Intellectually disabled people, who 40 years ago would have died in their teens, can now live to more than 60. Since they are living longer, we are seeing the emergence of other organic problems. At a two-day event held in August by the São Paulo Branch of the Association of Parents and Friends of Exceptional Children (Associação de Paes e Amigos dos Excepcionais – Apae), doctors and researchers from the Federal University of São Paulo (Unifesp) and the University of São Paulo (USP), psychologists, therapists, lawyers, social workers and other health professionals recognized one of the major problems that is beginning to appear, the possibility of premature ageing.
In a preliminary survey carried out in 2009 in six institutions in the city of São Paulo, out of a group of 373 people with intellectual disability (or ID; the expression mentally handicapped is no longer recommended) who were over 30 years of age, 192 had at least three signs of likely premature ageing, according to a questionnaire that assesses possible memory loss, loss of independence in terms of day-to-day tasks, loss of interest in activities or the loss of sight or hearing. To get an idea of the scope of this problem, a broader and more detailed survey is being drawn up, with around 500 individuals with ID, aged between 30 and 59 and living in Greater São Paulo.
The studies that are underway are vital to “see what can be done, in terms of medical care and public policies,” explains Regina Leondarides, the coordinator of the group that is studying premature ageing among individuals with ID, a group that brings together 10 medical institutions. “We have a lot of health policies aimed at children, but policies for the ageing are only now beginning to be drawn up,” adds Esper Cavalheiro, a professor at Unifesp and chairman of the scientific council of the São Paulo Branch of the Association of Parents and Friends of Exceptional Children. “We are behind, given the fast ageing of the Brazilian population.”
A study undertaken in Spain and published in 2008 indicated that people with ID grow old prematurely – and those with Down Syndrome even more so. To reach these conclusions, the researchers monitored the health of 238 people with ID aged over 40, for five years. Apparently, this phenomenon could be avoided. The premature ageing of people with light and moderate ID is due to the lack of targeted health programs and their restricted access to medical and social services. People with ID have a greater tendency to become obese (only 25% of them had a weight regarded as normal), hypertension (25% of the total) and metabolic disturbances, such as diabetes and hyperthyroidism (10% of the total).
“Premature ageing, if confirmed, may be caused by genetic or environmental factors, regardless of intellectual disability,” explains Dalci Santos, who is a manager at São Paulo’s Apae Institute. A mathematics graduate, who is currently working on her doctorate at Unifesp, she adds: “We won’ t make much progress until we are better able to identify the cause of intellectual disabilities.” The causes may be genetic, such as in Down’s Syndrome, or environmental (non-genetic causes), including infections, low oxygenation of the fetus’ brain, alcoholism, radiation, lead poisoning during pregnancy or premature birth – often, a combination of various factors.
Environmental or genetic causes
In an article in the first issue of the Revista de Deficiência Intelectual DI magazine, launched in October and published by the Apae institute, João Monteiro de Pina-Neto, a physician geneticist physician at USP’s Medical School in the city of Ribeirão Preto, presents the results of a study on the causes of ID in 200 people who receive assistance at Apae’s branches in Altinópolis and Serrana, two towns in the Ribeirão Preto region. This study is part of a larger survey, covering roughly one thousand individuals with ID who are seen at four Apae branches. Pina-Neto and his team intend to conclude this study in mid-2012. The results obtained so far point to the predominance of environmental causes (42.5% of the total), followed by genetic causes (29%) and undetermined causes (20%).
A similar study carried out with 10 thousand people in the State of South Carolina, in the United States, presented the same percentage caused by genetic factors, with just 18% by environmental factors and 56% by unknown factors. A number of contrasts here draws one’s attention. Whereas intellectual disability caused by lack of brain oxygenation accounts for 5% of the total number of cases of ID in the United States, in São Paulo the comparable figure is 16.5%; premature delivery accounts for 5% of the cases in the US, but 14.5% in the in the São Paulo study; and the effect of infections, once again 5% in the US, is almost double this figure in Brazil, at 9%.
Reproduction Eduardo CesarThe conclusion that emerges from this comparison is that number of babies born with ID could be cut in half by implementing a few preventive measures. “Improving pre-natal care and the quality of childbirth are a priority,” stresses Pina-Neto. “We still get cases of ID caused by syphilis, German measles or toxoplasmosis contracted during pregnancy as well as post-natal meningitis,” he moans. According to him, another problem that can be controlled is alcoholism. “Between 20% and 30% of the women in the Ribeirão Preto region consume too much alcohol and, as a result, for every hundred pregnancies, one child is born with ID caused by fetal alcohol syndrome,” he says. “We don´t have a proper program in place yet to prevent the causes of intellectual disability.”
The genetic causes can be controlled, bearing in mind that the risk of a child being born with Down Syndrome increases significantly with the age of the parents. “Women are having children after the age of 35, and are therefore more likely to have children with Down’s syndrome, while men are marrying a number of times, and having children in each marriage,” states Pina-Neto. According to him, sterile men who turn to fertility clinics should be given more information about the possibility of having genetic alterations that might be transmitted to their children if they became fertile.
People with ID show much lower than average logical thinking capabilities, along with limitations in terms of learning and their ability to take care of themselves and to communicate with others. However, nowadays they are much more integrated socially, independent and productive, with more opportunities to express creativity, than they were just a few short decades ago. They attend regular schools, with other kids and adults, take part in sporting competitions and are getting more positions in the job market. Kids and adults with ID no longer go to the São Paulo branch of Apae every day to learn, but rather turn up a few times a week for specialized educational assistance or for medical appointments. The ageing support service sees 132 people aged between 30 and 67.
There are still a lot of doubts as to how best to deal with the new problems. Children and adults with ID need habits and set times to feel calm and comfortable. At the same time, rigid habits can increase the chances of Alzheimer’s, a neurological disease that is aggravated by the ageing process. And here you have a problem: keeping the routine unchanged could increase the propensity for Alzheimer’s, but breaking the routine can be stressful.
Susceptibility to Alzheimer’s
The brains of people with Down’s syndrome may exhibit one of the typical signs of Alzheimer’s: the accumulation of beta amyloid plaques, which keep neurons from working properly. A team from the University of California in the city of Los Angeles, in the United States, found much higher quantities of beta-amyloid plaques in the brains of people who had Down’s syndrome than in those who had been diagnosed with Alzheimer’s and in ordinary people.
“The biological signs of Alzheimer’s may appear before the clinical signs,” notes Orestes Forlenza, a professor at USP’s School of Medicine. “Having amyloidoisis does not mean that you will suffer from dementia in the future. What is the best future intervention? We don’t know. It may be that nutrition or physical activities are a safer alternative to medication.” Ira Lott and her team at the University of California in Irvine undertook a double-blind study over a two-year period with 53 individuals with Down’s Syndrome to see if supplementing their diet with antioxidant compounds might improve mental functions or stabilize the loss of cognitive capacity. The results, published in the American Journal of Medical Genetics in August, indicated that this was not the case.
Esper Cavalheiro raised three questions that have not yet been answered. How do the changes that are an integral part of ageing, such as cardiovascular disease, diabetes and cancer, show up in the case of people with ID? How do alterations that are frequently observed among this group of people, such as dementia and osteoporosis, behave during the ageing process? Do drugs used to treat hypertension, diabetes and other common diseases during the ageing process, work on people with ID in the same way as they do with other individuals?
Another doubt: do the control strategies of cardiovascular disease risk factors that are recommended for ordinary people, such as encouraging physical activities, have the same effect on the health of those with ID? “We think they do, but we don’t know for sure,” says Ricardo Nitrini, from USP.
According to Cavalheiro, people with ID aged 65 and above accounted for 4% of the total population at the time of the 2000 Census; this figure has now risen to 5.5%. “We cannot be satisfied with just statistics and diagnoses,” he warns. “We have must face up to this problem quickly. The more people discuss and think about these problems, the better.”Republish