Down Syndrome and Autistic Spectrum Disorder: A Look at What We Know

BY GEORGE T. CAPONE, M.D. 
ADAPTED FROM DISABILITY SOLUTIONS VOLUME 3, ISSUES 5 & 6

During the past 10 years, I’ve evaluated hundreds of children with Down syndrome, each one with their own strengths and weaknesses, and certainly their own personality. I don’t think I’ve met a parent who does 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 has stopped learning new signs or using speech. He is happy playing by himself, seeming 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 only eat 3 or 4 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 just 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 they think their child may 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 may have ASD, you will learn a little more about what that means, what we are learning through data collection, and insights to 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. Parents were told their child had Down syndrome with a severe to profound cognitive impairment without further investigation or intervention into a diagnostic cause. Today, the medical profession recognizes that people 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, it is common, if not expected, for you to worry at times about your child’s development. 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 present symptoms in several different ways, which we have separated into two general groups:

GROUP ONE

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, and
  • 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 they 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.

GROUP TWO

A second group of children are usually older. This group of children 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 is most often reported by parents to occur following an otherwise “typical” course of early development for a child with Down syndrome. According to parents, this regression most often occurs between ages three to seven years.

The medical concerns and strategies for these two groups may be different. There is not enough information available to know at this time. However, regardless of how or when ASD is first discovered, children with DS-ASD have similar educational and behavioral needs once they are identified.

http://www.ndss.org/resources/health-care/associated-conditions/dual-diagnosis-of-down-syndrome--autism/

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