1. Abbott AE, Linke A, Nair A, Jahedi A, Alba LA, Keown CL, Fishman I, Muller RA. {{Repetitive behaviors in autism are linked to imbalance of corticostriatal connectivity:A functional connectivity MRI study}}. {Soc Cogn Affect Neurosci}. 2017.
The neural underpinnings of repetitive behaviors (RBs) in autism spectrum disorders (ASDs), ranging from cognitive to motor characteristics, remain unknown. We assessed RB symptomatology in 50 ASD and 52 typically developing (TD) children and adolescents (ages 8-17 years), examining intrinsic functional connectivity (iFC) of corticostriatal circuitry, which is important for reward-based learning and integration of emotional, cognitive, and motor processing, and considered impaired in ASDs. Connectivity analyses were performed for three functionally distinct striatal seeds (limbic, frontoparietal, motor). Functional connectivity with cortical regions of interest was assessed for corticostriatal circuit connectivity indices and ratios, testing the balance of connectivity between circuits. Results showed corticostriatal overconnectivity of limbic and frontoparietal seeds, but underconnectivity of motor seeds. Correlations with RBs were found for connectivity between the striatal motor seeds and cortical motor clusters from the whole-brain analysis, and for frontoparietal/limbic and motor/limbic connectivity ratios. Division of ASD participants into high (n=17) and low RB subgroups (n=19) showed reduced frontoparietal/limbic and motor/limbic circuit ratios for high RB compared to low RB and TD groups in the right hemisphere. Results suggest an association between RBs and an imbalance of corticostriatal iFC in ASD, being for limbic, but reduced for frontoparietal and motor circuits.
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2. Angell AM, Solomon O. {{Understanding parents’ concerns about their children with autism taking public school transportation in Los Angeles County}}. {Autism}. 2017: 1362361316680182.
There are a number of recent US news media reports of children and youth with autism becoming lost, injured, or even dying while taking public school transportation, yet research on this problem is scarce. This ethnographic study examines the experiences of 14 parents whose children with autism take public school transportation in Los Angeles County. We present two case studies of children with autism being « lost » while in transit from school to home on the bus to (1) describe how the situation was experienced, responded to, and managed by the parents; (2) consider three interrelated themes that emerged from interviews with 14 parents, related to children’s safety, independence, and participation, across multiple contexts and analytic levels; and (3) discuss the findings in relation to US news media reports of incidents involving children with autism on school buses to identify specific weaknesses in school transportation infrastructure, particularly in the context of privatization, that create conditions in which children with autism can « fall through the cracks » in potentially life-threatening ways. We argue that there is a critical need to address transportation accessibility for individuals on the autism spectrum to ensure their safety and support their independence and community participation.
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3. Baixauli-Fortea I, Miranda Casas A, Berenguer-Forner C, Colomer-Diago C, Rosello-Miranda B. {{Pragmatic competence of children with autism spectrum disorder. Impact of theory of mind, verbal working memory, ADHD symptoms, and structural language}}. {Appl Neuropsychol Child}. 2017: 1-12.
The primary aim of this study is to increase the existing knowledge about the pragmatic skills of children with autism spectrum disorders (ASD). Specifically, the study has two objectives. The first is to provide a profile of characteristics based on The Children’s Communication Checklist (CCC-2) pragmatics scales (inappropriate initiation, stereotyped language, use of context, nonverbal communication, and general pragmatics) and narrative task indicators. To this end, children with ASD will be compared to children with typical development (TD), controlling the effects of sex and structural language (speech, syntax, semantics, coherence). The second objective is to analyze whether theory of mind (ToM), verbal working memory, ADHD symptoms, and structural language can predict pragmatic competence in children with ASD without intellectual disability (ID). The results showed worse performance in the group with ASD on the majority of the pragmatic aspects evaluated. In addition, the application of ToM skills and structural language were significant predictors of the pragmatic skills of the children with ASD. These findings reinforce the importance of focusing intervention programs on mentalist abilities through experiences in real social scenarios, along with strengthening structural language components.
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4. Coley AA, Gao WJ. {{PSD95: A synaptic protein implicated in schizophrenia or autism?}}. {Prog Neuropsychopharmacol Biol Psychiatry}. 2017.
The molecular components of the postsynaptic density (PSD) in excitatory synapses of the brain are currently being investigated as one of the major etiologies of neurodevelopmental disorders such as schizophrenia (SCZ) and autism. Postsynaptic density protein-95 (PSD-95) is a major regulator of synaptic maturation by interacting, stabilizing and trafficking N-methyl-d-aspartic acid receptors (NMDARs) and alpha-amino-3-hydroxy-5-methyl-4-isox-azoleproprionic acid receptors (AMPARs) to the postsynaptic membrane. Recently, there has been overwhelming evidence that associates PSD-95 disruption with cognitive and learning deficits observed in SCZ and autism. For instance, recent genomic and sequencing studies of psychiatric patients highlight the aberrations at the PSD of glutamatergic synapses that include PSD-95 dysfunction. In animal studies, PSD-95 deficiency shows alterations in NMDA and AMPA-receptor composition and function in specific brain regions that may contribute to phenotypes observed in neuropsychiatric pathologies. In this review, we describe the role of PSD-95 as an essential scaffolding protein during synaptogenesis and neurodevelopment. More specifically, we discuss its interactions with NMDA receptor subunits that potentially affect glutamate transmission, and the formation of silent synapses during critical time points of neurodevelopment. Furthermore, we describe how PSD-95 may alter dendritic spine morphologies, thus regulating synaptic function that influences behavioral phenotypes in SCZ versus autism. Understanding the role of PSD-95 in the neuropathologies of SCZ and autism will give an insight of the cellular and molecular attributes in the disorders, thus providing treatment options in patients affected.
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5. Dickson KS, Suhrheinrich J, Rieth SR, Stahmer AC. {{Parent and Teacher Concordance of Child Outcomes for Youth with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2017.
Cross-informant ratings of are considered gold standard for child behavioral assessment. To date, little work has examined informant ratings of adaptive functioning for youth with autism spectrum disorder (ASD). In a large, diverse sample of youth with ASD, this study evaluated parent-teacher concordance of ratings of adaptive functioning and ASD-specific symptomatology across time. The impact of child clinical characteristics on concordance was also examined. Participants included 246 children, their caregivers and teachers. Parent-teacher concordance was variable but generally consistent across time. Concordance was significantly impacted by autism severity and child cognitive abilities. Findings inform the broader concordance literature and support the need to consider child clinical factors when assessing child functioning in samples of children with ASD.
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6. English MCW, Kitching ES, Maybery MT, Visser TAW. {{Modulating attentional biases of adults with autistic traits using transcranial direct current stimulation: A pilot study}}. {Autism Res}. 2017.
While neurotypical individuals over-attend to the left-side of centrally-presented visual stimuli, this bias is reduced in individuals with autism/high levels of autistic traits. Because this difference is hypothesized to reflect relative reductions in right-hemisphere activation, it follows that increasing right-hemisphere activation should increase leftward bias. We administered transcranial direct current stimulation (tDCS) over the right posterior parietal cortex to individuals with low levels (n = 19) and high levels (n = 19) of autistic traits whilst they completed a greyscales task. Anodal tDCS increased leftward bias for high-trait, but not low-trait, individuals, while cathodal tDCS had no effect. This outcome suggests that typical attentional patterns driven by hemispheric lateralization could potentially be restored following right-hemisphere stimulation in high-trait individuals. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Attentional differences between individuals with and without autism may reflect differences in underlying activation of the left and right hemispheres. In this study, we combine an attentional task that reflects relative hemispheric activation with non-invasive cortical stimulation, and show that attentional differences between healthy individuals with low and high levels of autistic-like traits can be reduced. This outcome is encouraging, and suggests that other aspects of attention in autism (e.g., face processing) may stand to benefit from similar stimulation techniques.
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7. Estes ML, McAllister AK. {{Brain, Immunity, Gut: « BIG » Links between Pregnancy and Autism}}. {Immunity}. 2017; 47(5): 816-9.
Although dysregulation of brain, immune, and gut physiology during pregnancy have each been implicated in neuropsychiatric disorders, whether and how these presumably distinct systems are linked to cause disease is unclear. Kim et al. (2017) and Shin Yim et al. (2017) identify a pathway to explain how these aspects of our physiology are deeply and inextricably connected.
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8. Factor RS, Swain DM, Scarpa A. {{Child Autism Spectrum Disorder Traits and Parenting Stress: The Utility of Using a Physiological Measure of Parental Stress}}. {J Autism Dev Disord}. 2017.
Caregivers of children with autism spectrum disorder (ASD) report greater stress due to unique parenting demands (e.g.; Estes et al. in Brain Dev 35(2):133-138, 2013). Stress is often studied through self-report and has not been extensively studied using physiological measures. This study compared parenting stress in mothers of children with and without ASD traits. Twenty-seven mother-child dyads participated in an interaction task while measuring mother’s heart rate variability (HRV) and mothers self-reported stress levels. Results demonstrated that while self-report and physiological stress measures were not correlated, ASD symptomology did account for HRV change score (i.e., more severe ASD symptoms were positively related to HRV change). This may reflect an atypical coping response. Implications for using physiological indicators for studying parenting stress are explored.
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9. Finnegan E, Accardo AL. {{Written Expression in Individuals with Autism Spectrum Disorder: A Meta-Analysis}}. {J Autism Dev Disord}. 2017.
Although studies exist measuring the effectiveness of writing interventions for students with autism spectrum disorder (ASD), research assessing the writing skills for this group is sparse. The present study identified differences in the written expression of individuals with ASD compared to typically developing (TD) peers, using variables selected from 13 different studies. Using Pearson Product Moment-correlation the relationship between the quality of research studies and the magnitude of the effect sizes was examined. Findings indicate significant differences in the following components of written expression; length, legibility, handwriting size, speed, spelling, and overall structure, highlighting the need for future research to determine if the characteristics of written expression in individuals with ASD are similar to other struggling writers.
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10. George R, Stokes MA. {{Sexual Orientation in Autism Spectrum Disorder}}. {Autism Res}. 2017.
Clinical impressions suggest a different sexual profile between individuals with and without Autism Spectrum Disorder (ASD). Little is presently known about the demographics of sexual orientation in ASD. Sexual Orientation was surveyed using the Sell Scale of Sexual Orientation in an international online sample of individuals with ASD (N = 309, M = 90, F= 219), aged (M = 32.30 years, SD = 11.93) and this was compared to sexual orientation of typically-developing individuals (N = 310, M = 84, F= 226), aged (M = 29.82 years, SD = 11.85). Findings suggested that sexual orientation was contingent on diagnosis (N = 570, chi(2)(9) =104.05, P < 0.001, phi = 0.43). In the group with ASD, 69.7% of the sample reported being non-heterosexual, while in the TD group, 30.3% reported being non-heterosexual. The group with ASD reported higher rates of homosexuality, bisexuality and asexuality, but lower rates of heterosexuality. The results support the impression that non-heterosexuality is more prevalent in the autistic population. Increased non-heterosexuality in ASD has important clinical implications to target unique concerns of this population, and suggests a need for specialized sex education programs for autistic populations for increased support and awareness. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Research suggests that individuals with Autism Spectrum Disorder (ASD) report increased homosexuality, bisexuality, and asexuality, but decreased heterosexuality. It is important to increase awareness about increased non-heterosexuality in ASD among autistic populations, medical professionals and care-takers, so as to provide specialized care, if needed and increase support and inclusion for non-heterosexual autistic individuals. Lien vers le texte intégral (Open Access ou abonnement)
11. Gilchrist KH, Hegarty-Craver M, Christian RB, Grego S, Kies AC, Wheeler AC. {{Automated Detection of Repetitive Motor Behaviors as an Outcome Measurement in Intellectual and Developmental Disabilities}}. {J Autism Dev Disord}. 2017.
Repetitive sensory motor behaviors are a direct target for clinical treatment and a potential treatment endpoint for individuals with intellectual or developmental disabilities. By removing the burden associated with video annotation or direct observation, automated detection of stereotypy would allow for longer term monitoring in ecologic settings. We report automated detection of common stereotypical motor movements using commercially available accelerometers affixed to the body and a generalizable detection algorithm. The method achieved a sensitivity of 80% for body rocking and 93% for hand flapping without individualized algorithm training or foreknowledge of subject’s specific movements. This approach is well-suited for implementation in a continuous monitoring system outside of a clinical setting.
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12. Gillespie-Smith K, Ballantyne C, Branigan HP, Turk DJ, Cunningham SJ. {{The I in autism: Severity and social functioning in autism are related to self-processing}}. {Br J Dev Psychol}. 2017.
It is well established that children with autism spectrum disorder (ASD) show impaired understanding of others and deficits within social functioning. However, it is still unknown whether self-processing is related to these impairments and to what extent self impacts social functioning and communication. Using an ownership paradigm, we show that children with ASD and chronological- and verbal-age-matched typically developing (TD) children do show the self-referential effect in memory. In addition, the self-bias was dependent on symptom severity and socio-communicative ability. Children with milder ASD symptoms were more likely to have a high self-bias, consistent with a low attention to others relative to self. In contrast, severe ASD symptoms were associated with reduced self-bias, consistent with an ‘absent-self’ hypothesis. These findings indicate that deficits in self-processing may be related to impairments in social cognition for those on the lower end of the autism spectrum. Statement of contribution What is already known on this subject? Impaired self-processing in autism is linked to social and cognitive deficits. There are discrepancies across the literature, with reports of both intact and impaired self-processing in autism. Ownership tasks are developmentally appropriate and have shown to induce self-memory bias in young children. What does this study add? Using an ownership task, children with autism showed a significant self-memory bias, greater than typical peers. Severity was negatively correlated with level of self-bias, potentially explaining the previous discrepancies. Severe autism symptoms are associated with an ‘absent self’, and mild autism symptoms reduce attention to others.
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13. Griswold AJ, Van Booven D, Cuccaro ML, Haines JL, Gilbert JR, Pericak-Vance MA. {{Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder}}. {Neurogenetics}. 2017.
Alterations of the gamma-aminobutyric acid (GABA) signaling system has been strongly linked to the pathophysiology of autism spectrum disorder (ASD). Genetic associations of common variants in GABA receptor subunits, in particular GABRA4 on chromosome 4p12, with ASD have been replicated by several studies. Moreover, molecular investigations have identified altered transcriptional and translational levels of this gene and protein in brains of ASD individuals. Since the genotyped common variants are likely not the functional variants contributing to the molecular consequences or underlying ASD phenotype, this study aims to examine rare sequence variants in GABRA4, including those outside the protein coding regions of the gene. We comprehensively re-sequenced the entire protein coding and noncoding portions of the gene and putative regulatory sequences in 82 ASD individuals and 55 developmentally typical pediatric controls, all homozygous for the most significant previously associated ASD risk allele (G/G at rs1912960). We identified only a single common, coding variant, and no association of any single marker or set of variants with ASD. Functional annotation of noncoding variants identified several rare variants in putative regulatory sites. Finally, a rare variant unique to ASD cases, in an evolutionary conserved site of the 3’UTR, shows a trend toward decreasing gene expression. Hence, GABRA4 rare variants in noncoding DNA may be variants of modest physiological effects in ASD etiology.
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14. Grohmann TDA. {{A Phenomenological Account of Sensorimotor Difficulties in Autism: Intentionality, Movement, and Proprioception}}. {Psychopathology}. 2017.
During the last decades, the focus in autism research has been progressively extended. Today it offers a large amount of material on sensorimotor disturbances as well as perceptive-cognitive preferences of people with autism. However, there are more and more critical voices against an intellectualist perspective in the cognitive sciences. The « enactive approach » as well as a new « movement perspective » to autism challenge the view of autism as a mere « cognitive » disturbance. They criticize the conception of a cognizing subject which is only interested in the world in as much as she/he can extract knowledge and organize it rationally. The present paper discusses fundamental insights from this critical sensorimotor perspective to autism from a phenomenological standpoint. Several important papers have already proven the fruitful combination of phenomenology with sensorimotor-focused research in the field of autism. However, these writings generally concentrate on problems of embodied intersubjectivity as an alternative approach to leading « theory of mind » paradigms. The present article reflects on the role and dimension of sensorimotor problems in themselves and not primarily in the intersubjective encounter. The notion of body intentionality will turn out to be a central heuristic device in order to understand the subject’s relationship to the world within a holistic framework, in which the person’s way to move, feel, and perceive are manners of understanding his/her own world. Empirical findings on difficulties in proactive and anticipatory control of movement as well as research outcome on proprioception and kinesthetic feedback will provide suitable material for discussing the transformation of body intentionality in autism. Phenomenology will provide the theoretical foundation in order to understand atypical movement patterns as alternative ways for producing alternative meanings.
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15. Hetzroni OE, Shalahevich K. {{Structure Mapping in Autism Spectrum Disorder: Levels of Information Processing and Relations to Executive Functions}}. {J Autism Dev Disord}. 2017.
Analogical reasoning was investigated among children with autism spectrum disorders (ASD) without intellectual disabilities and typical development (TD). Children were asked to select one of two targets in two conditions: (1) with and without spatial structure similarity; (2) with and without a perceptual distractor. Results demonstrate that children with ASD were able to select targets based on structural similarity, but this ability decreased to chance level when presented with a perceptual distractor. Everyday executive functions were positively correlated with structural selections among children with ASD. Results suggest that although children with ASD were able to select based on systematicity principle, perceptual distractor decreased their selection so that their cognitive system produced less structure similarities, that negatively affects spatial analogical reasoning.
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16. Hickey A, Crabtree J, Stott J. {{‘Suddenly the first fifty years of my life made sense’: Experiences of older people with autism}}. {Autism}. 2017: 1362361316680914.
Research on the experience of growing older with autism is very limited. In this study, 13 people with autism aged over 50 years participated in semi-structured interviews about their experiences of diagnosis, social support and getting older. Interviews were analysed using thematic analysis. Three overarching themes were generated: difference, life review and longing for connection. Prior to diagnosis, individuals had awareness of their difficulties, attributed these to intrinsic difference and engaged in a deliberate process of reducing the visibility of this difference. Diagnosis prompted a process of life review and externalisation, whereby past negative experiences were reattributed to autism as opposed to the self. Loneliness, isolation and yearning for interpersonal connection were ubiquitous and longstanding. Autism support and social groups were highly valued, offering opportunities for belonging, acceptance and social comparison. Results highlight the similarity to younger age groups in terms of lived experience and need for greater support, particularly with respect to reducing isolation and improving access to diagnosis.
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17. Higuchi Y, Motoki T, Ishida H, Kanamitsu K, Washio K, Oyama T, Noda T, Tsurumaru Y, Okada A, Tsukahara H, Shimada A. {{Sorafenib treatment for papillary thyroid carcinoma with diffuse lung metastases in a child with autism spectrum disorder: a case report}}. {BMC Cancer}. 2017; 17(1): 775.
BACKGROUND: Pediatric papillary thyroid carcinoma frequently presents with lymph node involvement and distant metastases. Sorafenib, an oral multikinase inhibitor, has been used to treat radioactive iodine (RAI) therapy-refractory thyroid carcinoma in adults; however, pediatric experience is limited. Medical procedures and hospitalization for children with autism spectrum disorder may be challenging. CASE PRESENTATION: An 11-year-old boy with autism spectrum disorder and moderate intellectual impairment presented with dyspnea on exertion with thyroid carcinoma and diffuses lung metastases. Total thyroidectomy and adjuvant RAI therapy is the standard treatment; however, the latter therapy was impractical because of his respiratory status and challenging behaviors. He was therefore started on sorafenib 200 mg/day (150 mg/m(2)/day) and this dosage was increased to 400 mg/day (300 mg/m(2)/day). The adverse effects were mild and tolerable. After administration of medication, his dyspnea improved and surgery was performed. We attempted to administer RAI therapy after surgery; however, we abandoned it because he had difficulty taking care of himself according to isolation room rules. Thyrotropin suppression therapy was therefore started and sorafenib treatment (400 mg/day) resumed. Follow-up imaging showed regression of pulmonary metastases. The metastases have remained stable for over 24 months on continuous sorafenib treatment without serious adverse events. CONCLUSION: We inevitably used sorafenib as an alternative to standard therapy because of the patient’s specific circumstances. Individualized strategies for pediatric cancer patients with autism spectrum disorder are needed.
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18. Ketcheson L, Hauck JL, Ulrich D. {{The levels of physical activity and motor skills in young children with and without autism spectrum disorder, aged 2-5 years}}. {Autism}. 2017: 1362361316683889.
Autism spectrum disorder is the fastest growing developmental disability in the United States. As such, there is an unprecedented need for research examining factors contributing to the health disparities in this population. This research suggests a relationship between the levels of physical activity and health outcomes. In fact, excessive sedentary behavior during early childhood is associated with a number of negative health outcomes. A total of 53 children participated in this study, including typically developing children (mean age = 42.5 +/- 10.78 months, n = 19) and children with autism spectrum disorder (mean age = 47.42 +/- 12.81 months, n = 34). The t-test results reveal that children with autism spectrum disorder spent significantly less time per day in sedentary behavior when compared to the typically developing group ( t(52) = 4.57, p < 0.001). Furthermore, the results from the general linear model reveal that there is no relationship between motor skills and the levels of physical activity. The ongoing need for objective measurement of physical activity in young children with autism spectrum disorder is of critical importance as it may shed light on an often overlooked need for early community-based interventions to increase physical activity early on in development. Lien vers le texte intégral (Open Access ou abonnement)
19. Koffer Miller KH, Mathew M, Nonnemacher SL, Shea LL. {{Program experiences of adults with autism, their families, and providers: Findings from a focus group study}}. {Autism}. 2017: 1362361316679000.
A growing number of individuals with autism spectrum disorder are aging into adulthood. In the United States, Medicaid is the primary payer for services for adults with autism spectrum disorder, yet there are few funded programs that provide dedicated supports to this population. This study examined the experiences of adults with autism spectrum disorder in two Medicaid-funded programs in Pennsylvania through focus groups. Researchers conducted 20 focus groups with a total of 36 adults with autism spectrum disorder, 32 family members, 32 direct care staff, and 20 program administrators. Using thematic analysis, we identified three themes: training needs, community engagement and socialization, and employment. There was a need for additional training to meet the varying needs of program participants including co-occurring diagnoses, sexuality, and long-term planning. Adults with autism spectrum disorder prioritized more individualized community activities based on their interests. Finally, barriers to and strategies for successful employment were discussed. It will be crucial for policy makers to utilize the findings to inform program improvement and development based on the experiences of individuals impacted by these services and systems directly. Additionally, researchers should use the findings from this study to design interventions for adults with autism spectrum disorder as it includes their voices.
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20. Kuhn J, Ford K, Dawalt LS. {{Brief Report: Mapping Systems of Support and Psychological Well-Being of Mothers of Adolescents with Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2017.
Parents of children with autism spectrum disorders are generally known to experience elevated levels of stress and poorer psychological well-being. To provide treatments and resources that most effectively support parent mental health, it is critical to understand how parents’ connections with various networks and systems impact their well-being. This study examined the relationship between the psychological well-being of mothers of adolescents with ASD (n = 20) and their systems of support from an ecological systems theoretical framework. Findings indicated that most connections across mothers’ ecosystems were strong in nature. However, the presence of strong connections was not significantly related to psychological well-being. In contrast, stressful/weak connections were significantly related to elevated levels of depressive symptoms, perceived stress, and sense of burden.
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21. Kuvalanka KA, Mahan DJ, McGuire JK, Hoffman TK. {{Perspectives of Mothers of Transgender and Gender-Nonconforming Children with Autism Spectrum Disorder}}. {J Homosex}. 2017.
This study represents findings from interviews at two time points with three mothers of transgender and gender-nonconforming (TGNC) children (ages eight to 12 years at T1) with autism spectrum disorder (ASD). Of interest was the mothers’ experiences of raising a TGNC child with ASD, and whether/how the children’s autism played a role in their understandings of their children’s gender identities and expressions. The mothers’ fear of a transphobic/cisnormative society and wondering about whether their children’s ASD influenced or caused their children’s gender variance were barriers to fully embracing their children’s gender nonconformity. Unclear causes of children’s social/emotional difficulties and lack of adequate resources and support were identified challenges. Positive interventions and resources were also discussed. Recommendations for clinicians and other professionals who serve TGNC youth with autism and their families are presented.
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22. Law GC, Neihart M, Dutt A. {{The use of behavior modeling training in a mobile app parent training program to improve functional communication of young children with autism spectrum disorder}}. {Autism}. 2017: 1362361316683887.
Communication intervention in early life can significantly impact long-term outcomes for young children with autism. Parents can be vital resources in the midst of the current manpower shortage. Map4speech is a new mobile application developed for parents of children with autism spectrum disorder. It is specially designed to provide high-quality, interactive learning, coupled with frequent feedback and live coaching to train parents in a naturalistic language intervention. A multiple-baseline single-case experimental design was conducted across three parent-child dyads. Results indicate that procedural integrity of parents’ intervention techniques was above 85% during post-training intervention, and their respective children showed increases in spontaneous word/gesture use. The results show that mobile applications with feedback can be a promising means for improving efficiency and effectiveness in disseminating evidence-based practices for autism intervention.
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23. Lindly O, Thorburn S, Heisler K, Reyes N, Zuckerman K. {{Parent disclosure of complementary health approaches used for children with autism spectrum disorder: Barriers and facilitators}}. {Complement Ther Med}. 2017; 35: 47-52.
BACKGROUND AND OBJECTIVES: Complementary health approaches (CHA) are widely used among children with autism spectrum disorder (ASD). As part of shared treatment decision-making, healthcare providers are encouraged to discuss CHA with parents of children with ASD. Yet prior research suggests that parents often do not disclose CHA used for children, and their reasons for nondisclosure are poorly understood. We, therefore, aimed to identify barriers and facilitators to parent disclosure of CHA used for children with ASD. DESIGN AND SETTING: In-depth interviews were conducted with 31 parents who reported that they were currently using CHA for their child’s ASD in Denver, Colorado or Portland, Oregon. RESULTS: We used content analysis to identify six main themes indicating that the following factors play a role in disclosure: parents’ drive to optimize their child’s health, parent self-efficacy discussing CHA with healthcare providers, parent beliefs about the effectiveness of CHA, parent-provider relationship quality, provider attitudes and knowledge regarding CHA and ASD, and visit characteristics. CONCLUSIONS: Study findings suggest that family and health system factors, together, influence parent disclosure of CHA used for children with ASD. Multifaceted intervention concurrently targeting the CHA-related knowledge, beliefs, and self-efficacy of parents whose children have been recently diagnosed with ASD, in addition to the CHA-related attitudes and knowledge of their healthcare providers may promote disclosure and shared treatment decision-making about the use of CHA.
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24. Lukito S, Jones CRG, Pickles A, Baird G, Happe F, Charman T, Simonoff E. {{Specificity of executive function and theory of mind performance in relation to attention-deficit/hyperactivity symptoms in autism spectrum disorders}}. {Mol Autism}. 2017; 8: 60.
Background: Individuals with autism spectrum disorder (ASD) frequently demonstrate symptoms of attention-deficit/hyperactivity disorder (ADHD). Previous findings in children with ASD have suggested that these symptoms are associated with an impairment in executive function (EF) abilities. However, studies rarely considered this association within a single framework that controls for other related factors such as Theory of Mind (ToM) abilities and ASD symptoms. Methods: We used structural equation modeling to explore the relations among EF, ToM, and symptoms of ASD and ADHD, using data from a population-based sample of 100 adolescents with ASD and full-scale IQ >/= 50 (the Special Needs and Autism Project (SNAP) cohort). The study used a multi-measure and multi-informant approach, where performance of inhibition, planning, switching, and working memory tasks indexed EF and performance on tasks involving mentalizing indexed ToM. Measures of ASD and ADHD symptoms included parent and teacher reports and direct observation of the children. Shared source of symptom reporting was accounted for with a parental rating latent factor indexed by symptom measures reported by parents. Results: Impairments in EF abilities were specifically associated with ADHD symptoms while impaired ToM was specifically associated with ASD symptoms, when accounting for the associations of each cognitive domain with the other factors. ASD and ADHD symptom latent factors were also correlated, but this association became nonsignificant once the shared source of reporting from parents was accounted for and within a model that also controlled for the correlated pathway between EF and ToM factors. The specific relations between the cognitive domains and behavioral symptoms remained even after controlling for IQ. Conclusions: In this ASD sample, symptoms of ADHD and ASD are underpinned by separate cognitive domains. The association between EF and ToM impairments is a likely partial explanation for the co-occurrence of ADHD symptoms in ASD, but the role of shared reporting effects is also important and supports the inclusion of independent informants and objective measures in future research.
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25. Lung FW, Chiang TL, Lin SJ, Lee MC, Shu BC. {{Assisted reproductive technology has no association with autism spectrum disorders: The Taiwan Birth Cohort Study}}. {Autism}. 2017: 1362361317690492.
The use of assisted reproduction technology has increased over the last two decades. Autism spectrum disorders and assisted reproduction technology share many risk factors. However, previous studies on the association between autism spectrum disorders and assisted reproduction technology have shown inconsistent results. The purpose of this study was to investigate the association between assisted reproduction technology and autism spectrum disorder diagnosis in a national birth cohort database. Furthermore, the results from the assisted reproduction technology and autism spectrum disorder propensity score matching exact matched datasets were compared. For this study, the 6- and 66-month Taiwan Birth Cohort Study datasets were used (N = 20,095). In all, 744 families were propensity score matching exact matched and selected as the assisted reproduction technology sample (ratio of assisted reproduction technology to controls: 1:2) and 415 families as the autism spectrum disorder sample (ratio of autism spectrum disorder to controls: 1:4). Using a national birth cohort dataset, controlling for the confounding factors of assisted reproduction technology conception and autism spectrum disorder diagnosis, both assisted reproduction technology and autism spectrum disorder propensity score matching matched datasets showed the same results of no association between assisted reproduction technology and autism spectrum disorder. Further study on the detailed information regarding the processes and methods of assisted reproduction technology may provide us with more information on the association between assisted reproduction technology and autism spectrum disorder.
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26. Mash LE, Schauder KB, Cochran C, Park S, Cascio CJ. {{Associations Between Interoceptive Cognition and Age in Autism Spectrum Disorder and Typical Development}}. {J Cogn Educ Psychol}. 2017; 16(1): 23-37.
Interoceptive awareness is linked to emotional and social cognition, which are impaired in individuals with autism spectrum disorder (ASD). It is unknown how this ability is associated with age in either typical or atypical development. We used a standard test of interoceptive accuracy (IA) to investigate these questions in children and adults with and without ASD. Perceived number of heartbeats over 4 time intervals was compared with actual heart rate to determine IA. Effects of group, age, IQ, heart rate, and mental counting ability on accuracy were assessed using multiple regression. Post hoc correlations were performed to clarify significant interactions. Age was unrelated to IA in both groups when IQ >/=115. When IQ <115, this relationship was positive in typical development and negative in ASD. These results suggest that cognitive ability moderates the effect of age on IA differently in autism and typical development. Lien vers le texte intégral (Open Access ou abonnement)
27. Mayes SD. {{Brief Report: Checklist for Autism Spectrum Disorder: Most Discriminating Items for Diagnosing Autism}}. {J Autism Dev Disord}. 2017.
The smallest subset of items from the 30-item Checklist for Autism Spectrum Disorder (CASD) that differentiated 607 referred children (3-17 years) with and without autism with 100% accuracy was identified. This 6-item subset (CASD-Short Form) was cross-validated on an independent sample of 397 referred children (1-18 years) with and without autism and on data from 1417 children in the CASD standardization sample and 1052 children in the CASD normative sample, resulting in 98.5, 97.6, and 99.8% diagnostic accuracy, respectively. Diagnostic agreement was high between the CASD-Short Form and the Autism Diagnostic Interview-Revised (96%), and the Child Autism Rating Scale (98%). Diagnostic accuracy for the CASD-SF was similar to accuracy for the 30-item CASD full form.
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28. Mertz L. {{Sharing Data to Solve the Autism Riddle: An Interview with Adriana Di Martino and Michael Milham of ABIDE}}. {IEEE Pulse}. 2017; 8(6): 6-9.
Worldwide, at least one in 100 people has autism spectrum disorder (ASD). In the United States, the Centers for Disease Control and Prevention put the number at one in 68 [1]. Despite this high rate of prevalence and the increased public awareness of autism in recent years, the underlying mechanisms of ASD still remain unclarified.
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29. Mossa A, Giona F, Pagano J, Sala C, Verpelli C. {{SHANK genes in autism: Defining therapeutic targets}}. {Prog Neuropsychopharmacol Biol Psychiatry}. 2017.
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30. Nieto C, Lopez B, Gandia H. {{Relationships between atypical sensory processing patterns, maladaptive behaviour and maternal stress in Spanish children with autism spectrum disorder}}. {J Intellect Disabil Res}. 2017; 61(12): 1140-50.
BACKGROUND: This study investigated sensory processing in a sample of Spanish children with autism spectrum disorder (ASD). Specifically, the study aimed to explore (1) the prevalence and distribution of atypical sensory processing patterns, (2) the relationship between adaptive and maladaptive behaviour with atypical sensory processing and (3) the possible relationship between sensory subtype and maternal stress. METHODS: The short sensory profile 2 (Dunn 2014) and the vineland adaptive behavior scale (Sparrow et al. 1984) were administered to examine the sensory processing difficulties and maladaptive behaviours of 45 children with ASD aged 3 to 14; their mothers also completed the parenting stress index-short form (Abidin 1995). RESULTS: Atypical sensory features were found in 86.7% of the children; avoider and sensor being the two most common patterns. No significant relationship was found between atypical sensory processing and adaptive behaviour. However, the analysis showed a strong relationship between sensory processing and maladaptive behaviour. Both maladaptive behaviour and sensory processing difficulties correlated significantly with maternal stress although maternal stress was predicted only by the sensory variable, and in particular by the avoider pattern. CONCLUSIONS: The findings suggest that sensory features in ASD may be driving the high prevalence of parental stress in carers. They also suggest that the effect on parental stress that has been attributed traditionally to maladaptive behaviours may be driven by sensory difficulties. The implications of these findings are discussed in relation to the development of interventions and the need to explore contextual and cultural variables as possible sources of variability.
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31. Orlando M. {{Double Voicing and Personhood in Collaborative Life Writing about Autism: the Transformative Narrative of Carly’s Voice}}. {J Med Humanit}. 2017.
Collaborative memoirs by co-writers with and without autism can enable the productive interaction of the voices of the writers in ways that can empower rather than exploit the disabled subject. Carly’s Voice, co-written by Arthur Fleischmann and his autistic daughter Carly, demonstrates the capacity for such life narratives to facilitate the relational interaction between writers in the negotiation of understandings of disability. Though the text begins by focusing on the limitations of life with autism, it develops into a collaboration which helps both writers move toward new ways of understanding disability and their own and one another’s life stories.
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32. Poquerusse J, Azhari A, Setoh P, Cainelli S, Ripoli C, Venuti P, Esposito G. {{Salivary alpha-amylase as a marker of stress reduction in individuals with intellectual disability and autism in response to occupational and music therapy}}. {J Intellect Disabil Res}. 2017.
BACKGROUND: Although the benefits of a range of disability-centric therapies have been well studied, little remains known about how they work, let alone how to monitor these benefits in a precise and reliable way. METHODS: Here, in two independent studies, we examine how sessions consisting of occupational or music therapy, both widely recognised for their effectiveness, modulate levels of salivary alpha-amylase (sAA), a now time- and cost-efficient marker of stress, in individuals with intellectual disability and autism spectrum disorder. Pre-session and post-session levels of sAA were compared in both groups in response to therapy and control sessions. RESULTS: In comparison to control sessions, occupational therapy significantly dampened rises in sAA levels while music therapy significantly decreased baseline sAA levels, highlighting the ability of both types of therapy to reduce stress and by proxy contribute to enhancing overall well-being. CONCLUSIONS: Not only do these results confirm the stress-reducing nature of two types of multisensory therapy, but they support the use of sAA as a potential tool for evaluating stress levels in individuals with intellectual disability and autism spectrum disorder, providing an important physiological lens that may guide strategies in clinical and non-clinical care for individuals with disabilities.
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33. Rachisan AL, Niculae AS, Tintea I, Pop B, Militaru M, Bizo A, Hrusca A. {{Association of fragile X syndrome, Robertsonian translocation (13, 22) and autism in a child}}. {Clujul Med}. 2017; 90(4): 445-8.
We describe the case of a 6-year-old boy with both fragile X syndrome and Robertsonian Translocation (45, XY, der (13; 22) (q10; q10)). This is the first reported case of a patient with fragile X syndrome with this Robertsonian translocation. Facial features and macroorchidism were consistent with fragile X syndrome. Cognitive impairment is more significant than in his sibling with fragile X syndrome, and the patient also has a prior diagnosis of autism spectrum disorder. We emphasize the challenges in his behavioral management and outline future directions for his management.
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34. Rahbar MH, Swingle HM, Christian MA, Hessabi M, Lee M, Pitcher MR, Campbell S, Mitchell A, Krone R, Loveland KA, Patterson DG, Jr. {{Environmental Exposure to Dioxins, Dibenzofurans, Bisphenol A, and Phthalates in Children with and without Autism Spectrum Disorder Living near the Gulf of Mexico}}. {Int J Environ Res Public Health}. 2017; 14(11).
Environmental exposure to organic endocrine disrupting chemicals, including dioxins, dibenzofurans, bisphenol A (BPA), and phthalates has been associated with neurodevelopmental disorders, including autism spectrum disorder (ASD). We conducted a pilot monitoring study of 30 ASD cases and 10 typically developing (TD) controls ages 2-8 years from communities along the Gulf of Mexico near Alabama, which houses 14 Superfund sites, to assess the concentrations of dioxins and dibenzofurans in serum, and BPA and phthalate ester metabolites in urine. Based on General Linear Models, the lipid- or creatinine-adjusted geometric mean concentrations of the aforementioned chemicals did not differ between the ASD case and TD control groups (all p >/= 0.27). We compared our findings to the adjusted means as reported by the National Health and Nutrition Examination Survey, survey years 2011-2012, and found that TD controls in our study had lower BPA (59%) and MEHHP (26%) concentrations, higher MBP (50%) concentration, and comparable (<20% difference) MEP, MBZP, MEOHP, and MCPP concentrations. We also conducted a preliminary investigation of dietary exposures and found that the consumption of certain types of fish may be associated with higher OCDD concentrations, and the consumption of soft drinks and juices may be associated with lower BPA and MEOHP concentrations, respectively. Lien vers le texte intégral (Open Access ou abonnement)
35. Rai-Bhogal R, Ahmad E, Li H, Crawford DA. {{Microarray analysis of gene expression in the cyclooxygenase (COX) knockout mice – a connection to Autism Spectrum Disorder}}. {Eur J Neurosci}. 2017.
The cellular and molecular events that take place during brain development play an important role in governing function of the mature brain. Lipid signalling molecules such as prostaglandin E2 (PGE2 ) play an important role in healthy brain development. Abnormalities along the COX/PGE2 signalling pathway due to genetic or environmental causes have been linked to Autism Spectrum Disorders (ASDs). This study aims to evaluate the effect of altered COX/PGE2 signalling on development and function of the prenatal brain using male mice lacking cyclooxygenase-1 and -2 (COX-1(-/-) and COX-2(-/-) ) as potential model systems of ASD. Microarray analysis was used to determine global changes in gene expression during embryonic days 16 (E16) and 19 (E19). Gene Ontology: Biological Process (GO:BP) and Kyoto Encyclopedia of Genes and Genomes (KEGG) were implemented to identify affected developmental genes and cellular processes. We found that in both knockouts the brain at E16 had nearly twice as many differentially expressed genes and affected biological pathways containing various ASD associated genes important in neuronal function. Interestingly, using GeneMANIA and Cytoscape we also show that the ASD-risk genes identified in both COX-1(-/-) and COX-2(-/-) models belong to protein-interaction networks important for brain development despite of different cellular localization of these enzymes. Lastly, we identified 8 genes that belong to the Wnt signalling pathways exclusively in the COX-2(-/-) mice at E16. The level of PKA-phosphorylated beta-catenin (S552), a major activator of the Wnt pathway, was increased in this model, suggesting cross-talk between the COX-2/PGE2 and Wnt pathways during early brain development. Overall, these results provide further molecular insight into the contribution of the COX/PGE2 pathways to ASD and demonstrate that COX-1(-/-) and COX-2(-/-) animals might be suitable new model systems for studying the disorders. This article is protected by copyright. All rights reserved.
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36. Romero-Gonzalez M, Chandler S, Simonoff E. {{The relationship of parental expressed emotion to co-occurring psychopathology in individuals with autism spectrum disorder: A systematic review}}. {Res Dev Disabil}. 2017; 72: 152-65.
Expressed emotion is a construct of the affective relationship between two people, with domains measuring criticism, hostility, warmth, relationship and emotional over-involvement. This review focuses on studies of Expressed Emotion in families of individuals with autism spectrum disorder and its association with co-occurring psychiatric disorders. A systematic search used the Psych-Info and Medline databases to identify articles available at or before September 2016. Eleven studies met the inclusion criteria. The included studies suggest that high levels of expressed emotion, including criticism, are associated with behavioural problems. However, the relationship between expressed emotion and emotional problems is presently unclear because findings were mixed. Also, there is presently little evidence regarding the impact of other components of expressed emotion on co-occurring disorders.
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37. Rubenstein E, Schieve L, Bradley C, DiGuiseppi C, Moody E, Thomas K, Daniels J. {{The prevalence of gluten free diet use among preschool children with autism spectrum disorder}}. {Autism Res}. 2017.
Our objective was to estimate prevalence of current or ever use of a gluten free diet (GFD) in children aged 30-68 months with autism spectrum disorder (ASD) and population controls (POP); and to identify characteristics associated with ever having used GFD among children with ASD. We used data from the Study to Explore Early Development (SEED), a multi-site, case-control study of children with ASD. Caregivers reported GFD use by their children through structured questionnaires about diet patterns, gastrointestinal (GI) issues, and ASD-specific treatments. Prevalence was estimated and compared using log-Poisson regression, adjusting for confounders. In children with ASD, we examined whether child or mother’s GI conditions or child’s phenotypic traits were associated with ever trying a GFD. In SEED, 71 children with ASD (11.1% prevalence after adjustment) were on a GFD at time of the study and 130 (20.4%) had ever used a GFD, a greater percentage than in POP children (N = 11, 0.9% current use). Of current users with ASD, 50.7% had a dietary intervention that was prescribed by a medical professional. Among children with ASD, child GI conditions and developmental regression were positively and independently associated with having ever used a GFD. Current use and ever use of a GFD were prevalent in children with ASD identified in SEED. GFD usage was associated with GI issues and child phenotype. Clinicians may consider advising parents on how best to use these diets in the context of the child’s GI presentation and current scientific knowledge about effectiveness in relation to ASD symptoms. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Gluten free diets (GFDs) are commonly used as an alternative therapy for autism spectrum disorder (ASD); however, the effectiveness is still uncertain which makes it important to know who tries this type of diet. We found that one in five preschool aged children with ASD had ever used a GFD. Children with gastrointestinal conditions and developmental regression were more likely to have tried a GFD.
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38. Sturman N, Deckx L, van Driel ML. {{Methylphenidate for children and adolescents with autism spectrum disorder}}. {Cochrane Database Syst Rev}. 2017; 11: CD011144.
BACKGROUND: Children with autistic spectrum disorder (ASD) frequently present with inattention, impulsivity and hyperactivity, which are the cardinal symptoms of attention deficit hyperactivity disorder (ADHD). The effectiveness of methylphenidate, a commonly used ADHD treatment, is therefore of interest in these children. OBJECTIVES: To assess the effects of methylphenidate for symptoms of ADHD (inattention, impulsivity and hyperactivity) and ASD (impairments in social interaction and communication, and repetitive, restricted or stereotypical behaviours) in children and adolescents aged 6 to 18 years with ASD. SEARCH METHODS: In November 2016, we searched CENTRAL, MEDLINE, Embase, PsycINFO, CINAHL, 11 other databases and two trials registers. We also checked reference lists and contacted study authors and pharmaceutical companies. SELECTION CRITERIA: Randomised controlled trials (RCTs) that investigated the effect of methylphenidate versus placebo on the core symptoms of ASD or ADHD-like symptoms, or both, in children aged 6 to 18 years who were diagnosed with ASD or pervasive developmental disorder. The primary outcome was clinical efficacy, defined as an improvement in ADHD-like symptoms (inattention, impulsivity and hyperactivity) and in the core symptoms of ASD (impaired social interaction, impaired communication, and stereotypical behaviours), and overall ASD. Secondary outcomes examined were: rate of adverse events; caregiver well-being; need for institutionalisation, special schooling or therapy to achieve learning outcomes; and overall quality of life. DATA COLLECTION AND ANALYSIS: We used standard Cochrane methodological procedures. We combined outcome measures that used different psychometric scales, where clinically appropriate. We used a coefficient of 0.6 to calculate standard deviations and adjust for the studies’ cross-over design. We considered a standardised mean difference (SMD) of 0.52 as the minimum clinically relevant inter-treatment difference. We applied the GRADE rating for strength of evidence for each outcome. MAIN RESULTS: The studies: we included four cross-over studies, with a total of 113 children aged 5 to 13 years, most of whom (83%) were boys. We included two studies with five-year-old children since we were unable to obtain the disaggregated data for those aged six years and above, and all other participants were in our target age range. All participants resided in the USA. The duration of treatment in the cross-over phase was one week for each dose of methylphenidate. Studies used a range of outcome scales, rated by parents, teachers or both; clinicians; or programme staff. We report parent-rated outcomes separately. Risk of bias: we considered three trials to be at high risk of bias due to selective reporting and all trials to be at unclear risk of bias for blinding of participants and assessors, due to the potential for recognising the side effects of methylphenidate. We judged all trials to be at low or unclear risk of bias for other items. Primary outcomes: the meta-analysis suggested that high-dose methylphenidate (0.43 mg/kg/dose to 0.60 mg/kg/dose) had a significant and clinically relevant benefit on hyperactivity, as rated by teachers (SMD -0.78, 95% confidence interval (CI) -1.13 to -0.43; 4 studies, 73 participants; P < 0.001; low-quality evidence) and parents (mean difference (MD) -6.61 points, 95% CI -12.19 to -1.03, rated on the hyperactivity subscale of the Aberrant Behviour Checklist, range 0 to 48; 2 studies, 71 participants; P = 0.02; low-quality evidence). Meta-analysis also showed a significant but not clinically relevant benefit on teacher-rated inattention (MD -2.72 points, 95% CI -5.37 to -0.06, rated on the inattention subscale of the Swanson, Nolan and Pelham, Fourth Version questionnaire, range 0 to 27; 2 studies, 51 participants; P = 0.04; low-quality evidence). There were inadequate data to conduct a meta-analysis on the symptom of impulsivity. There was no evidence that methylphenidate worsens the core symptoms of ASD or benefits social interaction (SMD -0.51, 95% CI -1.07 to 0.05; 3 studies, 63 participants; P = 0.07; very low-quality evidence), stereotypical behaviours (SMD -0.34, 95% CI -0.84 to 0.17; 3 studies, 69 participants; P = 0.19; low-quality evidence), or overall ASD (SMD -0.53, 95% CI -1.26 to 0.19; 2 studies, 36 participants; P = 0.15; low-quality evidence), as rated by teachers. There were inadequate data to conduct a meta-analysis on the symptom of impaired communication. SECONDARY OUTCOMES: no data were available for the secondary outcomes of caregiver well-being; need for institutionalisation, special schooling options or therapy to achieve learning outcomes; or overall quality of life. No trials reported serious adverse events. The only adverse effect that was significantly more likely with treatment was reduced appetite as rated by parents (risk ratio 8.28, 95% CI 2.57 to 26.73; 2 studies, 74 participants; P < 0.001; very low-quality evidence). Subgroup analysis by dose did not identify any significant differences in effect on our primary outcomes between low-, medium- or high-dose ranges. AUTHORS' CONCLUSIONS: We found that short-term use of methylphenidate might improve symptoms of hyperactivity and possibly inattention in children with ASD who are tolerant of the medication, although the low quality of evidence means that we cannot be certain of the true magnitude of any effect. There was no evidence that methylphenidate has a negative impact on the core symptoms of ASD, or that it improves social interaction, stereotypical behaviours, or overall ASD. The evidence for adverse events is of very low quality because trials were short and excluded children intolerant of methylphenidate in the test-dose phase. Future RCTs should consider extending the duration of treatment and follow-up. The minimum clinically important difference also needs to be confirmed in children with ASD using outcome scales validated for this population. Lien vers le texte intégral (Open Access ou abonnement)
39. T WV, A RM, J AK, A CB, E SM. {{A Randomized Controlled Trial of the Social Tools And Rules for Teens (START) Program: An Immersive Socialization Intervention for Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2017.
Adolescents with ASD face numerous personal and contextual barriers that impede the development of social motivation and core competencies, warranting the need for targeted intervention. A randomized controlled trial was conducted with 40 adolescents to evaluate the merits of a multi-component socialization intervention that places emphasis on experiential learning. This investigation evaluated the impact of the 20-week START program on the social functioning of adolescents with ASD. Significant Group x Time differences between START and waitlist control groups were found across multiple measures. Secondary analyses of the entire program cohort also yielded significant improvement trends across all measures. These findings may be an important step in identifying optimal strategies to target the complex factors limiting optimal social development in ASD.
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40. Taheri A, Perry A, Minnes P. {{Exploring factors that impact activity participation of children and adolescents with severe developmental disabilities}}. {J Intellect Disabil Res}. 2017; 61(12): 1151-61.
BACKGROUND: Despite the benefits of social participation, children and adolescents with developmental disabilities (DD) are often excluded from taking part in social activities. There is a gap in the literature about the factors that contribute to adequate participation of children with severe DD in particular and the barriers to their participation. Taking an ecological perspective, the purpose of this study was to examine child, family and community variables that may impact the activity participation of children and adolescents with severe DD. METHODS: A total of 197 parents of children with severe DD (4-19 years) completed a survey, addressing a wide range of child, family and community related variables, as well as a measure of activity participation. RESULTS: Overall, the final model significantly accounted for 30% of the variance in activity participation. Higher adaptive behaviour, greater parental socialisation and placement in an integrated school programme were significant predictors of greater activity participation. CONCLUSION: Child, family and community factors were all important in understanding the activity participation of children with severe DD, thus supporting the value of an ecological approach. Suggestions for future research and clinical implications are discussed.
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41. Tanaka AJ, Cho MT, Willaert R, Retterer K, Zarate YA, Bosanko K, Stefans V, Oishi K, Williamson A, Wilson GN, Basinger A, Barbaro-Dieber T, Ortega L, Sorrentino S, Gabriel MK, Anderson IJ, Sacoto MJG, Schnur RE, Chung WK. {{De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism}}. {Cold Spring Harb Mol Case Stud}. 2017; 3(6).
Using whole-exome sequencing, we identified seven unrelated individuals with global developmental delay, hypotonia, dysmorphic facial features, and an increased frequency of short stature, ataxia, and autism with de novo heterozygous frameshift, nonsense, splice, and missense variants in the Early B-cell Transcription Factor Family Member 3 (EBF3) gene. EBF3 is a member of the collier/olfactory-1/early B-cell factor (COE) family of proteins, which are required for central nervous system (CNS) development. COE proteins are highly evolutionarily conserved and regulate neuronal specification, migration, axon guidance, and dendritogenesis during development and are essential for maintaining neuronal identity in adult neurons. Haploinsufficiency of EBF3 may affect brain development and function, resulting in developmental delay, intellectual disability, and behavioral differences observed in individuals with a deleterious variant in EBF3.
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42. Turcotte P, Shea LL, Mandell D. {{School Discipline, Hospitalization, and Police Contact Overlap Among Individuals with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2017.
The objective was to examine the frequency, correlates, and overlap of school disciplinary actions, psychiatric hospitalizations, and police contact among children and adolescents with autism. Survey results from 2525 caregivers of individuals with autism in elementary through high school were examined. Logistic regression was used to examine predictors of each outcome. Youth with autism most frequently experienced school disciplinary action (15.0%), followed by police contact (7.9%) and hospitalization (7.8%). Experiencing any one of the three events increased risk of experiencing either of the other events. Strong associations between traumatic experiences such as police contact and hospitalizations (OR 9.2), need to be explored to determine risk factors for potential intervention. Further research is needed to determine the temporal ordering of these outcomes.
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43. Vasa RA, Keefer A, Reaven J, South M, White SW. {{Priorities for Advancing Research on Youth with Autism Spectrum Disorder and Co-occurring Anxiety}}. {J Autism Dev Disord}. 2017.
Research on anxiety disorders in youth with autism spectrum disorder (ASD) has burgeoned in the past two decades. Yet, critical gaps exist with respect to measuring and treating anxiety in this population. This study used the nominal group technique to identify the most important research priorities on co-occurring anxiety in ASD. An international group of researchers and clinicians with experience in ASD and anxiety participated in the process. Topics ranked as most important focused on understanding how ASD symptoms affect treatment response, implementing treatments in real world settings, developing methods to disentangle overlapping symptoms between anxiety and ASD, and developing objective measures to assess anxiety. Collectively, these priorities can lead to collaborative studies to accelerate research in the field.
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44. Williams DM, Nicholson T, Grainger C. {{The Self-Reference Effect on Perception: Undiminished in Adults with Autism and No Relation to Autism Traits}}. {Autism Res}. 2017.
Memory for (and perception of) information about the self is superior to memory for (and perception of) other kinds of information. This self-reference effect (SRE) in memory appears diminished in ASD and related to the number of ASD traits manifested by neurotypical individuals (fewer traits = larger SRE). Here, we report the first experiments exploring the relation between ASD and the SRE in perception. Using a « Shapes » Task (Sui et al., Journal of Experimental Psychology: Human Perception and Performance, 38, 1105, 2012), participants learned to associate three different shapes (triangle, circle, square) with three different labels representing self, a familiar other, or an unfamiliar other (e.g., « you », « mother », « stranger »). Participants then completed trials during which they were presented with one shape and one label for 100 ms, and made judgments about whether the shape and label was a match. In Experiment 1, neurotypical participants (n = 124) showed the expected SRE, detecting self-related matches more reliably and quickly than matches involving familiar or unfamiliar other. Most important, number of ASD traits was unrelated to the size of the SRE for either accuracy or RT. Bayesian association analyses strongly supported the null hypothesis. In Experiment 2, there were no differences between 22 adults with ASD and 21 matched comparison adults in performance on the Shapes Task. Despite showing large and significant theory of mind impairments, participants with ASD showed the typical SRE and there were no associations with ASD traits in either group. In every case, Bayesian analyses favored the null hypothesis. These findings challenge theories about self-representation in ASD, as discussed in the article. Autism Res 2017. (c) 2017 The Authors Autism Research published by International Society for Autism Research and Wiley Periodicals, Inc. LAY SUMMARY: Neurotypical people tend to find it easier to perceive and remember information that relates to themselves than information that relates to others. Research suggests that people with ASD show a diminished (or absent) self-bias in memory and that severity of ASD predicts the extent of this diminution (more severe ASD = smaller self-bias in memory). However, the current research suggests strongly that people with ASD do show a self-bias in their perception. This research informs our understanding of psychological functioning in ASD and challenges theories regarding self-awareness in this disorder.
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45. Woodbury-Smith M, Deneault E, Yuen RKC, Walker S, Zarrei M, Pellecchia G, Howe JL, Hoang N, Uddin M, Marshall CR, Chrysler C, Thompson A, Szatmari P, Scherer SW. {{Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly}}. {Mol Autism}. 2017; 8: 59.
Background: Autism spectrum disorder (ASD), a developmental disorder of early childhood onset, affects males four times more frequently than females, suggesting a role for the sex chromosomes. In this study, we describe a family with ASD in which a predicted pathogenic nonsense mutation in the X-chromosome gene RAB39B segregates with ASD phenotype. Methods: Clinical phenotyping, microarray, and whole genome sequencing (WGS) were performed on the five members of this family. Maternal and female sibling X inactivation ratio was calculated, and phase was investigated. Mutant-induced pluripotent stem cells engineered for an exon 2 nonsense mutation were generated and differentiated into cortical neurons for expression and pathway analyses. Results: Two males with an inherited RAB39B mutation both presented with macrocephaly, intellectual disability (ID), and ASD. Their female sibling with the same mutation presented with ID and a broad autism phenotype. In contrast, their transmitting mother has no neurodevelopmental diagnosis. Our investigation of phase indicated maternal preferential inactivation of the mutated allele, with no such bias observed in the female sibling. We offer the explanation that this bias in X inactivation may explain the absence of a neurocognitive phenotype in the mother. Our cellular knockout model of RAB39B revealed an impact on expression in differentiated neurons for several genes implicated in brain development and function, supported by our pathway enrichment analysis. Conclusions: Penetrance for ASD is high among males but more variable among females with RAB39B mutations. A critical role for this gene in brain development and function is demonstrated.
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46. Zhang Y, Liu Y, Zarrei M, Tong W, Dong R, Wang Y, Zhang H, Yang X, MacDonald JR, Uddin M, Scherer SW, Gai Z. {{Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta-analysis}}. {Am J Med Genet B Neuropsychiatr Genet}. 2017.
IMMP2L, the gene encoding the inner mitochondrial membrane peptidase subunit 2-like protein, has been reported as a candidate gene for Tourette syndrome, autism spectrum disorder (ASD) and additional neurodevelopmental disorders. Here we genotyped 100 trio families with an index proband with autism spectrum disorder in Han Chinese population and found three cases with rare exonic IMMP2L deletions. We have conducted a comprehensive meta-analysis to quantify the association of IMMP2L deletions with ASD using 5,568 cases and 10,279 controls. While the IMMP2L deletions carried non-recurrent breakpoints, in contrast to previous reports, our meta-analysis found no evidence of association (P > 0.05) between IMMP2L deletions and ASD. We also observed common exonic deletions impacting IMMP2L in a separate control (5,971 samples) cohort where subjects were screened for psychiatric conditions. This is the first systematic review and meta-analysis regarding the effect of IMMP2L deletions on ASD, but further investigations in different populations, especially Chinese population may be still needed to confirm our results.
