CASD Chat: January 2022 - Autism and Genetics

Many patients and families in the autistic community are already aware that the diagnosis of autism spectrum disorder (ASD) is made after a detailed evaluation with neurodevelopmental specialists. Genetic testing cannot diagnose someone with autism, but it could help a family understand how or why someone has autism.

For about 10-20% of people with ASD, an underlying genetic cause can be found. But the word “genetic” can mean a lot of different things! Sometimes autism can be from a large genetic change, like missing piece of a chromosome. Sometimes it can be a very small change, like a single letter difference in the DNA.

Finding a genetic cause for autism can help the health care team make better and more specific recommendations for that particular patient. We want all of our patients to have the support and services that are best for them as individuals so they can meet their greatest potential. Even if a genetic diagnosis doesn’t change the patient’s medical management, many patients and families have reported benefit from simply having a name for something and better overall understanding.

Sometimes, a genetic diagnosis helps us know if there could be other health problems that haven’t presented yet (i.e., heart conditions, hearing loss, seizures and others). Screening for these issues through bloodwork and imaging may be added to the patient’s protocol. Most of the time, the genetic diagnosis does not reveal any new health concerns but does help providers know what treatment for existing concerns would be best for that particular patient.

If we find a genetic cause for autism, we can look to other patients with the same genetic diagnosis and ask, “What worked best for them?” For example, some genetic conditions related to autism have greater challenges with speech and communication, so those patients would need increased speech therapy or communication devices. Others may have greater challenges with motor skills, so those patients might need more physical therapy or supportive devices. In very rare cases there may even be treatment such as medications that can help improve symptoms or behaviors.

The best place to start is a baseline evaluation with your local geneticist. Your pediatrician, primary care doctor, neurologist or other healthcare provider can give you a referral to your local genetics doctor and genetic counselor. This initial visit usually lasts about 60-90 minutes and the team will discuss which genetic test they think is best to start with.

Many genetics providers now offer telemedicine visits or specialized environments that decrease sensory overload specifically for patients with autism.

Surprisingly, the majority of patients with autism who undergo genetic testing have negative results (no known abnormalities). In these cases, we believe there is likely still is a genetic cause for the autism, but the tests available today just weren’t able to find it. It could also be that the autism was caused by many factors working together such as genetics AND environmental factors.

Negative genetic testing does not rule out a diagnosis of autism. Instead, it indicates that science and medicine simply have a lot more to learn about autism. Genetic medicine is constantly changing and improving. It is important to check in with your genetics team at least once per year to ask if there are any updates to previous tests or if new tests have become available.

Genetic testing should only be ordered after a thorough evaluation with a genetics doctor. The genetics team will do a physical exam and will collect information such as the pregnancy history, birth history and developmental history. Most genetics providers will take a detailed family history. You should bring any relevant health records to your visit and be prepared to review testing that’s been done so far. Genetic testing can be performed on a either a blood sample or cheek swab (also called “buccal”) sample. Most of the time, the sample will not be collected the same day as your visit, because genetic testing usually requires prior authorization by insurance companies. In some cases, the sample for genetic testing can be collected the same day as the visit.

After meeting with the geneticist and genetic counselor, the healthcare team will discuss different options for testing and insurance coverage for these tests. If insurance does not cover genetic testing, there might be other options through self-pay or research testing.

A lot of people believe the word “genetic” means it must be inherited or passed down from the parents, but this is not always true. Sometimes a genetic cause for autism runs in families, but many times it can be something new that happened in a child for the first time.

As a brief genetics review: humans have about 20,000 different genes. We usually have two copies of each gene, as they come in pairs: one from our biological mother, one from our biological father. For recessive conditions, parents are usually carriers, which means they have one copy of the gene that is working, and one copy that is not working. If two people are carriers for the same recessive condition, there is a 25% chance with each pregnancy that both parents pass down their non-working copy of the gene, and that child with both non-working copies of the gene is affected. That means there’s a 75% for the same couple to have children who are unaffected, as long as they get one working copy of the gene. For dominant conditions, only one copy of the gene needs to be non-working to be affected.

Many cases of neurodevelopmental conditions such as autism occur due to a random mutation (or “spelling mistake”) that neither parent was a carrier for but happened as a new event in the child for the first time, right after the sperm and the egg came together. This is still considered a “genetic” disorder, even though it was not inherited.

Enjoy these information-packed free webinars on your own or make them a powerful group learning event with your colleagues, friends, and family members. Topics include:

• Working/learning in groups
• Face-to-face communication
• Social anxiety
• Executive functions
• Children’s stress
• Self-regulation
• Individual webinars on ten core Social Thinking vocabulary

The Unstuck author team has created short videos to help parents of children with executive functioning difficulties. View these playlists in English and Spanish.

If you like the videos and your child attends school in Virginia, ask your school about being involved in our Unstuck implementation project. Learn more about the project.

Autism and Gender Diversity

Participants requested for a research study of young adults who have autism and are transgender (or nonbinary, agender or gender fluid). View the flyer (JPG).

Comparative Effectiveness of EIBI and Adaptive ABA for Children with Autism

This research study will compare two different interventions for young children with autism. View the flyer (JPG).

Study of Undiagnosed and Diagnosed Genetic Diseases

Investigators at Children’s National Center for Genetic Medicine Research, in collaboration with Invitae Corporation, are researching the genetic causes of human disease. If you or a family member have a known or uncertain genetic diagnosis or suspected genetic diagnosis, you may be eligible to participate in our research program. View the flyer (PNG).

Team Trestle: An Application for Transition Planning and Coordination

The Drexel Autism Institute is seeking youth ages 13-29 on the autism spectrum who are transitioning to adulthood. They are also looking for these youths’ caregivers and providers to participate in a study about Team Trestle, an application for transition planning and coordination. This virtual tool is designed to help autistic individuals meet their life goals by engaging autistic youth/young adults, their parents/legal guardians, and providers in the collaborative process of implementing and achieving goals during the transition to adulthood. For more information, check out the flyer. If you’re interested, fill out the interest form or email the Drexel University team.

Understanding Communication Tools for Young Children with Autism

The Autism Institute at Drexel University is seeking parents/caregivers OR preschool/daycare providers of autistic children aged 24-60 months who have trouble speaking and use a communication tool (i.e., PECS, AAC device). They want to better understand the use of communication tools and how collaboration occurs about communication tool use in home/school settings for minimally verbal preschool students with autism. During a 90-minute focus group or interview, they want to learn how teams work together to support children who use communication tools. If you are interested, please fill out the interest form or email the Drexel University team and they will contact you.

Advocacy Resources

• Autistic Self Advocacy Network – Navigating College: A Handbook on Self Advocacy

Resources on Anti-Racism

• Spectrum Support's Social Stories on Racism
• ASAN's What is Police Violence?: A Plain Language Booklet
• @TheMorganCruise Worksheets for Black Children

COVID-19 Safety Resources

• Behavioral Directions LLC's Safety Teaching Protocol
• Visit Children's National Hospital's COVID-19 Resources

COVID-19 National and Local Government Resources

• Centers for Disease Control and Prevention
• World Health Organization
• D.C. Department of Health
• Maryland Department of Health
• Virginia Department of Health
• U.S Department of Education's Individuals with Disabilities Education Act (IDEA) Part B Dispute Resolution Procedures
• U.S Department of Education's Individuals with Disabilities Education Act (IDEA) Part C Dispute Resolution Procedures