Journal of Genetic Disorders & Genetic Reports ISSN: 2327-5790

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Perspective, J Genet Disor Genet Rep Vol: 10 Issue: 6

Syndromic Autism Spectrum Disorder

Olivia Jhon*

Department of Oncology, Canada Metropolitan Geriatric Medical Center, Canada

*Corresponding author: Basin M, Department of Oncology, Canada Metropolitan Geriatric Medical Center, Canada; E-mail: [email protected]

Received date: June 02, 2021; Accepted date: June 15, 2021; Published date: June 27, 2021

Keywords: Autism

Introduction

 

Autism may be a neurological developmental disability that hampers normal brain development, affecting communication, social interaction, cognition, and behavior. Autism is understood as a spectrum disorder because its symptoms and characteristics appear during a sort of combinations that affect children in several ways. Some children may have severe challenges and would wish help while others could also be ready to manage their tasks independently, with less help. Earlier, each condition (autistic disorder, pervasive developmental disorder not otherwise specified (PDD-NOS), and Asperger syndrome) was diagnosed separately but now, these conditions are grouped together and are called as autism spectrum disorder. Individuals who have been diagnosed with ASD may have difficulty communicating with others, making friends and relating to other people. They may also have very narrow, intense interests and unusual reactions to sights, sounds, smells and touch. They may do the same things over and over again and get upset if their routine is interrupted or changes. Doctors and researchers are trying to find out what causes ASD. There could be many different causes, but it is very likely that an individual’s genes influence whether or not they have ASD. There are some families with more than one member who has ASD. Another factor that may influence whether or not someone has ASD is their environment. But autistic children might also be able to keep their attention on things they like for long periods of time. They can be very good at shutting out other things. For example, a child who’s keen on trains might be able to focus for a long time while setting up some train tracks. The child might also find it difficult to shift their attention to other tasks or miss cues that it’s time to pack up. Ost current research demonstrates that there’s no single cause. Some of the suspected risk factors for autism include having an instantaneous loved one with autism genetic mutations fragile X syndrome and other genetic disorders being born to older parents low birth weight metabolic imbalances exposure to heavy metals and environmental toxins a history of viral infections fetal exposure to the medications valproic acid (Depakene) or thalidomide (Thalomid) With its vast amount of data and accessibility, the Internet has become a powerful tool in the search for up-to-date information. Chances are, however, you do not have the additional time needed to filter the infinite amount of data on autism and special services as you balance lifestyle. As a part of our ongoing endeavor to supply families suffering from autism with the newest information and advice, we've compiled an inventory of autism-related resources and directories. Whether you are a parent, family member, caregiver or teacher of someone with autism, or you are on the spectrum yourself, we hope the following websites and articles can help guide you in the right direction. The autism spectrum consists of a wide range of mental and behavioral atypicalities a that usually appear early in childhood, change with development, and continue to manifest themselves throughout life. Individuals said to be ‘on the autism spectrum’ typically receive a diagnosis of autism spectrum disorder (ASD) based on a series of criteria developed by the American Psychiatric Association. These criteria are ‘persistent deficits in social communication and social interaction across multiple context ‘restricted, repetitive patterns of behavior, interest, or activities the presence of atypicalities ‘in the early developmental period clinically significant impairment in social, occupational, or other important areas of current functioning’; and ‘disturbances … not better explained by intellectual disability or global developmental delay’. Altough these criteria might appear to be narrow enough to define a relatively homogeneous entity, they are not. Because DSM criteria can be met in widely differing ways, there is considerable variation among those with the diagnosis. In this article, we will first describe this variability and then discuss some of what we know about the causal complexity that underlies it. Direct evidence comes from sources employing a variety of approaches. One such approach involves the study of syndromes of known single-gene origin with autistic behavioral characteristics (often called ‘syndromic autism’ 31). Two of the most widely studied forms of syndromic autism involve Fragile × Syndrome (involving the FMR1 gene and pathogenic mechanisms affecting synaptic plasticity and neuronal connectivity) and Rett Syndrome (MeCP2 gene, implicated in maintaining neuronal function). While syndromes of this sort provide clear evidence that gene-dependent neuronal pathology can be associated with autistic symptomatology, only a very small proportion of ASD cases for Fragile × and Rett taken together) are syndromic.

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