Key TakeawaysCertain genetic conditions are associated with autism symptoms but may not meet the criteria for an autism spectrum disorder diagnosisAutism is evaluated based on behavioral traits, so the road to diagnosis can be long and challengingEarly intervention for children is key to better outcomes later in life

Key Takeaways

Certain genetic conditions are associated with autism symptoms but may not meet the criteria for an autism spectrum disorder diagnosisAutism is evaluated based on behavioral traits, so the road to diagnosis can be long and challengingEarly intervention for children is key to better outcomes later in life

The study, which looked at 547 people previously diagnosed with one of four genetic conditions that are associated with a high incidence of autism, found that 23% to 58% of participants also presented with autism symptoms (social and communication difficulties and/or repetitive behaviors). Comparatively, the prevalence of autism in the general public is only 1%.

“A child may have clinically significant symptoms, but not meet formal autism criteria,”Samuel JRA Chawner, PhD, co-author of the study, and research scientist with MRC Centre for Neuropsychiatric Genetics and Genomics at Cardiff University, tells Verywell via email. “Families in this situation currently receive very little support.”

Genetic Conditions Associated with Autism Symptoms

According to theNational Human Genome Research Institute(NIH), CNV occurs when there is a variation in the number of copies of certain genes expressed in DNA from person to person. The gains and losses of genetic material has been associated with an increased risk in certain diseases and conditions, including autism, although research is ongoing.

This particular study included people carrying one of the following categorized CNVs:

According to Chawner, the prevalence of autism in certain genetic conditions can range from 11% to 61% .

“In terms of autism symptoms, previous studies have tended to focus on autism diagnosis rather than symptoms,” Chawner says. “Our study indicates that clinically important symptoms are very prevalent, even in those children who do not formally meet autism criteria.”

Autism Spectrum Disorder Diagnosis Criteria

The Diagnostic and Statistical Manual of Mental Disorders (DSM-5) outlines the specific criteria physicians must use to make a formal autism spectrum disorder (ASD) diagnosis:

The ADI-R and Other Tests Used to Make an Autism Diagnosis

Early Intervention is Key

There is currently not a cure for ASD, but the CDC says that support and intervention at an early age is critical to reduce the impact of development delays and to provide skills to help navigate social, emotional, and school settings. That makes more inclusive diagnostic criteria even more essential.

New Blood Test Could Revolutionize Autism Diagnosis

“It is important that families receive support early in their child’s development to give them the best opportunity to reach their potential,”Marianne van den Bree, PhD, senior author of the study, and professor in the division of psychological medicine and clinical neurosciences at Cardiff University, tells Verywell via email. “All too often, families experience barriers such as long waiting lists for diagnostic services that mean the vital opportunity for early support is missed.”

In the U.S., individual states, counties and school districts offer early intervention services as well as special education services up until the age of 22.

Even if a caregiver suspects autism but is unable to get a diagnosis, there are ways to pursue early intervention. For example, a formal ASD diagnosis is not needed for treatment for specific symptoms, such as speech therapy for language delays.

What This Means For You

3 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Chawner S, Doherty J, Anney R, Antshel K, Bearden C, Bernier R, et al.A genetics- first approach to dissecting the heterogeneity of autism: phenotypic comparison of autism risk copy number variants.The American Journal of Psychiatry. January 1, 2021:178(1):77-86. doi:0.1176/appi.ajp.2020.20010015American Psychiatric Association. (2013).Diagnostic and statistical manual of mental disorders(5th ed.).Centers for Disease Control and Prevention.Screening and diagnosis of autism spectrum disorder for healthcare providers.

3 Sources

Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Chawner S, Doherty J, Anney R, Antshel K, Bearden C, Bernier R, et al.A genetics- first approach to dissecting the heterogeneity of autism: phenotypic comparison of autism risk copy number variants.The American Journal of Psychiatry. January 1, 2021:178(1):77-86. doi:0.1176/appi.ajp.2020.20010015American Psychiatric Association. (2013).Diagnostic and statistical manual of mental disorders(5th ed.).Centers for Disease Control and Prevention.Screening and diagnosis of autism spectrum disorder for healthcare providers.

Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.

Chawner S, Doherty J, Anney R, Antshel K, Bearden C, Bernier R, et al.A genetics- first approach to dissecting the heterogeneity of autism: phenotypic comparison of autism risk copy number variants.The American Journal of Psychiatry. January 1, 2021:178(1):77-86. doi:0.1176/appi.ajp.2020.20010015American Psychiatric Association. (2013).Diagnostic and statistical manual of mental disorders(5th ed.).Centers for Disease Control and Prevention.Screening and diagnosis of autism spectrum disorder for healthcare providers.

Chawner S, Doherty J, Anney R, Antshel K, Bearden C, Bernier R, et al.A genetics- first approach to dissecting the heterogeneity of autism: phenotypic comparison of autism risk copy number variants.The American Journal of Psychiatry. January 1, 2021:178(1):77-86. doi:0.1176/appi.ajp.2020.20010015

American Psychiatric Association. (2013).Diagnostic and statistical manual of mental disorders(5th ed.).

Centers for Disease Control and Prevention.Screening and diagnosis of autism spectrum disorder for healthcare providers.

Meet Our Medical Expert Board

Share Feedback

Was this page helpful?Thanks for your feedback!What is your feedback?OtherHelpfulReport an ErrorSubmit

Was this page helpful?

Thanks for your feedback!

What is your feedback?OtherHelpfulReport an ErrorSubmit

What is your feedback?