Dual Diagnosis of Down Syndrome and Autism

A person with DS+ASD may show traits that are different from people who have only Down syndrome or only ASD. Because of this, healthcare professionals should look at the whole person when checking for a dual diagnosis.

Receptive language (understanding)

• This allows us to understand and use information like comments, stories, and instructions.  

Expressive language (sharing thoughts and needs)

• This allows us to express wants, needs, thoughts, and interests.
• Individuals with Down syndrome work hard to communicate and may use many ways besides spoken words, including signs or gestures.  

Things to look for:

• Caregivers and healthcare professionals may notice stronger receptive than expressive language, especially in younger children.
• A person with DS+ASD might follow directions only some of the time, even if caregivers know they understand the instruction.
• They may not always respond when their name is called.
• Individuals with DS+ASD will have trouble with both understanding and using language to communicate, including words and gestures.
• They may communicate less overall. Even when they know words or signs, they may not always use them.
• They may do well with alternative and augmentative communication (AAC), like signs, pictures, and higher tech AAC devices.
• Caregivers may notice that their loved one makes less eye contact. People with DS+ASD often do make eye contact, but it may be brief and not used with gestures or other ways of communicating. Some eye contact does not mean a person does not have DS+ASD. 

Rigidity and Restriction

Individuals with Down syndrome often do well with predictable routines, especially as they get older. Those with DS+ASD:

• May need even more routine, starting at a younger age.
• Struggle with changes to routine or shifting from one activity to another. This may lead to intense tantrums and meltdowns.
• Often have specific favorite toys, videos, and interests.
• Have rigid or strict food preferences.  

Repetitive Behaviors

• Repetitive behaviors are actions or sounds that happen over and over again. Examples are repeating movements, words, gestures, or poses. Although it may seem like these behaviors do not have a clear purpose, they may be comforting or fulfilling a sensory need. Those with DS+ASD:
  • Often show more of these behaviors.
  • May find it harder to stop or switch to a different activity, especially something social.

Our senses help us take in and make sense of the world around us. Individuals with DS+ASD may process sensory information differently. This can lead to strong or unexpected reactions to everyday experiences or feelings. Individuals with DS+ASD may seek out or avoid certain sensations.  

Things to Look For:

• Sight/vision: Individuals may enjoy looking at lights or examining objects up close, even if they do not need glasses.
• Sounds/hearing: Individuals may become upset with sudden or loud noises. Examples include blenders, vacuums, motorcycles, and laughter. They may also seek out loud or repeated sounds.
• Smell/taste: Individuals may be very picky about certain foods. They might strongly prefer or avoid specific colors, textures, or brands of food.
• Touch: A person may dislike activities involving touch, especially anything sticky, slimy, or dirty. They may avoid or become upset by haircuts, toothbrushing or dental cleanings, having blood drawn, or having their nails cut. They may also seek certain textures or fabrics.
• Body position: Individuals may be active and like to climb on things, spin, or swing for long periods of time. Some individuals may avoid those activities or often bump into things.
• Balance: Individuals may struggle with coordination, trip or fall often, or have poor posture. They may struggle with fine motor tasks like zipping jackets or holding a pencil.
• Internal sensations: Individuals may not notice internal feelings like hunger or needing to use the bathroom. They may also not be aware of pain. For some, these sensations feel more intense, leading to discomfort with things like changes in temperature or eating.

Challenges with sensory processing can look different for everyone. Individuals with DS+ASD may also show other challenges not listed above. It is important to talk to your healthcare team if you have any concerns. 

Some people with Down syndrome may show challenging behaviors, especially when it is hard to communicate. When someone cannot share what they need or how they feel, it can be frustrating. These feelings may show up in their behavior. People with DS+ASD may do these behaviors more often or more strongly, such as:

Aggression to self, others, or property

• Behaviors like aggression and self-injury may happen when individuals are trying to show what they need or calm down.
• A person may also act aggressively if they feel overwhelmed, scared, or anxious.
• Sometimes these behaviors happen because the person wants attention or wants something.
• These aggressive behaviors can be hard for caregivers and educators.
• Some individuals may benefit from protective gear such as helmets.  

Safety

• Elopement (running away) and wandering (walking away) are common.
• This may happen because of impulsivity, not understanding danger, or avoiding a task.
• Safety, for the individual and others, should always come first.
• Caregivers can use tools like medical alert bracelets, tracking devices, and safety locks. See additional resources below for supporting the safety of individuals with DS+ASD.

Caregivers and schools should work with therapists to find the things that cause challenging behaviors, create behavior plans, and address sensory triggers.

Individuals with DS+ASD can have a wide range of abilities when it comes to daily living skills such as using the bathroom, sleeping, and getting dressed. Some may face more challenges in these areas, but this is not true for everyone. Many individuals with DS+ASD simply learn these skills differently or at a different pace. They may need external motivators to make progress with gaining independence with these skills.

With the right support and strategies, individuals with DS+ASD can continue to build independence throughout their lives.

Regression is a term used to describe the loss of skills previously learned. In some children with Down syndrome, ASD presents as regression, usually between the ages of 3-5 years old. This is usually different from Down Syndrome Regression Disorder. If you notice changes in skills, behavior, or health, talk to your healthcare team.

If you think your loved one may have DS+ASD, talk to a healthcare professional. They may do an evaluation or refer you to a specialist, such as a developmental pediatrician, neurologist, or psychologist.

Your healthcare team may also suggest screening for other conditions that can cause changes in communication or behavior such as:

• Low vision or hearing.
• Thyroid disorders.
• Obstructive sleep apnea.
• GI conditions.

Assessment

A complete assessment may include a medical exam, a psychological evaluation, a speech and language evaluation, and an occupational therapy evaluation. Different professionals may take part in the evaluation depending on where you live. A good evaluation should include seeing the person with Down syndrome and talking in detail with the caregiver.

Things to bring to an evaluation:

• Your loved one (the individual being evaluated).
• Caregiver or support person who knows them well.
• Records from past evaluations, Individualized Family Service Plan (IFSP), school Individualized Education Plan (IEP), or adult Service Plan (SP).
• Assistive devices or technology your loved one uses like glasses, hearing aids, or speech generating devices.
• Other documentation that shows your concerns such as videos or schoolwork; videos can be especially helpful in showing your concerns.
• Comfort items to help your loved one feel calm, such as headphones, a favorite blanket or toy, or a water bottle. 

If You Do Not Receive a Dual Diagnosis

At minimum, an evaluation should include review of hearing and vision information, lab tests for common health conditions, and direct observation of the child with caregiver input. If these steps were not done and you think a dual diagnosis was missed, talk to your primary care professional. You can also ask another specialist for a second opinion.

You can find a Down syndrome specialty clinic on NDSS’ Clinic Map or share CARE Down Syndrome, a clinical education and resource hub, with your healthcare professional. 

Getting a dual diagnosis can feel overwhelming at first, but having a diagnosis can help explain many of your concerns. It can also help you find strategies, therapies, services, and community support for you and your loved one. Every person with DS+ASD is different. There are no one-size fits all strategies or therapies. Work with your healthcare team to find what works best for your loved one.

Strategies

The following strategies may help a person with DS+ASD in everyday life:

• Social stories and video modeling.
  • Social stories are picture books or boards that tell a story to help an individual prepare for an event or to explain a behavior. They can also include coping strategies for certain events, like going to the dentist.
  • Video modeling is similar to social stories. It uses videos of an event, behavior, or procedure to help explain and prepare an individual for what is going to happen.
  • Repeated practice with these tools is important.
  • See resources below for examples of social stories and video modeling.
• Keeping an environment predictable
  • A predictable environment can prevent stress.
  • When you cannot control the environment, offer tools to reduce triggers. Some examples are using headphones to block unexpected noises or making sure your loved one is not hungry or tired before going to crowded places.
• Desensitization
  • Desensitization means taking small steps to help someone slowly get used to a feeling or situation. For example, before a sleep study, you can help your loved one get used to the electrodes by placing stickers on their face and chest. You can slowly add more stickers and leave them on for longer periods of time.
  • This can also help with glasses, hearing aids, toothbrushing, or new foods.
• Multimodal communication
  • Multimodal communication means using many forms of communication. This can include words, visuals, facial expressions, signs, gestures, and AAC devices.  
• Understanding behavior
  • Understanding why a behavior is happening helps to plan ahead for certain behaviors. Think of behavior in three parts:
    • What happens before the behavior.
    • The behavior itself.
    • What happens after the behavior.
  • Work with healthcare professionals to find triggers and plan strategies.
• Boundaries
  • Setting boundaries and limits can help provide structure and set clear rules and expectations.
  • Consistency is key – everyone involved in care needs to keep rules consistent.
  • Keep instructions concrete, as abstract instructions may be confusing.
• Sensory support
  • Tools can help someone manage sensations that feel uncomfortable. For example, sunglasses and headphones can reduce bright lights and loud sounds.
  • Things like compression, weighted items, and gentle vibration may help people feel calm.
  • It’s important to talk with a healthcare professional to make sure these supports are used safely.
• Emotional regulation
  • Strong emotions may lead to aggression or meltdowns.
  • Teaching emotional coping skills can help when someone feels overwhelmed. Examples include taking deep breaths, going to a calm space, and learning words to describe feelings.
  • Caregivers can also support their loved ones by showing these skills and providing sensory support when needed. 

Therapies

Certain therapies can help your loved one build skills and reach goals. Talk to your healthcare team to see which therapies are best for your loved one.  

• Speech therapy

  • Speech-Language Pathologists (SLPs) help people improve social communication, share their needs, and understand others.
  • They can also teach other ways to communicate and help explain what certain behaviors may mean.³  

• Occupational therapy

  • Occupational therapists help with daily living skills, independence, sensory processing, play, and social skills.

• Feeding therapy

  • Feeding therapy can help find tailored strategies for your loved one’s dietary needs.
  • A team of different specialists can help support strict food preferences, sensory likes and dislikes, and skills for chewing and swallowing.
  • Registered dietitians can also ensure that your loved one is getting the nutrients they need, especially if they eat a limited variety of foods.  

• Applied Behavior Analysis (ABA)

  • ABA is considered a “best practice” for individuals with ASD by the U.S. Surgeon General and the American Psychological Association.
  • There are no studies that look at how well it works for individuals with DS+ASD.
  • ABA can be helpful for those with DS+ASD; you should work with your healthcare team to decide if it is right for your loved one.

  • Insurance coverage for ABA varies by state. Local organizations, such as The Arc, can help you learn what is covered in your state.

    Types of ABA:

    - Discrete Trial Training (DST): Breaks down new skills into smaller steps with a lot of repetition. Some families find it too intense or structured

    -Pivotal Response Treatment (PRT): Focuses on important skills like social initiation and self-management. The goal is that these skills can be used in different situations.

    -Early Start Denver Model (ESDM): This therapy is usually for toddlers and supports positive relationship building through play.

• Floor Time (FT)

  • FT is an alternative to ABA and is a play-based therapy.
  • This therapy focuses on social and emotional development. It is used more often for younger children, and does not address speech, motor, or cognitive skills.⁴

Caring for someone with DS+ASD can be joyful and deeply meaningful. At the same time, it can bring unique challenges.

It is common to feel like your loved one doesn’t fully “fit” in either community. This can feel lonely or isolating.

Connecting with others who have similar experiences can help. You can:

• Reach out to your local Down syndrome or autism affiliate.
• Join online or in-person support groups.
• Explore dual diagnosis groups, like the Down Syndrome-Autism Connection.

These connections can provide comfort and understanding. 

Self-care

Taking care of yourself is very important. Caregivers of people with intellectual or developmental disabilities may feel more stress, depression, or anxiety. Chronic stress can affect both your mental and physical health.

Taking time for yourself helps you feel better and helps you care for your loved one.

Simple steps can make a difference:

• Even five minutes of deep breathing a day can improve mood and reduce stress.
• See resources below for more ways to take care of your health and wellbeing.

Services

Access to therapies, home and community-based services, and long-term support can vary depending on your state and insurance plan.

To learn more:

• Check Medicaid in your state to see how to qualify.
• Contact your insurance company to learn what proof of diagnosis is needed for coverage.
• Understanding services and coverage helps you get the support your loved one needs.

Thank you to Noemi Spinazzi, MD, FAAP, Director of the Down Syndrome Center of Excellence at Children’s Specialized Hospital, who provided evidence-based knowledge and content to this webpage.