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"Autism Spectrum Disorder."
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Assessing the Causal Effects of Human Serum Metabolites on 5 Major Psychiatric Disorders
Psychiatric disorders are the leading cause of disability worldwide while the pathogenesis remains unclear. Genome-wide association studies (GWASs) have made great achievements in detecting disease-related genetic variants. However, functional information on the underlying biological processes is often lacking. Current reports propose the use of metabolic traits as functional intermediate phenotypes (the so-called genetically determined metabotypes or GDMs) to reveal the biological mechanisms of genetics in human diseases. Here we conducted a two-sample Mendelian randomization analysis that uses GDMs to assess the causal effects of 486 human serum metabolites on 5 major psychiatric disorders, which respectively were schizophrenia (SCZ), major depression (MDD), bipolar disorder (BIP), autism spectrum disorder (ASD), and attention-deficit/hyperactivity disorder (ADHD). Using genetic variants as proxies, our study has identified 137 metabolites linked to the risk of psychiatric disorders, including 2-methoxyacetaminophen sulfate, which affects SCZ (P = 1.7 × 10–5) and 1-docosahexaenoylglycerophosphocholine, which affects ADHD (P = 5.6 × 10–5). Fourteen significant metabolic pathways involved in the 5 psychiatric disorders assessed were also detected, such as glycine, serine, and threonine metabolism for SCZ (P = .0238), Aminoacyl-tRNA biosynthesis for both MDD (P = .0144) and ADHD (P = .0029). Our study provided novel insights into integrating metabolomics with genomics in order to understand the mechanisms underlying the pathogenesis of human diseases.
Journal Article
Defining autism : a guide to brain, biology, and behavior
\"Drawing on the most up-to-date research on autism, this incisive book argues that while there are different causes and variations of autism, there is in fact one biological autism. By examining developmental and genetic factors and investigating lesser known autism-related syndromes, it clears away misconceptions surrounding this complex condition\"-- Back cover.
BOOK
The impact of sensory integration based sports training on motor and social skill development in children with autism spectrum disorder
Children with Autism Spectrum Disorder (ASD) often experience deficits in motor coordination, sensory processing, and social interaction, which hinder their participation in physical activities. While sensory integration-based interventions have shown promise, the specific impact of structured sports training incorporating sensory principles remains underexplored. This study evaluated the effects of a 12-week sensory integration-based sports training program on motor and social outcomes in children with ASD. Forty participants, aged 6–12, were randomly assigned to either an experimental group receiving sensory integration-based sports training or a control group engaged in standard physical activity. Motor coordination was assessed using the Bruininks-Oseretsky Test of Motor Proficiency (BOT-2), and social responsiveness was measured using the Social Responsiveness Scale (SRS-2). Weekly behavioral engagement was also recorded. Data were analyzed using paired t-tests and Cohen’s d for effect size. Participants in the intervention group demonstrated a significant 17.2-point increase in BOT-2 scores, reflecting improved motor coordination. SRS-2 scores decreased by 13.2 points, indicating enhanced social responsiveness. Participation rates in structured activities increased from 45 to 85% over the 12 weeks. Statistical analysis revealed a large effect size (Cohen’s d > 0.8) for both outcomes. Sensory integration-based sports training significantly improves motor and social functioning in children with ASD and offers a promising approach for therapeutic and educational rehabilitation programs.
Journal Article
Creativity and community among autism-spectrum youth : creating positive social updrafts through play and performance
\"This edited volume explores the roles of socially-channeled play and performance in the developmental trajectories of young people who fall on the autism spectrum. The contributors offer possibilities for channels of activity through which youth on the autism spectrum may find acceptance, affirmation, and kinship with others. \"Positive social updraft\" characterizes the social channels through which people of difference might be swept up into broader cultural currents such that they feel valued, appreciated, and empowered. These currents not only have an upward motion themselves, they also catch other elements in their draft and carry them up in their flow. A social updraft provides cultural meditational means that include people in a current headed \"upward,\" allowing people of atypical makeups to become fully involved in significant cultural activity that brings them a feeling of social belonging\"--The publisher.
Book
Microbiota Transfer Therapy alters gut ecosystem and improves gastrointestinal and autism symptoms: an open-label study
Background
Autism spectrum disorders (ASD) are complex neurobiological disorders that impair social interactions and communication and lead to restricted, repetitive, and stereotyped patterns of behavior, interests, and activities. The causes of these disorders remain poorly understood, but gut microbiota, the 10
13
bacteria in the human intestines, have been implicated because children with ASD often suffer gastrointestinal (GI) problems that correlate with ASD severity. Several previous studies have reported abnormal gut bacteria in children with ASD. The gut microbiome-ASD connection has been tested in a mouse model of ASD, where the microbiome was mechanistically linked to abnormal metabolites and behavior. Similarly, a study of children with ASD found that oral non-absorbable antibiotic treatment improved GI and ASD symptoms, albeit temporarily. Here, a small open-label clinical trial evaluated the impact of Microbiota Transfer Therapy (MTT) on gut microbiota composition and GI and ASD symptoms of 18 ASD-diagnosed children.
Results
MTT involved a 2-week antibiotic treatment, a bowel cleanse, and then an extended fecal microbiota transplant (FMT) using a high initial dose followed by daily and lower maintenance doses for 7–8 weeks. The Gastrointestinal Symptom Rating Scale revealed an approximately 80% reduction of GI symptoms at the end of treatment, including significant improvements in symptoms of constipation, diarrhea, indigestion, and abdominal pain. Improvements persisted 8 weeks after treatment. Similarly, clinical assessments showed that behavioral ASD symptoms improved significantly and remained improved 8 weeks after treatment ended. Bacterial and phagedeep sequencing analyses revealed successful partial engraftment of donor microbiota and beneficial changes in the gut environment. Specifically, overall bacterial diversity and the abundance of
Bifidobacterium
,
Prevotella
, and
Desulfovibrio
among other taxa increased following MTT, and these changes persisted after treatment stopped (followed for 8 weeks).
Conclusions
This exploratory, extended-duration treatment protocol thus appears to be a promising approach to alter the gut microbiome and virome and improve GI and behavioral symptoms of ASD. Improvements in GI symptoms, ASD symptoms, and the microbiome all persisted for at least 8 weeks after treatment ended, suggesting a long-term impact.
Trial registration
This trial was registered on the ClinicalTrials.gov, with the registration number
NCT02504554
Journal Article
The autists : women on the spectrum
An incisive and deeply candid account that explores autistic women in culture, myth, and society through the prism of the author's own diagnosis. Until the 1980s, autism was regarded as a condition found mostly in boys. Even in our time, autistic girls and women have largely remained invisible. When portrayed in popular culture, women on the spectrum often appear simply as copies of their male counterparts -- talented and socially awkward. Yet autistic women exist, and always have. They are varied in their interests and in their experiences. Autism may be relatively new as a term and a diagnosis, but not as a way of being and functioning in the world. It has always been part of the human condition. So who are these women, and what does it mean to see the world through their eyes? In The Autists, Clara Törnvall reclaims the language to describe autism and explores the autistic experience in arts and culture throughout history. From popular culture, films, and photography to literature, opera, and ballet, she dares to ask what it might mean to re-read these works through an autistic lens -- what we might discover if we allow perspectives beyond the neurotypical to take centre stage.
Book
Effect of intranasal oxytocin on the core social symptoms of autism spectrum disorder: a randomized clinical trial
Although small-scale studies have described the effects of oxytocin on social deficits in autism spectrum disorder (ASD), no large-scale study has been conducted. In this randomized, parallel-group, multicenter, placebo-controlled, double-blind trial in Japan, 106 ASD individuals (18–48 y.o.) were enrolled between Jan 2015 and March 2016. Participants were randomly assigned to a 6-week intranasal oxytocin (48IU/day, n = 53) or placebo (n = 53) group. One-hundred-three participants were analyzed. Since oxytocin reduced the primary endpoint, Autism Diagnostic Observation Schedule (ADOS) reciprocity, (from 8.5 to 7.7; P < .001) but placebo also reduced the score (8.3 to 7.2; P < .001), no between-group difference was found (effect size −0.08; 95% CI, −0.46 to 0.31; P = .69); however, plasma oxytocin was only elevated from baseline to endpoint in the oxytocin-group compared with the placebo-group (effect size −1.12; −1.53 to −0.70; P < .0001). Among the secondary endpoints, oxytocin reduced ADOS repetitive behavior (2.0 to 1.5; P < .0001) compared with placebo (2.0 to 1.8; P = .43) (effect size 0.44; 0.05 to 0.83; P = .026). In addition, the duration of gaze fixation on socially relevant regions, another secondary endpoint, was increased by oxytocin (41.2 to 52.3; P = .03) compared with placebo (45.7 to 40.4; P = .25) (effect size 0.55; 0.10 to 1.0; P = .018). No significant effects were observed for the other secondary endpoints. No significant difference in the prevalence of adverse events was observed between groups, although one participant experienced temporary gynecomastia during oxytocin administration. Based on the present findings, we cannot recommend continuous intranasal oxytocin treatment alone at the current dose and duration for treatment of the core social symptoms of high-functioning ASD in adult men, although this large-scale trial suggests oxytocin’s possibility to treat ASD repetitive behavior.
Journal Article
Comorbid conditions among children with autism spectrum disorders
\"This book presents the similarities and intersections between Autism Spectrum Disorders and comorbid conditions in children. It describes the prevalence and magnitude of comorbid conditions occurring in conjunction with ASD that complicate diagnosis and can potentially lead to inappropriate treatment and negative outcomes. It addresses the strengths and limitations of age-appropriate assessment measures as well as activity and motor skill measurement methods. Specific comorbid disorders are examined through the review of core symptoms, prognostic and diagnostic issues and treatment options for children on the ASD spectrum. Featured topics include: challenging behaviors in children with ASD; conditions ranging from feeding and gastrointestinal disorders to epilepsy; developmental coordination disorder (DCD); intellectual disability (ID); methods and procedures for measuring comorbid psychological, medical and motor disorders.\"-- Provided by publisher.
BOOK
Comprehensive Nutritional and Dietary Intervention for Autism Spectrum Disorder—A Randomized, Controlled 12-Month Trial
This study involved a randomized, controlled, single-blind 12-month treatment study of a comprehensive nutritional and dietary intervention. Participants were 67 children and adults with autism spectrum disorder (ASD) ages 3–58 years from Arizona and 50 non-sibling neurotypical controls of similar age and gender. Treatment began with a special vitamin/mineral supplement, and additional treatments were added sequentially, including essential fatty acids, Epsom salt baths, carnitine, digestive enzymes, and a healthy gluten-free, casein-free, soy-free (HGCSF) diet. There was a significant improvement in nonverbal intellectual ability in the treatment group compared to the non-treatment group (+6.7 ± 11 IQ points vs. −0.6 ± 11 IQ points, p = 0.009) based on a blinded clinical assessment. Based on semi-blinded assessment, the treatment group, compared to the non-treatment group, had significantly greater improvement in autism symptoms and developmental age. The treatment group had significantly greater increases in EPA, DHA, carnitine, and vitamins A, B2, B5, B6, B12, folic acid, and Coenzyme Q10. The positive results of this study suggest that a comprehensive nutritional and dietary intervention is effective at improving nutritional status, non-verbal IQ, autism symptoms, and other symptoms in most individuals with ASD. Parents reported that the vitamin/mineral supplements, essential fatty acids, and HGCSF diet were the most beneficial.
Journal Article