1. Cai T, Chen X, Li J, Xiang B, Yang L, Liu Y, Chen Q, He Z, Sun K, Liu PP. {{Identification of novel mutations in the HbF repressor gene BCL11A in patients with autism and intelligence disabilities}}. {Am J Hematol};2017 (Sep 10)
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2. Cieslinska A, Kostyra E, Chwala B, Moszynska-Dumara M, Fiedorowicz E, Teodorowicz M, Savelkoul HFJ. {{Vitamin D Receptor Gene Polymorphisms Associated with Childhood Autism}}. {Brain Sci};2017 (Sep 09);7(9)
BACKGROUND: Autism spectrum disorder (ASD) is a group of heterogeneous, behaviorally defined disorders whereby currently no biological markers are common to all affected individuals. A deregulated immune response may be contributing to the etiology of ASD. The active metabolite of vitamin D(3) has an immunoregulatory role mediated by binding to the vitamin D receptor (VDR) in monocyte, macrophages, and lymphocytes. The effects of vitamin D and interaction with the VDR may be influenced by polymorphism in the VDR gene. METHODS: Genetic association of four different VDR polymorphisms (Apa-I, Bsm-I, Taq-I, Fok-I) associated with susceptibility to the development of autism in children was investigated. RESULTS: We uniquely found an association between the presence of the T allele at position Taq-I and presence of the a allele at position Apa-I of the VDR gene with decreased ASD incidence. There was also an association between female gender and the presence of the T allele. We found no statistical significant correlation between VDR single nucleotide polymorphisms (SNPs) and vitamin D(3) concentration in serum of ASD children. CONCLUSION: Genetic polymorphism in two SNP in VDR may be correlated with development of ASD symptoms by influencing functionality of vitamin D(3) metabolism, while vitamin D(3) levels were not significantly different between ASD and non-ASD children.
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3. Damiano-Goodwin CR, Woynaroski TG, Simon DM, Ibanez LV, Murias M, Kirby A, Newsom CR, Wallace MT, Stone WL, Cascio CJ. {{Developmental sequelae and neurophysiologic substrates of sensory seeking in infant siblings of children with autism spectrum disorder}}. {Dev Cogn Neurosci};2017 (Aug 14)
It has been proposed that early differences in sensory responsiveness arise from atypical neural function and produce cascading effects on development across domains. This longitudinal study prospectively followed infants at heightened risk for autism spectrum disorder (ASD) based on their status as younger siblings of children diagnosed with ASD (Sibs-ASD) and infants at relatively lower risk for ASD (siblings of typically developing children; Sibs-TD) to examine the developmental sequelae and possible neurophysiological substrates of a specific sensory response pattern: unusually intense interest in nonsocial sensory stimuli or « sensory seeking. » At 18 months, sensory seeking and social orienting were measured with the Sensory Processing Assessment, and a potential neural signature for sensory seeking (i.e., frontal alpha asymmetry) was measured via resting state electroencephalography. At 36 months, infants’ social symptomatology was assessed in a comprehensive diagnostic evaluation. Sibs-ASD showed elevated sensory seeking relative to Sibs-TD, and increased sensory seeking was concurrently associated with reduced social orienting across groups and resting frontal asymmetry in Sibs-ASD. Sensory seeking also predicted later social symptomatology. Findings suggest that sensory seeking may produce cascading effects on social development in infants at risk for ASD and that atypical frontal asymmetry may underlie this atypical pattern of sensory responsiveness.
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4. Denisova K, Zhao G. {{Inflexible neurobiological signatures precede atypical development in infants at high risk for autism}}. {Sci Rep};2017 (Sep 12);7(1):11285.
Variability in neurobiological signatures is ubiquitous in early life but the link to adverse developmental milestones in humans is unknown. We examined how levels of signal and noise in movement signatures during the 1st year of life constrain early development in 71 healthy typically developing infants, either at High or Low familial Risk (HR or LR, respectively) for developing Autism Spectrum Disorders (ASD). Delays in early learning developmental trajectories in HR infants (validated in an analysis of 1,445 infants from representative infant-sibling studies) were predicted by worse stochastic patterns in their spontaneous head movements as early as 1-2 months after birth, relative to HR infants who showed more rapid developmental progress, as well as relative to all LR infants. While LR 1-2 mo-old infants’ movements were significantly different during a language listening task compared to during sleep, HR infants’ movements were more similar during both conditions, a striking lack of diversity that reveals context-inflexible experience of ambient information. Contrary to expectation, it is not the level of variability per se that is particularly detrimental in early life. Rather, inflexible sensorimotor systems and/or atypical transition between behavioral states may interfere with the establishment of capacity to extract structure and important cues from sensory input at birth, preceding and contributing to an atypical brain developmental trajectory in toddlerhood.
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5. Deserno MK, Borsboom D, Begeer S, Geurts HM. {{Relating ASD symptoms to well-being: moving across different construct levels}}. {Psychol Med};2017 (Sep 11):1-14.
BACKGROUND: Little is known about the specific factors that contribute to the well-being (WB) of individuals with autism spectrum disorder (ASD). A plausible hypothesis is that ASD symptomatology has a direct negative effect on WB. In the current study, the emerging tools of network analysis allow to explore the functional interdependencies between specific symptoms of ASD and domains of WB in a multivariate framework. We illustrate how studying both higher-order (total score) and lower-order (subscale) representations of ASD symptomatology can clarify the interrelations of factors relevant for domains of WB. METHODS: We estimated network structures on three different construct levels for ASD symptomatology, as assessed with the Adult Social Behavior Questionnaire (item, subscale, total score), relating them to daily functioning (DF) and subjective WB in 323 adult individuals with clinically identified ASD (aged 17-70 years). For these networks, we assessed the importance of specific factors in the network structure. RESULTS: When focusing on the highest representation level of ASD symptomatology (i.e. a total score), we found a negative connection between ASD symptom severity and domains of WB. However, zooming in on lower representation levels of ASD symptomatology revealed that this connection was mainly funnelled by ASD symptoms related to insistence on sameness and experiencing reduced contact and that those symptom scales, in turn, impact different domains of WB. CONCLUSIONS: Zooming in across construct levels of ASD symptom severity into subscales of ASD symptoms can provide us with important insights into how specific domains of ASD symptoms relate to specific domains of DF and WB.
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6. Fluegge K. {{Impaired amino acid metabolism in autism spectrum disorders}}. {Biomark Med};2017 (Sep 11)
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7. Huguet G, Benabou M, Bourgeron T. The Genetics of Autism Spectrum Disorders. In: Sassone-Corsi P, Christen Y, eds. A Time for Metabolism and Hormones. Cham (CH): Springer
Copyright 2016, The Author(s). 2016.
In the last 30 years, twin studies have indicated a strong genetic contribution to Autism Spectrum Disorders (ASD). The heritability of ASD is estimated to be 50 %, mostly captured by still unknown common variants. In approximately 10 % of patients with ASD, especially those with intellectual disability, de novo copy number or single nucleotide variants affecting clinically relevant genes for ASD can be identified. Given the function of these genes, it was hypothesized that abnormal synaptic plasticity and failure of neuronal/synaptic homeostasis could increase the risk of ASD. In parallel, abnormal levels of blood serotonin and melatonin were reported in a subset of patients with ASD. These biochemical imbalances could act as risk factors for the sleep/circadian disorders that are often observed in individuals with ASD. Here, we review the main pathways associated with ASD, with a focus on the roles of the synapse and the serotonin-NAS-melatonin pathway in the susceptibility of ASD.
8. Iverson JM, Northrup JB, Leezenbaum NB, Parlade MV, Koterba EA, West KL. {{Early Gesture and Vocabulary Development in Infant Siblings of Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Sep 12)
This study examined longitudinal growth in gestures and words in infants at heightened (HR) versus low risk (LR) for ASD. The MacArthur-Bates Communicative Development Inventory was administered monthly from 8 to 14 months and at 18 and 24 months to caregivers of 14 HR infants diagnosed with ASD (HR-ASD), 27 HR infants with language delay (HR-LD), 51 HR infants with no diagnosis (HR-ND), and 28 LR infants. Few differences were obtained between LR and HR-ND infants, but HR-LD and HR-ASD groups differed in initial skill levels and growth patterns. While HR-LD infants grew at rates comparable to LR and HR-ND infants, growth was attenuated in the HR-ASD group, with trajectories progressively diverging from all other groups.
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9. Kang MS, Choi TY, Ryu HG, Lee D, Lee SH, Choi SY, Kim KT. {{Autism-like behavior caused by deletion of vaccinia-related kinase 3 is improved by TrkB stimulation}}. {J Exp Med};2017 (Sep 12)
Vaccinia-related kinases (VRKs) are multifaceted serine/threonine kinases that play essential roles in various aspects of cell signaling, cell cycle progression, apoptosis, and neuronal development and differentiation. However, the neuronal function of VRK3 is still unknown despite its etiological potential in human autism spectrum disorder (ASD). Here, we report that VRK3-deficient mice exhibit typical symptoms of autism-like behavior, including hyperactivity, stereotyped behaviors, reduced social interaction, and impaired context-dependent spatial memory. A significant decrease in dendritic spine number and arborization were identified in the hippocampus CA1 of VRK3-deficient mice. These mice also exhibited a reduced rectification of AMPA receptor-mediated current and changes in expression of synaptic and signaling proteins, including tyrosine receptor kinase B (TrkB), Arc, and CaMKIIalpha. Notably, TrkB stimulation with 7,8-dihydroxyflavone reversed the altered synaptic structure and function and successfully restored autism-like behavior in VRK3-deficient mice. These results reveal that VRK3 plays a critical role in neurodevelopmental disorders and suggest a potential therapeutic strategy for ASD.
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10. Khongrum J, Wattanathorn J. {{Laser Acupuncture at HT7 Improves the Cerebellar Disorders in Valproic Acid-Rat Model of Autism}}. {J Acupunct Meridian Stud};2017 (Aug);10(4):231-239.
The novel therapeutic strategy against autism is essential due to the limited therapeutic efficacy. Based on the benefit of laser acupuncture at HT7 acupoint on the neurological disorders related with oxidative stress and inflammation, its benefit on oxidative stress, neuroinflammation, and GABAergic/glutamatergic imbalance in cerebellum of autism have been considered. To elucidate this issue, male rat pups were induced autistic-like conditions by valproic acid (VPA) and treated with laser acupuncture at HT7 acupoint once daily between postnatal Day 14 and Day 40. At the end of study, the changes of oxidative stress markers, the expressions of cytokines interleukin 6 (IL-6) and glutamic acid decarboxylase (GAD) proteins (65 kDa and 67 kDa) together with gamma-aminobutyric acid transaminase (GABA-T) activity and density of Purkinje cell in the cerebellum were assessed. The results showed that laser acupuncture HT7 decreased oxidative stress, IL-6 expression, and GABA-T activity but increased the expressions of GAD 65 kDa together with the density of Purkinje cells in the cerebellum. Therefore, laser acupuncture at HT7 is the potential strategy to improve the cerebellar disorders in VPA-rat model of autism. The mechanism may occur partly via the decrease of oxidative stress status, inflammation, and the improved GABAergic function.
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11. Mandell DS. {{A house is not a home: The great residential divide in autism care}}. {Autism};2017 (Oct);21(7):810-811.
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12. Pillai AS, McAuliffe D, Lakshmanan BM, Mostofsky SH, Crone NE, Ewen JB. {{Altered task-related modulation of long-range connectivity in children with autism}}. {Autism Res};2017 (Sep 12)
Functional connectivity differences between children with autism spectrum disorder (ASD) and typically developing children have been described in multiple datasets. However, few studies examine the task-related changes in connectivity in disorder-relevant behavioral paradigms. In this paper, we examined the task-related changes in functional connectivity using EEG and a movement-based paradigm that has behavioral relevance to ASD. Resting-state studies motivated our hypothesis that children with ASD would show a decreased magnitude of functional connectivity during the performance of a motor-control task. Contrary to our initial hypothesis, however, we observed that task-related modulation of functional connectivity in children with ASD was in the direction opposite to that of TDs. The task-related connectivity changes were correlated with clinical symptom scores. Our results suggest that children with ASD may have differences in cortical segregation/integration during the performance of a task, and that part of the differences in connectivity modulation may serve as a compensatory mechanism. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Decreased connectivity between brain regions is thought to cause the symptoms of autism. Because most of our knowledge comes from data in which children are at rest, we do not know how connectivity changes directly lead to autistic behaviors, such as impaired gestures. When typically developing children produced complex movements, connectivity decreased between brain regions. In children with autism, connectivity increased. It may be that behavior-related changes in brain connectivity are more important than absolute differences in connectivity in autism.
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13. Roberts CA, Hunter J, Cheng AL. {{Resilience in Families of Children With Autism and Sleep Problems Using Mixed Methods}}. {J Pediatr Nurs};2017 (Sep 12)
PURPOSE: About 80% of children with autism spectrum disorder (ASD) have sleep problems that may disrupt optimal family functioning. We explored the impact of sleep problems on families’ resilience. DESIGN AND METHODS: An explanatory sequential mixed methods design was used to discern whether resilience differed between families whose children with ASD have or do not have sleep problems, to seek predictors for family hardiness/resilience, and to determine whether narrative findings support, expand, or conflict quantitative findings. RESULTS: Seventy complete surveys were returned from parents of children with ASD to compare sleep and family functioning. Fifty-seven children had sleep problems and six interviews regarding eight of these children were conducted. Parents of children with ASD and sleep problems had lower levels of resilience than those who slept well. Predictors of hardiness were social support, coping-coherence (stress management), and lower strain scores. Qualitative content analysis revealed a journey analogy with themes: finding the trailhead, dual pathways, crossing paths and choosing travel companions, forging new paths, resting along the way, and seeing the vistas. CONCLUSIONS: Qualitative findings supported quantitative findings regarding the impact of sleep problems but also expanded them by illustrating how families’ resilience and children’s socialization improved over time. Social support predicted family hardiness. Parents revealed that sleep issues contributed to family strains and described their progression to resilience and embracing their child. PRACTICE IMPLICATIONS: Findings support the need for community and provider advocacy and implicates a need for development of sleep interventions on behalf of families and children with ASD.
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14. Schieve LA, Drews-Botsch C, Harris S, Newschaffer C, Daniels J, DiGuiseppi C, Croen LA, Windham GC. {{Maternal and Paternal Infertility Disorders and Treatments and Autism Spectrum Disorder: Findings from the Study to Explore Early Development}}. {J Autism Dev Disord};2017 (Sep 12)
Previous studies of associations between ASD and conception using assisted reproductive technology (ART) are inconsistent and few studies have examined associations with other infertility treatments or infertility disorders. We examined associations between ASD and maternal/paternal infertility disorders and numerous maternal treatments among 1538 mother-child pairs in the Study to Explore Early Development, a population-based case-control study. ASD was associated with any female infertility diagnosis and several specific diagnoses: blocked tubes, endometriosis, uterine-factor infertility, and polycystic ovarian syndrome. Stratified analyses suggested associations were limited to/much stronger among second or later births. The findings were not explained by sociodemographic factors such as maternal age or education or multiple or preterm birth. ASD was not associated with ART or non-ART infertility treatments.
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15. Uddin LQ, Dajani DR, Voorhies W, Bednarz H, Kana RK. {{Progress and roadblocks in the search for brain-based biomarkers of autism and attention-deficit/hyperactivity disorder}}. {Transl Psychiatry};2017 (Aug 22);7(8):e1218.
Children with neurodevelopmental disorders benefit most from early interventions and treatments. The development and validation of brain-based biomarkers to aid in objective diagnosis can facilitate this important clinical aim. The objective of this review is to provide an overview of current progress in the use of neuroimaging to identify brain-based biomarkers for autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD), two prevalent neurodevelopmental disorders. We summarize empirical work that has laid the foundation for using neuroimaging to objectively quantify brain structure and function in ways that are beginning to be used in biomarker development, noting limitations of the data currently available. The most successful machine learning methods that have been developed and applied to date are discussed. Overall, there is increasing evidence that specific features (for example, functional connectivity, gray matter volume) of brain regions comprising the salience and default mode networks can be used to discriminate ASD from typical development. Brain regions contributing to successful discrimination of ADHD from typical development appear to be more widespread, however there is initial evidence that features derived from frontal and cerebellar regions are most informative for classification. The identification of brain-based biomarkers for ASD and ADHD could potentially assist in objective diagnosis, monitoring of treatment response and prediction of outcomes for children with these neurodevelopmental disorders. At present, however, the field has yet to identify reliable and reproducible biomarkers for these disorders, and must address issues related to clinical heterogeneity, methodological standardization and cross-site validation before further progress can be achieved.
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16. Wilson KP, Carter MW, Wiener HL, DeRamus ML, Bulluck JC, Watson LR, Crais ER, Baranek GT. {{Object play in infants with autism spectrum disorder: A longitudinal retrospective video analysis}}. {Autism Dev Lang Impair};2017 (Jan-Dec);2
BACKGROUND AND AIMS: Early play behaviors may provide important information regarding later-diagnosed developmental delays. Play behaviors of young children with autism spectrum disorder (ASD) are restricted in diversity, frequency, and complexity. Most ASD research focuses on play in children over 18 months of age. This study examined three groups of infants (later diagnosed with ASD, later diagnosed with other developmental disorders, and typically developing) with the aims of: (1) describing the play behaviors of the three groups of infants at two time points (9-12 months and 15-18 months); (2) examining group differences in four hierarchical levels of play at both time points; (3) comparing groups with respect to the highest level of play achieved; and (4) determining if the highest level of play achieved by infants with developmental delays, including ASD, correlated with later developmental outcomes. METHODS: The current study used longitudinal retrospective video analysis to examine object play behaviors of the three groups of infants (total n=92) at two time points (time 1: 9-12 months of age, and time 2: 15-18 months of age). Coding of play behaviors was based on existing literature and distribution of data from the current study. Developmental outcomes examined were measured using the Vineland Adaptive Behavior Scales, Childhood Autism Rating Scale, and a non-verbal developmental quotient calculated using visual reception scores from the Mullen Scales for Early Learning. RESULTS: Results indicate group differences in play, with infants later diagnosed with ASD showing significantly less sophisticated play than those with typical development. In addition, modest but significant correlations were found between highest level of play achieved at time 2 (15-18 months) and later outcomes for those with developmental disorders, including ASD. CONCLUSIONS AND IMPLICATIONS: Results suggest that examination of infant play behaviors is important for early screening and intervention planning to potentially mitigate effects on later developmental outcomes.
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17. Xie S, Heuvelman H, Magnusson C, Rai D, Lyall K, Newschaffer CJ, Dalman C, Lee BK, Abel K. {{Prevalence of Autism Spectrum Disorders with and without Intellectual Disability by Gestational Age at Birth in the Stockholm Youth Cohort: a Register Linkage Study}}. {Paediatr Perinat Epidemiol};2017 (Sep 12)
BACKGROUND: Preterm birth has been linked to increased risk of autism spectrum disorders (ASD), but how this risk changes with gestational age at birth has not been well characterised, especially with regard to co-occurring intellectual disability (ID). METHODS: Register-based cohort study of singleton births in 1984-2007 in Stockholm County, Sweden (N total: 480 728; n ASD: 10 025). We assessed overall and sex-specific, gestational week-specific prevalence estimates and risk ratios of ASD with and without ID. RESULTS: Preterm and postterm births were associated with elevated risk of ASD, and the relationship between gestational age at birth and ASD with and without ID differed in males and females. Risk of ASD without ID was higher in preterm births among both sexes and decreased continuously with increasing length of gestation. Risk of ASD with ID was higher in both preterm and postterm births among both sexes, with postterm birth in females being more highly associated with ASD with ID than that in males. CONCLUSIONS: The relationship between gestational age at birth and ASD differs by the presence/absence of co-occurring ID and fetal sex. Both preterm and postterm birth are associated with increased risk of ASD. Risk of ASD is not constant within conventionally defined gestational age at birth periods. Further research on mechanism underlying these associations is needed.
