People with certain genetic conditions are more likely to get severe symptoms of autism, even if they do not meet all the diagnostic criteria, a study concludes.
Researchers at Cardiff University say their findings show that clinical services need to change to avoid access to vital support and interventions for people diagnosed with autism-related genetic disorders.
Published in The American Journal of Psychiatry, The international study analyzed data from 547 people diagnosed with one of four genetic conditions, also known as changes in copy number (CNVs), associated with a high incidence of autism – delete for 22q11.2, 22q11.2 duplication, 16p11.2 delete and 16p11.2 duplication.
CNVs occur when a small portion of a person’s DNA is missing or duplicated. Some CNVs have been linked to a range of health and development issues. They can be possessed but can also occur at random.
The results showed that autism was high in individuals with these four genetic conditions, ranging from 23% to 58%. The incidence of autism in the general population is 1%. Using clinical cuts, the team also found that 54% of people with these genetic conditions who did not meet the criteria for full autism had high levels of autistic symptoms. Symptoms of autism varied widely between those with the same genetic condition.
Dr Samuel Chawner, based at Cardiff University’s MRC Center for Neuropsychiatric Genetics and Genomics, said: “Our study shows that an individual approach is needed when assessing the needs of people with genetic disorders. many of those included in this study would not meet all the criteria that define someone as autism, more than half of people with the genetic conditions had significant symptoms associated with that is – such as social and communication problems or repetitive behavior.
“There is a risk of these people slipping through the web and denying important services. Unfortunately, many families we have met through this research report long-term conflict. in receiving autism support for their child .. This is often due to a lack of integration between genetic testing services and autism diagnosis services.
“Low awareness of genetic conditions can also be a barrier. It is important for clinicians to be aware of the risk of autism associated with specific genetic conditions to develop opportunities for early diagnosis and support.”
Data for the study were collated from eight clinical research centers around the world, which had used the “Diagnostic Autism – Revised Interview (ADI-R)” and IQ tests on study participants.
The ADI-R is used internationally in research as well as in clinical settings for conducting autism studies. It involves interviewing the parent or carer and asking about the child’s developmental history across areas of social skills, communication skills and repetitive behavior.
It is estimated that 15% of autistic people and 60% of people with developmental delays have a genetic condition.
Helen Hyde’s 16-year-old daughter, Hermione, was confirmed to have been destroyed 22q.11.2 when she was four. Her genetic diagnosis first came to light after she was diagnosed with a palate cleft, which affects her speech. She has Addictive Dyspraxia (DVD), which causes problems with her language processing and communication. As a result, Mini attends a school for pupils with language difficulties where she is fully supported in her education. It was also found with comorbid anxiety.
Mini, as she knows her family, was not formally diagnosed with autism until last year, even though researchers at Cardiff University and her school had previously revealed that she had autistic symptoms. The family has been involved in studies with Cardiff University’s Copy Number Variant research group for eight years.
“In many ways, the diagnosis of Mini cleft palate is easier to deal with than autism and mental health issues,” said Helen, also mother of Olivia, 19, and Edward, 23.
“People have less understanding of the autistic features of Mini and it has been much more difficult to get the right support for it.
“That’s why Cardiff University’s research in this area is so vital. It gives us the tools to be able to fight against a Mini corner to reach its full potential.”
Mini said: “At first I didn’t know what 22q was but now I understand more. My main problem is my speech. Sometimes people don’t understand me and that can make me Sometimes I get difficult lessons and I need a lot of help at school. I know they can learn a lot from these studies and this will help people with 22q in the future. “
Tracy Elliot, Head of Research and Information at the charity Cerebra, said: “We often know that many children and families have difficulty accessing autism support services or are experiencing long delays. welcomes the findings of this research which show that people with genetic conditions are different, this could benefit from the same autism support, which reinforces the case for better support and it should make the path easier for parents and children with rare circumstances. ”
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Cardiff University is an international leader in the study of genetics and neurodevelopmental conditions and has developed one of the largest research centers on people with neurodevelopmental conditions in the world.
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