Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Proton magnetic resonance spectroscopy (MRS) revealed a distinct resonance at 3.15 ppm in the brain of a 5-year-old male diagnosed with autism. The resonance assignment is attributable to ingestion of methylsulfonylmethane (MSM) as a dietary supplement. Glucosamine with MSM is marketed as a source of dietary sulfur and treatment of joint pain. Recognition of this chemical on brain proton MRS as an exogenous compound is necessary to avoid confusion as a pathologic metabolite of pediatric metabolic disease.
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PMID:Methylsulfonylmethane observed by in vivo proton magnetic resonance spectroscopy in a 5-year-old child with developmental disorder: effects of dietary supplementation. 1243 21

This case report describes an alternative method for reducing bruxism in a special needs patient who was not a candidate for an intraoral appliance. Bruxism is often seen in patients with special needs and can result in excessive dental wear, temporo-mandibular joint pain, avulsion of teeth and other problems. Current methods of management are not typically effective in this population because most require patient compliance. An 11-year-old male diagnosed with autism and Bannayan-Zonana syndrome received bilateral injections of botulinum toxin type-A (Botox Allergan Pharmaceuticals, Irvine CA) in the masseter muscle. The patient's condition was followed up via post-operative telephone interviews with the parents for 60 days. A reduction in the frequency and severity of bruxism was reported. The only side effects noted were soreness at the injection site and mild, temporary drooling. Although further research is required to determine the optimal doses and injection frequency, botulinum toxin type-A appears to be an alternative method for controlling bruxism in the special needs population.
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PMID:The use of botulinum toxin-a in the treatment of severe bruxism in a patient with autism: a case report. 1670 33

This paper proposes that some children with an autism spectrum disorder (ASD) in the United States have undiagnosed Lyme disease and different testing criteria used by commercial laboratories may be producing false negative results. Two testing protocols will be evaluated; first, the Centers for Disease Control (CDC) and Infectious Disease Society of America (IDSA) approved two-tiered Enzyme Immunoassay (EIA) or Immunofluorescence Assay (IFA) followed by an IgM and/or IgG Western Blot test. Second, a clinical diagnosis (flu like symptoms, joint pain, fatigue, neurological symptoms, etc.) possibly followed by a Western Blot with a broader criteria for positive bands [1]. The hypothesis proposes that the former criteria may be producing false negative results for some individuals diagnosed with an ASD. Through an online survey parents of 48 children who have a diagnosis of an ASD and have been diagnosed with Lyme disease were asked to fill out the Autism Treatment Evaluation Checklist (ATEC) before they started antibiotic therapy and after treatment. Of the 48 parents surveyed 45 of them (94%) indicated their child initially tested negative using the two-tiered CDC/IDSA approved test. The parents sought a second physician who diagnosed their child with Lyme disease using the wider range of Western Blot bands. The children were treated with antibiotics and their scores on the ATEC improved. Anecdotal data indicated that some of the children achieved previously unattained developmental milestones after antibiotic therapy began. Protein bands OSP-A and/or OSP-B (Western Blot band 31) and (Western Blot band 34) were found in 44 of 48 patients. These two bands are so specific to Borrelia burgdorferi that they were targeted for use in vaccine trials, yet are not included in the IDSA interpretation of the Western Blot.
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PMID:Divergent opinions of proper Lyme disease diagnosis and implications for children co-morbid with autism spectrum disorder. 2498 3

In modern times scurvy is a rarely encountered disease caused by ascorbic acid (vitamin C) deficiency. However, sporadic cases of scurvy persist, particularly within the pediatric population. Recent individual case reports highlight an increased incidence of scurvy among patients with autism or developmental delay, with isolated case reports detailing the magnetic resonance imaging (MRI) findings of scurvy in these pediatric populations. We present the MRI findings of scurvy in four patients with autism or developmental delay, and review the literature on MRI findings in pediatric patients with scurvy. Despite its rarity, the radiologist must consider scurvy in a pediatric patient with a restricted diet presenting with arthralgia or myalgia.
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PMID:MRI findings in pediatric patients with scurvy. 2510 78