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TABLE OF CONTENTS

Down Syndrome
Causes
Effects
Neurological
Physical
Sensory
Types
Diagnosis
Other Complications
Life Fulfilment
Mitigations and Amelioration - Treatment
Limitations

Turner Syndrome
Causes
Effects
Neurological
Physical
Sensory
Types
Diagnosis
Other Complications
Life Fulfilment
Mitigations and Amelioration - Treatment
Limitations

Klinefelter Syndrome
Causes
Effects
Neurological
Physical
Types
Diagnosis
Other Complications
Life Fulfilment
Mitigations and Amelioration - Treatment
Limitations

Edwards Syndrome
Causes
Effects
Neurological
Physical
Types
Diagnosis
Other Complications
Life Fulfilment
Mitigations and Amelioration - Treatment
Limitations
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1. Down Syndrome (Trisomy-21)

A. History:
- Earliest known depiction of someone with Down Syndrome is from a painting in
1515. (Figure 2.1)

‘Mongolism’.
- Genetic cause was discovered in 1959 by Professor Jerome Lejeune.

B. Causes:
- People with Down syndrome have an extra copy of chromosome-21, this results
in the overexpression of a portion of the 400[1] genes located on it
- We still don’t know what exactly causes Down syndrome but there are some
factors that increase its risk:
➔ People who have a child with Down syndrome already or have a similar
defect themselves have a higher chance of offspring with Down syndrome.[2]
➔ Women older than thirty-five have an increased risk of having children with
Down syndrome. (However most cases of Down syndrome still arise in
children of younger women due to more births.)[2]
> According to a study done on female mice, this may be why: ‘There are
proteins present that help keep chromosomes together at their centres.
Lower levels of these proteins cause the chromosome pairs or sister strands
to be more loosely connected and further apart. Researchers found that
older female mice had lower amounts of these proteins in their eggs,
suggesting that as the eggs age, the levels of these proteins fall’. This may
cause sister chromatids to be separated more easily during meiosis I.[3]

C. Effects:
a. Neurological:

- Delay in developmental milestones:

➔ Crawling at eight months, not five.
➔ Walking at twenty-one months, not fourteen.
- Intellectual disabilities individuals can have may be:
➔ Mild (IQ: 50 - 69)
➔ Moderate (IQ: 35 - 50)
➔ Severe (IQ: 20 - 35)
- Individuals are usually better at understanding than speaking or expressing.
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- Individuals, on average, have a brain with a smaller volume and certain

structures in it do not function properly, like the hippocampus (vital for learning
and memory) and cerebellum.[1]

Neurological Disability Affected Percentage/Age Group

Stuttering and Rapid or Irregular Speech 10-45%

Loss of Speech (Sometimes) 30+ years

Autism (Children) 5-10%

Mental Illness (Children) 30%

Depression and Anxiety (Sometimes) Early Adulthood

Epileptic Seizures (Children) 5-10%

Epileptic Seizures (Adults) 50%

Alzheimer’s Disease (40-59 years) 15%

(60 years) 50-70%

b. Physical:[1][2][4]

- People with Down syndrome often have flattened (especially the bridge of the
nose) and widened faces.
- They also have a small head, short neck, unusual or small ears, a small chin, a
protruding tongue above average in size, and a small mouth.
- Their eyes are almond shaped and slant upwards, and have tiny white Brushfield’s
spots on the iris. The inner corner of the eye may have an epicanthal fold, a
rounded fold of skin.
- Hands and feet on such individuals are small, the fingers short, with small pinky
fingers sometimes curving towards the thumb or abnormal fingertips. There is also
a single palmar crease across the palm.
- Babies, and indeed adults, have decreased muscle tone - their muscles are not
well-defined. They also grow and develop at a lower rate. This means they don’t
reach the average height of non-affected humans or many of the developmental
milestones and also have a higher chance of obesity with age.
- They may have excessively loose and flexible joints (which makes dislocation and
spinal injuries much more common) and a lot of space between the big and second
toe.

(Figure 2.2)
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c. Sensory:

Sensory Disability Affected Percentage/Age Group

Hearing and Vision Disorders 50%+

Vision Problems 38 - 80%

Strabismus (Eyes Don’t Move Together) 20 - 50%

Cataracts 15%

Keratoconus (Cone-Shaped Cornea) More Common than Usual

Glaucoma More Common than Usual

Refractive Errors More Common than Usual

Brushfields’ Spots 38 - 85%

Hearing Problems 50 - 90%

Otitis Media with Effusion 50 - 70%

Ear Infections 40 - 50%

Age-Related Hearing Loss (Occurs Earlier) 10 - 70%

D. Types:
a. Trisomy-21
- Occurs 95% percent of the time. Every single cell has three full separate copies of
chromosome-21.[4]
- Caused by abnormal cell division of either sperm or egg. This irregular division is
called ‘non-disjunction’.[5]

b. Translocation
- Occurs in 3% of affected individuals. Part of or a full chromosome-21 is attached
to another chromosome and not separate. It is ‘translocated’.[4]
- Such people have two copies of chromosome-21 and also additional material from
another chromosome-21 attached to a different chromosome. May be inherited.[2]

c. Mosaicism
- Occurs in 2% of the population with Down syndrome. It is when some body cells
have three copies of the chromosome-21 and others have the normal two.
Characteristics expressed depend on how many normal, healthy cells are present
in the body.[4]
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- This happens after fertilisation. The fertilised egg may have all the correct
chromosomes, but an error in further division may cause some cells to have an
extra copy and others, to not.[6]

E. Diagnosis:
a. Prenatally:
i. Screening Tests:
- Tell whether the probability of a child with Down syndrome is higher or low
during pregnancy. Pose no risks to the mother or child. Do not provide absolute
answers.[4]
- Consists of blood tests for the mother and ultrasounds (sonograms). Can be done
in the first and second trimester. Helps spot Down syndrome features common in
foetuses, called markers.[6]
- During the ultrasound, technicians check behind the baby’s head. Extra fluid here
could be a marker for genetic problems.[4]
- Most common tests are: expanded alpha-fetoprotein screening, nuchal
translucency test and presence of a shortened humerus or femur.[1]
ii. Diagnostic Tests:
- Far more accurate than screening tests but also a little dangerous for mother and
child. Usually conducted after positive screening tests.[4]
- Can cause miscarriage. [6]
- Tests are: amniocentesis, chorionic villus sampling, percutaneous umbilical blood
sampling and fluorescent in situ hybridization.[1]

b. At Birth:
- Can be deduced from a child's features. Or one could obtain the baby’s blood to
study it under a microscope in order to make a karyotype of the cells. The faster
FISH test may also be used.[5]

F. Other Complications:
- Can make many complications arise, like:
➔ Heart defects like congenital heart disease, atrioventricular or ventricular
septal defects, hardening of the arteries, mitral valve problems.
➔ Blood cancers like leukaemia.
➔ Problems with the endocrine system, like the thyroid gland being attacked
by the immune system, causing Grave’s disease. Diabetes mellitus is also
more common.
➔ Gastrointestinal diseases like celiac disease, GI blockage and Hirchsprung’s
disease.
➔ Sleep apnea, temporarily being unable to breathe while asleep.
➔ Dental problems, spinal problems, seizures, hypotonia (muscles not toned),
psychological problems and more.