Group 1 - Trisomy X

Group Members:
Delos Santos, Clarizza Legaspi, Darren
De Leon, Charles Maneclang, Audrey
Fujibayashi, Alisa Paeldon, Jeizel
Lacson, Veronica Reonal, Jubilee

DESCRIPTION
A female's cells contain an extra X chromosome, which causes Trisomy X, also
known as triple X syndrome or 47,XXX. Most of the time, this chromosomal change
does not result in any distinctive genetic features, however, females with this syndrome
may be taller than the average. The majority of females with trisomy X develop sexually
normally and are able to get pregnant.

Trisomy X is linked to a higher risk of learning disorders and a retarded speech and
language development. It is also possible for the development of motor abilities (like
sitting and walking) to be delayed, as well as the formation of hypotonia, behavioral
issues, and emotional problems. About 10% of the affected females suffer seizures or
kidney problems.

PREVALENCE
Trisomy X is a female-only disorder characterized by the presence of an extra X
chromosome. Females normally have two X chromosomes; however, trisomy X females
have three X chromosomes. Trisomy X occurs at random as a result of errors in
reproductive cell division in one of the parents. This disorder affects one in every 900 to
1,000 live births.

RISK FACTORS
Trisomy X is a genetic disorder, but it is not inherited. The presence of the extra
X chromosome results from sporadic, random errors during the normal division of
reproductive cells in one of the parents. Studies suggest that the risk of such errors
increases with advanced maternal age.

SIGNS AND SYMPTOMS

Occasionally, significant symptoms may occur, which vary among individuals.
These signs and symptoms may show up as:

● Delayed development of speech and language skills, as well as motor skills,

such as sitting up and walking
● Learning disabilities, such as difficulty with reading, understanding, and
math
● Behavioral problems, such as attention-deficit/hyperactivity disorder (ADHD)
or symptoms of autism spectrum disorder
● Psychological problems, such as anxiety and depression
● Problems with fine and gross motor skills, memory, judgment, and
information processing

Sometimes females with triple X syndrome have these signs and symptoms:

● Vertical folds of skin that cover the inner corners of the eyes (epicanthal
folds)
● Widely spaced eyes
● Curved pinky fingers
● Flat feet
● Breastbone with an inward bowed shape
● Weak muscle tone (hypotonia)
● Seizures
● Problems with the kidneys
● Ovaries that don't work properly at a young age (premature ovarian failure)

ASSESSMENT
● Physical assessment for four months of age to evaluate muscle tone and
strength for language and speech assessment
 ● Physical assessment for 12 months of age, to evaluate expressive and receptive
language development, as well as identify any speech delay
● Pre-reading assessment during preschool years prior to first grade to look for
early signs of reading dysfunction.
● Behavioral assessment by third grade to address any issues with anxiety and/or
ADHD
● Neurodevelopmental evaluation is recommended to help assess additional
developmental issues, learning disabilities, and social and emotional problems.
● Infants and children with trisomy X should also receive kidney and heart
evaluations to detect potential abnormalities associated with the disorder.

DIAGNOSTICS
Occasionally, triple X syndrome is suspected before the infant is born through
prenatal testing. Even in these situations, it's crucial to get genetic testing done after the
baby is delivered to determine whether triple X syndrome is present. Female newborns
or children who experience developmental delays may have the condition. A female
with triple X syndrome may also have a distinctive facial appearance.

The pediatrician or other healthcare provider will draw blood for testing if a
genetic test is prescribed. These tests could be:
 ● Karyotype or chromosome microarray: This is used to assess the person for the
presence of an extra X chromosome and to determine the degree of mosaicism
(if any).
● Prenatal genetic testing: Pregnant women who are at higher risk for having a
child with triple X syndrome — mothers of advanced maternal age or women with
triple X syndrome themselves — may be advised to undergo prenatal genetic
testing, such as non-invasive prenatal testing (NIPT), amniocentesis or chorionic
villi sampling (CVS).

It is quite common for girls and women to remain undiagnosed, especially if they
do not exhibit medical or developmental issues. Sometimes women discover that they
have triple X syndrome if they have difficulty becoming pregnant. Some women may
also experience premature ovarian failure, leading to early menopause.

SHORT PATHOPHYSIOLOGY

The trisomy X or triple X syndrome is a problem in the genetic makeup of an

individual in which there is an extra X chromosome in the sex chromosome of a person.
Even though this is genetic, Trisomy X is not inherited because the nature of this
genetic error is random. There are studies that state that maternal age plays a role in
acquiring Trisomy X and one study shows that the average age of mothers that has a
baby with triple X syndrome is 33 (Otter, 2009). On the other hand, nondisjunction is
when the cells do not distribute the chromosomes evenly during division. This results in
one of the cells having two copies of chromosomes. This happens either in the mother’s
egg cell or the father’s sperm cell but in most children, the additional X chromosome
comes from the mother. The last possible cause of Trisomy X is Mosaic in which a
problem occurs while the embryo is developing in which only a percentage of the cell
has three X chromosomes while some have a normal genetic makeup.

NURSING CARE and NURSING CONSIDERATIONS

● Advise and recommend affected individuals and their families for Genetic
counseling and early intervention services recommended for infants and children
diagnosed with trisomy X.
● Physical assessment by performing a thorough, systemic, head-to-toe
assessment of the newborn.
● Obtain a history of the mother's pregnancy, birth history, and genetic testing.
● Educate the parents about Trisomy X or Triple X syndrome and the care of a
child with the disease
● Educate the parents that Trisomy X patients are prone to anxiety, as well as
behavioral and emotional problems and how it requires a supportive
environment.
● Advise the parent to give assistance and support if the patient has problems in
daily functioning.

NURSING CARE and NURSING CONSIDERATIONS in

Amniocentesis or chorionic villi sampling (CVS)
- Instruct the woman to void, and then place her in a supine position.
- Monitor Fetal heart rate and uterine contraction and blood pressure
- Apply Antiseptic solution into the abdomen and inject local anesthetic.
- Inform the mother that she might feel pressure as the needle is introduced
- Advise the mother not to take a deep breath and hold it in.

Karyotyping/Microarray Test or Chromosomal Microarray Analysis (CMA)

● Educate the parents that the test does not show the structural changes in the
chromosome but more of identifying whether the baby has an extra chromosome
or a missing chromosome.
● Advise the parents that it takes 4 weeks to get the test results.
 ● Advise the parents to consult a genetic counselor before making decisions about
a Karyotype test

LIFETIME CARE

Treatment for individuals with trisomy x syndrome will depend on their symptoms.
This syndrome has no cure, but some screening tests will help to identify any
complications caused by trisomy x syndrome. The following are the required tests for
this syndrome:
- Renal Ultrasound, is used to look at the kidney's structure.
- Cardiology consultation or EKG/ echocardiogram, is used to evaluate the heart.
- Neurology consultation, used to check if staring spells and atypical movements
occur.
- Neuropsychological testing.
- Different types of therapists like physical therapy, occupational therapy, and
speech therapy will help to address the needs of the individuals with trisomy x
syndrome.
- Referral to a fertility specialist for counseling and later for family planning
● women with triple x syndrome who are trying to get pregnant should also
have advice from a genetic counselor.
● women with triple x syndrome that has premature ovarian failure should
have treatment with estrogen.

Pedia individuals with trisomy x syndrome should have a pediatrician to monitor

their growth and developmental progress. If the client is too tall for her height, a
pediatric endocrinologist should have an evaluation.
Early Diagnosis and intervention will help the individual to face their
developmental delays in language and motor skills. Psychological therapy and
counseling will help them to adapt to their social adjustment and stress.