1. Frye RE, Wynne R, Rose S, Slattery J, Delhey L, Tippett M, Kahler SG, Bennuri SC, Melnyk S, Sequeira JM, Quadros E. {{Thyroid dysfunction in children with autism spectrum disorder is associated with folate receptor alpha autoimmune disorder}}. {J Neuroendocrinol};2017 (Feb 15)
Folate receptor alpha (FRalpha) autoantibodies (FRAAs) are prevalent in Autism Spectrum Disorder (ASD). FRAAs disrupt folate transport across the blood-brain barrier by binding to the FRalpha. Thyroid dysfunction is frequently found in children with ASD. We measured blocking and binding FRAAs and thyroid stimulating hormone (TSH), free T4 (FT4), total T3 (TT3), reverse T3 (rT3), thyroid releasing hormone (TRH) and other metabolites in 87 children with ASD, 84 of whom also underwent behavior and cognition testing and in 42 of whom FRAAs, TSH and FT4 were measured at two time points. To better understand the significance of the FRalpha in relation to thyroid development, we examined FRalpha expression on prenatal and postnatal thyroid. TSH, TT3 and rT3 were above the normal range in 7%, 33% and 51% of the participants and TRH was below the normal range in 13% of the participants. FT4 was rarely outside the normal range. TSH concentration was positively and the FT4/TSH, TT3/TSH and rT3/TSH ratios were inversely related to blocking FRAA titers. On repeated measurements, change in TSH and FT4/TSH ratio were found to correspond to change in blocking FRAA titers. TSH and the FT4/TSH, TT3/TSH and rT3/TSH ratios were related to irritability on the Aberrant Behavior Checklist and several scales of the Social Responsiveness Scale (SRS), while TT3 was associated with SRS subscales and TRH were related to Vineland Adaptive Behavior Scale subscales. The thyroid showed significant FRalpha expression during the early prenatal period but expression decreased significantly in later gestation and postnatal thyroid tissue. This study suggests that thyroid dysfunction in ASD may be related to the blocking FRAA. The high expression of FRalpha in the early fetal thyroid suggests that fetal and neonatal exposure to maternal FRAAs could affect the development of the thyroid and may contribute to the pathology in ASD. This article is protected by copyright. All rights reserved.
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2. Jeter K, Zlomke K, Shawler P, Sullivan M. {{Comprehensive Psychometric Analysis of the Eyberg Child Behavior Inventory in Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Feb 15)
Many assessment measures have only been validated for one specific diagnostic population, which is costly and reduces the clinical utility of assessments. The Eyberg Child Behavior Inventory (ECBI) is one popular measure designed to assess disruptive behavior problems in youth. The ECBI has sound psychometric properties in typically developing youth, but the factor structure has never been examined in children with autism spectrum disorder (ASD). Therefore, the current study conducted a comprehensive psychometric analysis of the ECBI in children with ASD. Retrospective data from a nationally representative sample was collected from 335 children with ASD ages 2-12 years old. A four factor solution was identified for this sample. Implications of these findings and directions for future research are discussed.
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3. Lake JK, Denton D, Lunsky Y, Shui AM, Veenstra-VanderWeele J, Anagnostou E. {{Medical Conditions and Demographic, Service and Clinical Factors Associated with Atypical Antipsychotic Medication Use Among Children with An Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Feb 16)
This study aimed to describe rates of antipsychotic medication use and the association between their use and demographics, clinical variables, and the use of behavioral/education services among children with ASD. For children with ASD ages 2-11 (n = 4749) and those 12-17 (n = 401), 5.4 and 17.7% were prescribed at least one atypical antipsychotic medication respectively. In the multivariable model of young children, older age, use of multiple psychotropic medications, prior ASD diagnosis, non-white Hispanic race/ethnicity, and oppositional defiant problems were associated with antipsychotic use. Among older children, only older age was associated with antipsychotic use. In at least one age group, antipsychotic medication use was also related to behaviour, family and occupational therapy, public insurance, site region, externalizing problems, body mass index, and sleep and gastrointestinal problems.
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4. Luo C, Burns E, Xu H. {{Association between autistic traits and emotion adaptation to partially occluded faces}}. {Vision Res};2017 (Feb 16);133:21-36.
Prolonged exposure to a happy face makes subsequently presented faces appear sadder: the facial emotion aftereffect (FEA). People with autism spectrum disorders and their relatives have diminished holistic perception of faces. Levels of autism can be measured continuously in the general population by autistic traits using the autism-quotient (AQ). Prior work has not found any association between AQ and FEA in adults, possibly due to non-holistic processing strategies employed by those at the higher end of the spectrum. In the present study, we tested whether AQ was associated with FEA to partially occluded faces. We hypothesized that inferring emotion from such faces would require participants to process their viewable parts as a gestalt percept, thus we anticipated this ability would diminish as autistic traits increased. In Experiment 1, we partially occluded the adapting faces with aligned or misaligned opaque bars. Both conditions produced significant FEAs, with aftereffects and AQ negatively correlated. In Experiment 2, we adapted participants to obscured faces flickering in luminance, and manipulated the facilitation of holistic perception by varying the synchronization of this flickering. We found significant FEAs in all conditions, but abolished its association with AQ. In Experiment 3, we showed that the association between AQ and FEA in the occluded conditions in Experiment 1 was not due to the recognizability or perceived emotional intensity of our adaptors; although the overall FEAs were linked to emotional intensity. We propose that increasing autistic traits are associated with diminishing abilities in perceiving emotional faces as a gestalt percept.
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5. McClure C, Reines S, Suchdev PS, Oladele A, Goodman AB. {{Adapting an Autism Screening Tool for Use in the DeKalb County Refugee Pediatric Clinic}}. {J Immigr Minor Health};2017 (Feb 14)
BACKGROUND: Minimal literature exists regarding Autism Spectrum Disorder (ASD) among refugee children in the United States. Reliable ASD screening tools, such as the M-CHAT-R/F, have yet to be culturally adapted and translated into some languages spoken in the homes of these children. METHODS: Pediatric refugee patients (n = 13) of caregivers of Bhutanese (Nepali-speaking) descent were screened using a newly translated Nepali M-CHAT-R/F. The M-CHAT-R/F was adapted based on feedback from Bhutanese caregivers and interpreter expertise. Qualitative interviews regarding caregiver awareness of ASD were conducted. RESULTS: Caregivers understood the majority of M-CHAT-R/F items (91%). Four items required revision. Interviews revealed minimal awareness among Bhutanese caregivers regarding ASD or child development. DISCUSSION: The M-CHAT-R/F was adapted into Nepali using a combination of translation protocols, and is publicly available for clinical use. Future validation studies are needed which will aid in clinical screening for and epidemiologic research of ASD in this population.
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6. Nair S, Jao Keehn RJ, Berkebile MM, Maximo JO, Witkowska N, Muller RA. {{Local resting state functional connectivity in autism: site and cohort variability and the effect of eye status}}. {Brain Imaging Behav};2017 (Feb 14)
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with prominent impairments in sociocommunicative abilities, which have been linked to anomalous brain network organization. Despite ample evidence of atypical long-distance connectivity, the literature on local connectivity remains small and divergent. We used resting-state functional MRI regional homogeneity (ReHo) as a local connectivity measure in comparative analyses across several well-matched low-motion subsamples from the Autism Brain Imaging Data Exchange and in-house data, with a grand total of 147 ASD and 184 typically developing (TD) participants, ages 7-18 years. We tested for group differences in each subsample, with additional focus on the difference between eyes-open and eyes-closed resting states. Despite selection of highest quality data and tight demographic and motion matching between groups and across samples, few effects in exactly identical loci (voxels) were found across samples. However, there was gross consistency across all eyes-open samples of local overconnectivity (ASD > TD) in posterior, visual regions. There was also gross consistency of local underconnectivity (ASD < TD) in cingulate gyrus, although exact loci varied between mid/posterior and anterior sections. While all eyes-open datasets showed the described gross similarities, the pattern of group differences for participants scanned with eyes closed was different, with local overconnectivity in ASD in posterior cingulate gyrus, but underconnectivity in some visual regions. Our findings suggest that fMRI local connectivity measures may be relatively susceptible to site and cohort variability and that some previous inconsistencies in the ASD ReHo literature may be reconciled by more careful consideration of eye status. Lien vers le texte intégral (Open Access ou abonnement)
7. Park SM, Park HR, Lee JH. {{MAPK3 at the Autism-Linked Human 16p11.2 Locus Influences Precise Synaptic Target Selection at Drosophila Larval Neuromuscular Junctions}}. {Mol Cells};2017 (Feb 15)
Proper synaptic function in neural circuits requires precise pairings between correct pre- and post-synaptic partners. Errors in this process may underlie development of neuropsychiatric disorders, such as autism spectrum disorder (ASD). Development of ASD can be influenced by genetic factors, including copy number variations (CNVs). In this study, we focused on a CNV occurring at the 16p11.2 locus in the human genome and investigated potential defects in synaptic connectivity caused by reduced activities of genes located in this region at Drosophila larval neuromuscular junctions, a well-established model synapse with stereotypic synaptic structures. A mutation of rolled, a Drosophila homolog of human mitogen-activated protein kinase 3 (MAPK3) at the 16p11.2 locus, caused ectopic innervation of axonal branches and their abnormal defasciculation. The specificity of these phenotypes was confirmed by expression of wild-type rolled in the mutant background. Albeit to a lesser extent, we also observed ectopic innervation patterns in mutants defective in Cdk2, Gaq, and Gp93, all of which were expected to interact with Rolled MAPK3. A further genetic analysis in double heterozygous combinations revealed a synergistic interaction between rolled and Gp93. In addition, results from RT-qPCR analyses indicated consistently reduced rolled mRNA levels in Cdk2, Gaq, and Gp93 mutants. Taken together, these data suggest a central role of MAPK3 in regulating the precise targeting of presynaptic axons to proper postsynaptic targets, a critical step that may be altered significantly in ASD.
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8. Patterson KC, Hawkins VE, Arps KM, Mulkey DK, Olsen ML. {{MeCP2 deficiency results in robust Rett-like behavioural and motor deficits in male and female rats}}. {Hum Mol Genet};2016 (Dec 15);25(24):5514-5515.
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9. Scherr JF, Hogan AL, Hatton D, Roberts JE. {{Stranger Fear and Early Risk for Social Anxiety in Preschoolers with Fragile X Syndrome Contrasted to Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Feb 16)
This study investigated behavioral indicators of social fear in preschool boys with fragile X syndrome (FXS) with a low degree of autism spectrum disorder (ASD) symptoms (FXS-Low; n = 29), FXS with elevated ASD symptoms (FXS-High; n = 25), idiopathic ASD (iASD; n = 11), and typical development (TD; n = 36). Gaze avoidance, escape behaviors, and facial fear during a stranger approach were coded. Boys with elevated ASD symptoms displayed more avoidant gaze, looking less at the stranger and parent than those with low ASD symptoms across etiologies. The iASD group displayed more facial fear than the other groups. Results suggest etiologically distinct behavioral patterns of social fear in preschoolers with elevated ASD symptoms.
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10. Thomas PA, King JS, Mendelson JL, Nelson-Gray RO. {{Parental psychopathology and expectations for the futures of children with autism spectrum disorder}}. {J Appl Res Intellect Disabil};2017 (Feb 16)
BACKGROUND: The influence of parental psychopathology and parental expectations on child well-being is well documented among typically developing populations. However, to date little research has examined the relationship among these factors in families of children with autism spectrum disorder (ASD). This study examines an observed relationship between parental psychopathology and expectations in families with children with ASD in the light of research in other populations. METHOD: Twenty-four parents of children diagnosed with ASD were assessed for symptoms of psychopathology. Parents completed measures of child ASD severity as well as their expectations for possible outcomes of their child. RESULTS: Two main effects were found: higher parental psychopathology and ASD severity were both related to lower expectations. Interaction of ASD severity and parental psychopathology in relation to parent expectations was not observed. CONCLUSION: These results emphasize the necessity of providing services not only to individuals diagnosed with ASD, but to caregivers as well.
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11. Williams ME, Hastings R, Charles JM, Evans S, Hutchings J. {{Parenting for Autism, Language, And Communication Evaluation Study (PALACES): protocol for a pilot randomised controlled trial}}. {BMJ Open};2017 (Feb 16);7(2):e014524.
INTRODUCTION: Children with autistic spectrum disorder (ASD) often have associated behavioural difficulties that can present a challenge for parents and parenting. There are several effective social learning theory-based parenting programmes for dealing with behavioural difficulties, including the Incredible Years (IY) parent programmes. However, these programmes typically do not specifically target parents of children with ASD. Recently, a new addition to the IY suite of programmes known as the IY Autistic Spectrum and Language Delays (IY-ASLD) parent programme was developed. The main aims of the present study are to examine the feasibility of delivering this programme within child health services and to provide initial evidence for effectiveness and economic costs. METHODS AND ANALYSIS: The Parenting for Autism, Language, And Communication Evaluation Study (PALACES) trial is a pragmatic, multicentre, pilot randomised controlled trial comparing the IY-ASLD programme with a wait-list control condition. 72 parents of children with ASD (aged 3-8 years) will be randomly allocated to either the intervention or control condition. Data will be collected prior to randomisation and 6 months postrandomisation for all families. Families in the intervention condition only will also be followed up at 12 and 18 months postrandomisation. This study will provide initial evidence of effectiveness for the newly developed IY-ASLD parenting programme. It will also add to the limited economic evidence for an intervention targeting parents of children with ASD and provide longer term data, an important component for evaluations of parenting programmes. ETHICS AND DISSEMINATION: Approval for the study was granted by the Research Ethics Committee at the School of Psychology, Bangor University (reference number: 2016-15768) and the North Wales Research Ethics Committee, UK (reference number: 16/WA/0224). The findings will be disseminated through research conferences and peer-reviewed journals. TRIAL REGISTRATION NUMBER: ISRCTN57070414; Pre-results.
