This article was adapted from "Syndrome and Autistic Spectrum Disorder: A Look at What We Know," by George T. Capone, M.D., from Disability Solutions Volume 3, Issues 5 & 6.
During the past ten years, I've evaluated hundreds of children with Down syndrome, each one with his own strengths and weaknesses, and certainly his own personality. I don't think I've met any parents who do not care deeply for their child at the clinic; their love and dedication is obvious. But some of the families stand out in my mind. Sometimes parents bring their child with Down syndrome to the clinic -- not always for the first time -- and they are deeply distraught about a change in their child's behavior or development. Sometimes they describe situations and isolated concerns that worry them, such as their child's sudden inability to learn new signs or use speech. He is happy playing by himself; he seems to need no one else to make the odd game (shaking a toy, lining things up) he is playing fun. When they call to him, he doesn't look at them. Maybe he isn't hearing well? He will eat only three or four foods. The suggestion of a new food, or even an old favorite, brings about a tantrum like no other. He is constantly staring at the lights and ceiling fans -- not only while they pass by, but obsessively. Getting him to stop staring at the lights is sometimes difficult and may result in a scene. He requires a certain order to things. Moving a chair to another spot in the room upsets him until it is returned to its usual spot.
Some families do their own research and mention that they think their child might have autistic spectrum disorder (ASD) along with Down syndrome. Others have no idea what may be happening. They do know it isn't good, and they want answers now. This article is for families in situations like this and other, similar ones. If your child has been dually diagnosed with Down syndrome and autistic spectrum disorder (DS-ASD), or if you believe your child might have ASD, you will learn a little more about what that means and what we are learning through data collection, and you will gain insight into the evaluation process.
There is little written in the form of research or commentary about DS-ASD. In fact, until recently, it was commonly believed that the two conditions could not exist together. Without further investigation or intervention into a diagnostic cause, doctors typically told parents that their child had Down syndrome with a severe to profound cognitive impairment. Today, people in the medical profession recognizes that patients with Down syndrome may also have a psychiatric-related diagnosis such as ASD or obsessive-compulsive disorder (OCD).
Because this philosophy is relatively new to medical and educational professionals, there is little known about children and adults with DS-ASD medically or educationally.
Over the past six years, we have gathered data and studied DS-ASD at Kennedy Krieger Institute. We have collected and analyzed data from clinical medical evaluations, psychological and behavioral testing, and MRI scans of the brain. We now follow a cohort of approximately 30 children with DS-ASD through the Down Syndrome Clinic, possibly the largest group of children with DS-ASD that has been gathered.
What Should I Look For?
Signs and Symptoms
As parents, you cannot escape worrying at times about your child's development. That's common. It is also common to hear only part of the criteria for a particular label. This is especially true when it comes to DS-ASD because there is little information available on the topic. This can be especially troublesome if your child suddenly picks up a new habit you associate with ASD, such as incessantly shaking toys. The children we have seen at Kennedy Krieger Institute who have DS-ASD exhibit symptoms in several different ways, which we have separated into two general groups.
Children in this first group appear to display atypical behaviors early. During infancy or toddler years you may see:
-- Repetitive motor behaviors (fingers in mouth, hand flapping) -- Fascination with and staring at lights, ceiling fans, or fingers -- Extreme food refusal -- Receptive language problems (poor understanding and use of gestures) possibly giving the appearance that the child does not hear -- Spoken language may be highly repetitive or absent. -- Along with these behaviors, other medical conditions may also be present, including seizures, dysfunctional swallow, nystagmus (a constant movement of the eyes), or severe hypotonia (low muscle tone) with a delay in motor skills.
If your child with Down syndrome is young, you may see only one or a few of the behaviors listed above. This does not mean your child will necessarily progress to have autistic spectrum disorder. It does mean that your child should be monitored closely and may benefit from receiving different intervention services (such as sensory integration) and teaching strategies (such as visual communication strategies or discrete trial teaching) to promote learning.
A second group of children are usually older. The children in this group experience a dramatic loss (or plateauing) in their acquisition and use of language and social-attending skills. This developmental regression may be followed by excessive irritability, anxiety, and the onset of repetitive behaviors. This situation, according to parents' reports, most often occurs after an otherwise "typical" course of early development for a child with Down syndrome. According to parents, this regression most often occurs between ages 3 to 7 years.
The medical concerns and strategies for these two groups may be different. At this time, we don't have enough information available to fully assess the concerns. However, regardless of how or when ASD is first discovered, children with DS-ASD have similar educational and behavioral needs once they are identified.