1. Andrews SV, Ellis SE, Bakulski KM, Sheppard B, Croen LA, Hertz-Picciotto I, Newschaffer CJ, Feinberg AP, Arking DE, Ladd-Acosta C, Fallin MD. {{Cross-tissue integration of genetic and epigenetic data offers insight into autism spectrum disorder}}. {Nat Commun}. 2017; 8(1): 1011.
Integration of emerging epigenetic information with autism spectrum disorder (ASD) genetic results may elucidate functional insights not possible via either type of information in isolation. Here we use the genotype and DNA methylation (DNAm) data from cord blood and peripheral blood to identify SNPs associated with DNA methylation (meQTL lists). Additionally, we use publicly available fetal brain and lung meQTL lists to assess enrichment of ASD GWAS results for tissue-specific meQTLs. ASD-associated SNPs are enriched for fetal brain (OR = 3.55; P < 0.001) and peripheral blood meQTLs (OR = 1.58; P < 0.001). The CpG targets of ASD meQTLs across cord, blood, and brain tissues are enriched for immune-related pathways, consistent with other expression and DNAm results in ASD, and reveal pathways not implicated by genetic findings. This joint analysis of genotype and DNAm demonstrates the potential of both brain and blood-based DNAm for insights into ASD and psychiatric phenotypes more broadly. Lien vers le texte intégral (Open Access ou abonnement)
2. Braukmann R, Lloyd-Fox S, Blasi A, Johnson MH, Bekkering H, Buitelaar JK, Hunnius S. {{Diminished socially selective neural processing in 5-month-old infants at high familial risk of autism}}. {Eur J Neurosci}. 2017.
The social and communicative difficulties that characterize autism spectrum disorder (ASD) are considered the most striking feature of the disorder. Research has reported that individuals with ASD show abnormalities in the brain regions associated with the processing of social information. Importantly, a recent study using functional near-infrared spectroscopy (fNIRS) found the first evidence of atypicalities in the neural processing of social information in 4- to 6-month-old infants at high familial risk of ASD. These findings provide an important step in the search for early markers of ASD and highlight the potential for neuroimaging techniques to detect atypical patterns of neural activity prior to the manifestation of most behavioural symptoms. This study aimed to extend the findings of reduced neural sensitivity to social stimuli in an independent cohort. Twenty-nine 5-month-old infants (13 low-risk infants, 16 high-risk infants) were presented with social and non-social visual stimuli, similar to the previous experiment. Importantly, a non-social dynamic motion control condition was introduced allowing the comparison between social dynamic and non-social, static, as well as dynamic stimuli. We found that while low-risk infants showed activation to social stimuli in the right posterior temporal cortex, this activation was reduced in infants at high risk of ASD. Although the current sample size was relatively small, our results replicate and extend previous work and provide evidence for a social processing difference in infants at risk of autism. Future research will determine whether these differences relate to an eventual ASD diagnosis or may rather reflect the broader autism phenotype.
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3. Brezis RS, Noy L, Alony T, Gotlieb R, Cohen R, Golland Y, Levit-Binnun N. {{Patterns of Joint Improvisation in Adults with Autism Spectrum Disorder}}. {Front Psychol}. 2017; 8: 1790.
Recent research on autism spectrum disorders (ASDs) suggests that individuals with autism may have a basic deficit in synchronizing with others, and that this difficulty may lead to more complex social and communicative deficits. Here, we examined synchronization during an open-ended joint improvisation (JI) paradigm, called the mirror game (MG). In the MG, two players take turns leading, following, and jointly improvising motion using two handles set on parallel tracks, while their motion tracks are recorded with high temporal and spatial resolution. A series of previous studies have shown that players in the MG attain moments of highly synchronized co-confident (CC) motion, in which there is no typical kinematic pattern of leader and reactive follower. It has been suggested that during these moments players act as a coupled unit and feel high levels of connectedness. Here, we aimed to assess whether participants with ASD are capable of attaining CC, and whether their MG performance relates to broader motor and social skills. We found that participants with ASD (n = 34) can indeed attain CC moments when playing with an expert improviser, though their performance was attenuated in several ways, compared to typically developing (TD) participants (n = 35). Specifically, ASD participants had lower rates of CC, compared with TD participants, which was most pronounced during the following rounds. In addition, the duration of their CC segments was shorter, across all rounds. When controlling for participants’ motor skills (both on the MG console, and more broadly) some of the variability in MG performance was explained, but group differences remained. ASD participants’ alexithymia further correlated with their difficulty following another’s lead; though other social skills did not relate to MG performance. Participants’ subjective reports of the game suggest that other cognitive and emotional factors, such as attention, motivation, and reward-processing, which were not directly measured in the experiment, may impact their performance. Together, these results show that ASD participants can attain moments of high motor synchronization with an expert improviser, even during an open-ended task. Future studies should examine the ways in which these skills may be further harnessed in clinical settings.
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4. Broder-Fingert S, Silva C, Silverstein M, Feinberg E. {{Participant characteristics in autism intervention studies}}. {Autism}. 2017: 1362361317722306.
The purpose of this Letter to the Editor is to discuss the recent paper, « Lessons learned: Engaging culturally diverse families in neurodevelopmental disorders intervention research » by Ratto et al. Specifically, we are interested in further exploring the question of « who participates in autism spectrum disorder intervention research, » and how this question may impact interpretation of Ratto and colleagues’ paper.
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5. Cacola P, Miller HL, Williamson PO. {{Behavioral comparisons in Autism Spectrum Disorder and Developmental Coordination Disorder: A systematic literature review}}. {Res Autism Spectr Disord}. 2017; 38: 6-18.
BACKGROUND: Autism Spectrum Disorder (ASD) and Developmental Coordination Disorder (DCD) are developmental disorders that, since the DSM-5, can be diagnosed as co-occurring conditions. While some recent studies suggest that ASD and DCD have similar traits, others show clear behavioral distinctions between the two conditions. By gathering all studies that included (1) an ASD group and a DCD group, (2) an ASD+DCD group and a DCD group, or (3) ASD, ASD+DCD, and DCD groups, we aimed to identify similarities and differences in behaviors between the two disorders. METHOD: We used a systematic search of PubMed (1946 -), Scopus (1970 -), PsycINFO (via EBSCO, 1600 -), CINAHL (via EBSCO, 1937 -), SportDiscus (via EBSCO, 1985 -), and WorldCat (via FirstSearch) in addition to reference list and author name searching PubMed, Scopus, PsycINFO, CINAHL, SportDiscus, and WorldCat to identify original studies that met the following criteria: (1) an ASD group and a DCD group, (2) an ASD+DCD group and a DCD group, or (3) ASD, ASD+DCD, and DCD groups. RESULTS: From the 1,598 articles screened, 11 were included in the qualitative analysis. The articles included reported more differences than similarities in individuals with ASD and DCD, with clear distinctions for working memory ability, gestural performance, grip selection, and cortical thickness. Only two studies reported similarities in face processing abilities and perceived competence, and the interventional studies showed group similarities in behavior improvement, such as intelligence and attention. CONCLUSIONS: Based on the articles reviewed, we conclude that while DCD and ASD share some behavioral symptoms, the symptom profiles of each disorder are unique and separable. We recommend that the evaluation of potential DCD in individuals with ASD be performed systematically and thoroughly, so as to distinguish this co-occurring condition from sensorimotor symptoms associated with ASD.
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6. Diallo FB, Fombonne E, Kisely S, Rochette L, Vasiliadis HM, Vanasse A, Noiseux M, Pelletier E, Renaud J, St-Laurent D, Lesage A. {{Prevalence and Correlates of Autism Spectrum Disorders in Quebec}}. {Can J Psychiatry}. 2017: 706743717737031.
OBJECTIVE: To estimate the prevalence, comorbidities, and service use of people with autism spectrum disorders (ASDs) based on data from Quebec Integrated Chronic Diseases Surveillance System (QICDSS). METHODS: We included all residents up to age 24 eligible for health plan coverage who were in Quebec for at least 1 day from January 1, 1996, to March 31, 2015. To be considered as having an ASD, an individual had to have had at least 1 physician claim or hospital discharge abstract from 2000 to 2015 indicating one of the following ASD diagnosis codes: ICD-9 codes 299.0 to 299.9 or their ICD-10 equivalents. RESULTS: The QICDSS shows that the prevalence of ASD has risen steadily over the past decade to approximately 1.2% ( n = 16,940) of children and youths aged 1 to 17 years in 2014 to 2015. The same prevalence was obtained using Ministry of Education data. Common medical comorbidities included congenital abnormalities of the nervous system, particularly in the first year of life. Psychiatric comorbidity was much more highly prevalent, especially common mental disorders like anxiety and attention-deficit/hyperactivity disorder. Children and youths with ASDs made on average 2.3 medical visits per year compared with 0.2 in the general population. Between 18 and 24 years old, the mental health needs of individuals with ASDs were met less by medical specialists and more by general practitioners. CONCLUSION: Information derived from this database could support and monitor development of better medical services coordination and shared care to meet the continuous and changing needs of patients and families over time.
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7. Hall SA, Rossetti Z. {{The roles of adult siblings in the lives of people with severe intellectual and developmental disabilities}}. {J Appl Res Intellect Disabil}. 2017.
BACKGROUND: Siblings of people with intellectual and developmental disabilities (IDD) often assume key roles to support their brothers and sisters. For people with more significant support needs, siblings may undertake additional roles and responsibilities throughout their lives. The purpose of the present study was to identify and describe the roles of adult siblings who have a brother or sister with severe IDD. METHOD: Seventy-nine adult siblings from 19 to 72 years of age completed an online survey with open-ended questions about the roles they play in their relationships with their brother or sister. RESULTS: Thematic analysis resulted in identification of several roles including caregiver, friend (social partner), advocate, legal representative, sibling (teacher/role model), leisure planner and informal service coordinator. CONCLUSION: Siblings assume key roles in the lives of people with IDD and need support from family and professionals to perform these roles.
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8. Kolakowska A, Landowska A, Anzulewicz A, Sobota K. {{Automatic recognition of therapy progress among children with autism}}. {Sci Rep}. 2017; 7(1): 13863.
The article presents a research study on recognizing therapy progress among children with autism spectrum disorder. The progress is recognized on the basis of behavioural data gathered via five specially designed tablet games. Over 180 distinct parameters are calculated on the basis of raw data delivered via the game flow and tablet sensors – i.e. touch screen, accelerometer and gyroscope. The results obtained confirm the possibility of recognizing progress in particular areas of development. The recognition accuracy exceeds 80%. Moreover, the study identifies a subset of parameters which appear to be better predictors of therapy progress than others. The proposed method – consisting of data recording, parameter calculation formulas and prediction models – might be implemented in a tool to support both therapists and parents of autistic children. Such a tool might be used to monitor the course of the therapy, modify it and report its results.
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9. Laptook AR, Shankaran S, Tyson JE, Munoz B, Bell EF, Goldberg RN, Parikh NA, Ambalavanan N, Pedroza C, Pappas A, Das A, Chaudhary AS, Ehrenkranz RA, Hensman AM, Van Meurs KP, Chalak LF, Hamrick SEG, Sokol GM, Walsh MC, Poindexter BB, Faix RG, Watterberg KL, Frantz ID, 3rd, Guillet R, Devaskar U, Truog WE, Chock VY, Wyckoff MH, McGowan EC, Carlton DP, Harmon HM, Brumbaugh JE, Cotten CM, Sanchez PJ, Hibbs AM, Higgins RD. {{Effect of Therapeutic Hypothermia Initiated After 6 Hours of Age on Death or Disability Among Newborns With Hypoxic-Ischemic Encephalopathy: A Randomized Clinical Trial}}. {JAMA}. 2017; 318(16): 1550-60.
Importance: Hypothermia initiated at less than 6 hours after birth reduces death or disability for infants with hypoxic-ischemic encephalopathy at 36 weeks’ or later gestation. To our knowledge, hypothermia trials have not been performed in infants presenting after 6 hours. Objective: To estimate the probability that hypothermia initiated at 6 to 24 hours after birth reduces the risk of death or disability at 18 months among infants with hypoxic-ischemic encephalopathy. Design, Setting, and Participants: A randomized clinical trial was conducted between April 2008 and June 2016 among infants at 36 weeks’ or later gestation with moderate or severe hypoxic-ischemic encephalopathy enrolled at 6 to 24 hours after birth. Twenty-one US Neonatal Research Network centers participated. Bayesian analyses were prespecified given the anticipated limited sample size. Interventions: Targeted esophageal temperature was used in 168 infants. Eighty-three hypothermic infants were maintained at 33.5 degrees C (acceptable range, 33 degrees C-34 degrees C) for 96 hours and then rewarmed. Eighty-five noncooled infants were maintained at 37.0 degrees C (acceptable range, 36.5 degrees C-37.3 degrees C). Main Outcomes and Measures: The composite of death or disability (moderate or severe) at 18 to 22 months adjusted for level of encephalopathy and age at randomization. Results: Hypothermic and noncooled infants were term (mean [SD], 39 [2] and 39 [1] weeks’ gestation, respectively), and 47 of 83 (57%) and 55 of 85 (65%) were male, respectively. Both groups were acidemic at birth, predominantly transferred to the treating center with moderate encephalopathy, and were randomized at a mean (SD) of 16 (5) and 15 (5) hours for hypothermic and noncooled groups, respectively. The primary outcome occurred in 19 of 78 hypothermic infants (24.4%) and 22 of 79 noncooled infants (27.9%) (absolute difference, 3.5%; 95% CI, -1% to 17%). Bayesian analysis using a neutral prior indicated a 76% posterior probability of reduced death or disability with hypothermia relative to the noncooled group (adjusted posterior risk ratio, 0.86; 95% credible interval, 0.58-1.29). The probability that death or disability in cooled infants was at least 1%, 2%, or 3% less than noncooled infants was 71%, 64%, and 56%, respectively. Conclusions and Relevance: Among term infants with hypoxic-ischemic encephalopathy, hypothermia initiated at 6 to 24 hours after birth compared with noncooling resulted in a 76% probability of any reduction in death or disability, and a 64% probability of at least 2% less death or disability at 18 to 22 months. Hypothermia initiated at 6 to 24 hours after birth may have benefit but there is uncertainty in its effectiveness. Trial Registration: clinicaltrials.gov Identifier: NCT00614744.
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10. Lee J, Spratling R, Helvig A. {{Sleep Characteristics in Mothers of Children With Developmental Disabilities}}. {J Pediatr Health Care}. 2017.
Impaired sleep can contribute to conditions such as cardiometabolic disorders, depression, and decreased immune function. Mothers of children with developmental disabilities (DDs) may be at greater risk for impaired sleep due to the sleep problems of their children. This cross-sectional study described the self-reported sleep characteristics of mothers of children (ages 6-12) with DDs by using a sleep diary and the Pittsburgh Sleep Quality Index (PSQI) as quantitative and qualitative measures of sleep in these mothers. The Consensus Sleep Diary was modified to ascertain how the child’s sleep and needs for care during the night impacted the mother’s sleep. The results showed that mothers had short sleep duration (nearly 40% slept <7 hours per night), woke up an average of 2.2 times per night (most commonly due to caregiving needs of children), and had poor sleep quality (mean PSQI global score of 7.9 [SD=4.8]). The sleep problems of children with DDs may influence mothers' sleep. Lien vers le texte intégral (Open Access ou abonnement)
11. Lee McIntyre L, Zemantic PK. {{Examining Services for Young Children with Autism Spectrum Disorder: Parent Satisfaction and Predictors of Service Utilization}}. {Early Child Educ J}. 2017; 45(6): 727-34.
Autism spectrum disorder (ASD) is the fastest growing group of neurodevelopmental disorders in childhood. Earlier detection means an increased need for early intervention and other educational services. This study examined what services a sample of young children with ASD received, what variables predicted service utilization, and how satisfied parents were with the services. Sixty children (2-7 years) and their families from the Northwestern United States participated in the study. Results suggest that, on average, children received 13 hours of educational and therapeutic services per week, with younger children receiving fewer services than older children. Child age, atypical behavior, and family income predicted number of service hours received. Children’s adaptive behavior and autism symptoms did not predict service hours. Although services received were, by most standards, minimal and far below best practice recommendations, parents reported high satisfaction, especially for their toddlers and preschool-aged children. Implications and future directions are described.
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12. Lloyd-Fox S, Blasi A, Pasco G, Gliga T, Jones EJH, Murphy DGM, Elwell CE, Charman T, Johnson MH. {{Cortical responses before 6 months of life associate with later autism}}. {Eur J Neurosci}. 2017.
Autism spectrum disorder (ASD) is a common, highly heritable, developmental disorder and later-born siblings of diagnosed children are at higher risk of developing ASD than the general population. Although the emergence of behavioural symptoms of ASD in toddlerhood is well characterized, far less is known about development during the first months of life of infants at familial risk. In a prospective longitudinal study of infants at familial risk followed to 36 months, we measured functional near-infrared spectroscopy (fNIRS) brain responses to social videos of people (i.e. peek-a-boo) compared to non-social images (vehicles) and human vocalizations compared to non-vocal sounds. At 4-6 months, infants who went on to develop ASD at 3 years (N = 5) evidenced-reduced activation to visual social stimuli relative to low-risk infants (N = 16) across inferior frontal (IFG) and posterior temporal (pSTS-TPJ) regions of the cortex. Furthermore, these infants also showed reduced activation to vocal sounds and enhanced activation to non-vocal sounds within left lateralized temporal (aMTG-STG/pSTS-TPJ) regions compared with low-risk infants and high-risk infants who did not develop ASD (N = 15). The degree of activation to both the visual and auditory stimuli correlated with parent-reported ASD symptomology in toddlerhood. These preliminary findings are consistent with later atypical social brain responses seen in children and adults with ASD, and highlight the need for further work interrogating atypical processing in early infancy and how it may relate to later social interaction and communication difficulties characteristic of ASD.
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13. Olivito G, Lupo M, Laghi F, Clausi S, Baiocco R, Cercignani M, Bozzali M, Leggio M. {{Lobular patterns of cerebellar resting-state connectivity in adults with Autism Spectrum Disorder}}. {Eur J Neurosci}. 2017.
Autism spectrum disorder is a neurodevelopmental disorder characterized by core deficits in social functioning. Core autistics traits refer to poor social and imagination skills, poor attention-switching/strong focus of attention, exceptional attention to detail, as expressed by the autism-spectrum quotient. Over the years, the importance of the cerebellum in the aetiology of autism spectrum disorder has been acknowledged. Neuroimaging studies have provided a strong support to this view, showing both structural and functional connectivity alterations to affect the cerebellum in autism spectrum disorder. According to the underconnectivity theory, disrupted connectivity within cerebello-cerebral networks has been specifically implicated in the aetiology of autism spectrum disorder. However, inconsistent results have been generated across studies. In this study, an integrated approach has been used in a selected population of adults with autism spectrum disorder to analyse both cerebellar morphometry and functional connectivity. In individuals with autism spectrum disorder, a decreased cerebellar grey matter volume affected the right Crus II, a region showing extensive connections with cerebral areas related to social functions. This grey matter reduction correlates with the degree of autistic traits as measured by autism-spectrum quotient. Interestingly, altered functional connectivity was found between the reduced cerebellar Crus II and contralateral cerebral regions, such as frontal and temporal areas. Overall, the present data suggest that adults with autism spectrum disorder present with specific cerebellar structural alterations that may affect functional connectivity within cerebello-cerebral modules relevant to social processing and account for core autistics traits.
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14. Rani V, Gautam S, Rawat JK, Singh M, Devi U, Yadav RK, Roy S, Kaithwas G. {{Effects of minocycline and doxycycline against terbutaline induced early postnatal autistic changes in albino rats}}. {Physiol Behav}. 2018; 183: 49-56.
The current study was initiated to explicate the shielding response of minocycline and doxycycline against early postnatal neurological damage and behavioral alteration convinced by terbutaline. Toxicity was induced by terbutaline at three successive days in the pups. The pups were scrutinized for behavioral, biochemical and inflammatory markers. Subsequent treatment with test drugs commenced a favorable effect on the autistic symptoms with more safeguard by doxycycline. The study also recognized peripheral inflammatory reactions and increased nitric oxide (NO) through terbutaline which was curtailed down by test drugs, with the much more noticeable effect of doxycycline. The GC-FID analysis and histopathological evaluation of the brain tissue elicited more pronounced protection by doxycycline. Doxycycline was also evident with remarkable down-regulation Pgp 9.5 [Ubiquitin carboxy-terminal hydrolase L1 (UCHL-1)] expression in the brain tissue in comparison to minocycline.
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15. Tudor ME, Rankin J, Lerner MD. {{A Model of Family and Child Functioning in Siblings of Youth with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2017.
The potential clinical needs of typically developing (TD) siblings of youth with autism spectrum disorder (ASD) remain disputed. A total of 239 mothers of youth aged 6-17, including one youth with ASD (M = 11.14 years; simplex families) and at least one other youth (M = 11.74 years) completed online standardized measures of various familial factors and TD youth outcomes. Overall, only 6-23% of siblings were identified within the clinical range of emotional, behavioral, or social functioning. Both maternal depression and sibling relationship were identified as key pathways in predicting siblings’ functioning within a good-fitting path analysis model. The current model is presented as a novel base for the development of future research and services for this unique population of children.
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16. West KL, Leezenbaum NB, Northrup JB, Iverson JM. {{The Relation Between Walking and Language in Infant Siblings of Children With Autism Spectrum Disorder}}. {Child Dev}. 2017.
In typical development, walk onset is accompanied by increased language growth (e.g., Walle & Campos, 2014). The present study explored whether this relation may be disrupted in the infant siblings of children with autism spectrum disorder (ASD; heightened risk of receiving an ASD diagnosis; HR), a population exhibiting substantial variability in motor and language development (e.g., Gamliel, Yirmiya, & Sigman, 2007; Landa & Garrett-Mayer, 2006). Receptive and expressive language were examined across the transition to walking in three groups of HR infants (no diagnosis, language delay, and ASD; N = 91, 8-18 months) and in infants with no family history of ASD (N = 25; 9-15 months). Only infants with an eventual ASD diagnosis did not show increased language growth following walk onset.
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17. Yang XL, Liang S, Zou MY, Sun CH, Han PP, Jiang XT, Xia W, Wu LJ. {{Are gastrointestinal and sleep problems associated with behavioral symptoms of autism spectrum disorder?}}. {Psychiatry Res}. 2017; 259: 229-35.
Many children with autism spectrum disorder (ASD) suffer from concurrent medical symptoms, including gastrointestinal (GI) and sleeping problems. However, there is limited information on the correlation between co-morbidities and autistic behavioral symptoms. In this study, we estimated the prevalence of GI and sleep problems in Chinese ASD children, examined the impacts of GI and sleep problems on autistic behavioral symptoms, and investigated the factors associated with GI and sleep problems. The survey included 169 ASD and 172 healthy children. Data regarding demographic characteristics, GI symptoms, sleep disturbances and behavioral symptoms were collected through questionnaires. GI and sleep problems were prevalent in Chinese ASD children. Moreover, ASD children with GI symptoms reported more severe ASD core symptoms than others. Autistic children’s GI symptoms were associated with maternal sleep problems during pregnancy, child’s 0-6 month food sources and picky eating. ASD children with sleep disturbances had lower performance in daily living skills, social cognition, social communication and intellectual development than ASD children without sleep disturbances. Sleep disturbances were associated with extra nutrient supply during lactation and feeding, and child’s picky eating. Autistic children with GI or/and sleep problems may represent clinically relevant subtypes of ASD, for which targeted treatments may be needed.
