John Langdon Down was a British physician who first described Down syndrome in 1866 and recognized it as a distinct medical condition; he proposed that it results from reversion to ancestral traits seen in other races. Down syndrome, also known as trisomy 21, occurs when there is an extra chromosome 21 present and results in cognitive impairment and physical characteristics including a flat facial profile, upward slanting eyes, and a short neck. The risk of Down syndrome increases with maternal age and proper prenatal screening and testing can help diagnose the condition before birth.

1. Y2 1-
IS OM WN
TR DO E
DROM
SYN
z
u b zz
Dr. R

2. • He trained at the London
Hospital.
•
He was the first to
recognize what he called
“Mongolian idiocy” as a
syndrome, a “throwback”
to a “lower” race.
• The children appeared
similar, like brothers and
sisters.
• The disorder became
known as “Mongolism.”
John Langdon • It is now called Down
Down syndrome.
• He opposed slavery, and
1828-1896 argued this “ throwback”
• disproved the “Negroid
race” was inferior.
• He advocated equal
education for women.

3. en ce
Inc id -1000
in 800 irths.
one ive b
xim ately l
A ppro

4. Table 1: Incidence of Down Syndrome
Maternal Age- Specific Risk for Trisomy -21 at livebirth
Age (years) Incidence
20 1 in 1500
30 1 in 900
35 1 in 350
40 1 in 100
41 1 in 70
42 1 in 55
43 1 in 40
44 1 in 30
45 1 in 25

5.  Trisom
%, T my 21 (4
h
triso e freque 7, +21), -
t ic s
my i
incre ncre ncy of 95
G en e asing ases w
 Robe mate
r n al
ith
trans rtson age.
ia n
chro location
moso invol
3 %, v
mate not r me 21- A ing
e
r nal lated to pprox.
 Trisom age.
2% y 21
case mosai
s cism
–

6. Table 2. Karyotyping in Down syndrome
Non-disjunction trisomy
21
Robertsonian 3%
Translocation
Mosaicism
Recurrence Risk by 2%
Karyotype
Nondisjunction Trisomy
47(XX or XY) + 21 1%
Translocation on
both parents normal <1%
other carrier 10%
father carrier 2.5%
either parent t(21q;21q) 100%
Mosaics <1%

9. Trisomy 21 in Down Syndrome
24,X 23,Y
+21
Sperm, normal
Egg,
extra 21
47,XY,+21
Zygote

12. Clinical Features
 Head and neck  Extremities
 Brachycephaly
 Short broad hands
 Up-slanting palpebral
fissures  Short fifth finger
 Epicanthal folds  Incurved fifth finger
 Brushfield spots  Transverse palmer crease
 Flat nasal bridge  Space between first and
 Folded or dysplastic ears second toe
 Open mouth  Hyper flexibility of joints
 Protruding tongue
 Short neck Life expectancy : 55 years
 Excessive skin at the nape of
neck (National Down Syndrome
Society)

15. Neon
 Flat facial profile
Neon
 Poor Moro reflex
 Excessive skin at
at al f
at al f
the nape of neck
 Slanted palpebral  Dysplasia of pelvis
fissures
eatu
eatur
 Hypotonia  Anomalous ears
 Hyper flexibility of  Dysplasia of of fifth
res
joints midphalanx
es
finger
 Transverse palmer
crease

16. Medical
Problem

17. Newborn
• cardiac defects (50% ): AVSD [most
common], VSD, ASD, TOF or PDA
• gastrointestinal (12%): duodenal atresia
[commonest], tracheo-oesophageal
fistula, anorectal malformation, pyloric
stenosis and Hirshsprung disease.
• vision: congenital cataracts (3%),
glaucoma.
• hypotonia & joint laxity
• feeding problems. Usually
Resolve in few weeks.
• congenital hypothyroidism (1%)
• congenital dislocation of the hips

18. Infancy and Childhood
• delayed developmental milestones
• mild to moderate intellectual
impairment (IQ 25 to 50)
• seizure disorder (6%)
• recurrent respiratory infections
• hearing loss (>60%) due to secretory otitis media,
sensorineural deafness,or both
• visual Impairment – squint (50%), cataract (3%),
nystagmus (35%), glaucoma,
refractive errors (70%)
• sleep related upper airway obstruction. Often
multiple factorial.
• leukaemia (relative risk:15 to 20 times). Incidence
1%

19. • atlantoaxial instability. Symptoms of spinal cord
compression include neck pain,
change in gait, unusual posturing of the head and
neck (torticollis), loss of up
per body strength, abnormal neurological reflexes,
and change in bowel/bladder
functioning.
• hypothyroidism (10%). Prevalence increases
with age
• short stature – congenital heart disease, sleep
related upper airway obstruction,
coeliac disease, nutritional inadequacy due to
feeding problems and thyroid
hormone deficiency may contribute to this
• over/underweight

20. • Epicanthal folds are
prominent
• The iris has the light
smudgy opacities of
Brishfield spots
Which eyes belong to a child with Down syndrome?

21. Adolescence and Adulthood
• puberty - in Girls menarche is only
slightly delayed. Fertility presumed
- in Boys are usually infertile due to low
testosterone levels
• increased risk of dementia /Alzheimer
disease in adult life
• shorter life expectancy

22.  BW, le
less ngth an
in DS d HC
 Redu are
th
ced
 Preva growth ra
G row grea lence of
ter in obes
te
 Weig DS ity is
expe ht is less
infan cted for than
ts wi leng
incre th D S th in
ally s ases disp , and the
obes o that th roportio n
e by ey ar n
age e
3-4 y
ears

25. Diagnosis
 Prenatal screening
-"triple screen" can be done between the
15th and the 20th weeks of pregnancy.
1. Alpha-fetoprotein
2. Unconjugated Estriol
3. Human Chorionic Gonadotropin (hCG)
-PAPP-A, which stands for pregnancy-associated plasma protein A
 Confirmed by Karyotype. 47,XX,21 21q21q
translocation,

26. Tests for positive results
If the prenatal screening is positive or are
at a high risk for Down syndrome, do
further testing.
Amniocentesis Chorionic villus Percutaneous
• Done in midtrismester sampling (CVS) umbilical blood
between 15 and 18 weeks of • Sample is taken by needle sampling (PUBS)
gestation. About 20 ml of biopsy under ultrasound • To exam for chromosomal
amniotic fluid withdrawn guidance. Advantage of this defects, blood is taken
for diagnostic studies. method is it can be taken from the vein in the
Usually taken in pregnant earlier than Amniocentesis, umbilical cord.
woman above 35 years old usually between 10 and 12 •This test has a greater risk
or older at the time of weeks of gestation. for miscarriage than both
delivery. • 1% risk of spontaneous Amniocentesis and CVS.
• risk of miscarriage is 1 in • Test usually is only done if
miscarriage
300 completely necessary.

27. Management
1. Growth – Measurements should be plotted on the
appropriate growth chart for children with DS.
 This will help in preventionandobesity and early
diagnosis of celiac disease
of
hypothyroidism.
2. Cardiac disease – All newborns should be
evaluated by cardiac ECHO by 2 weeks (if clinical
examination or ECG were abnormal) or 6 weeks.
3. Hearing – Screening to be done in the newborn
period, every 6 months until 3 years of age and
then annually.

28. Management (cont.)
4. Eye disorders - An eye exam should be
performed in the newborn period or at least
before 6 months of age to detect strabismus,
nystagmus, and cataracts.
5. Thyroid Function – Should be done in newborn
period and should be repeated at six and 12
months , and then annually.
6. Celiac Disease – Screening should begin at 2
yrs. Repeat screening if signs/Sx develop.

29. Management ( cont)
7. Hematology – CBC with differential at birth to
evaluate for polycythemia as well as WBC.
8. Atlanto-axial instability – X ray (14% in
patient) for evidence of AAI or sub-luxation at
3 to 5 years of age.; symptomatic in 1-2%.
 small risk for major neurological damage but
cervical spine X rays in children have no
predictive validity for subsequent acute
dislocation/ subluxation at the atlantoaxial
joint
 children with Down’s syndrome should not be
barred from taking part in sporting activities

30. Appropriate care of the neck
while under general anasthesia
or after road traffic accident is
advisable

31. TABLE 3
Incidence of Some Associated Medical Complications in Persons
with Down Syndrome
Disorder Incidence (%)
Mental retardation > 95
Growth retardation > 95
Early Alzheimer's disease Affects 75% by age 60
Congenital heart defects 40
(atrioventricular canal defect,
ventricular septal defect, atrial
septal defect, patent ductus
arteriosus, tetralogy of Fallot)
Hearing loss (related to otitis media 40 to 75
with effusion or sensorineural)
Ophthalmic disorders (congenital 60
cataracts, glaucoma, strabismus)
Epilepsy 5 to 10
Gastrointestinal malformations 5
(duodenal atresia, Hirschsprung
disease)
Hypothyroidism 5
Leukemia 1
Atlantoaxial subluxation with spinal <1
cord compression
Increased susceptibility to infection Unknown
(pneumonia, otitis media, sinusitis,
pharyngitis, periodontal disease)
Infertility > 99% in men; anovulation in 30% of
women

32. Mortality
Median age of death has increased from 25 yrs in
1983 to 49 yrs in 1997, an average of 1.7 yrs
increase per year.
Most likely cause of death is CHD, Dementia,
Hypothyroidism and Leukemia.
Improved survival is because of increased
placements of infants in homes and
changes in treatment for common causes of death.
Survival is better for males and blacks.

33.  May b
diag egin w
nosis hen
 Discu is ma a pre
ng
de e. na tal
varia ss the w
and bility in ide ran
n se li  prog m g
nosis anifest e of
M ed . ation
treat i ca l a
inter men nd edu
vent ts and cational
Co u
discu
ssedions shou
 Initia . ld be
inter l referra
publ vention ls for ea
grou ications , informa rly
grou ps, and , parent tive
ps. advo
cacy

34. Famous people with Down syndrome
Chris Burke Jane Cameron Sujeet Desai Bernadette Resha

35. 1. P
ediat
r ic P
rotoc
Hosp ol fo
ital 2 nd r Malay
es
2. P Editi si a n
a e d ia on
t r ic a
re nc
Editi taG
on lance n
2d
3. N
elson
Fifth Essentia
Re f e
Editi l of P
on. ediat
4. h rics
ttp://
www
/topi
cs/do .nichd.ni
wn_s h.gov
yndr /
ome. health
cfm

36. They need more loves and cares
Thank you