1. Billeci L, Tonacci A, Tartarisco G, Narzisi A, Di Palma S, Corda D, Baldus G, Cruciani F, Anzalone SM, Calderoni S, Pioggia G, Muratori F. {{An Integrated Approach for the Monitoring of Brain and Autonomic Response of Children with Autism Spectrum Disorders during Treatment by Wearable Technologies}}. {Front Neurosci};2016;10:276.
Autism Spectrum Disorders (ASD) are associated with physiological abnormalities, which are likely to contribute to the core symptoms of the condition. Wearable technologies can provide data in a semi-naturalistic setting, overcoming the limitations given by the constrained situations in which physiological signals are usually acquired. In this study an integrated system based on wearable technologies for the acquisition and analysis of neurophysiological and autonomic parameters during treatment is proposed and an application on five children with ASD is presented. Signals were acquired during a therapeutic session based on an imitation protocol in ASD children. Data were analyzed with the aim of extracting quantitative EEG (QEEG) features from EEG signals as well as heart rate and heart rate variability (HRV) from ECG. The system allowed evidencing changes in neurophysiological and autonomic response from the state of disengagement to the state of engagement of the children, evidencing a cognitive involvement in the children in the tasks proposed. The high grade of acceptability of the monitoring platform is promising for further development and implementation of the tool. In particular if the results of this feasibility study would be confirmed in a larger sample of subjects, the system proposed could be adopted in more naturalistic paradigms that allow real world stimuli to be incorporated into EEG/psychophysiological studies for the monitoring of the effect of the treatment and for the implementation of more individualized therapeutic programs.
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2. Bonete S, Molinero C, Mata S, Calero MD, Gomez-Perez MM. {{[Efectividad de un programa manualizado de intervencion en habilidades de resolucion de problemas para ninos con trastorno del espectro autista (TEA)]}}. {Psicothema};2016 (Aug);28(3):304-310.
BACKGROUND: Children with Autism spectrum disorders (ASD) frequently present a deficit in interpersonal and social problem solving skills. The Interpersonal Problem-Solving Skills Programme for Children (SCI-Children) comprises 10 weekly, one hour sessions working on interpersonal abilities from a mediation strategy for training purposes. METHOD: The first study explores the effectiveness of training through pre- and post-treatment evaluations of a sample of 22 children with ASD (7-13 years of age). The second study replicates the programme with 15 children who were assessed three times (three months before the programme starts, at the beginning of the training and at the end of it). RESULTS: In the first study, significant differences were found in outcome measures (a parent-report subscale of a socialisation measure and child performance on one subscale and total scores of an interpersonal problem-solving skills task). Results in the second study showed no significant changes in absence of the treatment during the waiting period and significant changes after the treatment in the socialisation measure. CONCLUSIONS: These findings suggest that the SCI-Children program causes positive impact on the participants. Further evaluation is warranted.
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3. Boshoff K, Gibbs D, Phillips RL, Wiles L, Porter L. {{Parents’ voices: ‘why and how we advocate’. A meta-synthesis of parents’ experiences of advocating for their child with autism spectrum disorder}}. {Child Care Health Dev};2016 (Jul 22)
Parenting a child with autism spectrum disorder (ASD) can be stressful, and accessing services can add to this stress. Self-efficacy, agency and advocacy are important for parents when accessing and using services. To develop insight into parental advocacy, a meta-synthesis was undertaken to consolidate the literature focussing on parents’ experiences of advocating for their child with ASD. A qualitative meta-synthesis was conducted. Fifteen databases were systematically searched by using key terms related to ASD, children, parents/carers, advocacy and qualitative studies. Twenty-four studies were identified and appraised using an adapted version of the Critical Appraisal Skills Programme tool. Data were synthesized into themes through the steps of review, meta-aggregation, integration and interpretation. Two overarching concepts emerged, illustrating both the challenging nature of advocacy and the associated personal and societal benefits. These two concepts are supported by eight themes: a life-long, all-encompassing challenge; advocacy as a parental coping strategy; advocacy involving working to create a future; balancing roles and needs; isolation versus support; personal impacts of advocacy; benefits of advocacy; and the barriers to advocacy. The experience of advocacy for parents with a child with ASD is complex and intensive, presenting both personal and societal benefits, as well as challenges for parents. In supporting individuals with ASD and family well-being, service providers need to have an understanding of the advocating role of parents and ensure that opportunities exist for their voices to be heard during service delivery.
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4. Choi CH, Schoenfeld BP, Bell AJ, Hinchey J, Rosenfelt C, Gertner MJ, Campbell SR, Emerson D, Hinchey P, Kollaros M, Ferrick NJ, Chambers DB, Langer S, Sust S, Malik A, Terlizzi AM, Liebelt DA, Ferreiro D, Sharma A, Koenigsberg E, Choi RJ, Louneva N, Arnold SE, Featherstone RE, Siegel SJ, Zukin RS, McDonald TV, Bolduc FV, Jongens TA, McBride SM. {{Multiple Drug Treatments That Increase cAMP Signaling Restore Long-Term Memory and Aberrant Signaling in Fragile X Syndrome Models}}. {Front Behav Neurosci};2016;10:136.
Fragile X is the most common monogenic disorder associated with intellectual disability (ID) and autism spectrum disorders (ASD). Additionally, many patients are afflicted with executive dysfunction, ADHD, seizure disorder and sleep disturbances. Fragile X is caused by loss of FMRP expression, which is encoded by the FMR1 gene. Both the fly and mouse models of fragile X are also based on having no functional protein expression of their respective FMR1 homologs. The fly model displays well defined cognitive impairments and structural brain defects and the mouse model, although having subtle behavioral defects, has robust electrophysiological phenotypes and provides a tool to do extensive biochemical analysis of select brain regions. Decreased cAMP signaling has been observed in samples from the fly and mouse models of fragile X as well as in samples derived from human patients. Indeed, we have previously demonstrated that strategies that increase cAMP signaling can rescue short term memory in the fly model and restore DHPG induced mGluR mediated long term depression (LTD) in the hippocampus to proper levels in the mouse model (McBride et al., 2005; Choi et al., 2011, 2015). Here, we demonstrate that the same three strategies used previously with the potential to be used clinically, lithium treatment, PDE-4 inhibitor treatment or mGluR antagonist treatment can rescue long term memory in the fly model and alter the cAMP signaling pathway in the hippocampus of the mouse model.
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5. Corbett BA, Muscatello RA, Blain SD. {{Impact of Sensory Sensitivity on Physiological Stress Response and Novel Peer Interaction in Children with and without Autism Spectrum Disorder}}. {Front Neurosci};2016;10:278.
BACKGROUND: For many children with Autism Spectrum Disorder (ASD), social interactions can be stressful. Previous research shows that youth with ASD exhibit greater physiological stress response during peer interaction, compared to typically developing (TD) peers. Heightened sensory sensitivity may contribute to maladaptive patterns of stress and anxiety. The current study investigated between-group differences in stress response to peer interaction, as well as the role of sensory sensitivity. METHODS: Participants included 80 children (40 ASD) between 8 and 12 years. Children participated in the peer interaction paradigm (PIP), an ecologically valid protocol that simulates real-world social interaction. Salivary cortisol was collected before and after the 20 min PIP. Parents completed questionnaires pertaining to child stress (Stress Survey Schedule) and sensory sensitivity (Short Sensory Profile). Statistical analyses included t-tests and ANCOVA models to examine between-group differences in cortisol and play; Pearson correlations to determine relations between cortisol, play, and questionnaire scores; and moderation analyses to investigate interactions among variables. RESULTS: Controlling for baseline cortisol values, children with ASD showed significantly higher cortisol levels than TD peers, in response to the PIP [F (1, 77) = 5.77, p = 0.02]. Cortisol during play was negatively correlated with scores on the SSP (r = -0.242, p = 0.03), and positively correlated with SSS (r = 0.273, p = 0.02) indicating that higher cortisol was associated with greater sensory sensitivity (lower SSP reflects more impairment) and enhanced stress in various contexts (higher SSS reflects more stress). Furthermore, diagnosis was a significant moderator of the relation between cortisol and SSP, at multiple time points during the PIP (p < 0.05). CONCLUSIONS: The current study extends previous findings by showing that higher physiological arousal during play is associated with heightened sensory sensitivity and a pattern of increased stress in various contexts. RESULTS are discussed in a broader context, emphasizing the need to examine relationships between social, behavioral, and physiological profiles in ASD to enhance understanding and improve treatments aimed at ameliorating stress and sensory dysfunction, while enhancing social skills. Lien vers le texte intégral (Open Access ou abonnement)
6. Crea K, Dissanayake C, Hudry K. {{Proband Mental Health Difficulties and Parental Stress Predict Mental Health in Toddlers at High-Risk for Autism Spectrum Disorders}}. {J Autism Dev Disord};2016 (Jul 21)
Family-related predictors of mental health problems were investigated among 30 toddlers at familial high-risk for autism spectrum disorders (ASD) and 28 controls followed from age 2- to 3-years. Parents completed the self-report Depression Anxiety Stress Scales and the parent-report Behavior Assessment System for Children. High-risk toddlers were assessed for ASD at 3-years. Parent stress and proband mental health difficulties predicted concurrent toddler mental health difficulties at 2-years, but only baseline proband internalising problems continued to predict toddler internalising problems at 3-years; high-risk status did not confer additional risk. Baseline toddler mental health difficulties robustly predicted later difficulties, while high-risk status and diagnostic outcome conferred no additional risk. A family systems perspective may be useful for understanding toddler mental health difficulties.
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7. Crespi BJ. {{Autism As a Disorder of High Intelligence}}. {Front Neurosci};2016;10:300.
A suite of recent studies has reported positive genetic correlations between autism risk and measures of mental ability. These findings indicate that alleles for autism overlap broadly with alleles for high intelligence, which appears paradoxical given that autism is characterized, overall, by below-average IQ. This paradox can be resolved under the hypothesis that autism etiology commonly involves enhanced, but imbalanced, components of intelligence. This hypothesis is supported by convergent evidence showing that autism and high IQ share a diverse set of convergent correlates, including large brain size, fast brain growth, increased sensory and visual-spatial abilities, enhanced synaptic functions, increased attentional focus, high socioeconomic status, more deliberative decision-making, profession and occupational interests in engineering and physical sciences, and high levels of positive assortative mating. These findings help to provide an evolutionary basis to understanding autism risk as underlain in part by dysregulation of intelligence, a core human-specific adaptation. In turn, integration of studies on intelligence with studies of autism should provide novel insights into the neurological and genetic causes of high mental abilities, with important implications for cognitive enhancement, artificial intelligence, the relationship of autism with schizophrenia, and the treatment of both autism and intellectual disability.
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8. Duringer J, Fombonne E, Craig M. {{No Association between Mycotoxin Exposure and Autism: A Pilot Case-Control Study in School-Aged Children}}. {Toxins (Basel)};2016;8(7)
Evaluation of environmental risk factors in the development of autism spectrum disorder (ASD) is needed for a more complete understanding of disease etiology and best approaches for prevention, diagnosis, and treatment. A pilot experiment in 54 children (n = 25 ASD, n = 29 controls; aged 12.4 +/- 3.9 years) screened for 87 urinary mycotoxins via liquid chromatography-tandem mass spectrometry to assess current exposure. Zearalenone, zearalenone-4-glucoside, 3-acetyldeoxynivalenol, and altenuene were detected in 9/54 (20%) samples, most near the limit of detection. No mycotoxin/group of mycotoxins was associated with ASD-diagnosed children. To identify potential correlates of mycotoxin presence in urine, we further compared the nine subjects where a urinary mycotoxin was confirmed to the remaining 45 participants and found no difference based on the presence or absence of mycotoxin for age (t-test; p = 0.322), gender (Fisher’s exact test; p = 0.456), exposure or not to selective serotonin reuptake inhibitors (Fisher’s exact test; p = 0.367), or to other medications (Fisher’s exact test; p = 1.00). While no positive association was found, more sophisticated sample preparation techniques and instrumentation, coupled with selectivity for a smaller group of mycotoxins, could improve sensitivity and detection. Further, broadening sampling to in utero (mothers) and newborn-toddler years would cover additional exposure windows.
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9. Mouridsen SE, Rich B, Isager T. {{Diseases of the circulatory system among adult people diagnosed with infantile autism as children: A longitudinal case control study}}. {Res Dev Disabil};2016 (Jul 19);57:193-200.
BACKGROUND: Research dealing with adult people with autism spectrum disorders (ASD) noticeably lags behind studies of children and young individuals with ASD. AIMS: The objective of this study was to compare the prevalence and types of diseases of the circulatory system in a clinical sample of 118 adult people diagnosed with infantile autism (IA) as children with 336 sex and age matched controls from the general population. METHODS AND PROCEDURES: All participants were screened through the nationwide Danish National Hospital Register. The average observation time of both groups was 37.2 years, and mean age at follow-up was 49.6 years. OUTCOMES AND RESULTS: Of the 118 people with IA, 11 (9.3%) were registered with at least one disease of the circulatory system against 54 (16.1%) in the comparison group (p=0.09; OR=0.54; 95% CI 0.3-1.2). Ischemic heart diseases occurred significantly more frequently among people in the comparison group (p=0.02). CONCLUSIONS AND IMPLICATIONS: It is argued that diseases of the circulatory system may be underdiagnosed in people with IA because of the difficulties they face with respect to identifying and communicating symptoms of ill health. Bearing in mind that cardiovascular disease is the primary cause of death in most developed countries, it is suggested that to prevent disease and manage health conditions, health monitoring is essential in adult people with IA.
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10. Neely RJ, Green JL, Sciberras E, Hazell P, Anderson V. {{Relationship Between Executive Functioning and Symptoms of Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder in 6-8 Year Old Children}}. {J Autism Dev Disord};2016 (Jul 21)
This study examined relationships between executive functioning (EF) and ADHD/ASD symptoms in 339 6-8 year-old children to characterise EF profiles associated with ADHD and ADHD + ASD. ADHD status was assessed using screening surveys and diagnostic interviews. ASD symptoms were measured using the Social Communication Questionnaire, and children completed assessments of EF. We found the EF profile of children with ADHD + ASD did not differ from ADHD-alone and that lower-order cognitive skills contributed significantly to EF. Dimensionally, ASD and inattention symptoms were differentially associated with EF, whereas hyperactivity symptoms were unrelated to EF. Differences between categorical and dimensional findings suggest it is important to use both diagnostic and symptom based approaches in clinical settings when assessing these children’s functional abilities.
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11. Retico A, Gori I, Giuliano A, Muratori F, Calderoni S. {{One-Class Support Vector Machines Identify the Language and Default Mode Regions As Common Patterns of Structural Alterations in Young Children with Autism Spectrum Disorders}}. {Front Neurosci};2016;10:306.
The identification of reliable brain endophenotypes of autism spectrum disorders (ASD) has been hampered to date by the heterogeneity in the neuroanatomical abnormalities detected in this condition. To handle the complexity of neuroimaging data and to convert brain images in informative biomarkers of pathology, multivariate analysis techniques based on Support Vector Machines (SVM) have been widely used in several disease conditions. They are usually trained to distinguish patients from healthy control subjects by making a binary classification. Here, we propose the use of the One-Class Classification (OCC) or Data Description method that, in contrast to two-class classification, is based on a description of one class of objects only. This approach, by defining a multivariate normative rule on one class of subjects, allows recognizing examples from a different category as outliers. We applied the OCC to 314 regional features extracted from brain structural Magnetic Resonance Imaging (MRI) scans of young children with ASD (21 males and 20 females) and control subjects (20 males and 20 females), matched on age [range: 22-72 months of age; mean = 49 months] and non-verbal intelligence quotient (NVIQ) [range: 31-123; mean = 73]. We demonstrated that a common pattern of features characterize the ASD population. The OCC SVM trained on the group of ASD subjects showed the following performances in the ASD vs. controls separation: the area under the receiver operating characteristic curve (AUC) was 0.74 for the male and 0.68 for the female population, respectively. Notably, the ASD vs. controls discrimination results were maximized when evaluated on the subsamples of subjects with NVIQ >/= 70, leading to AUC = 0.81 for the male and AUC = 0.72 for the female populations, respectively. Language regions and regions from the default mode network-posterior cingulate cortex, pars opercularis and pars triangularis of the inferior frontal gyrus, and transverse temporal gyrus-contributed most to distinguishing individuals with ASD from controls, arguing for the crucial role of these areas in the ASD pathophysiology. The observed brain patterns associate preschoolers with ASD independently of their age, gender and NVIQ and therefore they are expected to constitute part of the ASD brain endophenotype.
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12. Torres EB, Nguyen J, Mistry S, Whyatt C, Kalampratsidou V, Kolevzon A. {{Characterization of the Statistical Signatures of Micro-Movements Underlying Natural Gait Patterns in Children with Phelan McDermid Syndrome: Towards Precision-Phenotyping of Behavior in ASD}}. {Front Integr Neurosci};2016;10:22.
BACKGROUND: There is a critical need for precision phenotyping across neurodevelopmental disorders, especially in individuals who receive a clinical diagnosis of autism spectrum disorder (ASD). Phelan-McDermid deletion syndrome (PMS) is one such example, as it has a high penetrance of ASD. At present, no biometric characterization of the behavioral phenotype within PMS exists. METHODS: We introduce a data-type and statistical framework that permits the personalized profiling of naturalistic behaviors. Walking patterns were assessed in 30 participants (16 PMS, 3 idiopathic-ASD and 11 age- and sex-matched controls). Each individual’s micro-movement signatures were recorded at 240 Hz. We empirically estimated the parameters of the continuous Gamma family of probability distributions and calculated their ranges. These estimated stochastic signatures were then mapped on the Gamma plane to obtain several statistical indexes for each child. To help visualize complex patterns across the cohort, we introduce new tools that enable the assessment of connectivity and modularity indexes across the peripheral network of rotational joints. RESULTS: Typical walking signatures are absent in all children with PMS as well as in the children with idiopathic-ASD (iASD). Underlying these patterns are atypical leg rotational acceleration signatures that render participants with PMS unstable with rotations that are much faster than controls. The median values of the estimated Gamma parameters serve as a cutoff to automatically separate children with PMS 5-7 years old from adolescents with PMS 12-16 years old, the former displaying more randomness and larger noise. The fluctuations in the arm’s motions during the walking also have atypical statistics that separate males from females in PMS and show higher rates of noise accumulation in idiopathic ASD (iASD) children. Despite high heterogeneity, all iASD children have excess noise, a narrow range of probability-distribution shapes across the body joints and a distinct joint network connectivity pattern. Both PMS and iASD have systemic issues with noise in micro-motions across the body with specific signatures for each child that, as a cohort, selectively deviates from controls. CONCLUSIONS: We provide a new methodology for precision behavioral phenotyping with the potential to use micro-movement output noise as a natural classifier of neurodevelopmental disorders of known etiology. This approach may help us better understand idiopathic neurodevelopmental disorders and personalize the assessments of natural movements in these populations.
