1. Barnette DJ, Hanks C, Li W, Porter K. {{Patient-level medication regimen complexity in an adolescent and adult population with autism spectrum disorders}}. {Pharmacotherapy}. 2018.
BACKGROUND: Adults with autism spectrum disorder (ASD) frequently experience polypharmacy. However, there is limited understanding of how to quantify medication complexity in this vulnerable population. OBJECTIVE: This study examined medication administration difficulty using the Medication Regimen Complexity Index (MRCI) tool in adolescents and adults with ASD. The outcomes compared the mean total MRCI score with the medication count, described MRCI contributions for over-the-counter medication (OTC), and compared MRCI scores by patient characteristics. METHODS: This was a retrospective chart review of patients aged 7-45 years (mean=20.1) enrolled in a primary care ASD transitions program. Each patient’s listed medications were counted and then scored using the validated MRCI tool. RESULTS: For the 142 patients studied, mean total MRCI was 14.6 +/- 14.6 (range 0-89) and mean medication count was 6.3 +/- 5.4 (range 0-38). For patients on 0-4 medications (66 of 142; 46.5%) the mean MRCI was 5.5 +/- 4.2, 5-9 medications (50 of 142; 35.2%) the mean MRCI was 15.2 +/- 6.8, and 10-38 medications (26 of 142; 18.3%) the mean MRCI was 36.5 +/-18.9 (p < 0.001). Sixty percent (85 of 142) reported OTC use, which contributed 26.6% to the mean total MRCI. Reported benzodiazepine (mean MRCI 25.8 +/- 17.2), antiepileptic (mean MRCI 23.7 +/- 16.9), antipsychotic (mean MRCI 19.7 +/- 15.9), or antidepressant (mean MRCI 17.0 + /- 14.8) use received higher MRCI scores compared to non-use (p < 0.001 for all except antidepressants [p = 0.004]). Total MRCI did not differ significantly by age group, sex, or attention deficit/ hyperactivity disorder (ADHD) medication use (stimulant or non-stimulant). CONCLUSIONS: Medication regimen complexity in adolescents and adults with ASD, was increased significantly for individuals taking 5 or more medications. Central nervous system agent use, other than ADHD therapy, identified patients with higher regimen complexity. The related clinical effects of these findings warrant further investigation. This article is protected by copyright. All rights reserved. Lien vers le texte intégral (Open Access ou abonnement)
2. Brendt PD, Mathews AD, Greenberg RD, Arnold MP. {{Autistic Man Falling Through The Cracks. Advanced patient transport and the « pop-up » recovery ward}}. {Prehospital emergency care : official journal of the National Association of EMS Physicians and the National Association of State EMS Directors}. 2018: 1-4.
The Royal Flying Doctor Service was tasked to relocate a 19 year-old autistic patient with severe social anxiety, agoraphobia and morbid obesity from one residential location to another. The retrieval team was confronted with two main challenges: 1. Continuous risk elevation in an elective patient transportation as distinct from other urgent prehospital transfers of mental health patients. 2. Pre-hospital ketamine/propofol sedation of an aggressive/combative patient with recovery from sedation in a private property. The transfer accomplished the successful relocation of the patient.
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3. Cohen IL, Flory MJ. {{Autism Spectrum Disorder Decision Tree Subgroups Predict Adaptive Behavior and Autism Severity Trajectories in Children with ASD}}. {Journal of autism and developmental disorders}. 2018.
A recent cross-sectional analysis of PDD Behavior Inventory (PDDBI) data, analyzed with a classification and regression tree algorithm, yielded a decision tree (the Autism Spectrum Disorder-Decision Tree or ASD-DT) that detected three behaviorally distinct ASD subgroups: minimally verbal, verbal, and atypical. These subgroups differed in PDDBI profiles and in factors previously reported to be predictors of autism severity and adaptive behavior trajectories. We retrospectively analyzed trajectories of adaptive skills and autism severity in these subgroups, defined by ASD-DTs calculated from initial evaluation PDDBIs. Results confirmed predictions that each subgroup had distinct trajectories that varied with the type of adaptive behavior assessed suggesting that the ASD-DT has prognostic value that could be helpful for both clinical and research applications.
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4. Guo H, Duyzend MH, Coe BP, Baker C, Hoekzema K, Gerdts J, Turner TN, Zody MC, Beighley JS, Murali SC, Nelson BJ, Bamshad MJ, Nickerson DA, Bernier RA, Eichler EE. {{Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes}}. {Genetics in medicine : official journal of the American College of Medical Genetics}. 2018.
PURPOSE: To maximize the discovery of potentially pathogenic variants to better understand the diagnostic utility of genome sequencing (GS) and to assess how the presence of multiple risk events might affect the phenotypic severity in autism spectrum disorders (ASD). METHODS: GS was applied to 180 simplex and multiplex ASD families (578 individuals, 213 patients) with exome sequencing and array comparative genomic hybridization further applied to a subset for validation and cross-platform comparisons. RESULTS: We found that 40.8% of patients carried variants with evidence of disease risk, including a de novo frameshift variant in NR4A2 and two de novo missense variants in SYNCRIP, while 21.1% carried clinically relevant pathogenic or likely pathogenic variants. Patients with more than one risk variant (9.9%) were more severely affected with respect to cognitive ability compared with patients with a single or no-risk variant. We observed no instance among the 27 multiplex families where a pathogenic or likely pathogenic variant was transmitted to all affected members in the family. CONCLUSION: The study demonstrates the diagnostic utility of GS, especially for multiple risk variants that contribute to the phenotypic severity, shows the genetic heterogeneity in multiplex families, and provides evidence for new genes for follow up.
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5. Kumazaki H, Warren Z, Swanson A, Yoshikawa Y, Matsumoto Y, Yoshimura Y, Shimaya J, Ishiguro H, Sarkar N, Wade J, Mimura M, Minabe Y, Kikuchi M. {{Brief Report: Evaluating the Utility of Varied Technological Agents to Elicit Social Attention from Children with Autism Spectrum Disorders}}. {Journal of autism and developmental disorders}. 2018.
Technological agents could be effective tools to be used in interventions for enhancing social orienting for some young children with ASD. We examined response to social bids in preschool children with ASD and typical development (TD) at a very early age (i.e., around 3 years) using social prompts presented by technological agents of various forms and human comparisons. Children with ASD demonstrated less response overall to social bids compared to TD controls, across agents or human. They responded more often to a simple humanoid robot and the simple avatar compared to the human. These results support the potential utilization of specific robotic and technological agents for harnessing and potentially increasing motivation to socially-relevant behaviors in some young children with ASD.
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6. Laidi C, Boisgontier J, de Pierrefeu A, Duchesnay E, Hotier S, d’Albis MA, Delorme R, Bolognani F, Czech C, Bouquet C, Amestoy A, Petit J, Holiga S, Dukart J, Gaman A, Toledano E, Ly-Le Moal M, Scheid I, Leboyer M, Houenou J. {{Decreased Cortical Thickness in the Anterior Cingulate Cortex in Adults with Autism}}. {Journal of autism and developmental disorders}. 2018.
Autism spectrum disorder (ASD) is a developmental disorder underdiagnosed in adults. To date, no consistent evidence of alterations in brain structure has been reported in adults with ASD and few studies were conducted at that age. We analyzed structural magnetic resonance imaging data from 167 high functioning adults with ASD and 195 controls. We ran our analyses on a discovery (n = 301) and a replication sample (n = 61). The right caudal anterior cingulate cortical thickness was significantly thinner in adults with ASD compared to controls in both the discovery and the replication sample. Our work underlines the relevance of studying the brain anatomy of an adult ASD population.
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7. Srinivasan SM, Bhat AN. {{Differences in means-end exploration between infants at risk for autism and typically developing infants in the first 15 months of life}}. {Developmental psychobiology}. 2018.
Our study compared means-end exploration in infants at risk (AR) for autism and typically developing (TD) infants using a nested box paradigm. Sixteen AR and 16 TD infants were observed at 9, 12, and 15 months with follow-up at 18 and 24 months. We collected video data on three tasks involving retrieval of a small toy by opening (a) an opaque box, (b) a transparent box, and (c) two nested boxes. Dependent variables included hand bias, time to completion, bilateral hand use, problem-solving strategies used, and tester assistance required. There were no group differences in terms of hand biases. Compared to TD infants, AR infants had lower bilateral hand use, poor problem solving skills, and required greater assistance. Both groups demonstrated age-related improvements in motor and cognitive skills. Means-end exploration provides a window into the bilateral coordination and motor planning/problem-solving abilities of young infants at risk for autism. Lastly, object retrieval tasks could serve as important learning contexts for at-risk infants.
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8. Xu G, Strathearn L, Liu B, O’Brien M, Kopelman TG, Zhu J, Snetselaar LG, Bao W. {{Prevalence and Treatment Patterns of Autism Spectrum Disorder in the United States, 2016}}. {JAMA pediatrics}. 2018.
Importance: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder. Previous surveys have reported a steady increase in ASD prevalence in US children over the past decades. Several behavioral therapies and medications have been developed to treat the symptoms of ASD; however, little is known about the current status of treatment usage for children diagnosed as having ASD. Objective: To estimate the prevalence and treatment patterns of ASD among US children using nationally representative data. Design, Setting, and Participants: This study used data from the 2016 National Survey of Children’s Health, a nationwide, population-based, cross-sectional survey. We included 43032 children aged 3 to 17 years. Data were collected through questionnaires completed by a parent or guardian. Data were analyzed from February 2018 to March 2018. Main Outcomes and Measures: Outcome variables included ASD diagnosed by a physician or health professional and the use of behavioral treatment or medication treatment among children with ASD. Results: Of the 43032 included participants, 22072 (51.3%) were male, and the mean (SD) age was 10.7 (4.4) years. The weighted prevalence of ever-diagnosed ASD and current ASD were 2.79% (95% CI, 2.46-3.12) and 2.50% (95% CI, 2.21-2.79), respectively. The state-level prevalence of ever-diagnosed ASD varied from 1.54% (95% CI, 0.60-2.48) in Texas to 4.88% (95% CI, 2.72-7.05) in Florida. Nationally, about 70% of children with current ASD (70.5%; 95% CI, 65.1-75.8) were treated; 43.3% (95% CI, 37.4-49.2) received behavioral treatment only, 6.9% (95% CI, 3.7-10.1) received medication treatment only, and 20.3% (95% CI, 16.5-24.1) received both behavioral and medication treatments. The remaining 29.5% (95% CI, 24.2-34.9) of children with current ASD did not receive either behavioral or medication treatment. Conclusions and Relevance: This study showed that the prevalence of ASD in the United States was relatively high, and it varied substantially across US states. Almost 30% of US children with ASD did not receive behavioral or medication treatment, which calls for a critical need to understand and address the barriers for those children to receive appropriate treatments.
