As a young child whenever I see anyone with flat head and to me then funny eye and also sticking out their tongue the first thing that comes to my mind is imbicile and sometimes am always scared of getting closer to them, but as I grew older I realised how special this group of people are and have a better understanding of their condition.
United Nations has dedicated the 21st of March to celebrate and show support for people living with Down Syndrome not that they should not be shown love and support on others days but it serves as a day for creating more awareness about the condition.
According to Journal of Medical Genetics, studies of Down Syndrome covering a period of 9 years revealed an incidence of 1in 865 births in Nigeria hospitals, in order words, out of every 865 children born, 1 of them have the condition. Nigeria being a country with high birth rate there will definitely be a child with Down Syndrome out of every child born in a month in the Nigerian hospitals hence we have people with Down Syndrome all around us either as neighbours, co-workers or just randomly meeting them on the road, in a bus, bank, schools e.t.c.
Since they are also people like us with special characteristics we have to learn how to interact with them in our day-to-day lives as their special characteristics might hinder themy from being able to full fill some tasks.
Lets get acquitted with the condition
There are cells in every part of the human body and in these cells there is a nucleus, where genetic material’s is stored in genes. Genes carry codes responsible for all inherited traits and are grouped along rod-like structures called chromosome, half of which are inherited from each parent.
Down Syndrome occurs when an individual has a full or partial extra copy of chromosome 21. This additional genetic material alters the course of development and causes the characteristics associated with Down Syndrome. The characteristics vary depending on the degree.
CHARACTERISTICS OF DOWN SYNDROME
There are various characteristics of Down Syndrome which include;
1.Physical characteristics: people with Down Syndrome often have certain physical characteristics. Not everyone will have all of them, but they may include;
* floppiness( hypotonia)
* small nose and flat nasal bridge.
* small mouth with tongue that may stick out
* eyes that slant upwards and outwards
* a flat back of tea head
* broad hand with short fingers
* below average weight and length at birth.
2. Delayed Development: All children with Down Syndrome have some degree of learning disability and development, but this varies widely between individual children. They may be slow to learn skills like sitting, standing, walking and talking. They eventually developed these skills eventually, it just takes more time. According to American Medical University, around 1 in every 10 children with Down Syndrome also have other conditions such as Autism Spectrum Disorder(ASD) or Attention Deficit Hyperactivity Disorder (ADHD).
Prenatal screening: This screening is done while still pregnant, pregnant women of any age should be offered screening for genetic condition’s such as Down Syndrome. The screening done for Down Syndrome is known as the ‘Combined test’. It includes a blood test and ultrasound scan.
Post natal diagnosis: Clinical examination by paediatrician can often confirm or refute this suspicion with confidence. Systems of diagnostic criteria for such an examination include FRIED’S DIAGNOSTIC INDEX which include the following signs;
* flat face
* ear dysplasia
* tongue protrusion
* corners of mouth turned down
* neck skin excess
* epicanthic fold
* gap between 1st and 2nd toes
With 0-2 of these characteristics, the newborn can like be said not to have Down Syndrome, with 3-5 characteristics, the situation is unclear and with 6-8 characteristics, the newborn can confidently be said to have Down Syndrome.
TYPES OF DOWN SYNDROM
Down Syndrome is usually caused by an error in cell division called “Nondisjunction”. Nondisjunction results in an embryo with three copied of chromosome 21 instead of the usual two. Prior to or at conception, a pair of 21st chromosome in either the sperm or the egg fails to separate. As the embryo develops, the extra chromosome is replicated in every cell of the body. This type of Down Syndrome account for 95 percent of Down Syndrome cases.
Mosaicism is often diagnosed when there is a mixture of two types of cells, some containing the usual 46 chromosomes and some 47. Those cells with 47 chromosome contains an extra 21. It is the least common form of Down Syndrome and accounts for only about 1 percent of all cases of Down Syndrome. Research has indicated that individuals with Mosaic Down Syndrome may have fewer characteristics of Down Syndrome than those with other Down Syndrome.
This type accounts for about 4 percent of cases of Down Syndrome, the total number of chromosomes in the cells remain’s 46, however, an additional full or partial copy of chromosome 21 attaches to another chromosome usually chromosome 14.
CAUSES OF DOWN SYNDROME
Regardless of the type of Down Syndrome, people with Down Syndrome have extra chromosome 21 present in all or some of their cell’s. This additional genetic material alters the course of development and causes the characteristics associated with Down Syndrome. The cause of extra full or partial chromosome is still unknown. Some studies have shown maternal age is the only factor that has been linked to an increased chance of having baby with Down Syndrome.
MANAGEMENT OF DOWN SYNDROME
There is no standard treatment for Down Syndrome. Treatments are based on each individual’s physical and intellectual needs as well as his or her personal strengths and limitations. Some of the forms of management include:
1. Early intervention and educational therapy: early intervention refers to range of specialised programs and resources that professionals provide to very young children with Down Syndrome and their families. Some of the professionals may include special educators and social workers. Research indicates that early intervention improves outcomes for children with Down syndrome. This assistance can begin shortly after birth and often continue’s until a child reaches age 3.
2. Treat therapies: a variety of therapies cam be used in early intervention programs and throughout a person’s life to promote the greatest possible development,independent and productivity. Some of these therapies are;
* physical therapy
* speech language therapy
* occupational therapy
* emotional and behavioural therapy.
3. Drugs and supplements: some people with Down Syndrome take amino acid supplements or drugs that affect their brain activity. Newer psychoactive drugs that are much more specific have been developed.
4. Assistive Device: intervention for children with Down Syndrome involve assisting devices( any material, equipment, tool or technology that enhances learning or make tasks easier to complete). Examples include; amplification devices for hearing problems, bands that help with movement, special pencils to make writing easier, touch screen computers, and computers with large keyboard.
According to National Down Syndrome Society, there is a preferred language guide when referring to people with Down Syndrome.
* They should be referred to as people first.
* Instead of ” a Down Syndrome child” it should be ” a child with Down Syndrome”.
* Down Syndrome is a condition or Syndrome , not a disease.
* People “have” Down Syndrome, they do not ” suffer from ” it and are not ” afflicted by” it.
* ” Typically developing” or ” typical” is preferred over ” normal developing”.
* NDSS strongly condemn the use of the word ” retarded” in any derogatory context. Using this word is hurtful and suggests that people with disabilities are not competent.
I could remember seeing a video on my sisters phone being shared of social media of a young boy with Down Syndrome being asked to repeat word after a particular guy , the boy with Down Syndrome have speech disability so he couldn’t pronounce the word properly but the guy and his friends saw it as a funny scenario and made a video out of it , posted it on social media to make people laugh.
The video really made me sad but I just wondered probably the guy and his friends have no idea of the young boy’s condition.
People with Down Syndrome are to be shown love, and assisted when needed , it is not communicable so do not run from them . Do not make fun of their inability to carry out certain skills, they are specially made people and all they need is love and support so ands to feel included in the society.