1. Bangerter A, Ness S, Aman MG, Esbensen AJ, Goodwin MS, Dawson G, Hendren R, Leventhal B, Khan A, Opler M, Harris A, Pandina G. {{Autism Behavior Inventory: A Novel Tool for Assessing Core and Associated Symptoms of Autism Spectrum Disorder}}. {J Child Adolesc Psychopharmacol};2017 (May 12)
OBJECTIVE: Autism Behavior Inventory (ABI) is a new measure for assessing changes in core and associated symptoms of autism spectrum disorder (ASD) in participants (ages: 3 years-adulthood) diagnosed with ASD. It is a web-based tool with five domains (two ASD core domains: social communication, restrictive and repetitive behaviors; three associated domains: mental health, self-regulation, and challenging behavior). This study describes design, development, and initial psychometric properties of the ABI. METHODS: ABI items were generated following review of existing measures and inputs from expert clinicians. Initial ABI scale contained 161 items that were reduced to fit a factor analytic model, retaining items of adequate reliability. Two versions of the scale, ABI-full (ABI-F; 93 items) and ABI-short version (ABI-S; 36 items), were developed and evaluated for psychometric properties, including validity comparisons with commonly used measures. Both scales were administered to parents and healthcare professionals (HCPs) involved with study participants. RESULTS: Test-retest reliability (intraclass correlation coefficient [ICC] = 0.79) for parent ratings on ABI was robust and compared favorably to existing scales. Test-retest correlations for HCP ratings were generally lower versus parent ratings. ABI core domains and comparison measures strongly correlated (r >/= 0.70), demonstrating good concurrent validity. CONCLUSIONS: Overall, ABI demonstrates promise as a tool for measuring change in core symptoms of autism in ASD clinical studies, with further validation required.
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2. El-Ansary A, Bjorklund G, Chirumbolo S, Alnakhli OM. {{Predictive value of selected biomarkers related to metabolism and oxidative stress in children with autism spectrum disorder}}. {Metab Brain Dis};2017 (May 11)
Autism spectrum disorder (ASD) as a neurodevelopmental disorder is characterized by impairments in social interaction, communication, and restricted, repetitive behavior. Several and reproducible studies have suggested that oxidative stress may represent one of the primary etiological mechanism of ASD that can be targeted for therapeutic intervention. In the present study, multiple regression and combined receiver operating characteristic (ROC) analysis were used to search for a relationship between impaired energy and oxidative metabolic pathways in the etiology of ASD and to find the linear combination that maximizes the partial area under a ROC curve for a pre-identified set of markers related to energy metabolism and oxidative stress. Thirty children with ASD and 30 age and gender matched controls were enrolled in the study. Using either spectrophotometric or ELISA-colorimetric assay, levels of lipid peroxides, vitamin E, vitamin C, glutathione (GSH)/glutathione disulfide (GSSG) together with the enzymatic activity of catalase, plasma glutathione peroxidase (GPx), and blood superoxide dismutase (SOD), were measured in peripheral blood samples, as biomarkers related to oxidative stress. Creatine kinase, ectonucleotidases (ADPase and ATPase) Na+/K+ (ATPase), lactate, inorganic phosphate, and levels of adenosine monophosphate (AMP), adenosine diphosphate (ADP), and adenosine triphosphate (ATP) together with adenylate energy charge, were also measured as markers of impaired energy metabolism. Statistical analysis using ROC curves, multiple and logistic regression were performed. A remarkable increase in the area under the curve for most of the combined markers, representing both energy impaired metabolism or oxidative stress, was observed by using combined ROC analyses. Moreover, higher specificity and sensitivity of the combined markers were also reported. The present study indicated that the measurement of the predictive value of selected biomarkers related to energy metabolism and oxidative stress in children with ASD using ROC analysis should lead to the better identification of the etiological mechanism of ASD associated with metabolism and diet. Agents with activity against the impaired metabolic pathway associated with ASD including the metabolic defects and involved enzymes hold a promise as a novel therapy for ASD.
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3. Gadalla KKE, Vudhironarit T, Hector RD, Sinnett S, Bahey NG, Bailey MES, Gray SJ, Cobb SR. {{Development of a Novel AAV Gene Therapy Cassette with Improved Safety Features and Efficacy in a Mouse Model of Rett Syndrome}}. {Mol Ther Methods Clin Dev};2017 (Jun 16);5:180-190.
Rett syndrome (RTT), caused by loss-of-function mutations in the MECP2 gene, is a neurological disorder characterized by severe impairment of motor and cognitive functions. The aim of this study was to investigate the impact of vector design, dosage, and delivery route on the efficacy and safety of gene augmentation therapy in mouse models of RTT. Our results show that AAV-mediated delivery of MECP2 to Mecp2 null mice by systemic administration, and utilizing a minimal endogenous promoter, was associated with a narrow therapeutic window and resulted in liver toxicity at higher doses. Lower doses of this vector significantly extended the survival of mice lacking MeCP2 or expressing a mutant T158M allele but had no impact on RTT-like neurological phenotypes. Modifying vector design by incorporating an extended Mecp2 promoter and additional regulatory 3′ UTR elements significantly reduced hepatic toxicity after systemic administration. Moreover, direct cerebroventricular injection of this vector into neonatal Mecp2-null mice resulted in high brain transduction efficiency, increased survival and body weight, and an amelioration of RTT-like phenotypes. Our results show that controlling levels of MeCP2 expression in the liver is achievable through modification of the expression cassette. However, it also highlights the importance of achieving high brain transduction to impact the RTT-like phenotypes.
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4. Henry LA, Crane L, Nash G, Hobson Z, Kirke-Smith M, Wilcock R. {{Verbal, Visual, and Intermediary Support for Child Witnesses with Autism During Investigative Interviews}}. {J Autism Dev Disord};2017 (May 13)
Three promising investigative interview interventions were assessed in 270 children (age 6-11 years): 71 with autism spectrum disorder (ASD) and 199 who were typically developing (TD). Children received ‘Verbal Labels’, ‘Sketch Reinstatement of Context’ or ‘Registered Intermediary’ interviews designed to improve interview performance without decreasing accuracy. Children with ASD showed no increases in the number of correct details recalled for any of the three interview types (compared to a Best-Practice police interview), whereas TD children showed significant improvements in the Registered Intermediary and Verbal Labels interviews. Findings suggested that children with ASD can perform as well as TD children in certain types of investigative interviews, but some expected benefits (e.g., of Registered Intermediaries) were not apparent in this study.
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5. Hood SA, Luczynski KC, Mitteer DR. {{Toward meaningful outcomes in teaching conversation and greeting skills with individuals with autism spectrum disorder}}. {J Appl Behav Anal};2017 (May 13)
We identified greeting and conversation deficits based on a parent interview and semistructured direct assessment for one child and two adolescents with autism spectrum disorder. We taught the greeting and conversation skills using behavioral skills training and within-session corrective feedback. A multiple baseline across conversation and greeting skills demonstrated experimental control over the effects of the teaching on acquisition and generalization to novel adults. We also conducted embedded reversals to assess maintenance of the acquired skills. Teaching produced robust acquisition, generalization, maintenance, and treatment extension for 15 of the 16 targeted skills across participants. Participant and parent reports indicated high levels of social validity for the intervention and outcomes. The results support individualized assessment and intervention for improving greeting and conversation skills during unscripted interactions, which are requisite for more extended and complex social interactions.
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6. Luckhardt C, Kroger A, Cholemkery H, Bender S, Freitag CM. {{Neural Correlates of Explicit Versus Implicit Facial Emotion Processing in ASD}}. {J Autism Dev Disord};2017 (May 11)
The underlying neural mechanisms of implicit and explicit facial emotion recognition (FER) were studied in children and adolescents with autism spectrum disorder (ASD) compared to matched typically developing controls (TDC). EEG was obtained from N = 21 ASD and N = 16 TDC. Task performance, visual (P100, N170) and cognitive (late positive potential) event-related-potentials, as well as coherence were compared across groups. TDC showed a task-dependent increase and a stronger lateralization of P100 amplitude during the explicit task and task-dependent modulation of intra-hemispheric coherence in the beta band. In contrast, the ASD group showed no task dependent modulation. Results indicate disruptions in early visual processing and top-down attentional processes as contributing factors to FER deficits in ASD.
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7. Sohl K, Mazurek MO, Brown R. {{ECHO Autism: Using Technology and Mentorship to Bridge Gaps, Increase Access to Care, and Bring Best Practice Autism Care to Primary Care}}. {Clin Pediatr (Phila)};2017 (Jun);56(6):509-511.
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8. Tsai HJ, Cebula K, Fletcher-Watson S. {{The Role of the Broader Autism Phenotype and Environmental Stressors in the Adjustment of Siblings of Children with Autism Spectrum Disorders in Taiwan and the United Kingdom}}. {J Autism Dev Disord};2017 (May 13)
The influence of the broader autism phenotype (BAP) on the adjustment of siblings of children with autism has previously been researched mainly in Western cultures. The present research evaluated a diathesis-stress model of sibling adjustment using a questionnaire study including 80 and 75 mother-typically developing sibling dyads in Taiwan and the United Kingdom (UK). UK siblings reported elevated adjustment difficulties compared to the Taiwanese sample and to normative data. Whilst higher BAP levels were generally associated with greater adjustment difficulties, differences were found across cultures and respondents. Although significant diathesis-stress interactions were found, these were in the opposite direction from those predicted by the model, and differed across cultural settings. Implications for culturally-sensitive sibling support are considered.
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9. Waldman A, Bolotin D, Arndt KA, Dover JS, Geronemus RG, Chapas A, Iyengar S, Kilmer SL, Krakowski AC, Lawrence N, Prather HB, Rohrer TE, Schlosser BJ, Kim JYS, Shumaker PR, Spring LK, Alam M. {{ASDS Guidelines Task Force: Consensus Recommendations Regarding the Safety of Lasers, Dermabrasion, Chemical Peels, Energy Devices, and Skin Surgery During and After Isotretinoin Use}}. {Dermatol Surg};2017 (May 10)
BACKGROUND: Currently, the isotretinoin (13-cis-retinoic acid) package insert contains language advising the discontinuation of isotretinoin for 6 months before performing cosmetic procedures, including waxing, dermabrasion, chemical peels, laser procedures, or incisional and excisional cold-steel surgery. It is common practice to follow this standard because of concerns regarding reports of sporadic adverse events and increased risk of scarring. OBJECTIVE: To develop expert consensus regarding the safety of skin procedures, including resurfacing, energy device treatments, and incisional and excisional procedures, in the setting of concurrent or recent isotretinoin use. MATERIALS AND METHODS: The American Society for Dermatologic Surgery authorized a task force of content experts to review the evidence and provide guidance. First, data were extracted from the literature. This was followed by a clinical question review, a consensus Delphi process, and validation of the results by peer review. RESULTS: The task force concluded that there is insufficient evidence to justify delaying treatment with superficial chemical peels and nonablative lasers, including hair removal lasers and lights, vascular lasers, and nonablative fractional devices for patients currently or recently exposed to isotretinoin. Superficial and focal dermabrasion may also be safe when performed by a well-trained clinician.
