Epidermal growth factor receptor (EGFR) gene and Hepatocyte Growth Factor Receptor gene, c-Met, are proto-oncogenes which code for cell-surface tyrosine kinase receptors, EGFR and hepatocyte growth factor (HGF), respectively. These membrane receptors are stimulated by ligands, epidermal growth factor (EGF) and hepatocyte growth factor (HGF), and then, through a cascade of reactions, regulate several important cell events such as growth, motility, and morphogenesis. This editorial presents a cursory look at the evidence that these proto-oncogenes, and their products, are involved in the etiology of neurobehavioral disorders, such as autism.
Since the publication of Leo Kanner’s seminal paper in 1943, there has been essentially no definitive light shed on the cause, prevention or cure of autism. It is our contention that the reason lies, at least in part, with the original psychiatric conceptualization of the condition and the subsequent acceptance of this framework by health professionals ever since. We suggest an urgent revision of autism as a disease state such that its operationalization in major diagnostic systems such as the Diagnostic and Statistical Manual of Mental Disorders and International Classification of Diseases recognizes the biological variables known to be associated with autism.
This qualitative study investigated the experiences of adolescents and young adults (16 to 21 years old) diagnosed with an autism spectrum disorder (ASD) and co-occurring depression and/or anxiety disorders. The study was conducted with 9 parents of individuals with ASD and 4 individuals diagnosed with ASD and co-occurring anxiety and/or depression. The study used open-ended, online and face-to-face interviews and yielded rich data associated with a number of broad categories. This paper focuses on associated school-related issues; medical and initial diagnosis and community services. The participants provided valuable information about navigating school environments, programming needs, prevention of victimization, and mental health issues in individuals with ASD. The results suggest the need for mindful planning and programming for individuals diagnosed with ASD, as well as the need for awareness of the characteristics and programming associated with autism.
The amount of medical literature describing autism spectrum disorder has become a real challenge as the quantity of abstracts deposited in PubMed digital library is constantly growing. Because the major manifestation of autism spectrum disorder (ASD) is impairment in language acquisition and communication, we used primary key words “autism” and “language acquisition” to retrieve the relevant literature from PubMed digital library and annotated a collection of 274 abstracts (from December 2008 to 1976) using Knowtator. The objective was to locate secondary key words which in combination with primary key words would enable one to make information retrieval on language development in autism more specific and focused. The discussion provides a brief description of some selected terms and compares language impairment in autism with normal language development.Conclusion: By using the combination of key words one is able to effectively manage the information retrieval and make the research less time consuming.
Objectives: Several studies have previously indicated that children with autism often have abnormalities in methylation, glutathione redox, and mitochondrial function. A common feature of these abnormalities is that they are affected directly or indirectly by levels of ribose, reduced Nicotinamide Adenine Dinucleotide (NADH), reduced Nicotinamide Adenine Dinucleotide Phosphate (NADPH), and Adenosine-5′-triphosphate (ATP). The objective of this study was to investigate the possible biochemical effect of ribose therapy and NADH therapy on children with autism.Design: In a pilot study, ribose was administered orally to eight children with autism for two weeks, and NADH was administered orally to another group of eight children with autism for two weeks. Children were ages 3–9 years with clinical symptoms of low energy and/or low muscle tone. Eighteen biomarkers related to methylation (including S-adenosylmethionine (SAM)), glutathione (including the reduced form, GSH, and the oxidized form GSSG), adenosine triphosphate (ATP), and folic acid and were measured at the beginning and end of the therapy.Results: The NADH group had significant improvements in levels of ribose-5-phosphate, GSH, NADH, NADPH, and SAM. The Ribose group had significant improvements in ribose-5-phosphate, NADH, ATP, and folic acid. There was no significant change in GSSG in either group after two weeks.Conclusions: This small study suggests that both NADH and Ribose therapy results in some improvements in biochemistry, and may be beneficial for treating children with those abnormalities. Larger studies are recommended.
In the past five years, there has been a noticeable increase in the number of publications addressing the issues of autism spectrum disorders (ASDs) in the domain of adulthood and aging. However this increase still represents an extremely small proportion of the overall literature which is predominantly focused on autism in the childhood and adolescence stages of development. The purpose of this paper is to present results from a systematic literature review covering the timeframe of 1990 to 2013 (including advance online publications). Five data bases were queried at the intersection of ASD in the domain of adulthood and aging. Using “ASD” and “adulthood and aging” as the two primary foci, we had several objectives: (1) to conduct an exhaustive and comprehensive review of the literature; (2) to determine emergent sub-themes from the comprehensive review of publications; (3) to identify the top exemplar articles per emergent theme; (4) to establish an emergent theme that had the greatest number of publications; (5) to document three journals that most frequently publish articles exploring ASDs, adulthood and aging. This review is different than previous reviews in that: (a) it emphasizes intergenerational factors; (b) it stresses multidisciplinary perspectives; (c) it is life-course oriented; and (d) we review the promise and potential of neurodiversity and highlight the abilities and capabilities possible for individuals with ASDs into adulthood and aging.
Background: Children with developmental disorders experience chronic gastrointestinal symptoms.Aims: To examine the nature of these gastrointestinal symptoms and histologic findings in children with autism spectrum/developmental disorders and ileocolonic disease.Methods: Chart review. 143 autism spectrum/developmental disorder patients, with chronic gastrointestinal symptoms, undergoing diagnostic ileocolonoscopy.Results: Diarrhea was present in 78%, abdominal pain in 59% and constipation in 36%. Ileal and/or colonic lymphonodular hyperplasia (LNH), defined as the presence of an increased number of enlarged lymphoid follicles, often with hyperactive germinal centers, was present in 73.2%. Terminal ileum LNH presented visually in 67% and histologically in 73%. Colonic LNH was multifocal and presented histologically in 32%. Ileal and/or colonic inflammation presented in 74%, consisting primarily of active or chronic colitis (69%). Ileal inflammation presented in 35%. Presence of LNH significantly predicted mucosal inflammation. Patients with ileal and/or colonic LNH had lower mean/median age than those without; patients with ileal and/or colonic inflammation had lower mean/median age than those without. There was a significant association between ileo and/or colonic inflammation or LNH, and onset of developmental disorder; plateaued or regressive onset conferred greater risk than early onset.Conclusions: Patients with autism or related disorders exhibiting chronic gastrointestinal symptoms demonstrate ileal or colonic inflammation upon light microscopic examination of biopsy tissue. Further work is needed to determine whether resolution of histopathology with appropriate therapy is accompanied by GI symptomatic and cognitive/behavioral improvement.Note: An expression of concern in respect to this paper was published on 16 March 2011 and is available here: Autism Insights 2011:3 1. DOI: 10.4137/AUI.S7027.
This study was a retrospective survey investigating the association between prenatal stress and risk factors of Autism Spectrum Disorders (ASD) in a Chinese population. Twenty-eight mothers of children diagnosed with ASD, and thirty-eight mothers of children with no diagnoses of neurodevelopmental diseases were interviewed. The survey analyzed the incidence and intensity of prenatal stress, birth conditions and developmental problems of children, maternal health conditions, and the participants' coping strategies towards prenatal stress. Higher overall prenatal stress intensity and incidence were found to be experienced by mothers of ASD children. Mothers with ASD children also showed higher incidence of premature deliveries, birth complications, health problems, maternal illnesses, advanced maternal age, and other developmental problems with their children.
Objective: The purpose of this study was to determine if behaviors specifically related to sensory modulation showed positive changes following 10 days of Berard auditory integration training (AIT). Method: Cases of 54 children with disabilities (34 with autism), ages 3–10 years, who received Berard AIT, were reviewed. Children received 30 minutes of training twice a day, separated by a minimum of three hours, for 10 consecutive days. Data were collected within one week before intervention and at one, three, and six months post-intervention. Results: Analysis of variance (ANOVA) indicated that Short Sensory Profile (SSP) total test scores and individual factor sections improved from pre-test to post-test (P , 0.01). Behavioral problems reduced on all five factors of the Aberrant Behavior Checklist (ABC) (P , 0.01). Most changes occurred within one month of intervention and maintained at three and six months. Correlations among the ABC and SSP factors indicate that sensory modulation as measured by the SSP is a significant contributor to four of the behavioral factors measured by the ABC. Conclusions: Although causality cannot be determined using this study design, scores on the SSP and ABC improved in a group of children who received Berard AIT.