Down syndrome and CVI explained

Research shows that CVI may be common in Down Syndrome (DS). Learn about what CVI looks in DS, learning challenges, and examples of supports and strategies.

Written by Hannah Mark and Rachel Bennett

Down syndrome (DS), is a genetic disorder that occurs when an individual has an extra copy of chromosome 21. Current research shows that Cerebral/Cortical Visual Impairment (CVI) is more common in neurodevelopmental conditions, including Down syndrome. In one small study, over 38% of kids with Down syndrome showed signs of CVI. Another genetic study suggested that the chromosomal abnormality in Down syndrome could contribute to the development of CVI. DS-CVI is an area of emerging research.

Signs of CVI are often missed in kids with Down syndrome, and the condition is not usually screened for during clinical visits. The challenges associated with CVI are often attributed to behavioral issues, cognitive delay, or other conditions such as autism and attention deficit disorder. Visual challenges might also be associated with other eye problems that commonly occur in Down syndrome, such as keratoconus, nystagmus, and strabismus. 

Because of this diagnostic overshadowing, it is crucial to recognize CVI behaviors in Down syndrome to ensure that the individual receives the appropriate services and support to fully access their learning and their world. Because it’s brain-based, CVI has diverse manifestations, and it’s important to understand what access looks like for each person with CVI. Some with CVI use supports that allow them to use their vision without fatigue, some rely on other sensory modalities (e.g., touch, hearing, movement), and many with CVI use both their available functional visual skills and other senses.

She didn’t imitate well, like her friends with DS who got the dance moves, cheers, and expressions much faster…she didn’t pick things up by watching others and got overwhelmed.

Betsy, DS-CVI parent

What does CVI look like in Down syndrome? 

For people with DS-CVI, and for people with CVI in general, the pattern of visual impairment will be specific to the person. Children with CVI, including those with DS-CVI, might have vision that is better sometimes and worse at other times. They might have loss of their peripheral vision, difficulty seeing where objects begin and end, and trouble recognizing what they see. Children with CVI might be more attracted to objects of specific colors and often use color-coding skills to track an unrecognizable visual world.

Being on the blindness and low vision spectrum, children with CVI often use their other senses, like touch or hearing, to navigate and support recognition. They also might only be able to focus on one sense at a time, using either their vision or their hearing, for example. 

Individuals with CVI often have workarounds for everything that it might be hard to realize that they are not fully using their vision and relying on compensatory skills—like touch, hearing, memory, context, and color-coding—to engage in everyday tasks. The CVI behaviors may not become fully apparent until a child learns to read or engage in increasingly complex academic tasks. While for others, one might notice trouble going downstairs, constant tripping and falling, a head tilt, or overstimulation in busy environments.

She would usually sit down on the floor in a crowd of people, sometimes pulling at someone’s shirt or hand to get that person to sit with her.

Betsy, DS-CVI parent

Children with DS-CVI may exhibit many of the CVI traits and behaviors. Here are a few examples of the behaviors that families notice in their children with suspected DS-CVI: 

CVI is common, yet less than 20% of kids with CVI are diagnosed. Symptoms and traits of CVI are often misdiagnosed as another condition, and mislabeled as defiance, lack of interest, inattentiveness, or disruptive. Behavior is communication—often kids with CVI are expressing a need for access and safety in an inaccessible visual world.

When we tried to show her things in the distance, she just didn’t see them. She also didn’t look up when we pointed to birds in the tree or the sky.

Betsy, DS-CVI parent

DS-CVI and development

A lot of developmental milestones, like pointing, walking, or recognizing faces, depend on vision. So, because of CVI, children with DS-CVI might be delayed in reaching these milestones compared with children with DS alone.  

It is very common for doctors, therapists, and families to assume that slower development in a child with DS is due to being “severely affected” by Down syndrome. By making this assumption, other causes for delay might be missed, including CVI. 

It’s important to notice if a child is developing slower than their peers with DS. If they are, you should ask yourself whether this could be related to their vision and the child should be evaluated for CVI. 

CVI is a lifelong condition and functional vision may improve over time due to neuroplasticity and appropriate access and supports. With early diagnosis and early intervention, we can help kids with CVI build visual skills and sensory skills that are foundational to learning. 

She was delayed in learning to walk and had trouble with hand-eye coordination sports or kicking a ball. She didn’t like to jump high and still doesn’t run. We were confused because her muscles were strong and could do supported handstands in gymnastics, so the delay wasn’t related to muscle weakness.

Betsy, DS-CVI parent

Learning challenges in DS-CVI

Unlike kids who use their vision to watch others work and play, kids with DS-CVI may avoid looking, miss details and have trouble distinguishing faces. Therefore they have trouble learning by watching, which is called incidental learning. This can influence play skills, activities of daily living, social interactions, and concept and vocabulary development.

In a classroom, crowding, movement, and noise make it difficult for children with DS-CVI to pay attention. Because of their challenges with visual recognition, children with DS-CVI may have trouble identifying objects in pictures. They also might struggle with recognizing letters and words. This can affect their learning from books or flashcards and impact vocabulary development. 

Worksheets are often difficult for children with CVI because they are visually crowded and use abstract images and line drawings. Tracing may also be difficult because of trouble with visual guidance of the hands and visual attention to following the lines. With all of these visual challenges, children with DS-CVI may become frustrated or overwhelmed in a classroom, and this can lead to behaviors like crumpling papers, getting up from the desk, putting their head down, or hiding. 

She has a good memory especially with music and she is a visual learner, but she needs her learning materials adapted—reduce visual clutter and crowding and content can’t be too small with abstract drawings and images.

Betsy, DS-CVI parent

Learning strategies

The DS literature discusses how many children with DS are “visual learners”—excellent observers of people and their surroundings, and typically are very good at imitation, gestures, and facial expressions. But with CVI, vision is unreliable, and kids with DS-CVI need support for their vision, adapted materials, and extra focus on learning through their other senses, including hearing and touch. Some may also learn keyboarding and braille so that they can continue to learn even with unreliable vision.

Comprehensive functional vision, CVI, and learning media assessments will collect the necessary information for the school team to decide on the most appropriate supports, services, accommodations, and program placement to ensure a student with DS-CVI has full access to the curriculum and the learning environment. Below are some examples of strategies to help a child with DS-CVI learn. 

She does read better learning words alone, but long sentences or multiple lines gets hard for her to track and we have to cover them with an index card.

Betsy, DS-CVI parent

Resources and next steps

If a child has Down syndrome and seems to struggle with their vision, they should be assessed for CVI to make sure they can learn and grow in a way that works for them. Diagnosis for CVI is based on a combination of a clinical vision exam done by an ophthalmologist, neuro-ophthalmologist, optometrist, or a medical low-vision specialist in combination with a review of medical and educational history. 

The functional vision clinical assessment may include a questionnaire of behaviors, as well as numerous evaluations in a clinic examining visual behavior. If the functional vision exam shows deficits not explained by the ophthalmologic exam of the eye, the ophthalmologist will diagnose CVI. Sometimes, a functional vision evaluation by a Teacher of the Visually Impaired (TVI) can help provide information need to support a diagnosis.

Down syndrome resources 

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