- A new study finds that people with 1 in 4 genetic conditions have more autism, but may not receive the assessment, care, and services they need early enough in life.
- According to the National Institute of Environmental Health Science (NIEHS), scientists are still trying to understand why some people develop autism spectrum disorder (ASD) and others do not.
- Risk factors include the age of parents at the time of breeding and exposure to air pollution, experts say.
More than half of people born with 1 in 4 genetic conditions experience symptoms of autism, despite not deserving of a formal diagnosis, according to a new study conducted at Cardiff University in the United Kingdom.
“A number of genetic conditions have been linked to autism, and these conditions are increasingly prevalent within health services, yet there was a lack of information on past behavioral outcomes,” said the lead author of the study , Samuel Chawner, PhD, postdoctoral research scientist at Cardiff University The MRC Center for Neuropsychiatric Genetics and Genomics, told Healthline.
“We wanted to conduct a detailed study to build a clinical evidence base of these genetic conditions associated with autism,” Chawner said.
The findings of the study show that clinical services need to change so that people diagnosed with autism-related genetic conditions are not mistakenly denied access to emergency support services, researchers said.
And helping children early is crucial because a large number of them are experiencing autism spectrum disorder (ASD) in the United States.
“According to the latest data from the CDC Developmental Autism and Developmental Disorders Study Network, the incidence of autism spectrum disorder (ASD) is 18.5 per 1,000, or 1 in 54 children,” said Dr. Alyson Gutman, a pediatric developmental and pediatric specialist. behavior at Cohen Children ‘s Medical Center in New York, told Healthline.
Gutman was not involved in the investigation.
The international study analyzed data from 547 previously diagnosed individuals with 1 in 4 genetic conditions known as copy number changes (CNVs) associated with increased incidence of autism.
These CNVs are:
- Delete 22q11.2
- Duplication 22q11.2
- Delete 16p11.2
- Duplication 16p11.2
Researchers collected data from eight separate clinical research centers that all used the Diagnostic Autism Interview Tests (ADI-R) and IQ on study participants.
The results show that people with these four genetic markers have a high prevalence of autism, ranging from 23 to 58 percent.
Chawner and the team also found that more than 50 percent of people with these genetic conditions who did not meet the full criteria for a diagnosis of ASD still had higher levels of autism symptoms.
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“ASD is a neurodevelopmental disorder that includes disadvantages in social interactions and repetitive behavioral patterns,” Gutman said.
Gutman said autistic children can exhibit a wide range of symptoms that may include:
- lack of eye contact
- option to play alone
- problem making friends
“Children can exhibit repetitive movements, such as hand clapping or spinning, and repetitive language, such as repeating a conversation from videos,” Gutman said. “Other symptoms include very narrow interests, difficulty with changes in habits, and being too sensitive to sounds, textures or smells. ”
According to the National Institute of Environmental Health Sciences (NIEHA), scientists are still trying to understand why some people develop ASD and others do not.
However, there are environmental risk factors that can increase the chance of autism. These include:
- age of advanced parents at the time of idea
- predisposition to specific air pollution or toxins
- maternal obesity, diabetes, or immune system disorders
- extreme premature or very low birth weight
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Genetic conditions are associated with autism. Chawner said it is not yet known whether different conditions cause different types of autism.
“Many in the field have previously suggested that different genetic conditions lead to different types of autism,” he said. “Indeed, we found small differences between genetic conditions, and were amazed at the variability of clinical outcomes in a genetic setting. ”
Chawner also found that the differences in clinical outcomes within a genetic setting outweighed the differences between genetic conditions.
“For us this shows that other traits tend to play a more important role than the type of genetic predisposition in defining a product,” he said. “These could include additional genetic factors that alter clinical outcomes or environmental factors, such as access to health care and early education support, and prenatal factors.”
“Early diagnosis for children with autism is crucial because the sooner that child gets the support they need, the better the chances for positive outcomes as they grow,” said Tom Frazier , PhD, chief science officer at Autism Speaks, in an e – mail statement.
Frazier emphasized that a formal diagnosis of autism can open the door to specific treatments.
He also said that children with “specific developmental delays such as speech or motor issues” should be referred for services immediately without waiting for an autism diagnosis.
“This will ensure that children can continue to make progress and develop early skills that will help them reach their full potential,” he said.
According to Frazier, a biological test is not available for autism.
The condition is clinically confirmed using behavioral observation “like the ADOS [autism diagnostic observation schedule], or for older children and adults, the ADI-R used in this study, ”he said.
Frazier pointed out that, in all cases, it is important for children diagnosed with autism to have genetic tests, as recommended by the American Academy of Pediatrics (AAP), to identify underlying genetic conditions.
On the other hand, children with genetic conditions can be assessed for autism and related challenges, he said.
Even if a child does not meet the criteria for being diagnosed with ASD, developmental assessment for children with a genetic disorder can “lead to the identification of other conditions such as social communication disorders, behavioral conditions or learning disabilities , and receive essential support and services in a place that the child needs, ”Frazier said.
According to Chawner, this study reinforces the need to integrate genetic testing and autism diagnosis services so that children with one of these CNVs can be assessed for ASD.
He emphasized the need “for greater awareness of genetics in psychotherapy training and for greater awareness of psychiatry in medical genetics training for medical professionals.”
Chawner identified other possible solutions, which include creating care pathways or services so that a child gets results from tests that show they have a genetic condition linked to autism. find a quick way to assess autism.
“Also with psychology and psychiatry professionals rooted in medical genetic teams – medical genetics often have strong links to cancer or cardiology services but historically less so with psychiatry,” he said.
“There needs to be a shift in service delivery,” Chawner said.
A new study finds that people with 1 in 4 genetic conditions have more autism, but may not receive the assessment, care, and services they need early enough in life.
Experts say this is because there is not enough integration between genetic diagnostic services and autism.
They also say one potential solution is to create service care pathways that accelerate children with one of these genetic conditions for autism assessment.
Experts also say a move towards psychotherapy or psychology professionals with medical genetics teams is needed to improve service delivery to autistic people.