Down Syndrome

By:
Nastiti Naresthi R. (2011-297)

Elda Nabiela M. (2011-338)

 definition please;;
Down syndrome is a chromosomal condition characterized by the presence
of an extra copy of genetic material on the 21st chromosome, either in
whole (trisomy 21) or part (such as due to translocations).
Often Down syndrome is associated with some impairment of cognitive
ability and physical growth, and a particular set of facial characteristics.
Individuals with Down syndrome tend to have a lower-than-average
cognitive ability, often ranging from mild to moderate disabilities.
 you know the name, yet you dont know
its (hi)story
1862 : ENGLISH PHYSICIAN JOHN LANGDON DOWN FIRST
CHARACTERIZED DS AS A DISTINCT FORM OF MENTAL
TM 20TH C : THE CAUSE OF DS STILL REMAINED UNKNOWN
1950S : THE DISCOVERY OF KARYOTYPE TECHNIQUES
1959 : JRME LEJEUNE, DISCOVERED THAT DS RESULTED FROM AN
EXTRA CHROMOSOME
1961 :18 GENETICISTS WROTE TO THE EDITOR OF THE LANCET
SUGGESTING THAT MONGOLIAN IDIOCY HAD "MISLEADING CONNOTATIONS
1965 :WHO OFFICIALLY DROPPED REFERENCES TO MONGOLISM
REQUEST BY THE MONGOLIAN DELEGATE
1975 :THE UNITED STATES NATIONAL INSTITUTES OF HEALTH
CONVENED A CONFERENCE REGARDING THE NAMING OF THE SAID
DISABILITY.
 s i g ns + symptoms ; ;

people with DS = babies?

the conspicuous

the hidden
 neoteny
The signs and symptoms DS are

characterized by the neotenization

(decelerated maturation) of the brain and

body to the fetal state. Dr. Weihs considers

Down syndrome to be a condition of

"neoteny" that makes people "like a baby.

 physical characteristics
microgenia
macroglossia
Brushfield spots
muscle hypotonia
a single palmar fold
excessive space between the big and second toes
smaller in growth parameters (height, weight, head circumference)
an unusually flat and broad face, flat nasal bridge, shorter neck + limbs + fingers

upslanting palpebral fissures (the separation between the upper and lower eyelids)

oblique eye fissures with epicanthic skin folds (formerly known as a mongoloid fold)
 mental characteristics
Most individuals with Down syndrome have intellectual disability in the

mild (IQ 5070) to moderate (IQ 3550) range.

Dr. Weihs notes the mental qualities of people with Down syndrome to be

"unsexual," "playful," "affectionate," "mischievous" and "imitative".

Language skills are lower, usually have a speech delay

Fine and motor skills are also delayed

is there any harm done?

congenital
health
disease

thyroid
malignancies
disorders

gastrointestina immune
l deficiencies
r e t r e a t m e n t (s) ; ;

examination at birth

plastic surgery

cognitive
development

alternative
development
thank you so much for thy attention.

may
happiness be
upon you. lol