Its not easy to diagnose a child who has Down Syndrome (DS) with Autism or Autism Spectrum Disorder (ASD). Autism is considered a complex condition with a broad range of symptoms and difficulties. Children with autism are considered to be on the more severely affected end of the ASD scale.
It is suggested that between 16 – 19% of children with DS also have ASD, with 8 – 9% being diagnosed with autism, although some studies suggest the rate is higher. Diagnosis is based on symptoms in three areas: social impairment, communication impairment and repetitive behaviour. It is recommended an experienced clinician conduct the assessment. The diagnosis is considered more difficult to make in a child with intellectual disability as the risk of improper diagnosis exists.
While there is no doubt that a dual diagnosis exists, the symptoms of ASD are considered to be different in children with DS who are more likely to be more compulsive and ritualistic than other children with autism. Its also suggested that children with DS may have behaviours similar to ASD, even though they may not actually have ASD. Compulsive behaviour, insistence on sameness and restricted preferences occur in children with DS with and without ASD. Children with DS who have ASD are more cognitively delayed and have more difficulty with behaviour than those without ASD.
So, what can be done about it?
The cause and treatment of autism in typical children is not a mystery. Biochemist and Naturopath Dr Amy Yasko defines autism as “A Multifactorial condition, with genetic, infectious and environmental contributors”. She has lectured all over the US and written several books on the topic for almost ten years. Her treatment approach has been used successfully by thousands of parents whose children have ASD. Children with DS are different biochemically, but I believe we can learn alot from her research to support the treatment of children with DS who have a dual diagnosis.
Yasko’s treatment includes:
1.Identifying mutations in the methylation cycle and addressing them using targeted intervention.
What makes methylation so crucial to health is that mutations will affect the way our body copes with infectious and environmental triggers. A healthy methylation cycle ensures that methyl groups are produced and delivered all over the body. Methylation is involved in almost every reaction in your body and occurs over a billion times a second in our cells. It affects digestion, immunity, neurotransmitters, metal detoxification, energy production and many more critical reactions in the body. Inefficient methylation function results in alzhemier’s, autism, cancer, chronic bacterial/ viral infection, diabetes, leaky gut, thyroid dysfunction and many other body functions.
Do children with DS have problems with methylation?
Absolutely. The CBS enzyme sits on Chromosome 21 and is overexpressed in DS. It affects methylation as it is part of the cycle and sits at the junction between homocysteine and the transsulfuration pathway. In its overexpressed state it sends nutrients which should be used to make methyl groups, down the transsulfuration pathway creating excess ammonia and sulfites. If your child is taking a supplement of methylcobalamin and methylfolate they will be replacing these nutrients, enabling methylation to function efficiently. If not, your child will be more susceptible to poor methylation and more vulnerable to developing the conditions described above. Several factors which inhibit the absorption of Vitamin B12 need to be considered including poor stomach acid, Helicobacter Pylori infection, lack of intrinsic factor. Folate absorption can be compromised if SIBO, poor diet and dysbiosis exist.
To add to this children with DS can have methylation cycle mutations like typical people such as MTHFR, MTR, MTRR, VDR, MAO, COMT which are indicated on a DNA test. If these mutations aren’t addressed, this can slow down methylation too, compromising neurology, immunity and creating a body with poor detoxification capacity. A practitioner can help you identify which mutations need addressing and how to address them.
2.Environmental Factors
The level of toxic metals in the environment has increased dramatically in the past 50 years with industrialisation. Levels of toxic metals such as lead, mercury and aluminium are found in our bodies at levels higher than what is recommended for optimal health. Epidemiological studies demonstrate the impact of lead on a developing child’s brain is at lower levels than first estimated. Mercury is neurotoxic even at low doses, and many children are born with unsafe Mercury levels. Mercury also enters the body as a preservative in vaccines. Aluminium increases the replication of bacteria in the gut. These metals inhibit DHPR, a key enzyme which recycles BH2 to BH4. Low levels of BH4 result in low levels of neurotransmitters dopamine and serotonin which leads to poor speech, mood, behaviour, focus and speech.
How does carrying excess levels of toxic metals impact our health?
Inflammation is a symptom of heavy metal toxicity with alot of negative health impacts ranging from seizures to irritability, memory loss, confusion, fatigue, fear, anxiety insomnia and more. According to Yasko, autism develops from an underlying condition of chronic neurological inflammation resulting from systemic inflammation. Limiting exposure to toxic metals is important for people at risk of developing neurological inflammation.
Children with DS not receiving targeted nutritional support, experience a pro- inflammatory burden due to overexpressed genes. A heavy metal load contributes to this existing state of inflammation exacerbating poor neurological development.
Yasko’s approach to the detoxification of heavy metals involves supporting the methylation cycle. When methylation is optimal, we can detoxify more easily. Poor methylation function undermines our ability to detoxify, and we are more likely to hold onto metals and store them in cells, tissues and DNA. This burden of stored metals creates health problems.
3. Infectious Agents
Heavy metal loads aren’t the only thing that will cause neurological inflammation. There is a whole range of bacteria, viruses, parasites and fungi that people harbour in their system simultaneously. Our immune system is supposed to protect us against these invaders, but when its overwhelmed, or if there’s a lack of methylation cycle function, it can’t respond, allowing these pathogens to invade and multiply.
Streptococcus Infection
Streptococcus infection (and the antibiotics used to treat it) can lead to intestinal permeability which causes leaky gut. Leaky gut leads to a depletion of glutathione, one of the body’s most potent antioxidants and important defence against viruses. Strep flourishes in a high glutamate, low glutathione environment. So higher levels of Strep can result from depleted glutathione and also act to deplete glutathione. To add to this decreased methylation function leads to decreased glutathione.
Children with DS are born with a deficiency of glutathione due to the overexpression of SOD1. Overexpressed SOD1 creates high amounts of Hydrogen Peroxide (H202) which is typically converted to water by catalase and glutathione, but in DS glutathione becomes depleted as it can’t keep up with the overproduction of H202. Antioxidant nutrients such as Vitamin A, C and E are given to children with DS to prevent the toxic effect of H202 overproduction. Selenium, Vitamin D3 and other nutrients support the production of glutathione. Chronic Strep infection can deplete both T and B cells, creating a cycle of depleted immune response and chronic infection. The balance between B and T cell function can be impaired by poor methylation.
Yasko suggests that chronic bacterial infection hide toxic metals in the body making them hard to detect on tests. When high levels of bacteria, yeast, parasites and viruses are eliminated there is often a corresponding release of metals from the system which can be tracked with biochemical testing. There is often a dramatic improvement in children’s symptoms during this time.
While autism and ASD display different characteristics in DS compared to typical children, it is conceivable that their origins are similar; genetics, environment and infectious disease which increase an existing pro-inflammatory state and further compromise the body’s ability to function optimally. Children with DS need support for gene overexpression to reduce inflammation. Secondary to this, mutations, heavy metal toxicity and infectious diseases should be addressed to reduce the symptoms of ASD.
If you are interested in reading more about Dr Amy Yasko’s approach to treating ASD I recommend reading her book “Autism: Pathways to Recovery”.
Yasko, Amy 2009 “Autism: Pathways to Recovery”, Neurological Research Institute, Bethel, Maine.
Hepburn, S. & Fidler, D. (2013) What autism looks like in a child with Down syndrome: the behavioural phenotype. Chapter in M. Froehlke, M. & R. Zaoborek. When Down syndrome and autism intersect: a guide to DS-ASD for parents and professionals. Woodbine House.
Buckley, S Autism and Down syndrome (2005) Down Syndrome News and Update 4 (4) 114-120. https://www.down-syndrome.org/updates/341/updates-341.pdf
Warner, G., Moss, J., Smith, P. & Howlin, P. (2014) Autism characteristics and behavioural disturbances in ~500 children with Down’s syndrome in England and Wales. Autism Research 7, 433-441.
DiGuiseppi, C, Hepburn, S, Davis, J, Fidler, D et al (2010) Screening for ASD in children with Down syndrome: Population prevalence and screening test characteristics. Journal of Developmental & Behavioral Pediatrics, 31(3)181-191
Hepburn, S., Philofsky, A., Fidler, D & Rogers, S (2007) Autism symptoms in toddlers with Downsyndrome: a descriptive study. Journal of Applied Research in Intellectual Disabilities, 21 (1) 48-57.
Moss, J., Richards, C., Nelson, L. & Oliver, C. (2013) Prevalence of autism spectrum disorder symptomatology and related behavioural characteristics in individuals with Down syndrome. Autism, 17, 390.
