DOWN SYNDROME AND ITS EFFECTS ON THE INDIVIDUAL
Down syndrome is a commonly occurring chromosomal condition that occurs in people of all races and economic levels. Down syndrome occurs when an individual has a full or partial extra copy of chromosome. This additional genetic material changes the development and the physical characteristics of the individual, but they also share physical features with their parents and family. There are three types of Down syndrome: trisomy 21 (nondisjunction), translocation, and mosaicism. Trisomy is a condition where there is an extra copy of chromosome 21 in every cell. This is the most common form of Down syndrome. Mosaicism occurs when a child is born with an extra chromosome in some but not all of their other cells; some cells contain the usual 46 chromosomes and some contain 47. It is the least common type of Down syndrome, and people with this syndrome tend to have fewer symptoms than those with trisomy. In Translocation, children have only an extra part of chrromosome21. There are 46 total chromosomes, however, one of them has an extra piece of chromosome 21 attached.
All people with Down syndrome experience moderate cognitive, Speech and physical developmental problems. Individuals with Down syndrome have some degree of learning disability and delayed development, but this varies widely in every individual child. Children with the condition may be slower to learn skills such as reaching, sitting, standing, walking, and talking. A few of the common physical traits of Down syndrome are: eyes that have an upward slant, oblique fissures, epicanthic skin folds, white spots on the iris, low muscle tone, Small stature and short neck, Flat nasal bridge, deep creases across the center of the palm, Protruding tongue, Large space between large and second toe, a single flexion furrow of the fifth finger, and a low muscle tone. Every person with Down syndrome is a unique individual and may possess these characteristics to different degrees or not at all. People with Down syndrome attend school, work; participate in decisions that affect them, have meaningful relationships, vote and contribute to society in many wonderful ways. All people with Down syndrome experience cognitive delays, but the effect is usually mild to moderate and is not indicative of the many strengths and talents that each individual possess. Quality educational programs, a stimulating home environment, good health care and positive support from family, friends and the community will enable people with Down syndrome to lead fulfilling and productive lives. Individuals with Down syndrome have problem with speech production, difficulty remembering things, and difficulty hearing; these I would like to explore to find out why individuals with Down syndrome are handicapped in these areas.
Individuals with Down Syndrome have problem with speech production. The level of difficulty of speech production varies from each individual. People with Down syndrome are characterized with a small mouth with a protruding tongue, a small nose with flat nasal bridge, and hypotonia. These physical characteristics could be the possible factors that contribute to the mild speech impairment in people with Down syndrome. Speech production of individuals with Down syndrome is related to differences in the oral structure and function. (Miller & Leddy, 1998; Stoel-Gammon, 1997). The Structural differences include a small oral cavity with a relatively large tongue and high arched palate, or additional muscles that characterize facial structures, and differences in nerve innervations (Miller & Leddy, 1998) account in part, for poor speech intelligibility through dysarthric factors such as reduced speed, range of motion, and coordination of the articulators. As we see in the video “Just Like You” Rachael, Sam, and Lisa have difficulty producing speech, and the level of difficulty in each person’s speech production vary. Example, Rachael could not clearly say (my name is Rachael) and (I have Down Syndrome), so she said “Hi, me eim i specho” and “I haf dansysm”. Sam’s speech production is a bit clear, but he still have problem coordinating the muscles and the articulators to produce a perfect speech. The same applies to Lisa, but Sam’s case is better than Lisa’s. Lisa could not produce the /r/ sound, so she substitutes the /r/ with /l/ as in Down Syndrome “Dan sydlom” and chromosome “chlomosome”. Expressive language skills present particular challenges and generally are more impaired than receptive skills in young individuals with Down syndrome. Children with Down syndrome also exhibit phonological disorder like cluster reduction, and final consonant deletion, and nearly all individuals with Down syndrome may be difficult to understand some times.
People with Down Syndrome experience difficulty remembering things hence, their intellectual disability. About 80% of individuals with Down syndrome have moderate intellectual disability. Some have severe intellectual disability and others have IQ scores in the average range (Pueschel, 1995). Visual long-term memory and verbal short-term memory impairments account for people with Down syndrome’s inability to remember things easily. Children with Down Syndrome do not have the ability to focus for a long period of time and they also find it difficult to hear properly, so it is difficult for them to hear properly to encode, store, and to retrieve any verbal information that is presented to them. These affect their intellectual capability and language production. However, it is also important to note that not all individuals with Down syndrome are affected by this problem. Vallar and Papagno (1993) report the case of a young woman with Down syndrome, who, in addition to being fluent in 3 languages, had a perfectly normal verbal short-term memory span. One obvious explanation for poor verbal short-term memory performance is hearing difficulties. Though children with Down Syndrome have visual long-term memory impairment, the only way they can learn properly is through visual illustration. And with constant rehearsal, the visual long-term memory impairment can be overcome.
Finally, people with Down syndrome have difficulty hearing well. Approximately two-thirds of children with Down syndrome experience conductive hearing loss, sensorineural hearing loss, or both (Roizen, 2007), due to narrow auditory canals and cranial facial differences seen in this population. Children acquire language primarily by hearing which is also involved in the development of speech and socialization. Children need to hear the sound before they can produce it; The Difficulty in hearing sound definitely lead to impaired phonological memory and impaired speech production. Impaired phonological memory skills measured with non word repetition (repeating phoneme(s)) spoken in recording, may be associated with difficulties in comprehension of grammatical morphemes, vocabulary, reduced mean length of utterance (MLU), reading difficulty, and general language comprehension in children and adolescents with Down syndrome (Laws, 1998, 2004).
In conclusion, individuals with Down Syndrome progress slowly in almost all aspect of development as compared with normal people. However, they have their strengths as well. The readiness of society to understand and support them is what will go a long way to make life meaningful and worth living for them.
ADZOE PRISCILLA
CLIFFORD TAMAKLOE