1. Brennan L, Fein D, Como A, Rathwell IC, Chen CM. {{Use of the Modified Checklist for Autism, Revised with Follow Up-Albanian to Screen for ASD in Albania}}. {J Autism Dev Disord};2016 (Aug 4)
The Modified Checklist for Autism in Toddlers Revised-Albanian screener (M-CHAT-R-A) was used to screen 2594 toddlers, aged 16-30 months, at well-child visits. Two hundred fifty-three (9.75 %) screened positive; follow up on failed items were conducted by phone with 127 (50 %); the remainder were lost to follow-up. Twenty-six toddlers (21 %) continued to screen positive; 19 received full evaluations, which assessed for ASD with the Autism Diagnostic Observation Schedule and developmental delays with the Parents Assessment of Developmental Status-Developmental Milestones. All evaluated children had significant delays; 17 of the 19 met criteria for Autism/ASD. Removal of three items improved performance. Although Albania and the US are quite different in culture and language, key features of ASD appeared very similar.
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2. Downs J, Leonard H. {{Quantitative and qualitative insights into the experiences of children with Rett syndrome and their families}}. {Wien Med Wochenschr};2016 (Aug 4)
Rett syndrome is a rare neurodevelopmental disorder caused by a mutation in the MECP2 gene. It is associated with severe functional impairments and medical comorbidities such as scoliosis and poor growth. The population-based and longitudinal Australian Rett Syndrome Database was established in 1993 and has supported investigations of the natural history of Rett syndrome and effectiveness of treatments, as well as a suite of qualitative studies to identify deeper meanings. This paper describes the early presentation of Rett syndrome, including regression and challenges for families seeking a diagnosis. We discuss the importance of implementing strategies to enhance daily communication and movement, describe difficulties interpreting the presence of pain and discomfort, and argue for a stronger evidence base in relation to management. Finally, we outline a framework for understanding quality of life in Rett syndrome and suggest areas of life to which we can direct efforts in order to improve quality of life. Each of these descriptions is illustrated with vignettes of child and family experiences. Clinicians and researchers must continue to build this framework of knowledge and understanding with efforts committed to providing more effective treatments and supporting the best quality of life for those affected.
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3. Ekhlaspour L, Baskaran C, Campoverde KJ, Sokoloff NC, Neumeyer AM, Misra M. {{Bone Density in Adolescents and Young Adults with Autism Spectrum Disorders}}. {J Autism Dev Disord};2016 (Aug 4)
Patients with autism spectrum disorder (ASD) are at increased risk for fracture, and peri-pubertal boys with ASD have lower bone mineral density (BMD) than controls. Data are lacking regarding BMD in older adolescents with ASD. We compared BMD using dual-energy X-ray absorptiometry in 9 adolescents/young adults with ASD against 9 typically developing matched controls. Patients with ASD and controls were excluded if they had other underlying conditions that may affect bone. Compared to controls, patients with ASD had (i) lower femoral neck and hip BMD Z-scores, and (ii) lower spine, femoral neck and hip height adjusted BMD Z-scores even after controlling for BMI. Understanding the underlying pathophysiology will be key to developing therapies to improve BMD and reduce fracture risk.
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4. Gong T, Dalman C, Wicks S, Dal H, Magnusson C, Lundholm C, Almqvist C, Pershagen G. {{Perinatal Exposure to Traffic-Related Air Pollution and Autism Spectrum Disorders}}. {Environ Health Perspect};2016 (Aug 5)
BACKGROUND: Studies from the United States indicate that exposure to air pollution in early life is associated with autism spectrum disorders (ASD) in children, but the evidence is not consistent with European data. METHOD: Children born and residing in Stockholm during 1993-2007 with an ASD diagnosis were identified through multiple health registers and classified as cases (n=5,136). A randomly selected sample of 18,237 children from the same study base constituted controls. Levels of nitrogen oxides (NOx) and particulate matter with diameters <10microm (PM10) from road traffic were estimated at residential addresses during mother's pregnancy and the child's first year of life by dispersion models. Odds ratios (OR) and 95% confidence intervals (CI) for ASD with or without intellectual disability (ID) were estimated using logistic regression models after conditioning on municipality and calendar year of birth as well as adjustment for potential confounders. RESULT: Air pollution exposure during the prenatal period was not associated with ASD overall (OR 1.00, 95% CI 0.86-1.15 per 10 microg/m3 increase in PM10 and OR 1.02, 95% CI 0.94-1.10 per 20 microg/m3 increase in NOx during mother's pregnancy). Similar results were seen for exposure during the first year of life, and for ASD in combination with ID. An inverse association between air pollution exposure and ASD risk was observed among children of mothers who moved to a new residence during pregnancy. CONCLUSION: Early life exposure to low levels of NOx and PM10 from road traffic does not appear to increase the risk of ASD. Lien vers le texte intégral (Open Access ou abonnement)
5. Harder R, Malow BA, Goodpaster RL, Iqbal F, Halbower A, Goldman SE, Fawkes DB, Wang L, Shi Y, Baudenbacher F, Diedrich A. {{Heart rate variability during sleep in children with autism spectrum disorder}}. {Clin Auton Res};2016 (Aug 4)
PURPOSE: Autonomic dysfunction has been reported in autism spectrum disorders (ASD). Less is known about autonomic function during sleep in ASD. The objective of this study is to provide insight into the autonomic cardiovascular control during different sleep stages in ASD. We hypothesized that patients with ASD have lower vagal and higher sympathetic modulation with elevated heart rate, as compared to typical developing children (TD). METHODS: We studied 21 children with ASD and 23 TD children during overnight polysomnography. Heart rate and spectral parameters were calculated for each vigilance stage during sleep. Data from the first four sleep cycles were used to avoid possible effects of different individual sleep lengths and sleep cycle structures. Linear regression models were applied to study the effects of age and diagnosis (ASD and TD). RESULTS: In both groups, HR decreased during non-REM sleep and increased during REM sleep. However, HR was significantly higher in stages N2, N3 and REM sleep in the ASD group. Children with ASD showed less high frequency (HF) modulation during N3 and REM sleep. LF/HF ratio was higher during REM. Heart rate decreases with age at the same level in ASD and in TD. We found an age effect in LF in REM different in ASD and TD. CONCLUSION: Our findings suggest possible deficits in vagal influence to the heart during sleep, especially during REM sleep. Children with ASD may have higher sympathetic dominance during sleep but rather due to decreased vagal influence.
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6. Hoogenhout M, Malcolm-Smith S. {{Theory of mind predicts severity level in autism}}. {Autism};2016 (Aug 3)
We investigated whether theory of mind skills can indicate autism spectrum disorder severity. In all, 62 children with autism spectrum disorder completed a developmentally sensitive theory of mind battery. We used intelligence quotient, Diagnostic and Statistical Manual of Mental Disorders (4th ed.) diagnosis and level of support needed as indicators of severity level. Using hierarchical cluster analysis, we found three distinct clusters of theory of mind ability: early-developing theory of mind (Cluster 1), false-belief reasoning (Cluster 2) and sophisticated theory of mind understanding (Cluster 3). The clusters corresponded to severe, moderate and mild autism spectrum disorder. As an indicator of level of support needed, cluster grouping predicted the type of school children attended. All Cluster 1 children attended autism-specific schools; Cluster 2 was divided between autism-specific and special needs schools and nearly all Cluster 3 children attended general special needs and mainstream schools. Assessing theory of mind skills can reliably discriminate severity levels within autism spectrum disorder.
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7. Jaramillo TC, Speed HE, Xuan Z, Reimers JM, Escamilla CO, Weaver TP, Liu S, Filonova I, Powell CM. {{Novel Shank3 mutant exhibits behaviors with face validity for autism and altered striatal and hippocampal function}}. {Autism Res};2016 (Aug 5)
Mutations/deletions in the SHANK3 gene are associated with autism spectrum disorders and intellectual disability. Here, we present electrophysiological and behavioral consequences in novel heterozygous and homozygous mice with a transcriptional stop cassette inserted upstream of the PDZ domain-coding exons in Shank3 (Shank3E13 ). Insertion of a transcriptional stop cassette prior to exon 13 leads to loss of the two higher molecular weight isoforms of Shank3. Behaviorally, both Shank3E13 heterozygous (HET) and homozygous knockout (KO) mice display increased repetitive grooming, deficits in social interaction tasks, and decreased rearing. Shank3E13 KO mice also display deficits in spatial memory in the Morris water maze task. Baseline hippocampal synaptic transmission and short-term plasticity are preserved in Shank3E13 HET and KO mice, while both HET and KO mice exhibit impaired hippocampal long-term plasticity. Additionally, Shank3E13 HET and KO mice display impaired striatal glutamatergic synaptic transmission. These results demonstrate for the first time in this novel Shank3 mutant that both homozygous and heterozygous mutation of Shank3 lead to behavioral abnormalities with face validity for autism along with widespread synaptic dysfunction. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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8. Manning C, Kilner J, Neil L, Karaminis T, Pellicano E. {{Children on the autism spectrum update their behaviour in response to a volatile environment}}. {Dev Sci};2016 (Aug 6)
Typical adults can track reward probabilities across trials to estimate the volatility of the environment and use this information to modify their learning rate (Behrens et al., 2007). In a stable environment, it is advantageous to take account of outcomes over many trials, whereas in a volatile environment, recent experience should be more strongly weighted than distant experience. Recent predictive coding accounts of autism propose that autistic individuals will demonstrate atypical updating of their behaviour in response to the statistics of the reward environment. To rigorously test this hypothesis, we administered a developmentally appropriate version of Behrens et al.’s (2007) task to 34 cognitively able children on the autism spectrum aged between 6 and 14 years, 32 age- and ability-matched typically developing children and 19 typical adults. Participants were required to choose between a green and a blue pirate chest, each associated with a randomly determined reward value between 0 and 100 points, with a combined total of 100 points. On each trial, the reward was given for one stimulus only. In the stable condition, the ratio of the blue or green response being rewarded was fixed at 75:25. In the volatile condition, the ratio alternated between 80:20 and 20:80 every 20 trials. We estimated the learning rate for each participant by fitting a delta rule model and compared this rate across conditions and groups. All groups increased their learning rate in the volatile condition compared to the stable condition. Unexpectedly, there was no effect of group and no interaction between group and condition. Thus, autistic children used information about the statistics of the reward environment to guide their decisions to a similar extent as typically developing children and adults. These results help constrain predictive coding accounts of autism by demonstrating that autism is not characterized by uniform differences in the weighting of prediction error.
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9. Percy AK. {{Progress in Rett Syndrome: from discovery to clinical trials}}. {Wien Med Wochenschr};2016 (Aug 4)
Fifty years ago, Andreas Rett described a disorder in 22 females featuring prominent regression of fine motor and communication skills, cognitive impairment, stereotypic movements, periodic breathing, and gait abnormalities. This disorder became known as Rett syndrome (RTT) following the report of Hagberg et al. in 1983. Although RTT was scarcely recognized at that time in the United States, here the efforts of Rett and Hagberg led to rapid progress in recognition and diagnosis, a clearer understanding of its clinical and pathological underpinnings, and, ultimately, identification of mutations in the methyl-CpG-binding protein 2 (MECP2) gene as the primary cause of this unique and challenging neurodevelopmental disorder. Thereafter, a natural history study and critical translational research in animal models paved the way for potential disease-modifying agents to be assessed in human clinical trials. To be successful, the energies of the international community at all levels, including researchers in clinical and basic science, funding agencies, pharmaceutical companies, patient advocates, and, above all, parents and their children are essential. Otherwise, hopes for effective treatment, if not, a cure, will remain unfulfilled.
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10. Ryan CT, Kramer JM, Cohn ES. {{Exploring the Self-Disclosure Process in Peer Mentoring Relationships for Transition-Age Youth With Developmental Disabilities}}. {Intellect Dev Disabil};2016 (Aug);54(4):245-259.
The purpose of this study was to examine the role of the self-disclosure process in regard to connection development and relationship quality in peer mentoring relationships between transition-age youth (ages 15-20) and young adults (ages 18-36) with intellectual and/or developmental disabilities. Self-disclosure is defined as « the disclosure of inner feelings and experiences to another person » that « fosters liking, caring, and trust, thereby facilitating the deepening of close relationships » ( Reis & Shaver, 1988 , p. 372). Nine peer mentoring dyads with varied interpersonal connections were purposefully selected from a larger intervention study. Recorded mentoring conversations were analyzed for self-disclosure content and peer mentor response. The findings demonstrated trends related to connection development and differences across degree of connection. In relationships with stronger connections, there was a higher quantity of self-disclosure and more frequent disclosure of emotions, and peer mentors responded more frequently with advice and reciprocated self-disclosure. Implications of findings for promoting higher-quality peer mentoring relationships are discussed.
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11. Tint A, Maughan AL, Weiss JA. {{Community participation of youth with intellectual disability and autism spectrum disorder}}. {J Intellect Disabil Res};2016 (Aug 4)
BACKGROUND: Community participation is associated with a range of positive developmental outcomes; however, the frequency, depth and resources associated with participation for youth with intellectual disability (ID) and autism spectrum disorder (ASD) are not well understood. METHOD: Caregivers of 212 youth with ASD and ID and only ID, aged 11-22 years, completed an online survey. Comparisons were made of caregiver reports of diversity and frequency of participation, levels of participation involvement and related environmental barriers and supports. RESULTS: The diversity and frequency of community participation of youth with ASD and ID approximated that of youth with ID only. Youth with ASD and ID were reported to be significantly less involved in the community activities in which they participated. Environmental features, and in particular, the social demands of community-based activities, were significant barriers to youths’ participation. CONCLUSIONS: The current study highlights individual and environmental factors amenable to intervention that may foster successful community participation among youth with ASD and ID.
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12. Valero MR, Sadadcharam M, Henderson L, Freeman SR, Lloyd S, Green KM, Bruce IA. {{Compliance with cochlear implantation in children subsequently diagnosed with autism spectrum disorder}}. {Cochlear Implants Int};2016 (Aug 4):1-7.
OBJECTIVE: To assess the compliance with cochlear implantation (CI) in children subsequently diagnosed with autism spectrum disorder (ASD). METHODS: This was a retrospective case review and survey performed at a tertiary referral centre. Children meeting the criteria for CI who were implanted between 1989 and 2015 and who subsequently received a diagnosis of ASD were included. The primary outcome measure was to assess compliance with CI in children subsequently diagnosed with ASD. Secondary outcome measures included assessment of pre-CI risk factors that may have identified children at higher risk of a subsequent diagnosis of ASD, as well as the benefit obtained by these children following CI. RESULTS: 1050 children were implanted between 1989 and 2015. Of these, 22 children were diagnosed with ASD after receiving their CI. The average age at implantation was 2.6 years (median 3, range 1-8 years). The average age for diagnosis of ASD was 5 years, approximately 2 years (median 22 months, range 2-85 months) following CI. Of these, 16/22 (712.7%) regularly use their CI. 6/22 (27.2%) children became non-users of their implant. Some degree of verbal communication was used by 13/22 (59%) of our studied group. CONCLUSION: There is a range of level of disabilities in ASD, with some relatively minor social communication difficulties through to severe language, cognitive, and behavioural difficulties. Compliance with CI is variable and appears to correlate with the severity of the ASD. Preoperative counselling should include information about the possible impact of later diagnosed disabilities such as ASD on performance.
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13. Zhan X, Girirajan S, Zhao N, Wu MC, Ghosh D. {{A novel copy number variants kernel association test with application to autism spectrum disorders studies}}. {Bioinformatics};2016 (Aug 6)
MOTIVATION: Copy number variants (CNVs) have been implicated in a variety of neurodevelopmental disorders, including autism spectrum disorders, intellectual disability and schizophrenia. Recent advances in high-throughput genomic technologies have enabled rapid discovery of many genetic variants including CNVs. As a result, there is increasing interest in studying the role of CNVs in the etiology of many complex diseases. Despite the availability of an unprecedented wealth of CNV data, methods for testing association between CNVs and disease-related traits are still under-developed due to the low prevalence and complicated multi-scale features of CNVs. RESULTS: We propose a novel CNV kernel association test (CKAT) in this paper. To address the low prevalence, CNVs are first grouped into CNV regions (CNVR). Then, taking into account the multi-scale features of CNVs, we first design a single-CNV kernel which summarizes the similarity between two CNVs, and next aggregate the single-CNV kernel to a CNVR kernel which summarizes the similarity between two CNVRs. Finally, association between CNVR and disease-related traits is assessed by comparing the kernel-based similarity with the similarity in the trait using a score test for variance components in a random effect model. We illustrate the proposed CKAT using simulations and show that CKAT is more powerful than existing methods, while always being able to control the type I error. We also apply CKAT to a real dataset examining the association between CNV and autism spectrum disorders, which demonstrates the potential usefulness of the proposed method. AVAILABILITY: A R package to implement the proposed CKAT method is available at http://works.bepress.com/debashis_ghosh/ CONTACT: xzhan@fhcrc.org or debashis.ghosh@ucdenver.edu SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
