(4):298-309.
Biological rhythms are crucial phenomena that are perfect examples of the adaptation of organisms to their environment. A considerable amount of work has described different types of biological rhythms (from circadian to ultradian), individual differences in their patterns and the complexity of their regulation. In particular, the regulation and maturation of the sleep-wake cycle have been thoroughly studied. Its desynchronization, both endogenous and exogenous, is now well understood, as are its consequences for cognitive impairments and health problems. From a completely different perspective, psychoanalysts have shown a growing interest in the rhythms of psychic life. This interest extends beyond the original focus of psychoanalysis on dreams and the sleep-wake cycle, incorporating central theoretical and practical psychoanalytic issues related to the core functioning of the psychic life: the rhythmic structures of drive dynamics, intersubjective developmental processes and psychic containment functions. Psychopathological and biological approaches to the study of infantile autism reveal the importance of specific biological and psychological rhythmic disturbances in this disorder. Considering data and hypotheses from both perspectives, this paper proposes an integrative approach to the study of these rhythmic disturbances and offers an etiopathogenic hypothesis based on this integrative approach.
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9. Campbell M, Reynolds L, Cunningham J, Minnis H, Gillberg C. {{Autism in Glasgow: cumulative incidence and the effects of referral age, deprivation and geographical location}}. {Child: care, health and development}. 2013 Sep;39(5):688-94.
Background Referrals to the Greater Glasgow Community Autism Team (CAT) made before the child’s sixth birthday were analysed to obtain an estimation of the proportion of children in Greater Glasgow with childhood autism and investigate whether there were any variations in diagnosis rates, or in age at referral and diagnosis, depending on deprivation or geographical location. Methods An analysis was made of the database recording referrals to Greater Glasgow CAT, between 2004 and 2007 inclusive, of children referred by age 6 years, comprising 584 cases. Cumulative incidence was calculated for childhood autism. Ages at referral and diagnosis were also analysed. Results For this subset of children, there were 246 diagnosed cases of childhood autism, a cumulative incidence from 2004 until 2007 of 11.1 per year per 10 000 children aged 0-6 years. Of children with an eventual diagnosis of autism by age 6, 72% were referred by the age of 4 years. Deprivation was found to have an association with referral and diagnostic rates, with higher rates seen in the most deprived. There was geographical variation in the cumulative incidence of autism. Conclusion Given that the populations were not known to differ in any manner that would lead to a true variation, the geographical variation in the cumulative incidence of autism in children up to 6 years in Greater Glasgow observed in this study is likely to represent differences in the care pathway between areas. Such differences may also explain the observed association with deprivation. Reasons for the variation are being explored.
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10. Chamak B, Bonniau B. {{Changes in the diagnosis of autism: how parents and professionals act and react in france}}. {Culture, medicine and psychiatry}. 2013 Sep;37(3):405-26.
The category of autism has undergone huge changes over the past 20 years. This study was undertaken to analyze the changes and how parents have experienced the diagnostic process in France. Data were obtained from in-depth interviews with parents and psychiatrists, and from 248 questionnaires with open-ended questions filled in by parents. We compared the experiences of parents with adult autistic children to those of parents with young autistic children. Progressively earlier age at diagnosis was evidenced. These changes occurred later than in North America and the UK, due to the reluctance of French professionals to adopt the new classifications of diseases which they viewed as undervaluing both the physician’s holistic clinical skills, and psychoanalytical interpretations. Parents’ experiences and interviews with psychiatrists were analyzed in order to document changes over time in the diagnostic process following tensions between parents and professionals, and intra-professional debates in psychiatry. Our data support the notion that the diagnosis of autism is historically and nationally contingent. The interactions between changes in the diagnostic process, policy, and parental experiences have led to changes in the way autism is defined, understood, and experienced.
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11. Cook JL, Blakemore SJ, Press C. {{Atypical basic movement kinematics in autism spectrum conditions}}. {Brain : a journal of neurology}. 2013 Sep;136(Pt 9):2816-24.
Individuals with autism spectrum conditions have difficulties in understanding and responding appropriately to others. Additionally, they demonstrate impaired perception of biological motion and problems with motor control. Here we investigated whether individuals with autism move with an atypical kinematic profile, which might help to explain perceptual and motor impairments, and in principle may contribute to some of their higher level social problems. We recorded trajectory, velocity, acceleration and jerk while adult participants with autism and a matched control group conducted horizontal sinusoidal arm movements. Additionally, participants with autism took part in a biological motion perception task in which they classified observed movements as ‘natural’ or ‘unnatural’. Results show that individuals with autism moved with atypical kinematics; they did not minimize jerk to the same extent as the matched typical control group, and moved with greater acceleration and velocity. The degree to which kinematics were atypical was correlated with a bias towards perceiving biological motion as ‘unnatural’ and with the severity of autism symptoms as measured by the Autism Diagnostic Observation Schedule. We suggest that fundamental differences in movement kinematics in autism might help to explain their problems with motor control. Additionally, developmental experience of their own atypical kinematic profiles may lead to disrupted perception of others’ actions.
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12. Cosar A, Ipcioglu OM. {{Re. Low folate and vitamin B12 nourishment is common in Omani children with newly diagnosed autism}}. {Nutrition (Burbank, Los Angeles County, Calif)}. 2013 Sep;29(9):1170.
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13. Curtin S, Vouloumanos A. {{Speech Preference is Associated with Autistic-Like Behavior in 18-Months-Olds at Risk for Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2013 Sep;43(9):2114-20.
We examined whether infants’ preference for speech at 12 months is associated with autistic-like behaviors at 18 months in infants who are at increased risk for autism spectrum disorder (ASD) because they have an older sibling diagnosed with ASD and in low-risk infants. Only low-risk infants listened significantly longer to speech than to nonspeech at 12 months. In both groups, relative preference for speech correlated positively with general cognitive ability at 12 months. However, in high-risk infants only, preference for speech was associated with autistic-like behavior at 18 months, while in low-risk infants, preference for speech correlated with language abilities. This suggests that in children at risk for ASD an atypical species-specific bias for speech may underlie atypical social development.
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14. Daley TC, Singhal N, Krishnamurthy V. {{Ethical considerations in conducting research on autism spectrum disorders in low and middle income countries}}. {J Autism Dev Disord}. 2013 Sep;43(9):2002-14.
Autism spectrum disorder (ASD) is being identified in an ever-increasing number of countries, including many that are low or middle income (LMIC). Research conducted in these countries requires awareness of unique ethical issues. Drawing on the experience of two organizations that have been involved in conducting and collaborating in ASD research in India, we describe specific considerations in conducting epidemiological, genetic and treatment studies as well as general principles from the field of multinational clinical research as they apply to the conduct of ASD research. We argue that greater attention to ethical concerns will result in quality studies conducted in LMICs that are also of greatest relevance for families and children with ASD.
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15. de Andres-Garcia S, Sarinana-Gonzalez P, Romero-Martinez A, Moya-Albiol L, Gonzalez-Bono E. {{Cortisol response to stress in caregivers of offspring with autism spectrum disorder is associated with care recipient characteristics}}. {Stress (Amsterdam, Netherlands)}. 2013 Sep;16(5):510-9.
Abstract Providing care for people with autism spectrum disorder (ASD) is particularly stressful and frequently associated with disturbances in the hypothalamic-pituitary-adrenal (HPA) axis of the caregiver. This study examined whether the stress response is modulated by factors such as age of the care recipient and number of years spent by the caregiver in providing care for the ASD individual. Caregivers of children (n = 15), adolescents (n = 12), and adults (n = 11) with ASD were exposed to two episodes of acute psychosocial stressor in a 1 day session. Salivary cortisol samples were obtained before, during, and after the stressor episodes. Psychological characteristics (states of anxiety, anger, and mood) were measured before and after the stressor episodes. The characteristics of the ASD individuals (age, degree of autism, global activity, and level of autonomy) were also registered. A difference in stress response was found when caregivers of ASD children were compared with those of ASD adolescents and adults, epsilon = 0.25, F(2.24,53.65) = 5.82, p < 0.004; epsilon = 0.23 and F(2.11,48.43) = 4.88, p < 0.01, respectively. Thus, upon acute-stressor exposure, caregivers of ASD individuals presented a stress response that correlated with the age of the patient (the older the patient, the lower the cortisol response). Additional factors, such as number of years spent providing care and level of autonomy of the recipient, also significantly contributed to the stress response. Together, the results demonstrate that recipient characteristics contribute to the detection of high-risk individuals within a caregiver population.
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16. Dickson PE, Corkill B, McKimm E, Miller MM, Calton MA, Goldowitz D, Blaha CD, Mittleman G. {{Effects of stimulus salience on touchscreen serial reversal learning in a mouse model of fragile X syndrome}}. {Behavioural brain research}. 2013 Sep 1;252:126-35.
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability in males and the most common genetic cause of autism. Although executive dysfunction is consistently found in humans with FXS, evidence of executive dysfunction in Fmr1 KO mice, a mouse model of FXS, has been inconsistent. One possible explanation for this is that executive dysfunction in Fmr1 KO mice, similar to humans with FXS, is only evident when cognitive demands are high. Using touchscreen operant conditioning chambers, male Fmr1 KO mice and their male wildtype littermates were tested on the acquisition of a pairwise visual discrimination followed by four serial reversals of the response rule. We assessed reversal learning performance under two different conditions. In the first, the correct stimulus was salient and the incorrect stimulus was non-salient. In the second and more challenging condition, the incorrect stimulus was salient and the correct stimulus was non-salient; this increased cognitive load by introducing conflict between sensory-driven (i.e., bottom-up) and task-dependent (i.e., top-down) signals. Fmr1 KOs displayed two distinct impairments relative to wildtype littermates. First, Fmr1 KOs committed significantly more learning-type errors during the second reversal stage, but only under high cognitive load. Second, during the first reversal stage, Fmr1 KOs committed significantly more attempts to collect a reward during the timeout following an incorrect response. These findings indicate that Fmr1 KO mice display executive dysfunction that, in some cases, is only evident under high cognitive load.
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17. Doggett RA, Krasno AM, Koegel LK, Koegel RL. {{Acquisition of multiple questions in the context of social conversation in children with autism}}. {J Autism Dev Disord}. 2013 Sep;43(9):2015-25.
Verbal initiations, such as questions, are essential components of social conversation often lacking in children with autism. Building on research showing that single questions can be taught in isolation, this study used a multiple baseline design to investigate whether a self-management intervention was effective for teaching concurrent acquisition and discrimination of three social questions in the context of conversation. Following intervention, participants rapidly increased their appropriate use of all three questions in a conversational context and maintained these gains over time. The participants also used questions appropriately with partners uninvolved in treatment. Additionally, the occasional presence of appropriate questions during baseline coupled with rapid improvement during intervention support theories that a lack of question-asking may be motivation-based rather than ability-based.
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18. Doi H, Fujisawa TX, Kanai C, Ohta H, Yokoi H, Iwanami A, Kato N, Shinohara K. {{Recognition of facial expressions and prosodic cues with graded emotional intensities in adults with asperger syndrome}}. {J Autism Dev Disord}. 2013 Sep;43(9):2099-113.
This study investigated the ability of adults with Asperger syndrome to recognize emotional categories of facial expressions and emotional prosodies with graded emotional intensities. The individuals with Asperger syndrome showed poorer recognition performance for angry and sad expressions from both facial and vocal information. The group difference in facial expression recognition was prominent for stimuli with low or intermediate emotional intensities. In contrast to this, the individuals with Asperger syndrome exhibited lower recognition accuracy than typically-developed controls mainly for emotional prosody with high emotional intensity. In facial expression recognition, Asperger and control groups showed an inversion effect for all categories. The magnitude of this effect was less in the Asperger group for angry and sad expressions, presumably attributable to reduced recruitment of the configural mode of face processing. The individuals with Asperger syndrome outperformed the control participants in recognizing inverted sad expressions, indicating enhanced processing of local facial information representing sad emotion. These results suggest that the adults with Asperger syndrome rely on modality-specific strategies in emotion recognition from facial expression and prosodic information.
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19. Dykstra JR, Sabatos-Devito MG, Irvin DW, Boyd BA, Hume KA, Odom SL. {{Using the Language Environment Analysis (LENA) system in preschool classrooms with children with autism spectrum disorders}}. {Autism}. 2013 Sep;17(5):582-94.
This study describes the language environment of preschool programs serving children with autism spectrum disorders (ASDs) and examines relationships between child characteristics and an automated measure of adult and child language in the classroom. The Language Environment Analysis (LENA) system was used with 40 children with ASD to collect data on adult and child language. Standardized assessments were administered to obtain language, cognitive, and autism severity scores for participants. With a mean of over 5 hours of recording across two days several months apart, there was a mean of 3.6 child vocalizations per minute, 1.0 conversational turns (in which either the adult or child respond to the other within 5 seconds) per minute, and 29.2 adult words per minute. Two of the three LENA variables were significantly correlated with language age-equivalents. Cognitive age-equivalents were also significantly correlated with two LENA variables. Autism Diagnostic Observation Schedule severity scores and LENA variables were not significantly correlated. Implications for using the LENA system with children with ASD in the school environment are discussed.
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20. Eack SM, Bahorik AL, Hogarty SS, Greenwald DP, Litschge MY, Mazefsky CA, Minshew NJ. {{Brief report: is cognitive rehabilitation needed in verbal adults with autism? Insights from initial enrollment in a trial of cognitive enhancement therapy}}. {J Autism Dev Disord}. 2013 Sep;43(9):2233-7.
Cognitive rehabilitation is an emerging set of potentially effective interventions for the treatment of autism spectrum disorder, yet the applicability of these approaches for « high functioning » adults who have normative levels of intelligence remains unexplored. This study examined the initial cognitive performance characteristics of 40 verbal adults with autism enrolled in a pilot trial of Cognitive Enhancement Therapy to investigate the need for cognitive rehabilitation in this population. Results revealed marked and broad deficits across neurocognitive and social-cognitive domains, despite above-average IQ. Areas of greatest impairment included processing speed, cognitive flexibility, and emotion perception and management. These findings indicate the need for comprehensive interventions designed to enhance cognition among verbal adults with autism who have intact intellectual functioning.
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21. Egawa J, Watanabe Y, Endo T, Someya T. {{Association of rs2129575 in the tryptophan hydroxylase 2 gene with clinical phenotypes of autism spectrum disorders}}. {Psychiatry and clinical neurosciences}. 2013 Sep;67(6):457-8.
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22. Elwin M, Ek L, Kjellin L, Schroder A. {{Too much or too little: Hyper- and hypo-reactivity in high-functioning autism spectrum conditions}}. {Journal of intellectual & developmental disability}. 2013 Sep;38(3):232-41.
Abstract Background Sensory reactivity in people with autism spectrum conditions (ASC) has been found to differ in comparison to reactivity in people without ASC. In this study sensory experiences of high-functioning individuals with ASC were explored and described. Method Interview data from 15 participants with a diagnosis of ASC were analysed by content analysis. Results Seven aspects of sensory experiences were identified: Being hyper- and hypo-reactive, reacting to general overload, having strong stimuli preferences, managing attentiveness to stimuli, managing sensory/motor stimuli, and dealing with consequences of sensory reactions in daily life. Conclusions The categorisation of sensory reactivity in this study can guide clinicians on how to pose questions about sensory issues to individuals with ASC. The assessment of spectrum-specific sensory experiences in high-functioning ASC and their association with other social and nonsocial features of ASC are goals for further research.
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23. Equit M, Piro-Hussong A, Niemczyk J, Curfs L, von Gontard A. {{Elimination disorders in persons with Prader-Willi and Fragile-X syndromes}}. {Neurourology and urodynamics}. 2013 Sep;32(7):986-92.
AIMS: Elimination disorders are common in typically developing children. Only few studies have addressed elimination disorders in persons with intellectual disability (ID)-and even fewer studies in those with specific syndromes. The aim of the study was to investigate the rates of elimination disorders and behavioral symptoms in persons with Prader-Willi (PWS) and Fragile-X syndromes (FXS) in a large sample. METHODS: Three hundred fifty-seven persons with PWS or FXS were recruited through parent self-help groups. A questionnaire regarding elimination symptoms, as well as the child behavior checklist (CBCL)/young adult behavior checklist (YABCL) were filled out by parents or caregivers. RESULTS: The sample included 191 persons with PWS (54.5% male) with a mean age of 20.0 years and 166 persons with FXS (92.2% male) with a mean age of 15.4 years. Persons with FXS were significantly more often affected by elimination disorders. 29.3% of persons with PWS and 48.8% of persons with FXS had at least one elimination disorder. Persons with FXS also had more often DUI (29.5% vs. 12.0%) and FI (28.9% vs. 12.6%). Rates of NE were similar in both groups (22.0% in PWS vs. 28.9% in FXS). Young adults with PWS had more behavioral symptoms in the clinical range (70.8% vs. 48.3%). Incontinence and behavioral symptoms were significantly associated in persons with FXS. CONCLUSIONS: NE, DUI, and FI are very common in persons with FXS and PWS and are associated with other behavioral symptoms in persons with FXS. They persist into adulthood. Early assessment and treatment are recommended. Neurourol. Urodynam. 32: 986-992, 2013. (c) 2012 Wiley Periodicals, Inc.
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24. Eran A, Li JB, Vatalaro K, McCarthy J, Rahimov F, Collins C, Markianos K, Margulies DM, Brown EN, Calvo SE, Kohane IS, Kunkel LM. {{Comparative RNA editing in autistic and neurotypical cerebella}}. {Molecular psychiatry}. 2013 Sep;18(9):1041-8.
Adenosine-to-inosine (A-to-I) RNA editing is a neurodevelopmentally regulated epigenetic modification shown to modulate complex behavior in animals. Little is known about human A-to-I editing, but it is thought to constitute one of many molecular mechanisms connecting environmental stimuli and behavioral outputs. Thus, comprehensive exploration of A-to-I RNA editing in human brains may shed light on gene-environment interactions underlying complex behavior in health and disease. Synaptic function is a main target of A-to-I editing, which can selectively recode key amino acids in synaptic genes, directly altering synaptic strength and duration in response to environmental signals. Here, we performed a high-resolution survey of synaptic A-to-I RNA editing in a human population, and examined how it varies in autism, a neurodevelopmental disorder in which synaptic abnormalities are a common finding. Using ultra-deep (>1000 x ) sequencing, we quantified the levels of A-to-I editing of 10 synaptic genes in postmortem cerebella from 14 neurotypical and 11 autistic individuals. A high dynamic range of editing levels was detected across individuals and editing sites, from 99.6% to below detection limits. In most sites, the extreme ends of the population editing distributions were individuals with autism. Editing was correlated with isoform usage, clusters of correlated sites were identified, and differential editing patterns examined. Finally, a dysfunctional form of the editing enzyme adenosine deaminase acting on RNA B1 was found more commonly in postmortem cerebella from individuals with autism. These results provide a population-level, high-resolution view of A-to-I RNA editing in human cerebella and suggest that A-to-I editing of synaptic genes may be informative for assessing the epigenetic risk for autism.
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25. Esposito G, Nakazawa J, Venuti P, Bornstein MH. {{Componential deconstruction of infant distress vocalizations via tree-based models: A study of cry in autism spectrum disorder and typical development}}. {Research in developmental disabilities}. 2013 Sep;34(9):2717-24.
Understanding early episodes of cry is essential to improve caregiver-child interaction and child well-being. Caregiver perceptions of cry are based on interpretations of different acoustic characteristics of the cry, including the length of the pauses, the number of utterances, and the fundamental frequency. In this study, we used tree-based models to establish a hierarchy of effect in terms of how these acoustic characteristics influence perceptions of cries of children with autism compared to cries of typically developing children. In two studies, one in Italy and the other in Japan, we found that cries of children with autism are perceived more negatively. We also found that the length of the pauses, more than the number of utterances or fundamental frequency, determines listeners’ negative perceptions. Implications for early caregiver-child interactions are discussed.
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26. Freckelton IS. {{Autism Spectrum Disorder: Forensic Issues and Challenges for Mental Health Professionals and Courts}}. {Journal of applied research in intellectual disabilities : JARID}. 2013 Sep;26(5):420-34.
Autism spectrum disorder (ASD), as defined in DSM-V, can be relevant in a variety of ways to decision-making by courts and tribunals. This includes the family, disciplinary, discrimination and criminal law contexts. By reviewing decisions made by superior courts in a number of common law jurisdictions, this article identifies a pivotal role for mental health professionals closely familiar with both the disorder and forensic exigencies to educate courts about the inner world of those with ASD. Highlighting areas of criminality that court decisions have dealt with, especially in relation to persons with Asperger’s Disorder, as defined by DSM-IV, it calls for further research on the connection between ASD, on the one hand, and conduct, capacities and skills, on the other hand. It urges enhancement of awareness of the forensic repercussions of the disorder so that expert evidence can assist the courts more humanely and informedly to make criminal justice and other decisions.
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27. Freeth M, Bullock T, Milne E. {{The distribution of and relationship between autistic traits and social anxiety in a UK student population}}. {Autism}. 2013 Sep;17(5):571-81.
Traits associated with autism and social anxiety were assessed in a UK student population (n = 1325) using the Autism-spectrum Quotient and the Liebowitz Social Anxiety Scale. Clinically relevant levels of autistic traits were observed in 3.3% of the cohort; 10.1% of the cohort reported clinically relevant levels of social anxiety; 1.8% of the cohort met clinically relevant cut-offs for both conditions. There was a significant positive correlation between scores on the two scales (r = .51); students with high levels of autistic traits were more likely to report increased social anxiety than those with average or low levels of autistic traits. Level of social anxiety was best predicted by autistic traits associated with social skill, attention switching and communication, accounting for 33% of the variance in social anxiety scores. Social skill was a better predictor of social anxiety in males than females; attention switching ability was a better predictor of social anxiety in females than males. Students with high levels of autistic traits displayed heightened anxiety to situations and activities necessary for the successful completion of their degree. Implications for student well-being and attainment are discussed.
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28. Froehlich W, Cleveland S, Torres A, Phillips J, Cohen B, Torigoe T, Miller J, Fedele A, Collins J, Smith K, Lotspeich L, Croen LA, Ozonoff S, Lajonchere C, Grether JK, Hallmayer J. {{Head circumferences in twins with and without autism spectrum disorders}}. {J Autism Dev Disord}. 2013 Sep;43(9):2026-37.
To determine the genetic relationship between head circumference (HC) and Autism Spectrum Disorders (ASDs). Twin pairs with at least one twin with an ASD were assessed. HCs in affected and unaffected individuals were compared, as were HC correlations in monozygotic and dizygotic pairs. 404 subjects, ages 4-18, were included. 20 % of males and 27 % of females with an ASD had macrocephaly. Unaffected co-twins showed similar rates (16 % of males and 22 % of females). Statistical analysis revealed no significant difference in HCs between affected and unaffected twins. Twins with ASDs and unaffected co-twins have similar HCs and increased rates of macrocephaly. Correlations demonstrated partial inheritance of HCs. Thus, macrocephaly may represent an endophenotype in ASDs.
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29. Ganz JB, Goodwyn FD, Boles MM, Hong ER, Rispoli MJ, Lund EM, Kite E. {{Impacts of a PECS Instructional Coaching Intervention on Practitioners and Children with Autism}}. {Augmentative and alternative communication (Baltimore, Md : 1985)}. 2013 Sep;29(3):210-21.
Abstract There is a growing research literature on the potential benefits of augmentative and alternative communication (AAC) for individuals with autism; however few studies have investigated implementation of AAC within real-life contexts. Thus, the purpose of this study was to investigate the impact of training for practitioners in implementation of aided AAC, and to examine implementation of Picture Exchange Communication System (PECS) in real-life contexts. In particular, this study involved the implementation of instructional coaching to increase opportunities offered by behavioral therapists for their preschool-aged clients to use PECS to make requests. Results indicated increases in therapist implementation of AAC and client use of AAC in trained contexts, with limited generalization to untrained contexts.
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30. Ghanizadeh A, Berk M, Farrashbandi H, Alavi Shoushtari A, Villagonzalo KA. {{Targeting the mitochondrial electron transport chain in autism, a systematic review and synthesis of a novel therapeutic approach}}. {Mitochondrion}. 2013 Sep;13(5):515-9.
Autism is a complex developmental disorder with an unknown etiology and without any curative treatment. The mitochondrial electron transfer chains play a major role in the production of ATP, and the generation and management of reactive oxidative stress (ROS). This paper is a systematic review of the role of the mitochondrial electron transport chain in autism, and a consequent hypothesis for treating autism is synthesized. An electronic search with pre-specified inclusion criteria was conducted in order to retrieve all the published articles about the mitochondrial electron transport chain in autism. The two databases of PUBMED and Google Scholar were searched. From one hundred twenty five retrieved titles, 12 (three case control study and 9 case reports) articles met inclusion criteria. All of the included studies indicated dysfunction of electron transport chain in autism. The mitochondrial electron transfer chain seems impaired in some children with autism and ROS production is additionally enhanced. It is hypothesized that interventions involving alternative electron shuttling may improve autism through lowering the production of ROS. In addition, it is expected that this alternative electron shuttling to cytochrome c might enhance the production of ATP which is impaired in the disorder.
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31. Grandgeorge M, Lemonnier E, Jallot N. {{Autism spectrum disorders: head circumference and body length at birth are both relative}}. {Acta paediatrica (Oslo, Norway : 1992)}. 2013 Sep;102(9):901-7.
AIM: Although the body length and weight of an infant are related to head circumference, little research on ASDs has examined these factors. Our study compared the head circumferences of neonates who were later diagnosed with ASD with a control group. Additional comparisons on morphological disproportions at birth included the head circumference-to-height and head circumference-to-weight ratios. METHODS: We recruited 422 children with ASD and 153 typically developing children. Head circumference, body length and weight at birth were collected and standardized as percentile scores according to gestational age and gender. RESULTS: Our results revealed that genuine macrocephaly was significantly higher in children with other pervasive developmental disorders compared with the control group. This difference was not observed with regard to genuine microcephaly. Relative macrocephaly and relative microcephaly were significantly more frequent in children with autism disorder compared with the control group with regard to body length. CONCLUSIONS: The differences in relative macrocephaly and microcephaly, as well as in other parameters, between diagnostic subgroups suggest that the presence of several neurological mechanisms plays a role in the later expression of different phenotypes. An increased head circumference-to-body length ratio in newborns may be a factor to follow that could be related to ASD.
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32. Haebig E, McDuffie A, Ellis Weismer S. {{Brief report: parent verbal responsiveness and language development in toddlers on the autism spectrum}}. {J Autism Dev Disord}. 2013 Sep;43(9):2218-27.
This study examined the longitudinal associations between parent verbal responsiveness and language 3 years later in 34 toddlers with a diagnosis of an autism spectrum disorder. Parent-child play samples were coded for child engagement and communication acts and for parent verbal responsiveness. Measures of responsive verbal behaviors were used to predict language gain scores 3 years later. Parent directives for language that followed into the child’s focus of attention were predictive of child receptive language gains. Parent comments that followed into the child’s focus of attention yielded differential effects depending on initial levels of child language. Children who were minimally verbal at age 2(1/2) benefited from parent comments that followed into the their focus of attention, whereas children who were verbally fluent did not demonstrate such a benefit.
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33. Hahn N, Geurten B, Gurvich A, Piepenbrock D, Kastner A, Zanini D, Xing G, Xie W, Gopfert MC, Ehrenreich H, Heinrich R. {{Monogenic heritable autism gene neuroligin impacts Drosophila social behaviour}}. {Behavioural brain research}. 2013 Sep 1;252:450-7.
Autism spectrum disorders (ASDs) are characterized by deficits in social interactions, language development and repetitive behaviours. Multiple genes involved in the formation, specification and maintenance of synapses have been identified as risk factors for ASDs development. Among these are the neuroligin genes which code for postsynaptic cell adhesion molecules that induce the formation of presynapses, promote their maturation and modulate synaptic functions in both vertebrates and invertebrates. Neuroligin-deficient mice display abnormal social and vocal behaviours that resemble ASDs symptoms. Here we show for the fly Drosophila melanogaster that deletion of the dnl2 gene, coding for one of four Neuroligin isoforms, impairs social interactions, alters acoustic communication signals, and affects the transition between different behaviours. dnl2-Deficient flies maintain larger distances to conspecifics and males perform less female-directed courtship and male-directed aggressive behaviours while the patterns of these behaviours and general locomotor activity were not different from wild type controls. Since tests for olfactory, visual and auditory perception revealed no sensory impairments of dnl2-deficient mutants, reduced social interactions seem to result from altered excitability in central nervous neuropils that initiate social behaviours. Our results demonstrate that Neuroligins are phylogenetically conserved not only regarding their structure and direct function at the synapse but also concerning a shared implication in the regulation of social behaviours that dates back to common ancestors of humans and flies. In addition to previously described mouse models, Drosophila can thus be used to study the contribution of Neuroligins to synaptic function, social interactions and their implication in ASDs.
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34. Halbach N, Smeets E, Steinbusch C, Maaskant M, van Waardenburg D, Curfs L. {{Aging in Rett syndrome: a longitudinal study}}. {Clinical genetics}. 2013 Sep;84(3):223-9.
Little is known about the aging process of people with specific syndromes, like Rett syndrome (RTT). Recognition of the clinical and behavioral characteristics of the adult RTT is needed in order to improve future management of the RTT girl and counseling of parents. In association with the Dutch RTT parent association, a 5-year longitudinal study was carried out. The study population consisted of 53 adult women with a clinical diagnosis of RTT. Postal questionnaires were sent, including demographic features, skills, physical and psychiatric morbidity. At the time of the second measurement seven women had died. In 2012, 80% of the questionnaires (37/46) were returned. Mean age of the women was 31.4 years. Molecular confirmation was possible for 83% of the women for whom analyses were carried out. The adult RTT woman has a more or less stable condition. The general disorder profile is that of a slow on-going deterioration of gross motor functioning in contrast to a better preserved cognitive functioning, less autonomic and epileptic features and good general health. This is the first longitudinal cohort study about aging in RTT. Continuing longitudinal studies are needed to gain more insight into the aging process in RTT.
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35. Hodgetts S, Savage A, McConnell D. {{Experience and outcomes of stepping stones triple P for families of children with autism}}. {Research in developmental disabilities}. 2013 Sep;34(9):2572-85.
This study investigated the experience and perceived outcomes of a behavioural family intervention, standard stepping stones triple P (SSTP), for parents of children with autism. An indepth, prospective, mixed-methods, multiple case-study design was employed. Parent participants and SSTP practitioners took part. Participation in SSTP was consistently associated with improved parental self-efficacy, and was also associated with improved parental psychological well-being and decreased perceived need for behavioural services for some families. Three key themes emerged from the qualitative interview data, reflecting changes attributed to participation in SSTP: (1) changes in the « attribution of cause » of misbehaviour, (2) « Who’s the boss? » reflecting a change to parents feeling more in charge of their child’s behaviour, daily routines and choices, and (3) « Rewarding is rewarding! » reflecting appreciation of a positive approach to behaviour management. Practitioners discussed their impressions of appropriate participants, timing, structure, and session preferences for SSTP, and implications related to the professional qualifications of practitioners delivering SSTP. Clinical implications for the use of SSTP with families of children with autism are discussed.
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36. Howlin P. {{Social disadvantage and exclusion: adults with autism lag far behind in employment prospects}}. {Journal of the American Academy of Child and Adolescent Psychiatry}. 2013 Sep;52(9):897-9.
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37. Huang AX, Jia M, Wheeler JJ. {{Children with Autism in the People’s Republic of China: Diagnosis, Legal Issues, and Educational Services}}. {J Autism Dev Disord}. 2013 Sep;43(9):1991-2001.
Since the late 1970s, special education in the People’s Republic of China has experienced significant reform and fast development. However, education for children with severe developmental disabilities, especially autism spectrum disorders (ASDs), is still the greatest challenge in the field. This paper aims to give readers an overview of what is happening to children with ASDs in China. We first address the issue of prevalence of ASDs, and then offer an introduction to the diagnostic process. After that, a review of disability-related legislation is provided, followed by a description of current treatment options and available educational services. Finally we introduce all extent service providers and their roles.
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38. Huke V, Turk J, Saeidi S, Kent A, Morgan JF. {{Autism spectrum disorders in eating disorder populations: a systematic review}}. {European eating disorders review : the journal of the Eating Disorders Association}. 2013 Sep;21(5):345-51.
OBJECTIVE: Empirical research addressing cognitive processing deficits in eating disorders has noted an overlap with autism spectrum disorders. We conducted a systematic review investigating the prevalence of autism spectrum disorder in its entirety in eating disordered populations. METHODS: A comprehensive search for relevant studies was performed on five electronic databases. Studies were not included if solely focused on specific traits of autism spectrum disorders, for instance, theory of mind, set shifting or central coherence. Titles, abstracts and full texts were screened by two members of the research team independently. Quantitative studies published in English were included. RESULTS: A total of eight studies were found to fit the inclusion criteria. Results showed significantly raised prevalence rates of autism spectrum disorder in eating disorder populations compared with those in healthy control participants. DISCUSSION: This discovery has clinical implications and may assist in deciphering poor responses to conventional treatment, facilitating new psychological interventions for eating disorders. Copyright (c) 2013 John Wiley & Sons, Ltd and Eating Disorders Association.
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39. Hwang YS, Weng SF, Cho CY, Tsai WH. {{Higher prevalence of autism in Taiwanese children born prematurely: A nationwide population-based study}}. {Research in developmental disabilities}. 2013 Sep;34(9):2462-8.
The reported prevalence of autism in preterm and full-term children varies partially because of small sample sizes. Moreover, little is known about the specific factors that contribute to the risk of autism in preterm children. We aimed to compare the prevalence of autism in preterm and full-term children and to identify neonatal risk factors for autism in preterm children using a large national health system database. We analyzed data from 1078 early preterm (<28 weeks of gestation or birth weight<1000g), 28,947 later preterm (28-36 weeks), and 1,104,071 full-term (>/=37 weeks) children who were 8-11 years old in 2009. The descending order of prevalence was early preterm (2.2%), later preterm (1.3%), and full-term (0.6%). The prevalence of autism was approximately 2-4 times higher in preterm children than in children born at full-term. The male-female ratio (4:1) in preterm and full-term children was not significantly different. Most of the children were first diagnosed with autism between 3 and 6 years old. Preterm children with autism were not diagnosed earlier than were full-term children. Regression analysis showed that male gender, a very low birth weight, and neonatal cerebral dysfunction were risk factors for autism in the preterm group. We conclude that autism is more prevalent in preterm children. Preventing extremely preterm birth and significant early brain insults may be helpful in reducing the risk of autism in preterm children.
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40. Johnson BP, Phillips JG, Papadopoulos N, Fielding J, Tonge B, Rinehart NJ. {{Understanding macrographia in children with autism spectrum disorders}}. {Research in developmental disabilities}. 2013 Sep;34(9):2917-26.
It has been consistently reported that children with autism spectrum disorders (ASD) show considerable handwriting difficulties, specifically relating to accurate and consistent letter formation, and maintaining appropriate letter size. The aim of this study was to investigate the underlying factors that contribute to these difficulties, specifically relating to motor control. We examined the integrity of fundamental handwriting movements and contributions of neuromotor noise in 26 children with ASD aged 8-13 years (IQ>75), and 17 typically developing controls. Children wrote a series of four cursive letter l’s using a graphics tablet and stylus. Children with ASD had significantly larger stroke height and width, more variable movement trajectory, and higher movement velocities. The absolute level of neuromotor noise in the velocity profiles, as measured by power spectral density analysis, was significantly higher in children with ASD; relatively higher neuromotor noise was found in bands >3Hz. Our findings suggest that significant instability of fundamental handwriting movements, in combination with atypical biomechanical strategies, contribute to larger and less consistent handwriting in children with ASD.
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41. Jones L, Totsika V, Hastings RP, Petalas MA. {{Gender differences when parenting children with autism spectrum disorders: a multilevel modeling approach}}. {J Autism Dev Disord}. 2013 Sep;43(9):2090-8.
Parenting a child with autism may differentially affect mothers and fathers. Existing studies of mother-father differences often ignore the interdependence of data within families. We investigated gender differences within-families using multilevel linear modeling. Mothers and fathers of children with autism (161 couples) reported on their own well-being, and their child’s functioning. Mothers reported higher levels of distress compared with fathers, and child behavior problems predicted psychological distress for both mothers and fathers. We found little evidence of child functioning variables affecting mothers and fathers differently. Gender differences in the impact of child autism on parents appear to be robust. More family systems research is required to fully understand these gender differences and the implications for family support.
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42. Jordan K, King M, Hellersteth S, Wiren A, Mulligan H. {{Feasibility of using a humanoid robot for enhancing attention and social skills in adolescents with autism spectrum disorder}}. {International journal of rehabilitation research Internationale Zeitschrift fur Rehabilitationsforschung Revue internationale de recherches de readaptation}. 2013 Sep;36(3):221-7.
This study investigated the use of robotic technology for promoting attention, communication and social skills in adolescents with autism spectrum disorder (ASD). Attention, communication and social skills were measured while participants played a memory card matching game (Face Match) using (a) a humanoid robot, (b) a Smart Board and (c) playing cards. Three participants with ASD and three with other cognitive impairments were recruited from a secondary school with a special needs unit. Participants were paired such that one of each pair had a diagnosis of ASD and Face Match was played in these pairs for approximately 15 min, with a game organizer present. On 3 separate days, video recordings were made as the participants played Face Match; a different game mode (robot, Smart Board, playing cards) was used each day. A system for categorizing attention, communication and social skills was developed that described 16 subcategories of interactions and intra-actions. In general, participants with ASD showed highly individualized patterns of behaviour in the three different modes. However, repetitive behaviour was reduced in participants with ASD when using both the robot and the Smart Board compared with playing cards. We show that it is feasible to use a robot to assist teaching of social skills to adolescents with ASD, but suggest that the robot features could be further explored and utilized.
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43. Kaland C, Swerts M, Krahmer E. {{Accounting for the listener: Comparing the production of contrastive intonation in typically-developing speakers and speakers with autism}}. {The Journal of the Acoustical Society of America}. 2013 Sep;134(3):2182-96.
The present research investigates what drives the prosodic marking of contrastive information. For example, a typically developing speaker of a Germanic language like Dutch generally refers to a pink car as a « PINK car » (accented words in capitals) when a previously mentioned car was red. The main question addressed in this paper is whether contrastive intonation is produced with respect to the speaker’s or (also) the listener’s perspective on the preceding discourse. Furthermore, this research investigates the production of contrastive intonation by typically developing speakers and speakers with autism. The latter group is investigated because people with autism are argued to have difficulties accounting for another person’s mental state and exhibit difficulties in the production and perception of accentuation and pitch range. To this end, utterances with contrastive intonation are elicited from both groups and analyzed in terms of function and form of prosody using production and perception measures. Contrary to expectations, typically developing speakers and speakers with autism produce functionally similar contrastive intonation as both groups account for both their own and their listener’s perspective. However, typically developing speakers use a larger pitch range and are perceived as speaking more dynamically than speakers with autism, suggesting differences in their use of prosodic form.
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44. Kantzer AK, Fernell E, Gillberg C, Miniscalco C. {{Autism in community pre-schoolers: Developmental profiles}}. {Research in developmental disabilities}. 2013 Sep;34(9):2900-8.
Autism is often a complex developmental disorder. The aim of the present study was to describe the developmental characteristics of 129 1-4-year-old children (102 boys, 27 girls) referred for clinical assessment (mean age 2.9 years) due to suspicion of autism spectrum disorder (ASD) after community screening at Child Health Care centers. All children were clinically assessed at the Child Neuropsychiatry Clinic (CNC) in Gothenburg by a research team (neurodevelopmental examination, structured interviews and general cognitive and language examinations). Of the 129 children, 100 met diagnostic criteria for ASD (69 with autistic disorder, and 31 with atypical autism/pervasive developmental disorder-not otherwise specified). The remaining 29 children had a variety of developmental disorders, most often attention-deficit/hyperactivity disorder (ADHD), language disorder, borderline intellectual functioning, and intellectual developmental disorder (IDD) with (n=25) or without (n=4) autistic traits (AT). IDD was found in 36% of the 100 children with ASD, and in 4% of the 25 children with AT. Of the children with ASD, 56% had language disorder with no or just a few words at the initial assessment at the CNC, many of whom in combination with IDD. Hyperactivity was found in 37% of those with ASD and in 40% of those with AT. Epilepsy was found in 6% of the total group and in 7% of those with a diagnosis of ASD. Of the latter group 11% had a history of regression, while none of the AT cases had a similar background. When results were compared with a non-screened preschool ASD group of 208 children, referred for ASD intervention at a mean age of 3.4 years, very similar developmental profiles were seen. In conclusion, early community ASD screening appears to systematically identify those children who are in need of intervention and follow-up.
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45. Kirkham YA, Allen L, Kives S, Caccia N, Spitzer RF, Ornstein MP. {{Trends in menstrual concerns and suppression in adolescents with developmental disabilities}}. {The Journal of adolescent health : official publication of the Society for Adolescent Medicine}. 2013 Sep;53(3):407-12.
PURPOSE: Demonstrate changes in methods of menstrual suppression in adolescents with developmental disabilities in a recent 5-year cohort compared with an historical cohort at the same hospital. METHODS: Retrospective cohort study of patients with physical and cognitive challenges presenting for menstrual concerns at an Adolescent Gynecology Clinic between 2006 and 2011 compared with a previous published cohort (1998 to 2003). RESULTS: Three hundred patients with developmental disabilities aged 7.3 to 18.5 years (mean 12.1 +/- 1.6) were analyzed. Caregiver concerns included menstrual suppression, hygiene, caregiver burden, and menstrual symptoms. Ninety-five percent of patients had cognitive disabilities, 4.4% had only physical impairments. Thirty-two (31.7) percent of patients presented premenarchally. The most commonly selected initial method of suppression was extended or continuous oral contraceptive pill (OCP) (42.3%) followed by patch (20%), expectant management (14.9%), depot medroxyprogesterone acetate (DMPA) (11.6%), and levonorgestrel intrauterine system (LNG-IUS) (2.8%). Published data from 1998 to 2003 indicated a preference for DMPA in 59% and OCP in 17% of patients. The average number of methods to reach caregiver satisfaction was 1.5. Sixty-five percent of initial methods were continued. The most common reasons for discontinuation were breakthrough bleeding, decreased bone mineral density, or difficulties with patch adherence. Second-choice selections included OCP (42.5%), LNG-IUS inserted under general anesthesia (19.2%), DMPA (17.8%), and patch (13.7%). CONCLUSIONS: Since identification of decreased bone mineral density with DMPA and emergence of new contraceptive options, use of extended OCP or patch has surpassed DMPA for menstrual suppression in our patient population. LNG-IUS is an accepted, successful second-line option in adolescents with developmental disabilities.
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46. Kotte A, Joshi G, Fried R, Uchida M, Spencer A, Woodworth KY, Kenworthy T, Faraone SV, Biederman J. {{Autistic traits in children with and without ADHD}}. {Pediatrics}. 2013 Sep;132(3):e612-22.
OBJECTIVE: To assess the implications of autistic traits (ATs) in youth with attention-deficit/hyperactivity disorder (ADHD) without a diagnosis of autism. METHODS: Participants were youth with (n = 242) and without (n = 227) ADHD and controls without ADHD in whom a diagnosis of autism was exclusionary. Assessment included measures of psychiatric, psychosocial, educational, and cognitive functioning. ATs were operationalized by using the withdrawn + social + thought problems T scores from the Child Behavior Checklist. RESULTS: A positive AT profile was significantly overrepresented among ADHD children versus controls (18% vs 0.87%; P < .001). ADHD children with the AT profile were significantly more impaired than control subjects in psychopathology, interpersonal, school, family, and cognitive domains. CONCLUSIONS: A substantial minority of ADHD children manifests ATs, and those exhibiting ATs have greater severity of illness and dysfunction.
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47. Kube DA, Bishop EA, Roth JM, Palmer FB. {{Evaluation of a parent led curriculum in developmental disabilities for pediatric and medicine/pediatric residents}}. {Maternal and child health journal}. 2013 Sep;17(7):1304-8.
Families of children with special health care needs (CSHCN) want to partner with their physicians to provide family-centered care and a medical home for their children. A parent group independently developed a parent-led curriculum to assist in the training of residents for this purpose. The objective of this study was to evaluate pediatric residents’ satisfaction with and perceived relevance of this parent-led curriculum demonstrating the effects a disability has on the child and family. From 2002 to 2009, 188 residents participated in a parent interview and a home visit with families of CSHCN through Project DOCC(SM) (Delivery of Chronic Care), as part of their required developmental disabilities rotation. Residents voluntarily completed anonymous quantitative surveys regarding the parent interview and home visit, rating the Parent Presenters, Information Provided, Depth of Coverage, Relevance to Future Practice, and Overall Satisfaction. Scores were reported on a Likert scale: 1 = Poor, 2 = Fair, 3 = Satisfactory, 4 = Very Good, and 5 = Excellent. Qualitative comments regarding the residents’ experience on the quality and relevance of the curriculum were also received. 112 (60 %) residents completed the survey for the parent interview and 96 (51 %) for the home visit. Average scores and standard deviations were calculated for each variable. Results for the parent interview: Presenters = 4.76 +/- 0.52, Information = 4.40 +/- 0.73, Depth = 4.59 +/- 0.67, Relevance = 4.47 +/- 0.73, and Satisfaction = 4.64 +/- 0.60. Results for the home visit: Presenters = 4.68 +/- 0.62, Information = 4.25 +/- 0.89, Depth = 4.46 +/- 0.82, Relevance = 4.40 +/- 0.75, and Satisfaction = 4.49 +/- 0.74. The overall experience was favorable with qualitative comments such as: excellent, eye opening, humbling, informative, valuable, and relevant. Pediatric residents rated this parent-led curriculum « very good » to « excellent » overall. Residents were highly satisfied with all areas assessed and felt that it was relevant to their future practices. Parent-led curricula regarding care of children with disabilities can be incorporated into and enhance pediatric resident training programs.
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48. Lai MC, Lombardo MV, Suckling J, Ruigrok AN, Chakrabarti B, Ecker C, Deoni SC, Craig MC, Murphy DG, Bullmore ET, Consortium MA, Baron-Cohen S. {{Biological sex affects the neurobiology of autism}}. {Brain : a journal of neurology}. 2013 Sep;136(Pt 9):2799-815.
In autism, heterogeneity is the rule rather than the exception. One obvious source of heterogeneity is biological sex. Since autism was first recognized, males with autism have disproportionately skewed research. Females with autism have thus been relatively overlooked, and have generally been assumed to have the same underlying neurobiology as males with autism. Growing evidence, however, suggests that this is an oversimplification that risks obscuring the biological base of autism. This study seeks to answer two questions about how autism is modulated by biological sex at the level of the brain: (i) is the neuroanatomy of autism different in males and females? and (ii) does the neuroanatomy of autism fit predictions from the ‘extreme male brain’ theory of autism, in males and/or in females? Neuroanatomical features derived from voxel-based morphometry were compared in a sample of equal-sized high-functioning male and female adults with and without autism (n = 120, n = 30/group). The first question was investigated using a 2 x 2 factorial design, and by spatial overlap analyses of the neuroanatomy of autism in males and females. The second question was tested through spatial overlap analyses of specific patterns predicted by the extreme male brain theory. We found that the neuroanatomy of autism differed between adult males and females, evidenced by minimal spatial overlap (not different from that occurred under random condition) in both grey and white matter, and substantially large white matter regions showing significant sex x diagnosis interactions in the 2 x 2 factorial design. These suggest that autism manifests differently by biological sex. Furthermore, atypical brain areas in females with autism substantially and non-randomly (P < 0.001) overlapped with areas that were sexually dimorphic in neurotypical controls, in both grey and white matter, suggesting neural ‘masculinization’. This was not seen in males with autism. How differences in neuroanatomy relate to the similarities in cognition between males and females with autism remains to be understood. Future research should stratify by biological sex to reduce heterogeneity and to provide greater insight into the neurobiology of autism.
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49. Lindell AK, Hudry K. {{Atypicalities in cortical structure, handedness, and functional lateralization for language in autism spectrum disorders}}. {Neuropsychology review}. 2013 Sep;23(3):257-70.
Language is typically a highly lateralized function, with atypically reduced or reversed lateralization linked to language impairments. Given the diagnostic and prognostic role of impaired language for autism spectrum disorders (ASDs), this paper reviews the growing body of literature that examines patterns of lateralization in individuals with ASDs. Including research from structural and functional imaging paradigms, and behavioral evidence from investigations of handedness, the review confirms that atypical lateralization is common in people with ASDs. The evidence indicates reduced structural asymmetry in fronto-temporal language regions, attenuated functional activation in response to language and pre-linguistic stimuli, and more ambiguous (mixed) hand preferences, in individuals with ASDs. Critically, the evidence emphasizes an intimate relationship between atypical lateralization and language impairment, with more atypical asymmetries linked to more substantive language impairment. Such evidence highlights opportunities for the identification of structural and functional biomarkers of ASDs, affording the potential for earlier diagnosis and intervention implementation.
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50. Lo ST, Siemensma E, Collin P, Hokken-Koelega A. {{Impaired theory of mind and symptoms of Autism Spectrum Disorder in children with Prader-Willi syndrome}}. {Research in developmental disabilities}. 2013 Sep;34(9):2764-73.
In order to evaluate the social cognitive functioning in children with Prader-Willi syndrome (PWS), Theory of Mind (ToM) and symptoms of Autism Spectrum Disorder were evaluated. Sixty-six children with PWS aged 7-17 years were tested using the Theory of Mind test-R and the Diagnostic Interview for Social Communication disorders. We tested the correlation between Total ToM Standard Deviation Score (Total ToM SDS) and genetic subtype of paternal deletion or maternal uniparental disomy, and total IQ, verbal IQ and performal IQ. Prevalence and symptoms of Autism Spectrum Disorder were assessed. Median (interquartile range) of total ToM SDS of those aged 7-17 years was -3.84 (-5.73, -1.57). Their Total ToM SDS correlated with total IQ (beta=0.662, p<0.001, adj.R(2)=0.407), in particular with verbal IQ (beta=0.502, p=0.001, adj.R(2)=0.409), but not with performal IQ (beta=0.241, p>0.05, adj.R(2)=0.259). No difference in Total ToM SDS was found between children with deletion and maternal uniparental disomy (beta=-0.143, p>0.05, adj.R(2)=-0.016). Compared to the reference group of healthy children aged 7-12 years, children with PWS in the same age group had a median ToM developmental delay of 4 (3-5) years. One third of children with PWS scored positive for Autism Spectrum Disorder. Most prominent aberrations in Autism Spectrum Disorder were focused on maladaptive behavior. Our findings demonstrate a markedly reduced level of social cognitive functioning, which has consequences for the approach of children with PWS, i.e. adjustment to the child’s level of social cognitive functioning.
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51. Luiselli JK. {{Descriptive analysis of a staff injury-reduction intervention in a human services setting for children and youth with intellectual and developmental disabilities}}. {Behavior modification}. 2013 Sep;37(5):665-79.
Clinical safety is a dominant concern for human services organizations serving people with intellectual and developmental disabilities (IDD) and high-risk challenging behaviors. This article is a descriptive analysis of components that comprised an injury-reduction intervention among direct-care staff at a specialized school. Using a behavior-based safety approach, intervention was associated with fewer staff injuries and more weeks without injury reports. The article focuses on systems-level strategies and recommendations for future research and practice.
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52. M OH, Sweeney J, Doody O. {{Exploring fathers’ perceptions of parenting a child with Asperger syndrome}}. {Journal of intellectual disabilities : JOID}. 2013 Sep;17(3):198-213.
This study explores Irish fathers’ perceptions of parenting a child with Asperger syndrome (AS). Ethical approval was granted by the service provider, and Husserlian phenomenological approach facilitated the exploration. Data were collected through semi-structured interviews of nine fathers in the West region of Ireland. Data were transcribed and analysed using Colaizzi’s (1978) method. The study highlighted that parenting a child with AS is an arduous task, but while there are difficulties, many positive aspects to their parenting experience were reported. Overall, the study highlights the importance of listening to parents and their initial concerns regarding their child’s development.
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53. Mak-Fan KM, Morris D, Vidal J, Anagnostou E, Roberts W, Taylor MJ. {{White matter and development in children with an autism spectrum disorder}}. {Autism}. 2013 Sep;17(5):541-57.
Recent research suggests that brain development follows an abnormal trajectory in children with autism spectrum disorders (ASD). The current study examined changes in diffusivity with age within defined white matter tracts in a group of typically developing children and a group of children with an ASD, aged 6 to 14 years. Age by group interactions were observed for frontal, long distant, interhemispheric and posterior tracts, for longitudinal, radial and mean diffusivity, but not for fractional anisotropy. In all cases, these measures of diffusivity decreased with age in the typically developing group, but showed little or no change in the ASD group. This supports the hypothesis of an abnormal developmental trajectory of white matter in this population, which could have profound effects on the development of neural connectivity and contribute to atypical cognitive development in children with ASD.
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54. Malesa E, Foss-Feig J, Yoder P, Warren Z, Walden T, Stone WL. {{Predicting language and social outcomes at age 5 for later-born siblings of children with autism spectrum disorders}}. {Autism}. 2013 Sep;17(5):558-70.
The relation between early joint attention (in which a child coordinates attention between another person and an object or event) and later language and social outcomes was examined in younger siblings of children with autism spectrum disorder (Sibs-ASD) and younger siblings of children with typical development (Sibs-TD). Initial levels of joint attention (at a mean age of 15 months) as well as growth in levels of joint attention (between 15 months and 34 months) were used as potential predictors of outcomes at age 5. The results revealed that initial levels of initiating joint attention (IJA) were associated with language skills at outcome. In addition, growth of responding to joint attention (RJA) was associated with social skills at age 5. These patterns of associations were not significantly different between the Sibs-TD and Sibs-ASD groups. Although the Sibs-ASD group had lower joint attention scores than the Sibs-TD group at younger ages, significant group differences were not found for most measures at age 5.
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55. Malhotra S, Subodh BN, Parakh P, Lahariya S. {{Brief report: childhood disintegrative disorder as a likely manifestation of vitamin B12 deficiency}}. {J Autism Dev Disord}. 2013 Sep;43(9):2207-10.
Childhood disintegrative disorder is a rare disorder, characterized by regression of acquired skills after a period of normal development. The case of childhood disintegrative disorder presented here was found to have vitamin B12 deficiency and hyperhomocysteinemia on extensive evaluation to find a probable cause for regression. This case illustrates the need for a thorough evaluation of all cases of childhood disintegrative disorder so that treatable causes of regression, like vitamin B12 deficiency, are not missed.
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56. Mamidala MP, Polinedi A, P TVP, Rajesh N, Vallamkonda OR, Udani V, Singhal N, Rajesh V. {{Prenatal, perinatal and neonatal risk factors of Autism Spectrum Disorder: A comprehensive epidemiological assessment from India}}. {Research in developmental disabilities}. 2013 Sep;34(9):3004-13.
Incidence of Autism Spectrum Disorder (ASD) is increasing across the globe and no data is available from India regarding the risk factors of ASD. In this regard a questionnaire based epidemiological assessment was carried out on prenatal, perinatal and neonatal risk factors of ASD across 8 cities in India. A retrospective cohort of 942 children was enrolled for the study. 471 children with ASD, under age of 10, were analyzed for pre-, peri-, and neonatal factors and were compared with the observations from equal number of controls. The quality control of the questionnaire and data collection was done thoroughly and the observations were computed statistically. A total of 25 factors were evaluated by unadjusted and adjusted analysis in this study. Among the prenatal factors considered, advanced maternal age, fetal distress and gestational respiratory infections were found to be associated with ASD and had an odds ratio of 1.8. Evaluation of perinatal and neonatal risk factors showed labor complications, pre-term birth, neonatal jaundice, delayed birth cry and birth asphyxia to be associated with ASD with an odds ratio greater than 1.5. This important study, first of its kind in Indian population gives a firsthand account of the relation of pre-, peri- and neonatal risk factors on ASD from an ethnically and socially diverse country like India, the impact of which was unknown earlier. This advocates additional focused investigations on physiological and genetic changes contributed by these risk factor inducing environments.
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57. Martin GE, Ausderau KK, Raspa M, Bishop E, Mallya U, Bailey DB, Jr. {{Therapy service use among individuals with fragile X syndrome: findings from a US parent survey}}. {Journal of intellectual disability research : JIDR}. 2013 Sep;57(9):837-49.
Background Fragile X syndrome (FXS) is known to be associated with a range of developmental challenges, yet the occurrence and intensity of therapy services along with associated factors have not been determined. Method In a US national survey, caregivers provided information regarding the therapy services received by their sons (n = 1013) and daughters (n = 283) with FXS (from birth to 63 years; mean = 15.6 years, SD = 10.6). Caregivers reported (1) type, (2) amount, (3) location, and (4) overall satisfaction with services. Associations with other child variables and family income were also examined. Results Key findings included that 72% of males and 47% of females were currently receiving at least one type of therapy service; the most common services for both males and females were speech-language therapy (ST) and occupational therapy (OT). Overall, males were more likely to receive therapy services as well as a greater number of services than females. Autism status was significantly associated with both males and females receiving ST and males receiving OT and behaviour management therapy. Therapies were provided in a variety of locations, and parents were generally satisfied with the amount and quality of therapy services. Age-related declines were evident in the use of services for both males and females, with very few individuals receiving any therapy services after 20 years of age. Conclusions This study provides a baseline description of the current state of therapy services for children with FXS, laying a foundation for future research and recommendations for service provision and policy.
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58. Massand E, Bowler DM, Mottron L, Hosein A, Jemel B. {{ERP Correlates of Recognition Memory in Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2013 Sep;43(9):2038-47.
Recognition memory in autism spectrum disorder (ASD) tends to be undiminished compared to that of typically developing (TD) individuals (Bowler et al. 2007), but it is still unknown whether memory in ASD relies on qualitatively similar or different neurophysiology. We sought to explore the neural activity underlying recognition by employing the old/new word repetition event-related potential effect. Behavioural recognition performance was comparable across both groups, and demonstrated superior recognition for low frequency over high frequency words. However, the ASD group showed a parietal rather than anterior onset (300-500 ms), and diminished right frontal old/new effects (800-1500 ms) relative to TD individuals. This study shows that undiminished recognition performance results from a pattern of differing functional neurophysiology in ASD.
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59. Matson JL, Hattier MA, Belva B, Matson ML. {{Pica in persons with developmental disabilities: Approaches to treatment}}. {Research in developmental disabilities}. 2013 Sep;34(9):2564-71.
Pica is a very serious problem in which an individual ingests substances without nutrition value, such as paper and paint. As this behavior is often life-threatening resulting in surgery, pica has received attention from researchers for several decades. During that time, a number of interventions have been devised, such as behavioral methods (e.g., aversive stimuli, overcorrection, time-out, reinforcement) and biological interventions (e.g., pharmacotherapy, nutritional supplements). This paper is a broad review of the research on treatment studies for this problem, with a focus on persons with autism and/or intellectual disability (ID), which constitutes almost all of the published treatment papers. In addition, strengths and weaknesses of different pica treatments are discussed. Upon review, applied behavior analysis (ABA) was found to have the most robust empirical support to treat this behavior. Most clinicians are drifting away from aversive techniques and relying on more positive procedures to guide their treatment plans. The implications of current status and future directions for research are also addressed.
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60. Matson JL, Rieske RD, Williams LW. {{The relationship between autism spectrum disorders and attention-deficit/hyperactivity disorder: An overview}}. {Research in developmental disabilities}. 2013 Sep;34(9):2475-84.
The autism spectrum has become a highly studied topic, perhaps the most researched of all developmental disorders. A host of related topics are being studied, with one of the most common being comorbidity of autism with other conditions such as epilepsy, sleep, and anxiety disorders. One of the most prevalent of these comorbid conditions is attention-deficit/hyperactivity disorder (AD/HD). A considerable amount of research has appeared on this topic with respect to symptom expression, prevalence of overlap, type of symptom overlap, and the effect of these two conditions co-occurrence on other symptoms and disorders. Given the substantial data base that has accrued, review and synthesis of these data are in order. This is the purpose of the present manuscript.
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61. May T, Rinehart N, Wilding J, Cornish K. {{The role of attention in the academic attainment of children with autism spectrum disorder}}. {J Autism Dev Disord}. 2013 Sep;43(9):2147-58.
Academic attainment in children with Autism Spectrum Disorder (ASD) is under-studied, with associated factors largely undetermined. Parent-reported attention symptoms, attentional-switching and sustained-attention tasks were examined to determine relationships with mathematics and reading attainment in 124 children aged 7-12 years; sixty-four with high-functioning ASD, half girls, and sixty age- and gender-matched typical children (TYP). With full-scale IQ controlled there were no differences in mathematics, reading, attentional switching or sustained attention. In regression analysis, attentional switching was related to mathematics achievement in ASD but not TYP children. Findings highlight attentional switching difficulties are linked with poorer mathematics outcomes in ASD.
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62. McCabe H. {{Bamboo shoots after the rain: Development and challenges of autism intervention in China}}. {Autism}. 2013 Sep;17(5):510-26.
The purpose of this study was to gain an in-depth understanding of autism intervention in China, including history, progress, and current challenges. This qualitative research study included interviews with experienced professionals and observation at autism intervention organizations. Analysis of this empirical data led to three themes regarding this field. First, the development of the field can be described using the Chinese expression, mozhe shitou guohe (feeling stones to cross the river). Owing to limited exposure to outside information, methods are often created independent of research-based best practices. Second, autism intervention in China has had a strong, and until recently, almost exclusive, focus on young children. Finally, there are continued challenges to providing effective services that relate to the desires of parents and professionals to provide ‘more’; a focus on quantity may be preventing a focus on quality. The article concludes with an analysis of the findings and practical implications that may be used by practitioners or scholars planning to do work in China.
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63. McCary LM, Roberts JE. {{Early identification of autism in fragile X syndrome: a review}}. {Journal of intellectual disability research : JIDR}. 2013 Sep;57(9):803-14.
Fragile X syndrome (FXS) is the leading genetic cause of autism, accounting for approximately 5% of autism cases with as many as 50% of individuals with FXS meeting DSM-IV-TR criteria for autistic disorder. Both FXS and idiopathic autism (IA) are attributed to genetic causes; however, FXS is an identified single gene disorder whereas autism is a complex disorder with multiple potential causes, some of which have been identified. Studies in IA have focused on the prospective longitudinal examination of infant siblings of children with autism as a target group due to their high risk of developing the disorder. We propose that this same model be applied to the study of infants with FXS. There is a lack of research focusing on the early development of autism within FXS and debate in the literature regarding how to best conceptualise this co-morbidity or whether it should be considered a co-morbid condition at all. Studying the emergence and stability of autism in infants with FXS has multiple benefits such as clarifying the underlying mechanisms of the development of autism in FXS and solidifying similarities and differences between co-morbid FXS with autism and IA. Infant research in both IA and FXS are discussed as well as conclusions and implications for practice and future research.
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64. McGonigle-Chalmers M, Alderson-Day B, Fleming J, Monsen K. {{Profound expressive language impairment in low functioning children with autism: an investigation of syntactic awareness using a computerised learning task}}. {J Autism Dev Disord}. 2013 Sep;43(9):2062-81.
Nine low-functioning children with profound expressive language impairment and autism were studied in terms of their responsiveness to a computer-based learning program designed to assess syntactic awareness. The children learned to touch words on a screen in the correct sequence in order to see a corresponding animation, such as ‘monkey flies’. The game progressed in levels from 2 to 4 word sequences, contingent upon success at each stage. Although performance was highly variable across participants, a detailed review of their learning profiles suggested that no child lacked syntactic awareness and that elementary syntactic control in a non-speech domain was superior to that manifest in their spoken language. The reasons for production failures at the level of speech in children with autism are discussed.
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65. Meador KJ, Loring DW. {{Prenatal valproate exposure is associated with autism spectrum disorder and childhood autism}}. {The Journal of pediatrics}. 2013 Sep;163(3):922-6.
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66. Murdock LC, Ganz J, Crittendon J. {{Use of an iPad Play Story to Increase Play Dialogue of Preschoolers with Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2013 Sep;43(9):2174-89.
An iPad play story was utilized to increase the pretend play skills of 4 preschoolers with autism spectrum disorders. The story utilized a series of video clips depicting toy figures producing scripted character dialogue, engaged in a pretend play vignette. A multiple baseline design across participants was utilized with play dialogue as the dependent variable. Three of the participants demonstrated increases in the target behavior with Nonoverlap of All Pairs analysis revealing moderate and strong effects across intervention phases. Effects were largely maintained during generalization opportunities with peers and during a 3-week follow-up condition.
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67. Naigles LR, Kelley E, Troyb E, Fein D. {{Residual difficulties with categorical induction in children with a history of autism}}. {J Autism Dev Disord}. 2013 Sep;43(9):2048-61.
In two experiments, typically developing (TD) children, high-functioning children with autism (HFA) and children with a history of autism who have achieved optimal outcomes (OOs), matched on age (M = 13 years) and nonverbal IQ, were asked to extend properties of categories to new items (categorical induction). All groups demonstrated some knowledge of category structure by extending at above-chance levels; however, the TD group extended more consistently than the OO and HFA groups. More consistent extenders had higher lexical and nonverbal IQ scores (Experiment 1) or higher pragmatics scores (Experiment 2). Thus, even very high functioning individuals with autism, or with an OO, still exhibit residual difficulties with category knowledge and extension; moreover, category tasks relate to a variety of verbal and nonverbal abilities. The difficulty these groups had with categorical induction may be related to their difficulty with generalization more widely; future research should investigate this possibility.
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68. Nuske HJ, Vivanti G, Dissanayake C. {{Are emotion impairments unique to, universal, or specific in autism spectrum disorder? A comprehensive review}}. {Cognition & emotion}. 2013 Sep;27(6):1042-61.
There is widespread belief that individuals with Autism Spectrum Disorders (ASDs) are « emotionally detached » from others. This comprehensive review examines the empirical evidence for this assumption, addressing three critical questions: (1) Are emotion-processing impairments universal in ASD? (2) Are they specific, or can they be explained by deficits in other domains? (3) Is the emotion processing profile seen in ASD unique to these conditions? Upon review of the literature (over 200 studies), we conclude that: (1) emotion-processing impairments might not be universal in ASD, as suggested by variability across participants and across emotion-processing tasks; (2) emotion-processing impairments might not be specific to ASD, as domain-general processes appear to account for some of these impairments; and (3) the specific pattern of emotion-processing strengths and weaknesses observed in ASD, involving difficulties with processing social versus non-social, and complex versus simple emotional information (with impairments more consistently reported on implicit than explicit emotion-processing tasks), appears to be unique to ASD. The emotion-processing profile observed in ASD might be best understood as resulting from heterogeneous vulnerabilities in different components of an « emotional communication system » that, in typical development, emerges from the interplay between domain-general cognitive, social and affective processes.
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69. Patriquin MA, Lorenzi J, Scarpa A. {{Relationship between respiratory sinus arrhythmia, heart period, and caregiver-reported language and cognitive delays in children with autism spectrum disorders}}. {Applied psychophysiology and biofeedback}. 2013 Sep;38(3):203-7.
The present study examines the relationship between autonomic activity and cognitive/language delays in children with autism spectrum disorder (ASD). Baseline levels of respiratory sinus arrhythmia (RSA) and heart period (HP) were assessed in 23 4-7-year old children diagnosed with ASD. The relationship between RSA, HP, and ASD behavioral symptoms was examined. Similar to prior studies on typically developing children, lower basal RSA was related to more caregiver-reported language and cognitive delays, and to the lack of language.
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70. Peeters B, Noens I, Philips EM, Kuppens S, Benninga MA. {{Autism spectrum disorders in children with functional defecation disorders}}. {The Journal of pediatrics}. 2013 Sep;163(3):873-8.
OBJECTIVE: To prospectively assess the prevalence of autism spectrum disorder (ASD) symptoms in children presenting with functional defecation disorders. STUDY DESIGN: Children (age 4-12 years) with functional constipation or functional non-retentive fecal incontinence according to the Rome III criteria referred to a specialized outpatient clinic were included. Parents completed 2 validated ASD screening questionnaires about their child; the Social Responsiveness Scale (SRS) and the Social Communication Questionnaire-Lifetime (SCQ-L). A total SRS score of >/=51 is a strong indicator for the presence of ASD. On the SCQ-L, a score of >/=15 is suggestive for ASD. RESULTS: In total, 242 patients (130 males, median age 7.9 years) were included. Of these, 91% were diagnosed with functional constipation and 9% with functional non-retentive fecal incontinence. Thirteen children (5.4%) had previously been diagnosed with ASD. Twenty-six children (11%) had both SRS and SCQ-L scores at or above cutoff points, strongly suggestive for the presence of ASD. Solely high SRS were present in 42 children (17%), whereas two children (1%) only had high SCQ-L scores. Altogether, 29% had ASD symptoms, indicated by SRS and/or SCQ-L scores at or above the cutoff values. These children were older than children without ASD symptoms and presented with a longer duration of symptoms. CONCLUSIONS: A substantial number of children (29%) presenting with a functional defecation disorder at a tertiary hospital has concomitant ASD symptoms. Clinicians should be aware of ASD symptoms in children with functional defecation disorders.
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71. Pickles A, Parr JR, Rutter ML, De Jonge MV, Wallace S, Le Couteur AS, van Engeland H, Wittemeyer K, McConachie H, Roge B, Mantoulan C, Pedersen L, Isager T, Poustka F, Bolte S, Bolton P, Weisblatt E, Green J, Papanikolaou K, Bailey AJ. {{New interview and observation measures of the broader autism phenotype: impressions of interviewee measure}}. {J Autism Dev Disord}. 2013 Sep;43(9):2082-9.
A 20 item observational measure of social functioning, the Impression of Interviewee rating scale, is one of three measures devised to assess the broader autism phenotype. The sample studied included families containing at least two individuals with autism spectrum disorder; observations were undertaken by the researcher who interviewed the subject. An exploratory factor analysis suggested a single factor was most appropriate (Cronbach’s alpha of 0.78). There was a modest but significant retest correlation of 0.42. Correlations between live ratings and blind consensus ratings of vignettes were high (0.93). Correlations with the interview measures were moderate but statistically significant. In conclusion, the observational scale provides a promising start but further work is required before general use can be recommended.
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72. Polderman TJ, Hoekstra RA, Vinkhuyzen AA, Sullivan PF, van der Sluis S, Posthuma D. {{Attentional switching forms a genetic link between attention problems and autistic traits in adults}}. {Psychological medicine}. 2013 Sep;43(9):1985-96.
BACKGROUND: Attention deficit hyperactivity disorder (ADHD) symptoms and autistic traits often occur together. The pattern and etiology of co-occurrence are largely unknown, particularly in adults. This study investigated the co-occurrence between both traits in detail, and subsequently examined the etiology of the co-occurrence, using two independent adult population samples. Method Data on ADHD traits (Inattention and Hyperactivity/Impulsivity) were collected in a population sample (S1, n = 559) of unrelated individuals. Data on Attention Problems (AP) were collected in a population-based family sample of twins and siblings (S2, n = 560). In both samples five dimensions of autistic traits were assessed (social skills, routine, attentional switching, imagination, patterns). RESULTS: Hyperactive traits (S1) did not correlate substantially with the autistic trait dimensions. For Inattention (S1) and AP (S2), the correlations with the autistic trait dimensions were low, apart from a prominent correlation with the attentional switching scale (0.47 and 0.32 respectively). Analyses in the genetically informative S2 revealed that this association could be explained by a shared genetic factor. CONCLUSIONS: Our findings suggest that the co-occurrence of ADHD traits and autistic traits in adults is not determined by problems with hyperactivity, social skills, imagination or routine preferences. Instead, the association between those traits is due primarily to shared attention-related problems (inattention and attentional switching capacity). As the etiology of this association is purely genetic, biological pathways involving attentional control could be a promising focus of future studies aimed at unraveling the genetic causes of these disorders.
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73. Reimer B, Fried R, Mehler B, Joshi G, Bolfek A, Godfrey KM, Zhao N, Goldin R, Biederman J. {{Brief report: examining driving behavior in young adults with high functioning autism spectrum disorders: a pilot study using a driving simulation paradigm}}. {J Autism Dev Disord}. 2013 Sep;43(9):2211-7.
Although it is speculated that impairments associated with autism spectrum disorder (ASD) will adversely affect driving performance, little is known about the actual extent and nature of the presumed deficits. Ten males (18-24 years of age) with a diagnosis of high functioning autism and 10 age matched community controls were recruited for a driving simulation experiment. Driving behavior, skin conductance, heart rate, and eye tracking measurements were collected. The high functioning ASD participants displayed a nominally higher and unvaried heart rate compared to controls. With added cognitive demand, they also showed a gaze pattern suggestive of a diversion of visual attention away from high stimulus areas of the roadway. This pattern deviates from what is presumed to be optimal safe driving behavior and appears worthy of further study.
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74. Reiner P, Taifas I, Massiou H, Jouvent E. {{Pure psychiatric presentation of Fragile X-associated tremor/ataxia syndrome}}. {European journal of neurology : the official journal of the European Federation of Neurological Societies}. 2013 Sep;20(9):e113-4.
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75. Renno P, Wood JJ. {{Discriminant and convergent validity of the anxiety construct in children with autism spectrum disorders}}. {J Autism Dev Disord}. 2013 Sep;43(9):2135-46.
Despite reports of high anxiety in children with autism spectrum disorders (ASD), there is controversy regarding differential diagnosis of ASD symptoms and anxiety symptoms. This study examined 88 children, aged 7-11 years, with ASD referred for concerns about anxiety. A multitrait-(social anxiety, separation anxiety, overall anxiety severity, and overall ASD severity), multimethod-(diagnostic interviews, parent-, and child-based measures) analysis was conducted. Results from structural equation modeling suggest statistical discrimination between anxiety and ASD severity and convergence among differing reports of two of the anxiety subdomains (separation anxiety and overall anxiety). These findings suggest that anxiety symptoms experienced by children with ASD are separate from ASD symptom severity and may instead reflect anxiety syndromes (e.g., separation anxiety) similar to those that occur in typically developing children.
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76. Rodriguez NM, Thompson RH, Stocco CS, Schlichenmeyer K. {{Arranging and ordering in autism spectrum disorder: Characteristics, severity, and environmental correlates}}. {Journal of intellectual & developmental disability}. 2013 Sep;38(3):242-55.
Abstract Background There is a need for a more accurate characterisation of higher level restricted and repetitive behaviour (RRB) in autism spectrum disorder (ASD), including why it might be considered problematic and events associated with its occurrence. Method We selected one form of higher level RRB-arranging and ordering-that was rated as severe for a large percentage of the population sampled. We interviewed 20 students’ teachers and conducted naturalistic observations for 15 of those students. Results The characteristics of arranging and ordering varied across, and sometimes within, individuals. Problems associated with compulsive-like (1) behaviour also varied, with several unanticipated reported problems. With the exception of attention, social consequences were relatively infrequent. Conclusions These data highlight the need for research on the assessment and treatment of arranging and ordering and clinical attention to compulsive-like behaviour in ASD. Interviews and naturalistic observations are useful for structuring additional observations and analyses.
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77. Rosenberg RE, Law JK, Anderson C, Samango-Sprouse C, Law PA. {{Survey of vaccine beliefs and practices among families affected by autism spectrum disorders}}. {Clinical pediatrics}. 2013 Sep;52(9):871-4.
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78. Roux AM, Shattuck PT, Cooper BP, Anderson KA, Wagner M, Narendorf SC. {{Postsecondary employment experiences among young adults with an autism spectrum disorder}}. {Journal of the American Academy of Child and Adolescent Psychiatry}. 2013 Sep;52(9):931-9.
OBJECTIVE: We examined postsecondary employment experiences of young adults with an autism spectrum disorder (ASD) and compared these outcomes with those of young adults with different disabilities. METHOD: Data were from Wave 5 of the National Longitudinal Transition Study-2 (NLTS2), a nationally representative survey of young adults who had received special education services during high school. We examined the prevalence of ever having had, and currently having, a paid job at 21 to 25 years of age. We analyzed rates of full-time employment, wages earned, number of jobs held since high school, and job types. RESULTS: Approximately one-half (53.4%) of young adults with an ASD had ever worked for pay outside the home since leaving high school, the lowest rate among disability groups. Young adults with an ASD earned an average of $8.10 per hour, significantly lower than average wages for young adults in the comparison groups, and held jobs that clustered within fewer occupational types. Odds of ever having had a paid job were higher for those who were older, from higher-income households, and with better conversational abilities or functional skills. CONCLUSIONS: Findings of worse employment outcomes for young adults with an ASD suggest that this population is experiencing particular difficulty in successfully transitioning into employment. Research is needed to determine strategies for improving outcomes as these young adults transition into adulthood.
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79. Ruble LA, Toland MD, Birdwhistell JL, McGrew JH, Usher EL. {{Preliminary Study of the Autism Self-Efficacy Scale for Teachers (ASSET)}}. {Res Autism Spectr Disord}. 2013 Sep;7(9):1151-9.
The purpose of the current study was to evaluate a new measure, the Autism Self-Efficacy Scale for Teachers (ASSET) for its dimensionality, internal consistency, and construct validity derived in a sample of special education teachers (N = 44) of students with autism. Results indicate that all items reflect one dominant factor, teachers’ responses to items were internally consistent within the sample, and compared to a 100-point scale, a 6-point response scale is adequate. ASSET scores were found to be negatively correlated with scores on two subscale measures of teacher stress (i.e., self-doubt/need for support and disruption of the teaching process) but uncorrelated with teacher burnout scores. The ASSET is a promising tool that requires replication with larger samples.
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80. Sgado P, Genovesi S, Kalinovsky A, Zunino G, Macchi F, Allegra M, Murenu E, Provenzano G, Tripathi PP, Casarosa S, Joyner AL, Bozzi Y. {{Loss of GABAergic neurons in the hippocampus and cerebral cortex of Engrailed-2 null mutant mice: Implications for autism spectrum disorders}}. {Experimental neurology}. 2013 Sep;247:496-505.
The homeobox-containing transcription factor Engrailed-2 (En2) is involved in patterning and neuronal differentiation of the midbrain/hindbrain region, where it is prominently expressed. En2 mRNA is also expressed in the adult mouse hippocampus and cerebral cortex, indicating that it might also function in these brain areas. Genome-wide association studies revealed that En2 is a candidate gene for autism spectrum disorders (ASD), and mice devoid of its expression (En2(-/-) mice) display anatomical, behavioral and clinical « autistic-like » features. Since reduced GABAergic inhibition has been proposed as a possible pathogenic mechanism of ASD, we hypothesized that the phenotype of En2(-/-) mice might include defective GABAergic innervation in the forebrain. Here we show that the Engrailed proteins are present in postnatal GABAergic neurons of the mouse hippocampus and cerebral cortex, and adult En2(-/-) mice show reduced expression of GABAergic marker mRNAs in these areas. In addition, reduction in parvalbumin (PV), somatostatin (SOM) and neuropeptide Y (NPY) expressing interneurons is detected in the hippocampus and cerebral cortex of adult En2(-/-) mice. Our results raise the possibility of a link between altered function of En2, anatomical deficits of GABAergic forebrain neurons and the pathogenesis of ASD.
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81. Sharp WG, Berry RC, McCracken C, Nuhu NN, Marvel E, Saulnier CA, Klin A, Jones W, Jaquess DL. {{Feeding Problems and Nutrient Intake in Children with Autism Spectrum Disorders: A Meta-analysis and Comprehensive Review of the Literature}}. {J Autism Dev Disord}. 2013 Sep;43(9):2159-73.
We conducted a comprehensive review and meta-analysis of research regarding feeding problems and nutrient status among children with autism spectrum disorders (ASD). The systematic search yielded 17 prospective studies involving a comparison group. Using rigorous meta-analysis techniques, we calculated the standardized mean difference (SMD) with standard error and corresponding odds ratio (OR) with 95 % confidence intervals (CI). Results indicated children with ASD experienced significantly more feeding problems versus peers, with an overall SMD of 0.89 (0.08) and a corresponding OR of 5.11, 95 % CI 3.74-6.97. Nutrient analyses indicated significantly lower intake of calcium (SMD: -0.65 [0.29]; OR: 0.31, 95 % CI 0.11-0.85) and protein (SMD: -0.58 [0.25]; OR: 0.35, 95 % CI: 0.14-0.56) in ASD. Future research must address critical questions regarding the cause, long-term impact, and remediation of atypical feeding in this population.
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82. Shen MD, Nordahl CW, Young GS, Wootton-Gorges SL, Lee A, Liston SE, Harrington KR, Ozonoff S, Amaral DG. {{Early brain enlargement and elevated extra-axial fluid in infants who develop autism spectrum disorder}}. {Brain : a journal of neurology}. 2013 Sep;136(Pt 9):2825-35.
Prospective studies of infants at risk for autism spectrum disorder have provided important clues about the early behavioural symptoms of autism spectrum disorder. Diagnosis of autism spectrum disorder, however, is not currently made until at least 18 months of age. There is substantially less research on potential brain-based differences in the period between 6 and 12 months of age. Our objective in the current study was to use magnetic resonance imaging to identify any consistently observable brain anomalies in 6-9 month old infants who would later develop autism spectrum disorder. We conducted a prospective infant sibling study with longitudinal magnetic resonance imaging scans at three time points (6-9, 12-15, and 18-24 months of age), in conjunction with intensive behavioural assessments. Fifty-five infants (33 ‘high-risk’ infants having an older sibling with autism spectrum disorder and 22 ‘low-risk’ infants having no relatives with autism spectrum disorder) were imaged at 6-9 months; 43 of these (27 high-risk and 16 low-risk) were imaged at 12-15 months; and 42 (26 high-risk and 16 low-risk) were imaged again at 18-24 months. Infants were classified as meeting criteria for autism spectrum disorder, other developmental delays, or typical development at 24 months or later (mean age at outcome: 32.5 months). Compared with the other two groups, infants who developed autism spectrum disorder (n = 10) had significantly greater extra-axial fluid at 6-9 months, which persisted and remained elevated at 12-15 and 18-24 months. Extra-axial fluid is characterized by excessive cerebrospinal fluid in the subarachnoid space, particularly over the frontal lobes. The amount of extra-axial fluid detected as early as 6 months was predictive of more severe autism spectrum disorder symptoms at the time of outcome. Infants who developed autism spectrum disorder also had significantly larger total cerebral volumes at both 12-15 and 18-24 months of age. This is the first magnetic resonance imaging study to prospectively evaluate brain growth trajectories from infancy in children who develop autism spectrum disorder. The presence of excessive extra-axial fluid detected as early as 6 months and the lack of resolution by 24 months is a hitherto unreported brain anomaly in infants who later develop autism spectrum disorder. This is also the first magnetic resonance imaging evidence of brain enlargement in autism before age 2. These findings raise the potential for the use of structural magnetic resonance imaging to aid in the early detection of children at risk for autism spectrum disorder or other neurodevelopmental disorders.
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83. Siegel M, Milligan B, Stein H, Teer O, Smith KA. {{Telephone administration of the aberrant behavior checklist: A pilot study of feasibility in children with intellectual disability and autism}}. {Journal of intellectual disabilities : JOID}. 2013 Sep;17(3):265-71.
To advance clinical care and research in children with intellectual disability and autism there is a growing need for efficient means to measure behavioral severity and response to treatment. The objective of this study was to assess the feasibility of telephone administration of the Aberrant Behavior Checklist-Irritability Subscale (ABC-I). The ABC-I was administered by telephone to the primary caregivers of 39 subjects with intellectual disability and/or autism. The same primary caregiver of each subject was also mailed a written copy of the ABC-I with a self-addressed, stamped envelope. Scores obtained by telephone and written administration were highly correlated (r = 0.827, p < 0.001). Telephone administration of the ABC-I may be a feasible and efficient means of determining response to treatment in children with intellectual disability and/or autism, though these pilot findings need to be replicated in a larger sample.
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84. So P, Greaves-Lord K, van der Ende J, Verhulst FC, Rescorla L, de Nijs PF. {{Using the Child Behavior Checklist and the Teacher’s Report Form for identification of children with autism spectrum disorders}}. {Autism}. 2013 Sep;17(5):595-607.
This study evaluated the ability of the Child Behavior Checklist and the Teacher’s Report Form to identify children with autism spectrum disorders (ASD), using a sample of children with ASD (n = 458), referred children without ASD (n = 1109) and children from the general population (n = 999). A ten items ASD scale was constructed using half of the sample and the ability of this scale to discriminate between children with ASD and the other children was tested for the CBCL and the TRF separately and together in the other half of the sample. Using a cut-off score of 8 the combined CBCL/TRF ASD scale demonstrated high predictive values (NPV 95%, PPV 73%) in identifying children with ASD and children in the general population sample. This might be an acceptable percentage of false positives in general screening, considering the chance that these children might have other behavioural, emotional, and developmental problems which also need psychiatric evaluation. In the referred population, using a cut-off of 13, PPV was 49% and NPV was 85%. The high NPV indicates that in a referred population the scale is especially good at identifying children who do not need evaluation with a more ASD-specific instrument.
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85. Suren P, Stoltenberg C, Bresnahan M, Hirtz D, Lie KK, Lipkin WI, Magnus P, Reichborn-Kjennerud T, Schjolberg S, Susser E, Oyen AS, Li L, Hornig M. {{Early growth patterns in children with autism}}. {Epidemiology (Cambridge, Mass)}. 2013 Sep;24(5):660-70.
BACKGROUND: Case-control studies have found increased head growth during the first year of life in children with autism spectrum disorder. Length and weight have not been as extensively studied, and there are few studies of population-based samples. METHODS: The study was conducted in a sample of 106,082 children from the population-based Norwegian Mother and Child Cohort. The children were born in 1999-2009; by the end of follow-up on 31 December 2012, the age range was 3.6 through 13.1 years (mean 7.4 years). Measures were obtained prospectively until age 12 months for head circumference and 36 months for length and weight. We compared growth trajectories in autism spectrum disorder cases and noncases using Reed first-order models. RESULTS: Subjects included 376 children (310 boys and 66 girls) with specialist-confirmed autism spectrum disorder. In boys with autism spectrum disorder, mean head growth was similar to that of other boys, but variability was greater, and 8.7% had macrocephaly (head circumference >97th cohort percentile) by 12 months of age. Autism spectrum disorder boys also had slightly increased body growth, with mean length 1.1 cm above and mean weight 300 g above the cohort mean for boys at age 12 months. Throughout the first year, the head circumference of girls with autism spectrum disorder was reduced-by 0.3 cm at birth and 0.5 cm at 12 months. Their mean length was similar to that of other girls, but their mean weight was 150-350 g below at all ages from birth to 3 years. The reductions in mean head circumference and weight in girls with autism spectrum disorder appear to be driven by those with intellectual disability, genetic disorders, and epilepsy. DISCUSSION: Growth trajectories in children with autism spectrum disorder diverge from those of other children and the differences are sex specific. Previous findings of increased mean head growth were not replicated.
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86. Teng BL, Nonneman RJ, Agster KL, Nikolova VD, Davis TT, Riddick NV, Baker LK, Pedersen CA, Jarstfer MB, Moy SS. {{Prosocial effects of oxytocin in two mouse models of autism spectrum disorders}}. {Neuropharmacology}. 2013 Sep;72:187-96.
Clinical evidence suggests that oxytocin treatment improves social deficits and repetitive behavior in autism spectrum disorders (ASDs). However, the neuropeptide has a short plasma half-life and poor ability to penetrate the blood-brain barrier. In order to facilitate the development of more bioavailable oxytocinergic compounds as therapeutics to treat core ASD symptoms, small animal models must be validated for preclinical screens. This study examined the preclinical utility of two inbred mouse strains, BALB/cByJ and C58/J, that exhibit phenotypes relevant to core ASD symptoms. Mice from both strains were intraperitoneally administered oxytocin, using either acute or sub-chronic regimens. Acute oxytocin did not increase sociability in BALB/cByJ; however, sub-chronic oxytocin had significant prosocial effects in both BALB/cByJ and C58/J. Increased sociability was observed 24 h following the final oxytocin dose in BALB/cByJ, while prosocial effects of oxytocin emerged 1-2 weeks post-treatment in C58/J. Furthermore, acute oxytocin decreased motor stereotypy in C58/J and did not induce hypoactivity or anxiolytic-like effects in an open field test. This study demonstrates that oxytocin administration can attenuate social deficits and repetitive behavior in mouse models of ASD, dependent on dose regimen and genotype. These findings provide validation of the BALB/cByJ and C58/J models as useful platforms for screening novel drugs for intervention in ASDs and for elucidating the mechanisms contributing to the prosocial effects of oxytocin.
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87. Thistle JJ, Wilkinson KM. {{Working memory demands of aided augmentative and alternative communication for individuals with developmental disabilities}}. {Augmentative and alternative communication (Baltimore, Md : 1985)}. 2013 Sep;29(3):235-45.
Abstract When speech is not functional to meet some or all of an individual’s communication needs, aided augmentative and alternative communication (AAC) systems are often implemented. Although aided AAC systems offer some advantages over speech, they also impose some unique demands, especially on working memory, which is commonly defined as the cognitive system by which individuals maintain and manipulate information while completing tasks. For instance, the presence of an external aided AAC device containing arrays of symbols, not all of which are visible simultaneously, presents multiple working memory demands: individuals must maintain the target concepts in mind, all the while (a) navigating through multiple pages, (b) remembering the appropriate or most efficient navigation path, (c) locating the target symbols within the array once the host page has been located, and (d) inhibiting responses to potentially interesting distracters throughout the process. Each of these task demands involves one or more working memory operations that have been identified and studied extensively in research in the cognitive sciences. Failure to acknowledge or understand how working memory might interact with AAC use may place unintentional barriers to effective AAC interventions. This paper explores current information about working memory operations and highlights some of the most relevant issues that warrant further direct study.
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88. Tozer R, Atkin K, Wenham A. {{Continuity, commitment and context: adult siblings of people with autism plus learning disability}}. {Health & social care in the community}. 2013 Sep;21(5):480-8.
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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89. 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}}. {Augmentative and alternative communication (Baltimore, Md : 1985)}. 2013 Sep;29(3):222-34.
Abstract 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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90. van Wijngaarden E, Davidson PW, Smith TH, Evans K, Yost K, Love T, Thurston SW, Watson GE, Zareba G, Burns CM, Shamlaye CF, Myers GJ. {{Autism Spectrum Disorder Phenotypes and Prenatal Exposure to Methylmercury}}. {Epidemiology (Cambridge, Mass)}. 2013 Sep;24(5):651-9.
BACKGROUND:: There continues to be public concern that mercury exposure and autism spectrum disorder (ASD) may be associated. The primary source of exposure to organic mercury in humans is to methylmercury from fish consumption. We evaluated the association between prenatal methylmercury exposure and ASD phenotype in children and adolescents in the Republic of Seychelles, where fish consumption is high. METHODS:: We administered the Social Communication Questionnaire to parents of a cohort of 1784 children, adolescents, and young adults. The Social Responsiveness Scale was administered to teachers of 537 cohort subjects at about 10 years of age. Prenatal exposure to methylmercury was measured in maternal hair samples collected at or near the time of birth. Multivariable regression models evaluated the relationship between prenatal methylmercury exposure and ASD phenotypic scores, adjusting for relevant covariates. RESULTS:: The mean prenatal methylmercury exposure for subjects in the analysis was 8.4 ppm (standard deviation [SD] = 5.7). The mean Social Communication Questionnaire score was 8.0 (SD = 4.4). The mean prenatal methylmercury exposure for subjects with Social Responsiveness Scale scores was 6.7 ppm (SD = 4.4) and the mean Social Responsiveness Scale score was 57.6 (SD = 26.8). No consistent association between prenatal methylmercury exposure and ASD screening instrument was found, using linear and nonlinear regression analyses. CONCLUSIONS:: Prenatal exposure to methylmercury was not associated with ASD phenotypic behaviors in our cohort of high fish consumers. Our findings contribute to the growing literature suggesting that exposure to methylmercury does not play an important role in the development of ASD phenotypic behavior.
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91. Vogt T, Schneider S, Anneken V, Struder HK. {{Moderate cycling exercise enhances neurocognitive processing in adolescents with intellectual and developmental disabilities}}. {Research in developmental disabilities}. 2013 Sep;34(9):2708-16.
Research has shown that physical exercise enhances cognitive performance in individuals with intact cognition as well as in individuals diagnosed with intellectual and developmental disabilities. Although well identified in the field of health (for example, the transient hypofrontality theory), the underlying neurocognitive processes in intellectual and developmental disabilities remain widely unclear and thus characterize the primary aim of this research. Eleven adolescents with intellectual and developmental disabilities performed moderate cycling exercise and common relaxation. Cross-over designed, both 10-min meetings were randomly allocated at the same time of day with 24-h time lags in between. Conditions were embedded in ability-modified cognitive performance (decision-making processes). Participants’ reaction times and their equivalent neurophysiological parameters were recorded using standard EEG and analyzed (spatial activity, N2). Exercise revealed a decrease in frontal electrocortical activity, most pronounced in the medial frontal gyrus (10%). To that effect, reaction time (p<0.01) was decreased and mirrored in decreased N2 latency (p<0.01) after exercise. In contrast, relaxation revealed no significant changes. Results of this research suggest exercise temporarily enhances neuronal activity in relation to cognitive performance for adolescents with intellectual and developmental disabilities; further research is needed to explore possible future effects on enhancing neurocognitive development.
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92. Wachtel LE, Shorter E. {{Autism plus psychosis: A ‘one-two punch’ risk for tragic violence?}}. {Medical hypotheses}. 2013 Sep;81(3):404-9.
In the recent series of mass murders in Connecticut, Colorado, Norway and elsewhere, a pattern appears to emerge: young men whose social isolation borders on autism apparently become prey to psychotic ideation, and under its influence commit horrific violence. We argue that in some of these tragic cases two concomitant diagnoses may be at play, namely autism and psychosis. Autism itself is not an intrinsically violent disorder, and individuals with autism spectrum disorder (ASD) are no more prone to violent behaviors than the general population. The additional presence of psychotic illness, however, may dramatically change the picture. Based on an examination of historical and contemporary data regarding psychosis and violence in patients without developmental disability we explore three points relevant to the possibility of violence in individuals with comorbid ASD and psychosis. (1) Individuals with ASD have an elevated risk of comorbid psychopathology, including psychosis, which is strongly associated with violence. (2) The content of psychotic ideation has become increasingly violent and lethal in recent decades. (3) It is possible that individuals with ASD are readier than others to act on psychotic impulses. We conclude that there may be a kind of one-two ‘vulnerability punch,’ giving individuals with ASD a baseline higher risk of comorbid psychiatric illness, not infrequently including psychosis. Recognizing the increased susceptibility of individuals with autism other neurodevelopmental disability to concomitant psychotic illness increases the possibility that they can be correctly identified and treated, mitigating tragic outcomes.
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93. Ward SC, Whalon K, Rusnak K, Wendell K, Paschall N. {{The association between therapeutic horseback riding and the social communication and sensory reactions of children with autism}}. {J Autism Dev Disord}. 2013 Sep;43(9):2190-8.
This study investigated the association between therapeutic riding (TR) and the social communication and sensory processing skills of 21 elementary students with autism attending TR as part of a school group. An interrupted treatment design was employed to determine whether children were able to maintain treatment effects following the removal of TR. Teacher ratings indicated that participating children with autism significantly increased their social interaction, improved their sensory processing, and decreased the severity of symptoms associated with autism spectrum disorders following TR. Gains were not maintained consistently after two 6-week breaks from TR, but were recovered once TR was reinstated. Potential explanations regarding the benefits of TR are discussed, and suggestions for future research provided.
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94. Wiggins LD, Robins DL, Yeargin-Allsopp M. {{Short report: Improving record-review surveillance of young children with an autism spectrum disorder}}. {Autism}. 2013 Sep;17(5):623-9.
Introduction: Records-based autism spectrum disorder surveillance developed at the Centers for Disease Control and Prevention has been extended to younger cohorts, although the utility of additional record sources has not been examined. We therefore conducted a pilot project to describe whether Centers for Disease Control and Prevention surveillance could identify younger children with an autism spectrum disorder evaluated as part of an ongoing screening study at Georgia State University. Methods: In all, 31 families of children who screened positive for autism spectrum disorder and received a clinical evaluation at Georgia State University agreed to participate in the project. Of these, 10 children lived inside the surveillance area and had records abstracted and reviewed for this project. Centers for Disease Control and Prevention surveillance results (i.e. autism spectrum disorder or non-autism spectrum disorder) were compared with Georgia State University evaluation results (i.e. autism spectrum disorder or non-autism spectrum disorder). Results: In all, 4 of the 10 children were diagnosed with an autism spectrum disorder after the Georgia State University evaluation. None of the 4 children with an autism spectrum disorder were identified by current Centers for Disease Control and Prevention surveillance methods but all 4 children were identified by Centers for Disease Control and Prevention surveillance methods when additional record sources were included (i.e. records from the statewide early intervention program and Georgia State University evaluation). Conclusion: These findings suggest that partnering with early intervention programs and encouraging early autism spectrum disorder screening might improve autism spectrum disorder surveillance among young children.
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95. Winburn E, Charlton J, McConachie H, McColl E, Parr J, O’Hare A, Baird G, Gringras P, Wilson DC, Adamson A, Adams S, Le Couteur A. {{Parents’ and Child Health Professionals’ Attitudes Towards Dietary Interventions for Children with Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2013 Sep 1.
Parents of children with autism spectrum disorders (ASD) use a wide range of interventions including poorly evidenced dietary interventions. To investigate parents’ and professionals’ experience of dietary interventions and attitudes towards a proposed trial to evaluate the gluten free casein free diet (GFCFD). Survey of UK parents of children with ASD, and professionals. 258 parents and 244 professionals participated. 83 % of children had received a range of dietary manipulations; three quarters of professionals have been asked for advice about GFCFD. Respondents identified an inadequate evidence base for dietary interventions in ASD and suggested modifications to a proposed trial design. Both parents and professionals supported the need for further evaluation of dietary interventions in ASD.
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96. Xu D, Shen W, Guo R, Xue Y, Peng W, Sima J, Yang J, Sharov A, Srikantan S, Yang J, Fox D, 3rd, Qian Y, Martindale JL, Piao Y, Machamer J, Joshi SR, Mohanty S, Shaw AC, Lloyd TE, Brown GW, Ko MS, Gorospe M, Zou S, Wang W. {{Top3beta is an RNA topoisomerase that works with fragile X syndrome protein to promote synapse formation}}. {Nature neuroscience}. 2013 Sep;16(9):1238-47.
Topoisomerases are crucial for solving DNA topological problems, but they have not been linked to RNA metabolism. Here we show that human topoisomerase 3beta (Top3beta) is an RNA topoisomerase that biochemically and genetically interacts with FMRP, a protein that is deficient in fragile X syndrome and is known to regulate the translation of mRNAs that are important for neuronal function, abnormalities of which are linked to autism. Notably, the FMRP-Top3beta interaction is abolished by a disease-associated mutation of FMRP, suggesting that Top3beta may contribute to the pathogenesis of mental disorders. Top3beta binds multiple mRNAs encoded by genes with neuronal functions linked to schizophrenia and autism. Expression of one such gene, that encoding protein tyrosine kinase 2 (ptk2, also known as focal adhesion kinase or FAK), is reduced in the neuromuscular junctions of Top3beta mutant flies. Synapse formation is defective in Top3beta mutant flies and mice, as well as in FMRP mutant flies and mice. Our findings suggest that Top3beta acts as an RNA topoisomerase and works with FMRP to promote the expression of mRNAs that are crucial for neurodevelopment and mental health.
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97. Yang DY, Baillargeon R. {{Brief report: difficulty in understanding social acting (but not false beliefs) mediates the link between autistic traits and ingroup relationships}}. {J Autism Dev Disord}. 2013 Sep;43(9):2199-206.
Why do individuals with more autistic traits experience social difficulties? Here we examined the hypothesis that these difficulties stem in part from a challenge in understanding social acting, the prosocial pretense that adults routinely produce to maintain positive relationships with their ingroup. In Study 1, we developed a self-administered test of social-acting understanding: participants read stories in which a character engaged in social acting and rated the appropriateness of the character’s response. Adults who scored 26 or higher on the Autism Spectrum Quotient (AQ) questionnaire gave significantly lower ratings than comparison participants (AQ < 26). Study 2 found that difficulty in understanding social acting, but not false beliefs, mediated the link between autistic traits and perceived ingroup relationships.
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98. Zuckerman KE, Mattox K, Donelan K, Batbayar O, Baghaee A, Bethell C. {{Pediatrician identification of latino children at risk for autism spectrum disorder}}. {Pediatrics}. 2013 Sep;132(3):445-53.
BACKGROUND AND OBJECTIVES: Latino-white disparities in age at autism spectrum disorder (ASD) diagnosis may be modified by primary care pediatrician (PCP) practices and beliefs. The objectives of this study were to assess ASD and developmental screening practices, attitudes toward ASD identification in Latino children, and barriers to ASD identification for Latino children, in a sample of 267 California PCPs. METHODS: In mail-based PCP survey, we assessed rates of bilingual general developmental and ASD screening, perceptions of parent ASD knowledge in Latino and white families, reports of difficulty assessing for ASDs in Latino and white children, and perceptions of barriers to early ASD identification for Latinos. RESULTS: Although 81% of PCPs offered some form of developmental screening, 29% of PCPs offered Spanish ASD screening per American Academy of Pediatrics guidelines, and only 10% offered both Spanish general developmental and Spanish ASD screening per American Academy of Pediatrics guidelines. Most PCPs thought that Latino (English and Spanish primary family language) parents were less knowledgeable about ASDs than white parents. PCPs had more difficulty assessing ASD risk for Latino children with Spanish primary family language than for white children, even when the PCP conducted recommended ASD screening or had >25% Latino patients. The most frequent barrier to ASD identification in Latinos was access to developmental specialists. CONCLUSIONS: Multiple factors in the primary care setting may contribute to delayed ASD identification for Latinos. Promoting language-appropriate screening, disseminating culturally appropriate ASD materials to Latino families, improving the specialist workforce, and providing PCP support in screening and referral of Latino children may be important ways to reduce racial and ethnic differences in care.
