1. Barlow KE, Tiger JH, Slocum SK, Miller SJ. {{Comparing acquisition of exchange-based and signed mands with children with autism}}. {Anal Verbal Behav};2013;29(1):59-69.
Therapists and educators frequently teach alternative-communication systems, such as picture exchanges or manual signs, to individuals with developmental disabilities who present with expressive language deficits. Michael (1985) recommended a taxonomy for alternative communication systems that differentiated between selection-based systems in which each response is topographically identical (e.g., card selection and exchange systems) and topography-based systems in which each response is topographically distinct (e.g., signed language). We compared the efficiency of training picture exchanges and signs with 3 participants who presented with severe language deficits; all participants acquired the picture-exchange responses more readily.
2. Bellani M, Calderoni S, Muratori F, Brambilla P. {{Brain anatomy of autism spectrum disorders II. Focus on amygdala}}. {Epidemiol Psychiatr Sci};2013 (Jul 2):1-4.
This brief review encompasses the key findings of structural Magnetic Resonance Imaging (sMRI) research on amygdala volume in autism spectrum disorders (ASD). We also highlight the possible correlation between the autistic behavioural phenotype and amygdala alteration.
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3. Boyd BA, Hume K, McBee MT, Alessandri M, Gutierrez A, Johnson L, Sperry L, Odom SL. {{Comparative Efficacy of LEAP, TEACCH and Non-Model-Specific Special Education Programs for Preschoolers with Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Jun 28)
LEAP and TEACCH represent two comprehensive treatment models (CTMs) that have been widely used across several decades to educate young children with autism spectrum disorders. The purpose of this quasi-experimental study was to compare high fidelity LEAP (n = 22) and TEACCH (n = 25) classrooms to each other and a control condition (n = 28), in which teachers in high quality special education programs used non-model-specific practices. A total of 198 children were included in data analysis. Across conditions, children’s performances improved over time. This study raises issues of the replication of effects for CTMs, and whether having access to a high quality special education program is as beneficial as access to a specific CTM.
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4. Cedars MI. {{In Vitro Fertilization and Risk of Autistic Disorder and Mental Retardation}}. {JAMA};2013 (Jul 3);310(1):42-43.
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5. Chien WH, Gau SS, Chen CH, Tsai WC, Wu YY, Chen PH, Shang CY. {{Increased gene expression of FOXP1 in patients with autism spectrum disorders}}. {Mol Autism};2013 (Jul 1);4(1):23.
BACKGROUND: Comparative gene expression profiling analysis is useful in discovering differentially expressed genes associated with various diseases, including mental disorders. Autism spectrum disorders (ASD) are a group of complex childhood-onset neurodevelopmental and genetic disorders characterized by deficits in language development and verbal communication, impaired reciprocal social interaction, and the presence of repetitive behaviors or restricted interests. The study aimed to identify novel genes associated with the pathogenesis of ASD. METHODS: We conducted comparative total gene expression profiling analysis of lymphoblastoid cell lines (LCL) between 16 male patients with ASD and 16 male control subjects to screen differentially expressed genes associated with ASD. We verified one of the differentially expressed genes, FOXP1, using real-time quantitative PCR (RT-qPCR) in a sample of 83 male patients and 83 male controls that included the initial 16 male patients and male controls, respectively. RESULTS: A total of 252 differentially expressed probe sets representing 202 genes were detected between the two groups, including 89 up- and 113 downregulated genes in the ASD group. RT-qPCR verified significant elevation of the FOXP1 gene transcript of LCL in a sample of 83 male patients (10.46 +/- 11.34) compared with 83 male controls (5.17 +/- 8.20, P = 0.001). CONCLUSIONS: Comparative gene expression profiling analysis of LCL is useful in discovering novel genetic markers associated with ASD. Elevated gene expression of FOXP1 might contribute to the pathogenesis of ASD.Clinical trial registration: Identifier: NCT00494754.
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6. Del Rosario M, Gillespie-Lynch K, Johnson S, Sigman M, Hutman T. {{Parent-Reported Temperament Trajectories Among Infant Siblings of Children with Autism}}. {J Autism Dev Disord};2013 (Jul 3)
Temperament atypicalities have been documented in infancy and early development in children who develop autism spectrum disorders (ASD). The current study investigates whether there are differences in developmental trajectories of temperament between infants and toddlers with and without ASD. Parents of infant siblings of children with autism completed the Carey Temperament Scales about their child at 6, 12, 18, 24, and 36 months of age. Temperament trajectories of children with ASD reflected increases over time in activity level, and decreasing adaptability and approach behaviors relative to high-risk typically developing (TD) children. This study is the first to compare temperament trajectories between high-risk TD infants and infants subsequently diagnosed with ASD in the developmental window when overt symptoms of ASD first emerge.
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7. Donnelly JE, Saunders RR, Saunders M, Washburn RA, Sullivan DK, Gibson CA, Ptomey LT, Goetz JR, Honas JJ, Betts JL, Rondon MR, Smith BK, Mayo MS. {{Weight management for individuals with intellectual and developmental disabilities: Rationale and design for an 18month randomized trial}}. {Contemp Clin Trials};2013 (Jun 25)
Weight management for individuals with intellectual and developmental disabilities (IDD) has received limited attention. Studies on weight management in this population have been conducted over short time frames, in small samples with inadequate statistical power, infrequently used a randomized design, and have not evaluated the use of emerging effective dietary strategies such as pre-packaged meals (PMs). Low energy/fat PMs may be useful in individuals with IDD as they simplify meal planning, limit undesirable food choices, teach appropriate portion sizes, are convenient and easy to prepare, and when combined with fruits and vegetables provide a high volume, low energy dense meal. A randomized effectiveness trial will be conducted in 150 overweight/obese adults with mild to moderate IDD, and their study partners to compare weight loss (6months) and weight maintenance (12months) between 2 weight management approaches: 1. A Stop Light Diet enhanced with reduced energy/fat PMs (eSLD); and 2. A recommended care reduced energy/fat meal plan diet (RC). The primary aim is to compare weight loss (0-6months) and weight maintenance (7-18months) between the eSLD and RC diets. Secondarily, changes in chronic disease risk factors between the eSLD and RC diets including blood pressure, glucose, insulin, LDL-cholesterol, and HDL-cholesterol will be compared during both weight loss and weight maintenance. Finally, potential mediators of weight loss including energy intake, physical activity, data recording, adherence to the diet, study partner self-efficacy and daily stress related to dietary change will be explored.
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8. Flight MH. {{Neurological disorders: Loss of MECP2 bridge in Rett}}. {Nat Rev Neurosci};2013 (Jul 3)
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9. Franco JH, Davis BL, Davis JL. {{Increasing Social Interactions Using Prelinguistic Milieu Teaching with Nonverbal School-age Children with Autism}}. {Am J Speech Lang Pathol};2013 (Jun 28)
PURPOSE: Children with autism display marked deficits in initiating and maintaining social interactions. Intervention using play routines can create a framework for developing and maintaining social interaction between these children and their communication partners. METHOD: Six nonverbal 5-8 year old children with autism were taught to engage in social interactions within salient play routines. Prelinguistic Milieu Teaching (PMT) techniques were used to teach the children to communicate intentionally during these routines. Intervention focused on the children’s social interactions with an adult. Effects of intervention were evaluated using a multiple baseline design across participants. RESULTS: At study onset, participants demonstrated few consistent interactions with others. With intervention, all of the children improved their ability to sustain social interactions, as evidenced by an increase in the number of communicative interactions during play routines. Participants also increased their overall rate of initiated intentional communication. CONCLUSIONS: Development of intentional prelinguistic communication within salient social routines creates opportunities for an adult to teach social and communication skills to young school age children with autism who function at a nonverbal level.
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10. Gaigg SB, Bowler DM, Gardiner JM. {{Episodic but not semantic order memory difficulties in autism spectrum disorder: Evidence from the Historical Figures Task}}. {Memory};2013 (Jul 1)
Considerable evidence suggests that the episodic memory system operates abnormally in autism spectrum disorder (ASD) whereas the functions of the semantic memory system are relatively preserved. Here we show that the same dissociation also applies to the domain of order memory. We asked adult participants to order the names of famous historical figures either according to their chronological order in history (probing semantic memory) or according to a random sequence shown once on a screen (probing episodic memory). As predicted, adults with ASD performed less well than age- and IQ-matched comparison individuals only on the episodic task. This observation is of considerable importance in the context of developmental theory because semantic and episodic order memory abilities can be dissociated in typically developing infants before they reach the age at which the behavioural markers associated with ASD are first apparent. This raises the possibility that early emerging memory abnormalities play a role in shaping the developmental trajectory of the disorder. We discuss the broader implications of this possibility and highlight the urgent need for greater scrutiny of memory competences in ASD early in development.
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11. Ghaleiha A, Mohammadi E, Mohammadi MR, Farokhnia M, Modabbernia A, Yekehtaz H, Ashrafi M, Hassanzadeh E, Akhondzadeh S. {{Riluzole as an Adjunctive Therapy to Risperidone for the Treatment of Irritability in Children with Autistic Disorder: A Double-Blind, Placebo-Controlled, Randomized Trial}}. {Paediatr Drugs};2013 (Jul 3)
BACKGROUND: A hyperglutamatergic state has been shown to play a possible role in the pathophysiology of autistic disorders. Riluzole is a glutamate-modulating agent with neuroprotective properties, which has been shown to have positive effects in many neuropsychiatric disorders. OBJECTIVE: The aim of this study was to assess the efficacy and tolerability of riluzole as an adjunctive to risperidone in the treatment of irritability in autistic children who were not optimally responding to previous medications. STUDY DESIGN: This was a 10-week, randomized, double-blind, parallel-group, placebo-controlled trial. PARTICIPANTS: The study enrolled male and female outpatients aged 5-12 years with a diagnosis of autistic disorder based on the DSM-IV-TR criteria and a score of >/=12 on the Aberrant Behavior Checklist-Community (ABC-C) irritability subscale who had discontinued other medications because of a lack of efficacy. INTERVENTIONS: Subjects received riluzole (titrated to 50 or 100 mg/day based on bodyweight) or placebo in addition to risperidone (titrated up to 2 or 3 mg/day based on bodyweight) for 10 weeks. OUTCOME: Patients were assessed at baseline, week 5, and week 10. The primary outcome measure was the difference in the change in the ABC-C irritability subscale score from baseline to week 10 between the two groups. We also compared changes in other ABC-C subscale scores and Clinical Global Impressions-Improvement (CGI-I) scale scores between the two groups. RESULTS: Forty-nine patients were enrolled in the study, and forty children completed the trial (dropouts: placebo = 4, riluzole = 5). A significantly greater improvement in the study primary outcome (the ABC-C irritability subscale score) was achieved by the riluzole-treated children compared with the placebo group (P = 0.03). Patients in the riluzole group also showed significantly greater improvement on the lethargy/social withdrawal (P = 0.02), stereotypic behavior (P = 0.03), and hyperactivity/non-compliance subscales (P = 0.005), but not on the inappropriate speech subscale (P = 0.20) than patients in the placebo group. Eleven patients in the riluzole group and five patients in the placebo group were classified as responders based on their CGI-I scores [chi2(1) = 3.750, P = 0.05]. Children in the riluzole group experienced significantly more increases in their appetite and bodyweight than children in the placebo group by the end of the study. CONCLUSION: Riluzole add-on therapy shows several therapeutic outcomes, particularly for improving irritability, in children with autism. However, its add-on to risperidone also results in significantly increased appetite and weight gain.
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12. Grossman RB, Edelson LR, Tager-Flusberg H. {{Emotional facial and vocal expressions during story retelling by children and adolescents with high-functioning autism}}. {J Speech Lang Hear Res};2013 (Jun);56(3):1035-1044.
PURPOSE: People with high-functioning autism (HFA) have qualitative differences in facial expression and prosody production, which are rarely systematically quantified. The authors’ goals were to qualitatively and quantitatively analyze prosody and facial expression productions in children and adolescents with HFA. METHOD: Participants were 22 male children and adolescents with HFA and 18 typically developing (TD) controls (17 males, 1 female). The authors used a story retelling task to elicit emotionally laden narratives, which were analyzed through the use of acoustic measures and perceptual codes. Naive listeners coded all productions for emotion type, degree of expressiveness, and awkwardness. RESULTS: The group with HFA was not significantly different in accuracy or expressiveness of facial productions, but was significantly more awkward than the TD group. Participants with HFA were significantly more expressive in their vocal productions, with a trend for greater awkwardness. Severity of social communication impairment, as captured by the Autism Diagnostic Observation Schedule (ADOS; Lord, Rutter, DiLavore, & Risi, 1999), was correlated with greater vocal and facial awkwardness. CONCLUSIONS: Facial and vocal expressions of participants with HFA were as recognizable as those of their TD peers but were qualitatively different, particularly when listeners coded samples with intact dynamic properties. These preliminary data show qualitative differences in nonverbal communication that may have significant negative impact on the social communication success of children and adolescents with HFA.
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13. Johnson BP, Phillips JG, Papadopoulos N, Fielding J, Tonge B, Rinehart NJ. {{Understanding macrographia in children with autism spectrum disorders}}. {Res Dev Disabil};2013 (Jun 28);34(9):2917-2926.
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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14. Kantzer AK, Fernell E, Gillberg C, Miniscalco C. {{Autism in community pre-schoolers: Developmental profiles}}. {Res Dev Disabil};2013 (Jun 28);34(9):2900-2908.
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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15. Koehler-Platten K, Grow LL, Schulze KA, Bertone T. {{Using a lag reinforcement schedule to increase phonemic variability in children with autism spectrum disorders}}. {Anal Verbal Behav};2013;29(1):71-83.
Shaping functional vocal language is difficult when an individual has not yet acquired an echoic repertoire and does not emit sufficient phonemes (i.e., speech sounds) for shaping. Few studies have evaluated interventions to increase the frequency and breadth of phonemes. The current study extended Esch, Esch, and Love (2009) by evaluating the effects of a Lag 1 reinforcement schedule on vocal variability and limiting the definition of variability to responses that incorporated a novel phoneme. For 2 of the 3 participants, the cumulative number of novel phonemes, the percentage of trials with variability, and the number of different phonemes emitted per session increased during the Lag 1 intervention phase.
16. Koh HC, Lim SH, Chan GJ, Lin MB, Lim HH, Choo SH, Magiati I. {{The Clinical Utility of the Modified Checklist for Autism in Toddlers with High Risk 18-48 Month Old Children in Singapore}}. {J Autism Dev Disord};2013 (Jun 28)
The modified checklist for autism in toddlers (M-CHAT) is a tool developed for 16-30 month old children to screen for autism spectrum disorders (ASD). It is a well-researched tool, but little is known about its utility with Singaporean toddlers and with older children referred for developmental concerns. This study investigated the M-CHAT’s performance with 18-30 month old (N = 173) and >30-48 month old (N = 407) developmentally at-risk Singaporean children, when used with three recommended scoring methods i.e., the total, critical and Best7 scoring methods. The results indicate that the critical and Best7 scoring methods detected most true cases of ASD without inflating the false positive rates in toddlers, and that only the total scoring method performed acceptably for the older children.
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17. Lyall K, Munger KL, O’Reilly EJ, Santangelo SL, Ascherio A. {{Maternal Dietary Fat Intake in Association With Autism Spectrum Disorders}}. {Am J Epidemiol};2013 (Jun 27)
Our goal in this study was to determine whether maternal fat intake before or during pregnancy was associated with risk of autism spectrum disorder (ASD) in the offspring. Our primary analysis included 317 mothers who reported a child with ASD and 17,728 comparison mothers from the Nurses’ Health Study II (index births in 1991-2007). Dietary information was collected prospectively through a validated food frequency questionnaire. Binomial regression was used to estimate crude and adjusted risk ratios. Maternal intake of linoleic acid was significantly inversely associated with ASD risk in offspring, corresponding to a 34% reduction in risk in the highest versus lowest quartiles of intake. Mothers in the lowest 5% of omega-3 fatty acid intake had a significant increase in offspring ASD risk as compared with the remaining distribution (risk ratio = 1.53, 95% confidence interval: 1.00, 2.32); this association was also seen in the subgroup of women (86 cases and 5,798 noncases) for whom dietary information during pregnancy was available (risk ratio = 2.42, 95% confidence interval: 1.19, 4.91). Thus, variations in intake of polyunsaturated fats within the range commonly observed among US women could affect fetal brain development and ASD risk. Because the number of women with diet assessed during pregnancy was small, however, these results should be interpreted cautiously.
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18. Ma WJ, Hashii M, Munesue T, Hayashi K, Yagi K, Yamagishi M, Higashida H, Yokoyama S. {{Non-synonymous single-nucleotide variations of the human oxytocin receptor gene and autism spectrum disorders: a case–control study in a Japanese population and functional analysis}}. {Mol Autism};2013 (Jul 1);4(1):22.
BACKGROUND: The human oxytocin receptor (hOXTR) is implicated in the etiology of autism spectrum disorders (ASDs) and is a potential target for therapeutic intervention. Several studies have reported single-nucleotide polymorphisms (SNPs) of the OXTR gene associated with ASDs. These SNPs, however, reside outside the protein-coding region. Not much is known about genetic variations that cause amino acid substitutions that alter receptor functions. METHODS: Variations in the OXTR gene were analyzed in 132 ASD patients at Kanazawa University Hospital in Japan and 248 unrelated healthy Japanese volunteers by re-sequencing and real-time polymerase chain reaction-based genotyping. Functional changes in variant OXTRs were assessed by radioligand binding assay and measurements of intracellular free calcium concentrations ([Ca2+]i) and inositol 1,4,5-trisphosphate (IP3) levels. RESULTS: Six subjects (4.5%) in the ASD group and two in the control group (0.8%) were identified as heterozygotes carrying the R376G variation (rs35062132; c.1126C > G); one individual from the ASD group (0.8%) and three members of the control group (1.2%) were found to be carrying R376C (c.1126C > T). The C/G genotype significantly correlated with an increased risk of ASDs (odds ratio (OR) = 5.83; 95% confidence interval (CI) = 1.16to29.33; P = 0.024, Fisher’s exact test). Consistently, the G allele showed a correlation with an increased likelihood of ASDs (OR = 5.73; 95% CI = 1.15to28.61; P = 0.024, Fisher’s exact test). The frequencies of the C/T genotype and the T allele in the ASD and control groups did not differ significantly. We also examined changes in agonist-induced cellular responses mediated by the variant receptors hOXTR-376G and hOXTR-376C. OXT-induced receptor internalization and recycling were faster in hOXTR-376G-expressing HEK-293 cells than in cells expressing hOXTR-376R or hOXTR-376C. In addition, the elevation in [Ca2+]i and IP3 formation decreased in the cells expressing hOXTR-376G and hOXTR-376C tagged with enhanced green fluorescent protein (EGFP), in comparison with the cells expressing the common-type hOXTR-376R tagged with EGFP. CONCLUSIONS: These results suggest that the rare genetic variation rs35062132 might contribute to the pathogenesis of ASDs, and could provide a molecular basis of individual differences in OXTR-mediated modulation of social behavior.
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19. 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}}. {Res Dev Disabil};2013 (Jun 28);34(9):3004-3013.
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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20. Mills B, Lai J, Brown TT, Erhart M, Halgren E, Reilly J, Dale A, Appelbaum M, Moses P. {{White Matter Microstructure Correlates of Narrative Production in Typically Developing Children and Children with High Functioning Autism}}. {Neuropsychologia};2013 (Jun 27)
This study investigated the relationship between white matter microstructure and the development of morphosyntax in a spoken narrative in typically developing children (TD) and in children with high functioning autism (HFA). Autism is characterized by language and communication impairments, yet the relationship between morphosyntactic development in spontaneous discourse contexts and neural development is not well understood in either this population or typical development. Diffusion tensor imaging (DTI) was used to assess multiple parameters of diffusivity as indicators of white matter tract integrity in language-related tracts in children between 6 and 13 years of age. Children were asked to spontaneously tell a story about at time when someone made them sad, mad, or angry. The story was evaluated for morphological accuracy and syntactic complexity. Analysis of the relationship between white matter microstructure and language performance in TD children showed that diffusivity correlated with morphosyntax production in the superior longitudinal fasciculus (SLF), a fiber tract traditionally associated with language. At the anatomical level, the HFA group showed abnormal diffusivity in the right inferior longitudinal fasciculus (ILF) relative to the TD group. Within the HFA group, children with greater white matter integrity in the right ILF displayed greater morphological accuracy during their spoken narrative. Overall, the current study shows an association between white matter structure in a traditional language pathway and narrative performance in TD children. In the autism group, associations were only found in the ILF, suggesting that during real world language use, children with HFA rely less on typical pathways and instead rely on alternative ventral pathways that possibly mediate visual elements of language.
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21. Ming X, Sun YM, Nachajon RV, Brimacombe M, Walters AS. {{Prevalence of parasomnia in autistic children with sleep disorders}}. {Clin Med Pediatr};2009;3:1-10.
The prevalence of sleep related complaints is reported by questionnaire studies to be as high as 83.3% in children with autism spectrum disorders (ASD). Questionnaire studies report the presence of various parasomnia in ASD. However, no polysomnographic study reports non-REM parasomnias and only a single study reports REM related parasomnias in ASD. We investigated the prevalence and characteristics of sleep disorders by polysomnographic study and questionnaires in a cohort of 23 children with ASD and 23 age-matched children of a non-autistic comparison group. The results showed significantly more non-REM parasomnias in 14 children with ASD on polysomnograms (PSG) and 16 ASD children by questionnaire, a finding that was not associated with medication use, other comorbid medical or psychiatric disorders, or sleep disordered breathing. Of the 14 children with ASD who had PSG evidence of parasomnia, 11 of them had a history suggestive of parasomnia by questionnaire. There was a high sensitivity but a low specificity of parasomnia in ASD by questionnaire in predicting the presence of parasomnia in the PSG. Of the parasomnias recorded in the laboratory, 13 ASD children had Disorders of Partial Arousal, consistent with sleep terrors or confusional arousals. Furthermore, multiple episodes of partial arousal occurred in 11 of the 13 ASD children who had PSG evidence of Disorders of Partial Arousal. Of the 11 ASD children with multiple episodes of partial arousal, 6 ASD children had multiple partial arousals during both nights’ PSG study. Sleep architecture was abnormal in children with ASD, characterized by increased spontaneous arousals, prolonged REM latency and reduced REM percentage. These results suggest a high prevalence of parasomnia in this cohort of children with ASD and a careful history intake of symptoms compatible with parasomnia could be prudent to diagnose parasomnia in ASD children when performing a PSG is not possible.
22. Monk CS. {{Visual cortex processing in autism spectrum disorders (Commentary on Frey et al.)}}. {Eur J Neurosci};2013 (Jul);38(1):2124.
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23. Oakes A, Kover ST, Abbeduto L. {{Language Comprehension Profiles of Young Adolescents with Fragile X Syndrome}}. {Am J Speech Lang Pathol};2013 (Jun 28)
PURPOSE: The current study sought to characterize the language phenotype of fragile X syndrome (FXS), focusing on the extent of impairment in receptive syntax, within-syndrome variability in those impairments in relation to gender, and the syndrome specificity of those impairments. METHOD: The Test for the Reception of Grammar-2 (Bishop, 2003) was used to examine the overall receptive syntactic skills of adolescents with FXS (n = 35; 30 males), adolescents with Down syndrome (DS; n = 28; 18 males), and younger typically developing children (n = 23; 14 males) matched on nonverbal cognition. Performance on specific grammatical constructions and error types were examined for a subset of matched participants. RESULTS: Participants with FXS had overall receptive syntax scores that were lower than typically children. Males and females with FXS had higher overall receptive syntax scores than participants with DS; however, there was no difference in performance when females were excluded. Grammatical constructions that were especially difficult for those with FXS and DS were identified, especially relative clause constructions and reversible constructions requiring attention to word order encoded by syntactic features. CONCLUSIONS: The current findings have implications for understanding the nature of the language learning difficulties of FXS and for language interventions.
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24. Palmer CJ, Paton B, Hohwy J, Enticott PG. {{Movement under uncertainty: The effects of the rubber-hand illusion vary along the nonclinical autism spectrum}}. {Neuropsychologia};2013 (Jun 26)
Recent research has begun to investigate sensory processing in relation to nonclinical variation in traits associated with the autism spectrum disorders (ASD). We propose that existing accounts of autistic perception can be augmented by considering a role for individual differences in top-down expectations for the precision of sensory input, related to the processing of state-dependent levels of uncertainty. We therefore examined ASD-like traits in relation to the rubber-hand illusion: an experimental paradigm that typically elicits crossmodal integration of visual, tactile, and proprioceptive information in an unusual illusory context. Individuals with higher ASD-like traits showed reduced effects of the rubber-hand illusion on perceived arm position and reach-to-grasp movements, compared to individuals with lower ASD-like traits. These differences occurred despite both groups reporting the typical subjective experience of the illusion concerning visuotactile integration and ownership for the rubber hand. Together these results suggest that the integration of proprioceptive information with cues for arm position derived from the illusory context differs between individuals partly in relation to traits associated with ASD. We suggest that the observed differences in sensory integration can be best explained in terms of differing expectations regarding the precision of sensory estimates in contexts that suggest uncertainty.
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25. 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}}. {Appl Psychophysiol Biofeedback};2013 (Jul 3)
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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26. Ramirez JM, Ward CS, Neul JL. {{Breathing Challenges in Rett Syndrome: Lessons learned from humans and animal models}}. {Respir Physiol Neurobiol};2013 (Jun 28)
Breathing disturbances are a major challenge in Rett Syndrome (RTT). These disturbances are more pronounced during wakefulness; but irregular breathing occurs also during sleep. During the day patients can exhibit alternating bouts of hypoventilation and irregular hyperventilation. But there is significant individual variability in severity, onset, duration and type of breathing disturbances. Research in mouse models of RTT suggests that different areas in the ventrolateral medulla and pons give rise to different aspects of this breathing disorder. Pre-clinical experiments in mouse models that target different neuromodulatory and neurotransmitter receptors and MeCP2 function within glia cells can partly reverse breathing abnormalities. The success in animal models raises optimism that one day it will be possible to control or potentially cure the devastating symptoms also in human patients with RTT.
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27. Reynolds S, Urruela M, Devine DP. {{Effects of Environmental Enrichment on Repetitive Behaviors in the BTBR T+tf/J Mouse Model of Autism}}. {Autism Res};2013 (Jun 28)
Lower order and higher order repetitive behaviors have been documented in the BTBR T+tf/J (BTBR) mouse strain, a mouse model that exhibits all three core behavioral domains that define autism. The purpose of this study was to evaluate the effectiveness of environmental enrichment for reducing repetitive behaviors in BTBR mice. Lower order behaviors were captured by assaying the time and sequence of grooming, while higher order behaviors were measured using pattern analysis of an object exploration task from digital recordings. Baseline scores were established at 7 weeks of age, followed by 30 days of housing in either a standard or enriched cage. As expected, BTBR mice spent significantly more time grooming and had a more rigid grooming sequence than control C57BL/6J mice did at baseline. After 30 days of enrichment housing, BTBR mice demonstrated a significant reduction in time spent grooming, resulting in levels that were lower than those exhibited by BTBR mice in standard housing. However, no changes were noted in the rigidity of their grooming sequence. In contrast to previous findings, there was no difference in repetitive patterns of exploration at baseline between BTBR and C57BL/6J mice in the object exploration test. Subsequently, enrichment did not significantly alter the number of repetitive patterns at posttest. Overall, the results suggest that environmental enrichment may be beneficial for reducing the time spent engaging in lower order repetitive behaviors, but may not change the overall quality of the behaviors when they do manifest. Autism Res 2013, : -. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
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28. Roberts AL, Lyall K, Hart JE, Laden F, Just AC, Bobb JF, Koenen KC, Ascherio A, Weisskopf MG. {{Perinatal Air Pollutant Exposures and Autism Spectrum Disorder in the Children of Nurses’ Health Study II Participants}}. {Environ Health Perspect};2013 (Jun 18)
OBJECTIVE: Air pollution contains many toxicants known to affect neurological function and to have effects on the fetus in utero. Recent studies have reported associations between perinatal exposure to air pollutants and autism spectrum disorder (ASD) in children. We tested the hypothesis that perinatal exposure to air pollutants is associated with ASD, focusing on pollutants associated with ASD in prior studies. METHODS: We estimated associations between U.S. Environmental Protection Agency modeled levels of hazardous air pollutants at the time and place of birth and ASD in the children of participants in the Nurses’ Health Study II (325 cases, 22,101 controls). Our analyses focused on pollutants associated with ASD in prior research. We accounted for possible confounding and ascertainment bias by adjusting for family-level socioeconomic status (maternal grandparents’ education) and census-tract-level socioeconomic measures (e.g., tract median income and percent college educated), as well as maternal age at birth and year of birth. We also examined possible differences in the relationship between ASD and pollutant exposures by child’s sex. RESULTS: Perinatal exposures to the highest versus lowest quintile of diesel, lead, manganese, mercury, methylene chloride, and an overall measure of metals were significantly associated with ASD, with odds ratios ranging from 1.5 (for overall metals measure) to 2.0 (for diesel and mercury). In addition, linear trends were positive and statistically significant for these exposures (P <.05 for each). For most pollutants, associations were stronger for boys (279 cases) than girls (46 cases) and significantly different according to sex. CONCLUSIONS: Perinatal exposure to air pollutants may increase risk for ASD. Additionally, future studies should consider sex-specific biological pathways connecting perinatal exposure to pollutants with ASD.
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29. Sandin S, Nygren KG, Iliadou A, Hultman CM, Reichenberg A. {{Autism and Mental Retardation Among Offspring Born After In Vitro Fertilization}}. {JAMA};2013 (Jul 3);310(1):75-84.
IMPORTANCE Between 1978 and 2010, approximately 5 million infants were born after in vitro fertilization (IVF) treatments. Yet limited information on neurodevelopment after IVF exists, especially after the first year of life. OBJECTIVE To examine the association between use of any IVF and different IVF procedures and the risk of autistic disorder and mental retardation in the offspring. DESIGN, SETTING, AND PARTICIPANTS A population-based, prospective cohort study using Swedish national health registers. Offspring born between 1982 and 2007 were followed up for a clinical diagnosis of autistic disorder or mental retardation until December 31, 2009. The exposure of interest was IVF, categorized according to whether intracytoplasmic sperm injection (ICSI) for male infertility was used and whether embryos were fresh or frozen. For ICSI, whether sperm were ejaculated or surgically extracted was also considered. MAIN OUTCOMES AND MEASURES Relative risks (RRs) for autistic disorder and mental retardation and rates per 100 000 person-years, comparing spontaneously conceived offspring with those born after an IVF procedure and comparing 5 IVF procedures used in Sweden vs IVF without ICSI with fresh embryo transfer, the most common treatment. We also analyzed the subgroup restricted to singletons. RESULTS Of the more than 2.5 million infants born, 30 959 (1.2%) were conceived by IVF and were followed up for a mean 10 (SD, 6) years. Overall, 103 of 6959 children (1.5%) with autistic disorder and 180 of 15 830 (1.1%) with mental retardation were conceived by IVF. The RR for autistic disorder after any procedure compared with spontaneous conception was 1.14 (95% CI, 0.94-1.39; 19.0 vs 15.6 per 100 000 person-years). The RR for mental retardation was 1.18 (95% CI, 1.01-1.36; 46.3 vs 39.8 per 100 000 person-years). For both outcomes, there was no statistically significant association when restricting analysis to singletons. Compared with IVF without ICSI with fresh embryo transfer, there were statistically significantly increased risks of autistic disorder following ICSI using surgically extracted sperm and fresh embryos (RR, 4.60 [95% CI, 2.14-9.88]; 135.7 vs 29.3 per 100 000 person-years); for mental retardation following ICSI using surgically extracted sperm and fresh embryos (RR, 2.35 [95% CI, 1.01-5.45]; 144.1 vs 60.8 per 100 000 person-years); and following ICSI using ejaculated sperm and fresh embryos (RR, 1.47 [95% CI, 1.03-2.09]; 90.6 vs 60.8 per 100 000 person-years). When restricting the analysis to singletons, the risks of autistic disorder associated with ICSI using surgically extracted sperm were not statistically significant, but the risks associated with ICSI using frozen embryos were significant for mental retardation (with frozen embryos, RR, 2.36 [95% CI, 1.04-5.36], 118.4 vs 50.6 per 100 000 person-years]; with fresh embryos, RR, 1.60 [95% CI, 1.00-2.57], 80.0 vs 50.6 per 100 000 person-years). CONCLUSIONS AND RELEVANCE Compared with spontaneous conception, IVF treatment overall was not associated with autistic disorder but was associated with a small but statistically significantly increased risk of mental retardation. For specific procedures, IVF with ICSI for paternal infertility was associated with a small increase in the RR for autistic disorder and mental retardation compared with IVF without ICSI. The prevalence of these disorders was low, and the increase in absolute risk associated with IVF was small.
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30. Semrud-Clikeman M, Fine JG, Bledsoe J. {{Comparison Among Children with Children with Autism Spectrum Disorder, Nonverbal Learning Disorder and Typically Developing Children on Measures of Executive Functioning}}. {J Autism Dev Disord};2013 (Jun 29)
It has been suggested that children with nonverbal learning disabilities (NLD) or Asperger’s Syndrome (AS) may show difficulties with executive functioning. There were 3 groups in this study who completed a neuropsychological battery of visual-spatial, executive functioning, and reasoning tasks; AS (n = 37), NLD (n = 31), and controls (n = 40). Results indicated that children in both clinical groups scored within average limits on measures of spatial reasoning and verbal ability. Fluid reasoning was also found to be within average ranges for all groups. The AS group experienced significant problems with cognitive flexibility compared to the other two groups. In contrast the NLD group showed fewer difficulties with cognitive flexibility but more problems with visual sequencing. These findings suggest that performance on executive function measures for children with AS or NLD is remarkably similar with subtle differences present.
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31. Shillingsburg MA, Powell NM, Bowen CN. {{Teaching children with autism spectrum disorders to mand for the removal of stimuli that prevent access to preferred items}}. {Anal Verbal Behav};2013;29(1):51-57.
Mand training is often a primary focus in early language instruction and typically includes mands that are positively reinforced. However, mands maintained by negative reinforcement are also important skills to teach. These include mands to escape aversive demands or unwanted items. Another type of negatively reinforced mand important to teach involves the removal of a stimulus that prevents access to a preferred activity. We taught 5 participants diagnosed with autism spectrum disorders to mand for the removal of a stimulus in order to access a preferred item that had been blocked. An evaluation was conducted to determine if participants responded differentially when the establishing operations for the preferred item were present versus absent. All participants learned to mand for the removal of the stimulus exclusively under conditions when the establishing operation was present.
32. Stichter JP, Laffey J, Galyen K, Herzog M. {{iSocial: Delivering the Social Competence Intervention for Adolescents (SCI-A) in a 3D Virtual Learning Environment for Youth with High Functioning Autism}}. {J Autism Dev Disord};2013 (Jun 28)
One consistent area of need for students with autism spectrum disorders is in the area of social competence. However, the increasing need to provide qualified teachers to deliver evidence-based practices in areas like social competence leave schools, such as those found in rural areas, in need of support. Distance education and in particular, 3D Virtual Learning, holds great promise for supporting schools and youth to gain social competence through knowledge and social practice in context. iSocial, a distance education, 3D virtual learning environment implemented the 31-lesson social competence intervention for adolescents across three small cohorts totaling 11 students over a period of 4 months. Results demonstrated that the social competence curriculum was delivered with fidelity in the 3D virtual learning environment. Moreover, learning outcomes suggest that the iSocial approach shows promise for social competence benefits for youth.
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33. Valkanova V, Rhodes F, Allan CL. {{Diagnosis and management of autism in adults}}. {Practitioner};2013 (May);257(1761):13-16, 12-13.
Autism affects 1.1% of the adult population. The spectrum of symptoms is wide; some individuals have above average intelligence and are fully independent, while others have limited independence because of a learning disability. Developmental delay is a core feature, and autism is usually diagnosed in childhood. High-functioning individuals with autism, Asperger’s syndrome, may remain undiagnosed until adulthood. Autism is a life-long condition characterised by problems in two core dimensions: difficulties with social communication and strongly repetitive behaviour, resistance to change or restricted interests.The history should identify early developmental and behavioural problems in different settings e.g. at home, in education or employment. Sensory and GI problems are very common, and should be asked about. The Autism-Spectrum Quotient (AQ-10) is a 10-item questionnaire for people with suspected autism. The advantage of using this in primary care is that it provides a time-efficient, structured way of ascertaining key symptoms and clearly signals those who should be referred for further assessment. Patients should be referred if autism is suspected clinically and a diagnosis of autism should be confirmed by a specialist multidisciplinary team. If a diagnosis of autism is made, clinicians should do a risk assessment and formulate risk and crisis management plans. These should include details of the roles and responsibilities of both the specialist team and primary care team in managing crisis situations. For adults with autism a group-based or an individual learning programme to improve social interaction is recommended. Adults with autism have high rates of unemployment, and employment programmes have been successfully used to support people
34. Van Hecke AV, Stevens S, Carson AM, Karst JS, Dolan B, Schohl K, McKindles RJ, Remmel R, Brockman S. {{Measuring the Plasticity of Social Approach: A Randomized Controlled Trial of the Effects of the PEERS Intervention on EEG Asymmetry in Adolescents with Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Jun 28)
This study examined whether the Program for the Education and Enrichment of Relational Skills (PEERS: Social skills for teenagers with developmental and autism spectrum disorders: The PEERS treatment manual, Routledge, New York, 2010a) affected neural function, via EEG asymmetry, in a randomized controlled trial of adolescents with Autism spectrum disorders (ASD) and a group of typically developing adolescents. Adolescents with ASD in PEERS shifted from right-hemisphere gamma-band EEG asymmetry before PEERS to left-hemisphere EEG asymmetry after PEERS, versus a waitlist ASD group. Left-hemisphere EEG asymmetry was associated with more social contacts and knowledge, and fewer symptoms of autism. Adolescents with ASD in PEERS no longer differed from typically developing adolescents in left-dominant EEG asymmetry at post-test. These findings are discussed via the Modifier Model of Autism (Mundy et al. in Res Pract Persons Severe Disabl 32(2):124, 2007), with emphasis on remediating isolation/withdrawal in ASD.
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35. Vandermeer J, Beamish W, Milford T, Lang W. {{iPad-presented social stories for young children with autism}}. {Dev Neurorehabil};2013 (Jul 1)
Abstract Objective: This study investigated the effectiveness of iPad-presented social stories in increasing the on-task behaviour of three young children with autism. Method: A single-subject with multiple baseline across participants design was employed with three 4-year-old children to assess intervention effectiveness during structured table top activities. Observational data were digitally recorded, scored, graphed, and interpreted using 10-second interval measures over 5-min periods across baseline, intervention, and withdrawal phases. Results: The combination of the social story together with the iPad proved to be an effective intervention for one of the three child participants. These findings confirm that the intervention may be effective with some children, but not others. Conclusion: Overall, this study builds on existing research that supports social stories as a promising practice. Further research into the use of iPad-presented social stories, particularly for children of varying ages, abilities, and learning styles is recommended.
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36. Wachtel LE, Reti IM, Ying H. {{Stability of Intraocular Pressure After Retinal Reattachment Surgery During Electroconvulsive Therapy for Intractable Self-Injury in a 12-Year-Old Autistic Boy}}. {J ECT};2013 (Jun 27)
We present a 12-year-old autistic boy who underwent electroconvulsive therapy (ECT) for intractable self-injury toward his head and eyes in the context of acute bilateral retinal detachment and reparative surgery. The patient received 3 ECTs before retinal reattachment surgery, and resumed ECT 2 weeks postoperatively. Bilateral intraocular pressures were monitored before and after the first 7 ECTs and intermittently after ECT for 10 months of maintenance ECT. There was no evidence of sustained intraocular pressure elevation or instability. This report supports the safety of ECT for repetitive self-injury in youth before and after emergent ophthalmologic surgery for trauma-related injury.
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37. Yi L, Pan J, Fan Y, Zou X, Wang X, Lee K. {{Children with autism spectrum disorder are more trusting than typically developing children}}. {J Exp Child Psychol};2013 (Jun 27)
The current study examined whether children with autism spectrum disorder (ASD) had an indiscriminate trust bias whereby they would believe any information provided by an unfamiliar adult with whom they had no interactive history. Young school-aged children with ASD and their age- and ability-matched typically developing (TD) peers participated in a simple hide-and-seek game. In the game, an experimenter with whom the children had no previous interactive history pointed to or left a marker on a box to indicate the whereabouts of a hidden reward. Results showed that although young school-aged ASD children did not blindly trust any information provided by the unfamiliar adult, they appeared to be more trusting in the adult informant than did their age- and ability-matched TD children.
