1. Andrews SL, Iyer S, Rodda C, Fitzgerald J. {{Scurvy: A rare cause for limp in a child with autism spectrum disorder}}. {Journal of paediatrics and child health}. 2018.
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2. Andrews SV, Sheppard B, Windham GC, Schieve LA, Schendel DE, Croen LA, Chopra P, Alisch RS, Newschaffer CJ, Warren ST, Feinberg AP, Fallin MD, Ladd-Acosta C. {{Case-control meta-analysis of blood DNA methylation and autism spectrum disorder}}. {Mol Autism}. 2018; 9: 40.
Background: Several reports have suggested a role for epigenetic mechanisms in ASD etiology. Epigenome-wide association studies (EWAS) in autism spectrum disorder (ASD) may shed light on particular biological mechanisms. However, studies of ASD cases versus controls have been limited by post-mortem timing and severely small sample sizes. Reports from in-life sampling of blood or saliva have also been very limited in sample size and/or genomic coverage. We present the largest case-control EWAS for ASD to date, combining data from population-based case-control and case-sibling pair studies. Methods: DNA from 968 blood samples from children in the Study to Explore Early Development (SEED 1) was used to generate epigenome-wide array DNA methylation (DNAm) data at 485,512 CpG sites for 453 cases and 515 controls, using the Illumina 450K Beadchip. The Simons Simplex Collection (SSC) provided 450K array DNAm data on an additional 343 cases and their unaffected siblings. We performed EWAS meta-analysis across results from the two data sets, with adjustment for sex and surrogate variables that reflect major sources of biological variation and technical confounding such as cell type, batch, and ancestry. We compared top EWAS results to those from a previous brain-based analysis. We also tested for enrichment of ASD EWAS CpGs for being targets of meQTL associations using available SNP genotype data in the SEED sample. Findings: In this meta-analysis of blood-based DNA from 796 cases and 858 controls, no single CpG met a Bonferroni discovery threshold of p < 1.12 x 10(- 7). Seven CpGs showed differences at p < 1 x 10(- 5) and 48 at 1 x 10(- 4). Of the top 7, 5 showed brain-based ASD associations as well, often with larger effect sizes, and the top 48 overall showed modest concordance (r = 0.31) in direction of effect with cerebellum samples. Finally, we observed suggestive evidence for enrichment of CpG sites controlled by SNPs (meQTL targets) among the EWAS CpG hits, which was consistent across EWAS and meQTL discovery p value thresholds. Conclusions: No single CpG site showed a large enough DNAm difference between cases and controls to achieve epigenome-wide significance in this sample size. However, our results suggest the potential to observe disease associations from blood-based samples. Among the seven sites achieving suggestive statistical significance, we observed consistent, and stronger, effects at the same sites among brain samples. Discovery-oriented EWAS for ASD using blood samples will likely need even larger samples and unified genetic data to further understand DNAm differences in ASD. Lien vers le texte intégral (Open Access ou abonnement)
3. Crane L, Batty R, Adeyinka H, Goddard L, Henry LA, Hill EL. {{Autism Diagnosis in the United Kingdom: Perspectives of Autistic Adults, Parents and Professionals}}. {J Autism Dev Disord}. 2018.
Accessing an autism diagnosis is a key milestone, both for an individual and their family. Using a qualitative methodology, the current study examined the views and experiences of ten autistic adults, ten parents of children on the autism spectrum, and ten professionals involved in autism diagnosis, all based in the United Kingdom (UK). Interviewing these 30 respondents about the diagnostic process and subsequent support options, the goal was to identify aspects of the diagnostic process that are working well, and areas in which improvements are needed. Using thematic analysis, three key themes were identified: the process of understanding and accepting autism; multiple barriers to satisfaction with the diagnostic process; and inadequate post-diagnostic support provision.
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4. Frazier TW, Dawson G, Murray D, Shih A, Sachs JS, Geiger A. {{Brief Report: A Survey of Autism Research Priorities Across a Diverse Community of Stakeholders}}. {J Autism Dev Disord}. 2018.
Inclusion of stakeholder voices in the allocation of research funding can increase the relevance of results and improve community engagement in research. We describe the results of an online survey that gathered input from community stakeholders regarding autism research priorities. A demographically diverse sample of respondents (N = 6004; 79.1% female; 72.5% ages 30-59; 86.4% USA) completed the survey. Results indicated a preference for applied relative to basic science topics, though both basic and applied science areas were rated as important. Respondents gave their highest ratings to research focused on co-occurring conditions, health and well-being, adult transition, and lifespan issues. These results can guide decision-making by public and private funders when developing science funding priorities and engaging in science dissemination activities.
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5. Gallagher C, McCarthy FP, Ryan RM, Khashan AS. {{Maternal Alcohol Consumption During Pregnancy and the Risk of Autism Spectrum Disorders in Offspring: A Retrospective Analysis of the Millennium Cohort Study}}. {J Autism Dev Disord}. 2018.
The objective of this retrospective analysis of the longitudinal Millennium Cohort Study was to examine whether maternal alcohol consumption in pregnancy (MACP) is associated with the development of childhood autism spectrum disorders (ASD). Data on MACP and ASD were obtained from parental questionnaires. There were 18,168 singleton mother-child pairs with data on MACP, and 12,595 answered the question on ASD when the children were 11 years old. No statistically significant association was found between MACP and ASD for light (OR 0.78, 95% CI 0.48-1.29), moderate (OR 0.89, 95% CI 0.35-2.27), or heavy (OR 1.54, 95% CI 0.56-4.21) MACP. Alcohol consumption during pregnancy was not associated with the risk of developing ASD in this study cohort.
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6. Georgiades S, Kasari C. {{Reframing Optimal Outcomes in Autism}}. {JAMA Pediatr}. 2018.
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7. Germain E, Foster NEV, Sharda M, Chowdhury R, Tryfon A, Doyle-Thomas KAR, Anagnostou E, Hyde KL. {{Pitch direction ability predicts melodic perception in autism}}. {Child Neuropsychol}. 2018: 1-21.
Individuals with autism spectrum disorders (ASDs) often present atypical auditory perception. Previous work has reported both enhanced low-level pitch discrimination and superior abilities to detect local pitch structure on higher-level melodic tasks in ASD. However, it is unclear how low and high levels of auditory perception are related in ASD or typical development (TD), or how this relationship might change across development and stimulus presentation rates. To these aims, in the present study, children with ASD and TD were tested on a low-level pitch direction discrimination task and a high-level melodic global-local task. Groups performed similarly on both of these auditory tasks. Moreover, individual differences in low-level pitch direction ability predicted performance on the higher-level global-local task, with a stronger relationship in ASD. Age did not affect the relationship between low-level and high-level pitch performance in either ASD or TD. However, there was a more positive effect of age on the high-level global-local task performance in TD than ASD. Finally, there was no effect of stimulus rate on the relationship between low-level and high-level pitch performance in either group. These findings provide a better understanding of how perception is associated across levels of processing in ASD versus TD. This work helps to better understand individual differences in auditory perception and to refine ASD phenotypes.
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8. Hurd C, Evans C, Renwick R. {{« Having friends is like having marshmallows »: Perspectives of transition-aged youths with intellectual and developmental disabilities on friendship}}. {J Appl Res Intellect Disabil}. 2018.
BACKGROUND: The literature emphasizes that friendships are essential to youths’ successful transition to and adjustment in adulthood. Few studies have explored the friendships of transition-aged youths with intellectual and developmental disabilities (IDD), and even fewer include youths’ own perspectives. This qualitative study explored the perspectives of transition-aged youths with IDD regarding their own experiences of friendship. METHOD: A subset of video-recorded data of 21 interviews with seven participants (20-24 years) was extracted from a larger study for secondary analysis. Data were analysed using thematic analysis, informed by constructivist grounded theory methods. RESULTS: Three themes were revealed: meanings of friends and friendship, deepening self-knowledge and negotiating in(ter)dependence. CONCLUSIONS: The findings expand existing knowledge about friendships of transition-aged youths with IDD. Findings can potentially inform development of new services or enhancement of existing services aimed at facilitating transition to adulthood for youths with IDD and point to key areas for future research.
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9. Jones KL, Pride MC, Edmiston E, Yang M, Silverman JL, Crawley JN, Van de Water J. {{Autism-specific maternal autoantibodies produce behavioral abnormalities in an endogenous antigen-driven mouse model of autism}}. {Mol Psychiatry}. 2018.
Immune dysregulation has been noted consistently in individuals with autism spectrum disorder (ASD) and their families, including the presence of autoantibodies reactive to fetal brain proteins in nearly a quarter of mothers of children with ASD versus <1% in mothers of typically developing children. Our lab recently identified the peptide epitope sequences on seven antigenic proteins targeted by these maternal autoantibodies. Through immunization with these peptide epitopes, we have successfully created an endogenous, antigen-driven mouse model that ensures a constant exposure to the salient autoantibodies throughout gestation in C57BL/6J mice. This exposure more naturally mimics what is observed in mothers of children with ASD. Male and female offspring were tested using a comprehensive sequence of behavioral assays, as well as measures of health and development highly relevant to ASD. We found that MAR-ASD male and female offspring had significant alterations in development and social interactions during dyadic play. Although 3-chambered social approach was not significantly different, fewer social interactions with an estrous female were noted in the adult male MAR-ASD animals, as well as reduced vocalizations emitted in response to social cues with robust repetitive self-grooming behaviors relative to saline treated controls. The generation of MAR-ASD-specific epitope autoantibodies in female mice prior to breeding created a model that demonstrates for the first time that ASD-specific antigen-induced maternal autoantibodies produced alterations in a constellation of ASD-relevant behaviors. Lien vers le texte intégral (Open Access ou abonnement)
10. Karahanoglu FI, Baran B, Nguyen QTH, Meskaldji DE, Yendiki A, Vangel M, Santangelo SL, Manoach DS. {{Diffusion-weighted imaging evidence of altered white matter development from late childhood to early adulthood in Autism Spectrum Disorder}}. {Neuroimage Clin}. 2018; 19: 840-7.
Autism Spectrum Disorder (ASD) is thought to reflect disrupted development of brain connectivity characterized by white matter abnormalities and dyscoordination of activity across brain regions that give rise to core features. But there is little consensus about the nature, timing and location of white matter abnormalities as quantified with diffusion-weighted MRI. Inconsistent findings likely reflect small sample sizes, motion confounds and sample heterogeneity, particularly different age ranges across studies. We examined the microstructural integrity of major white matter tracts in relation to age in 38 high functioning ASD and 35 typically developing (TD) participants, aged 8-25, whose diffusion-weighted scans met strict data-quality criteria and survived group matching for motion. While there were no overall group differences in diffusion measures, the groups showed different relations with age. Only the TD group showed the expected positive correlations of fractional anisotropy with age. In parallel, axial diffusivity was unrelated to age in TD, but showed inverse correlations with age in ASD. Younger participants with ASD tended to have higher fractional anisotropy and axial diffusivity than their TD peers, while the opposite was true for older participants. Most of the affected tracts – cingulum bundle, inferior and superior longitudinal fasciculi – are association bundles related to cognitive, social and emotional functions that are abnormal in ASD. The manifestations of abnormal white matter development in ASD as measured by diffusion-weighted MRI depend on age and this may contribute to inconsistent findings across studies. We conclude that ASD is characterized by altered white matter development from childhood to early adulthood that may underlie abnormal brain function and contribute to core features.
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11. Kay RB, Gabreski NA, Triplett JW. {{Visual subcircuit-specific dysfunction and input-specific mispatterning in the superior colliculus of fragile X mice}}. {J Neurodev Disord}. 2018; 10(1): 23.
BACKGROUND: Sensory processing deficits are frequently co-morbid with neurodevelopmental disorders. For example, patients with fragile X syndrome (FXS), caused by a silencing of the FMR1 gene, exhibit impairments in visual function specific to the dorsal system, which processes motion information. However, the developmental and circuit mechanisms underlying this deficit remain unclear. Recently, the superior colliculus (SC), a midbrain structure regulating head and eye movements, has emerged as a model for dissecting visual circuit development and function. Previous studies have demonstrated a critical role for activity-dependent processes in the development of visual circuitry in the SC. Based on the known role of the FMR1 gene product in activity-dependent synaptic plasticity, we explored the function and organization of visual circuits in the SC of a mouse model of FXS (Fmr1(-/y)). METHODS: We utilized in vivo extracellular electrophysiology in combination with computer-controlled visual stimuli to determine the receptive field properties of visual neurons in the SC of control and Fmr1(-/y) mice. In addition, we utilized anatomical tracing methods to assess the organization of visual inputs to the SC and along the retinogeniculocortical pathway. RESULTS: Receptive fields of visual neurons in the SC of Fmr1(-/y) mice were significantly larger than those found in control animals, though their shape and structure were unaffected. Further, selectivity for direction of movement was decreased, while selectivity to axis of movement was unchanged. Interestingly, axis-selective (AS) neurons exhibited a specific hyperexcitability in comparison to AS neurons in control SC and to direction-selective (DS) neurons in both control and Fmr1(-/y) SC. Anatomical tracings revealed that retinocollicular, retinogeniculate, and geniculocortical projections were normally organized in the absence of Fmr1. However, projections from primary visual cortex (V1) to the SC were poorly refined. CONCLUSIONS: Fmr1 is required for the proper development of visual circuit organization and function in the SC. We find that visual dysfunction is heterogeneously manifested in a subcircuit-specific manner in Fmr1(-/y) mice, consistent with previous studies in human FXS patients. Further, we show a specific alteration of inputs to the SC from V1, but not the retina. Together, these data suggest that Fmr1 may function in distinct ways during the development of different visual subcircuits.
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12. Khalifa D, Shahin O, Salem D, Raafat O. {{Serum glutamate was elevated in children aged 3-10 years with autism spectrum disorders when they were compared with controls}}. {Acta paediatrica (Oslo, Norway : 1992)}. 2018.
AIM: This study aimed to see whether measuring serum glutamate in children with autism spectrum disorder (ASD) could provide a biological marker that could allow early intervention. METHODS: Serum glutamate was measured in 30 patients aged 3-10 years presenting with ASD to the Abou El Reesh Hospitals, Cairo University, Egypt and 30 matched controls without ASD in 2015. The Vineland Social Maturity Scale was applied to assess social competence, self- help skills and adaptive behaviour in both groups. The severity of autism was measured with the Childhood Autism Rating Scale test. RESULTS: The patients’ group showed higher mean values of serum glutamate (5.888) than the control group (2.521) and the statistical difference was significant (p = 0.00021). There was no significant difference (p = 0.151) in the serum level of glutamate between patients receiving 1-2 mg of risperidone (6.519 +/- 2.851) and those who were free from any medication for at least six weeks (5.157 +/- 2.184). CONCLUSION: We found higher levels of serum glutamate in subjects with ASD and this might reflect altered glutamatergic neurotransmission which may aid early ASD detection. Further investigations are needed with a large number of participants to further clarify the possibility of using glutamate as a biomarker for ASD.
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13. Ko HY, Lee WH, Won EK, Ban JJ, Jung DE, Kim Y. {{The Reliability and Validity of the Korean Version of the Autism-Spectrum Quotient}}. {Psychiatry investigation}. 2018.
Objective: This study was conducted to investigate the reliability and validity of the Korean version of Autism-Spectrum Quotient (AQ). Methods: 20 participants with high-functioning autism (HFA) and 99 normal participants were recruited. All participants were completed the AQ and Empathy Quotient (EQ), and parents of the HFA group completed the parent-report AQ. For testing the reliability, we examined Cronbach’s alpha, performed item analysis, and compared self versus parent report score of HFA participants. For testing the validity, we compared the difference of the score of AQ among HFA and control group using independent t-tests, and performed correlation analysis between AQ and EQ. The receiver operation characteristic curve analysis was performed to determine a cut-off. Results: The Korean version of the AQ exhibited adequate internal consistency, and in most items, the HFA group scored higher in comparison to the control group. It was demonstrated that AQ has good discriminant validity through the confirmation of the significant difference in the AQ score between two groups. The concurrent validity was established through the significant correlation between AQ and EQ in the HFA group. The best estimate cut-off score of AQ for screening was 23. Conclusion: The Korean version of the AQ was determined as a reliable and valid instrument to assess HFA in Korean population.
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14. Linhorst DM, Loux TM, Dirks-Linhorst PA, Riley SE. {{Characteristics and Outcomes of People With Intellectual and Developmental Disabilities Participating in a Mental Health Court}}. {Am J Intellect Dev Disabil}. 2018; 123(4): 359-70.
This study compares characteristics and outcomes of 70 defendants with and 1,122 without intellectual and developmental disabilities (IDD) participating in a mental health court. Demographic and clinical characteristics differed, but criminal justice or program characteristics did not. Age, race, marital status, living situation, court location, health insurance status, and likelihood of mental illness or substance abuse diagnosis differed between the two groups. When controlling for other factors, a diagnosis of IDD did not affect the odds of negative termination from the court but did reduce the odds of rearrest within 1 year of leaving the court. Some mental health courts exclude people with IDD; the study concludes inclusion is appropriate.
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15. Lopez K, Magana S. {{Perceptions of Family Problems and Pessimism Among Latina and Non-Latina White Mothers Raising Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
To address the limited research on diverse families of children with ASD, we examined the impact of ASD on 46 Latina and 56 non-Latina White mothers from a resiliency perspective. We explored perceptions of family problems, optimism and pessimism among mothers of child with ASD between 1 and 22 years old. Mothers were recruited through support groups and listservs. Univariate and multivariate analyses were conducted. Results indicated fewer perceived family problems and less pessimism about the child’s future among Latina mothers. We found maternal optimism and family cohesion were associated with perceived family problems and mother’s pessimism about the child’s future. Understanding the impact of ASD among diverse families will aid in developing appropriate services that enhances family strengths.
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16. Madipakkam AR, Rothkirch M, Dziobek I, Sterzer P. {{Access to awareness of direct gaze is related to autistic traits}}. {Psychological medicine}. 2018: 1-7.
BACKGROUND: The atypical processing of eye contact is a characteristic hallmark of autism spectrum disorder (ASD). The severity of these symptoms, however, is thought to lie on a continuum that extends into the typical population. While behavioural evidence shows that differences in social cognitive tasks in typically developed (TD) adults are related to the levels of autistic-like traits, it remains unknown whether such a relation exists for the sensitivity to direct gaze. METHODS: In two experiments, we measured reaction times to detect the faces with direct and averted gaze, suppressed from awareness, i.e. the access to awareness. In experiment 1, we tested N = 19 clinically diagnosed adults with ASD and N = 22 TD matched controls, while in experiment 2, we tested an independent sample of N = 20 TD adults. RESULTS: In line with the literature, experiment 1 showed preferential processing of direct gaze in the TD group but not in the ASD group. Importantly, we found a linear relationship in both experiments between the levels of autistic traits within the groups of TD participants and their sensitivity to direct gaze: with increasing autistic characteristics, there was a decrease in sensitivity to direct gaze. CONCLUSION: These results provide the first evidence that differences in gaze processing and the sensitivity to direct gaze are already present in individuals with subclinical levels of autistic traits. Furthermore, they lend support to the continuum view of the disorder and could potentially help in an earlier diagnosis of individuals at high risk for autism.
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17. Malhi P, Kaur A, Singhi P, Sankhyan N. {{Sleep Dysfunction and Behavioral Daytime Problems in Children with Autism Spectrum Disorders: A Comparative Study}}. {Indian journal of pediatrics}. 2018.
OBJECTIVES: To compare parent reported sleep behaviors of children with Autism Spectrum Disorders (ASD) and normal healthy controls and to examine the association of sleep disturbances with daytime behavioral difficulties in children with ASD. METHODS: Sixty ASD children (85% boys) (Mean age=6.1 y, SD=2.4) were recruited from the Psychology unit of the Department of Pediatrics of a tertiary care hospital. An age and socio-economic status matched group of typically developing (TD) children (N=60) were also recruited. The Children’s Sleep Habits Questionnaire (CSHQ) was used to measure sleep problems. The Childhood Psychopathology Measurement Schedule was used to measure day time behavioral difficulties. RESULTS: Sleep problems were nearly two times more prevalent among children with ASD (88.3%) as compared to the TD group (46.7%) (chi(2)=23.74, P=0.0001). The total CSHQ and 6 out of the 8 subscales scores of the ASD group were also significantly higher than the TD group. Overall, children with ASD displayed significant more bedtime resistance than controls (t= 3.95, P=0.001). The sleep duration subscale showed that children with ASD, relative to the TD group, slept too little (chi(2)=23.08, P=0.0001), did not sleep the right amount of time (chi(2)= 11.86, P=0.003), and displayed significant variation in the duration of time slept (chi(2)=11.96, P=0.003). In addition, parent reported sleep dysfunction had a significant relationship with daytime reported behavior difficulties (r=0.53, P=0.01) in children with ASD. Stepwise multiple regression analysis revealed that 30% of the variance in number of daytime behavioral problems was explained by only two variables: total CSHQ scores and duration of night awake time (F=11.18, P=0.001). CONCLUSIONS: Children with ASD are at a high risk for sleep problems and this is associated with daytime behavior disturbances. Pediatricians should routinely screen ASD children for sleep problems and initiate timely and appropriate interventions.
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18. Mamashli F, Khan S, Bharadwaj H, Losh A, Pawlyszyn SM, Hamalainen MS, Kenet T. {{Maturational trajectories of local and long-range functional connectivity in autism during face processing}}. {Hum Brain Mapp}. 2018.
Autism spectrum disorder (ASD) is characterized neurophysiologically by, among other things, functional connectivity abnormalities in the brain. Recent evidence suggests that the nature of these functional connectivity abnormalities might not be uniform throughout maturation. Comparing between adolescents and young adults (ages 14-21) with ASD and age- and IQ-matched typically developing (TD) individuals, we previously documented, using magnetoencephalography (MEG) data, that local functional connectivity in the fusiform face areas (FFA) and long-range functional connectivity between FFA and three higher order cortical areas were all reduced in ASD. Given the findings on abnormal maturation trajectories in ASD, we tested whether these results extend to preadolescent children (ages 7-13). We found that both local and long-range functional connectivity were in fact normal in this younger age group in ASD. Combining the two age groups, we found that local and long-range functional connectivity measures were positively correlated with age in TD, but negatively correlated with age in ASD. Last, we showed that local functional connectivity was the primary feature in predicting age in ASD group, but not in the TD group. Furthermore, local functional connectivity was only correlated with ASD severity in the older group. These results suggest that the direction of maturation of functional connectivity for processing of faces from childhood to young adulthood is itself abnormal in ASD, and that during the processing of faces, these trajectory abnormalities are more pronounced for local functional connectivity measures than they are for long-range functional connectivity measures.
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19. Mash LE, Klein RM, Townsend J. {{Brief Report: A Gaming Approach to the Assessment of Attention Networks in Autism Spectrum Disorder and Typical Development}}. {J Autism Dev Disord}. 2018.
Attentional impairments are among the earliest identifiable features of autism spectrum disorders (ASDs). Three attention networks have been extensively studied using the attention network test (ANT), but this long and repetitive task may pose challenges for individuals with ASDs. The AttentionTrip was developed as a more engaging measure of attention network efficiency. In 20 adults with ASDs and 20 typically developing controls, both tasks produced typical network scores (all p < .003, all Cohen's d > 0.78). Reaction time was less variable in the AttentionTrip than the ANT, possibly reflecting improved task engagement. Although the AttentionTrip elicited more consistent responses throughout an experimental session, anomalously low split-half reliability for its executive control network suggests that some changes may be needed.
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20. McDermott S, Royer J, Cope T, Lindgren S, Momany E, Lee JC, McDuffie MJ, Lauer E, Kurtz S, Armour BS. {{Using Medicaid Data to Characterize Persons With Intellectual and Developmental Disabilities in Five U.S. States}}. {Am J Intellect Dev Disabil}. 2018; 123(4): 371-81.
This project sought to identify Medicaid members with intellectual and developmental disabilities (IDD) in five states (Delaware, Iowa, Massachusetts, New York, and South Carolina) to develop a cohort for subsequent analyses of medical conditions and service utilization. We estimated that over 300,000 Medicaid members in these states had IDD. All members with diagnostic codes for IDD were identified and the three most frequent diagnoses were unspecified intellectual disability, autism or pervasive developmental disorder, and cerebral palsy. The percentage of Medicaid members with IDD ranged from 2.3% in New York to 4.2% in South Carolina. Identifying and characterizing people with IDD is a first step that could guide public health promotion efforts for this population.
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21. Mitra M, Parish SL, Akobirshoev I, Rosenthal E, Moore Simas TA. {{Postpartum Hospital Utilization among Massachusetts Women with Intellectual and Developmental Disabilities: A Retrospective Cohort Study}}. {Maternal and child health journal}. 2018.
Objectives This study examined the risk of postpartum hospital admissions and emergency department (ED) visits among US women with intellectual and developmental disabilities (IDD). Methods We used the 2002-2012 Pregnancy to Early Life Longitudinal Data System and identified deliveries to women with and without IDD. Women with IDD (n = 1104) or case subjects were identified from the International Classification of Diseases and Related Health Problems 9th Revision (ICD-9 CM) codes. The study primary outcome measures were any postpartum hospital admission and any ED visit during three critical postpartum periods (1-42, 43-90, and 1-365 days). We conducted unadjusted and adjusted survival analysis using Cox proportional hazard models to compare the occurrence of first hospital admission or ED visits between women with and without IDD. Results We found that women with IDD had markedly higher rates of postpartum hospital admissions and ED visits during the critical postpartum periods (within 1-42, 43-90, and 91-365 days) after a childbirth. Conclusion for Practice Given the heightened risk of pregnancy complications and adverse birth outcomes and the findings of this study, there is an urgent need for clinical guidelines related to the frequency and timing of postpartum care among new mothers with IDD. Further, this study provides evidence of the need for evidence-based interventions for new mothers with IDD to provide preventive care and routine assessments that would identify and manage complications for both the mother and the infant outside of the traditional postpartum health care framework.
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22. Noonan H, I OD, Wilson C. {{Engaging with and navigating limbo: Lived experiences of siblings of adults with autism spectrum disorders}}. {J Appl Res Intellect Disabil}. 2018.
BACKGROUND: Supporting an adult with autism spectrum disorder (ASD) can be associated with family stress but also with personal growth and resilience. Research providing insight into how typically developing siblings make sense of their unique sibling relationships in adulthood remains limited. METHOD: Using interpretative phenomenological analysis, this study explored subjective experiences of eight siblings of adults with ASD and co-occurring intellectual disability. RESULTS: Analysis of interview transcripts revealed a complex lived experience explained by the overarching theme « engaging with and navigating limbo », which was characterized by commitment to the sibling relationship, power tensions in the family, uncertainty about the future and negotiating the tension between relational closeness and distance. CONCLUSION: Using family systems theory, overregulation and closed communication emerged as processes relevant to families living with ASD. Clinical opportunities to support family communication, change tolerance and belonging are discussed.
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23. Ocak E, Eshraghi RS, Danesh A, Mittal R, Eshraghi AA. {{Central Auditory Processing Disorders in Individuals with Autism Spectrum Disorders}}. {Balkan medical journal}. 2018.
The etiology and underlying pathogenetic mechanisms in autism spectrum disorder (ASD) are still largely unknown. In this manuscript, a comprehensive review of the studies which are relevant to ASD and CAPD is conducted and the relationship of ASD and central auditory processing disorders (CAPD) is discussed in the light of recent studies on this subject that may provide new paths in the therapeutical perspective. Many studies confirm that most of the individuals with ASD have some degree of sensory dysfunction related to disorders of processing auditory, visual, vestibular and/or tactile stimuli. Among these, some recent studies addressed CAPD. There is an increasing amount of effort for researches about the link between ASD and CAPD. Most of the studies investigating CAPD in patients with ASD use electrophysiological measurements such as mismatch negativity or P300 event related potentials. Besides these, many publications reported deterioration in speech perception and expression in ASD patients which may also be related with CAPD in this unique group of individuals.
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24. Soler J, Fananas L, Parellada M, Krebs MO, Rouleau GA, Fatjo-Vilas M. {{Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review}}. {Journal of psychiatry & neuroscience : JPN}. 2018; 43(4): 223-44.
Scaffolding proteins represent an evolutionary solution to controlling the specificity of information transfer in intracellular networks. They are highly concentrated in complexes located in specific subcellular locations. One of these complexes is the postsynaptic density of the excitatory synapses. There, scaffolding proteins regulate various processes related to synaptic plasticity, such as glutamate receptor trafficking and signalling, and dendritic structure and function. Most scaffolding proteins can be grouped into 4 main families: discs large (DLG), discs-large-associated protein (DLGAP), Shank and Homer. Owing to the importance of scaffolding proteins in postsynaptic density architecture, it is not surprising that variants in the genes that code for these proteins have been associated with neuropsychiatric diagnoses, including schizophrenia and autism-spectrum disorders. Such evidence, together with the clinical, neurobiological and genetic overlap described between schizophrenia and autism-spectrum disorders, suggest that alteration of scaffolding protein dynamics could be part of the pathophysiology of both. However, despite the potential importance of scaffolding proteins in these psychiatric conditions, no systematic review has integrated the genetic and molecular data from studies conducted in the last decade. This review has the following goals: to systematically analyze the literature in which common and/or rare genetic variants (single nucleotide polymorphisms, single nucleotide variants and copy number variants) in the scaffolding family genes are associated with the risk for either schizophrenia or autism-spectrum disorders; to explore the implications of the reported genetic variants for gene expression and/or protein function; and to discuss the relationship of these genetic variants to the shared genetic, clinical and cognitive traits of schizophrenia and autism-spectrum disorders.
25. Tian Y, Bai B, Zhang J, Li H. {{[Difference in Perioperative Management for Patients with and without Autism Spectrum Disorders undergoing General Anesthesia]}}. {Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae}. 2018; 40(3): 365-72.
Objective To compare the difference in perioperative management for patients with or without autism spectrum disorders(ASD) undergoing general anesthesia. Methods We retrospectively analyzed the clinical data of 10 ASD patients(case group) and 10 non-ASD patients(control group) undergoing general anesthesia from January 2013 to February 2018. Both groups were matched by age,gender,and surgical procedures. The induction mode,premedication patterns,narcotic drugs,time to wake up,post-anesthesia care unit(PACU) stay,and perioperative vital signs were compared. Results The main induction mode was combined intravenous and inhaled anesthesia(CIIA) in case group(6/10) and total intravenous anesthesia(TIVA) in control group(10/10)(chi(2)=8.571,P=0.003). The wake-up time are significantly longer in case group[(36.0+/-10.7) min] than in control group [(22.7+/-6.6)min] (t=18.000,P=0.005). Case group [(12.7+/-6.7)min] needed more time to obtain first vital sign than control group[(6.7+/-3.3)min](t=23.000,P=0.038). There were also significant differences in first systolic blood pressure (SBP)(t=15.500,P=0.007),preinductive SBP(t=24.000,P=0.048),and heart rate(t=22.000,P=0.033) between two groups. Conclusion Compared with non-ASD patients,ASD patients tend to use CIIA as the induction mode,have longer wake up time and later vital sign record,and are more likely to have peri-inductive vital signs.
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26. Towle PO, Vacanti-Shova K, Higgins-D’Alessandro A, Ausikaitis A, Reynolds C. {{A Longitudinal Study of Children Diagnosed with Autism Spectrum Disorder Before Age Three: School Services at Three Points Time for Three Levels of Outcome Disability}}. {J Autism Dev Disord}. 2018.
This study follows 70 children determined to have Autism Spectrum Disorder (ASD) before age three (Time 1). Parents filled out questionnaires and standardized measures about their child when he/she was school-aged (Time 2), including information about their children’s preschool, kindergarten, and grade school educational settings. At Time 2, the researchers placed children in three diagnostic groups of No ASD, ASD-Higher Functioning, and ASD-Lower Functioning. Retrospective results showed that most children were receiving intensive services at the preschool level. In kindergarten, there was some divergence among the three groups, with more intensive services continuing for the ASD groups. At school age, classroom placement and services reflected service patterns that were consistent with these three levels of disability.
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27. Um SM, Ha S, Lee H, Kim J, Kim K, Shin W, Cho YS, Roh JD, Kang J, Yoo T, Noh YW, Choi Y, Bae YC, Kim E. {{NGL-2 Deletion Leads to Autistic-like Behaviors Responsive to NMDAR Modulation}}. {Cell reports}. 2018; 23(13): 3839-51.
Netrin-G ligand 2 (NGL-2)/LRRC4, implicated in autism spectrum disorders and schizophrenia, is a leucine-rich repeat-containing postsynaptic adhesion molecule that interacts intracellularly with the excitatory postsynaptic scaffolding protein PSD-95 and trans-synaptically with the presynaptic adhesion molecule netrin-G2. Functionally, NGL-2 regulates excitatory synapse development and synaptic transmission. However, whether it regulates synaptic plasticity and disease-related specific behaviors is not known. Here, we report that mice lacking NGL-2 (Lrrc4(-/-) mice) show suppressed N-Methyl-D-aspartate receptor (NMDAR)-dependent synaptic plasticity in the hippocampus. NGL-2 associates with NMDARs through both PSD-95-dependent and -independent mechanisms. Moreover, Lrrc4(-/-) mice display mild social interaction deficits and repetitive behaviors that are rapidly improved by pharmacological NMDAR activation. These results suggest that NGL-2 promotes synaptic stabilization of NMDARs, regulates NMDAR-dependent synaptic plasticity, and prevents autistic-like behaviors from developing in mice, supporting the hypothesis that NMDAR dysfunction contributes to autism spectrum disorders.
