1. Astala L, Roos M, Harmoinen M, Suominen T. {{Staff experiences of appreciative management in the institutional care of people with intellectual and developmental disabilities – a cross-sectional study}}. {Scand J Caring Sci};2017 (Feb 03)
PURPOSE/DESIGN: This cross-sectional descriptive study describes staff experiences of appreciative management. METHODS: Data were collected by way of e-survey from staff (n = 87) working in the institutional care of people with intellectual and developmental disabilities. The Appreciative Management Scale (AMS 1.0) was used and data were analysed by statistical methods. FINDINGS: Overall, respondents experienced appreciative management as being well implemented, with equality as the best implemented dimension and systematic management the worst. The promotion of well-being at work was associated with age. Appreciation staff received from management had a positive correlation with systematic management, equality, appreciation of know-how and the promotion of well-being at work. CONCLUSIONS: The knowledge of weak systematic management in this study may be utilised in developing management strategies. The managers should use the concept of appreciative management to help young and less experienced nurses to increase their competency and willingness to work in this field.
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2. Baker EK, Richdale AL. {{Examining the Behavioural Sleep-Wake Rhythm in Adults with Autism Spectrum Disorder and No Comorbid Intellectual Disability}}. {J Autism Dev Disord};2017 (Feb 03)
This study aimed to examine the behavioural sleep-wake rhythm in 36 adults with autism spectrum disorder (ASD) and to determine the prevalence of circadian sleep-wake rhythm disorders compared to age- and sex-matched controls. Participants completed an online questionnaire battery, a 14-day sleep-wake diary and 14-day actigraphy assessment. The results indicated that a higher proportion of adults with ASD met criteria for a circadian rhythm sleep-wake disorder compared to control adults. In particular, delayed sleep-wake phase disorder was particularly common in adults with ASD. Overall the findings suggest that individuals with ASD have sleep patterns that may be associated with circadian rhythm disturbance; however factors such as employment status and co-morbid anxiety and depression appear to influence their sleep patterns.
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3. Barbosa MR, Fernandes FD. {{Remote follow-up to speech-language intervention for children with Autism Spectrum Disorders (ASD): parents’ feedback regarding structured activities}}. {Codas};2017 (Feb 06);29(2):e20160119.
Purpose: This paper aims to present the first descriptions of experiences of parents and caretakers of children with Autism Spectrum Disorders (ASD) enrolled as mediators in a structured program of speech-language intervention with remote follow-up. Methods: Research with focus on speech-language intervention for children with ASD was carried out with remote follow-up. Forty parents were instructed to perform daily activities focused on communication and interaction with their children, at home, for a period of six weeks. Parents and caretakers were questioned about the experience and by means of a structured questionnaire. Results: Only 40% of the parents/caretakers conducted the activities proposed every day. Difficulties were reported by 60% of the parents/caretakers. Behavioral problems were also reported as reasons for the difficulties to conduct the activities proposed. Conclusion: the importance of parents who provide detailed information about the child’s development, discuss doubts and exchange experiences for the development of intervention programs that include families.
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4. Breen J, Hare DJ. {{The nature and prevalence of catatonic symptoms in young people with autism}}. {J Intellect Disabil Res};2017 (Feb 01)
BACKGROUND: A proportion of young people with autism are reported to show catatonic-like symptoms in adolescence. The aetiology and prevalence of such presentations is unknown but include a set of behaviours that can best be described as attenuated. METHOD: The current study empirically investigated the presence and nature of such attenuated behaviours in children and adolescents with autism using a newly developed 34-item third party report measure, the Attenuated Behaviour Questionnaire. Caregivers or parents of young people with autism reported on the presentation of symptoms via the online completion of the Attenuated Behaviour Questionnaire and two established clinical measures of repetitive behaviour and depression. RESULTS: Initial results indicate that the Attenuated Behaviour Questionnaire is a workable clinical measure in this population with a degree of discriminant validity with regard to catatonia. Attenuated behaviour indicative of catatonia was relatively common in young people with autism with up to 20.2% having an existing diagnosis of catatonia and evidence of a relationship between attenuated behaviours and measures of depression and repetitive and restricted behaviours. CONCLUSION: Catatonic symptoms are more prevalent in young people with autism than previously thought, and the Attenuated Behaviour Questionnaire has potential as a clinical and research tool.
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5. Campbell K, Carpenter KL, Espinosa S, Hashemi J, Qiu Q, Tepper M, Calderbank R, Sapiro G, Egger HL, Baker JP, Dawson G. {{Use of a Digital Modified Checklist for Autism in Toddlers – Revised with Follow-up to Improve Quality of Screening for Autism}}. {J Pediatr};2017 (Feb 01)
OBJECTIVES: To assess changes in quality of care for children at risk for autism spectrum disorders (ASD) due to process improvement and implementation of a digital screening form. STUDY DESIGN: The process of screening for ASD was studied in an academic primary care pediatrics clinic before and after implementation of a digital version of the Modified Checklist for Autism in Toddlers – Revised with Follow-up with automated risk assessment. Quality metrics included accuracy of documentation of screening results and appropriate action for positive screens (secondary screening or referral). Participating physicians completed pre- and postintervention surveys to measure changes in attitudes toward feasibility and value of screening for ASD. Evidence of change was evaluated with statistical process control charts and chi2 tests. RESULTS: Accurate documentation in the electronic health record of screening results increased from 54% to 92% (38% increase, 95% CI 14%-64%) and appropriate action for children screening positive increased from 25% to 85% (60% increase, 95% CI 35%-85%). A total of 90% of participating physicians agreed that the transition to a digital screening form improved their clinical assessment of autism risk. CONCLUSIONS: Implementation of a tablet-based digital version of the Modified Checklist for Autism in Toddlers – Revised with Follow-up led to improved quality of care for children at risk for ASD and increased acceptability of screening for ASD. Continued efforts towards improving the process of screening for ASD could facilitate rapid, early diagnosis of ASD and advance the accuracy of studies of the impact of screening.
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6. Carper RA, Treiber JM, White NS, Kohli JS, Muller RA. {{Restriction Spectrum Imaging As a Potential Measure of Cortical Neurite Density in Autism}}. {Front Neurosci};2016;10:610.
Autism postmortem studies have shown various cytoarchitectural anomalies in cortical and limbic areas including increased cell packing density, laminar disorganization, and narrowed minicolumns. However, there is little evidence on dendritic and axonal organization in ASD. Recent imaging techniques have the potential for non-invasive, in vivo studies of small-scale structure in the human brain, including gray matter. Here, Restriction Spectrum Imaging (RSI), a multi-shell diffusion-weighted imaging technique, was used to examine gray matter microstructure in 24 children with ASD (5 female) and 20 matched typically developing (TD) participants (2 female), ages 7-17 years. RSI extends the spherical deconvolution model to multiple length scales to characterize neurite density (ND) and organization. Measures were examined in 48 cortical regions of interest per hemisphere. To our knowledge, this is the first time that a multi-compartmental diffusion model has been applied to cortical gray matter in ASD. The ND measure detected robust age effects showing a significant positive relationship to age in all lobes except left temporal when groups were combined. Results were also suggestive of group differences (ASD
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7. Downs J, Leonard H, Wong K, Newton N, Hill K. {{Quantification of walking-based physical activity and sedentary time in individuals with Rett syndrome}}. {Dev Med Child Neurol};2017 (Feb 06)
AIM: To quantify, in individuals with Rett syndrome with the capacity to walk, walking-based activity and sedentary time, and to analyse the influences of age, walking ability, scoliosis, and the severity of epilepsy. METHOD: Sixty-four participants with a mean age of 17 years and 7 months (standard deviation [SD] 9y) were recruited from the Australian Rett Syndrome Database for this cross-sectional study. Each participant wore a StepWatch Activity Monitor for at least 4 days. Linear regression models were used to assess relationships between daily step count and the proportion of waking hours spent in sedentary time with the covariates of age group, walking ability, presence of scoliosis, and frequency of seizures. RESULTS: On average, 62% (SD 19%) of waking hours were sedentary and 20% (SD 8%) was at cadences lower than or equal to 20 steps in a minute. The median daily steps count was 5093 (interquartile range 2026-8602). Compared with females younger than 13 years of age and accounting for the effects of covariates, adults took fewer steps, and both adolescents and adults had more sedentary time. INTERPRETATION: Adolescents and adults led the least active lives and would appear to be in particular need of interventions aiming to optimize slow walking-based physical activity and reduce sedentary time.
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8. Elsheikh S, Kuusikko-Gauffin S, Mattila ML, Jussila K, Ebeling H, Loukusa S, Omar M, Riad G, Rautio A, Moilanen I. {{Neuropsychological performance of Finnish and Egyptian children with autism spectrum disorder}}. {Int J Circumpolar Health};2016 (Jan);75(1):29681.
Background Previous studies investigating neuropsychological functioning of children with autism spectrum disorder (ASD) have only analysed certain abilities, such as executive functions or language. While comprehensive assessment of the neuropsychological profile of children with ASD has been the focus of recent research, most of the published evidence originates from single centres. Though studies on differences in neuropsychological features of children with ASD across countries are essential for identifying different phenotypes of ASD, such studies have not been conducted. Objective Our goal was to assess the neuropsychological abilities of children with ASD in northern Finland and Egypt and to examine the effect of age and intelligence quotient (IQ) on these abilities. Design Selected verbal and non-verbal subtests of the neuropsychological assessment NEPSY were used to examine 88 children with ASD in northern Finland (n=54, age M=11.2, IQ M=117.1) and Egypt (n=34, age M=8.4, IQ M=96.6). Results Finnish ASD children scored significantly higher than their Egyptian counterparts on the verbal NEPSY subtests Comprehension of Instructions (p<0.001), Comprehension of Sentence Structure (p<0.01), Narrative Memory (p<0.001) and Verbal Fluency (p<0.05) and on the non-verbal NEPSY subtest Design Fluency (p<0.01). Finnish and Egyptian ASD children did not differ on the subtests Memory for Faces, Object Recognition and Object Memory. In addition, we found that age and verbal IQ can have significant influence on neuropsychological performance. Conclusions Our results suggest a possible cultural impact on verbal and visuomotor fluency. However, the ability to recognize and memorize objects and the disability to remember faces appear to be typical for ASD and culturally independent. Lien vers le texte intégral (Open Access ou abonnement)
9. Frundt O, Grashorn W, Schottle D, Peiker I, David N, Engel AK, Forkmann K, Wrobel N, Munchau A, Bingel U. {{Quantitative Sensory Testing in adults with Autism Spectrum Disorders}}. {J Autism Dev Disord};2017 (Feb 03)
Altered sensory perception has been found in patients with autism spectrum disorders (ASD) and might be related to aberrant sensory perception thresholds. We used the well-established, standardized Quantitative sensory testing (QST) protocol of the German Research Network on Neuropathic Pain to investigate 13 somatosensory parameters including thermal and tactile detection and pain thresholds in 13 ASD adults and 13 matched healthy controls with normal IQ values. There were no group differences between somatosensory detection and pain thresholds. Two ASD patients showed paradoxical heat sensations and another two ASD subjects presented dynamic mechanical allodynia; somatosensory features that were absent in controls. These findings suggest that central mechanisms during complex stimulus integration rather than peripheral dysfunctions probably determine somatosensory alterations in ASD.
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10. Garg S, Brooks A, Burns A, Burkitt-Wright E, Kerr B, Huson S, Emsley R, Green J. {{Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/MAPK pathway}}. {Dev Med Child Neurol};2017 (Feb 04)
AIM: To investigate the cognitive and behavioural phenotype in rare disorders of the Ras/MAPK pathway, namely Noonan, cardiofaciocutaneous (CFC), and Costello syndromes, particularly prevalence of autism spectrum disorder (ASD) and attention-deficit-hyperactivity disorder (ADHD). METHOD: Fifty children were recruited over 10 months through the regional genetics service and advertisements. A range of parent, child, and observational measures were administered including Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Scale. RESULTS: Using the Collaborative Programme for Excellence in Autism criteria, 12 out of 40 children with Noonan syndrome (30%) showed ASD, and 12 out of 40 (30%) with partial ASD features and 16 out of 40 (40%) showed non-ASD. The Noonan syndrome ASD group showed male dominance in a ratio of 5:1. In the CFC group, eight out of nine children met the criteria for ASD, with equal sex distribution. Additionally 19 out of 40 (48%) of the Noonan syndrome group and eight out of nine (88.9%) of the CFC group scored met clinical criteria for ADHD. Only one child was in the Costello syndrome group. INTERPRETATION: This is the first systematic study to suggest a high prevalence of ASD in Noonan and CFC syndromes, and thus offers crucial evidence to support the importance of the Ras/MAPK pathway in the aetiology of ASD. Limitations include the inevitable possibility of a sampling bias in a rare disorder study of this kind.
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11. Gu F, Chauhan V, Chauhan A. {{Monoamine oxidase-A and B activities in the cerebellum and frontal cortex of children and young adults with autism}}. {J Neurosci Res};2017 (Feb 02)
Monoamine oxidases (MAOs) catalyze the metabolism of monoamine neurotransmitters, such as serotonin, dopamine, and norepinephrine, and are key regulators for brain function. In this study, we analyzed the activities of MAO-A and MAO-B in the cerebellum and frontal cortex from subjects with autism and age-matched control subjects. In the cerebellum, MAO-A activity in subjects with autism (aged 4-38 years) was significantly lower by 20.6% than in controls. When the subjects were divided into children (aged 4-12 years) and young adults (aged 13-38 years) subgroups, a significant decrease by 27.8% in the MAO-A activity was observed only in children with autism compared with controls. When the 95% confidence interval of the control group was taken as a reference range, reduced activity of MAO-A was observed in 70% of children with autism. In the frontal cortex, MAO-A activity in children with autism was also lower by 30% than in the control group, and impaired activity of MAO-A was observed in 55.6% of children with autism, although the difference between the autism and control groups was not significant when all subjects were considered. On the contrary, there was no significant difference in MAO-B activity in both the cerebellum and frontal cortex between children with autism and the control group as well as in adults. These results suggest impaired MAO-A activity in the brain of subjects with autism, especially in children with autism. Decreased activity of MAOs may lead to increased levels of monoaminergic neurotransmitters, such as serotonin, which have been suggested to have a critical role in autism. (c) 2017 Wiley Periodicals, Inc.
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12. Ingersoll BR, Wainer AL, Berger NI, Walton KM. {{Efficacy of low intensity, therapist-implemented Project ImPACT for increasing social communication skills in young children with ASD}}. {Dev Neurorehabil};2017 (Feb 02):1-9.
Project ImPACT is a Naturalistic Developmental Behavioral Intervention (NDBI) for young children with ASD. Preliminary research supports its feasibility and efficacy as a parent-mediated intervention; however, its efficacy as a low-intensity, therapist-implemented intervention is unclear. A single-case, multiple-baseline design evaluated the effect of 2 h per week of therapist-implemented Project ImPACT on social engagement, language, and play in nine children with ASD. Language and play skills were targeted separately for five children and together for four children. Children increased their rates of social engagement and language when language or play was the sole target and when language and play were targeted together; however, gains in play skills were evident only when they were targeted separately. This study provides support for the efficacy of the Project ImPACT when implemented by therapists at a low intensity and suggests the way in which skills are targeted can affect child learning.
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13. Jack A, Keifer CM, Pelphrey KA. {{Cerebellar contributions to biological motion perception in autism and typical development}}. {Hum Brain Mapp};2017 (Feb 02)
Growing evidence suggests that posterior cerebellar lobe contributes to social perception in healthy adults. However, they know little about how this process varies across age and with development. Using cross-sectional fMRI data, they examined cerebellar response to biological (BIO) versus scrambled (SCRAM) motion within typically developing (TD) and autism spectrum disorder (ASD) samples (age 4-30 years old), characterizing cerebellar response and BIO > SCRAM-selective effective connectivity, as well as associations with age and social ability. TD individuals recruited regions throughout cerebellar posterior lobe during BIO > SCRAM, especially bilateral lobule VI, and demonstrated connectivity with right posterior superior temporal sulcus (RpSTS) in left VI, Crus I/II, and VIIIb. ASD individuals showed BIO > SCRAM activity in left VI and left Crus I/II, and bilateral connectivity with RpSTS in Crus I/II and VIIIb/IX. No between-group differences emerged in well-matched subsamples. Among TD individuals, older age predicted greater BIO > SCRAM response in left VIIb and left VIIIa/b, but reduced connectivity between RpSTS and widespread regions of the right cerebellum. In ASD, older age predicted greater response in left Crus I and bilateral Crus II, but decreased effective connectivity with RpSTS in bilateral Crus I/II. In ASD, increased BIO > SCRAM signal in left VI/Crus I and right Crus II, VIIb, and dentate predicted lower social symptomaticity; increased effective connectivity with RpSTS in right Crus I/II and bilateral VI and I-V predicted greater symptomaticity. These data suggest that posterior cerebellum contributes to the neurodevelopment of social perception in both basic and clinical populations. Hum Brain Mapp, 2017. (c) 2017 Wiley Periodicals, Inc.
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14. Jamison JM, Fourie E, Siper PM, Trelles MP, George-Jones J, Buxbaum Grice A, Krata J, Holl E, Shaoul J, Hernandez B, Mitchell L, McKay MM, Buxbaum JD, Kolevzon A. {{Examining the Efficacy of a Family Peer Advocate Model for Black and Hispanic Caregivers of Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Feb 06)
Autism spectrum disorder (ASD) affects individuals across all racial and ethnic groups, yet rates of diagnosis are disproportionately higher for Black and Hispanic children. Caregivers of children with ASD experience significant stressors, which have been associated with parental strain, inadequate utilization of mental health services and lower quality of life. The family peer advocate (FPA) model has been utilized across service delivery systems to provide family-to-family support, facilitate engagement, and increase access to care. This study used a randomized controlled design to examine the efficacy of FPAs in a racially and ethnically diverse sample. Results demonstrate significantly increased knowledge of ASD and reduced levels of stress for caregivers who received the FPA intervention as compared to treatment as usual.
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15. Karaminis T, Neil L, Manning C, Turi M, Fiorentini C, Burr D, Pellicano E. {{Ensemble perception of emotions in autistic and typical children and adolescents}}. {Dev Cogn Neurosci};2017 (Jan 16);24:51-62.
Ensemble perception, the ability to assess automatically the summary of large amounts of information presented in visual scenes, is available early in typical development. This ability might be compromised in autistic children, who are thought to present limitations in maintaining summary statistics representations for the recent history of sensory input. Here we examined ensemble perception of facial emotional expressions in 35 autistic children, 30 age- and ability-matched typical children and 25 typical adults. Participants received three tasks: a) an ‘ensemble’ emotion discrimination task; b) a baseline (single-face) emotion discrimination task; and c) a facial expression identification task. Children performed worse than adults on all three tasks. Unexpectedly, autistic and typical children were, on average, indistinguishable in their precision and accuracy on all three tasks. Computational modelling suggested that, on average, autistic and typical children used ensemble-encoding strategies to a similar extent; but ensemble perception was related to non-verbal reasoning abilities in autistic but not in typical children. Eye-movement data also showed no group differences in the way children attended to the stimuli. Our combined findings suggest that the abilities of autistic and typical children for ensemble perception of emotions are comparable on average.
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16. Kincaid DL, Doris M, Shannon C, Mulholland C. {{What is the prevalence of autism spectrum disorder and ASD traits in psychosis? A systematic review}}. {Psychiatry Res};2017 (Jan 07);250:99-105.
There is increasing evidence to suggest both a symptomatic overlap and a clinically significant degree of co-occurrence between Autism Spectrum Disorders (ASD) and psychotic disorders such as schizophrenia but the nature of such relationships remain unclear. We reviewed the literature reporting prevalence rates of Autistic-like Traits (ALTs) and ASD in populations with a diagnosis of schizophrenia or other psychotic disorder. A search of three large databases was conducted and from this seven studies met the criteria for inclusion. The point prevalence rates for ALTs ranged from 9.6% to 61%, whilst the prevalence rates for diagnosed ASD ranged from <1% to 52% across outpatient and inpatient populations. This suggests that prevalence rates of ALTs and ASD in psychosis populations are much higher than in the general population. This has important implications regarding future research, and clinical implications in terms of ensuring that patients receive the most appropriate diagnosis and treatment. Lien vers le texte intégral (Open Access ou abonnement)
17. Laycock R, Chan D, Crewther SG. {{Attention Orienting in Response to Non-conscious Hierarchical Arrows: Individuals with Higher Autistic Traits Differ in Their Global/Local Bias}}. {Front Psychol};2017;8:23.
One aspect of the social communication impairments that characterize autism spectrum disorder (ASD) include reduced use of often subtle non-verbal social cues. People with ASD, and those with self-reported sub-threshold autistic traits, also show impairments in rapid visual processing of stimuli unrelated to social or emotional properties. Hence, this study sought to investigate whether perceptually non-conscious visual processing is related to autistic traits. A neurotypical sample of thirty young adults completed the Subthreshold Autism Trait Questionnaire and a Posner-like attention cueing task. Continuous Flash Suppression (CFS) was employed to render incongruous hierarchical arrow cues perceptually invisible prior to consciously presented targets. This was achieved via a 10 Hz masking stimulus presented to the dominant eye that suppressed information presented to the non-dominant eye. Non-conscious arrows consisted of local arrow elements pointing in one direction, and forming a global arrow shape pointing in the opposite direction. On each trial, the cue provided either a valid or invalid cue for the spatial location of the subsequent target, depending on which level (global or local) received privileged attention. A significant autism-trait group by global cue validity interaction indicated a difference in the extent of non-conscious local/global cueing between groups. Simple effect analyses revealed that whilst participants with lower autistic traits showed a global arrow cueing effect, those with higher autistic traits demonstrated a small local arrow cueing effect. These results suggest that non-conscious processing biases in local/global attention may be related to individual differences in autistic traits.
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18. Lee AS, Azmitia EC, Whitaker-Azmitia PM. {{Developmental microglial priming in postmortem autism spectrum disorder temporal cortex}}. {Brain Behav Immun};2017 (Feb 01)
Microglia can shift into different complex morphologies depending on the microenvironment of the central nervous system (CNS). The distinct morphologies correlate with specific functions and can indicate the pathophysiological state of the CNS. Previous postmortem studies of autism spectrum disorder (ASD) showed neuroinflammation in ASD indicated by increased microglial density. These changes in the microglia density can be accompanied by changes in microglia phenotype but the individual contribution of different microglia phenotypes to the pathophysiology of ASD remains unclear. Here, we used an unbiased stereological approach to quantify six structurally and functionally distinct microglia phenotypes in postmortem human temporal cortex, which were immuno-stained with Iba1. The total density of all microglia phenotypes did not differ between ASD donors and typically developing individual donors. However, there was a significant decrease in ramified microglia in both gray matter and white matter of ASD, and a significant increase in primed microglia in gray matter of ASD compared to typically developing individuals. This increase in primed microglia showed a positive correlation with donor age in both gray matter and white of ASD, but not in typically developing individuals. Our results provide evidence of a shift in microglial phenotype that may indicate impaired synaptic plasticity and a chronic vulnerability to exaggerated immune responses.
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19. Malachowska-Sobieska M, Barczyk-Pawelec K, Marcmiszyn Z, Demczuk-Wlodarczyk E, Skolimowska B, Mackow A, Miler A. {{Analysis of the Structure of the Torso in the Frontal Plane in Girls with Rett Syndrome Taking into Account Their Functional Status}}. {Ortop Traumatol Rehabil};2016 (Mar 23);18(2):155-163.
BACKGROUND: Rett syndrome is a rare developmental disorder with a genetic background, and scoliosis is one of its many complications. The aim of the present study was to assess the structure of the torso in the frontal plane in RTT. It was assumed that asymmetry of the structure of the torso in the frontal plane would be smaller in girls who are able to maintain a vertical body position. MATERIAL AND METHODS: The study included 14 girls previously diagnosed with RTT aged between 3 and 15 years, who were divided into 2 groups. Group 1 comprised 5 girls who were not able to maintain a vertical position. Group 2 comprised 9 girls who were able to maintain a vertical position. Body mass and weight were measured with an electronic scales and a height measuring device. The Body Mass Index was calculated. Photogrammetry was used to assess the structure of the torso in the frontal plane. The study results were subjected to a statistical analysis involving the calculation of the arithmetic mean (x), standard deviation (sd), coefficient of variation (v%) and significance of differences (p). RESULTS: Left-sided asymmetries were most common in both groups. All angles and linear values were higher in Group 1. 80% of the subjects in Group 1 demonstrated significant asymmetry of the pelvic tilt angle (PTA). There were no statistically significant differences between Group 1 and 2 regarding all study indices. CONCLUSIONS: 1. The study demonstrated that asymmetry of the torso in the frontal plane was common in the girls with RTT. 2. Torso asymmetry was more pronounced in girls with a poorer functional status. 3. Analysis of BMI values demonstrated a poor nutritional status of the girls.
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20. Marchant S, Gillani R, Serwint J. {{Case 1: Leg and Hip Pain in an 8-year-old Boy with Autism}}. {Pediatr Rev};2017 (Feb);38(2):93-94.
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21. Martin GE, Barstein J, Hornickel J, Matherly S, Durante G, Losh M. {{Signaling of noncomprehension in communication breakdowns in fragile X syndrome, Down syndrome, and autism spectrum disorder}}. {J Commun Disord};2017 (Jan 26);65:22-34.
The ability to indicate a failure to understand a message is a critical pragmatic (social) language skill for managing communication breakdowns and supporting successful communicative exchanges. The current study examined the ability to signal noncomprehension across different types of confusing message conditions in children and adolescents with fragile X syndrome (FXS), Down syndrome (DS), autism spectrum disorder (ASD), and typical development (TD). Controlling for nonverbal mental age and receptive vocabulary skills, youth with comorbid FXS and ASD and those with DS were less likely than TD controls to signal noncomprehension of confusing messages. Youth with FXS without ASD and those with idiopathic ASD did not differ from controls. No sex differences were detected in any group. Findings contribute to current knowledge of pragmatic profiles in different forms of genetically-based neurodevelopmental disorders associated with intellectual disability, and the role of sex in the expression of such profiles. LEARNING OUTCOMES: Upon completion of this article, readers will have learned about: (1) the social-communicative profiles of youth with FXS, DS, and ASD, (2) the importance of signaling noncomprehension in response to a confusing message, and (3) the similarities and differences in noncomprehension signaling in youth with FXS (with and without ASD), DS, idiopathic ASD, and TD.
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22. McIntyre NS, Solari EJ, Grimm RP, L EL, J EG, Mundy PC. {{A Comprehensive Examination of Reading Heterogeneity in Students with High Functioning Autism: Distinct Reading Profiles and Their Relation to Autism Symptom Severity}}. {J Autism Dev Disord};2017 (Feb 03)
The goal of this study was to identify unique profiles of readers in a sample of 8-16 year olds with higher functioning autism spectrum disorders (HFASD) and examine the profiles in relation to ASD symptom severity. Eighty-one students were assessed utilizing a comprehensive reading battery that included basic word reading, language, and comprehension. Using Latent Profile Analysis, four empirically distinct profiles of readers emerged. Next, using the Autism Diagnostic Observation Schedule, Second Edition (Lord et al., Autism diagnostic observation schedule, 2nd edn, Western Psychological Services, Torrance, CA, 2012), analyses were conducted to determine if significant differences existed between profiles as a result of ASD symptomatology. Findings demonstrate the heterogeneous nature of reading profiles in students with HFASD and significant differences between the reading profiles and ASD symptom severity.
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23. Mucerino S, Di Salle A, Alessio N, Margarucci S, Nicolai R, Melone MA, Galderisi U, Peluso G. {{Alterations in the carnitine cycle in a mouse model of Rett syndrome}}. {Sci Rep};2017 (Feb 02);7:41824.
Rett syndrome (RTT) is a neurodevelopmental disease that leads to intellectual deficit, motor disability, epilepsy and increased risk of sudden death. Although in up to 95% of cases this disease is caused by de novo loss-of-function mutations in the X-linked methyl-CpG binding protein 2 gene, it is a multisystem disease associated also with mitochondrial metabolic imbalance. In addition, the presence of long QT intervals (LQT) on the patients’ electrocardiograms has been associated with the development of ventricular tachyarrhythmias and sudden death. In the attempt to shed light on the mechanism underlying heart failure in RTT, we investigated the contribution of the carnitine cycle to the onset of mitochondrial dysfunction in the cardiac tissues of two subgroups of RTT mice, namely Mecp2+/- NQTc and Mecp2+/- LQTc mice, that have a normal and an LQT interval, respectively. We found that carnitine palmitoyltransferase 1 A/B and carnitine acylcarnitine translocase were significantly upregulated at mRNA and protein level in the heart of Mecp2+/- mice. Moreover, the carnitine system was imbalanced in Mecp2+/- LQTc mice due to decreased carnitine acylcarnitine transferase expression. By causing accumulation of intramitochondrial acylcarnitines, this imbalance exacerbated incomplete fatty acid oxidation, which, in turn, could contribute to mitochondrial overload and sudden death.
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24. O’Byrne JJ, Sweeney M, Donnelly DE, Lambert DM, Beattie ED, Gervin CM, Barton DE, Lynch SA. {{Incidence of Fragile X syndrome in Ireland}}. {Am J Med Genet A};2017 (Feb 03)
Described as the commonest single gene cause of learning disability internationally, the incidence of Fragile X syndrome (FXS) has never previously been determined in Ireland. The aim of this work was to determine the observed incidence of FXS in the island of Ireland; the Republic of Ireland (ROI) and Northern Ireland (NI) separately and combined. Ascertainment was achieved for a cross-sectional study by a retrospective, clinical and laboratory database review of positive FXS cases, born in either ROI or NI, between years 2000-2009 inclusive. The observed incidence of FXS per 10,000 live births in the island of Ireland in males was 0.94 (95%CI: 0.75-1.13) or approximately 1:10,600 and in females was 0.23 (95%CI: 0.14-0.32) or approximately 1:43,000. Comparable testing rates for FXS are present in ROI and NI, with on average 1.48% (1.30% in ROI, 1.96% in NI) of live male births and 0.4% (0.35% in ROI, 0.55% in NI) of live female births undergoing analysis which is comparable to other centres internationally. This study demonstrates the observed incidence of FXS in the island of Ireland is (i) approximately half the estimated worldwide incidence in males and is not explained by low levels of testing, and (ii) approximately one quarter the estimated worldwide incidence in females which may be explained by low levels of testing. (c) 2017 Wiley Periodicals, Inc.
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25. Olde Dubbelink LM, Geurts HM. {{Planning Skills in Autism Spectrum Disorder Across the Lifespan: A Meta-analysis and Meta-regression}}. {J Autism Dev Disord};2017 (Feb 03)
Individuals with an autism spectrum disorder (ASD) are thought to encounter planning difficulties, but experimental research regarding the mastery of planning in ASD is inconsistent. By means of a meta-analysis of 50 planning studies with a combined sample size of 1755 individuals with and 1642 without ASD, we aim to determine whether planning difficulties do exist and which factors contribute to this. Planning problems were evident in individuals with ASD (Hedges’g = 0.52), even when taking publication bias into account (Hedges’g = 0.37). Neither age, nor task-type, nor IQ reduced the observed heterogeneity, suggesting that these were not crucial moderators within the current meta-analysis. However, while we showed that ASD individuals encounter planning difficulties, the bias towards publishing positive findings restricts strong conclusions regarding the role of potential moderators.
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26. Rastello S, Rousselon V, Blanchon YC, Charles R. {{Qui traite les pathologies somatiques et les troubles associés des enfants autistes ?}}. {Sante Publique};2016 (Dec 19);28(6):759-768.
This study highlights the conditions that limit access to primary care: the severity of autistic disorders, the implicit sidestepping of tasks by physicians, exhaustion of families who fail to coordinate the various types of care and tense relationships between professionals..
27. Ruskin DN, Murphy MI, Slade SL, Masino SA. {{Ketogenic diet improves behaviors in a maternal immune activation model of autism spectrum disorder}}. {PLoS One};2017;12(2):e0171643.
Prenatal factors influence autism spectrum disorder (ASD) incidence in children and can increase ASD symptoms in offspring of animal models. These may include maternal immune activation (MIA) due to viral or bacterial infection during the first trimesters. Unfortunately, regardless of ASD etiology, existing drugs are poorly effective against core symptoms. For nearly a century a ketogenic diet (KD) has been used to treat seizures, and recent insights into mechanisms of ASD and a growing recognition that immune/inflammatory conditions exacerbate ASD risk has increased interest in KD as a treatment for ASD. Here we studied the effects of KD on core ASD symptoms in offspring exposed to MIA. To produce MIA, pregnant C57Bl/6 mice were injected with the viral mimic polyinosinic-polycytidylic acid; after weaning offspring were fed KD or control diet for three weeks. Consistent with an ASD phenotype of a higher incidence in males, control diet-fed MIA male offspring were not social and exhibited high levels of repetitive self-directed behaviors; female offspring were unaffected. However, KD feeding partially or completely reversed all MIA-induced behavioral abnormalities in males; it had no effect on behavior in females. KD-induced metabolic changes of reduced blood glucose and elevated blood ketones were quantified in offspring of both sexes. Prior work from our laboratory and others demonstrate KDs improve relevant behaviors in several ASD models, and here we demonstrate clear benefits of KD in the MIA model of ASD. Together these studies suggest a broad utility for metabolic therapy in improving core ASD symptoms, and support further research to develop and apply ketogenic and/or metabolic strategies in patients with ASD.
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28. Tordjman S, Cohen D, Coulon N, Anderson GM, Botbol M, Roubertoux PL. {{Reframing autism as a behavioral syndrome and not a specific mental disorder: Perspectives from a literature review}}. {Neurosci Biobehav Rev};2017 (Jan 30)
Clinical and molecular genetics have advanced current knowledge on genetic disorders associated with autism. A review of diverse genetic disorders associated with autism is presented and for the first time discussed extensively with regard to possible common underlying mechanisms leading to a similar cognitive-behavioral phenotype of autism. The possible role of interactions between genetic and environmental factors, including epigenetic mechanisms, is in particular examined. Finally, the pertinence of distinguishing non-syndromic autism (isolated autism) from syndromic autism (autism associated with genetic disorders) will be reconsidered. Given the high genetic and etiological heterogeneity of autism, autism can be viewed as a behavioral syndrome related to known genetic disorders (syndromic autism) or currently unknown disorders (apparent non-syndromic autism), rather than a specific categorical mental disorder. It highlights the need to study autism phenotype and developmental trajectory through a multidimensional, non-categorical approach with multivariate analyses within autism spectrum disorder but also across mental disorders, and to conduct systematically clinical genetic examination searching for genetic disorders in all individuals (children but also adults) with autism.
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29. Vyas K, Jameel L, Bellesi G, Crawford S, Channon S. {{Derailing the trolley: Everyday utilitarian judgments in groups high versus low in psychopathic traits or autistic traits}}. {Psychiatry Res};2017 (Jan 22);250:84-91.
Moral decision-making has been linked with empathy. The present study built on previous work examining the relationship between psychopathy or autism spectrum disorder (ASD), two conditions putatively associated with deficits in empathy, and utilitarian decision-making. Students scoring high on self-report measures of psychopathic or autistic traits were presented with a novel task, ‘Utilitarian Judgments’, and compared to low trait control groups. This study replicated the classic finding that more direct links between the agents’ actions and harm to victims mitigated utilitarian decision-making. It also found that participants made more utilitarian decisions when outcomes involved extreme physical versus everyday social harm. Enhanced utilitarian decision-making was not observed in those scoring high for either psychopathic or autistic traits, although both high trait groups reported that they would experience less discomfort than their low trait counterparts. Verbal reasoning differences were observed for the high autistic trait group, but not the high psychopathic trait group. The dilemmas that have been typically used to explore utilitarian decision-making describe extreme, hypothetical events involving physical or serious emotional harm. The present findings suggest that this might limit the generalisability of the existing literature and over-emphasise the tendency to make utilitarian decisions when considering everyday dilemmas.
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30. Wu H, Wang X, Gao J, Liang S, Hao Y, Sun C, Xia W, Cao Y, Wu L. {{Fingolimod (FTY720) attenuates social deficits, learning and memory impairments, neuronal loss and neuroinflammation in the rat model of autism}}. {Life Sci};2017 (Feb 01)
AIMS: To investigate the effect of FTY720 on the valproic acid (VPA) rat model of autism. MAIN METHODS: As an animal model of autism, we used intraperitoneal injection of VPA on embryonic day 12.5 in Wistar rats. The pups were given FTY720 orally at doses of 0.25, 0.5 and 1mg/kg daily from postnatal day 15 to 35. Social behavior, spatial learning and memory were assessed at the end of FTY720 treatment. The histological change, oxidative stress, neuroinflammatory responses, and apoptosis-related proteins in the hippocampus were evaluated. KEY FINDINGS: FTY720 (1mg/kg) administration to VPA-exposed rats (1) improved social behavior, spatial learning and memory impairment; (2) resulted in a reduction in neuronal loss and apoptosis of pyramidal cells in hippocampal CA1 regions; (3)inhibited activation of microglial cells, in turn lowering the level of pro-inflammatory cytokines interleukin-1beta (IL-1beta) and IL-6 in the hippocampus; (4) changed Malondialdehyde (MDA) levels, Glutathione (GSH) levels, superoxide dismutase (SOD) activity and Glutathione Peroxidase (GSH-Px) activity in the hippocampus; (6) inhibited the elevated Bax and caspase-3 protein levels and enhanced the relative expression level of Bcl-2 in the hippocampus; and (7) increased phospho-Ca2+/calmodulin-dependent protein kinase II (p-CaMKII), phospho-cAMP-response element binding protein (p-CREB) and Brain Derived Neurotrophic Factor (BDNF) protein expression in the hippocampus. SIGNIFICANCE: FTY720 rescues social deficit, spatial learning and memory impairment in VPA-exposed rats. FTY720 exerts both a direct protection for neurons and an indirect modulation of inflammation-mediated neuron loss as a possible mechanism of neuroprotection.
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31. Zachariah SM, Oommen SP, Padankatti CS, Grace H, Glory L. {{Dysmorphism in Non-Syndromic Autism: A Cross-Sectional Study}}. {Indian Pediatr};2017 (Feb 02)
OBJECTIVE: To determine the effect of association of dysembryogenesis (manifested by presence of dysmorphic markers) on the developmental profile of autistic children. METHODS: 26 autistic children were classified into complex autism (if they had specific dysmorphic markers) or essential autism (in the absence of dysmorphic markers) using the Miles Autism Dysmorphology Measure (ADM). The developmental abilities (Griffith’s Mental Development Scales) and the clinical severity (Childhood Autism Rating Scale) of both groups were compared. The prevalence of dysmorphic markers was also determined in 140 non-autistic controls. RESULTS: Children with complex autism had poorer development (General Quotient 29.4 vs 34.0, P=0.06) and earlier onset of autistic symptoms (18 vs 24 mo, P=0.05). Dysmorphic markers were significantly more in autistic children compared to normal children (27% vs 10%, P=0.002). CONCLUSIONS: Dysembryogenesis may contribute to the clinical heterogeneity of autistic children.
32. Zhu Y, Zhu X, Zhang H, Gao W, Shen D, Wu G. {{Reveal Consistent Spatial-Temporal Patterns from Dynamic Functional Connectivity for Autism Spectrum Disorder Identification}}. {Med Image Comput Comput Assist Interv};2016 (Oct);9900:106-114.
Functional magnetic resonance imaging (fMRI) provides a non-invasive way to investigate brain activity. Recently, convergent evidence shows that the correlations of spontaneous fluctuations between two distinct brain regions dynamically change even in resting state, due to the condition-dependent nature of brain activity. Thus, quantifying the patterns of functional connectivity (FC) in a short time period and changes of FC over time can potentially provide valuable insight into both individual-based diagnosis and group comparison. In light of this, we propose a novel computational method to robustly estimate both static and dynamic spatial-temporal connectivity patterns from the observed noisy signals of individual subject. We achieve this goal in two folds: (1) Construct static functional connectivity across brain regions. Due to low signal-to-noise ratio induced by possible non-neural noise, the estimated FC strength is very sensitive and it is hard to define a good threshold to distinguish between real and spurious connections. To alleviate this issue, we propose to optimize FC which is in consensus with not only the low level region-to-region signal correlations but also the similarity of high level principal connection patterns learned from the estimated link-to-link connections. Since brain network is intrinsically sparse, we also encourage sparsity during FC optimization. (2) Characterize dynamic functional connectivity along time. It is hard to synchronize the estimated dynamic FC patterns and the real cognitive state changes, even using learning-based methods. To address these limitations, we further extend above FC optimization method into the spatial-temporal domain by arranging the FC estimations along a set of overlapped sliding windows into a tensor structure as the window slides. Then we employ low rank constraint in the temporal domain assuming there are likely a small number of discrete states that the brain transverses during a short period of time. We applied the learned spatial-temporal patterns from fMRI images to identify autism subjects. Promising classification results have been achieved, suggesting high discrimination power and great potentials in computer assisted diagnosis.
