Down syndrome
Down syndrome is a common human condition, resulting from an additional copy of the whole or part of chromosome 21, usually in every cell. This genetic difference is present from conception, affecting people with the syndrome during prenatal development, infancy, childhood and throughout their adult lives.
Older mothers have a higher chance of having a baby with Down syndrome, though children are born with the syndrome to parents of all ages, and all social, racial and economic backgrounds. Down syndrome is one of the most common causes of mild to moderate learning difficulties, affecting between 1/400 to 1/1500 babies born in different countries, depending on mothers' ages as well as prenatal screening policies. Worldwide, it is estimated that 220,000 babies are born with Down syndrome every year.
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World Down Syndrome Day (WDSD) is a global awareness day which has been officially observed by the United Nations since 2012. Celebrated on March 21, the date signifies the uniqueness of the triplication (trisomy) of the 21st chromosome which causes Down syndrome.
In the field of child development, intervention signifies 'coming between' any negative or disabling effects that a developmental delay or disability might have on developmental process of a child. This is an attempt to minimize, if not to prevent, the impact of disability/delay on child development.
Intervention begins shortly after birth and usually continues until the child reaches the age of three. Children with Down syndrome who receive early help are more advanced in their development than those without such help.
A child's brain has up to twice as many synapses in the first three years as compared to an adult. There are specific milestones in each of the four areas of development of gross and fine motor abilities, language skills, social development and self-help skills which serve as prerequisites for the stages that follow.
Physical therapy focuses on motor development. For instance, during the first three to four months of life, an infant is expected to gain head control and the ability to pull to a sitting position (with help) with no head lag, having enough strength in the upper torso to maintain an erect posture. Appropriate physical therapy is aimed at assisting a baby with Down syndrome, who may have low muscle tone, in achieving expected milestone for the age.
Speech and language therapy is another critical component of early intervention. Babies with Down syndrome may not say their first words until two or three years of age, but there are many pre-speech and pre-language skills that they must acquire before they can learn to form words. These include the ability to imitate and echo sounds; turn taking skills (learned through games); visual skills (looking at the speaker and objects); auditory skills (listening to music, speech, or speech sounds); tactile skills (learning about touch, exploring objects in the mouth); oral motor skills (using the tongue, moving the lips); and cognitive skills (learning to evaluate, analyze, remember, make comparisons and understand cause and effect relationships).
Occupational therapy is aimed at helping children develop and master specific skills for independence.
The overarching goal of early intervention is to enhance and accelerate development by building on child's strengths and by strengthening weaker skills for achieving this milestone.
Improved medical care is helping people with Down syndrome live longer and healthier lives. Improved teaching techniques and therapies are also helping many children with Down syndrome. Today, when the population of young people with Down syndrome is higher than ever before, it is essential to help them lead independent and fulfilling lives.
The author is a Consultant Obstetrician/Gynecologist at Everest Hospital, Kathmandu lalitajoshi2041@gmail.com
