Children with hereditary disorders may not show signs of autism

An international study analyzed data from 547 people previously diagnosed with one of four genetic conditions known as copy number polymorphism (CNV) associated with an increased likelihood of autism. ..

These CNVs are:

• 22q11.2 deleted
• 22q11.2 Duplicate
• 16p11.2 deleted
• 16p11.2 duplication

Researchers pooled data from eight separate clinical research centers that used all of the Autism Diagnosis Interview Revised Edition (ADI-R) and IQ tests for study participants.

The findings suggest a high incidence of autism in people with these four genetic characteristics, ranging from 23 to 58 percent.

Chawner and his team also found that more than 50% of people with these genetic conditions who do not meet the full criteria for ASD diagnosis still have elevated levels of autism symptoms.

by Centers for Disease Control and Prevention (CDC), Autism is a developmental condition that can cause “significant social, communication, and behavioral challenges.”

“ASD is a neurodevelopmental disorder with impaired social interaction and repetitive patterns of behavior,” says Gatman.

According to Gatman, children with autism can have a variety of symptoms, including:

• Lack of eye contact
• Preference for playing alone
• Difficult to make friends

“Children may show repetitive movements, such as flapping and spinning hands, and repetitive words, such as repetitive conversations from videos,” Gutman added. “Other symptoms include very narrow interest, difficulty changing routines, and being overly sensitive to sound, texture, or odor.”

by 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 your chances of getting autism. These include:

• Advanced parental age at conception
• Prenatal air pollution or exposure to certain pesticides
• Maternal obesity, diabetes, or immune system disorders
• Extreme premature babies or very low birth weight

Recently Research Pregnant women who used acetaminophen (Tylenol), published in the Journal of the American Medical Association (JAMA), were found to have children with a high likelihood of ASD.

There are genetic conditions associated with autism. Tschauner said it is still unclear whether different conditions cause different types of autism.

“Many people in this area have previously hypothesized that different genetic conditions lead to different types of autism,” he said. “In fact, we found a small difference between genetic states, and we were surprised that the various clinical outcomes were within the genetic state.”

Chawner also found that differences in clinical outcomes within genetic states were greater than differences between genetic states.

“For us, this shows that other factors are more likely to play a more important role than the type of genetic condition in explaining the outcome,” he said. “These may include additional genetic factors that alter clinical outcomes and environmental factors, such as access to health care and early education support, as well as prenatal factors.”

“Early diagnosis of children with autism is very important because the sooner they receive the support they need, the more likely they are to get positive results as they grow up.” Tom Frazier, PhD, Chief Science Officer Autism speaks, Said in a statement by email.

Frazier emphasized that a formal diagnosis of autism can open the door to specific treatments.

He also said that children with “certain developmental delays such as speech and motor problems” should be referred for service immediately without waiting for a diagnosis of autism. ..

“This allows children to develop early skills that help them continue to progress and reach their full potential,” he said.

According to Frazier, there are no biological tests available for autism.

This condition is clinically diagnosed using “behavioral observations such as ADOS”. [autism diagnostic observation schedule], Or for older children and adults, the ADI-R used in this study, “he said.

In both cases, it is important for Frazier to have children diagnosed with autism undergo genetic testing to identify the underlying genetic status, as recommended by the American Academy of Pediatrics (AAP). I pointed out.

On the other hand, he said, children with a genetic condition can evaluate issues associated with autism.

Even if the child does not meet the diagnostic criteria for ASD, a developmental assessment of a child with a genetic disorder “identifies other conditions such as social communication disorders, behavioral states, learning disabilities, etc. and receives the necessary support and services. It can lead to things that kids need, “Frager said.

According to Chawner, the study emphasizes the need to integrate genetic testing and autism diagnostic services so that children with one of these CNVs can also evaluate ASD.

He emphasized “a greater awareness of genetics in psychiatric training and a greater awareness of psychiatry in genetic medicine training for healthcare professionals.”

Chawner has specified other possible solutions, including the creation of care channels or services. This will allow the child to receive test results showing that he or she has an autism-related genetic condition and will be quickly followed up for autism assessment.

“We also have psychology and psychiatry specialists in our medical genetics team. Genetic medicine often has strong ties to cancer and cardiology services, but historically it has been psychiatry. It doesn’t really matter, “he said.

“Service delivery requires a shift,” says Chawner.

People with one of four genetic conditions are more likely to have autism, but may not receive the assessment, care, and services they need early in life, according to a new study. there is.

Experts say this is due to the lack of sufficient integration between genetic and autism diagnostic services.

They also say that one possible solution is to create a service care pathway that quickly tracks children with one of these genetic conditions for the assessment of autism.

Experts also say there is a need for a shift to incorporating psychiatric or psychological professionals into the medical genetics team to improve service delivery to people with autism.