Questions about Development

May 1, 2024 Chromosome 22 Central

Why can Chromosome Disorders Cause Developmental Problems?

The way the brain functions is often affected in people with chromosome disorders. We need our brains to think, learn, move, feel, and act. When we talk about a child’s development, we are talking about the sequence of skills that most children learn naturally within specific age ranges. For example, most children can sit by themselves by eight months of age and walk by fourteen months. For typically developing children, this happens without much help from anyone—it is a natural result of brain development. For children with chromosome disorders, there may be delays in development—for example, a child with Down syndrome may not walk until he is almost two years old. Or, some skills may not develop at all—for example, most children with Angelman syndrome never develop speech.

It is important to remember that every child’s development will be affected differently. Even children with the same chromosome disorder may develop at different rates and ultimately have different skills.

How Might My Child’s Gross Motor Skills be Affected?

Your child may achieve her gross motor milestones later than expected, things like head control, sitting, crawling, and walking. She may need extra help to reach her motor milestones—such as physiotherapy, or supportive devices like a walker or ankle braces. Some children have severe motor problems and require a wheelchair for their whole life. Others have minor motor problems, like incoordination, which might cause falls or prevent them from becoming a star athlete.

What About Fine Motor Skills?

Fine motor skills include things like picking up small objects, learning to draw and print, and using your hands to do everyday tasks. Children with gross motor delays often have fine motor delays also. Severe fine motor issues can interfere with a child’s ability to feed and dress himself. Printing can be difficult or messy in a child with poor fine motor skills, so it might be helpful to have access to a computer for schoolwork. For a non-verbal child, developing fine motor skills can be essential for them to use other methods of communication (see below).

What Communication Challenges Might My Child Experience?

Speech development is often affected in people with chromosome disorders. There can be delays in speech, in which case, speech therapy can be helpful. Some children have difficulty forming words, leading to their speech being difficult to understand. Some children never develop speech but can communicate using gestures, sign language, picture exchange, or assistive computer devices. Receptive language—that is, the ability to understand what is said to you—is often better developed than expressive language (speech) in children with chromosome disorders. So, your child likely understands far more than what she can communicate.

Is My Child Going to Be Intellectually Disabled?

It really depends on the type of chromosome disorder. Some have minimal effect on intellect or cause only mild learning disorders (for example, Turner syndrome). Some, like Down syndrome, have mild to moderate intellectual disability. Many adults with Down syndrome can read and write, and hold down a job, although they usually need a lot of extra support to do so. Some chromosomal disorders cause severe intellectual disability. People with severe disabilities may not learn to talk, read, or write. They are dependent on caregivers for eating, dressing, and toileting. Your child’s doctor should be able to tell you the range of disability expected for the average child with the same chromosome disorder. He cannot, however, give you any more specific predictions about what your child will ultimately be able to do, assuming there are other children out there with the same disorder. Many chromosomal disorders are rare or unique, so, unfortunately, there will be very little information available.

How Common are Behaviour Challenges, and What Might I Expect?

All children have behaviour challenges—it is a normal part of growing up. However, children with disabilities are more prone to problematic behaviours for a lot of reasons. For one, their brains have developed differently, so it may be difficult for them to control their impulses, or pay attention, or sit still, or engage socially. They may act like a child much younger than they are. They may also learn that “acting out” gets them attention, and since they may not be able to ask for attention in the ways a typical child can, patterns of problematic behaviour become reinforced. A typical example is a child who cries in the middle of the night until his parents come to comfort him.

Common problematic behaviours for children with chromosomal disorders include:

Long or unpredictable temper tantrums
Self-injurious behaviours (self-hitting or biting, head-banging, etc.)
Physical aggression towards others
Hyperactivity
Lack of awareness of danger (causing behaviours like running into a busy street or jumping from high places)
Refusal to sleep, or waking during the night
Repetitive or self-stimulating behaviours (such as spinning, rocking or hand flapping)

Some children with chromosomal disorders may receive a diagnosis of an autism spectrum disorder, attention-deficit hyperactivity disorder, obsessive-compulsive disorder, and others. Some behaviour disorders are treatable with medication (like stimulants for ADHD), but most require management with kindness, patience, and consistency. A behaviour therapist or psychologist should be able to help you figure out what causes the behaviour and what steps you can take to substitute problematic behaviours with more adaptive ones. Sometimes it is as simple as giving the child a means of communication or giving him an outlet for excess energy (like a good run around the playground). Sometimes, more intensive behavioural intervention programs are required. An abrupt change in behaviour—for example, if your child has been sleeping through the night for years but is now waking up crying every night—should be brought to the attention of your child’s doctor. They may need to rule out a medical problem (for example, gastroesophageal reflux causing pain when lying flat due to acid in the esophagus).

How Can I Help My Child Move Towards Independence?

By the time your child receives a diagnosis of a chromosome disorder, you or your child’s doctor may already have concerns about her development. If that is the case, you may already have the supports in place that your child needs. If your child is diagnosed before or shortly after birth, it will be essential to monitor her development closely, and access an early intervention program to optimize developmental progress. Being proactive is important—do not wait until your child is significantly behind her peers to seek help. Start with your family doctor, who can refer your child to a pediatrician. A pediatrician can help determine which supports are needed (such as speech therapy, physiotherapy, occupational therapy, etc.), and what is available in your community. By the time your child enters school, she should have assessments done by all the relevant professionals to determine her strengths and needs so that she is placed in the proper educational setting.

As your child gets older, you will figure out what she is capable of, and you should let her do what she can for herself. Even if all she can do is choose between spaghetti and hot dogs, she needs to feel she has some control over her environment. Of course, this does not mean she should get everything she wants, all the time. Do not underestimate her—even if she cannot talk, she likely understands a lot more than most people give her credit for. Especially when it comes to getting her way with mom and dad!

You are going to need to get proactive to help your child meet their full potential. Early intervention services and programs will help you learn how to interact with your child to encourage motion and speech, as well as give you the confidence that you are doing everything you can to engage your child in a learning process. Throw out the milestone charts and celebrate all your child’s unique steps to success. They are forging their own path!