Down syndrome: Dealing with the neglected condition

Every March 21, World Down Syndrome Day is marked globally, mainly to raise public awareness and create a voice to advocate for the rights, inclusion and well being of people with Down syndrome. With support, children with Down syndrome can lead normal lives It is estimated that about 85 per cent of infants with Down syndrome survive one year, and that 50 per cent of those will live longer than 50 years worldwide. In Rwanda, there are several organisations that help rehabilitate children with this condition as well as helping them to fit in the community. According to Dr Celestine Karangwa, a physiotherapist at TCM Technology Clinic in Kicukiro, Kigali, people with Down syndrome need support and attention from the community. This is because most of the time, rehabilitation is the main ingredient to treatment. “What parents should understand is that this condition has no cure. By supporting such people, we help them fit in the community as well as feel valued,” he says. Karangwa, however notes that most of the time parents with children having Down syndrome are always depressed as well and sometimes fail to handle the situation. The best thing, he says, is to seek counselling and to teach them how to live with such children since the condition is long-term in nature. What is Down syndrome and who is at risk? Dr Jean Pierre Nteziryayo, the director of Home de la Vierge de Pauvres (HPV) Gatara, in Gikondo, an organisation that supports children with disabilities, says Down syndrome, also known as trisomy 21, is a condition where individuals have 47 chromosomes in each cell instead of 46. “Trisomy 21 is caused by an error in cell division called nondisjunction, which leaves a sperm or egg cell with an extra copy of chromosome 21 before or at conception,” he says. Nteziryayo says one of the risk factors of Down syndrome is aging in mothers. Professional help should be solicited for children with Down syndrome . / Photos by Lydia Athieno. He explains that as a woman’s eggs age, there is a higher risk of the chromosomes dividing incorrectly. Therefore the risk of Down syndrome increases with a woman’s age. Nteziryayo adds that if a woman had a previous child with Down syndrome, there is high possibility or her giving birth to another child with the same condition. “Generally, couples who have had one child with Down syndrome have a slightly increased risk of about 1 per cent of having a second child with Down syndrome,” he says, noting that a career patient also stands a high risk of having a child with the condition. Nteziryayo says people with Down syndrome rarely reproduce. “Fifteen to 30 per cent of women with trisomy 21 are fertile and they have about a 50 per cent risk of having a child with Down syndrome” he says. Symptoms of Down syndrome can range from mild to severe, according to Nteziryayo. For instance, he says mental and physical developments are usually slower in people with Down syndrome than for those without the condition. “Also, infants born with the condition may be of average size, but grow slower and remain smaller than other children of the same age.” According to Mayo Clinic, children with Down syndrome have a distinct facial appearance. Though not all children with Down syndrome have the same features, some of the more common features are: Flattened facial features, small head, short neck, protruding tongue, upward slanting eyes and unusual for the child’s ethnic group. Other features include, unusually shaped or small ears, poor muscle tone, broad, short hands with a single crease in the palm, relatively short fingers and small hands and feet, excessive flexibility, tiny white spots on the colored part (iris) of the eye called Brushfield spots and short height. In general, for infants with the condition, developmental milestones, such as sitting and crawling, occur at about twice the age of children without impairment. How best can patients be rehabilitated? According to Raymond Awazi, ,a pediatrician at La Croix Du Sud at Kisementi, Kigali, this condition has no cure, but therapies and treatment of other conditions that come with it is helpful. “In most cases, children with Down syndrome are always prone to problems such as congenital heart diseases, dementia, skeletal conditions, hearing problems, seizure disorders and cataracts, among others. This can be treated while the condition itself can be managed through therapy,” he says. Awazi notes that in order for patients to improve motor skills, they need to be offered occupational therapy in form of exercises as well as speech therapy. They also need special attention and education. At HVP Gatara in Gikondo, the organization, for instance, has programmes that help children with Down syndrome. Placidie Mukashimana, a special needs education teacher, says parents together with people in the community should not discriminate against children with Down syndrome, but rather know that with good care and support, such children can grow up to have healthy, happy and productive lives just like any other normal person. “Depending on the level of the condition, we always start from the scratch. In most cases, children with Down syndrome always don’t know how to coordinate their entire body. Their bones and muscles are not strong, so first teaching them how to be firm is essential,” she says. “However, for small children, they need a lot of support and attention as they don’t know how to sit, eat and even ease themselves. Supporting them in all this helps them to adapt to the services and with time they learn how to get along well.” Mukeshimana points out that the mistake most parents make is putting such children in normal, contemporary schools. This, according to her, complicates everything as the child continues growing up without any special support, thus delaying speech and learning how to co-exist with others as well as being independent. “There is a need to educate the entire community that children with this condition can play and still do activities that are done by normal people. Also, discriminating them is not the solution; when they are supported, they can learn how to take care of themselves, which prevents them from continuing being dependent on others,” she says. On the other hand, Grace Tusifu, another special needs education teacher at HPV Gatara, says such children have low cognitive abilities. Therefore, teaching them through experimentation is essential. “When they are taught this way, it’s easier for them to understand and with time be in a position to support themselves. As caregivers of these children, we have noticed that there is a big change from the time they are brought in and when they have spent some time with us,” she says. On the same note, Tusifu says parents with such children need counselling support to ensure that they think positively about the future of their children. “For instance, there are some cases where parents are filled with this notion that when they bring their children here, they will be transformed into normal people immediately. When this doesn’t happen, they give up and continue bringing them mainly to relieve themselves as they see them as a burden at home,” she says. She explains that most of these children take quite long time to adjust and be able to live a normal life. For this reason, Tusifu says they always develop individual plans with the parents and their children on how to go about the therapy. “Afterwards, such children may have special sessions where they are being monitored and helped in specific challenges. Parents are also informed about which activities they should give their children back at home so that what they are taught at school is what they practice at home, to avoid confusing them,” says Tusifu. Physical therapy helpful Karangwa says children with Down syndrome can as well benefit from physical therapy, especially if they start at a tender age. “It helps them to minimise the development of abnormal compensatory movement patterns which such kids are prone to developing,” he says. Karangwa points out that therapy such as reflexology provides relaxation, improves the child’s mood, eases tension and increases social interaction and general well-being of the child. He notes that another form of medication for such children is acupuncture. Karangwa explains that this is a system of complementary medicine where fine needles are inserted in the skin at specific points along what are considered to be lines of energy (meridians), used in the treatment of various physical and mental conditions, including those with Down syndrome condition. “These needles help in increasing the memory of the child with Down syndrome.” Apart from that there are medicines that are accompanied with such therapy. “Medicines with calcium are given to strengthen their bones, as well as those that aid in blood circulation in the brain. With these medicines, they are assured of improving a lot,” he adds.

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Down syndrome: Dealing with the neglected condition