1. Aguilar JM, White PJ, Fragale C, Chan JM. {{Preference for language of instruction of an English language learner with autism}}. {Developmental neurorehabilitation}. 2015 Aug 19:1-4.
OBJECTIVE: To use a preference assessment to identify the preferred language of instruction (English or Spanish) for a child with autism living in a Spanish-speaking home and receiving school services in English only. METHODS: We used a concurrent chains method to evaluate the participant’s preference for English or Spanish instruction. Colored microswitches represented English instruction, Spanish instruction and no instruction (control). Switch presses resulted in instruction and reinforcement in either English or Spanish, or no instruction and no reinforcement. After session 10, switches were reprogrammed to control for color bias. RESULTS: The participant chose Spanish instruction most frequently. CONCLUSIONS: The participant preferred to receive instruction in Spanish. These data support previous research indicating the importance of child preference when individualizing educational programs for children with autism and that language of instruction is an important variable when working with children with autism who experience multiple languages across home and school.
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2. Barone R, Sturiale L, Fiumara A, Palmigiano A, Bua RO, Rizzo R, Zappia M, Garozzo D. {{CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder}}. {Autism research : official journal of the International Society for Autism Research}. 2015 Aug 19.
Protein N-glycosylation consists in the synthesis and processing of the oligosaccharide moiety (N-glycan) linked to a protein and it serves several functions for the proper central nervous system (CNS) development and function. Previous experimental and clinical studies have shown the importance of proper glycoprotein sialylation for the synaptic function and the occurrence of autism spectrum disorders (ASD) in the presence of sialylation deficiency in the CNS. Late-onset Tay Sachs disease (LOTSD) is a lysosomal disorder caused by mutations in the HEXA gene resulting in GM2-ganglioside storage in the CNS. It is characterized by progressive neurological impairment and high co-occurrence of psychiatric disturbances. We studied the N-glycome profile of the cerebrospinal fluid (CSF) in a 14 year-old patient with GM2-gangliosidosis (LOTSD). At the age of 4, the patient presented regressive autism fulfilling criteria for childhood disintegrative disorder (CDD). A CSF sample was obtained in the course of diagnostic work-up for the suspicion of an underlying neurodegenerative disorder. We found definite changes of CSF N-glycans due to a dramatic decrease of sialylated biantennary and triantennary structures and an increase of asialo-core fucosylated bisected N-glycans. No changes of total plasma N-glycans were found. Herein findings highlight possible relationships between the early onset psychiatric disturbance featuring CDD in the patient and defective protein sialylation in the CNS. In conclusion, the study first shows aberrant N-glycan structures of CSF proteins in LOTSD; unveils possible pathomechanisms of GM2-gangliosidosis; supports existing relationships between neuropsychiatric disorders and unproper protein glycosylation in the CNS. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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3. Carr T, Shih W, Lawton K, Lord C, King B, Kasari C. {{The relationship between treatment attendance, adherence, and outcome in a caregiver-mediated intervention for low-resourced families of young children with autism spectrum disorder}}. {Autism}. 2015 Aug 19.
Rates of participation in intervention research have not been extensively studied within autism spectrum disorder. Such research is important given the benefit of early intervention on long-term prognosis for children with autism spectrum disorder. The goals of this study were to examine how family demographic factors predicted treatment attendance and adherence in a caregiver-mediated randomized controlled trial targeting core deficits of autism spectrum disorder, and whether treatment attendance and adherence predicted outcome. In all, 147 caregiver-child dyads from a low-resourced population were randomized to in-home caregiver-mediated module or group-based caregiver education module treatment. Treatment attendance, adherence, and outcome (time spent in joint engagement) were the primary outcome variables. The majority of families who entered treatment (N = 87) maintained good attendance. Attendance was significantly predicted by socioeconomic status, site, and treatment condition. Families in caregiver-mediated module reported lower levels of treatment adherence, which was significantly predicted by site, condition, caregiver stress, and child nonverbal intelligence quotient. Dyads in caregiver-mediated module had significantly longer interactions of joint engagement, which was significantly predicted by an interaction between treatment attendance and condition. Overall, the results from this study stress the importance of considering demographic variables in research design when considering barriers to treatment attendance and adherence.
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4. Conti E, Calderoni S, Gaglianese A, Pannek K, Mazzotti S, Rose S, Scelfo D, Tosetti M, Muratori F, Cioni G, Guzzetta A. {{Lateralization of Brain Networks and Clinical Severity in Toddlers with Autism Spectrum Disorder: A HARDI Diffusion MRI Study}}. {Autism research : official journal of the International Society for Autism Research}. 2015 Aug 17.
Recent diffusion tensor imaging studies in adolescents and children with Autism Spectrum Disorder (ASD) have reported a loss or an inversion of the typical left-right lateralization in fronto-temporal regions crucial for sociocommunicative skills. No studies explored atypical lateralization in toddlers and its correlation with clinical severity of ASD. We recruited a cohort of 20 subjects aged 36 months or younger receiving a first clinical diagnosis of ASD (15 males; age range 20-36 months). Patients underwent diffusion MRI (High-Angular-Resolution Diffusion Imaging protocol). Data from cortical parcellation were combined with tractography to obtain a connection matrix and diffusion indexes (DI ) including mean fractional anisotropy (DFA ), number of tracts (DNUM ), and total tract length (DTTL ). A laterality index was generated for each measure, and then correlated with the Autism Diagnostic Observation Schedule-Generic (ADOS-G) total score. Laterality indexes of DFA were significantly correlated with ADOS-G total scores only in two intrafrontal connected areas (correlation was positive in one case and negative in the other). Laterality indexes of DTTL and DNUM showed significant negative correlations (P < 0.05) in six connected areas, mainly fronto-temporal. This study provides first evidence of a significant correlation between brain lateralization of diffusion indexes and clinical severity in toddlers with a first diagnosis of ASD. Significant correlations mainly involved regions within the fronto-temporal circuits, known to be crucial for sociocommunicative skills. It is of interest that all correlations but one were negative, suggesting an inversion of the typical left-right asymmetry in subjects with most severe clinical impairment. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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5. Contractor A, Klyachko VA, Portera-Cailliau C. {{Altered Neuronal and Circuit Excitability in Fragile X Syndrome}}. {Neuron}. 2015 Aug 19;87(4):699-715.
Fragile X syndrome (FXS) results from a genetic mutation in a single gene yet produces a phenotypically complex disorder with a range of neurological and psychiatric problems. Efforts to decipher how perturbations in signaling pathways lead to the myriad alterations in synaptic and cellular functions have provided insights into the molecular underpinnings of this disorder. From this large body of data, the theme of circuit hyperexcitability has emerged as a potential explanation for many of the neurological and psychiatric symptoms in FXS. The mechanisms for hyperexcitability range from alterations in the expression or activity of ion channels to changes in neurotransmitters and receptors. Contributions of these processes are often brain region and cell type specific, resulting in complex effects on circuit function that manifest as altered excitability. Here, we review the current state of knowledge of the molecular, synaptic, and circuit-level mechanisms underlying hyperexcitability and their contributions to the FXS phenotypes.
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6. Emerson ND, Morrell HE, Neece C. {{Predictors of Age of Diagnosis for Children with Autism Spectrum Disorder: The Role of a Consistent Source of Medical Care, Race, and Condition Severity}}. {Journal of autism and developmental disorders}. 2015 Aug 18.
Having a consistent source of medical care may facilitate diagnosis of autism spectrum disorders (ASD). This study examined predictors of age of ASD diagnosis using data from the 2011-2012 National Survey of Children’s Health. Using multiple linear regression analysis, age of diagnosis was predicted by race, ASD severity, having a consistent source of care (CSC), and the interaction between these variables after controlling for birth cohort, birth order, poverty level, parental education, and health insurance. While African American children were diagnosed earlier than Caucasians, this effect was moderated by ASD severity and CSC. Having a CSC predicted earlier diagnosis for Caucasian but not African American children. Both physician and parent behaviors may contribute to diagnostic delays in minority children.
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7. Goldin RL, Matson JL. {{Premature birth as a risk factor for autism spectrum disorder: Brief report}}. {Developmental neurorehabilitation}. 2015 Aug 19:1-4.
OBJECTIVE: Autism spectrum disorder (ASD) is common, life-long in nature, and can be very debilitating. Thus, an intensive search is on to identify the potential risk factors for the disorder. Premature birth has been identified as one potential factor that could influence potential symptoms of ASD. METHOD: The sample for this study consisted of 1655 at risk children for developmental delays who were 17-37 months of age. Participants were divided into those diagnosed with ASD (n = 916) and children with atypical development only (n = 739). RESULTS: Premature births were almost twice as common for the atypical development group versus the ASD group. CONCLUSIONS: Implications of these data are discussed.
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8. Jolly AA. {{Handle with Care: Top Ten Tips a Nurse Should Know Before Caring For a Hospitalized Child with Autism Spectrum Disorder}}. {Pediatric nursing}. 2015 Jan-Feb;41(1):11-6, 22.
The diagnosis of autism spectrum disorder is on the rise in the United States. More children with this disorder are requiring hospitalization and have an extended length of stay once hospitalized. The pediatric nurse is often unaware of or unprepared to offer the care that this special population requires. Sharing information obtained through repeated encounters with this population may lead to a less stressful and safer hospital stay for the child with autism, the family, and the pediatric nurse. Items about which the nurse should be aware when caring for a child with autism include the symptoms of autism spectrum disorder, the importance of family involvement, identifying the best way to communicate with the child, minimizing change, incorporating the child’s home routine into the stay, creating a safe environment, identifying emotional disturbances, involving a multi-disciplinary team of experts on admission, listening to the family, and creating a record of this information to be shared among staff members.
9. Joosten A, Girdler S, Albrecht MA, Horlin C, Falkmer M, Leung D, Ordqvist A, Fleischer H, Falkmer T. {{Gaze and visual search strategies of children with Asperger syndrome/high functioning autism viewing a magic trick}}. {Developmental neurorehabilitation}. 2015 Aug 19:1-8.
OBJECTIVE: To examine visual search patterns and strategies used by children with and without Asperger syndrome/high functioning autism (AS/HFA) while watching a magic trick. Limited responsivity to gaze cues is hypothesised to contribute to social deficits in children with AS/HFA. METHODS: Twenty-one children with AS/HFA and 31 matched peers viewed a video of a gaze-cued magic trick twice. Between the viewings, they were informed about how the trick was performed. Participants’ eye movements were recorded using a head-mounted eye-tracker. RESULTS: Children with AS/HFA looked less frequently and had shorter fixation on the magician’s direct and averted gazes during both viewings and more frequently at not gaze-cued objects and on areas outside the magician’s face. After being informed of how the trick was conducted, both groups made fewer fixations on gaze-cued objects and direct gaze. CONCLUSIONS: Information may enhance effective visual strategies in children with and without AS/HFA.
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10. Kang-Yi CD, Locke J, Marcus SC, Hadley TR, Mandell DS. {{School-Based Behavioral Health Service Use and Expenditures for Children With Autism and Children With Other Disorders}}. {Psychiatric services (Washington, DC)}. 2015 Aug 17:appips201400505.
OBJECTIVE: This study compared use of and associated expenditures for Medicaid-reimbursed school-based and out-of-school services for children with autism spectrum disorder (ASD) and those with other psychiatric disorders. METHODS: Philadelphia County Medicaid claims were used to identify children ages five to 17 who received behavioral health services through Medicaid any time between October 2008 and September 2009 (N=24,271). Children were categorized into four diagnostic groups: autism spectrum disorder (ASD), conduct disorder or oppositional defiant disorder (conduct-ODD), attention-deficit hyperactivity disorder (ADHD), and other psychiatric disorders. Logistic regression analysis compared use of in-school and out-of-school behavioral health services between children with ASD and children with other psychiatric disorders. Generalized linear models with gamma distribution were used to estimate differences in Medicaid expenditures for in-school and out-of-school services and total Medicaid expenditures for both service types by disorder, with adjustments for age, sex, and race-ethnicity. RESULTS: The most common diagnosis was ADHD (40%); 35% had other psychiatric disorders, 21% had conduct-ODD, and 4% had ASD. A significantly greater proportion of children with ASD (52%) received in-school behavioral health services (conduct-ODD, 5%; ADHD, 8%; and other psychiatric disorders, 1.7%) Per-child expenditures for both school-based and out-of-school behavioral health services were significantly higher for children with ASD than for children in the other groups. CONCLUSIONS: Medicaid represents an important source of in-school and out-of-school care for children with ASD and their families. States that expand Medicaid under the Affordable Care Act should give careful consideration to covering school-based mental health services for children with ASD.
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11. Keehn B, Joseph RM. {{Slowed Search in the Context of Unimpaired Grouping in Autism: Evidence from Multiple Conjunction Search}}. {Autism research : official journal of the International Society for Autism Research}. 2015 Aug 17.
In multiple conjunction search, the target is not known in advance but is defined only with respect to the distractors in a given search array, thus reducing the contributions of bottom-up and top-down attentional and perceptual processes during search. This study investigated whether the superior visual search skills typically demonstrated by individuals with autism spectrum disorder (ASD) would be evident in multiple conjunction search. Thirty-two children with ASD and 32 age- and nonverbal IQ-matched typically developing (TD) children were administered a multiple conjunction search task. Contrary to findings from the large majority of studies on visual search in ASD, response times of individuals with ASD were significantly slower than those of their TD peers. Evidence of slowed performance in ASD suggests that the mechanisms responsible for superior ASD performance in other visual search paradigms are not available in multiple conjunction search. Although the ASD group failed to exhibit superior performance, they showed efficient search and intertrial priming levels similar to the TD group. Efficient search indicates that ASD participants were able to group distractors into distinct subsets. In summary, while demonstrating grouping and priming effects comparable to those exhibited by their TD peers, children with ASD were slowed in their performance on a multiple conjunction search task, suggesting that their usual superior performance in visual search tasks is specifically dependent on top-down and/or bottom-up attentional and perceptual processes. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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12. Matlis S, Boric K, Chu CJ, Kramer MA. {{Erratum: Robust disruptions in electroencephalogram cortical oscillations and large-scale functional networks in autism}}. {BMC neurology}. 2015;15:142.
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13. McKenzie K, Forsyth K, O’Hare A, McClure I, Rutherford M, Murray A, Irvine L. {{Factors influencing waiting times for diagnosis of Autism Spectrum Disorder in children and adults}}. {Research in developmental disabilities}. 2015 Aug 13;45-46:300-6.
AIMS: To identify the main factors predicting delays in diagnosis for Autism Spectrum Disorder (ASD) at three stages in the diagnostic process: wait for first appointment; assessment duration, and total wait for diagnosis. METHOD: Data were gathered from 150 case notes (80 child and 70 adult cases) from 16 diagnosing services across Scotland. RESULTS: Having more information pre-assessment was associated with a reduced duration of the diagnostic process for children. This relationship was partially mediated by a reduction in the number of contacts required for diagnosis. In adults, having more factors associated with ASD (increased risk) reduced the wait time from referral to first appointment, but increased the overall duration of the diagnostic process. The latter relationship was partially mediated by an increase in the number of contacts required for diagnosis. CONCLUSION: Within children’s services, increasing the amount of relevant information available pre-assessment is likely to reduce total duration of the assessment process by reducing number of contacts required. Having a high risk of ASD as an adult appears to result in being seen more quickly following referral, but also to increase the number of contacts needed and assessment duration. As a result, it increases and total duration overall.
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14. Mutreja R, Craig C, O’Boyle MW. {{Attentional network deficits in children with autism spectrum disorder}}. {Developmental neurorehabilitation}. 2015 Aug 19:1-9.
STATEMENT OF PURPOSE: Individuals with autism spectrum disorder (ASD) often demonstrate deficient attentional ability, but the specific nature of the deficit is unclear. The Attention Networks model provides a useful approach to deconstruct this attentional deficit into its component parts. METHOD: Fifty-two neurotypical (NT) children and 14 children with ASD performed the child version of the Attention Network Test (ANT). The latter requires participants to indicate the direction of a centre target stimulus, which is presented above/below fixation and sometimes flanked by either congruent or incongruent distractor stimuli. RESULTS: Relative to NT children, those with ASD were: (1) slower to react to spatially cued trials and (2) more error prone on executive (conflict) attention trials. CONCLUSIONS: Young children with ASD have intact alerting attention, but less-efficient orienting and executive attention.
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15. Nelson SB, Valakh V. {{Excitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum Disorders}}. {Neuron}. 2015 Aug 19;87(4):684-98.
Autism spectrum disorders (ASDs) and related neurological disorders are associated with mutations in many genes affecting the ratio between neuronal excitation and inhibition. However, understanding the impact of these mutations on network activity is complicated by the plasticity of these networks, making it difficult in many cases to separate initial deficits from homeostatic compensation. Here we explore the contrasting evidence for primary defects in inhibition or excitation in ASDs and attempt to integrate the findings in terms of the brain’s ability to maintain functional homeostasis.
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16. Paden AR, Kodak T. {{The effects of reinforcement magnitude on skill acquisition for children with autism}}. {Journal of applied behavior analysis}. 2015 Aug 17.
We examined the effects of reinforcement magnitude on skill acquisition during discrete-trial training. After conducting a magnitude preference assessment, we compared acquisition during conditions with large and small magnitudes of edible reinforcement to a praise-only condition. Although all participants showed a preference for the large-magnitude reinforcer, preference did not predict the magnitude that produced the fastest skill acquisition.
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17. Palumbo L, Burnett HG, Jellema T. {{Atypical emotional anticipation in high-functioning autism}}. {Molecular autism}. 2015;6:47.
BACKGROUND: Understanding and anticipating others’ mental or emotional states relies on the processing of social cues, such as dynamic facial expressions. Individuals with high-functioning autism (HFA) may process these cues differently from individuals with typical development (TD) and purportedly use a ‘mechanistic’ rather than a ‘mentalistic’ approach, involving rule- and contingency-based interpretations of the stimuli. The study primarily aimed at examining whether the judgments of facial expressions made by individuals with TD and HFA would be similarly affected by the immediately preceding dynamic perceptual history of that face. A second aim was to explore possible differences in the mechanisms underpinning the perceptual judgments in the two groups. METHODS: Twenty-two adults with HFA and with TD, matched for age, gender and IQ, were tested in three experiments in which dynamic, ‘ecologically valid’ offsets of happy and angry facial expressions were presented. Participants evaluated the expression depicted in the last frame of the video clip by using a 5-point scale ranging from slightly angry via neutral to slightly happy. Specific experimental manipulations prior to the final facial expression of the video clip allowed examining contributions of bottom-up mechanisms (sequential contrast/context effects and representational momentum) and a top-down mechanism (emotional anticipation) to distortions in the perception of the final expression. RESULTS: In experiment 1, the two groups showed a very similar perceptual bias for the final expression of joy-to-neutral and anger-to-neutral videos (overshoot bias). In experiment 2, a change in the actor’s identity during the clip removed the bias in the TD group, but not in the HFA group. In experiment 3, neutral-to-joy/anger-to-neutral sequences generated an undershoot bias (opposite to the overshoot) in the TD group, whereas no bias was observed in the HFA group. CONCLUSIONS: We argue that in TD individuals the perceptual judgments of other’s facial expressions were underpinned by an automatic emotional anticipation mechanism. In contrast, HFA individuals were primarily influenced by visual features, most notably the contrast between the start and end expressions, or pattern extrapolation. We critically discuss the proposition that automatic emotional anticipation may be induced by motor simulation of the perceived dynamic facial expressions and discuss its implications for autism.
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18. Panasiti MS, Puzzo I, Chakrabarti B. {{Autistic Traits Moderate the Impact of Reward Learning on Social Behaviour}}. {Autism research : official journal of the International Society for Autism Research}. 2015 Aug 17.
A deficit in empathy has been suggested to underlie social behavioural atypicalities in autism. A parallel theoretical account proposes that reduced social motivation (i.e., low responsivity to social rewards) can account for the said atypicalities. Recent evidence suggests that autistic traits modulate the link between reward and proxy metrics related to empathy. Using an evaluative conditioning paradigm to associate high and low rewards with faces, a previous study has shown that individuals high in autistic traits show reduced spontaneous facial mimicry of faces associated with high vs. low reward. This observation raises the possibility that autistic traits modulate the magnitude of evaluative conditioning. To test this, we investigated (a) if autistic traits could modulate the ability to implicitly associate a reward value to a social stimulus (reward learning/conditioning, using the Implicit Association Task, IAT); (b) if the learned association could modulate participants’ prosocial behaviour (i.e., social reciprocity, measured using the cyberball task); (c) if the strength of this modulation was influenced by autistic traits. In 43 neurotypical participants, we found that autistic traits moderated the relationship of social reward learning on prosocial behaviour but not reward learning itself. This evidence suggests that while autistic traits do not directly influence social reward learning, they modulate the relationship of social rewards with prosocial behaviour. Autism Res 2015. (c) 2015 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research.
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19. Ptomey LT, Gibson CA, Willis EA, Taylor JM, Goetz JR, Sullivan DK, Donnelly JE. {{Parents’ perspective on weight management interventions for adolescents with intellectual and developmental disabilities}}. {Disability and health journal}. 2015 Jul 23.
BACKGROUND: Adolescents with intellectual and developmental disabilities (IDD) have high rates of obesity. However, little research has been conducted demonstrating effective strategies and barriers for weight loss or weight management in adolescents with IDD. Furthermore, parents play a large role in terms of weight management in children and adolescents with IDD, and their views should be taken into consideration when designing a diet and PA intervention for weight management. OBJECTIVE: The aims of this study are to better understand the parents’ perspectives on the strategies and barriers for helping children and adolescents with IDD be successful in a weight management program and to identify how this information to guide future approaches. METHODS: Semi-structured interviews were conducted in 18 parents whose children had just finished a diet and PA intervention. Interviews were transcribed verbatim, and thematic analysis was performed. RESULTS: Parents reported a positive attitude toward the program, liked the convenience of the program, and felt that they learned beneficial strategies to encourage healthy habits in the home. Parents found time to be a major barrier to supporting their child with a diet and PA intervention. Parents were willing to change their own dietary behaviors to help their children successfully follow a weight loss intervention; however, no parent reported changing their own PA levels. CONCLUSION: Future diet and PA studies should aim to reduce parental time commitment and increase importance of PA.
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20. Qin LY, Dai XF. {{[Effect of sulindac on improving autistic behaviors in rats]}}. {Nan fang yi ke da xue xue bao = Journal of Southern Medical University}. 2015 Aug 20;35(8):1162-5.
OBJECTIVE: To test the effect of sulindac on autistic behaviors in a rat model and explore the possible mechanisms. METHODS: Autistic rat models were established by a single intraperitoneal injection of sodium valproate (VPA) at 12.5 days of pregnancy. The pregnant rats were treated with oral sulindac at a daily dose of 80 mg/kg until weaning of the newborn rats (23 days after being born), which were divided into control, VPA treatment, sulindac treatment, and VPA+ sulindac treatment groups. The social interaction and neuroethology of the newborn rats were evaluated at 35 days, and the levels of beta-catenin and phosphorylated Gsk3beta in the brain tissues were investigated by Western blotting. RESULTS: Compared with the control rats, the rats treated with VPA showed lower social interaction, longer moving time in central area, and reduced standing times. Treatment with sulindac alone resulted in no obvious changes in the social interaction or neuroethology of the newborn rats, but sulindac treatment corrected VPA-induced autistic-like behaviors. Sulindac also attenuated VPA-triggered p-Gsk3beta downregulation and beta-catenin upregulation in the prefrontal lobe, seahorse and cerebellum. CONCLUSION: ulindac can improve the behaviors of autistic rats possibly by suppressing Wnt signaling pathway.
21. Rafie F, Shikh M, Jalali S, Pourranjbar M. {{Physical Exercises and Motor Skills in Autistic Children}}. {Iranian journal of public health}. 2015 May;44(5):724-5.
22. Randall M, Sciberras E, Brignell A, Ihsen E, Efron D, Dissanayake C, Williams K. {{Autism spectrum disorder: Presentation and prevalence in a nationally representative Australian sample}}. {The Australian and New Zealand journal of psychiatry}. 2015 Aug 17.
OBJECTIVE: The aim of this study was to identify the prevalence of parent-reported autism spectrum disorder diagnosis in Australia, and examine the developmental profile of children with autism spectrum disorder compared to their peers. DESIGN/SETTING: Secondary analyses were undertaken on data from the Longitudinal Study of Australian Children. PARTICIPANTS: Children were recruited at kindergarten (K cohort) and birth (B cohort), and subsequently completed two-yearly ‘waves’ of assessments. MAIN OUTCOMES: Autism spectrum disorder diagnostic status was ascertained at Wave 4 along with age of diagnosis by parent report. Standardised tools were used to assess children’s quality of life, behaviour, receptive vocabulary and non-verbal intelligence. RESULTS: Prevalence of autism spectrum disorder was 2.5% (95% confidence interval = [2.0, 3.0]) in the B cohort compared to 1.5% (95% confidence interval = [1.2, 2.0]) in the K cohort. In both cohorts, children with autism spectrum disorder had poorer mean quality of life, emotional-behavioural functioning and receptive vocabulary compared with non-autism spectrum disorder peers, and a higher proportion of children with autism spectrum disorder had problems in these areas. However, between 6% and 9% of children with moderate to severe autism spectrum disorder and 12-20% with mild autism spectrum disorder were not reported to have problems with social interaction. CONCLUSION: The prevalence of a parent-reported diagnosis of autism spectrum disorder before age 7 in Australia was higher in the B cohort. Data from future Longitudinal Study of Australian Children waves will clarify whether autism spectrum disorder has been diagnosed earlier in the B cohort or if there is a continued increase in prevalence. Future waves will also provide crucial information about the types and severity of problems experienced during the primary and secondary school years which will assist service planning.
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23. Romero-Martinez A, Moya-Albiol L, Vinkhuyzen AA, Polderman TJ. {{Genetic and environmental contributions to the inverse association between specific autistic traits and experience seeking in adults}}. {American journal of medical genetics Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics}. 2015 Aug 18.
Autistic traits are characterized by social and communication problems, restricted, repetitive and stereotyped patterns of behavior, interests and activities. The relation between autistic traits and personality characteristics is largely unknown. This study focused on the relation between five specific autistic traits measured with the abridged version of the Autism Spectrum Quotient (« social problems, » « preference for routine, » « attentional switching difficulties, » « imagination impairments, » « fascination for numbers and patterns ») and Experience Seeking (ES) in a general population sample of adults, and subsequently investigated the genetic and environmental etiology between these traits. Self-reported data on autistic traits and ES were collected in a population sample (n = 559) of unrelated individuals, and in a population based family sample of twins and siblings (n = 560). Phenotypic, genetic and environmental associations between traits were examined in a bivariate model, accounting for sex and age differences. Phenotypically, ES correlated significantly with « preference for routine » and « imagination impairments » in both samples but was unrelated to the other autistic traits. Genetic analyses in the family sample revealed that the association between ES and « preference for routine » and « imagination impairments » could largely be explained by a shared genetic factor (89% and 70%, respectively). Our analyses demonstrated at a phenotypic and genetic level an inverse relationship between ES and specific autistic traits in adults. ES is associated with risk taking behavior such as substance abuse, antisocial behavior and financial problems. Future research could investigate whether autistic traits, in particular strong routine preference and impaired imagination skills, serve as protective factors for such risky behaviors. (c) 2015 Wiley Periodicals, Inc.
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24. Schaefer-Campion C, Johnson NL. {{Fostering Ambulation for a Preschool Child with Rett Syndrome: A Case Report}}. {Physical & occupational therapy in pediatrics}. 2015 Aug 19:1-11.
Children with Rett Syndrome (RS) have neuromotor impairments that impact their mobility. Poor hand function among children with RS limits the selection of an assistive device for ambulation. PURPOSE: The purpose of this case report is to describe the process of selecting an assistive device for a child with RS to promote ambulation. METHOD: This single subject case reports on a 5-year-old girl with RS at a suburban mid-western early childhood special education setting. RESULTS: The child in this case was able to walk the farthest distances with a metal toy shopping cart and then with an anterior facing four-wheeled walker. CONCLUSION: The outcome suggests that physical therapists and health professionals caring for young children with RS consider using a metal toy shopping cart to establish and practice ambulation prior to selection of a longer term, adjustable anterior facing walker like the one in this case report.
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25. Shen Y, Xun G, Guo H, He Y, Ou J, Dong H, Xia K, Zhao J. {{Association and gene-gene interactions study of reelin signaling pathway related genes with autism in the Han Chinese population}}. {Autism research : official journal of the International Society for Autism Research}. 2015 Aug 19.
Autism is a neurodevelopmental disorder with unclear etiology. Reelin had been proposed to participate in the etiology of autism due to its important role in brain development. The goal of this study was to explore the association and gene-gene interactions of reelin signaling pathway related genes (RELN, VLDLR, LRP8, DAB1, FYN, and CDK5) with autism in Han Chinese population. Genotyping data of the six genes were obtained from a recent genome-wide association study performed in 430 autistic children who fulfilled the DSM-IV-TR criteria for autistic disorder, and 1,074 healthy controls. Single marker case-control association analysis and haplotype case-control association analysis were conducted after the data was screened. Multifactor dimensionality reduction (MDR) was applied to further test gene-gene interactions. Neither the single marker nor the haplotype association tests found any significant difference between the autistic group and the control group after permutation test of 1,000 rounds. The 4-locus MDR model (comprising rs6143734, rs1858782, rs634500, and rs1924267 which belong to RELN and DAB1) was determined to be the model with the highest cross-validation consistency (CVC) and testing balanced accuracy. The results indicate that an interaction between RELN and DAB1 may increase the risk of autism in the Han Chinese population. Furthermore, it can also be inferred that the involvement of RELN in the etiology of autism would occur through interaction with DAB1. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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26. Skokauskas N, Frodl T. {{Overlap between Autism Spectrum Disorder and Bipolar Affective Disorder}}. {Psychopathology}. 2015 Aug 8.
BACKGROUND: At present there is a substantial uncertainty regarding the extent and nature of autism spectrum disorder (ASD) and bipolar affective disorder (BPAD) co-occurrence due to disparate findings in previous studies. This paper aimed to find and review original studies on co-occurrence rates of ASD with BPAD, assess them, synthesize the findings in a systematic way, present an overview and make recommendations for future research. METHODS: Systematic literature searches were performed using several databases. Selected articles had to describe an original study that provided prevalence and/or incidence analysis on ASD co-occurring together with BPAD. RESULTS AND CONCLUSION: A significant minority of patients (7%) with ASD suffers from BPAD. An accurate detection of co-occurring ASD and BPAD can lead to a more targeted treatment and improve the patients’ functioning and quality of life. (c) 2015 S. Karger AG, Basel.
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27. Smoot Reinert S, Jackson K, Bigelow K. {{Using Posturography to Examine the Immediate Effects of Vestibular Therapy for Children with Autism Spectrum Disorders: A Feasibility Study}}. {Physical & occupational therapy in pediatrics}. 2015 Aug 19:1-16.
AIMS: The primary objective of this study was to determine the feasibility of using posturography to monitor acute changes in postural control induced by a Sensory Integration (SI) therapy intervention. A secondary objective was to identify which posturography outcome parameters, tests conditions and data analysis methods might be most useful in identifying post-intervention changes. METHODS: Five children with Autism Spectrum Disorder (ASD) and five children with typical development (TD) participated in a 10 min vestibular swing activity and had their postural stability evaluated pre- and post-intervention under four different sensory testing conditions. Sway ranges, mean sway velocity, sway root mean square (RMS), and sample entropy were calculated from center of pressure (COP) data. RESULTS: All five children with ASD demonstrated decreased mean sway velocity in the eyes open/flat plate condition post-intervention with an average decrease of 5.87 +/- 2.69 mm/s. Four of the five children with ASD demonstrated an increase in RMS and a decrease in anterior/posterior sample entropy post-intervention in the eyes closed, foam pad condition and eyes open, flat plate condition respectively. CONCLUSION: Posturography may be useful for assessing acute physiologic responses to an SI therapy intervention and warrants further investigation.
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28. Tarquinio DC, Hou W, Neul JL, Kaufmann WE, Glaze DG, Motil KJ, Skinner SA, Lee HS, Percy AK. {{The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders}}. {Pediatric neurology}. 2015 Jun 26.
PURPOSE: Survival in Rett syndrome remains unclear. Although early estimates were grim, more recent data suggest that survival into adulthood is typical. We aimed to define survival in Rett syndrome more clearly and identify risk factors for early death. METHODS: Participants with clinical Rett Syndrome or methyl-CpG-binding protein 2 mutations without clinical RTT were recruited through the Rett Syndrome Natural History study from 2006 to 2015. Clinical details were collected, and survival was determined using the Kaplan-Meier estimator. Risk factors were assessed using Cox proportional hazards models. RESULTS: Among 1189 valid participants, 51 died (range 3.9-66.6 years) during the 9-year follow-up period. Those who died included 36 (3.9%) classic Rett syndrome females, 5 (5.9%) atypical severe Rett syndrome females, 1 (2.4%) non-Rett syndrome female, the single atypical severe male, 6 (30%) non-Rett syndrome males, and 2 (7.1%) methyl-CpG-binding protein 2 duplication syndrome males. All atypical mild Rett syndrome females, methyl-CpG-binding protein 2 duplication syndrome females, and the single classic Rett syndrome male remain alive. Most deaths were due to cardiorespiratory issues. Only one died from severe malnutrition, scoliosis, and extreme frailty. Survival for classic and atypical Rett syndrome was greater than 70% at 45 years. Overall severity and several modifiable risk factors, including ambulation, weight, and seizures, were associated with mortality in classic Rett syndrome. CONCLUSIONS: Survival into the fifth decade is typical in Rett syndrome, and death due to extreme frailty has become rare. Although the leading cause of death remains cardiorespiratory compromise, many risk factors for early death are modifiable. Intense therapeutic interventions could further improve the prognosis for individuals with Rett syndrome.
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29. Tu PC, Hsu JW, Lan CC, Liu CC, Su TP, Chen YS. {{Structural and functional correlates of a quantitative autistic trait measured using the social responsive scale in neurotypical male adolescents}}. {Autism research : official journal of the International Society for Autism Research}. 2015 Aug 18.
Behaviors associated with autism spectrum disorder (ASD) have been suggested to be considered as quantitative traits. This study investigated the structural and functional correlates of autistic traits measured using the Social Responsiveness Scale (SRS) in neurotypical adolescents. Twenty-six neurotypical male adolescents (12-18 years old) were recruited for this study and underwent structural and resting functional magnetic resonance image scanning, and intelligence quotient and SRS evaluations. We used the automated surface-based method (FreeSurfer) to measure cortical thickness and seed-based functional connectivity (FC) analysis to derive the FC map of the dorsal anterior cingulate (dACC). Brain-wise regression analyses of cortical thickness and FC maps on SRS scores were performed using a general linear model. The results indicated that higher autistic trait ratings of total SRS scores were associated with a thinner cortex in the left insula, right insula, and right superior temporal gyrus. Furthermore, we observed that only higher scores of social awareness were correlated with increased FC between the dACC and right superior temporal gyrus and decreased FC between the dACC and right putamen and thalamus. These results indicated that a quantitative trait in social cognition is associated with structural and connectivity variations linked to ASD patients. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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30. Vijayashankar S, Arumugam G, Sridharan S. {{Urine proteome analysis to evaluate protein biomarkers in children with autism}}. {Clinica chimica acta; international journal of clinical chemistry}. 2015 Aug 19.
BACKGROUND: Autism is a complex developmental disability for which no specific diagnostic markers have been identified so far. The present study aimed to evaluate whether there is any abnormal protein(s) excreted in the urine of autistic children by proteome analysis which may act as diagnostic marker. METHODS: Urine proteome analysis was carried out in first void urine samples of autistic and normal children (n=30) in the age group of 4-12years by 2D-PAGE followed by MALDI-TOF-MS analysis. RESULTS: Comparison of 2D-PAGE gels revealed that many urinary proteins are expressed differentially in autistic children. Total numbers of spots observed were 250 and 159 in autism and normal samples respectively, out of which 95 matches were observed. In addition, 3 spots of abnormally expressed peptides were selected, excised and analyzed. Peptide sequence with significant match score was for kininogen-1 (KNG-1)-50 (spot-1), IgG1 heavy chain variable region-35(spot-2) and mannan-binding lectin serine protease-2 isoform-2 precursor-45(spot-3). All the autistic children showed significant increase (p<0.001) in urinary kininogen level measured quantitatively by ELISA, when compared to normal children. CONCLUSION: Increased urinary kininogen-1 level in all the autistic children and the possibility of this protein as a diagnostic marker need further investigation.
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31. Wahlstrom-Helgren S, Klyachko VA. {{GABA Receptor-mediated feed-forward circuit dysfunction in the mouse model of fragile X syndrome}}. {The Journal of physiology}. 2015 Aug 18.
Circuit hyperexcitability has been implicated in neuropathology of Fragile X syndrome, the most common inheritable cause of intellectual disability. Yet, how canonical unitary circuits are affected in this disorder remains poorly understood. Here, we examined this question in the context of the canonical feed-forward inhibitory circuit formed by the Temporoammonic (TA) branch of the perforant path, the major cortical input to the hippocampus. TA feed-forward circuits exhibited a marked increase in excitation/excitation ratio and major functional defects in spike modulation tasks in Fmr1 KO mice, a Fragile X mouse model. Changes in feed-forward circuits were caused specifically by inhibitory, but not excitatory, synapse defects. TA-associated inhibitory synapses exhibited increase in paired-pulse ratio and in the coefficient of variation of IPSPs, consistent with decreased GABA release probability. TA-associated inhibitory synaptic transmission in Fmr1 KO mice was also more sensitive to inhibition of GABAB receptors, suggesting an increase in presynaptic GABAB receptor (GABAB R) signaling. Indeed, the differences in inhibitory synaptic transmission between Fmr1 KO and WT mice were eliminated by a GABAB R antagonist. Inhibition of GABAB Rs or selective activation of presynaptic GABAB Rs also abolished the differences in the TA feed-forward circuit properties between Fmr1 KO and WT mice. These GABAB R-mediated defects were circuit-specific and were not observed in the Schaffer collateral pathway-associated inhibitory synapses. Our results suggest that the inhibitory synapse dysfunction in the cortical-hippocampal pathway of Fmr1 KO mice causes hyperexcitability and feed-forward circuit defects, which are mediated in part by a presynaptic GABAB R-dependent reduction in GABA release. This article is protected by copyright. All rights reserved.
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32. Wigston C, Falkmer M, Vaz S, Parsons R, Falkmer T. {{Participation in extracurricular activities for children with and without siblings with autism spectrum disorder}}. {Developmental neurorehabilitation}. 2015 Aug 19:1-15.
OBJECTIVE: To compare the number, frequency, enjoyment and performance in extracurricular activities of siblings of children with autism spectrum disorders (ASD) to their typically developing (TD) peers, and to identify differences between actual and desired participation. METHODS: A case-control study with 30 siblings of children with ASD and 30 siblings of TD children was conducted using the Paediatric Interest Profiles and a questionnaire. RESULTS: Siblings of children with ASD participated in fewer extracurricular activities than those with TD siblings. ASD symptoms were significantly associated with the sibling participating in fewer extracurricular activities. Children with TD siblings had higher enjoyment scores in relaxation activities than children with siblings with ASD. CONCLUSION: While results were mainly positive, some differences indicated that having a sibling with ASD may impact participation in extracurricular activities. Assessments of participation barriers, as well as support to minimise participation restrictions among siblings of children with ASD are required.
