1. {{Developmental disabilities among children younger than 5 years in 195 countries and territories, 1990-2016: a systematic analysis for the Global Burden of Disease Study 2016}}. {Lancet Glob Health};2018 (Aug 29)
BACKGROUND: The Sustainable Development Goals (SDGs) mandate systematic monitoring of the health and wellbeing of all children to achieve optimal early childhood development. However, global epidemiological data on children with developmental disabilities are scarce. The Global Burden of Diseases, Injuries, and Risk Factors Study 2016 provides a comprehensive assessment of prevalence and years lived with disability (YLDs) for development disabilities among children younger than 5 years in 195 countries and territories from 1990 to 2016. METHODS: We estimated prevalence and YLDs for epilepsy, intellectual disability, hearing loss, vision loss, autism spectrum disorder, and attention deficit hyperactivity disorder. YLDs were estimated as the product of the prevalence estimate and the disability weight for each mutually exclusive disorder, corrected for comorbidity. We used DisMod-MR 2.1, a Bayesian meta-regression tool, on a pool of primary data derived from systematic reviews of the literature, health surveys, hospital and claims databases, cohort studies, and disease-specific registries. FINDINGS: Globally, 52.9 million (95% uncertainty interval [UI] 48.7-57.3; or 8.4% [7.7-9.1]) children younger than 5 years (54% males) had developmental disabilities in 2016 compared with 53.0 million (49.0-57.1; or 8.9% [8.2-9.5]) in 1990. About 95% of these children lived in low-income and middle-income countries. YLDs among these children increased from 3.8 million (95% UI 2.8-4.9) in 1990 to 3.9 million (2.9-5.2) in 2016. These disabilities accounted for 13.3% of the 29.3 million YLDs for all health conditions among children younger than 5 years in 2016. Vision loss was the most prevalent disability, followed by hearing loss, intellectual disability, and autism spectrum disorder. However, intellectual disability was the largest contributor to YLDs in both 1990 and 2016. Although the prevalence of developmental disabilities among children younger than 5 years decreased in all countries (except for North America) between 1990 and 2016, the number of children with developmental disabilities increased significantly in sub-Saharan Africa (71.3%) and in North Africa and the Middle East (7.6%). South Asia had the highest prevalence of children with developmental disabilities in 2016 and North America had the lowest. INTERPRETATION: The global burden of developmental disabilities has not significantly improved since 1990, suggesting inadequate global attention on the developmental potential of children who survived childhood as a result of child survival programmes, particularly in sub-Saharan Africa and south Asia. The SDGs provide a framework for policy and action to address the needs of children with or at risk of developmental disabilities, particularly in resource-poor countries. FUNDING: The Bill & Melinda Gates Foundation.
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2. Ahmad SF, Ansari MA, Nadeem A, Bakheet SA, Alshammari MA, Attia SM. {{Neuroprotection by tyrosine kinase inhibitor, tyrphostin AG126, through the suppression of IL-17A, RORgammat, and T-bet signaling, in the BTBR mouse model of autism}}. {Brain Res Bull};2018 (Aug 30)
Autism spectrum disorder (ASD) is an extremely predominant neurodevelopmental disorder expressed as impairment in reciprocal social interaction along with repetitive, restricted, and stereotyped behaviors. The protein tyrosine kinase inhibitor, tyrphostin AG126 (AG126), regulates the expression of several genes that play an important role in the development of neuroinflammatory disorders. Here, we investigate the possible effects of AG126 (5 mg/kg daily through intraperitoneal injection) on self-grooming, marble burying, and hot plate test results in BTBR T + Itpr3tf/J mice (BTBR is a model of autism). We also explore the effects of AG126 administration on IL-17 A, RORgammat, T-bet, and IFN-gamma production in CD4(+) T cells and on CCR6(+) chemokine receptors in splenic cells. We further investigated the effect of AG126 administration on the mRNA and protein expression of IL-17 A, RORgammat, T-bet, IFN-gamma, and NF-kappaB in the brain tissue. Our results demonstrate that treatment of BTBR mice with AG126 reduced repetitive self-grooming scores and lowered hot plate sensitivity potentials. Furthermore, AG126 administration also caused a substantial reduction of IL-17 A, RORgammat, T-bet, and IFN-gamma production in CD4(+) T cells and on CCR6(+) chemokine receptors in splenic cells. BTBR mice treated with AG126 also show decreased mRNA and protein expression levels of IL-17 A, RORgammat, T-bet, IFN-gamma, and NF-kappaB activation in brain tissue. Our results indicate that treating BTBR mice with AG126 leads to protection against neuroimmune dysfunction/dysregulation through the inhibition of cytokines and transcription factor signaling. This mechanism may be useful in the development of future therapies for neuroimmune disorders.
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3. Black MM, Lawn JE. {{Early childhood developmental disabilities-data still needed}}. {Lancet Glob Health};2018 (Aug 29)
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4. Folsom TD, Higgins L, Markowski TW, Griffin TJ, Fatemi SH. {{Quantitative proteomics of forebrain subcellular fractions in fragile X mental retardation 1 knockout mice following acute treatment with 2-Methyl-6-(phenylethynyl)pyridine: Relevance to Developmental Study of Schizophrenia}}. {Synapse};2018 (Sep 3)
The fragile X mental retardation 1 knockout (Fmr1 KO) mouse replicates behavioral deficits associated with autism, fragile X syndrome, and schizophrenia. Less is known whether protein expression changes are consistent with findings in subjects with schizophrenia. In the current study we used liquid chromatography tandem mass spectrometry (LC-MS/MS) proteomics to determine the protein expression of four subcellular fractions in forebrains of Fmr1 KO mice vs. C57BL/6J mice and the effect of a negative allosteric modulator of mGluR5 – 2-Methyl-6-(phenylethynyl)pyridine (MPEP) – on protein expression. Strain- and treatment-specific differential expression of proteins was observed, many of which have previously been observed in brains of subjects with schizophrenia. Western blotting verified the direction and magnitude of change for several proteins in different subcellular fractions as follows: neurofilament light protein (NEFL) and 2′,3′-cyclic-nucleotide 3′-phosphodiesterase (CNP) in the total homogenate; heterogeneous nuclear ribonucleoproteins C1/C2 (HNRNPC) and heterogeneous nuclear ribonucleoprotein D0 (HNRNPD) in the nuclear fraction; excitatory amino acid transporter 2 (EAAT2) and ras-related protein rab 3a (RAB3A) in the synaptic fraction; and ras-related protein rab 35 (RAB35) and neuromodulin (GAP43) in the rough endoplasmic reticulum fraction. Individuals with FXS do not display symptoms of schizophrenia. However, the biomarkers that have been identified suggest that the Fmr1 KO model could potentially be useful in the study of schizophrenia. This article is protected by copyright. All rights reserved.
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5. Gurbuz E, Hanley M, Riby DM. {{University Students with Autism: The Social and Academic Experiences of University in the UK}}. {J Autism Dev Disord};2018 (Sep 1)
The number of university students with autism is increasing, and it is crucial that these students can access adequate support. An online questionnaire was completed by 26 autistic students and 158 non-autistic students enrolled at UK universities to investigate social and academic experiences. Autistic students self-reported significant challenges and more mental health difficulties than non-autistic students. Significant challenges focused on the social components of university life, including social skills, social support opportunities, and levels of ASD awareness from others. Many strengths were also reported regarding academic skills of autistic university students. Importantly, there were more thoughts of withdrawal by the students with autism highlighting the need for support. These data can inform university student support services.
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6. Hergersberg M. {{A fascinating overview of the biology of fragile X syndrome}}. {Eur J Hum Genet};2018 (Sep 3)
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7. Pagnozzi AM, Conti E, Calderoni S, Fripp J, Rose SE. {{A systematic review of structural MRI biomarkers in Autism Spectrum Disorder: A Machine Learning perspective}}. {Int J Dev Neurosci};2018 (Aug 30)
Autism Spectrum Disorder (ASD) affects approximately 1% of the population and leads to impairments in social interaction, communication and restricted, repetitive behaviours. Establishing robust neuroimaging biomarkers of ASD using structural magnetic resonance imaging (MRI) is an important step for diagnosing and tailoring treatment, particularly early in life when interventions can have the greatest effect. However currently, there is mixed findings on the structural brain changes associated with autism. Therefore in this systematic review, recent (post-2007), high-resolution (3 T) MRI studies investigating brain morphology associated with ASD have been collated to identify robust neuroimaging biomarkers of ASD. A systematic search was conducted on databases; PubMed, Web of Science and Scopus, resulting in 123 reviewed articles. Patients with ASD were observed to have increased whole brain volume, particularly under 6 years of age. Other consistent changes observed in ASD patients include increased volume in the frontal and temporal lobes, increased cortical thickness in the frontal lobe, increased surface area and cortical gyrification, and increased cerebrospinal fluid volume, as well as reduced cerebellum volume and reduced corpus callosum volume, compared to typically developing controls. Findings were inconsistent regarding the developmental trajectory of brain volume and cortical thinning with age in ASD, as well as potential volume differences in the white matter, hippocampus, amygdala, thalamus and basal ganglia. To elucidate these inconsistencies, future studies should look towards aggregating MRI data from multiple sites or available repositories to avoid underpowered studies, as well as utilising methods which quantify larger-scale image features to reduce the number of statistical tests performed, and hence risk of false positive findings. Additionally, studies should look to perform a thorough validation strategy, to ensure generalisability of study findings, as well as look to leverage the improved image resolution of 3 T scanning to identify subtle brain changes related to ASD.
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8. Rutz A, Dent KM, Botto LD, Young PC, Carbone PS. {{Brief Report: Pediatrician Perspectives Regarding Genetic Evaluations of Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2018 (Sep 1)
Despite current guidelines, few children with autism spectrum disorder (ASD) receive genetic evaluations. We surveyed Utah pediatricians to characterize the knowledge, beliefs, current practices and perceived barriers of pediatricians regarding genetic evaluation of children with ASD. We found over half lacked knowledge of current guidelines and many held beliefs about genetic evaluation that did not align with guidelines. Barriers were lack of insurance coverage for genetic evaluation/testing and long wait times to see geneticists. Pediatricians with beliefs aligned with guidelines and those aware of the role of genetic counselors were more likely to adhere to guidelines. Efforts to educate pediatricians are needed along with system level solutions regarding availability of geneticists and reimbursement for genetic testing.
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9. Rydzewska E, Hughes-McCormack LA, Gillberg C, Henderson A, MacIntyre C, Rintoul J, Cooper SA. {{Prevalence of long-term health conditions in adults with autism: observational study of a whole country population}}. {BMJ Open};2018 (Sep 1);8(8):e023945.
OBJECTIVES: To investigate the prevalence of comorbid mental health conditions and physical disabilities in a whole country population of adults aged 25+ with and without reported autism. DESIGN: Secondary analysis of Scotland’s Census, 2011 data. Cross-sectional study. SETTING: General population. PARTICIPANTS: 94% of Scotland’s population, including 6649/3 746 584 adults aged 25+ reported to have autism. MAIN OUTCOME MEASURES: Prevalence of six comorbidities: deafness or partial hearing loss, blindness or partial sight loss, intellectual disabilities, mental health conditions, physical disability and other condition; ORs (95% CI) of autism predicting these comorbidities, adjusted for age and gender; and OR for age and gender in predicting comorbidities within the population with reported autism. RESULTS: Comorbidities were common: deafness/hearing loss-17.5%; blindness/sight loss-12.1%; intellectual disabilities-29.4%; mental health conditions-33.0%; physical disability-30.7%; other condition-34.1%. Autism statistically predicted all of the conditions: OR 3.3 (95% CI 3.1 to 3.6) for deafness or partial hearing loss, OR 8.5 (95% CI 7.9 to 9.2) for blindness or partial sight loss, OR 94.6 (95% CI 89.4 to 100.0) for intellectual disabilities, OR 8.6 (95% CI 8.2 to 9.0) for mental health conditions, OR 6.2 (95% CI 5.8 to 6.6) for physical disability and OR 2.6 (95% CI 2.5 to 2.8) for other condition. Contrary to findings within the general population, female gender predicted all conditions within the population with reported autism, including intellectual disabilities (OR=1.4). CONCLUSIONS: Clinicians need heightened awareness of comorbidities in adults with autism to improve detection and suitable care, especially given the added complexity of assessment in this population and the fact that hearing and visual impairments may cause additional difficulties with reciprocal communication which are also a feature of autism; hence posing further challenges in assessment.
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10. Shivers CM, Jackson JB, McGregor CM. {{Functioning Among Typically Developing Siblings of Individuals with Autism Spectrum Disorder: A Meta-Analysis}}. {Clin Child Fam Psychol Rev};2018 (Sep 3)
The literature on typically developing siblings of individuals with autism spectrum disorder (ASD-Sibs) provides inconsistent results, with some studies reporting ASD-Sibs are more likely to have negative outcomes than comparison groups, and others reporting no significant differences. Therefore, the purpose of this study was to meta-analytically aggregate study effect sizes to more accurately calculate the degree to which ASD-Sibs function similarly or differently compared to siblings of people who do not have ASD. Studies were eligible for inclusion if they had a sample of ASD-Sibs older than 5; reported on emotional, psychological, behavioral, or social functioning; and provided information necessary for calculating relevant effect sizes. Results from 69 independent samples indicated that ASD-Sibs have significantly more negative outcomes than comparison groups overall (g = – 0.26); specific areas of functioning in which ASD-Sibs fared worse include internalizing behavior problems, psychological functioning, beliefs, social functioning, and the sibling relationship, but no significant differences in adjustment, attention/hyperactivity, externalizing behavior problems, coping, or family functioning. Noteworthy sub-areas of functioning in which ASD-Sibs also fared worse included beliefs about disability (g = – 0.56), anxiety symptoms (g = – 0.25), and depression symptoms (g = – 0.36). In terms of comparison group, ASD-Sibs had significantly lower functioning than siblings of individuals with other intellectual and developmental disabilities (g = – 0.31), including Down syndrome (g = – 0.40) and siblings of individuals without any disabilities (g = – 0.31). Clinicians and service providers should work to ensure that ASD-Sibs are included in family interventions and support strategies, and researchers should further explore individual differences that may relate to enhanced or impaired functioning in ASD-Sibs.
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11. Siegel M. {{The Severe End of the Spectrum: Insights and Opportunities from the Autism Inpatient Collection (AIC)}}. {J Autism Dev Disord};2018 (Sep 3)
Research on individuals severely affected by autism, including those who are minimally verbal, have intellectual disability or challenging behaviors, has become less common. The Autism Inpatient Collection (AIC) was initiated so data on this group is available to the research community. Ten studies utilizing phenotypic data from the first 350 AIC participants are presented. Greater autism severity, sleep disturbance, and psychiatric disorders are risks for hospitalization; fluently verbal youth experience more depression and oppositional symptoms; lower adaptive/coping skills are associated with increased problem behaviors; lower IQ is a risk for SIB; post-traumatic and suicidal symptoms are common; and challenging behaviors improve with specialized inpatient treatment. A new measure of emotion regulation and prescribing practices are described and future research discussed.
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12. Vargason T, McGuinness DL, Hahn J. {{Gastrointestinal Symptoms and Oral Antibiotic Use in Children with Autism Spectrum Disorder: Retrospective Analysis of a Privately Insured U.S. Population}}. {J Autism Dev Disord};2018 (Sep 3)
A retrospective analysis of administrative claims data from a large U.S. health insurer was performed to study a potential association between oral antibiotic use during early childhood and occurrence of later gastrointestinal (GI) symptoms in children with autism spectrum disorder (ASD). Among 3253 children with ASD, 37.0% had a GI-related diagnosis during the last 2 years of their 5-year health coverage enrollment period, compared to 20.0% of 278,370 children from the general population without an ASD diagnosis. Greater numbers of oral antibiotic fills during the first 3 years of enrollment were found to significantly increase the hazard rate of having a later GI-related diagnosis (adjusted hazard ratio 1.48; 95% confidence interval 1.34, 1.63) in children both with and without ASD.
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13. Wieckowski AT, Swain DM, Abbott AL, White SW. {{Task Dependency When Evaluating Association Between Facial Emotion Recognition and Facial Emotion Expression in Children with ASD}}. {J Autism Dev Disord};2018 (Sep 1)
The impact of facial emotion recognition (FER) deficits on facial emotion expression (FEE) during interaction with a novel computerized system was investigated in children with ASD (n = 20), in comparison to typically developing (TD) peers (n = 20). Although there was not clear evidence of impaired FEE, children with ASD showed more atypical FEE. In children with ASD, better FER predicted better FEE when the participants were asked to express a labeled emotion (t(18) = – 2.75, p = .01, d = 1.24). The stronger relationship between FER and FEE in children with ASD, relative to controls, suggests that intervention targeting social communication deficits might have maximal effect when both processes are considered.
