Many may have heard of this syndrome before and others may have used it as a derogatory term to imply that someone is intellectually challenged; however, most are unaware of what it really is unless they have a friend or relative afflicted with this syndrome. Down Syndrome (DS) is the most commonly identifiable cause of learning disability in children and adults.
Persons with this syndrome are at increased risk of a wide range of medical problems which need to be identified early and treated appropriately. Because of initiatives, globally in health to achieve this, the life expectancy of people with DS has increased dramatically over the past century. Populations of people with DS surviving through childhood, into adulthood and later life are increasing. Thus, it is paramount that the average person in T&T becomes more aware of DS. Not just simply for the sake of early identification, but also to dispel common misconceptions about the potential of those with the syndrome. Turning them into an empowering and faith-restoring acknowledgement that these individuals can have a normal and life fulfilling experience.
To do this, we must first start by understanding what DS is and what causes it. As it is a genetic disorder, to understand its cause, we must be acquainted with a basic knowledge of genes and genetics. In every human cell there is a structure called the nucleus in which our genetic makeup is stored called genes. These genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes. Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. DS occurs when an individual has a full or partial extra copy of chromosome 21. Hence, another name for DS is Trisomy 21. This chromosomal anomaly is typically associated with physical growth delays; characteristic facial and physical features, a wide range of medical issues and mild-moderate intellectual disability. All these features may present in a variety of patterns. For instance, even though there may be learning and intellectual disability the severity can vary and also the likelihood of developing the various medical issues associated with DS also varies. Knowledge of the different patterns of disease is very important for general practitioners/community physicians to help to reduce medically associated complications, and to promote functioning and wellbeing in everyday life.
The diagnosis of DS in developed countries is usually made while the fetus is in the womb. But, even in these countries and more so in developing countries here in the Caribbean, the majority of diagnoses are made soon after birth. If such a scenario occurs, families should be given information about DS and offered the opportunity to discuss the diagnosis with an experienced pediatrician. This discussion should be open and honest and a balanced amount of what can be expected. This includes health needs and other issues associated with having a child, and subsequently an adult with intellectual disability. These initial discussions can influence how a family responds to their baby and the positive aspects should be described as well as any negative ones.
A comprehensive newborn check is performed to pick up and diagnose any of the medical problems listed above in order to establish what further medical follow up will be required during childhood and into adulthood. Because development is usually slow in DS babies, they may require special care in the first several days of life and in particular, may take a longer time to establish feeding. Children with DS usually take up to a month to regain birth weight, which is significantly longer than typically developing children, where birth weight is usually regained in two weeks. For DS children from birth to school age, there is a suggested schedule of health checks that continues to follow up a medical issue if it was diagnosed, or pick it up if it was missed. These include blood tests for thyroid dysfunction and other conditions, eye checks, hearing checks, growth monitoring, heart checks and breathing checks. Parents with children diagnosed with DS should ask their family physician for further information on these and if a new diagnosis is picked up the relevant referral to a specialist is made. Because delayed growth is an issue, it is important that growth is plotted on specific DS charts and primary health care practitioners offer advice and support around feeding.
Children with DS should have a named pediatrician, but it is still important for them to see their general practitioner (GP) with every illness. The GP is likely to be the main healthcare provider for adults with DS and, as more people with the syndrome are surviving into later adulthood, the role of the GP in their care is becoming increasingly important. The DS Medical Interest Group (DSMIG UK & Ireland) suggests that children should be reviewed by a pediatrician at three months, six-month, one year and then annually after that.
Review appointments offer a comprehensive, systems-based review of the child including growth, feeding, gastrointestinal problems (constipation, food intolerance), cardiac problems (including reviewing results of investigations), infection, sleep, vision, hearing, spinal assessment and behavior. Routinely, families are also asked about whether they receive disability living allowance and whether they feel they require any additional help and support.
As mentioned earlier, due to medical advancements in the diagnosis and treatment of medical conditions related to DS, life expectancy of people with DS has dramatically increased. Also, because the intellectual deficiencies in DS can be from mild-moderate, with proper developmental and psychometric assessment, a determination of what special education needs may be required for these individuals. Thus, education modalities available at special education centers, both publicly and privately, can be accessed allowing these individuals to achieve their maximum education potential. This means that we should not allow individuals with DS to be limited by their condition, as they have the potential to live almost normal, if not fully normal lives. It is possible for those with DS to attend mainstream schools and go on to live and work independently, and even marry.
Even though this is possible, here in T&T, we hardly ever see those with DS in the world of work. The prevailing idea here in T&T is that a diagnosis of DS automatically means one may amount to nothing. However, with the advocacy of organizations like the National Association for Downs Syndrome (NADS) and the Downs Syndrome Family Network (DSFM) and their workshops for parents with children diagnosed with DS, there are now a range of possibilities available to their children, challenging the limitations they have set.
Contacts for these organizations are:
Dr. Visham Bhimull
Diploma in Family Medicine (UW