Paul Crowley watched helplessly as his 17-year-old son with Down syndrome withdrew from the family into a fantasy world in a case of Down syndrome regression disorder.
Very little is known about the disorder, which manifests as a marked setback in cognitive function. The disorder can occur as young as 14 years old, but 18 to 25 is more common. Symptoms include a regression in speech, a loss of daily living skills and a change in behaviour.
“In the 1980s, the average lifespan of a person with Down syndrome was only 25 years old, so most of the early research has been done on children,” said Crowley, president of the Greater Victoria Down Syndrome Society.
“We are in uncharted waters as far as research and understanding of age-related effects of the condition, as the longevity is now approaching 60 years old.”
Crowley said that it can be troubling for caregivers to experience the onset of the disorder, which occurs in adolescence.
“Some recover. Some not. We lost our 17-year-old son to a fantasy world for a year,” said Crowley of his son, who recovered and is now 19.
The Greater Victoria Down Syndrome Society was created in 1990 to advocate for individuals and families, offer programs and services as well as educate the public on the condition, which was first described by John Langdon Down in 1867.
Down syndrome happens by chance, affecting one in 800 live births. It is the most common genetic disorder in the world, with screening for the condition available during pregnancy.
There are an estimated 300 to 400 individuals with the condition in Greater Victoria and around 800 on Vancouver Island.
There are three types of Down syndrome: The vast majority, 98 per cent, have trisomy 21, where each cell in the body has three copies of chromosome 21 instead of the usual two. About 1.5 per cent have Translocation Down syndrome, where an extra part, or whole chromosome 21, is attached (or trans-located) to a different chromosome, and the remainder, about 0.5 per cent, have Mosiac Down syndrome, where some cells have three copies of chromosome 21 and others have the typical two copies.
The extra chromosome 21 leads to delays in mental and physical development, as well as identifying physical features of those with the condition — a flat facial profile, a slant to their eyes and, in some, a tendency for the tongue to stick out.
Longevity comes with unforeseen challenges.
Along with Down syndrome regression disorder, some young adults experience what is best described as accelerated aging, with many exhibiting early-onset Alzheimer’s in their 30s and 40s. In the general population, early-onset Alzheimer’s is usually seen in people 60 to 70.
“Studies so far have been on the younger set. More research is needed on aging,” said Crowley.
Individuals with Down syndrome present a wide spectrum of cognitive abilities, with some leading independent, normal lives. There are a number of agencies offering training and support services for clients seeking employment opportunities.
“It’s important to point out that more and more employers are seeing the ability, not the disability in their employees,” said Crowley.
Another unintended consequence of an aging Down syndrome population is the issue of their continued care. Their caregivers are older as well and many are finding it increasingly more difficult to care for their adult children, many of whom are still living at home.
“We are seeing some, who are in their mid-30s, ending up in retirement homes,” said Crowley. “People just don’t know what to do with them.”
He said that some of the issues can be traced to supports to enable independent living. Most funding for supports stops when a child reaches 19, commonly referred to as “aging out.”
“Currently, the level of funding support is well below the poverty line. People are penalized for working or getting married,” he said. “Work still needs to be done to provide the necessary support and options for individuals to promote independent living. Individuals with Down syndrome have the same needs and wants as the rest of us — they merely want to have the same opportunities.”
