Autism Spectrum Disorder & Co-Occurring Conditions

Whole Genome Sequencing

Obtain A Diagnosis In Two Months, Not Years

Introduction

Early Intervention

Diagnosing autism early and starting treatment right away can lead to big, long-term benefits like:

• Fewer autism-related challenges

• Better skill-building and learning

Autism spectrum disorder (ASD) can often be spotted in kids as young as 2 or 3 years old.

• Early treatment can help some children improve so much that autism-related symptoms become hard to notice.

• This is because young children’s brains are still growing and are more flexible, making treatments more effective.

Starting therapy early gives autistic children a better chance to learn and make progress (1-5).

Genetics and Autism

• Autism symptoms can vary a lot, but studies show it’s mostly linked to genetics.

• In the past 15 years, researchers have found over 1000 genes related to autism, helping to diagnose 40-50% of cases.

• Diagnosis is often easier in individuals who also have other conditions like intellectual disabilities or seizures.

New guidelines recommend starting developmental and behavioral therapy as soon as autism is diagnosed or strongly suspected.

• But diagnosing autism in very young kids can be tricky because symptoms may not be clear yet.

• A whole genome sequencing test can help by checking for genetic causes linked to autism.

• Finding a genetic change may help doctors confirm the diagnosis faster.

Why Whole Genome Sequencing is Helpful for Autism?

Autism spectrum disorder (ASD) can have many different genetic causes. Whole genome sequencing (WGS) looks at all of a person’s DNA and can find the changes linked to autism.

1. Looks at All DNA
   WGS checks the whole DNA, not just small parts. This makes it better at finding rare or tiny changes that other tests might miss.

2. Checks Hidden Areas
   Most tests only look at DNA that makes proteins, but WGS also looks at areas that control how genes work. These areas can also be important for autism.

3. Helps with Treatment
   If we know the genetic cause of autism, doctors can suggest better treatments or therapies for that person.

4. Gives Family Planning Answers
   WGS can help families understand if autism might affect other siblings or future children, giving them more information to plan.

WGS is a powerful tool that can find the causes of autism, leading to better care and answers for families.

Rainbow’s test stands out by checking the whole genome for many types of hard-to-find genetic changes all at once

Giving fast and clear answers!

We detect tricky mutations like:

• Big and small missing or extra pieces of DNA called copy number variants (CNVs)

• Hidden changes in areas that don't contain genes called intronic mutations

• Mixed-up DNA called mosaic mutations

• Errors in controlling genes called gene splicing

Our advanced tools include whole genome, RNA, and other cutting-edge tests to ensure accurate results.

Learn more about the benefits of whole genome Sequencing Test -

1. Rainbow’s test determines co-occurring conditions and prevent misdiagnosis

In the past 10 years, research has shown that autism is caused by a mix of genes and environmental factors.

It often comes with other overlapping conditions, including developmental problems, epilepsy, language issues, etc.

• It can be hard to tell which genes are causing autism symptoms. For instance, changes in the UBE3A gene are linked to Angelman syndrome.

• Angelman syndrome is different from autism but can cause similar symptoms like trouble with movement and speech. This overlap can sometimes lead to a misdiagnosis.

2. Determine spontaneous genetic mutations & help with family planning

• A large study found that new genetic changes, called de novo mutations, play a big role in autism. (Communications Biology. 2021, 4:1026).

• These changes happen in the child and aren’t inherited from parents.

• If your first child is affected by a de novo mutation, it is unlikely your future pregnancy will be affected.

• Rainbow’s whole genome sequencing test can find these tricky mutations.

3. Consider whole genome sequencing when regular tests don’t find the Genetic Cause

• Doctors often use tests like Fragile X syndrome screening, karyotyping, and chromosomal microarray (CMA) to diagnose autism. However, these tests only find answers in about 1%-10% of cases.

• This means most children don’t get a diagnosis, delaying important treatments.

• With whole genome sequencing and special testing for genetic changes, doctors are now able to find the cause of autism in over 50% of cases, especially when there are other signs like developmental delays.

• This test can also detect genetic issues linked to other brain or behavior problems if they are present.

Comprehensive Test Details

This test looks at over 20,000 genes to find the genetic causes of autism, behavior issues, and related co-occurring conditions

• It goes beyond simple tests to give a more accurate result. The test checks for different types of genetic changes, including rare ones, and includes the latest information about autism-related genes.

• It uses advanced techniques like RNA sequencing and high-resolution testing to find even the smallest genetic differences that might be missed by other tests.

We also look at specific genes linked to autism spectrum

• Autism Spectrum Disorder: Over 1400 genes, 366 associated co-occurring disorders

Determine copy number variants (CNVs)

Studies, including those in Asia, show that CNVs play a big role in autism.

• Copy Number Variants are submicroscopic structural changes in chromosomes, like missing, extra, or rearranged pieces.

• Rainbow’s whole genome sequencing, combined with advanced testing methods, helps find these important changes for better understanding and diagnosis.

Trio Sequencing

• Testing both parents and the child together (called trio sequencing) has been shown to improve the chances of finding a diagnosis, especially when there is no family history of the condition.

• This method helps identify new mutations that happen only in the child (de novo) or when both parents carry different genetic changes (compound heterozygote).

Pharmacogenomic Testing - Pediatric and ADHD medications

Optional Pharmacogenomic Test on 47 Commonly-Prescribed Psychiatric Drugs

• Includes 47 antidepressants, antipsychotic, anxiolytic and ADHD medications

Rainbow’s clinical teams in Japan and the U.S. will also carefully review gene variants specific to Chinese, East Asian, and South Asian people, which may not be well-reported in international databases.

Is This Test Right For your Child and your family?

Diagnosing autism in young children can be challenging.

• This genomic sequencing test can help doctors quickly confirm if a genetic cause is linked to a child’s autism symptoms.

• If there’s a family history of autism, it may be due to a genetic factor, and genetic testing can help confirm this.

• If you already have a child with autism and are planning to have another, whole genome sequencing can check if a new genetic mutation (called de novo mutation) caused the condition.

  • A de novo mutation happens in the child, not inherited from the parents.

  • This mutation is unlikely to happen in your second pregnancy, giving families peace of mind when planning for a second child.

Web Resources

• Why genetic tests matter for autistic people. Spectrum (Supported by the Simons Foundation Autism Research Initiative). January, 2019.

• Should I (or we) have genetic testing for autism? Autism Speaks, December, 2019

• Early Intervention for Autism. NIH

References

1. National Research Council, Committee on Educational Interventions for Children with Autism. Educating Children With Autism. Lord, C., McGee, J. P., eds. Washington, DC: National Academies Press; 2001.

2. Olley, J. G. (2005). Curriculum and classroom structure. In: Volkmar, F. R., Paul, R., Klin, A., Cohen, D. (Eds.), Handbook of Autism and Pervasive Developmental Disorders. 3rd ed. Vol II (863–881). Hoboken, NJ: John Wiley & Sons.

3. Helt, M., Kelley, E., Kinsbourne, M., Pandey, J., Boorstein, H., Herbert, M., et al. (2008). Can children with autism recover? If so, how? Neuropsychology Review, 18(4), 339–366.

4. Rogers, S. J., & Lewis, H. (1989). An effective day treatment model for young children with pervasive developmental disorders. Journal of the American Academy of Child and Adolescent Psychiatry, 28(2), 207–214.

5. Reichow, B., & Wolery, M. (2009). Comprehensive synthesis of early intensive behavioral interventions for young children with autism based on the UCLA young autism project model. Journal of Autism and Developmental Disorders, 39(1), 23–41.

6. Zwaigenbaum, L., Bauman, M. L., Choueiri, R., Kasari, C., Carter, A., Granpeesheh, D., et al. (2015). Early intervention for children with autism spectrum disorder under 3 years of age: Recommendations for practice and research. Pediatrics, 136(Suppl 1), S60–81. PMID: 26430170

7. Dawson, G., Rogers, S., Munson, J., Smith, M., Winter, J., Greenson, J., et al. (2010). Randomized, controlled trial of an intervention for toddlers with autism: the Early Start Denver Model. Pediatrics, 125(1), e17–23.

8. Building the Legacy: IDEA 2004. (2010). Retrieved January 28, 2011, from http://idea.ed.gov/

Patients will be referred to physician-specialists with substantial clinical genetic experience for pre- and post-test consultation and care.

Our collaborating clinicians include neurologists, pediatric complex-disorder specialists, emergency neonatal physicians, behavioral and psycho-developmental specialists, and rare disease specialists.