Independent Learning Assignment STEM

Seeing the ups when faced with downs – the complex genetic phenomenon of Down’s syndrome

This essay was written by upper-sixth former Theo Lakin, and a finalist for the 2020 Independent Learning Assignment. The following provides a short abstract to the full essay.

Estimated read time of abstract: 3 minutes

Estimated read time of essay: 30 minutes

This essay was written by upper-sixth former Theo Lakin, and a finalist for the 2020 Independent Learning Assignment. The following provides a short abstract to the full essay, which can be found at the bottom.

Estimated read time of abstract: 3 minutes
Estimated read time of essay: 30 minutes

In my ILA I investigate the various aspects of Down’s syndrome, looking into not only the genetics but also looking at its influence on life, for that of the person with Down’s syndrome and those around them.  

Down’s Syndrome (DS) is a genetic condition which entails a set of physical, mental, and functional abnormalities as a result of an extra copy of chromosome 21 in the human genome, making 3 instead of the usual pair of two. This occurs during the creation of human sex cells (gametes) through meiotic division. It is a phenomenon known as trisomy 21, and it occurs in around 1 in 1,000 live births worldwide [THOMAS, 2019]. 

DS entails a set of very similar physical and mental characteristics for those who have it, albeit with some variation. Those with DS are also more likely to develop visual and aural impairments and are at an increased risk of leukaemia and Alzheimer’s disease. [NIA, 2017]. People with DS have an increased risk of cardiac disorders, most of which are congenital i.e. present from birth. Congenital cardiac disorders are present in around 40-60 percent of babies born with DS [PASCALL, 2015].  

Individuals with DS notably have behavioural and mental features as a result of their genes. These learning disabilities mean that it takes longer for them to develop certain skills, however level of ability certainly varies from person to person. In the past the impairment of learning ability has been overemphasised, and full potentials have only been realised in recent years due to an access to adequate education, and widespread societal acceptance.  

The genes of those with DS are the same as everyone else’s, just with an extra 1%. This is a very small amount in comparison to the whole human genome, meaning that all the rest of the genetic information is the same as it would be if the person did not have DS. [KESSLING, SAWTELL, 2002].  

People with DS are known for being particularly affectionate and happy, with an excellent outlook on life..  Over time, most teens and adults are competent with self-help and daily living skills which often allows them to lead semi-independent lives. With correct support and ambition, those with DS can strive for personal achievements such as being able to ride a bike, cooking their own meals, going to college, getting married and having a full-time job.  

A survey was completed in 1999 which concluded that teenagers with DS educated in mainstream schools are gaining considerable benefits in academic skills, communication skills and social independence [BUCKLEY, BIRD 99]. Information was collected on a wide range of issues including, health, behaviour, sexuality and social lives in addition to personal and social independence, communication skills and academic progress. The general trend showed that on average those with DS from a mainstream school were more competent with these tasks than those from the special schools. The other classmates also learn a great amount too, and it provides a valuable and eye-opening experience for everyone else within that school.  

There is no doubt that there is a truly special benefit these people with DS give to life for those around them. In a large-scale, population-based study, significantly lower divorce rates were found among families of children with Down syndrome (7.6%) compared with those of children with no identified disability (11.2%). [URBANO, HODAPP 07] This is a remarkable statistic as it shows that something like a disability does not break families apart, but instead seems to bring them closer together.  

When I was 5 years old, my younger sister, Lia, was born and diagnosed with Down’s syndrome.  While Lia (now 11) is a little different to others her age in some ways, most ways she is just like any other child. She is funny, ambitious, curious and just as annoying as my older sister. We share the same sense of humour and watching her take pride in her own achievements and activities is incredibly special. 

I hope you enjoy reading my ILA and seeing my conclusions I draw from various studies and scientific data.  

Sienna (left), Lia (centre), Theo (right) at Bodiam Castle

To view Theo’s full article, follow this link below.

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