UNIVERSITY OF MEDICINE 2, YANGON

DOWN
SYNDROME
Presentation by Group 1 (RN 1 - 22)
Medical Year 1 (5/2023)
Table of Content

1 What is Down $? 6 Complications

2 History 7 Prognosis
3 Prevalence and
8 Diagnosis
Risk factors
4 Types of Down $ 9 Management
5 Clinical features 10 CONCLUSION
 What is Down Syndrome?
• In every cell in human body, there is a nucleus, where genetic material is stored in
genes.
• Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are
inherited from each parent.
• Down Syndrome occurs when an individual has a full or partial extra copy of
chromosome 21 and called "Trisomy 21".
• This changes how the baby's body and brain develop, which can cause both mental and
physical challenges for the baby.
 When was Down $ discovered?

• First described clinically by Langdon Down in 1866.

• In 1959, the French physician Jérôme Lejeune identified Down $ as a chromosome

condition.

• It was later determined that an extra partial or whole copy of chromosome 21 results

in the characteristics associated with Down $.

• In the year 2000, an international team of scientists successfully identified and

catalogued each of the approximately 329 genes on chromosome 21.

 Prevalence
• 1 in 700-1000 lived baby born in World wide
• About 6000 in each year in the US
• About 30% of the disease since 1979 to 2003
• Most common chromosomal disorders

What are the risk factors for Down syndrome...

Maternal age: commonly age >35 have more chance. Prevalence increase with maternal
age.
Previous Chile with down syndrome: if previously have a child with this, the risk of
another child increase.
Genetic translocation(~3-4%) if parent has Robertsonian translocation (acrocentric), the risk
also increase.
Types of Down syndrome

Trisomy 21 (Non-disjunction)
01 (47,XY,+21 if male)

Translocation Down Syndrome

02 [46,XY,der(14:21)(q10:q:10),+21),
if male]

Mosaic Down Syndrome

03 (46,XY/46,XY,+21 if male)
1. Trisomy 21 (47,XY,+21)

• has complete extra chromosome 21 and has three

copies of chromosome 21
• total chromosome count is 47
• 47,XY,+21 if male
• due to meiotic non-disjunction
• influenced by maternal age and commoner with
increasing with increasing maternal age
• most common form - about 95% of all cases
• is not hereditary
Non-disjunction in Meiosis I Non-disjunction in Meiosis II
2. Robertsonian Translocation (46,XY,der(14:21)(q10:q:10),+21)

• has extra chromosomal material derived from translocation of the long arm of chromosome 21

on chromosome 14 or 22
• Translocated chromosomal fragment provides the same triple gene dosage as trisomy 21

• They are inheritable because the parent is a carrier

• About 4% of all cases

Robertsonian Translocation Down $ INHERITANCE

"So,
Gametes the chance for inheritance is
50%."
Fertilization by a normal gamete

Normal Trisomy 21
3. Mosaic Down $ (46,XY/46,XY,+21)

• a mixture of two types of cells, some containing the usual 46 chromosomes and some
containing 47.
• Those cells with 47 chromosomes contain an extra chromosome 21.
• least common form - 1% of all cases
• fewer characteristics of Down $
 Does Down $ run in family?

• All three types are genetic conditions (relating to the genes), but only
translocation variant can have a hereditary component.
• Hereditary is not a factor in trisomy 21 (non-disjunction and
mosaicism)
• The age of mother is not linked to the risk of translocation and
mosaicism.
 Physical features and characteristics of Down patient

Although individuals have slightly differences,

Down patients show similar characteristics:

• Flat facial profile; small and flat nose and epicanthic folds
• Upslanting palpebral fissure
• Brushfield spots around the iris
• Protruding tongue
• Low-set ears
• Short in stature ,and short and abundant neck
• Muscle hypotonia, hyper-flexibility
• Simian crease
• Wide gap between 1st and 2nd toes, clinodactyly
• Loss of Moro reflex
Simian crease and clinodactyly Epicanthic fold

Protruding tongue
 Intellectual Development and Disability

• have later developmental milestones than other children E.g. walk and talk
• have mild to moderately intellectual disability and difficulty in attention span, verbal memory
• people with Down syndrome usually have an IQ in mild to moderately low range (usually 30-60)
• Slower to speak
• But they can be more self-reliable persons and more independent
 Complications and diseases associated with Down syndrome

• Congenital heart disease - 40%

• Acute leukemia

• Alzheimer's disease in their old age (40s)

• Respiratory problems - Reduced muscle tone Dyspnea

• GI problems - Atresia of oesophagus, small bowel, umbilical hernia

• Hearing and visions impairment

• Lungs and thyroid disorders - Autoimmune

 Prognosis for Down syndrome

• Without the presence of heart defects, about 90% of children with Down syndrome live into the

teens.

• The average life expectancy of a person with Down syndrome is about 60 years.

• People with Down syndrome faced an increased chance of developing Alzheimer's disease in their

old age.

• Most people have a six in 100 risk of developing Alzheimer's disease but people with Down

syndrome have a one-in-four chance of the disease.

How to diagnose
Down syndrome?
 Diagnosis

Prenatal Analysis Postnatal Analysis

Screening Diagnostic test(Confirmation)

Test
Invasive Non-invasive

Screening in prenatal period

• It can detect the risk for Down syndrome and cytogenetic abnormality of the fetus.
• Most common screening tests include maternal blood test (serum screening test) and ultrasound.
• Screening for Down syndrome can be performed as early as 11 to 14 weeks of pregnancy within the first
trimester ultrasound and blood test.
• Screening can also be performed between 15 and 20 weeks by a blood test referred to as the multiple marker
serum screening test..
 Diagnosis tests are usually performed after a positive screening test.
Types of Prenatal Diagnosis
• Chorionic villus sampling (CVS) - examines material from placenta
• Amniocentesis - examines the amniotic fluid
• Percutaneous umbilical blood sampling (PUBS) or cordocentesis - take a
Trisomy 21
sample of baby's blood from umbilical cord
These methods are invasive and carry up to a 1% risk of miscarriage

• Non-invasive prenatal diagnosis -

Detecting chromosomal material from the fetus that is circulating in the maternal blood. Take the
maternal peripheral blood and detected by NGS (Next Generation Sequencing) method - Energetic
molecular diagnostic method
 Indications for prenatal diagnosis

• Advanced maternal age

• A parent of balanced chromosome rearrangement carrier
• Suspected children for many other genetic diseases
• If ultrasound and blood screening test are positive

Most commonly used diagnostic methods for chromosomal analysis are

• Polymerase Chain Reaction analysis (PCR)
• Fluorescence in Situ Hybridization (FISH)
• Next Generation Sequencing (NGS)
 Postnatal Diagnosis
• At the time of birth, if a doctor may suspect Down syndrome in a newborn based on the baby's appearance.
• That can be confirmed by karyotyping method that lines up the chromosomes and will show if there is an extra
chromosome.
• It is most commonly performed on the peripheral blood DNA of the baby.

Indications for postnatal diagnosis

Multiple congenital anomalies

Suspicion of a metabolic disease

Mental retardation and developmental delay

 How to Give support and management to children with Down Syndrome...

• There is no special treatment for Down syndrome (no cure treatment)

But there are some ways to help Down syndrome patients.
• Physical or occupational therapy - e.g. maintaining balance, walking,
running, self-care skills such as dressing, hygiene
• Speech therapy - helps to communicate others
• Participating in special education programs in school
• Treating underlying diseases such as congenital heart defects,
hearing and vision impairment , blood disorders
• Wearing glasses and hearing aid to improve hearing and vision
problems

Speech aid technology

 Our massage

"Children and adults with Down syndrome should not be categorized as a

group.
Each person is an individual, with a unique appearance,
personality and set of abilities."

Thank you
HAVE A NICE DAY!
GROUP 1