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Autism Symptoms Seen In Genetic Conditions

by Pooja Shete on January 4, 2021 at 1:45 PM
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Autism Symptoms Seen In Genetic Conditions

A study has determined that people with certain genetic conditions are likely to have significant symptoms of autism even if they do not meet all the diagnostic criteria.

The research conducted at Cardiff University is published in journal The American Journal of Psychiatry.


The study showed that clinical services need to adapt so that people diagnosed with autism-linked genetic conditions are not denied access to vital support and interventions.

The Autism Study

For the international study, 547 people were analyzed who had been diagnosed with one of four genetic conditions, also known as copy number variants (CNVs), associated with a high chance of autism including 22q11.2 deletion, 22q11.2 duplication, 16p11.2 deletion and 16p11.2 duplication.

CNV's occur when a small portion of a person's DNA is missing or duplicated and they have been linked to a range of health and developmental issues. CNV's can be inherited but can also occur randomly.

The results of this study showed a high prevalence, ranging from 23 to 58 percent, of autism in individuals with these four genetic conditions. In general population, the prevalence of autism is 1 percent.However, by using clinical cut-offs, it was found 54 percent of people with these genetic condition did not meet full autism diagnostic criteria even though they had elevated levels of autistic symptoms. Considerable variation in the symptoms of autism was found between those who had the same genetic condition.

Dr Samuel Chawner from Cardiff University's MRC Centre for Neuropsychiatric Genetics and Genomics said, "Our study shows that an individualised approach is needed when assessing the needs of people with genetic conditions. Although many of those who were included in this study would not have met all of the criteria which define someone as having autism, more than half of those with these genetic conditions had significant symptoms associated with it - such as social and communication difficulties or repetitive behaviors. There is a danger that being too prescriptive with how autism is diagnosed will result in these individuals slipping through the net and being denied important services. Sadly, many families we have met through doing this research describe longstanding struggles in accessing autism support for their child. This is often due to a lack of integration between genetic testing services and autism diagnosis services."

He also stated that low awareness of genetic conditions can also be a barrier. It is necessary that all the clinicians are aware of the autism risk associated with certain genetic conditions in order to improve opportunities for early diagnosis and support.

Data for the study was taken from Autism Diagnostic Interview - Revised (ADI-R) which is used internationally in research as well as in clinical settings for the diagnosis of autism. ADI-R involves an interview with guardian or parent and questions regarding the child's developmental history across areas of social skills, communication skills and repetitive behaviors are asked.

It is estimated that almost 60 percent of people with developmental delay and 15 percent of autistic people have a genetic condition.

Case Study

Hermione 16 years old and she was diagnosed with 22q.11.2 deletion when she was four. This genetic condition was diagnosed after it was found that she had a cleft palate, which affected her speech. She has Developmental Verbal Dyspraxia (DVD) which makes it difficult for her to process and communicate language. She has also been diagnosed with anxiety.

Hermione was formally diagnosed with autism last year even though researchers at Cardiff University and her school had previously flagged that she had autistic traits.

Tracy Elliot, Head of Research and Information at charity Cerebra, said, "We know many children and families frequently have problems in accessing autism support services or face very long delays. We welcome the findings of this research that indicate that individuals with different genetic conditions could benefit from the same autism support. This reinforces the case for improved support and should ease the path for parents and children with rare conditions."

Source: Medindia

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