CI I T

Sameen Noushad

2014
GENETICSASSIGNMENT
DOWNSYNDROME
DOWN SYNDROME
April 20,
2014
| 1
Table of Contents
INTRODUCTION.............................................................................................................................................2
GENETICS OF DOWNSYNDROME:................................................................................................................3
SYMPTOMS...................................................................................................................................................4
Physical .....................................................................................................................................................4
Neurological..............................................................................................................................................5
Senses.......................................................................................................................................................5
Heart .........................................................................................................................................................6
Cancer.......................................................................................................................................................6
Fertility......................................................................................................................................................6
Prognosis for People with Down syndrome..................................................................................................7
Life of Adults:............................................................................................................................................7
Life of Children:.........................................................................................................................................7
Management for People with Down syndrome...........................................................................................8
Health Screening:......................................................................................................................................8
Cognitive development:............................................................................................................................8
Drugs and Supplements:...........................................................................................................................9
References: .................................................................................................................................................10
INTRODUCTION
Down syndrome is a chromosomal disorder caused by a
whichis an extra 21st chromosome. The condition leads to impairments in both
capabilityand physical development
screenings and tests, Down syndrome can be detected before and after
known to affect the likelihoodof having a baby with Down syndrome is maternal age. That is,
less than one in 1,000 pregnancies for mothers less than 30 years of age results in a baby with
Down syndrome. For mommieswho are 44 years of age, about 1 in 35 pregnancies results in a
baby with Down syndrome. Because younger
children with the disorder are born to younger women.
(http://www.medicalnewstoday.com/articles/145554.php)
(Agathokleouset.al ,2013)
(Verweij, EJ et.al, 2012)
Testing of the mother's blood
for fetal DNA is studied and is
helpful in the first
trimester.Accuracy goes as high
as 98.6% in the first trimester of
pregnancy. Invasive techniques
for confirmation
are(amniocentesis, CVS) needed
to confirm the screening result.
DOWN SYNDROME
DOWN SYNDROME
Down syndrome is a chromosomal disorder caused by a fault in cell division; the outcome of
an extra 21st chromosome. The condition leads to impairments in both
development rangingfrom mild to moderate levels. After
screenings and tests, Down syndrome can be detected before and after birth. The only factor
of having a baby with Down syndrome is maternal age. That is,
regnancies for mothers less than 30 years of age results in a baby with
who are 44 years of age, about 1 in 35 pregnancies results in a
baby with Down syndrome. Because younger ladiesgenerally have more children, 75
are born to younger women.
(http://www.medicalnewstoday.com/articles/145554.php)
Testing of the mother's blood
for fetal DNA is studied and is
helpful in the first
trimester.Accuracy goes as high
as 98.6% in the first trimester of
pregnancy. Invasive techniques
for confirmation
are(amniocentesis, CVS) needed
to confirm the screening result.
Ultrasound imaging can be used
aswell. Evidence that indicate
the syndrome when seen at 14
to 24 weeks of pregnancy
include: a small or no nasal
bone, large ventricles, nuchal
fold thickness, and an abnormal
right subclavian artery and so
on.
DOWN SYNDROME
DOWN SYNDROME
April 20,
2014
| 2
e outcome of
an extra 21st chromosome. The condition leads to impairments in both mental
levels. After series of
. The only factor
of having a baby with Down syndrome is maternal age. That is,
regnancies for mothers less than 30 years of age results in a baby with
who are 44 years of age, about 1 in 35 pregnancies results in a
generally have more children, 75 - 80%of
Ultrasound imaging can be used
aswell. Evidence that indicate
the syndrome when seen at 14
to 24 weeks of pregnancy
include: a small or no nasal
bone, large ventricles, nuchal
fold thickness, and an abnormal
right subclavian artery and so
DOWN SYNDROME
DOWN SYNDROME
April 20,
2014
| GENETICS OF DOWN SYNDROME: 3
GENETICS OF DOWNSYNDROME:
Down syndrome results
when one of three types
of abnormal cell division
involving chromosome 21
occurs. All three cell
division abnormalities
result in extra genetic
material from
chromosome 21, which is
responsible for the
characteristic features
and developmental
problems of Down
syndrome. The three
genetic variations that
can cause Down syndrome include: (http://www.mayoclinic.org/diseases-conditions/down-
syndrome/basics/causes/con-20020948)
T
r
i
s
o
m
y

2
1
.More than 90 percent of
the time, Down syndrome
is caused by trisomy 21. A
child with trisomy 21 has
three copies of
chromosome 21
instead of the usual two
copies in all of his or
her cells. This form of
Down syndrome is caused
by abnormal cell division
during the development
of the sperm cell or the
egg cell.
M
o
s
a
i
c

D
o
w
n

S
y
n
d
r
o
m
e
In this rare form of Down
syndrome, children have
some cells with an extra
copy of chromosome 21.
This mosaic of normal and
abnormal cells is caused
by abnormal cell division
after fertilization.
T
r
a
n
s
l
o
c
a
t
i
o
n

D
o
w
n

S
y
n
d
r
o
m
e
Down syndrome can also
occur when part of
chromosome 21 becomes
attached (translocated)
onto another
chromosome, before or at
conception. Children with
translocation Down
syndrome have the usual
two copies of
chromosome 21, but they
also have additional
material from
chromosome 21 attached
to the translocated
chromosome. This form of
Down syndrome is
uncommon.
SYMPTOMS
Physical
Those with Down syndrome nearly always
(http://www.webmd.com/children/understanding
Small chin Slanted Eyes
Single palmar
crease
Protruding
tongue
Space in toe
and fingers
Short fingers
DOWN SYNDROME
| SYMPTOMS
Those with Down syndrome nearly always have physical and intellectual disabilities:
(http://www.webmd.com/children/understanding-down-syndrome-symptoms)
Slanted Eyes
Poor muscle
tone
Protruding
tongue
Flat face
Short fingers
DOWN SYNDROME
April 20,
2014
SYMPTOMS 4
have physical and intellectual disabilities:
Flat nasal
bridge
Short neck
Neurological
Senses
Downs syndrome is associated closely to hearing and vision disabilities. Around 38
having the syndrome suffer from it.
Hearing problems are found in 50
2012.)
STRABISMUS: Around 20 and 50% have it, in which the two eyes do not move
together. (Weijerman,
Cataracts : (cloudiness of the lens of the eye) can be there from birth and
accounts to 15% of individuals. ("Down Syndrome and Other Abnormalities
of Chromosome Number". Nelson textbook of pediatrics. (19th ed. ed.).
Philadelphia: Saunders. 2011.)
Keratoconus: (a thin, cone
pressure) are also more common. (Weijerman
Brushfield spots (small white or grayish/ brown spots on the outer part of the
iris) are prevalant in 38 to 85% of individuals. (Weijerman,
DOWN SYNDROME
| SYMPTOMS
It is common that individuals with Down
syndrome have mild (IQ: 5070) or moderate
(IQ: 3550) or severe (IQ: 2035).
et.al, 2010)
Children and adults with Down syndrome are at
increased risk of epileptic seizures
spasmsand Alzheimers. (M. William Schwartz
et.al, 2012)
Downs syndrome is associated closely to hearing and vision disabilities. Around 38
having the syndrome suffer from it. (Weijerman, et.al, 2010)
Hearing problems are found in 5090%of children with Down syndrome. (Rodman
STRABISMUS: Around 20 and 50% have it, in which the two eyes do not move
together. (Weijerman,et.al, 2010)
Cataracts : (cloudiness of the lens of the eye) can be there from birth and
accounts to 15% of individuals. ("Down Syndrome and Other Abnormalities
of Chromosome Number". Nelson textbook of pediatrics. (19th ed. ed.).
Philadelphia: Saunders. 2011.)
Keratoconus: (a thin, cone-shaped corneas) and glaucoma (increased eye
pressure) are also more common. (Weijermanet.al, 2010.)
Brushfield spots (small white or grayish/ brown spots on the outer part of the
iris) are prevalant in 38 to 85% of individuals. (Weijerman,
DOWN SYNDROME
April 20,
2014
SYMPTOMS 5
individuals with Down
70) or moderate
35). (Weijerman
Children and adults with Down syndrome are at
epileptic seizures, infantile
M. William Schwartz
Downs syndrome is associated closely to hearing and vision disabilities. Around 38-80%people
(Rodmanet.al,
STRABISMUS: Around 20 and 50% have it, in which the two eyes do not move
Cataracts : (cloudiness of the lens of the eye) can be there from birth and
accounts to 15% of individuals. ("Down Syndrome and Other Abnormalities
of Chromosome Number". Nelson textbook of pediatrics. (19th ed. ed.).
shaped corneas) and glaucoma (increased eye
Brushfield spots (small white or grayish/ brown spots on the outer part of the
iris) are prevalant in 38 to 85% of individuals. (Weijerman, et.al, 2010)
Heart
1. 40%of individuals with the syndrome have
(2007). The consequences of chromosome imbalance : principles, mechanisms, and
models. Cambridge: Cambridge University Press. pp. 255
2. Whereas 80%are known to suffer from
Fertilit y
Females has a low fertility rate as compared to unaffected ones, whereas males do not have a
tendency to have offspring. In 2006 there have been
having babiesand 26 circumstances
technologies, approximately half of the pregnancies of someone with Down syndrome will also
have the syndrome. (Pradhanet.al , 2010)
Two beautiful sisters, suffering from Down
Syndrome and leukemia
DOWN SYNDROME
| SYMPTOMS
40%of individuals with the syndrome have congenital heart disease. (Epstein, Charles J.
(2007). The consequences of chromosome imbalance : principles, mechanisms, and
models. Cambridge: Cambridge University Press. pp. 255256.)
are known to suffer from atrioventricular septal defect or
septal defect. (Maltet.al, 2013)
Cancer
The risk of cancer remains but the cancers
that are more commonly associated with
Down syndrome are leukemia and
testicular cancer. Solid cancers are less
common. (Maltet.al, 2013)
Chromosome 21 has more expression of
tumor suppresser genes and this actually
leads to low risk of solid cancers.
Thomas-Tikhonenko, ed. (2010). Cancer
genome and tumor microenvironment
(Online-Ausg. ed.). New York: Springer.
p. 203.)
has a low fertility rate as compared to unaffected ones, whereas males do not have a
2006 there have been 3records of males with Down syndrome
circumstancesof women having children. Without assisted reproductive
, approximately half of the pregnancies of someone with Down syndrome will also
et.al , 2010)
Two beautiful sisters, suffering from Down
Syndrome and leukemia
DOWN SYNDROME
April 20,
2014
SYMPTOMS 6
(Epstein, Charles J.
(2007). The consequences of chromosome imbalance : principles, mechanisms, and
or ventricular
et.al, 2013)
The risk of cancer remains but the cancers
that are more commonly associated with
emia and
testicular cancer. Solid cancers are less
13)
Chromosome 21 has more expression of
tumor suppresser genes and this actually
leads to low risk of solid cancers. (Andrei
Tikhonenko, ed. (2010). Cancer
genome and tumor microenvironment
Ausg. ed.). New York: Springer.
has a low fertility rate as compared to unaffected ones, whereas males do not have a
of males with Down syndrome
assisted reproductive
, approximately half of the pregnancies of someone with Down syndrome will also
harshness of medical problems and
early times the Down syndrome patients were expected to live less than 10 years. Now,
80% of adult Down syndrome patients
(http://www.who.int/genomics/public/geneticdiseases/en/index1.html
Life of Children:
Quality of life also has improved for many
children with Down syndrome, but living
with the condition is not without difficulties.
Generally, children with Down syndrome
are able to attend school. Many children
with Down syndrome learn to read and
write and enjoy the same activities as other
kids their age, such as sports, art, and
music programs.
DOWN SYNDROME
| /Prognosis for People with Down syndrome
Prognosis for
People with Down
syndrome
The prognosis of Down
syndrome is
depending upon the
possible complications
like heart defects,
several
development of
leukemia.
Although the prognosis
for children who have
Down syndrome
depends on the
of medical problems and obstacles that develop, it has boostedover the years.
the Down syndrome patients were expected to live less than 10 years. Now,
80% of adult Down syndrome patients celebrate their 50
th
birthday and even longer !
http://www.who.int/genomics/public/geneticdiseases/en/index1.html
Quality of life also has improved for many
children with Down syndrome, but living
with the condition is not without difficulties.
Generally, children with Down syndrome
school. Many children
with Down syndrome learn to read and
write and enjoy the same activities as other
kids their age, such as sports, art, and
Life of Adults:
As adults, people with Down syndrome may
live with their families or in community group
homes, where they often are able to take care
of their own needs. They may work in offices,
nursing homes, hotels, restaurants, and other
places of employment. People who have
Down syndrome may marry and have children;
however, pregnant women with the condition
are at high risk for miscarriage.
(http://down-syndrome.emedtv.com/down
syndrome/down-syndrome-prognosis.html
DOWN SYNDROME
April 20,
2014
/Prognosis for People with Down syndrome 7
Prognosis for
People with Down
syndrome
The prognosis of Down
syndrome is changing
depending upon the
possible complications
like heart defects,
several infections and
development of
leukemia.
Although the prognosis
for children who have
Down syndrome
depends on the
over the years. As in
the Down syndrome patients were expected to live less than 10 years. Now, about
birthday and even longer !
http://www.who.int/genomics/public/geneticdiseases/en/index1.html)
As adults, people with Down syndrome may
live with their families or in community group
homes, where they often are able to take care
of their own needs. They may work in offices,
nursing homes, hotels, restaurants, and other
who have
Down syndrome may marry and have children;
however, pregnant women with the condition
syndrome.emedtv.com/down-
prognosis.html)
DOWN SYNDROME
April 20,
2014
| Management for People with Down syndrome 8
Management for People with Down syndrome
Efforts such as early childhood intervention, screening for common problems, medical treatment
where indicated, a decent family atmosphere, and work related exercise can improve the
development of children with Down syndrome. Schooling and proper attentioncan
improve quality of life. Typical childhood vaccinations are recommended.
(Hickey & Summar, 2012)
Health Screening:
A number of health organizations have issued commendations for screeningthose with Down
syndrome for specific ailments. (Bull, 2011)
At birth all children must get an electrocardiogramandultrasound of the heart. Surgical repair
of heart problems may be required as early as three months of age. Heart valve problems may
occur in young adults, and further ultrasound assessment may be requiredin young people and
in early adulthood. (Hickey & Summar, 2012)
Cognitive development:
Delay in the development of cognitive capacities is a prime result of Down syndrome. In spite of
such cognitive delay, however, young children with Down syndrome can be empathic, friendly
and
engaging. (Wishart & Pitcairn, 2000).
Hearing aids can be useful for language learning in those with hearing loss
Summar, 2012). People with Down syndrome can typically have good hand eye coordination;
learning sign language may be promising
communication methods, such as pointing, body language,
used to help with communication even though there is
2007)
trials of these treatments were poorly controlled and revealed adverse effects from these
treatments. Since then, newer psychoactive drugs that are much more
developed. No controlled clinical studies of these medications for Dow
demonstrated their safety and efficacy, however. Many studies of drugs to treat symptoms of
dementia in Down syndrome have included only a few participants. The results of these studies
have not shown flawlessbenefits of these drugs, eithe
dementia in Down syndrome have shown that these
effective.
(https://www.nichd.nih.gov/health/topics/down/conditioninfo/Pages/treatments.aspx#f8
DOWN SYNDROME
| Management for People with Down syndrome
for language learning in those with hearing loss (Hickey
Down syndrome can typically have good hand eye coordination;
may be promising(Reilly, 2012). Other alternative
methods, such as pointing, body language, items, or photographs
communication even though there is slight actual confirmation
trials of these treatments were poorly controlled and revealed adverse effects from these
treatments. Since then, newer psychoactive drugs that are much more precisehave been
developed. No controlled clinical studies of these medications for Down syndrome have
demonstrated their safety and efficacy, however. Many studies of drugs to treat symptoms of
dementia in Down syndrome have included only a few participants. The results of these studies
benefits of these drugs, either. Similarly, studies of antioxidants for
dementia in Down syndrome have shown that these supplements are harmless
d.nih.gov/health/topics/down/conditioninfo/Pages/treatments.aspx#f8
DOWN SYNDROME
April 20,
2014
Management for People with Down syndrome 9
Hickey &
Down syndrome can typically have good hand eye coordination;
photographs are often
actual confirmation(Roberts et.al,
Drugs and
Suppleme
nts:
Some people
with Down
syndrome
take amino
acid
supplements
or drugs that
affect their
brain
activity.
However,
many of the
latest clinical
trials of these treatments were poorly controlled and revealed adverse effects from these
have been
n syndrome have
demonstrated their safety and efficacy, however. Many studies of drugs to treat symptoms of
dementia in Down syndrome have included only a few participants. The results of these studies
r. Similarly, studies of antioxidants for
harmless, but not
d.nih.gov/health/topics/down/conditioninfo/Pages/treatments.aspx#f8)
DOWN SYNDROME
April 20,
2014
| References: 10
References:
1. Weijerman, ME; de Winter, JP (Dec 2010). "Clinical practice. The care of children with
Down syndrome.". European journal of pediatrics169 (12): 144552.
2. Weijerman, ME; de Winter, JP (Dec 2010). "Clinical practice. The care of children with
Down syndrome.". European journal of pediatrics 169 (12): 144552.
3. Epstein, Charles J. (2007). The consequences of chromosome imbalance : principles,
mechanisms, and models. Cambridge: Cambridge University Press. pp. 255256.
4. Malt, EA; Dahl, RC; Haugsand, TM; Ulvestad, IH; Emilsen, NM; Hansen, B; Cardenas, YE;
Skld, RO; Thorsen, AT; Davidsen, EM (Feb 5, 2013). "Health and disease in adults with
Down syndrome. Tidsskrift for den Norske laegeforening: tidsskrift for praktisk medicin,
ny raekke133(3): 2904"
5. Malt, EA; Dahl, RC; Haugsand, TM; Ulvestad, IH; Emilsen, NM; Hansen, B; Cardenas, YE;
Skld, RO; Thorsen, AT; Davidsen, EM (Feb 5, 2013). "Health and disease in adults with
Down syndrome. Tidsskrift for den Norske laegeforening: tidsskrift for praktisk medicin,
ny raekke133(3): 2904"
6. (Andrei Thomas-Tikhonenko, ed. (2010). Cancer genome and tumor microenvironment
(Online-Ausg. ed.). New York: Springer.
7. Pradhan, M; Dalal, A; Khan, F; Agrawal, S (2006). "Fertility in men with Down syndrome:
a case report". Fertil Steril 86 (6): 1765.e13.
8. Weijerman, ME; de Winter, JP (Dec 2010). "Clinical practice. The care of children with
Down syndrome.". European journal of pediatrics 169 (12): 144552.
9. "Down Syndrome and Other Abnormalities of Chromosome Number". Nelson textbook
of pediatrics. (19th ed. ed.). Philadelphia: Saunders. 2011.
10. Weijerman, ME; de Winter, JP (Dec 2010). "Clinical practice. The care of children with
Down syndrome.". European journal of pediatrics 169 (12): 144552.
11. Weijerman, ME; de Winter, JP (Dec 2010). "Clinical practice. The care of children with
Down syndrome.". European journal of pediatrics 169 (12): 144552.
12. Agathokleous, M; Chaveeva, P; Poon, LC; Kosinski, P; Nicolaides, KH (Mar 2013). "Meta-
analysis of second-trimester markers for trisomy 21.". Ultrasound in obstetrics &
gynecology : the official. 41(3): 24761. )
13. Verweij, EJ; van den Oever, JM; de Boer, MA; Boon, EM; Oepkes, D (2012). "Diagnostic
accuracy of noninvasive detection of fetal trisomy 21 in maternal blood: a systematic
review.". Fetal diagnosis and therapy31(2): 816.)
14. Hickey,E, Summar KL, 2012 Medical update for children with Down syndrome for the
pediatrician and family practitoner Advances in Pediatrics59 (1) : 137-57.
DOWN SYNDROME
April 20,
2014
| References: 11
15. Bull, MJ; Committee on, Genetics (Aug 2011). "Health supervision for children with
Down syndrome.". Pediatrics128(2): 393406.
16. Wishart, J. G. & Pitcairn, T. K. (2000). Recognition of identity and expression in faces by
children with Down syndrome. American Journal on Mental Retardation, 105(6), 466-
479.
17. Reilly, C, 2012 Behavioural phenotypes and special educational needs: is aetiology
important in the classroom Journal of Intellectual disability research56(10) pp 46-929
18. Roberts, JE; Price, J; Malkin, C (2007). "Language and communication development in
Down syndrome". Ment Retard Dev Disabil Res Rev13(1): 2635.
19. http://www.webmd.com/children/understanding-down-syndrome-symptoms
Retrieved on April 14, 2014 at 5.45pm
20. http://www.mayoclinic.org/diseases-conditions/down-syndrome/basics/causes/con-
20020948
Retrieved on April 14, 2014 at 6.30pm
21. http://www.who.int/genomics/public/geneticdiseases/en/index1.html
Retrieved on April 15, 2014 at 5:30 pm
22. http://down-syndrome.emedtv.com/down-syndrome/down-syndrome-prognosis.html
Retrieved on April 15, 2014 at 5:36 pm
23. https://www.nichd.nih.gov/health/topics/down/conditioninfo/Pages/treatments.aspx#f
8
Retrieved on April 16, 2014 at 2.25 pm
24. http://www.medicalnewstoday.com/articles/145554.php
Retrieved on April 14, 2014 at 5:45 pm