Autism in the Son of a Woman with Mitochondrial Myopathy and Dysautonomia: A Case Report

Conclusion Given emerging evidence that mitochondrial dysfunction, particularly in the electron transport chain needed for cellular energy production, is an underlying pathophysiological mechanism for some varieties of ASD, clinicians should have a high index of suspicion for mitochondrial disease, especially when they encounter a patient with unusual neurological or constitutional symptoms. The prevalence of mitochondrial disease in ASD patients may be as high as five percent, which means that it is not the “zebra”[27] diagnosis that it might be in a non-ASD patient, where prevalence is about 0.01 percent.10 References 1. American Psychiatric Association. The Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision. Washington, DC: American Psychiatric Press Inc.; 2001. 2. American Psychiatric Association. The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition. Washington, DC: American Psychiatric Press Inc.; 2013. 3. Tordjman S, Somogyi E, Coulon N, et al. Gene?×?Environment interactions in autism spectrum disorders: role of epigenetic mechanisms. Front Psychiatry. 2014;5:53. 4. Persico AM, Napolioni V. Autism genetics. Behav Brain Res. 2013;251:95-112. 5. Durdiaková J, Warrier V, Baron-cohen S, Chakrabarti B. Single nucleotide polymorphism rs6716901 in SLC25A12 gene is associated with Asperger syndrome. Mol Autism. 2014;5(1):25. 6. Abbott JA, Francklyn CS, Robey-bond SM. Transfer RNA and human disease. ...
Source: Innovations in Clinical Neuroscience - Category: Neuroscience Authors: Tags: Anxiety Disorders Asperger's syndrome Autism Behavioral and Cognitive Neurology Case Report Current Issue Intellectual Disability Neurologic Systems and Symptoms Pervasive Developmental Disorders ASD autism spectrum disorder dysauton Source Type: research

Related Links:

Publication date: November 2019Source: Fish &Shellfish Immunology, Volume 94Author(s): Jing Wang, Jia-Jia Du, Biao Jiang, Run-Zhen He, An-Xing LiAbstractShort-term feed deprivation or fasting is commonly experienced by aquaculture fish species and may be caused by seasonal variations, production strategies, or diseases. To assess the effects of fasting on the resistance of Nile tilapia to Streptococcus agalactiae infection, vaccinated and unvaccinated fish were fasted for zero, one, three, and seven days prior to infection. The cortisol levels of both vaccinated and unvaccinated fish first decreased and then increased ...
Source: Fish and Shellfish Immunology - Category: Biology Source Type: research
ConclusionIn our study, the Met-allele was associated with higher stress levels. To the best of our knowledge, this is the first study investigating this area. The findings from this study should trigger more investigators to focus on the impact of stress, due to the potential effects of these genes, on medical students.
Source: Journal of Taibah University Medical Sciences - Category: Universities & Medical Training Source Type: research
ConclusionsPhysicians should be alert of this tumor despite its rarity because diagnostic delays increase mortality. In this report, we summarize the features that differentiate PPAS from PE and the importance of imaging in diagnosing the tumor.
Source: International Journal of Surgery Case Reports - Category: Surgery Source Type: research
In an attempt to keep the main University of Michigan thread on topic and avoid the spamming that we saw last week, I have made this thread for all of our neuroticism and anxiety to be redirected to. I will lock this thread Monday evening and I will unlock it the following Sunday. @EmbryonalCarcinoma @Doctors' Docta @pagingdocopp @Jappa @peanutbuttah @premedpower8484848... Round 14 - 2019-2020 #UMichMedMonday thread
Source: Student Doctor Network - Category: Universities & Medical Training Authors: Tags: Pre-Medical - MD Source Type: forums
Publication date: Available online 12 October 2019Source: Multiple Sclerosis and Related DisordersAuthor(s): Shahin Khayambashi, Amber Salter, Tuula Tyry, Gary R Cutter, Robert J Fox, Ruth Ann MarrieAbstractObjectiveWe aimed to determine the association between gender identity and sexual orientation on healthcare-related utilization in persons with multiple sclerosis (MS), as well as satisfaction with their doctor and comfort discussing sexual health with their doctor.MethodsWe surveyed participants from the North American Research Committee on Multiple Sclerosis (NARCOMS) Registry regarding their gender identity and sexua...
Source: Multiple Sclerosis and Related Disorders - Category: Neurology Source Type: research
ConclusionsAlpha-synchronized rTMS of left DLPFC is feasible, safe and has specific single-session neuromodulatory effects in patients with antidepressant-resistant MDD. Future studies need to further elucidate the mechanisms, optimize the parameters and investigate the therapeutic potential and efficacy of brain oscillation-synchronized rTMS in MDD.
Source: Brain Stimulation - Category: Neurology Source Type: research
This study aimed to compare short- and long-term results for patients undergoing either aortic valve-sparing reimplantation (David) procedure (AVr-D) or biological aortic root replacement (Bentall) procedure (ARr-B-bio) for aortic root pathology.MethodsWe compared outcomes for patients who underwent AVr-D (n = 261) or ARr-B-bio (n = 150) between 2000 and 2015 at our institution. The mean age of patients was 55 ± 13 years and 21.7% (n = 89) were female. ARr-B-bio patients were significantly older than AVr-D patients (58 ± 10 vs 53&thins...
Source: Indian Journal of Thoracic and Cardiovascular Surgery - Category: Cardiovascular & Thoracic Surgery Source Type: research
João A. P. Coutinho It was recently shown that tetramethylammonium chloride presented negative deviations to ideality when mixed with tetraethylammonium chloride or tetrapropylammonium chloride, leading to a strong decrease of the melting points of these salt mixtures, in a behavior akin to that observed in the formation of deep eutectic solvents. To better rationalize this unexpected melting point depression between two structurally similar compounds devoid of dominant hydrogen bonding capability, new solid–liquid equilibria data for tetramethylammonium-based systems were measured and analyzed in this...
Source: Molecules - Category: Chemistry Authors: Tags: Article Source Type: research
ConclusionsThis case series demonstrates that the use of a high frequency jet ventilator for cardiac MRI was feasible, safe, providing good quality cardiac imaging and avoiding anesthesia personnel to be inside the hazardous environment of MRI room. Future studies are needed to confirm its safety and efficiency in pediatric patients.ResumoJustificativa e objetivosA ressonância magnética (RM) cardíaca é uma técnica utilizada na avaliação de crianças com cardiopatias congênitas. A anestesia geral garante imobilidade, especialmente em pacientes não cooperador...
Source: Brazilian Journal of Anesthesiology - Category: Anesthesiology Source Type: research
Publication date: Available online 12 October 2019Source: Journal of Psychiatric ResearchAuthor(s): Patrick J.F. Clarke, Brodie F. Sprlyan, Colette R. Hirsch, Frances Meeten, Lies NotebaertAbstractWhile considerable experimental research has examined the impact of transcranial direct current stimulation (tDCS) on a range of cognitive processes associated with emotional pathology, the impact of tDCS on worry has been comparatively neglected. Given that anxiety pathology is characterised by motivated engagement in worry, and that frontal tDCS has the capacity to enhance goal-oriented cognition, it is important to examine whe...
Source: Journal of Psychiatric Research - Category: Psychiatry Source Type: research
More News: Academia | Addison's Disease | ADHD | Adrenal Insufficiency | Anxiety | Arrhythmia | Asperger's Syndrome | Ataxia | Atenolol | Atrial Fibrillation | Audiology | Autism | Brain | Cardiology | Cataracts | Celexa | Child Abuse | Child Development | Children | Cholesterol | Citalopram | Databases & Libraries | Depression | Disability | Electrocardiogram | Emergency Medicine | Environmental Health | Epilepsy | Fluoxetine | Fortamet | Gene Therapy | Genetics | Health | Heart | Hyperactivity | Hypothyroidism | Insurance | Insurers | Laboratory Medicine | Men | Metformin | Mitochondria | Mitochondrial Disease | MRI Scan | Neurology | Neuroscience | Nutrition | Opthalmology | Patent Foramen Ovale | Pathology | Phenytoin | Prozac | Psychiatry | Respiratory Medicine | Rheumatology | Risperdal Consta | Science | Sertraline | Sleep Apnea | Sleep Disorders | Sleep Medicine | Sports Medicine | Statin Therapy | Statistics | Stroke | Study | Substance Abuse | Substance Abuse Disorders | Suicide | Toxicology | Vitamins | Wikis | Zoloft