Down Syndrome
Down syndrome is a form of genetic disorder that results from abnormal cell division, which generates an extra full copy of chromosome 21 (Antonarakis, 2017). The extra genetic copy leads to physical features and developmental changes of Down Syndrome. It varies in severity within individuals hence leading to developmental delays and long-term intellectual disability. It is the most common form of a genetic disorder, leading to learning disabilities among children. It also leads to other medical conditions, such as gastrointestinal and heart disorders.
There are various physical characteristics associated with down syndrome. The facial features include children having almond-shaped eyes, flattened faces, small ears that appear folded at the top, small white spots at the eye, and a tongue that sticks out (Lott & Head, 2019). These individuals’ may also have small feet and hands with short fingers, a crease on the palm, and small pinkies which curve to the thumb.
On cognitive characteristics, Down Syndrome affects an individual’s ability to understand, think, be social, and reason. These impacts vary from mild to moderate. On most occasions, children having Down Syndrome take longer periods to achieve important goals like talking, crawling, and walking (Antonarakis, 2017). Also, as they grow older, there are higher chances that it would take the time to use the toilet and dress. In school, these children need special attention as they will require help in learning to write or read.
Individuals who have Down Syndrome have a common characteristic profile on communication and language strengths and weaknesses. These individuals have a stronger receptive language than expressive language while facing particular challenges in syntax and phonology. They also have particular developmental challenges presented in pragmatics. Many children with down syndrome have frequent difficulties in word endings, grimmer, and tenses, and they communicate using short sentences. However, to improve their situation, these individuals are encouraged to keep talking to speak clearly. Also, eye contact should be maintained with these individuals as this will improve their visual cues through listening and looking.
About visual characteristics, Down Syndrome affects eye development hence impacting vision development. Half the percentage of individuals who have Down Syndrome have eye diseases from less severe tear duct abnormalities to a final vision-threatening diagnosis like early stages of cataracts (Lott & Head, 2019). Children with Down Syndrome have eyes that are not lined up properly. They may also tend to have subtle strabismus. Moreover, the folded skin between these individuals’ eyes may cover the underlying strabismus and make their eyes look like they are crossing even if they are not in a real sense. Strabismus should be diagnosed at early stages since if not treated, and they may lead to the loss of vision.
Down syndrome is associated with various hearing characteristics as it may lead to sensorineural hearing loss, which is a permanent hearing problem appearing when the inner ear is damaged. Down Syndrome may also affect the hearing nerve. About eighty percent of children born having Down Syndrome endure hearing deficits (Antonarakis, 2017). Conductive loss is also a common characteristic that is linked to otitis media. It is common for individuals suffering from the syndrome to have smaller ear canals hence making examination difficult, and the children will have challenges in fitting earmolds.
Therefore, a better understanding of early interventions of Down Syndrome will highly enhance the quality of life for individuals with the condition hence enabling them to have a fulfilling life.
Down Syndrome and Maternal Age Graph (Antonarakis, 2017)
References
Antonarakis, S. E. (2017). Down syndrome and the complexity of genome dosage imbalance. Nature Reviews Genetics, 18(3), 147.
Lott, I. T., & Head, E. (2019). Dementia in Down syndrome: unique insights for Alzheimer’s disease research. Nature Reviews Neurology, 15(3), 135-147.