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BPS 212 Psychology of Exceptionality Including Testosterone Replacement University of Cape Coast

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University of Cape Coast

BPS 212 Psychology of Exceptionality Including Testosterone Replacement University of Cape Coast

CAUSES OF EXCEPTIONALITY
It should be stressed that exceptionalities may occur with no apparent organic or physical
cause visible. If causes are identifiable, they are varied and numerous. They can be congenital,
hereditary, acquired, or accidental. The onset can be: prenatal (before birth), perinatal (during the
process of birth), or postnatal (sometime after birth). In other words exceptionalities can be due
to;
1. Chromosomal causes
2. Genetic / inherited causes /Biological factors and
3. Environmental causes

Chromosomal Causes
The genesis of every human life begins with a single cell weighing about one twentiethmillion of an ounce. This contains our genetic code which determines who we will become.
These instructions orchestrated growth from that single cell to a person made of trillions of cells,
each containing a perfect replica of the original genetic code (Wilson, 2003). The nucleus of
each human cell contains 46 chromosomes which are thread like structures that come in 23 pairs,
one member of each pair coming from each parent. In this manner each parent contributes 50
percent of the offspring‟s genes.
When the gametes are formed, the 46 chromosomes do not always divide evenly. In this
case, instead of a person having 23 pairs or 46 single chromosomes the person ends up having
more or less number of chromosomes. This results in chromosomal abnormalities. Some
examples of the chromosomal abnormalities are Down syndrome, Klinefelter syndrome, Turner
syndrome, Fragile X syndrome, Williams syndrome, Angelman syndrome, Prader-Willi
syndrome and Tay-Sachs disease.
Down syndrome
Down syndrome is a common chromosomal abnormality. It is a chromosomally
transmitted form of intellectual disability that is caused by the presence of an extra or altered 21st
chromosome (Santrock, 2004). Most Down syndrome cases are due to trisomy 21, that is, the
twenty first set of chromosomes becomes triplet instead of a pair (Okyere & Adams 2003). This
results in the person having 47 instead of 46 pairs of chromosomes. A person born with this
syndrome, has a round face, flattened skull, an extra fold over the eyelids, protruding tongue
which may cause articulation problems, short limbs and retardation of motor and mental abilities.
Women between the ages of 18 and 38 are less likely to give birth to a child with Down
syndrome than young or older women less than 18 and over 38 (Morris, Wald, Mutton &
Alberman, 2003). The incidence of Down syndrome increases with the age of the mother. It is 1
in 30 for women aged 45. However, older fathers also may place their offspring at risk of Down
syndrome. According to Santrock (2004) about 5% of children born with this condition have
older fathers. It must be noted that people with Down syndrome exhibit behaviour disorders,
some of which are restlessness, inattentiveness, withdrawal and destructiveness.
Heward (2013) reported that heart defects are common with people with this condition. Also,
they are more prone to ear and respiratory infections.
Klinefelter Syndrome
Klinefelter syndrome is a condition that occurs in men who have an extra X chromosome
in most of their cells. As babies, many XXY males have weak muscles and reduced strength.
They may sit up, crawl, and walk later than other infants. After about age four, XXY males tend
to be taller and may have less muscles control and coordination than other boys of their age.
The syndrome can affect different stages of physical, language and social development.
The most common symptom is infertility. Because they often do not make as much of the male
hormone testosterone as other boys, teenagers with Klinefelter’s syndrome may have less facial
and body hair and may be less muscular than other boys. As teens, XXY males may have larger
breasts, weaker bones, and a lower energy level than other boys. They may have trouble using
language to express them. They may be shy and have trouble fitting in. XXY males can have
normal sex lives, but they usually make little or no sperm. Between 95 percent and 99 percent of
XXY males are infertile because their bodies do not make a lot of sperm.
It is important to start treatment as early as possible. With treatment, most boys grow up
to have normal sex lives, successful careers and normal social relationships. Treatments include
Educational services; Physical, speech and occupational therapy; and Medical treatments
including testosterone replacement
Turner Syndrome
This is a disorder in females which results in either an X Chromosome becoming missing
making the person XO instead of XX or the second X chromosome is partially deleted
(Bramswig 2001; Frigs & Davenpart 2003). Girls with this syndrome are usually short in stature
and have webbed neck and do not develop secondary sex characteristics such as breast during
puberty. They are usually infertile due to non development of female hormones. They have
difficulty in mathematics but their verbal ability is often facilitated (Santrack 2004).
Fragile X Syndrome
This disorder occurs as a result of damage to the X chromosomes in the 23 pair of
chromosomes. The disorder is more frequent in males than females. This is because the second X
chromosome in females negates the disorder‟s negative effects while this is not so in males.
People with this Syndrome have prominent forehead, narrow face, large head, large flat ears,
square chin, large hands and testicles and they are usually moderately to severely intellectual
disability (Okyere and Adams 2003). It must be noted that, people with fragile X Syndrome have
problems with social relationships and have delays in communication skills. Heward (2013
reports that they avoid eye contact and turn the face away during face-to-face interactions. They
also engage in ritualistic forms of greetings and preservative speech which often includes
repetitions of words and phrases.
Williams’s syndrome
The syndrome is caused by mutation of the 7th chromosome. Children affected by this
syndrome have mild to moderate intellectual disability or learning difficulties. They have elfin
face, short nose with a broad nasal tip, wide mouth, full cheeks, full lips, a small chin, a long
neck and short stature.
They are sometimes described as „overly friendly‟. They show lack of reservation
towards strangers. Often they have uneven profiles of skill s with strengths in vocabulary and
storytelling skills. They display weaknesses in visual – spatial skills. They are often hyperactive
and may have difficulty staying on task and may have low tolerance for frustration or teasing
(Heward, 2013)
Angelman syndrome
It is an emerging disorder. Many, but not all, Angelman syndrome individuals have
deletions on chromosome 15 in maternally related regions while others are of unknown
pathogenic origin. The disorder is characterised by physical, motoric and behavioural features.
Physical features include a wide mouth, prominent lower jaw. Motor problems are related to
diverse jerky, sometimes rhythmic movement. Some children experience particular difficulties
with inadequate control of chewing and swallowing which creates feeding problems. Most
children with Angelman Syndrome have severe to profound levels of intellectual disability.
Spoken language is absent in 75 – 80% of children with Angelman Syndrome.
Tay-Sachs disease
It can be inherited from either the mother or the father. It is caused by a mutation in the
15th pair of chromosomes. It results in progressive brain damage, deafness, blindness, seizure,
paralysis and eventually death. Even with the best care, children with Tay-Sachs disease usually
die by age four.
Prader-Willi syndrome
This is caused by a deletion of a portion of the 15th chromosome. Infants with this
condition have hypotonia (floppy muscle) and may have to be tube feed. They have an insatiable
appetite and have constant preoccupation with food. This can lead to life threatening obesity if
food seeking is unmonitored.
The condition is associated with intellectual and learning disabilities and behaviour
problems. Amongst them are impulsivity, aggressiveness, temper tantrums and obsessivecompulsive behaviour. Additionally, they may engage in some self-injurious behaviour such as
skin picking. They have delayed motor skills. Physically, they are short in stature, have small
hands and feet and underdeveloped genitalia. CAUSES OF EXCEPTIONALITY
It should be stressed that exceptionalities may occur with no apparent organic or physical
cause visible. If causes are identifiable, they are varied and numerous. They can be congenital,
hereditary, acquired, or accidental. The onset can be: prenatal (before birth), perinatal (during the
process of birth), or postnatal (sometime after birth). In other words exceptionalities can be due
to;
1. Chromosomal causes
2. Genetic / inherited causes /Biological factors and
3. Environmental causes

Chromosomal Causes
The genesis of every human life begins with a single cell weighing about one twentiethmillion of an ounce. This contains our genetic code which determines who we will become.
These instructions orchestrated growth from that single cell to a person made of trillions of cells,
each containing a perfect replica of the original genetic code (Wilson, 2003). The nucleus of
each human cell contains 46 chromosomes which are thread like structures that come in 23 pairs,
one member of each pair coming from each parent. In this manner each parent contributes 50
percent of the offspring‟s genes.
When the gametes are formed, the 46 chromosomes do not always divide evenly. In this
case, instead of a person having 23 pairs or 46 single chromosomes the person ends up having
more or less number of chromosomes. This results in chromosomal abnormalities. Some
examples of the chromosomal abnormalities are Down syndrome, Klinefelter syndrome, Turner
syndrome, Fragile X syndrome, Williams syndrome, Angelman syndrome, Prader-Willi
syndrome and Tay-Sachs disease.
Down syndrome
Down syndrome is a common chromosomal abnormality. It is a chromosomally
transmitted form of intellectual disability that is caused by the presence of an extra or altered 21st
chromosome (Santrock, 2004). Most Down syndrome cases are due to trisomy 21, that is, the
twenty first set of chromosomes becomes triplet instead of a pair (Okyere & Adams 2003). This
results in the person having 47 instead of 46 pairs of chromosomes. A person born with this
syndrome, has a round face, flattened skull, an extra fold over the eyelids, protruding tongue
which may cause articulation problems, short limbs and retardation of motor and mental abilities.
Women between the ages of 18 and 38 are less likely to give birth to a child with Down
syndrome than young or older women less than 18 and over 38 (Morris, Wald, Mutton &
Alberman, 2003). The incidence of Down syndrome increases with the age of the mother. It is 1
in 30 for women aged 45. However, older fathers also may place their offspring at risk of Down
syndrome. According to Santrock (2004) about 5% of children born with this condition have
older fathers. It must be noted that people with Down syndrome exhibit behaviour disorders,
some of which are restlessness, inattentiveness, withdrawal and destructiveness.
Heward (2013) reported that heart defects are common with people with this condition. Also,
they are more prone to ear and respiratory infections.
Klinefelter Syndrome
Klinefelter syndrome is a condition that occurs in men who have an extra X chromosome
in most of their cells. As babies, many XXY males have weak muscles and reduced strength.
They may sit up, crawl, and walk later than other infants. After about age four, XXY males tend
to be taller and may have less muscles control and coordination than other boys of their age.
The syndrome can affect different stages of physical, language and social development.
The most common symptom is infertility. Because they often do not make as much of the male
hormone testosterone as other boys, teenagers with Klinefelter’s syndrome may have less facial
and body hair and may be less muscular than other boys. As teens, XXY males may have larger
breasts, weaker bones, and a lower energy level than other boys. They may have trouble using
language to express them. They may be shy and have trouble fitting in. XXY males can have
normal sex lives, but they usually make little or no sperm. Between 95 percent and 99 percent of
XXY males are infertile because their bodies do not make a lot of sperm.
It is important to start treatment as early as possible. With treatment, most boys grow up
to have normal sex lives, successful careers and normal social relationships. Treatments include
Educational services; Physical, speech and occupational therapy; and Medical treatments
including testosterone replacement
Turner Syndrome
This is a disorder in females which results in either an X Chromosome becoming missing
making the person XO instead of XX or the second X chromosome is partially deleted
(Bramswig 2001; Frigs & Davenpart 2003). Girls with this syndrome are usually short in stature
and have webbed neck and do not develop secondary sex characteristics such as breast during
puberty. They are usually infertile due to non development of female hormones. They have
difficulty in mathematics but their verbal ability is often facilitated (Santrack 2004).
Fragile X Syndrome
This disorder occurs as a result of damage to the X chromosomes in the 23 pair of
chromosomes. The disorder is more frequent in males than females. This is because the second X
chromosome in females negates the disorder‟s negative effects while this is not so in males.
People with this Syndrome have prominent forehead, narrow face, large head, large flat ears,
square chin, large hands and testicles and they are usually moderately to severely intellectual
disability (Okyere and Adams 2003). It must be noted that, people with fragile X Syndrome have
problems with social relationships and have delays in communication skills. Heward (2013
reports that they avoid eye contact and turn the face away during face-to-face interactions. They
also engage in ritualistic forms of greetings and preservative speech which often includes
repetitions of words and phrases.
Williams’s syndrome
The syndrome is caused by mutation of the 7th chromosome. Children affected by this
syndrome have mild to moderate intellectual disability or learning difficulties. They have elfin
face, short nose with a broad nasal tip, wide mouth, full cheeks, full lips, a small chin, a long
neck and short stature.
They are sometimes described as „overly friendly‟. They show lack of reservation
towards strangers. Often they have uneven profiles of skill s with strengths in vocabulary and
storytelling skills. They display weaknesses in visual – spatial skills. They are often hyperactive
and may have difficulty staying on task and may have low tolerance for frustration or teasing
(Heward, 2013)
Angelman syndrome
It is an emerging disorder. Many, but not all, Angelman syndrome individuals have
deletions on chromosome 15 in maternally related regions while others are of unknown
pathogenic origin. The disorder is characterised by physical, motoric and behavioural features.
Physical features include a wide mouth, prominent lower jaw. Motor problems are related to
diverse jerky, sometimes rhythmic movement. Some children experience particular difficulties
with inadequate control of chewing and swallowing which creates feeding problems. Most
children with Angelman Syndrome have severe to profound levels of intellectual disability.
Spoken language is absent in 75 – 80% of children with Angelman Syndrome.
Tay-Sachs disease
It can be inherited from either the mother or the father. It is caused by a mutation in the
15th pair of chromosomes. It results in progressive brain damage, deafness, blindness, seizure,
paralysis and eventually death. Even with the best care, children with Tay-Sachs disease usually
die by age four.
Prader-Willi syndrome
This is caused by a deletion of a portion of the 15th chromosome. Infants with this
condition have hypotonia (floppy muscle) and may have to be tube feed. They have an insatiable
appetite and have constant preoccupation with food. This can lead to life threatening obesity if
food seeking is unmonitored.
The condition is associated with intellectual and learning disabilities and behaviour
problems. Amongst them are impulsivity, aggressiveness, temper tantrums and obsessivecompulsive behaviour. Additionally, they may engage in some self-injurious behaviour such as
skin picking. They have delayed motor skills. Physically, they are short in stature, have small
hands and feet and underdeveloped genitalia.

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BPS 212 Psychology of Exceptionality Including Testosterone Replacement University of Cape Coast

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