Down Syndrome

** DOWN SYNDROME **
Down syndrome or trisomy 21 (in British its called Down’s syndrome) is a

genetic condition resulting from the presence of all or part of an extra 21st
chromosome. Down syndrome is characterized by a combination of major
and minor abnormalities of body structure and function. Among features
present in nearly all cases are impairment of learning and physical growth,
and a recognizable facial appearance usually identified at birth. It is named
after John Langdon Down, the British doctor who first described it in 1866.
Individuals with Down syndrome have lower than average cognitive ability,
normally ranging from mild to moderate retardation. Some individuals may
have low intelligence overall, but will generally have some amount of
developmental disability, such as a tendency toward concrete thinking or
naiveté. There are also a small number of individuals with Down syndrome
with severe to profound mental retardation. The incidence of Down
syndrome is estimated at 1 per 800 to 1 per 1000 births.
The common physical features of Down’s syndrome also appear in people

with a standard set of chromosomes. They include a simian crease (a
single crease across one or both palms), almond shaped eyes, shorter
limbs, speech impairment, and protruding tongue. Health concerns for
individuals with Down syndrome include a higher risk for congenital heart
defects, gastro-esophageal reflux disease, recurrent ear infections,
obstructive sleep apnea, and thyroid dysfunctions.
Early childhood intervention, screening for common problems, medical

treatment where indicated, a conductive family environment, and
vocational training can improve the overall development of children with
Down syndrome. While some of the genetic limitations of Down syndrome
cannot be overcome, education and proper care, initiated at any time, can
improve quality of life.
HISTORY
Down syndrome is firstly characterized by English physician John Langdon
Down as a distinct from of mental retardation in 1862, and in a more widely
published report in 1866 entitles “Observation on an ethnic classification of
idiots”. Due to John Langdon’s perception that children with Down
syndrome shared physical facial similarities with those of Blumenbach’s
Mongolian race, Down used terms such as mongolism and Mongolian
idiocy. Idiocy was a medical term used at that time to refer to a severe
degree of intellectual impairment. Down wrote that mongolism represented
“retrogression”, the appearance of Mongoloid traits in the children of
allegedly more advanced Caucasian parents.
By the 20th century, Mongolian idiocy had become the most recognizable
form of mental retardation. Most people with it were institutionalized. Few
of the associated medical problems were treated, and most died in infancy
or early adult life. With the rise of the eugenics movement, 22 of the 48
United States and a number of countries began programs of involuntary
sterilization of individuals with Down syndrome and comparable degree of
disability. The ultimate expression of this type of public policy was the
German euthanasia program Aktion T-4 begun in 1940. Court challenges
and public revulsion led to discontinuation or repeal of such programs
during the decades after World War II.
Until the middle of the 20th century, the cause of Down syndrome remained
unknown, although the presence in all races the association with older
maternal
Age, and the rarity of recurrence had been noticed. Standard medical texts
assumed it was due to combination of inheritable factors which had not
been identified. Other theories focused on injuries sustained during birth.
With the discovery of Karyotype techniques in the 1950s it became

possible to identify abnormalities of chromosomal number or shape. In
1959, Professor Jerome Lejeune discovered that Down syndrome result
from an extra chromosome. The extra chromosome was subsequently
labeled as the 21st, and the condition as trisomy 21.
In 1961, a group of nineteen geneticists wrote to the editor of The Lancet

suggesting that Mongolian idiocy had misleading can-notations, had
become as embarrassing term, and should changed. The lancet supported
Down’s syndrome. The World Health Organization (WHO) officially
dropped references to mongolism in 1965 after a request by the Mongolian
delegate.
In 1975, the United States National Institute of Health convened a

conference to standardize the nomenclature of malformations. They
recommended eliminating the possessive form: “the possessive use of an
eponym should be discontinued, since the author neither had nor owned
the disorder. While both the possessive and non-possessive forms are
used in the general population, Down syndrome is the accepted term
among professionals in the USA, Canada and other countries, While Down
syndrome continues to be used in the United Kingdom and other areas.
Characteristics of Down syndrome

Example with Down syndrome may have some or all of the following
physical characteristics: oblige eye fissures with small skin folds on the
inner corner of the eyes, muscle hypotonia, a flat nasal bridge, a single
palmar fold (simian crease), a protruding tongue (due to small oral cavity,
poor muscle tone, and an enlarged tongue near the tonsils), a short neck,
white spots on the iris known as Brush-field spots, excessive flexibility in
joints, congenital heart defects, excessive space between large and
second toe, and a single flexion furrow of the fifth finger. Most individuals
with Down syndrome have mental retardation n the mild (IQ 50-70) to
moderate range (IQ 35-50), with scores for children with Mosaic Down
syndrome (explained below) some 10-30 points higher. In addition,
individuals with Down syndrome can have serious abnormalities affecting
any body system.
COGNITIVE DEVELOPMENT
Cognitive development in children with Down syndrome is quite variable.
Many can be successful in school, while others struggle. Because of this
variability in expression of Down syndrome, it is important to evaluate
children individually. The cognitive problems that are found among children
with Down syndrome can also be found among typical children. This
means that parents can take advantage of general programs that are
offered through the schools or other means. Children with Down syndrome
have a wide range of abilities. It is not possible at birth to predict their
capabilities. The identification of the best methods of teaching each
particular child ideally begins soon after birth through early intervention
programs.
Language skills show a difference between understanding speech and
expressing speech. It is common for children with Down syndrome to need
speech therapy to help with expressive language. Fine motor skills are
delayed and often lag behind gross motor skills and can interfere with
cognitive development. Occupational therapy can address these issues.
In education, mainstreaming of children with Down syndrome is

controversial. Mainstreaming is when students of differing abilities are
placed in classes with their chronological peers. Children with Down
syndrome do not age emotionally/socially and intellectually at the same
rates as children with out Down syndrome, so eventually the intellectual
and emotional gap between children with as with out Down syndrome
widens. Complex thinking as required in sciences but also in history, the
arts, and the other subjects is often beyond their abilities, or achieved
much later than in most children. Therefore, if they are to benefit from
mainstreaming without feeling inferior most of the time, special
adjustments must be made to the curriculum.
Some European countries such as Germany and Denmark advise two-

teacher system, whereby the second teacher takes over a group of
children with disabilities within the class. A popular alternative is
cooperation between special education schools and mainstream schools.
In cooperation, the core subjects are taught in separate a class, which
neither slows down the typical students nor neglects the students with
disabilities. Social activities, outgoings, and any sports and arts activities
are performed together, as are all breaks and meals.
HEALTH
The medical consequences of the extra material in DS are highly variable
and may affect the function of any organ system or bodily process. The
health aspects of Down syndrome encompass anticipating and preventing
effects of the condition, recognizing complications of the disorder,
managing individual symptoms, and assisting the individual and his/her
family in coping and thriving with any retarded disability or illness
The most common manifestation of Down syndrome are the characteristics

facial features, cognitive impairment, congenital heart disease, hearing
deficits, short stature, thyroid disorders, and Alzheimer’s disease. Other
less common serious illness includes leukemia, immune deficiencies, and
epilepsy. Down syndrome can result from several different genetic
mechanisms. This results in a wide variability in individual symptoms due
to complex gene and environment interactions. Prior to birth, it is not
possible to predict the symptoms that an individual with Down syndrome
will develop. Some problems are present at birth, such as certain heart
malformations. Others become apparent over time, such as epilepsy.
These factors contribute to a significantly shorter lifespan for people with

Down syndrome. One study, carried out in United States, shows an
average lifespan of 49 years.
Genetic research
Down syndrome disorders are based on having too many copes of the
genes located on chromosome 21. in general, this leads to an over-
expression of the genes. Understanding the genes involved may help to
target the medical treatment to individuals with Down syndrome. It is
estimated that chromosome 21 contains 200 to 250 genes. Recent search
has identified a region of the chromosome that contains the main genes
responsible for the pathogenesis of Down syndrome, located proximal to
21q22.3. The search for major genes involved in Down syndrome
characteristics is normally in the region 21q21-21q22.3
Recent use of transgenic mice to study specific genes in the Down
syndrome critical region is had yielded some result. APP (Mendelian
Inheritance in Man (OOIM) 104760, located at 21q21) is an Amyloid beta
A4 precursor protein.
It is suspected to have a major role in cognitive difficulties. Another gene,
ETS2 (Mendelian Inheritance in Man (OMIM 164740, located at 21q22.3)
is Avian
Erythroblastsis Virus E26 Oncogene Homolog 2. Researchers have
“demonstrated that over-expression of ETS2 result in apoptosis.
Transgenic mice over-expressing ETS2 developed a smaller thymus and
lymphocyte abnormalities, similar to features observed in Down syndrome.
SOCIOLOGICAL AND CULTURAL ASPECTS

Advocates for people with Down syndrome points to various factors, such
as special education and parental supports groups which make life easier
for parents.
There are also great strides being made in education, housing, and social
setting to create “Down-friendly” environments. In most developed
countries, since the early 20th century many people with Down syndrome
were housed in institutions or colonies and excluded from society.
However, in the 21st century there is a change among parents, educators
and other professionals generally advocating a policy of inclusion, bringing
people with any form of mental or physical disability into general society as
much as possible. In many countries people with Down syndrome are
educated in the normal school system and there are increasingly higher
quality opportunities to mix special education with regular education
settings.
Despite this change, reduced abilities of people with Down syndrome pose
a challenge to their parents and families. While living with their parents is
preferable to institutionalization for most people wit Down syndrome, they
often encounter patronizing attitudes and discrimination in the wider
community. In the past decade, many couples with Down syndrome have
married and started homes of their own, overcoming many of the
stereotypes associated with this condition.
The first World Down Syndrome Day was held on 21 March 2006. The day
and month were chosen to correspond with 21 and trisomy respectively. It
was proclaimed by Down syndrome International.

Down Syndrome

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DOWN SYNDROME

Down syndrome or trisomy 21 (in British its called Down’s syndrome) is a

The common physical features of Down’s syndrome also appear in people

Early childhood intervention, screening for common problems, medical

With the discovery of Karyotype techniques in the 1950s it became

In 1961, a group of nineteen geneticists wrote to the editor of The Lancet

In 1975, the United States National Institute of Health convened a

Characteristics of Down syndrome

In education, mainstreaming of children with Down syndrome is

Some European countries such as Germany and Denmark advise two-

The most common manifestation of Down syndrome are the characteristics

These factors contribute to a significantly shorter lifespan for people with

SOCIOLOGICAL AND CULTURAL ASPECTS

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