1. Aathira R, Gulati S, Tripathi M, Shukla G, Chakrabarty B, Sapra S, Dang N, Gupta A, Kabra M, Pandey RM. {{Prevalence of Sleep Abnormalities in Indian Children With Autism Spectrum Disorder: A Cross-Sectional Study}}. {Pediatr Neurol};2017 (May 31)
BACKGROUND: The prevalence of autism spectrum disorder (ASD) is on the rise. Apart from the core behavioral issues of impaired communication, impaired social interaction, and restricted and/or repeated behavioral phenotype, comorbidities like sleep problems are increasingly getting recognized as important determinants of management and overall quality of life. METHODS: This study was conducted in a tertiary care teaching hospital in northern India over a two year period. Children diagnosed with ASD and normally developing children (control subjects) aged 3 to 10 years were enrolled in the study. Both groups underwent sleep evaluation based on the Children’s Sleep Habit Questionnaire. Children with ASD also underwent polysomnography, Childhood Autism Rating Scale, Childhood Behavioral Checklist, and Developmental Profile 3 assessments. RESULTS: The prevalence of poor sleepers among children with ASD and control subjects was 77.5% (confidence interval 66 to 86.5). and 29.2% (confidence interval 18.6 to 41.5), respectively (P < 0.001). The salient findings on polysomnography were reduced sleep efficiency, decreased rapid eye movement and slow wave sleep duration, and desaturation index>1. The Childhood Behavioral Checklist score was significantly high in poor sleepers compared with good sleepers on Children’s Sleep Habit Questionnaire (P = 0.004). There was no correlation of Childhood Autism Rating Scale or Developmental Profile 3 score with sleep problems in children with ASD. CONCLUSIONS: Nearly three fourths of children with ASD have sleep abnormalities with a possible effect on the behavioral phenotype. The polysomnographic findings provide further insight with opportunity for pharmacological interventions. Screening for sleep problems is imperative for the appropriate management and overall improvement in quality of life in children with ASD.
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2. Blainey SH, Rumball F, Mercer L, Evans LJ, Beck A. {{An evaluation of the effectiveness of psychological therapy in reducing general psychological distress for adults with autism spectrum conditions and comorbid mental health problems}}. {Clin Psychol Psychother};2017 (Jul 26)
OBJECTIVE: To investigate the effectiveness of psychological therapy in reducing psychological distress for adults with autism spectrum conditions (ASC) and co-morbid mental health conditions in routine clinical practice. To explore the effect of individual characteristics and service factors on change in general distress. METHOD: In a specialist psychological therapies service for adults with ASC, the Clinical Outcomes in Routine Evaluation-Outcome Measure (CORE-OM) self-report questionnaire of psychological distress is completed by clients at start and end of therapy. Change over time and reliable and clinical change was assessed for 81 of a total of 122 clients (66.4%). Factors which may influence change over time were explored using available clinical information. RESULTS: Overall, there was a significant reduction in CORE-OM score during therapy with a small effect size. Most clients showed an improvement in psychological distress over therapy (75.4% improved, with 36.9% of these showing reliable changes). Significant and comparable reductions from pre-therapy to post-therapy were seen across the sample, showing that individual differences did not mediate therapy effectiveness. CORE-OM scores mediate the association between age of ASD diagnosis and hours of therapeutic input required, with greater age at diagnosis and higher distress associated with longer therapy duration. CONCLUSIONS: Our preliminary findings suggest that psychological therapy may be effective in reducing general distress for clients with ASC and co-morbid mental health conditions and should be routinely offered. Individuals who are diagnosed with ASD in adulthood are likely to require a longer course of therapy when their general distress scores are high. Key Practitioner Message Co-morbid mental health conditions are common in adults on the autism spectrum, but there is little evidence for what might be helpful in reducing rates of mental health conditions in this population. This study demonstrates that adapted psychological therapy offered in a specialist adult ASC service was somewhat effective in reducing distress for adults with autism. Individual characteristics and service factors did not influence the extent of change in general distress over the course of therapy; significant and comparable reductions in general distress from pre-therapy to post-therapy were seen across the sample. Individuals who are diagnosed with ASD in adulthood are likely to require a longer course of therapy when their pre-therapy general distress scores are high. Adaptations that may need to be made to services and to therapy delivery are discussed.
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3. Burke SM. {{The Use of Technology by Adolescents With Intellectual and Developmental Disabilities}}. {J Pediatr Nurs};2017 (Jul 21)
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4. Chaudhry A, Chung BH, Stavropoulos DJ, Araya MP, Ali A, Heon E, Chitayat D. {{Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion}}. {Am J Med Genet A};2017 (Jul 25)
We report on a girl diagnosed prenatally with agenesis of the corpus callosum (ACC) on fetal ultrasound and MRI. On postnatal follow-up she was noted to have developmental delay, facial dysmorphism, autism spectrum disorder, and posterior polymorphous corneal dystrophy (PPD). Array-comparative genomic hybridization analysis (Array-CGH) showed a 2.05 Mb de novo interstitial deletion at 10p11.23p11.22. The deleted region overlaps 1 OMIM Morbid Map gene, ZEB1 (the zinc finger E-box binding homeobox transcription factor 1), previously associated with posterior polymorphous corneal dystrophy type 3 (PPCD3). To our best knowledge this is the first reported case with a deletion of the ZEB1 gene in an individual with ACC and PPD, showing that the haploinsufficiency of the ZEB1 is likely the cause of our patient’s phenotype.
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5. Croen LA, Shankute N, Davignon M, Massolo ML, Yoshida C. {{Demographic and Clinical Characteristics Associated with Engagement in Behavioral Health Treatment Among Children with Autism Spectrum Disorders}}. {J Autism Dev Disord};2017 (Jul 26)
This study investigates demographic and clinical factors associated with initiation, continuation, and adherence to behavioral health treatment (BHT) among children with autism spectrum disorder. Among 293 insured children referred for applied behavior analysis (ABA) based BHT, 23% never initiated treatment. Among those initiating treatment, 31% discontinued treatment within 1 year of treatment initiation, and only 15% received 80% or more of recommended treatment hours. Younger age at referral to treatment, private health insurance, and receiving more than 10 h/week of BHT were associated with treatment engagement. Co-occurring psychiatric and medical conditions were related to treatment discontinuation among children 5 years or older. These findings suggest specific subgroups that may benefit from additional support with engaging in recommended behavioral health treatment.
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6. Dieleman LM, De Pauw SSW, Soenens B, Beyers W, Prinzie P. {{Examining bidirectional relationships between parenting and child maladjustment in youth with autism spectrum disorder: A 9-year longitudinal study-CORRIGENDUM}}. {Dev Psychopathol};2017 (Jul 26):1-2.
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7. Ethridge LE, White SP, Mosconi MW, Wang J, Pedapati EV, Erickson CA, Byerly MJ, Sweeney JA. {{Erratum to: Neural synchronization deficits linked to cortical hyper-excitability and auditory hypersensitivity in fragile X syndrome}}. {Mol Autism};2017;8:38.
[This corrects the article DOI: 10.1186/s13229-017-0140-1.].
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8. Fitzgerald J, Leemans A, Kehoe E, O’Hanlon E, Gallagher L, McGrath J. {{Abnormal Fronto-Parietal White Matter Organisation in the Superior Longitudinal Fasciculus Branches in Autism Spectrum Disorders}}. {Eur J Neurosci};2017 (Jul 25)
Core features of ASD may be underpinned by disrupted functional and structural neural connectivity. Abnormal fronto-parietal functional connectivity has been widely reported in the literature; this may be underpinned by disrupted microstructural organisation of white matter. The Superior Longitudinal Fasciculus (SLF) is a major fronto-parietal white matter tract, the structure of which has been little studied in ASD. The fronto-parietal projections of this tract (SLF I, II and III) are thought to play an important role in a number of cognitive functions including attention and visuospatial processing. To date, the isolation of the fronto-parietal branches of the SLF has been hampered by limitations of traditional tractography approaches. Constrained spherical deconvolution (CSD)-based tractography is an advanced approach that allows valid isolation of the fronto-parietal branches of the SLF. Diffusion MRI data was acquired from 45 participants with ASD and 45 age and IQ-matched controls. The SLF I, II and III branches were isolated using CSD-based tractography in ExploreDTI. Significantly greater fractional anisotropy (FA) was observed in the right SLF II relative to controls. The ASD group also showed greater linear diffusion coefficient (CL) in the left SLF I and the right SLF II. In the SLF II, the ASD group had significantly greater right lateralisation of FA in comparison to the control group. The clinical and functional implications of increased FA in white matter are poorly understood, however it is possible that this increased white matter organisation in the SLF in ASD may contribute to relative processing advantages in the condition. This article is protected by copyright. All rights reserved.
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9. Liu S, Yu C, Conner BT, Wang S, Lai W, Zhang W. {{Autistic traits and internet gaming addiction in Chinese children: The mediating effect of emotion regulation and school connectedness}}. {Res Dev Disabil};2017 (Sep);68:122-130.
This report details an 18-month longitudinal study designed to investigate the influence of autistic traits’ on internet gaming addiction (IGA) in children. A total of 420 Chinese children (220 boys, Mean age=9.74+/-0.45) participated in the research. Autistic traits were measured in the 4th grade and emotion regulation, school connectedness and IGA measured in both the 4th and 5th grades. After controlling for age, sex, and sensation seeking, results showed that autistic traits were related to decreased emotion regulation, which in turn was related to lower school connectedness, which was related to increased IGA. The results suggest that improving emotion regulation and school connectedness could reduce the risk of IGA. As a result, these findings may inform intervention and prevention programs targeting children with IGA, especially among those with high levels of autistic traits.
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10. Mayes SD, Breaux RP, Calhoun SL, Frye SS. {{High Prevalence of Dysgraphia in Elementary Through High School Students With ADHD and Autism}}. {J Atten Disord};2017 (Jul 01):1087054717720721.
OBJECTIVE: Prevalence of dysgraphia by age across all grade levels was determined in students with ADHD or autism. METHOD: Referred children with normal intelligence and ADHD-Combined, ADHD-Inattentive, or autism ( N = 1,034) were administered the Developmental Test of Visual-Motor Integration (VMI) and Wechsler Intelligence Scale for Children (WISC). RESULTS: VMI and WISC Coding scores were significantly lower than IQ and the normal mean of 100 for all diagnoses. More than half (59%) had dysgraphia, and 92% had a weakness in graphomotor ability relative to other abilities. Dysgraphia prevalence did not differ between diagnostic or age groups (6-7 years, 56%; 8-10 years, 60%; and 11-16 years, 61%). CONCLUSION: Dysgraphia is common at all ages in children and adolescents with ADHD and autism. Accommodations and strategies for addressing this problem are discussed.
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11. McCullagh EA, Salcedo E, Huntsman MM, Klug A. {{Tonotopic alterations in inhibitory input to the medial nucleus of the trapezoid body in a mouse model of Fragile X syndrome}}. {J Comp Neurol};2017 (Jul 26)
Hyperexcitability and the imbalance of excitation/inhibition are one of the leading causes of abnormal sensory processing in Fragile X syndrome (FXS). The precise timing and distribution of excitation and inhibition is crucial for auditory processing at the level of the auditory brainstem, which is responsible for sound localization ability. Sound localization is one of the sensory abilities disrupted by loss of the Fragile X Mental Retardation 1 (Fmr1) gene. Using triple immunofluorescence staining we tested whether there were alterations in the number and size of presynaptic structures for the three primary neurotransmitters (glutamate, glycine and GABA) in the auditory brainstem of Fmr1 knockout mice. We found decreases in either glycinergic or GABAergic inhibition to the medial nucleus of the trapezoid body (MNTB) specific to the tonotopic location within the nucleus. MNTB is one of the primary inhibitory nuclei in the auditory brainstem and participates in the sound localization process with fast and well-timed inhibition. Thus, a decrease in inhibitory afferents to MNTB neurons should lead to greater inhibitory output to the projections from this nucleus. In contrast, we did not see any other significant alterations in balance of excitation/inhibition in any of the other auditory brainstem nuclei measured, suggesting that the alterations observed in the MNTB are both nucleus and frequency specific. We furthermore show that glycinergic inhibition may be an important contributor to imbalances in excitation and inhibition in FXS and that the auditory brainstem is a useful circuit for testing these imbalances. This article is protected by copyright. All rights reserved.
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12. Murphy CM, Christakou A, Giampietro V, Brammer M, Daly EM, Ecker C, Johnston P, Spain D, Robertson DM, Murphy DG, Rubia K. {{Abnormal functional activation and maturation of ventromedial prefrontal cortex and cerebellum during temporal discounting in autism spectrum disorder}}. {Hum Brain Mapp};2017 (Jul 26)
People with autism spectrum disorder (ASD) have poor decision-making and temporal foresight. This may adversely impact on their everyday life, mental health, and productivity. However, the neural substrates underlying poor choice behavior in people with ASD, or its’ neurofunctional development from childhood to adulthood, are unknown. Despite evidence of atypical structural brain development in ASD, investigation of functional brain maturation in people with ASD is lacking. This cross-sectional developmental fMRI study investigated the neural substrates underlying performance on a temporal discounting (TD) task in 38 healthy (11-35 years old) male adolescents and adults with ASD and 40 age, sex, and IQ-matched typically developing healthy controls. Most importantly, we assessed group differences in the neurofunctional maturation of TD across childhood and adulthood. Males with ASD had significantly poorer task performance and significantly lower brain activation in typical regions that mediate TD for delayed choices, in predominantly right hemispheric regions of ventrolateral/dorsolateral prefrontal cortices, ventromedial prefrontal cortex, striatolimbic regions, and cerebellum. Importantly, differential activation in ventromedial frontal cortex and cerebellum was associated with abnormal functional brain maturation; controls, in contrast to people with ASD, showed progressively increasing activation with increasing age in these regions; which furthermore was associated with performance measures and clinical ASD measures (stereotyped/restricted interests). Findings provide first cross-sectional evidence that reduced activation of TD mediating brain regions in people with ASD during TD is associated with abnormal functional brain development in these regions between childhood and adulthood, and this is related to poor task performance and clinical measures of ASD. Hum Brain Mapp, 2017. (c) 2017 Wiley Periodicals, Inc.
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13. Nagy J, Kobolak J, Berzsenyi S, Abraham Z, Avci HX, Bock I, Bekes Z, Hodoscsek B, Chandrasekaran A, Teglasi A, Dezso P, Kovanyi B, Voros ET, Fodor L, Szel T, Nemeth K, Balazs A, Dinnyes A, Lendvai B, Levay G, Roman V. {{Altered neurite morphology and cholinergic function of induced pluripotent stem cell-derived neurons from a patient with Kleefstra syndrome and autism}}. {Transl Psychiatry};2017 (Jul 25);7(7):e1179.
The aim of the present study was to establish an in vitro Kleefstra syndrome (KS) disease model using the human induced pluripotent stem cell (hiPSC) technology. Previously, an autism spectrum disorder (ASD) patient with Kleefstra syndrome (KS-ASD) carrying a deleterious premature termination codon mutation in the EHMT1 gene was identified. Patient specific hiPSCs generated from peripheral blood mononuclear cells of the KS-ASD patient were differentiated into post-mitotic cortical neurons. Lower levels of EHMT1 mRNA as well as protein expression were confirmed in these cells. Morphological analysis on neuronal cells differentiated from the KS-ASD patient-derived hiPSC clones showed significantly shorter neurites and reduced arborization compared to cells generated from healthy controls. Moreover, density of dendritic protrusions of neuronal cells derived from KS-ASD hiPSCs was lower than that of control cells. Synaptic connections and spontaneous neuronal activity measured by live cell calcium imaging could be detected after 5 weeks of differentiation, when KS-ASD cells exhibited higher sensitivity of calcium responses to acetylcholine stimulation indicating a lower nicotinic cholinergic tone at baseline condition in KS-ASD cells. In addition, gene expression profiling of differentiated neuronal cells from the KS-ASD patient revealed higher expression of proliferation-related genes and lower mRNA levels of genes involved in neuronal maturation and migration. Our data demonstrate anomalous neuronal morphology, functional activity and gene expression in KS-ASD patient-specific hiPSC-derived neuronal cultures, which offers an in vitro system that contributes to a better understanding of KS and potentially other neurodevelopmental disorders including ASD.
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14. Rankin JA, Tomeny TS, Barry TD. {{Multi-informant assessment of siblings of youth with autism spectrum disorder: Parent-child discrepancies in at-risk classification}}. {Res Dev Disabil};2017 (Sep);68:78-87.
BACKGROUND: The behavioral and emotional functioning of typically-developing (TD) siblings of youth with autism spectrum disorder (ASD) has been frequently assessed in the literature; however, these assessments typically include only one informant, rarely considering differences between parent and self-reports of sibling adjustment. AIMS: This study examined parent-youth reported informant discrepancies in behavioral and emotional functioning, including whether parent and youth reports yielded the same conclusions regarding TD sibling risk status. METHODS, PROCEDURES, AND RESULTS: Among 113 parents and TD siblings of youth with ASD, TD siblings self-reported more overall, conduct, hyperactivity, and peer problems (compared to parent reports). Although few siblings were considered at-risk, those who were identified were not usually identified as at-risk on both informants’ reports. Moreover, ASD symptoms, broader autism phenotype symptoms, parent mental health concerns, and social support from parents were all related to differences in at-risk classification between parent- and sibling self-report. CONCLUSIONS AND IMPLICATIONS: This paper highlights the necessity of multi-informant reporting when considering TD sibling psychological functioning. WHAT THIS PAPER ADDS: This study helps to address gaps in the literature on assessment of emotional and behavioral functioning of TD siblings of youth with ASD. The results highlight the importance of utilizing both parent- and self-report when identifying TD siblings at-risk for maladjustment. Although few siblings were considered at-risk, those who were identified were not usually identified as such on both informants’ reports, and a variety of sibling- and parent-factors were associated with differences in at-risk classification. Thus, inclusion and examination of both parent- and self-report of TD sibling psychological functioning is vital for accurately identifying numbers of TD siblings at-risk of maladjustment.
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15. Rubenstein E, Edmondson Pretzel R, Windham GC, Schieve LA, Wiggins LD, DiGuiseppi C, Olshan AF, Howard AG, Pence BW, Young L, Daniels J. {{The Broader Autism Phenotype in Mothers is Associated with Increased Discordance Between Maternal-Reported and Clinician-Observed Instruments that Measure Child Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Jul 26)
Autism spectrum disorder (ASD) diagnosis relies on parent-reported and clinician-observed instruments. Sometimes, results between these instruments disagree. The broader autism phenotype (BAP) in parent-reporters may be associated with discordance. Study to Explore Early Development data (N = 712) were used to address whether mothers with BAP and children with ASD or non-ASD developmental disabilities were more likely than mothers without BAP to ‘over-‘ or ‘under-report’ child ASD on ASD screeners or interviews compared with clinician observation or overall impression. Maternal BAP was associated with a child meeting thresholds on a maternal-reported screener or maternal interview when clinician ASD instruments or impressions did not (risk ratios: 1.30 to 2.85). Evidence suggests acknowledging and accounting for reporting discordances may be important when diagnosing ASD.
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16. Sheppard KW, Boone KM, Gracious B, Klebanoff MA, Rogers LK, Rausch J, Bartlett C, Coury DL, Keim SA. {{Effect of Omega-3 and -6 Supplementation on Language in Preterm Toddlers Exhibiting Autism Spectrum Disorder Symptoms}}. {J Autism Dev Disord};2017 (Jul 26)
Delayed language development may be an early indicator of autism spectrum disorder (ASD). Early intervention is critical for children with ASD, and the present study presents pilot data on a clinical trial of omega-3 and -6 fatty acid supplementation and language development, a secondary trial outcome, in children at risk for ASD. We randomized 31 children to receive an omega-3 and -6 supplement or a placebo for 3 months, and measured their language abilities at baseline and after supplementation. Gesture use, but not word production, increased for children in the treatment group more than children in the placebo group. These results suggest possible effectiveness of omega-3 and -6 supplementation for language development in children at risk for ASD.
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17. Yerys BE, Herrington JD, Satterthwaite TD, Guy L, Schultz RT, Bassett DS. {{Globally weaker and topologically different: resting-state connectivity in youth with autism}}. {Mol Autism};2017;8:39.
BACKGROUND: There is a lack of agreement about functional connectivity differences in individuals with autism spectrum disorder (ASD). Studies using absolute strength have found reduced connectivity, while those using relative strength–a measure of system topology–reveal mostly enhanced connectivity. We hypothesized that mixed findings may be driven by the metric of functional connectivity. METHODS: Resting-state echo planar 3 T functional magnetic resonance imaging scans were acquired on a Siemens Verio Scanner from 6 to 17-year-old youth with ASD (n = 81) and a matched typically developing control group (n = 82). All functional time series data were preprocessed using a confound regression procedure that has been previously validated in large-scale developmental datasets. It has also been shown to be highly effective at reducing the influence of motion artifact on connectivity data. We extracted time series data from a 333-node parcellation scheme, which was previously mapped to 13 functional systems. A Pearson’s correlation was calculated and transformed to Fisher’s z between every pair of nodes to create a weighted 333 x 333 adjacency matrix. Mean absolute functional connectivity strength was the mean Fisher’s z of the matrix. Relative functional connectivity was corrected for individual differences in mean absolute functional connectivity (i.e., each connection in the matrix was divided by their mean z), and functional connectivity was evaluated within and across each of the functional networks in the parcellation scheme. RESULTS: Absolute functional connectivity strength was lower in ASD, and lower functional connectivity was correlated with greater ASD symptom severity. Relative functional connectivity was higher for the ASD group in the ventral attention and retrosplenial-temporal systems, with lower cross-system functional connectivity between the ventral attention and somatomotor-mouth systems. Functional connectivity within the ventral attention and retro-splenial systems correlated significantly with ASD symptom severity. CONCLUSIONS: Within a context of globally weaker functional connectivity, youth with ASD have an atypical topology of brain systems that support social perception and communication. This study clarifies the mixed results reported previously and demonstrates that the functional connectivity metric influences the observed direction of functional connectivity differences for individuals with ASD.
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18. Zhang W, Groen W, Mennes M, Greven C, Buitelaar J, Rommelse N. {{Revisiting subcortical brain volume correlates of autism in the ABIDE dataset: effects of age and sex}}. {Psychol Med};2017 (Jul 26):1-15.
BACKGROUND: Autism spectrum disorders (ASD) are characterized by substantial clinical, etiological and neurobiological heterogeneity. Despite this heterogeneity, previous imaging studies have highlighted the role of specific cortical and subcortical structures in ASD and have forwarded the notion of an ASD specific neuroanatomy in which abnormalities in brain structures are present that can be used for diagnostic classification approaches. METHOD: A large (N = 859, 6-27 years, IQ 70-130) multi-center structural magnetic resonance imaging dataset was examined to specifically test ASD diagnostic effects regarding (sub)cortical volumes. RESULTS: Despite the large sample size, we found virtually no main effects of ASD diagnosis. Yet, several significant two- and three-way interaction effects of diagnosis by age by gender were found. CONCLUSION: The neuroanatomy of ASD does not exist, but is highly age and gender dependent. Implications for approaches of stratification of ASD into more homogeneous subtypes are discussed.
