September 5, 2019

Categories: ASD, Early Development

Know the Signs of a Dual Diagnosis of Down Syndrome and Autism Spectrum Disorder

By: Jessi Kivari, Rachel Piper, LLMSW & Suzi Naguib, Psy.D.

As a parent of a child with Down syndrome (DS), navigating the healthcare system can be difficult and tiring, and finding the appropriate resources and interventions for your child can seem incredibly daunting. Now imagine your child has a dual-diagnosis. Did you know that 2-10% of individuals with Down syndrome also meet criteria for Autism Spectrum Disorder (ASD)? What does that mean for families? With a dual-diagnosis of DS and ASD, families have more access to valuable resources and benefits for their child, such as medication and/or behavioral treatment like social skills training and Applied Behavioral Analysis (ABA) therapy. 

With this blog, parents will be able to better understand the differences and similarities between Down syndrome and autism spectrum disorder, consider if their child meets the criteria for a dual-diagnosis, and determine appropriate  next steps. 

Down Syndrome (DS) Characteristics

Down syndrome is a genetic condition that occurs when there are three copies of Chromosome 21. Physical attributes can include small mouth and nose, large tongue, almond-shaped eyes with skin that covers the inner eye, and stunted growth. Individuals with DS often experience physical challenges as well, such as vision and hearing impairments, and weight problems. DS can be detected during pregnancy through prenatal screening and diagnostic testing. According to the National Down Syndrome Society (NDSS), common behaviors of children with DS include:

  1. Disruptive, impulsive, inattentive, hyperactive and oppositional behaviors 
  2. Anxious, stuck, ruminative, or inflexible behaviors 
  3. Deficits in social relatedness, are often self-immersed, and express repetitive stereotypical behaviors 
  4. Chronic sleep difficulties, daytime sleepiness, fatigue, and mood related problems 
  5. Limitations in language skills, communication skills, and nonverbal problem solving

Autism Spectrum Disorder (ASD) Characteristics

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that impacts an individual’s social interactions and communication. Individuals with ASD also experience repetitive thought patterns, and engage in restricted and rigid behaviors. ASD cannot be detected during pregnancy, but ASD symptoms are present prior to three years of age, and are generally noticed when a child does not reach typical developmental milestones. Common behaviors of children with ASD include:

  1. Social communication challenges; spoken language can have unusual intonation, or individuals can be nonverbal
  2. Poor eye contact
  3. Limited gestures and facial expressions
  4. Difficulties recognizing and expressing individual emotions and recognizing emotions in others
  5. Repetitive use of objects and repetitive body movements
  6. Need for routine; resistance to change
  7. Narrow or all encompassing interests

Dual-diagnosis of Down Syndrome and ASD 

Symptoms of a dual-diagnosis of DS-ASD manifest in various ways. Below is a list of common characteristics in children with DS-ASD:

Research has shown that compared to children with DS only, children with DS-ASD show more impairment in social interactions and relatedness. They also show more preoccupation with body movements and object use than children with ASD alone. Moreover, children with this dual-diagnosis score higher on all five subscales on the Autism Behavior Checklist than children with only DS. 

According to the National Down Syndrome Syndrome Society, children with this dual-diagnosis may experience medical conditions that are uncommon in DS alone or ASD alone. 

  1. Congenital heart disease and anomalies in anatomical GI tract
  2. Neurological conditions, like seizures, dysfunctional swallow, severe hypotonia, and motor delay
  3. Ophthalmologic problems
  4. Respiratory problems
  5. Increased total number of medical conditions

Complete a Comprehensive Evaluation

It is critical to evaluate your child with DS as soon as possible if you suspect they may also have ASD. 

When seeking an evaluation, reach out to a specialist who has experience in working with children with cognitive impairments, such as a developmental behavioral pediatrician or a psychologist who specializes in ASD. Specialists are better equipped at distinguishing ASD from other disorders. 

Individuals with DS often have hidden medical problems, such as glaucoma, earache,  toothache, gastritis, ulcer, sinusitis, pelvic pain, and headache. These medical issues may lead your child to engage in aggressive and/or self-injurious behaviors. It is therefore important to share your child’s comprehensive medical history. With an extensive physical examination, practitioners can rule out any underlying medical conditions that may be affecting your child’s behavior. 

After a Dual-Diagnosis

There are many behavioral interventions available to help your child develop new skills. Some of the most common interventions include ABA services, and behavioral therapy. ABA is an intensive therapy that focuses on increasing behaviors that are helpful for daily living while decreasing those that are disruptive. Additionally, certain medications may be helpful to your child, as they can help target some disruptive and maladaptive behaviors, such as sleep disturbances, explosive behaviors that result in aggression, irritability and anxiety, hyperactivity and poor attention, and self-injury.  For additional support, families can also reach out to the National Down Syndrome Society (https://www.ndss.org/ ), the Down Syndrome Support Team (DSST) in Washtenaw County, and the Autism Alliance of Michigan (https://autismallianceofmichigan.org/). 

References

  1. Autism Speaks. (2019). https://www.autismspeaks.org/what-are-symptoms-autism
  2. Capone, G. T. (2019). Down Syndrome and Autistic Spectrum Disorder: A Look at What We Know. Disability Solutions, 3 (5-6). Retrieved at https://www.ndss.org/resources/dual-diagnosis-syndrome-autism/.  
  3. Elcik, Z. (2017). What are the differences between Down Syndrome and Autism? How can you take care of people suffering from these? Quora. Retrieved at https://www.quora.com/What-are-the-differences-between-Down-Syndrome-and-Autism-How-can-you-take-care-of-people-suffering-from-these. 
  4. Hepburn,S., Philofsky, A., Fidler, D.J., & Rogers, S. (2007). Autism symptoms in toddlers with Down syndrome: a descriptive study. US National Library of Medicine
    National Institutes of Health. Retrieved at https://www.ncbi.nlm.nih.gov/pmc/articles/ PMC4522941/. 
  5. National Down Syndrome Society at https://www.ndss.org/ Weijerman, M. & de Winter, J.P. (2010). Clinical practice: the care of children with Down syndrome. European Journal of Pediatrics, 169(12): 1445–1452.