1. {{International society for autism research news}}. {Autism Res};2015 (Feb);8(1):122.
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2. Barbeau EB, Meilleur AA, Zeffiro TA, Mottron L. {{Comparing Motor Skills in Autism Spectrum Individuals With and Without Speech Delay}}. {Autism Res};2015 (Mar 29)
Movement atypicalities in speed, coordination, posture, and gait have been observed across the autism spectrum (AS) and atypicalities in coordination are more commonly observed in AS individuals without delayed speech (DSM-IV Asperger) than in those with atypical or delayed speech onset. However, few studies have provided quantitative data to support these mostly clinical observations. Here, we compared perceptual and motor performance between 30 typically developing and AS individuals (21 with speech delay and 18 without speech delay) to examine the associations between limb movement control and atypical speech development. Groups were matched for age, intelligence, and sex. The experimental design included: an inspection time task, which measures visual processing speed; the Purdue Pegboard, which measures finger dexterity, bimanual performance, and hand-eye coordination; the Annett Peg Moving Task, which measures unimanual goal-directed arm movement; and a simple reaction time task. We used analysis of covariance to investigate group differences in task performance and linear regression models to explore potential associations between intelligence, language skills, simple reaction time, and visually guided movement performance. AS participants without speech delay performed slower than typical participants in the Purdue Pegboard subtests. AS participants without speech delay showed poorer bimanual coordination than those with speech delay. Visual processing speed was slightly faster in both AS groups than in the typical group. Altogether, these results suggest that AS individuals with and without speech delay differ in visually guided and visually triggered behavior and show that early language skills are associated with slower movement in simple and complex motor tasks. 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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3. Bhat A, Bubela D. {{Commentary on « a therapeutic skating intervention for children with autism spectrum disorder »}}. {Pediatr Phys Ther};2015 (Summer);27(2):177.
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4. Blackmon K. {{Structural MRI biomarkers of shared pathogenesis in autism spectrum disorder and epilepsy}}. {Epilepsy Behav};2015 (Mar 23)
Etiological factors that contribute to a high comorbidity between autism spectrum disorder (ASD) and epilepsy are the subject of much debate. Does epilepsy cause ASD or are there common underlying brain abnormalities that increase the risk of developing both disorders? This review summarizes evidence from quantitative MRI studies to suggest that abnormalities of brain structure are not necessarily the consequence of ASD and epilepsy but are antecedent to disease expression. Abnormal gray and white matter volumes are present prior to onset of ASD and evident at the time of onset in pediatric epilepsy. Aberrant brain growth trajectories are also common in both disorders, as evidenced by blunted gray matter maturation and white matter maturation. Although the etiological factors that explain these abnormalities are unclear, high heritability estimates for gray matter volume and white matter microstructure demonstrate that genetic factors assert a strong influence on brain structure. In addition, histopathological studies of ASD and epilepsy brain tissue reveal elevated rates of malformations of cortical development (MCDs), such as focal cortical dysplasia and heterotopias, which supports disruption of neuronal migration as a contributing factor. Although MCDs are not always visible on MRI with conventional radiological analysis, quantitative MRI detection methods show high sensitivity to subtle malformations in epilepsy and can be potentially applied to MCD detection in ASD. Such an approach is critical for establishing quantitative neuroanatomic endophenotypes that can be used in genetic research. In the context of emerging drug treatments for seizures and autism symptoms, such as rapamycin and rapalogs, in vivo neuroimaging markers of subtle structural brain abnormalities could improve sample stratification in human clinical trials and potentially extend the range of patients that might benefit from treatment. This article is part of a Special Issue entitled « Autism and Epilepsy ».
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5. Bodner KE, Engelhardt CR, Minshew NJ, Williams DL. {{Making Inferences: Comprehension of Physical Causality, Intentionality, and Emotions in Discourse by High-Functioning Older Children, Adolescents, and Adults with Autism}}. {J Autism Dev Disord};2015 (Mar 31)
Studies investigating inferential reasoning in autism spectrum disorder (ASD) have focused on the ability to make socially-related inferences or inferences more generally. Important variables for intervention planning such as whether inferences depend on physical experiences or the nature of social information have received less consideration. A measure of bridging inferences of physical causation, mental states, and emotional states was administered to older children, adolescents, and adults with and without ASD. The ASD group had more difficulty making inferences, particularly related to emotional understanding. Results suggest that individuals with ASD may not have the stored experiential knowledge that specific inferences depend upon or have difficulties accessing relevant experiences due to linguistic limitations. Further research is needed to tease these elements apart.
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6. Casey AF, Quenneville-Himbeault G, Normore A, Davis H, Martell SG. {{A therapeutic skating intervention for children with autism spectrum disorder}}. {Pediatr Phys Ther};2015 (Summer);27(2):170-177.
PURPOSE: The purpose of this study was to evaluate the effects of a highly structured therapeutic skating intervention on motor outcomes and functional capacity in 2 boys with autism spectrum disorder aged 7 and 10 years. METHODS: This multiple-baseline, single-subject study assigned participants to three 1-hour skating sessions per week for 12 weeks focusing on skill and motor development. Multiple data points assessed (a) fidelity to the intervention and (b) outcomes measures including the Pediatric Balance Scale, Timed Up and Go, floor to stand, Six-Minute Walk Test, goal attainment, and weekly on-ice testing. RESULTS: Improvements were found in balance, motor behavior, and functional capacity by posttest with gains remaining above pretest levels at follow-up. CONCLUSIONS: Therapeutic skating may produce physical benefits for children with autism spectrum disorder and offer a viable, inexpensive community-based alternative to other forms of physical activity.
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7. Chien HY, Gau SS, Hsu YC, Chen YJ, Lo YC, Shih YC, Tseng WY. {{Altered Cortical Thickness and Tract Integrity of the Mirror Neuron System and Associated Social Communication in Autism Spectrum Disorder}}. {Autism Res};2015 (Mar 28)
Previous studies using neural activity recording and neuroimaging techniques have reported functional deficits in the mirror neuron system (MNS) for individuals with autism spectrum disorder (ASD). However, a few studies focusing on gray and white matter structures of the MNS have yielded inconsistent results. The current study recruited adolescents and young adults with ASD (aged 15-26 years) and age-matched typically developing (TD) controls (aged 14-25 years). The cortical thickness (CT) and microstructural integrity of the tracts connecting the regions forming the classical MNS were investigated. High-resolution T1-weighted imaging and diffusion spectrum imaging were performed to quantify the CT and tract integrity, respectively. The structural covariance of the CT of the MNS regions revealed a weaker coordination of the MNS network in ASD. A strong correlation was found between the integrity of the right frontoparietal tracts and the social communication subscores measured by the Chinese version of the Social Communication Questionnaire. The results showed that there were no significant mean differences in the CTs and tract integrity between the ASD and TD groups, but revealed a moderate or even reverse age effect on the frontal MNS structures in ASD. In conclusion, aberrant structural coordination may be an underlying factor affecting the function of the MNS in ASD patients. The association between the right frontoparietal tracts and social communication performance implies a neural correlate of communication processing in the autistic brain. This study provides evidence of abnormal MNS structures and their influence on social communication in individuals with ASD. Autism Res 2015,. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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8. Cianfaglione R, Clarke A, Kerr M, Hastings RP, Oliver C, Felce D. {{A national survey of Rett syndrome: Age, clinical characteristics, current abilities, and health}}. {Am J Med Genet A};2015 (Mar 28)
As part of a wider study to investigate the behavioral phenotype of a national sample of girls and women with Rett syndrome (RTT) in comparison to a well-chosen contrast group and its relationship to parental well-being, the development, clinical severity, current abilities and health of 91 participants were analyzed in relation to diagnostic, clinical and genetic mutation categories. Early truncating mutations or large deletions were associated with greater severity. Early regression was also associated with greater severity. All three were associated with lower current abilities. Epilepsy and weight, gastrointestinal and bowel problems were common co-morbidities. Participants with classic RTT had greater health problems than those with atypical RTT. A substantial minority of respondents reported fairly frequent signs of possible pain experienced by their relative with RTT. Overall, the study provides new data on the current abilities and general health of people with RTT and adds to the evidence that the severity of the condition and variation of subsequent disability, albeit generally within the profound range, may be related to gene mutation. The presence of certain co-morbidities represents a substantial ongoing need for better health. The experience of pain requires further investigation. (c) 2015 Wiley Periodicals, Inc.
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9. Corcoran J, Berry A, Hill S. {{The lived experience of US parents of children with autism spectrum disorders: A systematic review and meta-synthesis}}. {J Intellect Disabil};2015 (Mar 27)
Current US statistics indicate that 1 in 68 children is diagnosed with an autistic spectrum disorder (Centers for Disease Control (2014) Prevalence of autism spectrum disorder among children aged 8 years-autism and developmental disabilities monitoring network, 11 Sites, United States, 2010. Morbidity and Mortality Weekly Report (MMWR)). The lived experience of parents with children diagnosed with autism spectrum disorder is important to know since quantitative studies have indicated that higher rates of mental disorders exist in this population as compared to parents of typically developing children (Yirmiya and Shaked (2005) Psychiatric disorders in parents of children with autism: a meta-analysis. Journal of Child Psychology and Psychiatry 46: 69-83). This study was a meta-synthesis of the qualitative literature in this area embedded within a systematic review. A comprehensive search and review yielded 14 studies. A total of six major themes were identified: (a) emotional stress and strain; (b) adaptation; (c) impact on the family; (d) services; (e) stigmatization; and (f) appreciating the little things. Implications of these results are discussed.
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10. Costa L, Sardone LM, Lacivita E, Leopoldo M, Ciranna L. {{Novel agonists for serotonin 5-HT7 receptors reverse metabotropic glutamate receptor-mediated long-term depression in the hippocampus of wild-type and Fmr1 KO mice, a model of Fragile X Syndrome}}. {Front Behav Neurosci};2015;9:65.
Serotonin 5-HT7 receptors are expressed in the hippocampus and modulate the excitability of hippocampal neurons. We have previously shown that 5-HT7 receptors modulate glutamate-mediated hippocampal synaptic transmission and long-term synaptic plasticity. In particular, we have shown that activation of 5-HT7 receptors reversed metabotropic glutamate receptor-mediated long-term depression (mGluR-LTD) in wild-type (wt) and in Fmr1 KO mice, a mouse model of Fragile X Syndrome in which mGluR-LTD is abnormally enhanced, suggesting that 5-HT7 receptor agonists might be envisaged as a novel therapeutic strategy for Fragile X Syndrome. In this perspective, we have characterized the basic in vitro pharmacokinetic properties of novel molecules with high binding affinity and selectivity for 5-HT7 receptors and we have tested their effects on synaptic plasticity using patch clamp on acute hippocampal slices. Here we show that LP-211, a high affinity selective agonist of 5-HT7 receptors, reverses mGluR-LTD in wt and Fmr1 KO mice, correcting a synaptic malfunction in the mouse model of Fragile X Syndrome. Among novel putative agonists of 5-HT7 receptors, the compound BA-10 displayed improved affinity and selectivity for 5-HT7 receptors and improved in vitro pharmacokinetic properties with respect to LP-211. BA-10 significantly reversed mGluR-LTD in the CA3-CA1 synapse in wt and Fmr1KO mice, indicating that BA-10 behaved as a highly effective agonist of 5-HT7 receptors and reduced exaggerated mGluR-LTD in a mouse model of Fragile X Syndrome. On the other side, the compounds RA-7 and PM-20, respectively arising from in vivo metabolism of LP-211 and BA-10, had no effect on mGluR-LTD thus did not behave as agonists of 5-HT7 receptors in our conditions. The present results provide information about the structure-activity relationship of novel 5-HT7 receptor agonists and indicate that LP-211 and BA-10 might be used as novel pharmacological tools for the therapy of Fragile X Syndrome.
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11. Danforth AL, Struble CM, Yazar-Klosinski B, Grob CS. {{MDMA-assisted therapy: A new treatment paradigm for autistic adults with social anxiety}}. {Prog Neuropsychopharmacol Biol Psychiatry};2015 (Mar 25)
The first study of 3,4-methylenedioxymethamphetamine (MDMA)-assisted therapy for the treatment of social anxiety in autistic adults commenced in the spring of 2014. The search for psychotherapeutic options for autistic individuals is imperative considering the lack of effective conventional treatments for mental health diagnoses that are common in this population. Serious Adverse Events (SAEs) involving the administration of MDMA in clinical trials have been rare and non-life threatening. To date, MDMA has been administered to over 1133 individuals for research purposes without the occurrence of unexpected drug-related SAEs that require expedited reporting per FDA regulations. Now that safety parameters for limited use of MDMA in clinical settings have been established, a case can be made to further develop MDMA-assisted therapeutic interventions that could support autistic adults in increasing social adaptability among the typically developing population. As in the case with classic hallucinogens and other psychedelic drugs, MDMA catalyzes shifts toward openness and introspection that do not require ongoing administration to achieve lasting benefits. This infrequent dosing mitigates adverse event frequency and improves the risk/benefit ratio of MDMA, which may provide a significant advantage over medications that require daily dosing. Consequently, clinicians could employ new treatment models for social anxiety or similar types of distress administering MDMA on one to several occasions within the context of a supportive and integrative psychotherapy protocol.
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12. de Schipper E, Lundequist A, Coghill D, de Vries PJ, Granlund M, Holtmann M, Jonsson U, Karande S, Robison JE, Shulman C, Singhal N, Tonge B, Wong VC, Zwaigenbaum L, Bolte S. {{Ability and Disability in Autism Spectrum Disorder: A Systematic Literature Review Employing the International Classification of Functioning, Disability and Health-Children and Youth Version}}. {Autism Res};2015 (Mar 28)
OBJECTIVE: This study is the first in a series of four empirical investigations to develop International Classification of Functioning, Disability and Health (ICF) Core Sets for Autism Spectrum Disorder (ASD). The objective was to use a systematic review approach to identify, number, and link functional ability and disability concepts used in the scientific ASD literature to the nomenclature of the ICF-CY (Children and Youth version of the ICF, covering the life span). METHODS: Systematic searches on outcome studies of ASD were carried out in Medline/PubMed, PsycINFO, ERIC and Cinahl, and relevant functional ability and disability concepts extracted from the included studies. These concepts were then linked to the ICF-CY by two independent researchers using a standardized linking procedure. New concepts were extracted from the studies until saturation of identified ICF-CY categories was reached. RESULTS: Seventy-one studies were included in the final analysis and 2475 meaningful concepts contained in these studies were linked to 146 ICF-CY categories. Of these, 99 categories were considered most relevant to ASD (i.e., identified in at least 5% of the studies), of which 63 were related to Activities and Participation, 28 were related to Body functions, and 8 were related to Environmental factors. The five most frequently identified categories were basic interpersonal interactions (51%), emotional functions (49%), complex interpersonal interactions (48%), attention functions (44%), and mental functions of language (44%). CONCLUSION: The broad variety of ICF-CY categories identified in this study reflects the heterogeneity of functional differences found in ASD-both with respect to disability and exceptionality-and underlines the potential value of the ICF-CY as a framework to capture an individual’s functioning in all dimensions of life. The current results in combination with three additional preparatory studies (expert survey, focus groups, and clinical study) will provide the scientific basis for defining the ICF Core Sets for ASD for multipurpose use in basic and applied research and every day clinical practice of ASD. 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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13. DeMand A, Johnson C, Foldes E. {{Psychometric Properties of the Brief Autism Mealtime Behaviors Inventory}}. {J Autism Dev Disord};2015 (Mar 27)
The purpose of this study was to explore the psychometric properties of the Brief Autism Mealtime Behaviors Inventory (BAMBI). In a sample of 273 well-characterized children with ASD, we explored the factor structure of the BAMBI, determined the internal consistency of a newly derived factor structure and provide an empirically derived cut-off for the BAMBI total score. The new psychometrically identified structure consists of 4 factors: (1) Food Selectivity, (2) Disruptive Mealtime Behaviors, (3) Food Refusal and (4) Mealtime Rigidity. Internal consistency was acceptable. A cut off score of 34 is suggested based on our results. The new 15-item BAMB with an alternative 4-factor structure with clinical utility is promising in assessing feeding and mealtime problems in children with ASD.
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14. Erstenyuk V, Swanson MR, Siller M. {{Pupillary responses during a joint attention task are associated with nonverbal cognitive abilities and sub-clinical symptoms of autism}}. {Res Autism Spectr Disord};2014 (Jun 1);8(6):644-653.
Measures of pupillary dilation provide a temporally sensitive, quantitative indicator of cognitive resource allocation. The current study included 39 typically developing children between 3 and 9 years of age. Children completed a free-viewing task designed to elicit gaze following, a core deficit of Autism Spectrum Disorders (ASD). Results revealed a negative association between children’s pupil dilation and a standardized measure of nonverbal intelligence, suggesting that children with lower intelligence allocated more cognitive resources than children with higher intelligence. In addition, the results revealed a negative association between pupil dilation and a parent-report measure of sub-clinical symptoms of ASD, suggesting that children with fewer ASD-related symptoms allocated more cognitive resources than children who showed more sub-clinical symptoms of ASD. Both associations were independent of each other and could not be explained by variation in chronological age. These findings extend previous research demonstrating associations between basic aspects of visual processing and intelligence. In addition, these findings comport with recent theories of ASD that emphasize reduced sensitivity to the reward value of social situations. When confronted with social ambiguity, children with more ASD-related symptoms allocated fewer cognitive resources to resolving this ambiguity than children who showed fewer sub-clinical symptoms of ASD.
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15. Fein E. {{Making Meaningful Worlds: Role-Playing Subcultures and the Autism Spectrum}}. {Cult Med Psychiatry};2015 (Mar 27)
Every summer, a group of role-playing gamers gathers in an American town. Dressed up as moon goddesses, mad scientists, and other fantastical characters, they act out elaborate, improvised narratives of transformation, destruction, and redemption. For several summers, this group, who I call the Journeyfolk, ran a camp for teenagers on the autism spectrum, engaging campers in therapeutic reconfigurations of self and social role. Through this folk healing practice, the meaning of autism was itself transformed; what had been a source of isolation became a source of commonality and community. This paper takes the camp as a case study for examining the co-productive relationship between culture and neurodiversity. Cognitive tendencies often found in autism are often thought to preclude socio-cultural participation. However, such tendencies can also facilitate the co-creation of innovative cultural spaces, through processes of affinity and affiliation. Drawing on ethnographic fieldwork at the camp, I identify three sites of congruity between the culture of the camp and the cognitive and phenomenological experiences associated with autism, at which this « work of culture » (Obeysekere in The Work of Culture: Symbolic Transformation in Psychoanalysis and Anthropology, University of Chicago Press, Chicago, 1990) took place: the structure of social interactions within roleplaying games, the narratives enacted within these games, and the interpersonal relationships within which the games were embedded.
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16. Grice SJ, Liu JL, Webber C. {{Synergistic Interactions between Drosophila Orthologues of Genes Spanned by De Novo Human CNVs Support Multiple-Hit Models of Autism}}. {PLoS Genet};2015 (Feb);11(3):e1004998.
Autism spectrum disorders (ASDs) are highly heritable and characterised by deficits in social interaction and communication, as well as restricted and repetitive behaviours. Although a number of highly penetrant ASD gene variants have been identified, there is growing evidence to support a causal role for combinatorial effects arising from the contributions of multiple loci. By examining synaptic and circadian neurological phenotypes resulting from the dosage variants of unique human:fly orthologues in Drosophila, we observe numerous synergistic interactions between pairs of informatically-identified candidate genes whose orthologues are jointly affected by large de novo copy number variants (CNVs). These CNVs were found in the genomes of individuals with autism, including a patient carrying a 22q11.2 deletion. We first demonstrate that dosage alterations of the unique Drosophila orthologues of candidate genes from de novo CNVs that harbour only a single candidate gene display neurological defects similar to those previously reported in Drosophila models of ASD-associated variants. We then considered pairwise dosage changes within the set of orthologues of candidate genes that were affected by the same single human de novo CNV. For three of four CNVs with complete orthologous relationships, we observed significant synergistic effects following the simultaneous dosage change of gene pairs drawn from a single CNV. The phenotypic variation observed at the Drosophila synapse that results from these interacting genetic variants supports a concordant phenotypic outcome across all interacting gene pairs following the direction of human gene copy number change. We observe both specificity and transitivity between interactors, both within and between CNV candidate gene sets, supporting shared and distinct genetic aetiologies. We then show that different interactions affect divergent synaptic processes, demonstrating distinct molecular aetiologies. Our study illustrates mechanisms through which synergistic effects resulting from large structural variation can contribute to human disease.
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17. Hahn N, Snedeker J, Rabagliati H. {{Rapid Linguistic Ambiguity Resolution in Young Children with Autism Spectrum Disorder: Eye Tracking Evidence for the Limits of Weak Central Coherence}}. {Autism Res};2015 (Mar 28)
Individuals with autism spectrum disorders (ASD) have often been reported to have difficulty integrating information into its broader context, which has motivated the Weak Central Coherence theory of ASD. In the linguistic domain, evidence for this difficulty comes from reports of impaired use of linguistic context to resolve ambiguous words. However, recent work has suggested that impaired use of linguistic context may not be characteristic of ASD, and is instead better explained by co-occurring language impairments. Here, we provide a strong test of these claims, using the visual world eye tracking paradigm to examine the online mechanisms by which children with autism resolve linguistic ambiguity. To address concerns about both language impairments and compensatory strategies, we used a sample whose verbal skills were strong and whose average age (7; 6) was lower than previous work on lexical ambiguity resolution in ASD. Participants (40 with autism and 40 controls) heard sentences with ambiguous words in contexts that either strongly supported one reading or were consistent with both (John fed/saw the bat). We measured activation of the unintended meaning through implicit semantic priming of an associate (looks to a depicted baseball glove). Contrary to the predictions of weak central coherence, children with ASD, like controls, quickly used context to resolve ambiguity, selecting appropriate meanings within a second. We discuss how these results constrain the generality of weak central coherence. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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18. Kasari C, Gulsrud A, Paparella T, Hellemann G, Berry K. {{Randomized Comparative Efficacy Study of Parent-Mediated Interventions for Toddlers With Autism}}. {J Consult Clin Psychol};2015 (Mar 30)
OBJECTIVE: This study compared effects of two parent-mediated interventions on joint engagement outcomes as augmentations of an early intervention program for toddlers with autism spectrum disorder (ASD). METHOD: Participants included 86 toddlers (range 22-36 months) with ASD and their primary caregiver. Caregiver-child dyads were randomized to receive 10 weeks of hands-on parent training in a naturalistic, developmental behavioral intervention (joint attention, symbolic play, engagement and regulation-JASPER) or a parent-only psychoeducational intervention (PEI). Dose was controlled in terms of researcher-parent contact and early intervention services received by the child. RESULTS: Results yielded significant effects of the JASPER intervention on the primary outcome of joint engagement. The treatment effect was large (Cohen’s f2 = .69) and maintained over the 6-month follow-up. JASPER effects were also found on secondary outcomes of play diversity, highest play level achieved, and generalization to the child’s classroom for child-initiated joint engagement. The PEI intervention was found to be effective in reducing parenting stress associated with child characteristics. All secondary effects were generally small to moderate. CONCLUSIONS: These data highlight the benefit of a brief, targeted, parent-mediated intervention on child outcomes. Future studies may consider the combination of JASPER and PEI treatments for optimal parent and child outcomes. Trial registry no. NCT00999778. (PsycINFO Database Record
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19. Kirsten TB, Queiroz-Hazarbassanov N, Bernardi MM, Felicio LF. {{Prenatal zinc prevents communication impairments and BDNF disturbance in a rat model of autism induced by prenatal lipopolysaccharide exposure}}. {Life Sci};2015 (Mar 25)
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20. Levin AR, Nelson CA. {{Inhibition-Based Biomarkers for Autism Spectrum Disorder}}. {Neurotherapeutics};2015 (Mar 27)
Autism spectrum disorder (ASD) is a behaviorally defined and heterogeneous disorder. Biomarkers for ASD offer the opportunity to improve prediction, diagnosis, stratification by severity and subtype, monitoring over time and in response to interventions, and overall understanding of the underlying biology of this disorder. A variety of potential biomarkers, from the level of genes and proteins to network-level interactions, is currently being examined. Many of these biomarkers relate to inhibition, which is of particular interest because in many cases ASD is thought to be a disorder of imbalance between excitation and inhibition. Abnormalities in inhibition at the cellular level lead to emergent properties in networks of neurons. These properties take into account a more complete genetic and cellular background than findings at the level of individual genes or cells, and are able to be measured in live humans, offering additional potential as diagnostic biomarkers and predictors of behaviors. In this review we provide examples of how altered inhibition may inform the search for ASD biomarkers at multiple levels, from genes to cells to networks.
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21. Manouilenko I, Bejerot S. {{Sukhareva-Prior to Asperger and Kanner}}. {Nord J Psychiatry};2015 (Mar 31):1-4.
As early as 1926, the Kiev-based child psychiatrist Grunya Efimovna Sukhareva (capital GHE, Cyrillicsmall er, Cyrillicsmall u, Cyrillicsmall en, Cyrillicsmall ya, Cyrillic capital IE, Cyrillicsmall ef, Cyrillicsmall i, Cyrillicsmall em, Cyrillicsmall o, Cyrillicsmall ve, Cyrillicsmall en, Cyrillicsmall a, Cyrillic capital ES, Cyrillicsmall u, Cyrillicsmall ha, Cyrillicsmall a, Cyrillicsmall er, Cyrillicsmall ie, Cyrillicsmall ve, Cyrillicsmall a, Cyrillic) (1891-1981) published a detailed description of autistic traits in a number of children in a scientific German psychiatry and neurology journal. She initially used the term « schizoid (eccentric) psychopathy » but later replaced it with « autistic (pathological avoidant) psychopathy » to describe the clinical picture of autism. Her original article was available almost two decades before the case reports of Asperger and Kanner; nevertheless, Sukhareva’s pioneer work has been greatly overlooked. Here we present her description of autistic psychopathy in relation to the DSM-5 criteria of today.
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22. Mori K, Toda Y, Ito H, Mori T, Goji A, Hashimoto H, Tani H, Miyazaki M, Harada M, Kagami S. {{Neuroimaging in autism spectrum disorders: (1)H-MRS and NIRS study}}. {J Med Invest};2015;62(1-2):29-36.
Using proton magnetic resonance spectroscopy ((1)H-MRS), we measured chemical metabolites in the left amygdala and the bilateral orbito-frontal cortex (OFC) in children with autism spectrum disorders (ASD). The concentrations of N-acetylaspartate (NAA) in these regions of ASD were significantly decreased compared to those in the control group. In the autistic patients, the NAA concentrations in these regions correlated with their social quotient. These findings suggest the presence of neuronal dysfunction in the amygdala and OFC in ASD. Dysfunction in the amygdala and OFC may contribute to the pathogenesis of ASD. We performed a near-infrared spectroscopy (NIRS) study to evaluate the mirror neuron system in children with ASD. The concentrations of oxygenated hemoglobin (oxy-Hb) were measured with frontal probes using a 34-channel NIRS machine while the subjects imitated emotional facial expressions. The increments in the concentration of oxy-Hb in the pars opercularis of the inferior frontal gyrus in autistic subjects were significantly lower than those in the controls. However, the concentrations of oxy-Hb in this area were significantly elevated in autistic subjects after they were trained to imitate emotional facial expressions. The results suggest that mirror neurons could be activated by repeated imitation in children with ASD. J. Med. Invest. 62: 29-36, February, 2015.
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23. Pintaudi M, Calevo MG, Vignoli A, Baglietto MG, Hayek Y, Traverso M, Giacomini T, Giordano L, Renieri A, Russo S, Canevini M, Veneselli E. {{Antiepileptic drugs in Rett Syndrome}}. {Eur J Paediatr Neurol};2015 (Mar 5)
PURPOSE: We investigated drugs most often used to treat epilepsy in Rett Syndrome and their efficacy in a large cohort of Italian patients. METHODS: This is a multi-centre retrospective study. Data of 165 Rett subjects were collected from the patients’ files, and hospital charts. The efficacy of antiepileptic drugs (AEDs) was classified as follows: not effective; decrease in seizure frequency >/=50% for at least 6 months; seizure-free for at least 2 years. Phenotypic and genetic categorization of patients was performed and it was considered in AEDs efficacy evaluation. RESULTS: There were 130 epileptic patients.Sodium valproate (VPA) was the most commonly administered AED (44.3%) at seizure onset, followed by Carbamazepine (CBZ) (25.4%) and Phenobarbital (PB) (13%). Monotherapy was the first treatment option in most patients. VPA and CBZ proved to be equally effective in Rett patients who presented seizures within the typical age range (4-5 years), while Lamotrigine (LTG) was effective for patients in whom epilepsy started later. Overall, the frequency of side effects was low and the most often observed ones were restlessness and somnolence. CONCLUSION: Our study suggests that LTG, VPA and CBZ can be used as drugs of first choice in Rett Syndrome. The association of four drugs should be avoided since it did not result in any significant clinical improvement.
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24. Plavnick JB, Kaid T, MacFarland MC. {{Effects of a School-Based Social Skills Training Program for Adolescents with Autism Spectrum Disorder and Intellectual Disability}}. {J Autism Dev Disord};2015 (Mar 29)
Social deficits are a core characteristic of individuals with autism spectrum disorders and co-occurring intellectual disabilities (ASD-ID). Despite persistence of these deficits into adolescence, few social skills interventions have been empirically evaluated for older individuals with ASD-ID. The present investigation adapted an efficacious protocol for adolescents with ASD, video-based group instruction (VGI), and extended the procedure to 4 adolescents in a public high school setting. A multiple probe across behaviors design demonstrated the effectiveness of VGI for teaching novel social behavior to three of the four participants, with mixed outcomes for the fourth participant. Long-term maintenance was observed for two participants, though generalization outcomes were mixed. The results support using VGI within high school curricula for some adolescents with ASD-ID.
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25. Ptomey LT, Wittenbrook W. {{Position of the academy of nutrition and dietetics: nutrition services for individuals with intellectual and developmental disabilities and special health care needs}}. {J Acad Nutr Diet};2015 (Apr);115(4):593-608.
It is the position of the Academy of Nutrition and Dietetics that nutrition services provided by registered dietitian nutritionists (RDNs) and nutrition and dietetics technicians, registered (NDTRs), who work under RDN supervision, are essential components of comprehensive care for adults with intellectual and developmental disabilities (IDD) and children and youth with special health care needs (CYSHCN). Nutrition services should be provided throughout life in a manner that is interdisciplinary, family-centered, community based, and culturally competent. Individuals with IDD and CYSHCN have many risk factors requiring nutrition interventions, including growth alterations (eg, failure to thrive, obesity, or growth retardation), metabolic disorders, poor feeding skills, drug-nutrient interactions, and sometimes partial or total dependence on enteral or parenteral nutrition. Furthermore, these individuals are also more likely to develop comorbid conditions, such as obesity or endocrine disorders that require nutrition interventions. Poor nutrition-related health habits, limited access to services, and long-term use of multiple medications are considered health risk factors. Timely and cost-effective nutrition interventions can promote health maintenance and reduce risk and cost of comorbidities and complications. Public policy for individuals with IDD and CYSHCN has evolved, resulting in a transition from institutional facilities and programs to community and independent living. The expansion of public access to technology and health information on the Internet challenges RDNs and NDTRs to provide accurate scientific information to this rapidly growing and evolving population. RDNs and NDTRs with expertise in this area are best prepared to provide appropriate nutrition information to promote wellness and improve quality of life.
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26. Qin M, Huang T, Kader M, Krych L, Xia Z, Burlin T, Zeidler Z, Zhao T, Smith CB. {{R-baclofen reverses a social behavior deficit and elevated protein synthesis in a mouse model of fragile X syndrome}}. {Int J Neuropsychopharmacol};2015 (Mar 28)
BACKGROUND: Fragile X syndrome (FXS) is the most common known inherited form of intellectual disability and single genomic cause of autism spectrum disorders. It is caused by the absence of fragile X mental retardation gene (Fmr1) product, FMRP, an RNA-binding translation suppressor. Elevated rates of protein synthesis in brain and an imbalance between synaptic signaling via glutamate and gamma-aminobutyric acid (GABA) are both considered important in the pathogenesis of FXS. In a mouse model of FXS (Fmr1 KO), treatment with R-baclofen reversed some behavioral and biochemical phenotypes. A remaining crucial question is whether R-baclofen is also able to reverse increased brain protein synthesis rates. METHODS: To answer this question, we measured regional rates of cerebral protein synthesis in vivo with the L-[1-14C]leucine method in vehicle- and R-baclofen-treated WT and Fmr1 KO mice. We further probed signaling pathways involved in regulation of protein synthesis. RESULTS: Acute R-baclofen administration corrected elevated protein synthesis and reduced deficits on a test of social behavior in adult Fmr1 KO mice. It also suppressed activity of the mTOR pathway particularly in synaptosome-enriched fractions, but it had no effect on ERK1/2 activity. Ninety min after R-baclofen treatment, we observed an increase in mGluR5 expression in frontal cortex, a finding that may shed light on the tolerance observed in human studies with this drug. CONCLUSIONS: Our results suggest that treatment via activation of the GABAB system warrants further study in patients with FXS.
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27. Rausa VC, Moore DW, Anderson A. {{Use of video modelling to teach complex and meaningful job skills to an adult with autism spectrum disorder}}. {Dev Neurorehabil};2015 (Mar 31):1-8.
OBJECTIVE: To examine the effectiveness of a video modelling (VM) intervention to teach job-related telephone skills to an adult with Autism Spectrum Disorder (ASD). METHODS: A multiple baseline design across four telephone-relevant behaviours was used to assess the effects of the intervention on the participant’s ability to respond to telephone calls. RESULTS: Use of the VM intervention led to immediate improvements in listening and responding to both orders and complaints; more gradual improvements were also observed in the participant’s professional speech. All skill increases were maintained at follow-up. CONCLUSION: VM may be an effective method of teaching complex vocational skills to adults with ASD, although a stronger focus on social skills may be warranted in the future.
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28. Ring M, Gaigg SB, Bowler DM. {{Object-location memory in adults with autism spectrum disorder}}. {Autism Res};2015 (Mar 28)
This study tested implicit and explicit spatial relational memory in Autism Spectrum Disorder (ASD). Participants were asked to study pictures of rooms and pictures of daily objects for which locations were highlighted in the rooms. Participants were later tested for their memory of the object locations either by being asked to place objects back into their original locations or into new locations. Proportions of times when participants choose the previously studied locations for the objects irrespective of the instruction were used to derive indices of explicit and implicit memory [process-dissociation procedure, Jacoby, 1991, 1998]. In addition, participants performed object and location recognition and source memory tasks where they were asked about which locations belonged to the objects and which objects to the locations. The data revealed difficulty for ASD individuals in actively retrieving object locations (explicit memory) but not in subconsciously remembering them (implicit memory). These difficulties cannot be explained by difficulties in memory for objects or locations per se (i.e., the difficulty pertains to object-location relations). Together these observations lend further support to the idea that ASD is characterised by relatively circumscribed difficulties in relational rather than item-specific memory processes and show that these difficulties extend to the domain of spatial information. They also lend further support to the idea that memory difficulties in ASD can be reduced when support is provided at test. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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29. Zhao JH, Zhang LH, Shen GZ, Yuan AY, Yu R, Hou M. {{[Autistic spectrum disorders associated with chromosome Mar15q11.2: a case report]}}. {Zhongguo Dang Dai Er Ke Za Zhi};2015 (Mar);17(3):290-291.
