From 1862 to well into the 1970s, sufferers of a particular congenital disorder became known as being “mongoloid”, or as having “mongolism”. These terms were coined by English physician John Langdon Down who was able to individualize the disorder from other mental disabilities. He chose these particular labels because, in his opinion, the sufferers had features similar to natives of Mongolia.
However, by the mid-1970s these terms were looked upon as being inaccurate and somewhat pejorative, and so were cast aside. Adopted in their place was the term, “Down’s syndrome,” after the physician that had previously individualized the condition, and today remains the accepted term for this form of sufferance.
Historically, sufferers of this disorder faced a bleak future, often being institutionalized, or abandoned and ostracized by the wider society. This meant they were often unable to access the medical treatment they required for the numerous health issues associated with the syndrome, such as, heart disorders, vision defects and intestinal problems. Due to lack of care and understanding, many children died prematurely in infancy or early adulthood.
Thankfully, Down’s syndrome is present in less than 1% of live births, but for those born with the syndrome, the parents and carers, life can be very challenging. Although in the past, those with Down’s syndrome could not expect to live a long life, in today’s more enlightened world, and with the rapid advances in medical science, sufferers now commonly live beyond sixty years.
Understanding Down’s Syndrome
Typically, human cells contain 46 chromosomes, of which 23 are inherited from each parent. In the 1950s karyotyping advanced the understanding of chromosomes. Karyotyping enabled chromosomes to be identified by their shape, and importantly, by number. This led to the discovery that Down’s syndrome sufferers had 47 chromosomes, as opposed to the normal 46.
Further studies showed that those suffering with Down’s had an additional copy of chromosome number 21, and that this was the cause of the disorder. This is often called trisomy 21. It is this additional piece of DNA that causes the recognizable physical appearance of those with Down’s syndrome, along with the other health, behavioral and development issues that the sufferers contend with.
There are now 3 recognized forms of Down’s syndrome. Trisomy 21 remains the most common form, and accounts for around 95% of the sufferers. This is the straightforward duplication of chromosome 21 in each of the body’s cells.
The second most common, accounting for around 3% of sufferers, is translocation Down’s syndrome. In this form of the disorder the duplicated chromosome 21 attaches itself to another chromosome and is the only form of the syndromes that can be inherited from a parent.
Accounting for about 2% of Down’s syndrome cases is the mosaic form of the disorder. This is the rarest form of Down’s syndrome, and it occurs when some cells have a duplicated chromosome 21 and others do not.
Understanding the differing types of Down’s syndrome is essential in the treatment the sufferer receives. Only by accurate diagnosis by skilled physicians can the nuances between the forms of the disorder be precisely determined, and an efficient treatment plan be tailored to suit each individual patient.
Diagnosis and Treatment for Down’s Syndrome
Typically, diagnosis of the disorder is first, and in some facilities the only, undertaken via a physical examination. Doctors will look for visual signs, a short neck, upward slanting eyes, and a slightly flattened facial profile. Additionally, hands, feet and ears will appear comparatively small, deficiency in muscle tone and a single crease spanning the palm of each hand.
Although these are indicators of Down’s syndrome, they can only be done post-natal. Modern, dedicated Down’s syndrome facilities, such as Bangkok’s Genetic and Down’s Syndrome Clinic, will check for Down’s syndrome pre-birth. This can be done in one of several ways, by amniocentesis, chorionic villus sampling or (CVS) and via percutaneous umbilical blood sampling or (PUBS).
Amniocentesis is where a sample of the amniotic fluid is taken from the amniotic sac which can then be laboratory tested for the extra chromosome. CVS sampling is undertaken by extracting a sample of cells from the placenta is taken, this can then also be laboratory tested for the extra chromosome. PUBS is where a blood sample is taken from the fetus and the testis in the laboratory for the extra chromosome.
It is only by carrying out these laboratory tests can the exact form of Down’s syndrome be properly ascertained, and thus the patient’s customized treatment be created. All Down’s syndrome sufferers are individuals, and have their individual health, behavioral and development problems. The Genetic and Down’s Syndrome Clinic in Bangkok puts this at the forefront of thinking when designing each patient’s treatment plan.
Treatment for Down’s syndrome at the clinic is muti-faceted, with each element of a tailored treatment plan interacting and complimenting every other element. This will include physical therapy to improve muscle movement which aids in the ability to sit and to walk. Occupational therapy helps the patient to become competent at common, everyday tasks, such as dressing themselves, eating and using modern devices.
Speech therapy is an important part of every treatment plan and aims to develop a Down’s sufferer’s social, formal, and informal communication skills. Emotional and behavioral therapy equips the patient with the ability to respond appropriately to others. This overlaps with behavioral counseling which addresses associated conditions, like autism, ADHD, and other compulsive behavioral issues.
The clinic can advise and assist in the supply of specialized devices designed to assist and overcome many of the physical challenges faced by Down’s syndrome sufferers. This may be as simple as seat cushions, pencil grips or walking aids. Equally, there may be a need for more technical devices, such as hearing aids or large button phones and keyboards.
For some sufferers, surgical treatment may be required to correct health issues that Down’s syndrome sufferers have a tendency towards. This may include surgical intervention for congenital heart disease, to correct hearing or vision defects, thyroid, and digestive problems.
At the Genetic and Down’s Syndrome Clinic in Bangkok, modern medical diagnostics and treatment, supported by technology, combine with personal one-one therapy undertaken with compassion and understanding. It is this approach which has made this facility a world leader in the treatment of Down’s syndrome, for the Indigenous population, expats, and visitors from across the world.