scholarly journals Effects of l-Carnitine in Patients with Autism Spectrum Disorders: Review of Clinical Studies

Molecules ◽  
2019 ◽  
Vol 24 (23) ◽  
pp. 4262 ◽  
Author(s):  
Michele Malaguarnera ◽  
Omar Cauli
Keyword(s):  
Clinical Trials ◽  
Autism Spectrum Disorders ◽  
Randomized Clinical Trials ◽  
Genetic Disorders ◽  
Prospective Trial ◽  
Autism Spectrum ◽  
Amino Acid Derivative ◽  
Current Evidence ◽  
Clinical Effects ◽  
Spectrum Disorders

Carnitine is an amino acid derivative, which plays several important roles in human physiology, in the central nervous system, and for mitochondrial metabolism, in particular. Altered carnitine metabolic routes have been associated with a subgroup of patients with autism spectrum disorders (ASD) and could add to the pathophysiology associated with these disorders. We review the current evidence about the clinical effects of carnitine administration in ASD in both non-syndromic forms and ASD associated with genetic disorders. Two randomized clinical trials and one open-label prospective trial suggest that carnitine administration could be useful for treating symptoms in non-syndromic ASD. The effect of carnitine administration in ASD associated with genetic disorders is not conclusive because of a lack of clinical trials and objectives in ASD evaluation, but beneficial effects have also been reported for other comorbid disorders, such as intellectual disability and muscular strength. Side effects observed with a dose of 200 mg/kg/day consisted of gastro-intestinal symptoms and a strong, heavy skin odor. Doses of about 50–100 mg/kg/day are generally well tolerated. Further clinical trials with the identification of the subgroup of ASD patients that would benefit from carnitine administration are warranted.

scholarly journals Autism Spectrum Disorders and the Gut Microbiota

Nutrients ◽  
2019 ◽  
Vol 11 (3) ◽  
pp. 521 ◽  
Author(s):  
Antonella Fattorusso ◽  
Lorenza Di Genova ◽  
Giovanni Dell’Isola ◽  
Elisabetta Mencaroni ◽  
Susanna Esposito
Keyword(s):  
Clinical Trials ◽  
Autism Spectrum Disorders ◽  
Gut Microbiota ◽  
Autism Spectrum ◽  
Current Evidence ◽  
Low Grade ◽  
Gut Dysbiosis ◽  
Children With Asd ◽  
Spectrum Disorders

In recent years, there has been an emerging interest in the possible role of the gut microbiota as a co-factor in the development of autism spectrum disorders (ASDs), as many studies have highlighted the bidirectional communication between the gut and brain (the so-called “gut-brain axis”). Accumulating evidence has shown a link between alterations in the composition of the gut microbiota and both gastrointestinal and neurobehavioural symptoms in children with ASD. The aim of this narrative review was to analyse the current knowledge about dysbiosis and gastrointestinal (GI) disorders in ASD and assess the current evidence for the role of probiotics and other non-pharmacological approaches in the treatment of children with ASD. Analysis of the literature showed that gut dysbiosis in ASD has been widely demonstrated; however, there is no single distinctive profile of the composition of the microbiota in people with ASD. Gut dysbiosis could contribute to the low-grade systemic inflammatory state reported in patients with GI comorbidities. The administration of probiotics (mostly a mixture of Bifidobacteria, Streptococci and Lactobacilli) is the most promising treatment for neurobehavioural symptoms and bowel dysfunction, but clinical trials are still limited and heterogeneous. Well-designed, randomized, placebo-controlled clinical trials are required to validate the effectiveness of probiotics in the treatment of ASD and to identify the appropriate strains, dose, and timing of treatment.

scholarly journals Acupuncture for Treatment of Autism Spectrum Disorders

2012 ◽  
Vol 2012 ◽  
pp. 1-10 ◽  
Author(s):  
Xue Ming ◽  
Xiang Chen ◽  
Xiao T. Wang ◽  
Zhen Zhang ◽  
Victor Kang ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Autism Spectrum Disorders ◽  
Literature Review ◽  
Acupuncture Treatment ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Experimental Designs ◽  
Efficacy And Safety ◽  
Spectrum Disorders ◽  
Double Blinded

Background. There has been lack of reviews of evidence on efficacy, methodology, and/or safety of acupuncture in autism spectrum disorders. This paper examines the emerging evidence of the effects of acupuncture in the treatment of autistic children.Method. A literature review was completed via Medline and three Chinese search engines. A total of 31 studies were evaluated for acupuncture methodology, study design, treatment effects, and tolerability.Results. The acupoints used, the duration of needling, the frequency of treatment, the choice of stimulation, and the course of the treatment were highly variable amongst the studies. Behavioral and/or developmental improvements were reported in all acupuncture treatment studies. All studies reported general tolerability. Weakness of experimental designs was discussed.Conclusions. Vigorously controlled double-blinded clinical trials are needed to evaluate the efficacy and safety of acupuncture in children with autism spectrum disorders.

scholarly journals Outcome Measures for Clinical Drug Trials in Autism

CNS Spectrums ◽  
2004 ◽  
Vol 9 (1) ◽  
pp. 36-47 ◽  
Author(s):  
Michael G. Aman ◽  
Sherie Novotny ◽  
Carole Samango-Sprouse ◽  
Luc Lecavalier ◽  
Elizabeth Leonard ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Side Effects ◽  
Randomized Clinical Trials ◽  
Vital Signs ◽  
Autism Spectrum ◽  
Spectrum Disorders ◽  
Age Range ◽  
Clinical Drug ◽  
Cognitive Data ◽  
Core Features

ABSTRACTThis paper identifies instruments and measures that may be appropriate for randomized clinical trials in participants with autism spectrum disorders (ASDs). The Clinical Global Impressions scale was recommended for all randomized clinical trials. At this point, however, there is no “perfect” choice of outcome measure for core features of autism, although we will discuss five measures of potential utility. Several communication instruments are recommended, based in part on suitability across the age range. In trials where the intention is to alter core features of ASDs, adaptive behavior scales are also worthy of consideration. Several “behavior complexes” common to ASDs are identified, and instruments are recommended for assessment of these. Given the prevalence of cognitive impairment in ASDs, it is important to assess any cognitive effects, although cognitive data from ASD randomized clinical trials, thus far, are minimal. Guidance from trials in related pharmacologic areas and behavioral pharmacology may be helpful. We recommend routine elicitation of side effects, height and weight, vital signs, and (in the case of antipsychotics) extrapyramidal side-effects assessment. It is often appropriate to include laboratory tests and assessments for continence and sleep pattern.

scholarly journals On the mechanisms of the occurrence of autism spectrum disorders: a family case report

2020 ◽  
Vol 18 (2) ◽  
pp. 32-40
Author(s):  
S.A. Tyushkevich ◽  
U.A. Mamokhina ◽  
K.K. Danilina ◽  
D.S. Pereverzeva ◽  
K.R. Salimova ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Developmental Disorders ◽  
Genetic Disorders ◽  
Autism Spectrum ◽  
Chromosome 8 ◽  
Early Postnatal Ontogenesis ◽  
Genome Features ◽  
Family Case ◽  
Spectrum Disorders ◽  
Developmental Features

Currently, more than 1000 genes described in which mutations are observed in autism spectrum disorders. Neurobiological predictors have been found to presume these abnormalities in early postnatal ontogenesis. However, the mechanisms of the occurrence of these genetic abnormalities remain unclear. This is connected to the particular interest in the description of family cases in which ASD in combination with various genome features are observed. The data of a five-year comprehensive psychological and neurophysiological study of three siblings with various developmental features and genetic disorders inherited from the father are presented. The results revealed that all children showed an increase in altered chromosome regions inherited from their father. However, only in the case of an increase in repeats in chromosome 8, autism spectrum disorder was diagnosed in a child. Changes in the Y chromosome, apparently, are not associated with detected developmental disorders in two other children.

scholarly journals Minor physical anomalies in children with autism spectrum disorders

Autism ◽  
2011 ◽  
Vol 15 (6) ◽  
pp. 746-760 ◽  
Author(s):  
Kathleen Angkustsiri ◽  
Paula Krakowiak ◽  
Billur Moghaddam ◽  
Terrance Wardinsky ◽  
Jerald Gardner ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Genetic Disorders ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Diagnostic Group ◽  
Typical Development ◽  
Clinical Heterogeneity ◽  
Children With Asd ◽  
Spectrum Disorders ◽  
Minor Physical Anomalies

Objective: There is clinical heterogeneity among the autism spectrum disorders (ASD). The presence of dysmorphology (minor physical anomalies; MPAs) is one possible tool for defining a clinically relevant subset in ASD. This study employs an adaptation of Miles and Hillman’s (2000) classifications by using photographs to identify a subgroup with significant dysmorphology among children with ASD, typical development (TYP), and developmental delay (DD). Method: Children with ASD, DD, and TYP between 2 and 5 years old were part of the CHARGE Study. Pediatric specialists blinded to diagnostic group classified photographs based on the number of MPAs present: ‘dysmorphic’ if >3 and ‘nondysmorphic’ if <3 MPAs. Results: Photographs for 324 children were included. Significantly more children with ASD were classified as dysmorphic compared to TYP children ( p = .007). In children with ASD, seizures were more prevalent in those rated dysmorphic ( p = .005). Frequencies were similar between ASD versus DD ( p = .19) after removing those with known syndromes. Conclusion: Photographic assessment can be used to detect generalized dysmorphology in children who are often difficult to examine. This has clinical relevance, as children with multiple MPAs can be identified through the use of photographs and prioritized for investigation of brain abnormalities and underlying genetic disorders.

The Role of Serotonin in Autism-Spectrum Disorders

CNS Spectrums ◽  
1997 ◽  
Vol 2 (5) ◽  
pp. 25-42 ◽  
Author(s):  
Marc N. Potenza ◽  
Christopher J. Mcdougle
Keyword(s):  
Clinical Trials ◽  
Autism Spectrum Disorders ◽  
Pervasive Developmental Disorders ◽  
Developmental Disorders ◽  
Autism Spectrum ◽  
Adolescents And Adults ◽  
Spectrum Disorders ◽  
Serotonergic Dysfunction

AbstractWhile the etiologies of pervasive developmental disorders (PDDs) appear complicated, multifactorial, and relatively poorly understood research over the last 30 to 40 years has implicated certain neurochemicals in the pathophysiology of these diseases. From these studies, a great deal of evidence has emerged supporting a role for serotonergic dysfunction in individuals with autism and related disorders. Recent clinical trials of drugs influencing serotonergic systems have demonstrated promising effects in children, adolescents, and adults with PDDs.

scholarly journals Biological implications of genetic variations in autism spectrum disorders from genomics studies

2021 ◽  
Author(s):  
Yue Zhang ◽  
Xuanshi Liu ◽  
Ruolan Guo ◽  
Wenjian Xu ◽  
Qi Guo ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Gene Mutations ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Current Evidence ◽  
Restricted Interests ◽  
Coding Regions ◽  
Spectrum Disorders

Autism spectrum disorders (ASD) is a highly heterogeneous neurodevelopmental condition characterized by atypical social interaction and communication together with repetitive behaviors and restricted interests. The prevalence of ASD has been increased these years. Compelling evidence has shown that genetic factors contribute largely to the development of ASD. However, knowledge about its genetic etiology and pathogenesis is limited. Broad applications of genomics studies have revealed the importance of gene mutations at protein-coding regions as well as the interrupted non-coding regions in the development of ASD. In this review, we summarize the current evidence for the known molecular genetic basis and possible pathological mechanisms as well as the risk genes and loci of ASD. Functional studies for the underlying mechanisms are also implicated. The understanding of the genetics and genomics of ASD is important for the genetic diagnosis and intervention for this condition.

Targeted Biomedical Treatment for Autism Spectrum Disorders

2020 ◽  
Vol 25 (41) ◽  
pp. 4430-4453 ◽  
Author(s):  
Iliyana Pacheva ◽  
Ivan Ivanov
Keyword(s):  
Autism Spectrum Disorders ◽  
Mitochondrial Dysfunction ◽  
Clinical Utility ◽  
Immune Dysregulation ◽  
Autism Spectrum ◽  
Current Evidence ◽  
Positive Effects ◽  
Tnf Α ◽  
Spectrum Disorders ◽  
Biomedical Treatment

Background: A diagnosis of autism spectrum disorders (ASD) represents presentations with impairment in communication and behaviour that vary considerably in their clinical manifestations and etiology as well as in their likely pathophysiology. A growing body of data indicates that the deleterious effect of oxidative stress, mitochondrial dysfunction, immune dysregulation and neuroinflammation, as well as their interconnections are important aspects of the pathophysiology of ASD. Glutathione deficiency decreases the mitochondrial protection against oxidants and tumor necrosis factor (TNF)-α; immune dysregulation and inflammation inhibit mitochondrial function through TNF-α; autoantibodies against the folate receptors underpin cerebral folate deficiency, resulting in disturbed methylation, and mitochondrial dysfunction. Such pathophysiological processes can arise from environmental and epigenetic factors as well as their combined interactions, such as environmental toxicant exposures in individuals with (epi)genetically impaired detoxification. The emerging evidence on biochemical alterations in ASD is forming the basis for treatments aimed to target its biological underpinnings, which is of some importance, given the uncertain and slow effects of the various educational interventions most commonly used. Methods: Literature-based review of the biomedical treatment options for ASD that are derived from established pathophysiological processes. Results: Most proposed biomedical treatments show significant clinical utility only in ASD subgroups, with specified pre-treatment biomarkers that are ameliorated by the specified treatment. For example, folinic acid supplementation has positive effects in ASD patients with identified folate receptor autoantibodies, whilst the clinical utility of methylcobalamine is apparent in ASD patients with impaired methylation capacity. Mitochondrial modulating cofactors should be considered when mitochondrial dysfunction is evident, although further research is required to identify the most appropriate single or combined treatment. Multivitamins/multiminerals formulas, as well as biotin, seem appropriate following the identification of metabolic abnormalities, with doses tapered to individual requirements. A promising area, requiring further investigations, is the utilization of antipurinergic therapies, such as low dose suramin. Conclusion: The assessment and identification of relevant physiological alterations and targeted intervention are more likely to produce positive treatment outcomes. As such, current evidence indicates the utility of an approach based on personalized and evidence-based medicine, rather than treatment targeted to all that may not always be beneficial (primum non nocere).

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