Pubmed du 06/02/19

mercredi 6 février 2019

1. Alnazly EK, Abojedi A. Psychological distress and perceived burden in caregivers of persons with autism spectrum disorder. Perspectives in psychiatric care. 2019.

PURPOSE : To investigate psychological distress among parents of children with autism spectrum disorder and the associated sociodemographic factors influencing parents’ distress. DESIGN AND METHODS : A cross-sectional design with a sample of 123 Jordanian parents providing care to children with autism spectrum disorder was used. A sociodemographic questionnaire, the Oberst Caregiving Burden Scale, the Bakas Caregiving Outcomes Scale, and the Hospital Anxiety and Depression Scale were utilized for data collection. FINDINGS : Parents reported moderate levels of burden, negative life changes, and borderline depression and anxiety. The perceived burden related to caregiving task difficulty positively correlated with that related to time spent on tasks and negatively correlated with caregivers’ caregiving-related outcomes. The perceived burden of caregiving tasks was negatively correlated with depression and anxiety and anxiety levels were positively correlated with depression (P < 0.001). PRACTICE IMPLICATION : Healthcare providers, advanced practice nurses, and policy makers should be aware of the burden, anxiety, and depression experienced by caregivers of children with autism spectrum disorder.

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2. Anderson J, Hirose S. Gastroschisis and Autism-Dual Canaries in the Californian Coalmine-Reply. JAMA surgery. 2019.

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3. Arastoo AA, Khojastehkia H, Rahimi Z, Khafaie MA, Hosseini SA, Mansouri MT, Yosefyshad S, Abshirini M, Noshin K, Cheraghi M. Correction to : Evaluation of serum 25-Hydroxy vitamin D levels in children with autism Spectrum disorder. Italian journal of pediatrics. 2019 ; 45(1) : 22.

The original article [1] contained an error in author Mohammad Taghi Mansouri’s name.

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4. Baribeau DA, Dupuis A, Paton TA, Hammill C, Scherer SW, Schachar RJ, Arnold PD, Szatmari P, Nicolson R, Georgiades S, Crosbie J, Brian J, Iaboni A, Kushki A, Lerch JP, Anagnostou E. Structural neuroimaging correlates of social deficits are similar in autism spectrum disorder and attention-deficit/hyperactivity disorder : analysis from the POND Network. Translational psychiatry. 2019 ; 9(1) : 72.

Autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and obsessive-compulsive disorder (OCD) have been associated with difficulties recognizing and responding to social cues. Neuroimaging studies have begun to map the social brain ; however, the specific neural substrates contributing to social deficits in neurodevelopmental disorders remain unclear. Three hundred and twelve children underwent structural magnetic resonance imaging of the brain (controls = 32, OCD = 44, ADHD = 77, ASD = 159 ; mean age = 11). Their social deficits were quantified on the Social Communication Questionnaire (SCQ) and the Reading the Mind in the Eyes Test (RMET). Multivariable regression models were used to examine the structural neuroimaging correlates of social deficits, with both a region of interest and a whole-brain vertex-wise approach. For the region of interest analysis, social brain regions were grouped into three networks : (1) lateral mentalization (e.g., temporal-parietal junction), (2) frontal cognitive (e.g., orbitofrontal cortex), and (3) subcortical affective (e.g., limbic system) regions. Overall, social communication deficits on the SCQ were associated with thinner cortices in the left lateral regions and the right insula, and decreased volume in the ventral striatum, across diagnostic groups (p = 0.006 to <0.0001). Smaller subcortical volumes were associated with more severe social deficits on the SCQ in ASD and ADHD, and less severe deficits in OCD. On the RMET, larger amygdala/hippocampal volumes were associated with fewer deficits across groups. Overall, patterns of associations were similar in ASD and ADHD, supporting a common underlying biology and the blurring of the diagnostic boundaries between these disorders.

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5. Bruno V, Fox SH. Tremor-Predominant Fragile X-Associated Tremor/Ataxia Syndrome in a Female. Movement disorders clinical practice. 2015 ; 2(1) : 45-6.

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6. Coleman DM, Adams JB, Anderson AL, Frye RE. Rating of the Effectiveness of 26 Psychiatric and Seizure Medications for Autism Spectrum Disorder : Results of a National Survey. J Child Adolesc Psychopharmacol. 2019.

OBJECTIVE : The objective of this study was to provide an evaluation of the benefits and adverse effects (AEs) of psychiatric and seizure medications commonly used for individuals with autism spectrum disorder (ASD). METHODS : As part of the National Survey on Treatment Effectiveness for Autism, we report ratings of 26 psychiatric and seizure medications by 505 participants. Each medication was rated with a standardized scale for overall benefits, overall AEs, and specific symptoms affected. The frequency of use and net perceived benefit (overall benefit minus overall AE) are reported. RESULTS : Most medications were rated as having a slightly greater benefit than AE. Six medications (lamotrigine, oxcarbazepine, clonidine, guanfacine, buspirone, and sertraline) had benefit ratings that were more than twice their adverse rating. Conversely, some medications had slightly negative net benefit ratings (worse AEs than benefits on average), including Adderall, Paroxetine, Quetiapine, Olanzapine, and Topiramate. However, there were wide variations in individual ratings of benefit and AEs, suggesting that clinical response to medications was highly variable, so these scores simply represent averages. A ranking of the top medications (those with the highest net perceived benefit) for each of 18 different symptoms is provided, which may provide some clinical guidance as to which medications may be most worth considering for a given symptom. A comparison of the survey results with the results of clinical trials shows generally good agreement in terms of medication benefits with some differences ; in some cases the differences are because the clinical trials did not assess all of the symptoms assessed by this survey. CONCLUSIONS : It is hoped that physicians and their patients will find the survey results useful in selecting the most promising medications for a given symptom, and also for monitoring for likely benefits and AEs, especially for medications for which few or no studies have been carried out in ASD populations.

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7. Crisp SJ, Meyer E, Gregory A, Archer H, Hayflick S, Kurian MA, de Silva R. WDR45 Mutation in Atypical Rett Syndrome with Brain Iron Accumulation. Movement disorders clinical practice. 2015 ; 2(1) : 81-3.

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8. Haartsen R, Jones EJH, Orekhova EV, Charman T, Johnson MH. Functional EEG connectivity in infants associates with later restricted and repetitive behaviours in autism ; a replication study. Translational psychiatry. 2019 ; 9(1) : 66.

We conducted a replication study of our prior report that increased alpha EEG connectivity at 14-months associates with later autism spectrum disorder (ASD) diagnosis, and dimensional variation in restricted interests/repetitive behaviours. 143 infants at high and low familial risk for ASD watched dynamic videos of spinning toys and women singing nursery rhymes while high-density EEG was recorded. Alpha functional connectivity (7-8 Hz) was calculated using the debiased weighted phase lag index. The final sample with clean data included low-risk infants (N = 20), and high-risk infants who at 36 months showed either typical development (N = 47), atypical development (N = 21), or met criteria for ASD (N = 13). While we did not replicate the finding that global EEG connectivity associated with ASD diagnosis, we did replicate the association between higher functional connectivity at 14 months and greater severity of restricted and repetitive behaviours at 36 months in infants who met criteria for ASD. We further showed that this association is strongest for the circumscribed interests subdomain. We propose that structural and/or functional abnormalities in frontal-striatal circuits underlie the observed association. This is the first replicated infant neural predictor of dimensional variation in later ASD symptoms.

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9. Hampson DR, Hooper AWM, Niibori Y. The Application of Adeno-Associated Viral Vector Gene Therapy to the Treatment of Fragile X Syndrome. Brain Sci. 2019 ; 9(2).

Viral vector-mediated gene therapy has grown by leaps and bounds over the past several years. Although the reasons for this progress are varied, a deeper understanding of the basic biology of the viruses, the identification of new and improved versions of viral vectors, and simply the vast experience gained by extensive testing in both animal models of disease and in clinical trials, have been key factors. Several studies have investigated the efficacy of adeno-associated viral (AAV) vectors in the mouse model of fragile X syndrome where AAVs have been used to express fragile X mental retardation protein (FMRP), which is missing or highly reduced in the disorder. These studies have demonstrated a range of efficacies in different tests from full correction, to partial rescue, to no effect. Here we provide a backdrop of recent advances in AAV gene therapy as applied to central nervous system disorders, outline the salient features of the fragile X studies, and discuss several key issues for moving forward. Collectively, the findings to date from the mouse studies on fragile X syndrome, and data from clinical trials testing AAVs in other neurological conditions, indicate that AAV-mediated gene therapy could be a viable strategy for treating fragile X syndrome.

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10. Hampton LH, Harty M, Fuller EA, Kaiser AP. Enhanced milieu teaching for children with autism spectrum disorder in South Africa. International journal of speech-language pathology. 2019 : 1-11.

PURPOSE : Efficient and effective interventions are required to meet the communication needs of children with autism spectrum disorders (ASDs). However, most children with ASD living in South Africa do not receive individualised interventions. METHOD : This multiple baseline study examined the effects of therapist-implemented enhanced milieu teaching (EMT) on the diversity and frequency of spoken language of three children with ASD in South Africa. RESULT : A moderate functional relation was demonstrated between the introduction of EMT and increases in (1) the number of different words and (2) the number of spontaneous utterances used by each participant. Some evidence of generalisation to novel partners and contexts was observed. CONCLUSION : Results indicated that EMT may be effective for improving communication in South African children with ASD. Implications for clinical practice and cultural and linguistic adaptations are discussed.

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11. Jacob S, Wolff JJ, Steinbach MS, Doyle CB, Kumar V, Elison JT. Neurodevelopmental heterogeneity and computational approaches for understanding autism. Translational psychiatry. 2019 ; 9(1) : 63.

In recent years, the emerging field of computational psychiatry has impelled the use of machine learning models as a means to further understand the pathogenesis of multiple clinical disorders. In this paper, we discuss how autism spectrum disorder (ASD) was and continues to be diagnosed in the context of its complex neurodevelopmental heterogeneity. We review machine learning approaches to streamline ASD’s diagnostic methods, to discern similarities and differences from comorbid diagnoses, and to follow developmentally variable outcomes. Both supervised machine learning models for classification outcome and unsupervised approaches to identify new dimensions and subgroups are discussed. We provide an illustrative example of how computational analytic methods and a longitudinal design can improve our inferential ability to detect early dysfunctional behaviors that may or may not reach threshold levels for formal diagnoses. Specifically, an unsupervised machine learning approach of anomaly detection is used to illustrate how community samples may be utilized to investigate early autism risk, multidimensional features, and outcome variables. Because ASD symptoms and challenges are not static within individuals across development, computational approaches present a promising method to elucidate subgroups of etiological contributions to phenotype, alternative developmental courses, interactions with biomedical comorbidities, and to predict potential responses to therapeutic interventions.

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12. Kim G, Carrico C, Ivey C, Wunsch PB. Impact of sensory adapted dental environment on children with developmental disabilities. Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry. 2019.

AIMS : This was a pilot study assessing the impact of a sensory adapted dental environment (SADE) on children with developmental disabilities (DD) receiving routine dental care. METHODS : A crossover study of 22 children with DD, aged 6 through 21, was conducted at a University Pediatric Dental clinic. Each participant was randomized to a sequence of two dental cleanings on a 3- to 4-month recall schedule, one with a regular dental environment (RDE) and one with SADE. Outcomes included physiological measures (heart rate and oxygen saturation) and cooperation (Frankl scores). RESULTS : Study subjects completed 36 visits. None of the physiological measures differed at either time point between the two treatment settings. The Frankl scores were significantly higher with SADE setting than RDE (P = 0.0368). Forty-six percent of parents strongly agreed that they would prefer the SADE for their child’s next visit. CONCLUSION : SADE may be associated with improved behavior in children with DD.

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13. Reece AS, Hulse GK. Gastroschisis and Autism-Dual Canaries in the Californian Coalmine. JAMA surgery. 2019.

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14. Watanabe T, Rees G, Masuda N. Atypical intrinsic neural timescale in autism. eLife. 2019 ; 8.

How long neural information is stored in a local brain area reflects functions of that region and is often estimated by the magnitude of the autocorrelation of intrinsic neural signals in the area. Here, we investigated such intrinsic neural timescales in high-functioning adults with autism and examined whether local brain dynamics reflected their atypical behaviours. By analysing resting-state fMRI data, we identified shorter neural timescales in the sensory/visual cortices and a longer timescale in the right caudate in autism. The shorter intrinsic timescales in the sensory/visual areas were correlated with the severity of autism, whereas the longer timescale in the caudate was associated with cognitive rigidity. These observations were confirmed from neurodevelopmental perspectives and replicated in two independent cross-sectional datasets. Moreover, the intrinsic timescale was correlated with local grey matter volume. This study shows that functional and structural atypicality in local brain areas is linked to higher-order cognitive symptoms in autism.

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