Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or
partial copy of chromosome 21, causing delays in the way that a baby’s body and brain develop. And
considered the common identifiable cause of intellectual disability, accounting for around 15-20% of the
intellectually disabled population. There are three types of Down Syndrome namely the trisomy 21,
translocation,and mosaicism. It is undoubtedly noticeable, that people who are afflicted with DS look
similar to one another, with physical attributes that include a flattened nose bridge, eyes that slant
upwards, small ears, a short neck, and small hands and feet. A child with Down syndrome suffers from
hypotonia, excessive joint flexibility, an increased risk for obesity, short limbs, and neurological and
language development delays.
My case study patient named “Angelica ”, aged 25, is dynamic and perseverant. On the year 1996,she
was born as the youngest among 9 siblings in their family.Diagnosed with Down syndrome, Angelica has
been doing physical exercises as part of her daily routine. On her 25 years of living with her,she never
experienced to study in school for she does not want to do such. Their house and garden became her
common environment as she never once tried to go out to socialize with other people and hang out in
different places.For instance, Angelica would just go out to clean their garden, fetch water and water
their plants. Consequently,these behavior appeared to be normal and goes along with the lives of the
people without the said disorder. However, she do not engage in any more physical activities such as
swimming, dancing,hiking and many more but engages in some repetitive play with oneself, considering
the fact that she never socialize with anyone outside. She experiences lack of hearing, therefore,she
does not respond effectively when her name was called and experiences limited expressive language
and/or use stereotype, repetitive utterances. Furthermore, provided the fact that Down Syndrome
Disorder causes the patients to have a slower than normal development, Angelica's family especially the
parents aged 69 and 68,suffers with a challenging behaviour of their child. Among the most often
reactions are insecurity, anxiety, denial, depression, internalized anger, externalized hostility, and
feeling of wanting an acknowledgement. Once the said patient faces these reactions, she would cry and
when the patient does not receive the treatment she wanted from her family members,she would cry
vigorously. Not withstanding with the symptoms stated above,due to lack of financial
assistance,Angelica never went to a physiotherapy and psychotherapy which is indispensable to address
the problems faced by children with Down syndrome. Making it more harder,for she was not receiving a
proper health care check and treatment.
To sum up everything that has been stated so far, the patient of this case study is a Down syndrome
disorder patient who is experiencing the several symptoms, specifically affecting her mental and
emotional health due to this particular genetic disorder. Her parents and older siblings are hereby
recommended and encouraged that their child's condition should be given attention as it may lead to a
more severe complications such as heart disease. In addition,raising children with Down Syndrome may
be tough, but when armed with the right knowledge, one will find a deep sense of fulfillment in taking
care of the child. Moreover, with a regular doctor visits, there will be a deeper understanding of the
needs of a child with Down Syndrome. Early diagnosis and intervention can help the child cope with the
condition with more certainty and thus child’s doctor can also be a strong support system for the family.