DOWN SYNDROME
Sinadjan, Antonio
Emano, John David
Galolo, Andrea Pauline
Introduction
Down syndrome is one of the leading causes of intellectual disability and millions of
these patients are faced with various health issues including education and memory, heart
diseases (CHD), Alzheimer’s diseases (AD), leukemia, cancer and Hirschprung disease (HD).
The incidence of trisomy is influenced by maternal age and varies by population (between 1 in
319 and 1 in 1000 live births). DS has high genetic complexity and phenotype diversity.
Trisomic fetuses are at high risk of miscarriages and people with DS have a higher incidence of
many medical conditions. The recent development of medical treatment with social support has
increased life expectancy for the DS population. In developed countries, the average life
expectancy for the DS population is 55 years.
Down syndrome is a condition in which a person is born with excess chromosome 21.
People with Down syndrome can have physical problems, as well as intellectual disabilities.
Every person born with Down syndrome is different. People with the syndrome can also have
other health problems. They can be born with heart disease. They can have dementia. They can
have hearing problems and intestinal, eye, thyroid, and skeletal problems. The chances of having
a baby with Down syndrome increase as a woman gets older. Down syndrome cannot be cured.
Early treatment programs can help improve skills. They may include speech, physical,
occupational, and / or educational therapy. With support and treatment, many people with Down
syndrome live a happy, productive life.
Background:
Down Syndrome complex phenotype results from an imbalance of dose of genes found in
the human chromosome 21 (Hsa 21). The genetic nature of Down Syndrome along with the
small size of Hsa 21 has prompted scientists to focus efforts towards the complete depiction of
this chromosome over the past few years. The length of 21q is 33.5 Mb and 21 p is 5-15 Mb. A
total of 225 genes were estimated when the initial order of 21q was published. Hsa 21 has
40.06% recurring content whereas recurring content of SINE's, LINE's, and LTR is 10.84%,
15.15%, 9.21% respectively.
There are a variety of saved features occurring in all DS populations, including learning
disabilities, craniofacial abnormalities, and early childhood hyponia. Some people with DS are
affected by various phenotypes including atrioventricular septal defects (AVSD) in the heart,
leukemia (both acute megacaryoblastic leukemia (AMKL) and chronic lymphoblastic leukemia
(ALL)), AD, and HD. DS individuals have a variety of physical characteristics such as a small
chin, slanted eye, weak muscle tone, a flat nose bridge, a single fold of the palm, and a
protruding small bone . and large tongue. Other features include big toe, abnormal fingerprint
pattern, and short toe.
The most common cause of having a Down Syndrown baby is having excessive copies of
chromosome 21 resulting in trisomy. Other causes may be Robloconian translocation and is also
chromosomal or chromosome. The Ischromosome is a term used to describe a condition in which
the two are long arm of a chromosome separate from long and short arms are separated while the
eggs sperm development. Trisomy 21 (karyotype 47, XX, + 21 for women and 47, XY, + 21 for
men) is caused by a chromosome failure 21 to isolate during egg or sperm development. With
the Robertsonian move occurs only in 2-4% of cases, the long arm of chromosome 21 is attached
to another chromosome (general chromosome 14). Like speaking of mosaicism the mistake or
wrong direction that occurs after some composting point during cell division. Because of this in
people with mosaic DS there are two cell lines that contribute to the tissues and organs of
individuals with Mosacism (one of the normal number of chromosomes, and so on with an
additional number 21).
Alternatives:
There is no single, standard treatment for Down syndrome. Treatment is based on the
physical and intellectual needs of each individual as well as his or her personal strengths and
limitations. People with Down syndrome can receive proper care while living at home and in the
community. A child with Down syndrome is more likely to receive care from a team of health
professionals, including, but not limited to, physicians, specialists, speech therapists,
occupational therapists, physical therapists, and social workers. All professionals who come in
contact with children with Down syndrome should provide encouragement and encouragement.
People with Down syndrome are at greater risk for a number of health problems and
conditions than those without Down syndrome. Many of these related conditions may require
immediate postpartum care, occasional treatment throughout childhood and adolescence, or long-
term treatment throughout life. For example, a baby with Down syndrome may need surgery a
few days after birth to correct a heart defect; or a person with Down syndrome may have
digestive problems that require a lifelong special diet.
Proposed Solution:
Treatment for Down syndrome varies. It usually starts in early childhood. The goal is for
you and your child with Down syndrome to learn to cope with the condition, as well as treat
what physical and cognitive (mental) challenges have arisen.Your providers can help you build a
care team for your family member with Down syndrome. The care team may include:
Providers of primary care to monitor growth, development, medical concerns and
provide immunizations.
Medical specialists depend on human needs (for example, cardiologist,
endocrinologist, hearing, hearing and eye specialists).
Speech therapists to help them communicate.
Physical therapists to help strengthen their muscles and improve motor skills.
Occupational therapists can help refine their motor skills and make daily tasks
easier.
Behavioral therapists to help manage the emotional challenges that may come with
Down syndrome.
Recommendations:
Parents used phrases like, "blindsided," "destroyed" and "rag pulled from under me."
Some say time seems to have stopped. Many report that the line before and after does not
disappear from their memory. Learning your baby with Down syndrome is not an easy thing to
deal with. We need to encourage all medical professionals to become familiar with the
recommendations below before talking to a new family:
When the diagnosis is presented, try adjusting the couple in a private setting.
Encourage parents to ask appropriate medical professionals. Make sure both parents
have a chance to answer their questions.
Make sure parents do not do or do anything that causes their baby to have Down
syndrome.
Parents may ask how you know the child has Down syndrome. You can check the
information provided by the doctor or exceed some of the physical features of
Down syndrome, such as low muscle tone or a single horizontal palm rest.
Source:
https://www.uptodate.com/contents/down-syndrome-management
https://en.wikipedia.org/wiki/Down_syndrome
https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-
20355977
https://www.webmd.com/children/understanding-down-syndrome-basics##1
https://www.nichd.nih.gov/health/topics/down/conditioninfo/causes
