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R E Frye, S Rose, J Chacko, R Wynne, S C Bennuri, J C Slattery, M Tippett, L Delhey, S Melnyk, S G Kahler, D F MacFabe
Propionic acid (PPA) is a ubiquitous short-chain fatty acid, which is a major fermentation product of the enteric microbiome. PPA is a normal intermediate of metabolism and is found in foods, either naturally or as a preservative. PPA and its derivatives have been implicated in both health and disease. Whereas PPA is an energy substrate and has many proposed beneficial effects, it is also associated with human disorders involving mitochondrial dysfunction, including propionic acidemia and autism spectrum disorders (ASDs)...
October 25, 2016: Translational Psychiatry
Punit Shah, Caroline Catmur, Geoffrey Bird
The way choices are framed influences decision-making. These "framing effects" emerge through the integration of emotional responses into decision-making under uncertainty. It was previously reported that susceptibility to the framing effect was reduced in individuals with autism spectrum disorder (ASD) due to a reduced tendency to incorporate emotional information into the decision-making process. However, recent research indicates that, where observed, emotional processing impairments in ASD may be due to co-occurring alexithymia...
2016: Molecular Autism
Linda M Reis, Rebecca C Tyler, Eric Weh, Kathryn E Hendee, Ariana Kariminejad, Omar Abdul-Rahman, Tawfeg Ben-Omran, Melanie A Manning, Catherine A McCarty, Terrie E Kitchner, Deborah Costakos, Elena V Semina
PURPOSE: The CYP1B1 gene encodes an enzyme that is a member of the cytochrome P450 superfamily. Mutations in CYP1B1 have been mainly reported in recessive pediatric ocular phenotypes, such as primary congenital glaucoma (PCG) and congenital glaucoma with anterior segment dysgenesis (CG with ASD), with some likely pathogenic variants also identified in families affected with adult-onset primary open angle glaucoma (POAG). METHODS: We examined CYP1B1 in 158 pediatric patients affected with PCG (eight), CG with ASD (22), CG with other developmental ocular disorders (11), juvenile glaucoma with or without additional ocular anomalies (26), and ASD or other developmental ocular conditions without glaucoma (91); in addition, a large cohort of adult patients with POAG (193) and POAG-negative controls (288) was examined...
2016: Molecular Vision
Satoshi Akagi, Kazufumi Nakamura, Teiji Akagi, Koji Nakagawa, Yoichi Takaya, Toshihiro Sarashina, Kentaro Ejiri, Hiroshi Ito
A treatment strategy for patients with pulmonary hypertension (PH) and atrial septal defect (ASD) remains unclear. This study was designed to evaluate the effects of initial repair of ASD followed by treatment with PH-specific drugs in patients with PH and ASD. Eligible patients receive transcatheter ASD closure followed by treatment with bosentan and sildenafil. Right heart catheterization is performed at baseline and at 12, 24 and 48 weeks. The primary endpoint is change in pulmonary artery pressure and pulmonary vascular resistance from baseline to follow-up...
October 2016: Acta Medica Okayama
W Li, L Huang, J Zeng, W Lin, K Li, J Sun, W Huang, J Chen, G Wang, Q Ke, J Duan, X Lai, R Chen, M Liu, Y Liu, T Wang, X Yang, Y Chen, H Xia, A P Xiang
The enteric nervous system (ENS) is recognized as a second brain because of its complexity and its largely autonomic control of bowel function. Recent progress in studying the interactions between the ENS and the central nervous system (CNS) has implicated alterations of the gut/brain axis as a possible mechanism in the pathophysiology of autism spectrum disorders (ASDs), Parkinson's disease (PD) and other human CNS disorders, whereas the underlying mechanisms are largely unknown because of the lack of good model systems...
October 25, 2016: Molecular Psychiatry
John F Strang, Haley Meagher, Lauren Kenworthy, Annelou L C de Vries, Edgardo Menvielle, Scott Leibowitz, Aron Janssen, Peggy Cohen-Kettenis, Daniel E Shumer, Laura Edwards-Leeper, Richard R Pleak, Norman Spack, Dan H Karasic, Herbert Schreier, Anouk Balleur, Amy Tishelman, Diane Ehrensaft, Leslie Rodnan, Emily S Kuschner, Francie Mandel, Antonia Caretto, Hal C Lewis, Laura G Anthony
Evidence indicates an overrepresentation of youth with co-occurring autism spectrum disorders (ASD) and gender dysphoria (GD). The clinical assessment and treatment of adolescents with this co-occurrence is often complex, related to the developmental aspects of ASD. There are no guidelines for clinical care when ASD and GD co-occur; however, there are clinicians and researchers experienced in this co-occurrence. This study develops initial clinical consensus guidelines for the assessment and care of adolescents with co-occurring ASD and GD, from the best clinical practices of current experts in the field...
October 24, 2016: Journal of Clinical Child and Adolescent Psychology
Jalie A Tucker, JeeWon Cheong, Susan D Chandler, Brice H Lambert, Brittney Pietrzak, Heather Kwok, Susan L Davies
BACKGROUND: As interventions have expanded beyond clinical treatment to include brief interventions for persons with less severe alcohol problems, predicting who can achieve stable moderation drinking has gained importance. Recent behavioral economic (BE) research on natural recovery has shown that active problem drinkers who allocate their monetary expenditures on alcohol and saving for the future over longer time horizons tend to have better subsequent recovery outcomes, including maintenance of stable moderation drinking...
October 24, 2016: Alcoholism, Clinical and Experimental Research
Francisco Jesús Martinez-Murcia, Meng-Chuan Lai, Juan Manuel Górriz, Javier Ramírez, Adam M H Young, Sean C L Deoni, Christine Ecker, Michael V Lombardo, Simon Baron-Cohen, Declan G M Murphy, Edward T Bullmore, John Suckling
Neuroimaging studies have reported structural and physiological differences that could help understand the causes and development of Autism Spectrum Disorder (ASD). Many of them rely on multisite designs, with the recruitment of larger samples increasing statistical power. However, recent large-scale studies have put some findings into question, considering the results to be strongly dependent on the database used, and demonstrating the substantial heterogeneity within this clinically defined category. One major source of variance may be the acquisition of the data in multiple centres...
October 24, 2016: Human Brain Mapping
Chao Liu, Yue Zhou
OBJECTIVE: To compare the clinical outcomes of patients with recurrent lumbar disc disease undergoing percutaneous endoscopic lumbar discectomy and minimally invasive transforaminal lumbar Interbody fusion at a single clinic. METHODS: Between January 2008 to January 2014, 401 consecutive patients with first time of recurrent lumbar disc herniation which were treated with PELD or MIS-TLIF. The data collected prospectively for analysis were clinical and radiographic results after revision surgery and complications...
October 20, 2016: World Neurosurgery
Helen E Vuong, Elaine Y Hsiao
Autism spectrum disorder (ASD) is a serious neurodevelopmental disorder that affects one in 45 children in the United States, with a similarly striking prevalence in countries around the world. However, mechanisms underlying its etiology and manifestations remain poorly understood. Although ASD is diagnosed based on the presence and severity of impaired social communication and repetitive behavior, immune dysregulation and gastrointestinal issues are common comorbidities. The microbiome is an integral part of human physiology; recent studies show that changes in the gut microbiota can modulate gastrointestinal physiology, immune function, and even behavior...
August 26, 2016: Biological Psychiatry
Akshay Gupta, Rajat Kalra, Reena Khantwal Joshi, Neeraj Aggarwal, Mridul Aggarwal, Rakesh Pandey, Raja Joshi
Parachute valve is the malformation of an atrioventricular valve in which the tension apparatus springs from a single papillary muscle or group of muscles. Parachute tricuspid valve is a rare anomaly with no surgically repaired case to date. We describe a case of parachute deformity of the tricuspid valve leading to hemodynamically significant severe tricuspid stenosis. The present case was successfully repaired surgically along with atrial septal defect (ASD) and ventricular septal defect (VSD) closure.
November 2016: Annals of Thoracic Surgery
Chloe Lane, Elizabeth Milne, Megan Freeth
Sotos syndrome is a congenital overgrowth disorder with an incidence of approximately 1 in 14,000. This study investigated behavioural characteristics of ASD within a large cohort of individuals with Sotos syndrome (n = 78). As measured by the Social Responsiveness Scale, second edition (SRS-2), 65 participants (83.33 %) met clinical cut-off (T-score ≥60). There was no significant gender difference in symptom severity. There was a significant effect of age, with lower scores observed in early childhood and adulthood, compared to childhood...
October 22, 2016: Journal of Autism and Developmental Disorders
Laila Y AlAyadhi, Jamil A Hashmi, Muhammad Iqbal, Alia M Albalawi, Mohammad I Samman, Nadra E Elamin, Shahid Bashir, Sulman Basit
Single nucleotide polymorphisms (SNP) - based genotyping using microarray platform is now frequently used to detect copy number variants (CNVs) in the human genome. Here, we report CNVs identified using Illumina HumanOmni 2.5 M oligonucleotide microarrays in 11 multiplex families with autism spectrum disorder (ASD) referred to Autism Research and Treatment Center (ART) and Madinah Maternity and Children Hospital (MMCH). Of the 11 families, 22 patients with ASD (all males) and their parents, were recruited for the present study...
October 19, 2016: Neuroscience
Ashley de Marchena, Judith Miller
Many individuals with ASD have a distinctive behavioral presentation that is recognizable within moments, a phenomenon we call "frank" ASD. This phenomenon has been discussed informally for decades, perhaps as "classic" ASD; however, there is no unitary "classic" presentation, and classic autism does not seem to correspond to level of functioning. Thus, neither "frank" nor "classic" autism has been delineated or studied as a research construct. To initiate the empirical study of frank ASD, we surveyed 151 clinicians, from a range of disciplines that diagnose ASD, about this phenomenon...
October 21, 2016: Autism Research: Official Journal of the International Society for Autism Research
C H M Cheung, R Bedford, M H Johnson, T Charman, T Gliga
An enhanced ability to detect visual targets amongst distractors, known as visual search (VS), has often been documented in Autism Spectrum Disorders (ASD). Yet, it is unclear when this behaviour emerges in development and if it is specific to ASD. We followed up infants at high and low familial risk for ASD to investigate how early VS abilities links to later ASD diagnosis, the potential underlying mechanisms of this association and the specificity of superior VS to ASD. Clinical diagnosis of ASD as well as dimensional measures of ASD, attention-deficit/hyperactivity disorder (ADHD) and anxiety symptoms were ascertained at 3 years...
September 30, 2016: Developmental Cognitive Neuroscience
Sarsvat Patel, Xiang Kou, Hao Helen Hou, Ye Bill Huang, John C Strong, Geoff G Z Zhang, Changquan Calvin Sun
Amorphous solid dispersions (ASDs) consisting of acetaminophen (APAP) and copovidone were systematically studied to identify effects of drug loading and moisture content on mechanical properties, thermal properties, and tableting behavior. ASDs containing APAP at different levels were prepared by film casting and characterized by differential scanning calorimetry and nanoindentation. The glass transition temperature (Tg) continuously decreased with increasing amount of APAP, but the hardness of ASDs was increased at a low APAP content and reduced at high APAP content...
October 18, 2016: Journal of Pharmaceutical Sciences
Cecilia Llambias, Joyce Magill-Evans, Veronica Smith, Sharon Warren
Engagement in meaningful activities is essential to development and is often reduced in children with autism spectrum disorder (ASD) who have limited engagement in activities or relationships. A multiple-baseline design was used with 7 children with ASD ages 4-8 yr to assess the effect of including a horse in occupational therapy intervention on task engagement. The children showed improvements in engagement. Including horses in occupational therapy sessions may be a valuable addition to conventional treatments to increase task engagement of children with ASD...
November 2016: American Journal of Occupational Therapy: Official Publication of the American Occupational Therapy Association
Barbara M Schupak, Raju K Parasher, Genevieve Pinto Zipp
OBJECTIVE: We established test-retest reliability of electrodermal markers used to quantify physiological response to sensation using the Sensory Challenge Protocol in children with and without autism spectrum disorder (ASD). METHOD: Electrodermal activity (EDA) was measured during rest and in response to sensory inputs. Fourteen children with ASD and 18 typically developing children were tested and retested after 2-6 wk on skin conductance response, skin conductance level, nonspecific skin conductance response, and habituation...
November 2016: American Journal of Occupational Therapy: Official Publication of the American Occupational Therapy Association
Alexander A Theologis, Gregory M Mundis, Stacie Nguyen, David O Okonkwo, Praveen V Mummaneni, Justin S Smith, Christopher I Shaffrey, Richard Fessler, Shay Bess, Frank Schwab, Bassel G Diebo, Douglas Burton, Robert Hart, Vedat Deviren, Christopher Ames
OBJECTIVE The aim of this study was to evaluate the utility of supplementing long thoracolumbar posterior instrumented fusion (posterior spinal fusion, PSF) with lateral interbody fusion (LIF) of the lumbar/thoracolumbar coronal curve apex in adult spinal deformity (ASD). METHODS Two multicenter databases were evaluated. Adults who had undergone multilevel LIF of the coronal curve apex in addition to PSF with L5-S1 interbody fusion (LS+Apex group) were matched by number of posterior levels fused with patients who had undergone PSF with L5-S1 interbody fusion without LIF (LS-Only group)...
October 21, 2016: Journal of Neurosurgery. Spine
Stephen J Walker, Daniel P Beavers, John Fortunato, Arthur Krigsman
Gastrointestinal symptoms are common in children with autism spectrum disorder (ASD). A significant proportion of children with ASD and gastrointestinal symptoms have histologic evidence of ileocolitis (inflammation of the terminal ileum and/or colon). We previously reported the molecular characterization of gastrointestinal biopsy tissue from ASD children with ileocolitis (ASD(IC+)) compared to anatomically similar inflamed tissue from typically developing children with inflammatory bowel disease (IBD; i.e...
October 21, 2016: Scientific Reports
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