Down syndrome is a condition in which in a baby is born with an extra copy of the 21st chromosome. This is why Down’s syndrome is named trisomy 21. This is a genetic disorder that causes delays in the physical growth of affected children, and also give them characteristic facial features. In addition, patients do present with intellectual disability. According to studies, the average Intelligence Quotient of a Down Syndrome patient is 50, which is equivalent to that of an 8-year-old. The parents of the patient are typically genetically normal. Studies have shown that the extra chromosome does occur by chance, and environmental factors or behavioral activities don’t play a role in the development of the disease. This disease can be diagnosed even before a baby is born. There is the prenatal screening and genetic testing. Fetuses that are diagnosed with this condition are terminated before birth. Regular screening for this kind of condition is encouraged by health authorities. Some Down syndrome patients have been able to achieve milestones, such as graduate High school, and some have been able to attain post-secondary education. The life expectancy of a Down’s syndrome patient is around 50 to 60 years of age. This disease is the most common genetic disorder globally. Down’s syndrome doesn’t have a cure. Although, proper education and support is needed to improve the quality of life of the patient Some trials have proven that kids given stem cell treatment improved significantly, especially in their physical appearance
What Are The Signs And Symptom Of Down Syndrome?
People affected by Down syndrome mostly present with physical and intellectual impairments. Adult Down syndrome patients usually have the intellect of a child. In addition, they do have a weakened immune system. Also, their growth rate is slow. They are predisposed to many other diseases such as cardiovascular diseases, blood disorders, endocrine disorders, and mental issues. Below are some of the common signs and symptoms of the Down syndrome;
- Physical: People affected by Down syndrome do have an alteration in their physical appearance. For example, most of them would typically have slanted eyes, small-sized chin, weak muscle tonicity, flat nasal bridge, large-sized tongue, and a single crease of the Palm. They might also experience sleep apnea, mostly due to the obstruction of their airways. In addition, they do have problems with their joints. This is the reason many people with the disorder do experience skeletal problems such as joint dislocation, instability of the joints, vertebral injuries and so on. Also, they do have a slow growth rate. This is why they tend to achieve the developmental milestones later in their lives. In addition, they are prone to being overweight and becoming obese.
- Heart: Individuals affected with Down syndrome do suffer from congenital heart diseases. Statistics have shown that about 40% of the patients do present with these types of conditions. Out of the affected people, about 80% present with septal defects, such as atrioventricular septal defect, or ventricular septal defect. Mitral valve problems are also common. Other types of heart conditions that patients with Down syndrome suffer from include tetralogy of Fallot, patent ductus arteriosus and so on.
- Cancer: People affected with Down syndrome do have a high risk of developing some types of cancer, such as acute lymphoblastic leukemia=, testicular cancers and so on. Studies have shown that they’re at risk of developing cancers derived from germ cells.
- Neurological Problems: Majority of Down syndrome patients do have an intellectual disability. There have been studies that have shown that they generally have a low intelligent quotient. However, this would depend on the severity of the disorder. It’s common for people affected by this congenital disorder to have problems speaking and learning languages. However, they do alright in social interactions. It is also common for children affected by this disorder to have seizures, and other neurological problems.
- Senses: Down syndrome patients typically do have impairments of their special senses. As an illustration, up to 80% of people affected by this disease present with visual problems. Some of the common visual problems include strabismus, cataracts and so on. In addition, they also have auditory problems. This occurs in about 55-90% of all children born with down syndrome. Examples of common ear disorders prevalent in Down syndrome patients are otitis media with effusion, ear infections and so on.
- Endocrine: Down syndrome patients do present with endocrine disorders such as thyroid gland diseases. Low thyroid is the most prevalent in patients of down syndrome. In addition, Type 1 Diabetes mellitus is also common.
- Digestive system diseases: Constipation occurs in about half of Down syndrome patients. One of the main causes of constipation in these patients is Hirschsprung’s Other digestive systems associated disease include duodenal atresia, pyloric stenosis, and imperforate anus. Celiac disease affects about 20% of all Down’s syndrome patients.
What Are The Causes Of Down Syndrome?
Down syndrome occurs when one of the chromosomes passed down from the parents of the patient doesn’t properly separate. The patient eventually ends up with 3 copies, instead of 2. This extra chromosome leads to different kinds of disability in the child.
What Are The Risk Factors Of Down Syndrome?
- Age: Women who give birth at old age, most times, ages above 35 are prone to giving birth to kids with Down syndrome. It’s always best for ladies to give birth in their early 20’s to reduce the risk of giving birth to a child with Down syndrome.
- Family history: People who have a relative or sibling that had the syndrome have a high chance of also giving birth to kids that’d have the disorder.
- Previous medical history: Parents who had given birth to a child with Down syndrome, do have a high chance of giving birth to another child with the congenital disorder.
Stem cell therapy and Down syndrome
Some trials have proven that kids given stem cell treatment improved significantly, especially in their physical appearance. For example, the kids treated with stem cells showed an improved muscle tonicity, developed intellect and better understanding. Stem cell therapy has a lot of potential in the treatment of Down syndrome.
References
Benejam, B. (2009). Dementia Symptoms in Down Syndrome. International Medical Review on Down Syndrome, 13(2), pp.18-21.
Riquelme Agulló, I. and Manzanal González, B. (2006). Factors influencing motor development in children with Down syndrome. International Medical Review on Down Syndrome, 10(2), pp.18-24.
