Autism Symptoms Guide

Understanding autism, as a neurodevelopment disorder, and as a symptom of a rare disease

Understanding Autism

Autism is a spectrum disorder. This means that individuals diagnosed with autism can fall along a spectrum in terms of the severity of their autism and its symptoms. Some individuals with autism are very high functioning, while others exhibit very severe symptoms that affect their ability to live independently. Autism affects the ability to communicate, socialize and express emotion. Common features of this neurodevelopmental disorder include a lack of interest in other people, difficulty in expressing and showing emotion, and hyperfocus on a particular subject or object.

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Autism Research

Ongoing research into autism is showing potential differences in how the condition looks in girls compared to boys. Currently, the main diagnostic guidelines for autism are based only on research from boys with autism. However, the more we know about the disorder, this is likely to change. Growing awareness about autism is also leading to a higher rate of diagnosis amongst adults. This increased awareness is an example to the field of rare diseases, as an example of how increased research and education into a condition can improve diagnostic rates and outcomes for affected individuals.

Diagnosing Autism

Autism, in some instances, may be a stand-alone diagnosis. In other cases, it may be the symptom of a rare disease. Some of these syndromes include Rett syndrome, Fragile X syndrome, and Pitt-Hopkins syndrome. Sometimes the first indication of a rare disease in a child is the symptoms of autism. Parents tend to be more aware of these symptoms due to increased awareness and education around autism and its symptoms. The presence of autistic features and symptoms may warrant the need for initial genetic analysis, followed by genetic counseling, and where necessary, genetic testing.

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Autism

Autism

Autism

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Autism

Diagnosis & Testing

Autism

Autism

Autism

Autism

Autism

Autism

Diagnosis & Testing

Autism

Autism

Autism

Autism

Autism

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