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Autism and Autism spectrum disorders are neurodevelopmental disorders which are characterized by dysfunction in social interaction and communication skills other than vendor repetitive verbal and nonverbal behaviour. Frequency of these orders is reported in paediatric prevalence is between 1991-1997 is 56% which raised until 60 cases per 10000 children, according to the reports of centre for disease control. The Definite mechanism physiology autism is still unclear resulting in a condition where there is no effective drug for treatment of ASD. the existing treatments only treat behavioural, nutritional or pharmacological options until a standard will be discovered.
Pharmacological approaches target only neuropsychiatric paths of ASD. Alternative and complementary treatment methods reviewed through medical literature, herbal remedies vitamins minerals therapy and elimination diet never get much acceptance. when researchers started to find effective interventions for behavioural and social dysfunction it served to be an effective one
Autism spectrum disorders (ASD) are neurodevelopmental dysfunctional, which includes Autism, Asperger’s syndrome and Pervasive developmental disorder not otherwise specific (PDD-NOS).
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Gastrointestinal disorders are significantly marked in autism symptoms like diarrhoea, constipation bloating and gastroesophageal reflux. Unbalanced Gastrointestinal microbiota will cause many health issues in autistic patients. Gastrointestine contain higher number of species of clostridia bacteriodites, and disulfovibrio sutteralla species and lower level of firmicuta as compared with healthy individuals. it is also believed that regressive autism is due to the overgrowth of some balls. The metabolic products like phenol, p-cresol, indole derivatives are produced by clostridium species are highly toxic to humans because of this higher concentration of clostridium species in autistic patients is also a reason for autistic symptomology.
In one of the studies, microbial diversity in gastrointestinal of autistic person and normal person where analysed using three different methods. Abundance based coverage estimation ACE, the Chao1 estimation of species diversity and rarefaction. From this analysis they concluded that, there is a significantly increased diversity of microbiome is present in the autistic children as compared to normal children. Bacteroidetes and Firmicutes are most abundant and important phyla obtained. The metabolic biproducts of this organism includes propionic acid and other short chain fatty acids. They also explain that, these compounds can induce biological, chemical and pathologic changes as similar to autistic person when it is injected in cerebral ventricles.
Traditional treatments for ASD involve medication with antiepileptic drugs (AEDs), traditional non-AED treatment, Surgery, Immunomodulatory treatment, neurofeedback treatment. Several genetic and metabolic syndromes are associated with autism spectrum disorders so some treatments are there for improving specific syndromes associated with it. In a research anti epileptical drugs (AEDs) examined in controlled trials in ASD patients showed that valproate, lamotrigine and leveltiracetam are most effective and tolerable AEDs. From studies, it is found effective in irritability in ASD since it has a capacity of enhancing GABA mechanism. Some of the evidences support that traditional non-AEDs for ASD for example ketogenic diet and modified Atkins diet are able to overcome the drawbacks of AEDs. Mitochondrial disease and dysfunction are related to ASD which are treated with L-carnitine, multi- vitamins and N-acetyl-L-cysteine. Early treatment with vigabatrin in TSC (Tuberous Sclerosis Complex), folic acid for cerebral folate abnormalities. AEDs improve seizure but worsened other clinical factors such as mood, sleep, attention, behaviour and communication. In a study of Rette syndrome, one of the ASDs, using adult wild type and mutant mice fed with ketogenic diet exhibit more efficiency in reducing anxiety and improve motor behaviour (Mantis JG et al). Several antiepileptical drugs such as valproic acid influence mitochondrial oxidative phosphorylation (Berger I et al), they also concluded these drugs can affect different mitochondrial pathways. Usage of multiple AEDs may have greater risk for carnitine deficiency which involved in metabolism of long chain fatty acid, acetyl coenzyme A. Another ASD, Fragile X syndrome, a study reveals that taurine supplemented mouse model shows improvement in congestive functions, memory acquisition and retention. Though there are many traditional treatment methods for ASDs, most of them are insufficient to treat all symptoms and that are explicited by autism spectrum disorders. Novel treatment methods using magnesium pyridoxine, omega-3-fatty acids, the gluten free casein- free diet, low frequency repetitive transcranial magnetic simulation etc. for diminishing the effect of seizure associated with ASDs and supporting the quality of treatment, theses novel methods strickingly lack clinical trials performe.
Gene therapy offers promising alternative two conventional small molecule therapies. Preclinical studies over the last 5 years using animal models displaying autism like trace have demonstrated that directly altering gene expression using rAAV-delivered transgenes can reverse the behavioural phenotypes either via gene replacement or RNA knock down such studies establish proof of concept and set up the platform for clinical translation in various monogenic ASDs, Gene therapy have already started to impact in human diseases particularly neurogenic diseases gene therapy treatment which helps to understand common dysregulated pathways in ASD
Gene therapy has excellent potential address cognitive dysfunction in aSD. Many of the encoded proteins in ASD pathogenesis implicated cell adhesion molecules and dNA binding proteins may not be used as drug and using conventional small-molecule drugs which principally only modulate the function of receptors and enzymes
ASD are a group of diseases of which the real causes are unknown thereby affecting the development of therapeutic strategies drastically. The treatment method image along with advantage of science where not much useful as it is unable to treat all symptoms of ASD by the advent of stem Cell researches small change happened which helped in treating neurophysiological symptoms also. In a study associated with treatment using mesenchymal stem cells derived from umbilical cord tissue having anti-inflammatory and immunomodulatory properties considered to be safe for various conditions. Also use induced pluripotent stem cells derived from fibroblast are used to form appropriate neuronal lineages. The recent studies in this field demonstrated that human progenitors to respond to the guiding cues and signals which can direct neurons to their proper site of differentiation where it matures and become functionally active. The major challenge of treatments is ensuring the effective integration of transplanted cells in the brain and reconstructing its functional power by intervening into the existing circuitry.
CHD8 (chromodomain helicase DNA-binding protein 8), is one of the most commonly mutated genes in autism spectrum disorders (ASD) identified in exome-sequencing studies.The disruption in CHD8 gene is one of the major risk facor in autism spectrum disorder. The CHD8 gene regulates various cell processes very essential for the nueral functions and they target the ASD associated genes. Knocking out one copy of CHD8 gene in induced pluripotent stemcells using CRISPR CAS9 technology in human embryos prior to neuronal differentiation, gives further understanding on molecular links between CHD8 and ASD. The transcriptomic and bioinformatic analysis of these nueral progenitors derived from CHD8 mutant and induced pluripotent stem cells revealed that the expressionof several thousands of genes in nueral progenitors and early differentiated neurons were affected by the CHD8 hemizygosity. The heterozygous CHD8 knockout (KO) has disrupted the expression of many genes involved in the extracellular matrix formation, neuronal differentiation, and skeletal system development. Also the CHD8 regulated genes were enriched with ASD-risk genes, schizophrenia-risk genes (TCF4), and genes implicated in regulating head size or brain volume. The CHD8+/- and the isogenic control (CHD8+/+) cerebral organoids, which are 3-dimensional structures derived from iPS cells and were subjected to RNA-seq. The results showed that the TCF4 genes were upregulated. Pathway analysis done on differentially expressed genes (DEGs) revealed that the enrichment of genes is involved in neurogenesis, neuronal differentiation, forebrain development, Wnt/β-catenin signaling, and axonal guidance.
SHANK 3 is encodes for the transmission of impulses. Mutation of this SHANK3 is related with autism disorder. Patients of this type of mutation has the symptoms of developmental delays, sleep disturbances, lack of speech... etc. In this study they develop a primate model to study the development of therapy on autism spectrum disorder. They conducted their studies in cynomolgus monkey which show more resemblance with human in their behavior. Using this primate model study they edit the targeted gene of autism using crispr technology. When we study the symptoms of mutant monkey, it is similar to that of autism patient symptoms. Through their work they found out a model to study the therapeutic methods of study like crisper
Therapteutic Stratergies for Autism Spectrum Disorders . (2024, Jan 25). Retrieved from https://studymoose.com/therapteutic-stratergies-for-autism-spectrum-disorders-essay
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