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rett syndrome in canada: stats and resources  

rett syndrome is incredibly rare, affecting roughly 600 to 900 people in canada.

by angelica bottaro
published oct 07, 2024
read time 5 minute read
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read time 5 minute read
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rett syndrome primarily affects females of all races and ethnicities. getty images
rett syndrome, first described in medical literature by andreas rett in 1966, is a rare neurodevelopmental disorder that affects roughly 600 to 900 people in canada. it mainly affects females, and 95 per cent of cases develop due to a genetic mutation in the x chromosome on a gene known as mecp2. this gene plays a role in the synapses, or connections, of neurons in the brain.
when this gene is altered, it creates impairment in the central nervous system, affecting various aspects of neurological health, including communication and speaking, use of the extremities, walking abilities, eating abilities, and breathing.
in some cases, people with rett syndrome can also develop other health issues, including early-onset seizures, muscle stiffness, osteoporosis, and scoliosis. in most cases, the hallmark symptom of rett syndrome is constant and repetitive hand movements.
other clinical features of rett syndrome include:
  • autistic features
  • autonomic nervous system dysfunction
  • cardiac abnormalities
  • sleep disturbances
the variant version of rett syndrome, which accounts for a small number of cases, is correlated with changes in a different gene known as cdkl5. this gene provides the instructions to create a protein that is active in the brain and essential for brain development.

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the signs of developmental delays caused by rett syndrome typically begin between the ages of six and 18 months, when children start to miss milestones in development or lose abilities they had learned in what is called regression.
while rett syndrome isn’t degenerative, and many with the condition live well into adulthood, it can cause disability in many areas since there is no cure. in some cases, it is correlated with a reduced lifespan and an increased risk of developing life-threatening complications.

rett syndrome stats in canada

rett syndrome occurs at a frequency of 1 in 10,000 to 20,000 live birth cases. in canada, roughly 600 to 900 people have rett syndrome. roughly 90 to 95 per cent of cases are caused by mutations in the mecp2 gene, with 99 per cent of those occurring without cause.
in parents with the genetic mutation or rett syndrome, the chances of them passing down the mutated gene is 50 per cent. in parents that have one child with rett syndrome, there is a one per cent chance that other children they have will also have the disorder.
there is very little data on the prevalence of the syndrome and who it affects, but females are the most likely to develop rett syndrome, and it can occur in people of all races and ethnicities. girls affected by rett syndrome will develop symptoms by the age of 12, with some symptoms beginning as early as 3 months of age.
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a small number of males have developed rett syndrome and its symptoms without having the genetic mutation. males presenting with rett syndrome are also likely to have another unrelated and common genetic disorder known as klinefelter syndrome.
it is unknown what drives rett syndrome in males without the gene mutation, but some theories suggest that it could be mosaicism, a term that describes when one parent has some reproductive cells that have the mecp2 gene mutation.
little is known about the prevalence of symptoms in rett syndrome, but current data suggests that up to 90 per cent of females with the syndrome will also develop seizures alongside other symptoms.
roughly 85 to 90 per cent of people with rett syndrome will also experience growth failure during development and muscle wasting that gets worse as a person gets older. roughly 61 per cent of children with rett syndrome will also have autism spectrum disorder.
rett syndrome has been associated with a reduced lifespan. however, many people with the syndrome live well into their 50s. according to data, as many as 77.8 per cent of people born with rett syndrome live to the age of 25 or beyond.
the reduced lifespan and death rate in rett syndrome are often attributed to complications that affect cardiorespiratory health. pneumonia and issues with the heart are the most notable causes of death in rett syndrome. roughly 25 per cent of all deaths in rett syndrome are sudden or unexpected, often attributed to heart irregularities.
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because rett syndrome is so rare, it can be misdiagnosed as other conditions. the rate of misdiagnosis is not well documented.

resources and support for rett syndrome in canada

the rarity of rett syndrome causes resources to be scarce in the country. that said, there are several provincial organizations dedicated to helping children and their families living with rett syndrome find access to the proper medical care, treatments, and clinics.
the patient organizations also aim to encourage more research and documentation on rett syndrome to ensure that the numbers of people living with the condition are adequately documented and that new treatment avenues and pathways are explored on a timely basis.
the ontario rett syndrome association is a not-for-profit charity organization geared toward parents, caregivers, researchers, and medical professionals. its goal is to support families and research projects in a way that positively progresses the understanding and support of people living with rett syndrome.
the site offers information and support for those living with the condition, such as programs and initiatives to help them gain access to government support, such as the disability tax credit and disabled person parking permits.
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it is also partnered with the canadian rett syndrome registry, which is designed to help document new cases and assist those with the condition in finding clinical trials or drug access.
other provincial organizations that provide resources and support for people living with rett syndrome include:
local hospitals across the country also have their own departments dedicated to rett syndrome, such as the children’s hospital of eastern ontario, the holland bloorview kids rehabilitation hospital, the thames valley children’s centre, the rett clinic at the glenrose rehabilitation hospital, and the bc children’s hospital neurological care centre.
living with rett syndrome can be debilitating for many people from childhood up until adulthood. the clinics and organizations dedicated to research, funding, and resources work tirelessly to create more accessible care, better treatments, and support for those with the condition and their families.
angelica bottaro
angelica bottaro

angelica bottaro is the lead editor at healthing.ca, and has been content writing for over a decade, specializing in all things health. her goal as a health journalist is to bring awareness and information to people that they can use as an additional tool toward their own optimal health.

read more about the author

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