Smiling little girl with mosaic down syndrome playing with finger paints

As you may know, Autism Spectrum Disorder (ASD) is a relatively common neurodevelopmental disorder, with roughly 1 in 59 children diagnosed with it each year in the United States. Although the exact cause of Autism is unknown, it is thought to be a genetic disorder; in fact, about 5-10% of all ASD diagnoses are associated with chromosomal abnormalities or monogenic disorders– an observation that has only been minimally studied or looked at.

Over the last few years, there has been an increase in the number of children who have a dual diagnosis of Down syndrome and Autism, but does this mean that the two are linked? Not quite. Although there have been connections between the possible chromosomal abnormalities, each is its own condition and must be treated as such. At Simple Spectrum, we believe in the power of information, and that is why we are going to discuss other misunderstood conditions today, such as Down syndrome and Mosaicism (Mosaic Down syndrome). We will also discuss why there has been a noticeable increase in the amount of dual diagnoses with these conditions amongst children.

What is Autism?

Autism Spectrum Disorder is a complex and often misunderstood neurodevelopmental disorder. The diagnosis itself is an umbrella term used for a broad spectrum of symptoms that fall underneath it. Individuals with ASD do not all experience the same symptoms, and a diagnosis will be accompanied by a Level 1, 2, or 3 diagnosis. The levels are determined by severity or necessary level of care and can only be diagnosed by a physician or psychiatrist. The three levels of ASD replaced the following five types of Autism:

  • Asperger's Syndrome
  • Childhood Disintegrative Disorder (CDD)
  • Pervasive Developmental Disorder - Not Otherwise Specified (PDD-NOS)
  • Classic Autistic Disorder or Kanner's Syndrome
  • Rett Syndrome

Although some of these terms are still used today, they have not been medically recognized since 2013, when the Diagnostic & Statistical Manual of Mental Health Disorders (DSM-5) was updated. Individuals with Autism do not have specific physical features or symptoms. Still, they generally face challenges involving social interaction, verbal or non-verbal communication, repetitive behaviors, restrictive behaviors, and picky eating. Symptoms of ASD can begin as early as 1 to 2 years of age and are usually noticed when a child may not be taking a bit longer to reach developmental milestones like speaking, going to the bathroom, etc.

Many parents have reported improved ASD symptoms in their children due to applied behavior therapy, sensory activities, and general support. However, one of the most compelling and surprising ways parents have noticed improvements in their children is through nutritional support using products like Simple Spectrum Supplement or a DHA Supplement.

Mosaic Down Syndrome

So, what is Mosaic Down Syndrome? To better understand Mosaic Down Syndrome, or Mosaicism, we must first take a step back and define Down syndrome (DS), a term that you most likely have heard before. The most basic definition of DS is a chromosomal disorder in which a person is born with an extra chromosome. Typically, babies are born with 46 chromosomes (23 from each parent) and babies with Down Syndrome have an extra copy of chromosome 21– which is why DS is sometimes referred to as Trisomy 21. The extra copy of the chromosome affects how the baby's body and brain will develop, which may cause mental and physical challenges for the baby as well. This leads us to the rarest type of DS, Mosaic Down syndrome.

When a baby is diagnosed with Mosaic Down syndrome, it is because there is a mixture or combination of cells. For example, some cells contain the average amount of chromosomes, while others contain the extra copy of chromosome 21. So the main difference between the two conditions is that in standard DS, there is an extra chromosome in all of the baby's cells; in Mosaic Down syndrome, there is only an extra chromosome in some of the cells.

Children born with mosaic Down syndrome may have similar features as other children with DS, but they may have fewer features or symptoms since the extra chromosome is only present in some cells.

Autism vs. Down Syndrome

As we mentioned, there has been an increase in the number of children with Down syndrome who are also being diagnosed with Autism Spectrum Disorder. Although there are a lot of similarities between the two disorders when it comes to genetics or environmental factors, the symptoms for each are incredibly different. But what do signs look like when someone has a dual diagnosis? Symptoms of a dual diagnosis can manifest in various ways, but the most common usually has to do with increased impairments when it comes to social interaction and communication. It is also interesting that children with dual diagnoses score higher on the Autism Behavior Checklist.

Parents of children with DS who have noticed behavioral changes or issues can find solutions through ASD treatment options such as nutritional intervention or even Applied Behavior Analysis.

It has also been observed that children with both ASD and DS may experience medical conditions that are uncommon to each diagnosis individually:

  • Respiratory problems
  • Congenital heart disease
  • GI Tract issues
  • Seizures, motor delay
  • Ophthalmologic problems

If your child has been diagnosed with ASD, Down syndrome, Mosaic Down syndrome, or a dual-diagnosis, just know that it is a lifelong journey. The more information and resources available to you, the better off you both will be. There are no "cures" for ASD or Down syndrome, but a better understanding of these diagnoses can lead to better solutions and an improved quality of life for your child.