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https://www.readbyqxmd.com/read/29029213/recovery-kinetics-of-radiographic-and-implant-related-revision-patients-following-adult-spinal-deformity-surgery
#1
Peter G Passias, Cyrus M Jalai, Virginie Lafage, Gregory W Poorman, Shaleen Vira, Samantha R Horn, Justin K Scheer, D Kojo Hamilton, Breton G Line, Shay Bess, Frank J Schwab, Christopher P Ames, Douglas C Burton, Robert A Hart, Eric O Klineberg
BACKGROUND: Prior studies have observed similar health-related quality of life (HRQL) in revisions and nonrevision (NR) patients following adult spinal deformity (ASD) correction. However, a novel comparison approach may allow better comparisons in spine outcomes groups. OBJECTIVE: To determine if ASD revisions for radiographic and implant-related complications undergo a different recovery than NR patients. METHODS: Inclusion: ASD patients with complete HRQL (Oswestry Disability Index, Short-Form-36 version 2 (SF-36), Scoliosis Research Society [SRS]-22) at baseline, 6 wk, 1 yr, 2 yr...
October 6, 2017: Neurosurgery
https://www.readbyqxmd.com/read/29028946/mouse-cntnap2-and-human-cntnap2-asd-alleles-cell-autonomously-regulate-pv-cortical-interneurons
#2
Daniel Vogt, Kathleen K A Cho, Samantha M Shelton, Anirban Paul, Z Josh Huang, Vikaas S Sohal, John L R Rubenstein
Human mutations in CNTNAP2 are associated with an array of neuropsychiatric and neurological syndromes, including speech and language disorders, epilepsy, and autism spectrum disorder (ASD). We examined Cntnap2's expression and function in GABAergic cortical interneurons (CINs), where its RNA is present at highest levels in chandelier neurons, PV+ neurons and VIP+ neurons. In vivo functions were studied using both constitutive Cntnap2 null mice and a transplantation assay, the latter to assess cell autonomous phenotypes of medial ganglionic eminence (MGE)-derived CINs...
September 28, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/29028941/dysregulation-of-cortical-neuron-dna-methylation-profile-in-autism-spectrum-disorder
#3
Stefano Nardone, Dev Sharan Sams, Antonino Zito, Eli Reuveni, Evan Elliott
Autism Spectrum Disorder (ASD) is a complex neuropsychiatric syndrome whose etiology includes genetic and environmental components. Since epigenetic marks are sensitive to environmental insult, they may be involved in the development of ASD. Initial brain studies have suggested a dysregulation of epigenetic marks in ASD. However, due to cellular heterogeneity in the brain, these studies have not determined if there is a true change in the neuronal epigenetic signature. Here, we report a genome-wide methylation study on fluorescence-activated cell sorting-sorted neuronal nuclei from the frontal cortex of 16 male ASD and 15 male control subjects...
September 28, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/29028837/a-pilot-study-for-robot-appearance-preferences-among-high-functioning-individuals-with-autism-spectrum-disorder-implications-for-therapeutic-use
#4
Hirokazu Kumazaki, Zachary Warren, Taro Muramatsu, Yuichiro Yoshikawa, Yoshio Matsumoto, Masutomo Miyao, Mitsuko Nakano, Sakae Mizushima, Yujin Wakita, Hiroshi Ishiguro, Masaru Mimura, Yoshio Minabe, Mitsuru Kikuchi
Recent rapid technological advances have enabled robots to fulfill a variety of human-like functions, leading researchers to propose the use of such technology for the development and subsequent validation of interventions for individuals with autism spectrum disorder (ASD). Although a variety of robots have been proposed as possible therapeutic tools, the physical appearances of humanoid robots currently used in therapy with these patients are highly varied. Very little is known about how these varied designs are experienced by individuals with ASD...
2017: PloS One
https://www.readbyqxmd.com/read/29028817/mitochondrial-dysfunction-in-the-gastrointestinal-mucosa-of-children-with-autism-a-blinded-case-control-study
#5
Shannon Rose, Sirish C Bennuri, Katherine F Murray, Timothy Buie, Harland Winter, Richard Eugene Frye
Gastrointestinal (GI) symptoms are prevalent in autism spectrum disorder (ASD) but the pathophysiology is poorly understood. Imbalances in the enteric microbiome have been associated with ASD and can cause GI dysfunction potentially through disruption of mitochondrial function as microbiome metabolites modulate mitochondrial function and mitochondrial dysfunction is highly associated with GI symptoms. In this study, we compared mitochondrial function in rectal and cecum biopsies under the assumption that certain microbiome metabolites, such as butyrate and propionic acid, are more abundant in the cecum as compared to the rectum...
2017: PloS One
https://www.readbyqxmd.com/read/29028156/genetic-background-effects-in-neuroligin-3-mutant-mice-minimal-behavioral-abnormalities-on-c57-background
#6
Thomas C Jaramillo, Christine Ochoa Escamilla, Shunan Liu, Lauren Peca, Shari G Birnbaum, Craig M Powell
Neuroligin-3 (NLGN3) is a postsynaptic cell adhesion protein that interacts with presynaptic ligands including neurexin-1 (NRXN1) [Ichtchenko et al., Journal of Biological Chemistry, 271, 2676-2682, 1996]. Mice harboring a mutation in the NLGN3 gene (NL3R451C) mimicking a mutation found in two brothers with autism spectrum disorder (ASD) were previously generated and behaviorally phenotyped for autism-related behaviors. In these NL3R451C mice generated and tested on a hybrid C57BL6J/129S2/SvPasCrl background, we observed enhanced spatial memory and reduced social interaction [Tabuchi et al...
October 13, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29027913/neural-hyperexcitability-in-autism-spectrum-disorders
#7
REVIEW
Yukari Takarae, John Sweeney
Despite the progress that has been made in research on autism spectrum disorders (ASD), the understanding of the biological basis of ASD to identify targets for novel, effective treatment remains limited. One of the leading biological theories of autism is a model of cortical hyperexcitability. While numerous genetic and epigenetic studies support this model, how this particular biological alteration relates to known phenotypes in ASD is not well established. Using examples of sensory processing alterations, this review illustrates how cortical excitability may affect neural processes to result eventually in some core clinical phenotypes in ASD...
October 13, 2017: Brain Sciences
https://www.readbyqxmd.com/read/29027815/l-carnosine-as-an-adjunctive-therapy-to-risperidone-in-children-with-autistic-disorder-a-randomized-double-blind-placebo-controlled-trial
#8
Reihaneh Hajizadeh-Zaker, Alireza Ghajar, Bita Mesgarpour, Mohsen Afarideh, Mohammad-Reza Mohammadi, Shahin Akhondzadeh
OBJECTIVES: This study aimed at investigating the efficacy and tolerability of l-carnosine as an add-on to risperidone in the management of children with autism. METHODS: This was a 10-week, randomized, double-blind, placebo-controlled study. Seventy drug-free children aged 4-12 years old with a diagnosis of autism spectrum disorder (ASD), according to the Diagnostic and Statistical Manual of Mental Disorders, fifth edition. (DSM-5) who had an Aberrant Behavior Checklist-Community (ABC-C) scale irritability subscale score of ≥12, entered the study...
October 13, 2017: Journal of Child and Adolescent Psychopharmacology
https://www.readbyqxmd.com/read/29027111/excessive-d1-dopamine-receptor-activation-in-the-dorsal-striatum-promotes-autistic-like-behaviors
#9
Yunjin Lee, Hannah Kim, Ji-Eun Kim, Jin-Young Park, Juli Choi, Jung-Eun Lee, Eun-Hwa Lee, Pyung-Lim Han
The dopamine system has been characterized in motor function, goal-directed behaviors, and rewards. Recent studies recognize various dopamine system genes as being associated with autism spectrum disorder (ASD). However, how dopamine system dysfunction induces ASD pathophysiology remains unknown. In the present study, we demonstrated that mice with increased dopamine functions in the dorsal striatum via the suppression of dopamine transporter expression in substantia nigra neurons or the optogenetic stimulation of the nigro-striatal circuitry exhibited sociability deficits and repetitive behaviors relevant to ASD pathology in animal models, while these behavioral changes were blocked by a D1 receptor antagonist...
October 12, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/29027068/array-cgh-analysis-in-a-cohort-of-phenotypically-well-characterized-individuals-with-essential-autism-spectrum-disorders
#10
Eleonora Napoli, Serena Russo, Laura Casula, Viola Alesi, Filomena Alessandra Amendola, Adriano Angioni, Antonio Novelli, Giovanni Valeri, Deny Menghini, Stefano Vicari
Copy-number variants (CNVs) are associated with susceptibility to autism spectrum disorder (ASD). To detect the presence of CNVs, we conducted an array-comparative genomic hybridization (array-CGH) analysis in 133 children with "essential" ASD phenotype. Genetic analyses documented that 12 children had causative CNVs (C-CNVs), 29 children had non-causative CNVs (NC-CNVs) and 92 children without CNVs (W-CNVs). Results on clinical evaluation showed no differences in cognitive abilities among the three groups, and a higher number of ASD symptoms and of non-verbal children in the C-CNVs group compared to the W-CNVs and NC-CNVs groups...
October 12, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29027066/white-matter-microstructure-of-the-human-mirror-neuron-system-is-related-to-symptom-severity-in-adults-with-autism
#11
Odette Fründt, Robert Schulz, Daniel Schöttle, Bastian Cheng, Götz Thomalla, Hanna Braaß, Christos Ganos, Nicole David, Ina Peiker, Andreas K Engel, Tobias Bäumer, Alexander Münchau
Mirror neuron system (MNS) dysfunctions might underlie deficits in autism spectrum disorders (ASD). Diffusion tensor imaging based probabilistic tractography was conducted in 15 adult ASD patients and 13 matched, healthy controls. Fractional anisotropy (FA) was quantified to assess group differences in tract-related white matter microstructure of both the classical MNS route (mediating "emulation") and the alternative temporo-frontal route (mediating "mimicry"). Multiple linear regression was used to investigate structure-function relationships between MNS connections and ASD symptom severity...
October 12, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29026509/development-and-evaluation-of-a-speech-generating-aac-mobile-app-for-minimally-verbal-children-with-autism-spectrum-disorder-in-mainland-china
#12
Sainan An, Xiaoping Feng, Yue Dai, Hongli Bo, Xiuqing Wang, Mu Li, John Zhuohao Woo, Xingmei Liang, Cheng Guo, Charles Xingchao Liu, Liping Wei
BACKGROUND: Mobile touchscreen devices are currently being used as speech-generating devices (SGDs) and have been shown to promote the communication skills, particularly the requesting skills of children with autism spectrum disorders (ASD) who have limited spoken language. However, no augmentative and alternative communication (AAC) mobile app has been developed and evaluated in the Chinese language in Mainland China. METHODS: We developed an AAC mobile app, which is the first in Mainland China, to our knowledge, named Yuudee (Chinese name (xiaoyudi))...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29026508/the-association-between-maternal-use-of-folic-acid-supplements-during-pregnancy-and-risk-of-autism-spectrum-disorders-in-children-a-meta-analysis
#13
Meiyun Wang, Kaiqin Li, Dongmei Zhao, Ling Li
Previous reviews have been conducted to evaluate the association between maternal use of folic acid supplements during pregnancy and risk of autism spectrum disorders (ASD) in children, with no definitive conclusion. We therefore conducted a more comprehensive meta-analysis to reassess the relationship between folic acid and the risk of ASD. The electronic databases PubMed, Web of Knowledge, and Wanfang Data were carefully searched to find eligible studies as recent as March 2017. A random effects model was used to combine the relative risk (RR) with 95% confidence intervals (CI)...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29022199/injuries-in-children-with-autism-spectrum-disorder-study-to-explore-early-development-seed
#14
Carolyn DiGuiseppi, Susan E Levy, Katherine R Sabourin, Gnakub N Soke, Steven Rosenberg, Li-Ching Lee, Eric Moody, Laura A Schieve
This study examined caregiver-reported medically-attended injuries among 30-68 month old children with autism spectrum disorder (ASD) compared to general population (POP) and non-ASD developmental disorders (DD) controls in the Study to Explore Early Development. Injuries were common in ASD cases (32.3%) as well as POP (30.2%) and DD (27.8%) controls; most resulted in an emergency visit or hospitalization. After accounting for sociodemographic, health, IQ and behavior differences, odds of injury in ASD cases were significantly higher than DD controls but similar to POP controls...
October 11, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29022174/challenges-of-females-with-autism-a-parental-perspective
#15
Marilena Mademtzi, Pavita Singh, Fred Shic, Kathy Koenig
Most studies investigating the experiences and needs of individuals with ASD have largely focused on males. Hence, this study investigates parents' perspectives on the challenges that their daughters with ASD face. In total, 40 parents of 40 females with autism (age range = 4-29 years; mean = 15.9) participated in the study. Five separate, 2-h long focus groups were conducted, with 7-10 participants in each group. Field notes were analyzed using thematic analysis. Some of the issues parents discussed were similar to those experienced by males with ASD, such as challenges in social interactions...
October 11, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29022149/brief-report-self-reported-academic-social-and-mental-health-experiences-of-post-secondary-students-with-autism-spectrum-disorder
#16
Scott L J Jackson, Logan Hart, Jane Thierfeld Brown, Fred R Volkmar
Increasing numbers of individuals with autism spectrum disorder (ASD) are enrolling in post-secondary academic institutions. However, research indicates that post-secondary students with ASD are struggling more than their typically developing peers, with high rates of loneliness, anxiety, depression, and an increased incidence of dropping-out before completion of their degrees. The current study utilized an online survey to gain insight into the self-reported academic, social, and mental health experiences of post-secondary students with ASD...
October 11, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29022130/compass-for-hope-evaluating-the-effectiveness-of-a-parent-training-and-support-program-for-children-with-asd
#17
Grace M Kuravackel, Lisa A Ruble, Robert J Reese, Amanda P Ables, Alexis D Rodgers, Michael D Toland
Despite the growing number of studies that demonstrate the importance of empowering parents with knowledge and skills to act as intervention agents for their children with autism spectrum disorder (ASD), there are limited examples of parent-mediated interventions that focus on problem behaviors. Additionally, access to ASD-trained clinicians and research supported delivery options for families in rural areas is severely limited. COMPASS for Hope (C-HOPE) is an 8-week parent intervention program that was developed with the option of telehealth or face-to-face delivery...
October 11, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29021944/a-program-evaluation-of-home-and-center-based-treatment-for-autism-spectrum-disorder
#18
Dennis R Dixon, Claire O Burns, Doreen Granpeesheh, Roshan Amarasinghe, Alva Powell, Erik Linstead
The present study aimed to retrospectively compare the relative rates of mastery of exemplars for individuals with ASD (N = 313) who received home-based and center-based services. A between-group analysis found that participants mastered significantly more exemplars per hour when receiving center-based services than home-based services. Likewise, a paired-sample analysis found that participants who received both home and center-based services had mastered 100 % more per hour while at the center than at home...
September 2017: Behavior Analysis in Practice
https://www.readbyqxmd.com/read/29021937/recommendations-for-identifying-sleep-problems-and-treatment-resources-for-children-with-autism-spectrum-disorder
#19
Emily Abel, So Yeon Kim, Ashleigh M Kellerman, Matthew T Brodhead
Many young children experience sleep problems that may influence their daytime functioning. These sleep problems are especially prevalent in young children with autism spectrum disorder (ASD). Therefore, general recommendations for identifying and treating sleep problems in children with ASD are needed for behavior analysts to identify potential sleep problems and make empirically informed decisions regarding treatment options. The current paper seeks to provide behavior analysts, who work with children with ASD, with informative research on pediatric sleep problems, sleep measures, and options for behavioral sleep treatment...
September 2017: Behavior Analysis in Practice
https://www.readbyqxmd.com/read/29021890/zebrafish-knockout-of-down-syndrome-gene-dyrk1a-shows-social-impairments-relevant-to-autism
#20
Oc-Hee Kim, Hyun-Ju Cho, Enna Han, Ted Inpyo Hong, Krishan Ariyasiri, Jung-Hwa Choi, Kyu-Seok Hwang, Yun-Mi Jeong, Se-Yeol Yang, Kweon Yu, Doo-Sang Park, Hyun-Woo Oh, Erica E Davis, Charles E Schwartz, Jeong-Soo Lee, Hyung-Goo Kim, Cheol-Hee Kim
BACKGROUND: DYRK1A maps to the Down syndrome critical region at 21q22. Mutations in this kinase-encoding gene have been reported to cause microcephaly associated with either intellectual disability or autism in humans. Intellectual disability accompanied by microcephaly was recapitulated in a murine model by overexpressing Dyrk1a which mimicked Down syndrome phenotypes. However, given embryonic lethality in homozygous knockout (KO) mice, no murine model studies could present sufficient evidence to link Dyrk1a dysfunction with autism...
2017: Molecular Autism
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