CHAPTER 7: THE NURSING ROLE IN GENETIC ASSESSMENT AND COUNSELING

I. Genetic Disorders
- Can be passed from generation to the next
- They result from some disorder in gene or chromosome structure and occur in 5% to 6%
of newborns.
- Genetics is the study of the way such disorders occur.
- Cytogenetics is the study of chromosomes by light microscopy and the method by which
chromosomal aberrations are identified
- Can occur at the moment an ovum and sperm fuse or even earlier/ at the time of fetal
testing or after birth.

A. Nature of Inheritance
 Genes are the basic units of heredity that determine both the physical and
cognitive characteristics of people. Composed of segments of DNA
(deoxyribonucleic acid), they are woven into strands in the nucleus of all
body cells to form chromosomes.
 In humans, each cell, with the exception of the sperm and ovum, contains
46 chromosomes (22 pair of autosomes and 1 pair of sex chromosomes).
Spermatozoa and ova each carry only half of the chromosome number, or
23 chromosomes.
 A person’s phenotype refers to his or her outward appearance or the
expression of genes. A person’s genotype refers to his or her actual gene
composition.
 A person’s genome is the complete set of genes present (about 50,000 to
100,000). A normal genome is abbreviated as 46XX or 46XY (designation of
the total number of chromosomes plus a graphic description of the sex
chromosomes present).
 If a chromosomal aberration exists, it is listed after the sex chromosome
pattern. In such abbreviations, the letter p stands for short arm defects and
q stands for defects on the long arm of the chromosome. The abbreviation
46XX5p, for example, is the abbreviation for a female with 46 total
chromosomes but with the short arm of chromosome 5 missing (cri-du-chat
syndrome). In Down syndrome, the person has an extra chromosome 21,
which is abbreviated as 47XX21or 47XY21

B. Mendelian Inheritance: Dominant and Recessive Patterns

 These principles were discovered and described by Gregor Mendel, an
Austrian naturalist, in the 1800s and are known as mendelian laws
 A person who has two like genes for a trait—two healthy genes, for example
—on two like chromosomes is said to be homozygous for that trait. If the
genes differ (a healthy gene from the mother and an unhealthy gene from
the father, or vice versa), the person is said to be heterozygous for that
trait.
  Many genes are dominant in their action over others. When paired with
nondominant (recessive) genes, dominant genes are always expressed in
preference to the recessive genes.
 An individual with two homozygous genes for a dominant trait is said to be
homozygous dominant; an individual with two genes for a recessive trait is
homozygous recessive.

C. Inheritance of Disease

1. Autosomal Dominant Disorders

 Most do occur cause structural defects
 It is either a person has two unhealthy genes (is homozygous dominant)
or is heterozygous, with the gene causing the disease stronger than the
corresponding healthy recessive gene for the same trait.
 If a person who is heterozygous for an autosomal dominant trait (the
usual pattern) mates with a person who is free of the trait, as shown in
Figure 7.2A, the chances are even (50%) that a child born to the couple
would have the disorder or would be disease and carrier free (i.e.,
carrying no affected gene for the disorder).
 Ex. (a) Huntington disease is a progressive neurologic disorder,
characterized by loss of motor control and intellectual deterioration.
The symptoms do not manifest themselves until people reach 35 to 45
years of age. Because some people who might develop this disorder
want to know before that age if they will develop the disease, a test is
now available to analyze for the specific gene on chromosome 4 that
causes the disorder. There is no cure. (b) Facioscapulohumeral muscular
dystrophy (a disorder that results in muscle weakness), a form of
osteogenesis imperfecta (a disorder in which bones are exceedingly
brittle), (c) Marfan syndrome (a disorder of connective tissue that
results in an individual being thinner and taller than usual and perhaps
with associated heart disorders and (d) Breast and breast/ovarian
cancer syndrome that accounts for 5% to 10% of breast cancer in
women.
 In assessing family genograms (maps of family relationships) for the
incidence of inherited disorders, a number of common findings are
usually discovered when a dominantly inherited pattern is present in a
family:

1. One of the parents of a child with the disorder also will have the
disorder (a vertical transmission picture).
2. The sex of the affected individual is unimportant in terms of
inheritance.
3. There is usually a history of the disorder in other family
2. Autosomal Recessive Inheritance
 Tend to be biochemical or enzymatic, such do not occur unless two
genes for the disease are present (i.e., a homozygous recessive pattern).
 Examples include cystic fibrosis, adrenogenital syndrome, albinism, Tay-
Sachs disease, galactosemia, phenylketonuria, limb-girdle muscular
dystrophy, and Rhfactor incompatibility.

Cystic fibrosis is caused by an errant gene on the seventh chromosome.

As many as 1 in every 29 Caucasian people carries the trait.

A. Male and female carrying both recessive gene for cystic fibrosis
25% = disease and carrier free ( homozygous dominant for healthy
gene)
50% = like the parents, a carrier but unexpressed ( heterozygous)
25% = have the disease (homozygous recessive)
B. Heterozygous woman of cystic fibrosis and man with no trait for
cystic fibrosis
50% = like the mother, heterozygous
50% = completely disorder and carrier free
NOTE: There is no chance in this instance that any of their children
will have the disorder. However, they should be counseled that if a
child of theirs who carries the trait has children with a sexual
partner who also has a recessive gene for the trait, grandchildren
could manifest the disease.
C. Person with cystic fibrosis (homozygous recessive) should choose a
sexual partner without the trait, none of their children would have
the disorder, but all would be carriers of a recessive gene for the
disorder.
D. A person with cystic fibrosis mated with a person with an
unexpressed gene for the disease, there would be a 50% chance
that a child would have the disorder (homozygous) and a 50%
chance that he or she would be heterozygous for the disorder
E. A person with the disorder mated with a person who also had the
disorder, there is a 100% chance that their child would have the
disorder.

 When family genograms are assessed for the incidence of inherited

disease, situations commonly discovered when a recessively inherited
disease is present in the family include:
1. Both parents of a child with the disorder are clinically free of the disorder.
2. The sex of the affected individual is unimportant in terms of inheritance.
3. The family history for the disorder is negative—that is, no one can
identify anyone else who had it (a horizontal transmission pattern).
 4. A known common ancestor between the parents sometimes exists. This
explains how both male and female came to possess a like gene for the
disorder.

3. X-Linked Dominant Inheritance

 Disorders that are transmitted only by female chromosomes
 There are about 300 known disorders associated this way and their
transmission is termed X-linked inheritance. If the affected gene is
dominant, only one X chromosome with the trait need be present for
symptoms of the disorder to be manifested
 Ex. Alport’s syndrome, a progressive kidney failure disorder.
 Family characteristics seen with this type of inheritance usually include:
1. All individuals with the gene are affected (the gene is dominant).
2. All female children of affected men are affected; all male children of
affected men are unaffected.
3. It appears in every generation.
4. All children of homozygous affected women are affected. Fifty
percent of the children of heterozygous affected women are affected

4. X-Linked Recessive Inheritance

 Disorders not dominant, but recessive.
 When the inheritance of a recessive gene comes from both parents
(homozygous recessive) it appears to be incompatible with life.
Therefore, females who inherit the affected gene will be heterozygous,
and, because a normal gene is also present, the expression of the
disease will be blocked.
 On the other hand, because males have only one X chromosome, the
disease will be manifested in any male children who receive the affected
gene from their mother.
 Hemophilia A and Christmas disease (blood-factor deficiencies), color
blindness, Duchenne (pseudohypertrophic) muscular dystrophy, and
fragile X syndrome (a cognitive challenge syndrome)
 When X-linked recessive inheritance is present in a family, a family
genogram will reveal:
1. Only males in the family will have the disorder.
 2. A history of girls dying at birth for unknown reasons often exists
(females who had the affected gene on both X chromosomes).
3. Sons of an affected man are unaffected.
4. The parents of affected children do not have the disorder.

Y-Linked Inheritance. Although genes responsible for features such as

height and tooth size are found on the Y chromosome, tall stature and
perhaps aggressive personality are the only consistent phenotypic
features associated with having an extra Y chromosome (karyotype
47XYY)

5. Multifactorial (polygenic) Inheritance

 Heart disease, diabetes, pyloric stenosis, cleft lip and palate, neural tube
disorders, hypertension, and mental illness tend to have a higher-
thanusual incidence in some families. They appear to occur from
multiple gene combinations possibly combined with environmental
factors.
 Diabetes has been extensively studied in this regard.
 Certain human lymphocyte antigens (HLAs) inherited from both parents
appear to play a role in genetic susceptibility to diabetes mellitus.
Children who will develop diabetes mellitus can be shown to have an
increased frequency of HLA B8, B15, DR3, and DR4 on chromosome 6.
They lack DR2, an HLA that appears to be protective against diabetes
mellitus
 Diseases caused by multiple factors this way do not follow Mendelian
laws because more than a single gene or HLA is involved. It may be
more difficult for parents to understand why these disorders occur
because their incidence is so unpredictable
 Mitochondrial Inheritance. Mitochondria are cell organelles that are
found outside the cell nucleus. They are inherited solely from the
cytoplasm of the ovum. Male carriers cannot pass a disorder carried in
the mitochondria to any of their children. Females, on the other hand,
will pass mitochondrial disorders to 100% of their children. A number of
rare myopathies (muscle diseases) are inherited in this way
(Manipalviratn, Trivax, & Huang, 2007).

6. Imprinting
 Refers to the differential expression of genetic material and allows
researchers to identify whether the chromosomal material has come
from the male or female parent.
 In some instances, such as hydatidiform mole, an embryonic disorder, it
can be shown that two separate sperm fertilized an ovum
  In Prader-Willi syndrome, a chromosome 15 abnormality in which
children are severely obese and cognitively challenged, no paternal
contribution is present at certain gene points (Benarroch et al., 2007

D. Chromosomal Abnormalities ( Cytogenic Disorders)

 Abnormality occurs because through the fault in the number of structure of
chromosomes which results in missing or distorted genes
 When chromosomes are photographed and displayed, the resulting
arrangement is termed a karyotype.
 The number of chromosomes and specific parts of chromosomes can be
identified by karyotyping or by a process termed fluorescent in situ
hybridization (FISH).

1. Nondisjunction Abnormalities
 Chromosomal abnormalities occur if the meiosis division is
uneven (nondisjunction). The result may be that one new sperm
cell or ovum has 24 chromosomes and the other has only 22.
 If a spermatozoon or ovum with 24 or 22 chromosomes fuses
with a normal spermatozoon or ovum, the zygote (sperm and
ovum combined) will have either 47 or 45 chromosomes, not
the normal 46.
 The presence of 45 chromosomes does not appear to be
compatible with life, and the embryo or fetus probably will be
aborted.
 Down syndrome (trisomy 21) (47XX21or 47XY21) is an example
of a disease in which the individual has 47 chromosomes. There
are three rather than two copies of chromosome 21
 The incidence of Down syndrome increases with advanced
maternal age and is highest if the mother is older than 35 years
and the father is older than 55. Thus, aging seems to present an
obstacle to clean cell division. The incidence is 1:100 in women
older than 40 years, compared with 1:1500 in women younger
than 20 years.
 Other examples: trisomy 13 and trisomy 18
 If nondisjunction occurs in the sex chromosomes, other types of
abnormalities occur. Turner and Klinefelter syndromes are the
most common types. In Turner syndrome (45XO), marked by
webbed neck, short stature, sterility, and possibly cognitive
challenge, the individual, although female, has only one X
chromosome (or has two X chromosomes but one is defective).
Her appearance (phenotype) is female because of the one X
 chromosome. In Klinefelter’s syndrome (marked by sterility and
possibly cognitive challenge), the individual has male genitals
but the sex chromosomal pattern is 47XXY or an extra X
chromosome is present.

2. Deletion of Abnormalities
 Are a form of chromosome disorder in which part of a
chromosome breaks during cell division, causing the affected
person to have the normal number of chromosomes plus or
minus an extra portion of a chromosome, such as 45.75
chromosomes or 47.5. For example, in cri-du-chat syndrome
(46XY5q), one portion of chromosome 5 is missing.

3. Translocation Abnormalities
 Are perplexing situations in which a child gains an additional
chromosome through another route.
 A form of Down syndrome occurs as an example of this. In this
instance, one parent of the child has the correct number of
chromosomes (46), but chromosome 21 is misplaced; it is
abnormally attached to another chromosome, such as
chromosome 14 or 15. The parent’s appearance and functioning
are normal because the total chromosome count is a normal 46.
 He or she is termed a balanced translocation carrier

4. Mosaicism
  An abnormal condition that is present when the nondisjunction
disorder occurs after fertilization of the ovum, as the structure
begins mitotic (daughter-cell) division.
 If this occurs, different cells in the body will have different
chromosome counts. The extent of the disorder depends on the
proportion of tissue with normal chromosome structure to
tissue with abnormal chromosome constitution.
 Children with Down syndrome who have nearnormal
intelligence may have this type of pattern. The occurrence of
such a phenomenon at this stage of development suggests that
a teratogenic (harmful to the fetus) condition, such as x-ray or
drug exposure, existed at that point to disturb normal cell
division. This genetic pattern in a female with Down syndrome
caused by mosaicism would be abbreviated as 46XX/47XX21to
show that some cells contain 46 and some 47 chromosomes

5. Isochromosomes
 If a chromosome accidentally divides not by a vertical
separation but by a horizontal one, a new chromosome with
mismatched long and short arms can result. This is an
isochromosome.
 It has much the same effect as a translocation abnormality
when an entire extra chromosome exists. Some instances of
Turner syndrome (45XO) may occur because of isochromosome
formation.

II. Genetic Counseling

Any individual concerned about the possibility of transmitting a disease to his or her children
should have access to genetic counseling for advice on the inheritance of disease. Such
counseling can serve to:
• Provide concrete, accurate information about the process of inheritance and inherited
disorders
• Reassure people who are concerned that their child may inherit a particular disorder that
the disorder will not occur
• Allow people who are affected by inherited disorders to make informed choices about
future reproduction
• Offer support to people who are affected by genetic disorders

 Genetic counseling can result in making individuals feel “well” or free of guilt for the
first time in their lives if they discover that the disorder they were worried about
was not an inherited one but was rather a chance occurrence
 herited one but was rather a chance occurrence. In other instances, counseling
results in informing individuals that they are carriers of a trait that is responsible for
 a child’s condition. Even when people understand that they have no control over
this, knowledge about passing a genetic disorder to a child can cause guilt and self-
blame. Marriages and relationships can end unless both partners receive adequate
support.
 It is essential that information revealed in genetic screening be kept confidential,
because such information could be used to damage a person’s reputation or harm a
future career or relationship.
 The ideal time for counseling is before a first pregnancy. Some couples take this step
even before committing themselves to marriage so they can offer not to involve
their partner in a marriage if children of the marriage would be subject to a serious
inherited disorder. Other couples first become aware of the need for genetic
counseling after the birth of a first child with a disorder.
 Even if a couple decides not to have any more children, it is important that they
know that genetic counseling is available should their decision change. Also be
certain that they are aware that as their children reach reproductive age, they, too,
may benefit from genetic counseling. Couples who are most apt to benefit from a
referral for genetic testing or counseling include:
 A couple who has a child with a congenital disorder or an inborn error of
metabolism.
 A couple whose close relatives have a child with a genetic disorder such as a
translocation disorder or an inborn error of metabolism
 Any individual who is a known balanced translocation carrier.
 Any individual who has an inborn error of metabolism or chromosomal
disorder.
 A consanguineous (closely related) couple.
 Any woman older than 35 years and any man older than 55 years
 Couples of ethnic backgrounds in which specific illnesses are known to occur

A. Nursing Responsibilities
Nurses play important roles in assessing for signs and symptoms of genetic
disorders, in offering support to individuals who seek genetic counseling, and in
helping with reproductive genetic testing procedures by such actions as:
• Explaining to a couple what procedures they can expect to undergo
• Explaining how different genetic screening tests are done and when they are
usually offered
• Supporting a couple during the wait for test results
• Assisting couples in values clarification, planning, and decision making based on
test results

First, the individual or couple being counseled needs a clear understanding

of the information provided.
Second, it is never appropriate for any health care provider to impose his or
her own values or opinions on others.
B. Assessment for Genetic Disorders
 History: Often difficult because the facts detailed may evoke uncomfortable
emotions such as sorrow, guilt, or inadequacy in parents. Try, however, to
obtain information and document diseases in family members for a
minimum of three generations. Remember to in lude half brothers and
sisters or anyone related in any way as family. Document the mother’s age
because some disorders increase in incidence with age. Document also
whether the parents are consanguineous or related to each other.
Documenting the family’s ethnic background can reveal risks for certain
disorders that occur more commonly in some ethnic groups than others.
 Physical Assessment: During inspection, pay particular attention to certain
body areas, such as the space between the eyes; the height, contour, and
shape of ears; the number of fingers and toes, and the presence of webbing.
Dermatoglyphics (the study of surface markings of the skin) can also be
helpful. Note any abnormal fingerprints or palmar creases as these are
present with some disorders. Abnormal hair whorls or coloring of hair can
also be present. Careful inspection of newborns is often sufficient to identify
a child with a potential chromosomal disorder. Infants with multiple
congenital anomalies, those born at less than 35 weeks’ gestation, and
those whose parents have had other children with chromosomal disorders
need extremely close assessment
 Diagnostic Testing: Before pregnancy, karyotyping of both parents and an
already affected child provides a picture of the chromosome pattern that
can be used to predict occurences in future children. Once a woman is
pregnant, several other tests may be performed to help in the prenatal
diagnosis of a genetic disorder. These include maternal serum alpha-
fetoprotein (MSAFP), chronic villi sampling (CVS), amniocentesis,
percutaneous umbilical blood sampling (PUBS), ultrasound, and fetoscopy.
a. Karyotyping. For karyotyping, a sample of peripheral venous blood
or a scraping of cells from the buccal membrane is taken. Cells are
allowed to grow until they reach metaphase, the most easily
observed phase. Cells are then stained, placed under a microscope,
and photographed.
A newer method of staining, FISH, allows karyotyping to be done
immediately, rather than waiting for the cells to reach metaphase.
This makes it possible for a report to be obtained in only 1 day. Fetal
skin cells can be obtained by amniocentesis or CVS. A few fetal cells
circulate in the maternal bloodstream, most noticeably
trophoblasts, lymphocytes, and granulocytes. They are present but
few in number during the first and second trimesters but plentiful
during the third trimester. Such cells can be cultured and used for
genetic testing for such disorders as the trisomies
b. Maternal Serum Screening. Alpha-fetoprotein (AFP) is a
glycoprotein produced by the fetal liver that reaches a peak in
maternal serum between the 13th and 32nd week of pregnancy
The level is elevated with fetal spinal cord disease (more than twice
the value of the mean for that gestational age) and is decreased in a
fetal chromosomal disorder such as trisomy 21. Most pregnant
women have an MSAFP test done routinely at the 15th week of
pregnancy. If the result is abnormal, amniotic fluid is then assessed.
Unfortunately, the MSAFP test has a false-positive rate of about
30% if the date of conception is not well documented. Use of a
“triple study” (AFP, estriol, and hCG) reduces this false-positive rate,
although false-positive reports still occur. Analysis of a pregnancy-
associated plasma protein A, which is also increased with a Down
syndrome pregnancy, and measurement of the fetal neck thickness
by ultrasound are still other measures used for analysis if an MSAFP
test is positive. Women with an elevated serum result need support
while they wait for ultrasound or amniocentesis confirmation as
they are facing what may be a very grave finding in their infant.
Receiving a false-positive report is unfortunate as it can potentially
interfere with the mother’s bonding with her infant.

c. Chorionic Villi Sampling. CVS is a diagnostic technique that involves

the retrieval and analysis of chorionic villi from the growing
placenta for chromosome or DNA analysis (Alfirevic, Mujezinovic, &
Sundbert, 2009). The test is highly accurate and yields no more
false-positive results than does amniocentesis. Although this
procedure may be done as early as week 5 of pregnancy, it is more
commonly done at 8 to 10 weeks. With this technique, the chorion
cells are located by ultrasound. A thin catheter is then inserted
vaginally, or a biopsy needle is inserted abdominally or
intravaginally, and a number of chorionic cells are removed for
analysis (Fig. 7.12). CVS carries a small risk (less than 1%) of causing
excessive bleeding, leading to pregnancy loss. There have been
some instances of children being born with missing limbs after the
procedure (limb reduction syndrome). This has occurred with a high
enough frequency that women need to be well informed of these
risks beforehand.

d. Amniocentesis. Amniocentesis is the withdrawal of amniotic fluid

through the abdominal wall for analysis at the 14th to 16th week of
pregnancy (Alfirevic, Mujezinovic, & Sunberg, 2009). Because
amniotic fluid has reached about 200 mL at this point, enough fluid
can be withdrawn for karyotyping of skin cells found in the fluid as
well as an analysis of AFP or acetylcholinesterase. If no
acetylcholinesterase, a breakdown product of blood, is found in the
specimen, it confirms that an elevated AFP level is not a false-
 positive reading caused by blood in the fluid. For the procedure, a
pocket of amniotic fluid is located by ultrasound. Then a needle is
inserted transabdominally, and about 20 mL of fluid is aspirated.
Skin cells in the fluid are karyotyped for chromosomal number and
structure. The level of AFP is analyzed. Some disorders, such as Tay-
Sachs disease, can be identified by the lack of a specific enzyme,
such as hexosaminidase A, in amniotic fluid.

e. Percutaneous Umbilical Blood Sampling. PUBS, or cordocentesis, is

the removal of blood from the fetal umbilical cord at about 17
weeks using an amniocentesis technique (Fig. 7.13). This allows
analysis of blood components as well as more rapid karyotyping
than is possible when only skin cells are removed. PUBS is discussed
further in Chapter 9.

f. Fetal Imaging. Magnetic resonance imaging (MRI) and ultrasound

are diagnostic tools used to assess a fetus for general size and
structural disorders of the internal organs, spine, and limbs.
Because some genetic disorders are associated with physical
appearance, both of these methods may be helpful. Ultrasound is
used concurrently with amniocentesis.

g. Fetoscopy. Fetoscopy is the insertion of a fiberoptic fetoscope

through a small incision in the mother’s abdomen into the uterus
and membranes to visually inspect the fetus for gross abnormalities.
It can be used to confirm an ultrasound finding, to remove skin cells
for DNA analysis, or to perform surgery for a congenital disorder
such as a stenosed urethra.

h. Preimplantation Diagnosis. Preimplantation diagnosis is possible for

in vitro fertilization procedures. It may be possible in the future for
a naturally fertilized ovum to be removed from the uterus by lavage
before implantation and studied for DNA analysis this same way.
The ovum would then be reinserted or not, depending on the
findings and the parents’ wishes. This would provide genetic
information extremely early in a pregnancy

C. Reproductive Alternative
 Artificial insemination by donor (AID) is an option for couples if the
genetic disorder is one inherited by the male partner or is a recessively
inherited disorder carried by both partners. AID is available in all major
communities and can permit the couple to experience the satisfaction and
enjoyment of a usual pregnancy. f the inherited problem is one arising
from the female partner, surrogate embryo transfer is an assisted
reproductive technique that is a possibility (van Berkel, Candido, & Pijffers,
 2007). An oocyte donated by a friend or relative or provided by an
anonymous donor is fertilized by the husband’s sperm in the laboratory
and then implanted into a woman’s uterus. Like AID, donor embryo
transfer offers the couple a chance to experience a normal pregnancy
 Adoption is an alternative many couples can also find rewarding (see
Chapter 3). Choosing to remain child-free should not be discounted as a
viable option. Many couples who have every reason to think they would
have children without a genetic disorder choose this alternative because
they believe their existence is full and rewarding without the presence of
children

D. Future Possibilities
 Stem cell research is looking at the possibility that immature cells (stem
cells) could be implanted into an embryo with a known abnormal genetic
makeup, replacing the abnormal cells or righting the affected child’s
genetic composition (Wiener et al., 2007). Although presently possible,
stem cell research is costly and produces some ethical questions (e.g.,
although stem cells can be harvested from cord blood, adult skin cells or
menstrual blood, will these be able to serve as main sources of donor DNA
for the new technology?).

E. Legal and Ethical Aspects of Genetic Screening and Counseling

Nurses can be instrumental in seeing that couples who seek genetic counseling
receive results in a timely manner and with compassion about what their results
may mean to future childbearing. Always keep in mind several legal responsibilities
of genetic testing, counseling, and therapy, including:
• Participation by couples or individuals in genetic screening must be elective.
• People desiring genetic screening must sign an informed consent for the
procedure.
• Results must be interpreted correctly yet provided to the individuals as quickly as
possible.
• The results must not be withheld from the individuals and must be given only to
those persons directly involved.
• After genetic counseling, persons must not be coerced to undergo procedures
such as abortion or sterilization. Any procedure must be a free and individual
decision.
III. Common Chromosomal Disorders Resulting in Physical or Cognitive Developmental
Disorders

A. Trisomy 13 Syndrome (47XY13 or 47XX13)

 In trisomy 13 syndrome (Patau syndrome), the child has an extra chromosome
13 and is severely cognitively challenged.
 The incidence of the syndrome is low, approximately 0.45 per 1000 live births.
 Midline body disorders such as cleft lip and palate, heart defects, particularly
ventricular septal defects, and abnormal genitalia are present (see Fig. 7.11).
 Other common findings include microcephaly with abnormalities of the
forebrain and forehead; eyes that are smaller than normal (microphthalmos) or
absent; and low-set ears.
 Most of these children do not survive beyond early childhood.

B. Trisomy 18 Syndrome (47XY18 or 47XX18)

 Children with trisomy 18 syndrome have three copies of chromosome 18.
 The incidence is approximately 0.23 per 1000 live births.
 These children are severely cognitively challenged and tend to be small for
gestational age at birth, have markedly low-set ears, a small jaw, congenital
heart defects, and usually misshapen fingers and toes (the index finger deviates
or crosses over other fingers).
 Also, the soles of their feet are often rounded instead of flat (rocker-bottom
feet).
 As in trisomy 13 syndrome, most of these children do not survive beyond early
infancy.

C. Cri-du-Chat Syndrome (46XX5p or 46XY5P)

 Cri-du-chat syndrome is the result of a missing portion of chromosome 5.
 In addition to an abnormal cry, which sounds much more like the sound of a cat
than a human infant’s cry, children with cri-du-chat syndrome tend to have a
small head, wide-set eyes, and a downward slant to the palpebral fissure of the
eye.
 They are severely cognitively challenged.

D. Turner Syndrome (45X0)

 The child with Turner syndrome (gonadal dysgenesis) has only one functional X
chromosome.
 The child is short in stature and has only streak (small and nonfunctional)
ovaries. She is sterile and with the exception of pubic hair, secondary sex
characteristics do not develop at puberty. The hairline at the nape of the neck is
low set, and the neck may appear to be webbed and short.
 A newborn may have appreciable edema of the hands and feet and a number of
congenital anomalies, most frequently coarctation (stricture) of the aorta and
kidney disorders.
  The incidence of the syndrome is approximately 1 per 10,000 live births. The
disorder can be identified with an ultrasound during pregnancy because of the
increased neck folds.
 Although children with Turner syndrome may be severely cognitively
challenged, difficulty in this area is more commonly limited to learning
disabilities.
 Socioemotional adjustment problems may accompany the syndrome because of
the lack of fertility and if the nuchal folds are prominent. Human growth
hormone administration may help children with Turner syndrome achieve
additional height (Baxter et al., 2009).
 If treatment with estrogen is begun at approximately 13 years of age, secondary
sex characteristics will appear, and osteoporosis from lack of estrogen during
growing years may be prevented.
 If females continue taking estrogen for three out of every four weeks, this
produces withdrawal bleeding that results in a menstrual flow. This flow,
however, does not correct the problem of sterility. Gonadal tissue is scant and
inadequate for ovulation because of the basic chromosomal aberration.

E. Klinefelter Syndrome (47XXY)

 Infants with Klinefelter syndrome are males with an extra X chromosome.
Characteristics of the syndrome may not be noticeable at birth.
 At puberty, secondary sex characteristics do not develop; the child has small
testes that produce ineffective sperm (Porche, 2007).
 Affected individuals tend to develop gynecomastia (increased breast size) and
have an increased risk of male breast cancer (Pyeritz, 2009).
 The incidence is about 1 per 1000 live births.
 Karyotyping can be used to reveal the additional X chromosome.

F. Fragile X Syndrome (46XY23q)

 Fragile X syndrome is the most common cause of cognitive challenge in males.
 It is an X-linked disorder in which one long arm of an X chromosome is defective
which results in inadequate protein synaptic responses (Bear et al., 2008).
 The incidence is about 1 in 1000 live births. Before puberty, boys with fragile X
syndrome typically may demonstrate maladaptive behaviors such as
hyperactivity and autism.
 They may have reduced intellectual functioning, with marked deficits in speech
and arithmetic (Kornman et al., 2007). They may be identified by the presence
of a large head, a long face with a high forehead, a prominent lower jaw, and
large protruding ears. Hyperextensive joints and cardiac disorders may also be
present. After puberty, enlarged testicles may become evident. Affected
individuals are fertile and can reproduce.
 Carrier females may show some evidence of the physical and cognitive
characteristics. Although intellectual function from the syndrome cannot be
improved, both folic acid and an antipsychotic drug such as phenothiazines may
improve symptoms of poor concentration and impulsivity.
G. Down Syndrome (Trisomy 21) (47XY21 or 47XX21)
 Trisomy 21, the most frequently occurring chromosomal abnormality, occurs in
about 1 in 800 pregnancies.
 The number of children born with the disorder is considerably less as many
women choose to end pregnancies when the diagnosis is made (Witters & Fryns,
2008).
 The physical features of children with Down syndrome are so marked that fetal
diagnosis is possible by ultrasound in utero. The nose is broad and flat. The
eyelids have an extra fold of tissue at the inner canthus (an epicanthal fold), and
the palpebral fissure (opening between the eyelids) tends to slant laterally
upward. The iris of the eye may have white specks, called Brushfield spots. The
tongue may protrude from the mouth because the oral cavity is smaller than
usual. The back of the head is flat, the neck is short, and an extra pad of fat at
the base of the head causes the skin to be so loose it can be lifted easily. The
ears may be low-set. Muscle tone is poor, giving the baby a rag-doll appearance.
This can be so lax that the child’s toe can be touched against the nose (not
possible in the average mature newborn). The fingers of many children with
Down syndrome are short and thick, and the little finger is often curved inward.
There may be a wide space between the first and second toes and between the
first and second fingers. The palm of the hand shows a peculiar crease (a simian
line), which is a single horizontal palm crease rather than the usual three
creases in the palm (Fig. 7.14).
 Children with Down syndrome are usually cognitively challenged to some
degree. The challenge can range from an intelligence quotient (IQ) of 50 to 70 to
a child who is profoundly affected (IQ less than 20). The extent of the cognitive
challenge is not evident at birth. The fact that the brain is not developing well is
evidenced by a head size that is usually smaller than the 10th or 20th percentile
at well-child health care visits.
 These children also appear to have altered immune function as they are prone
to upper respiratory tract infections. Congenital heart disease, especially
atrioventricular defects, is common. Stenosis or atresia of the duodenum,
strabismus, and cataract disorders are also common. For as yet undetected
reasons, acute lymphocytic leukemia occurs approximately 20 times more
frequently in children with Down syndrome than in the general population. Even
if children are born without an accompanying disorder such as heart disease,
their lifespan usually is only 50 to 60 years, because aging seems to occur faster
than normal.

H. Childhood Tumors
 A number of cancers in children are also associated with chromosomal
aberrations. Chief among these are retinoblastoma (chromosome 13), Wilms’
tumor (chromosome 11) and neuroblastoma (chromosome 1 or 11) (Pyeritz,
2009)