1. Down syndrome is caused by trisomy 21 and is characterized by intellectual disability and distinctive physical features. It is the most common genetic chromosomal disorder. 2. Turner syndrome is caused by a missing or partial X chromosome and affects growth and sexual development in females, causing short stature and infertility. 3. Klinefelter syndrome is the most common sex chromosome disorder in males, caused by at least one extra X chromosome, and is associated with infertility and less developed secondary sex characteristics.

1. Chapter 51: Nursing Care of the Child
With a Genetic Disorder

2. Inheritance
• Genes are individual units of heredity of all traits
and
are organized into long segments of
deoxyribonucleic acid (DNA) that occupy specific
locations on chromosomes and determine
particular characteristics
in an organism
• Genes determine the physical and mental
characteristics of humans
• A chromosome is a long, continuous strand of
DNA that carries genetic information

3. Pedigree: a diagram showing links between
family members and medical information

4. Nurse’s Role and Responsibilities
• Pediatric nurses will encounter children with genetic
disorders in every clinical specialty area, including
clinics, hospitals, schools, and community-based
centers
• Talking with families who have recently been
diagnosed with a genetic disorder or who have had a
child born with congenital anomalies is very difficult
• Many times the nurse may be the one who has first
contact with these parents and will be the one to
provide follow-up care

5. Common Medical Treatments
• A variety of medications as well as other
medical treatments are used to treat the
symptoms of genetic disorders in children
• Genetic disorders do not have specific
treatments and there is no cure
• Treatment will focus on the specific symptoms
of each disorder

6. Nursing Process Overview for the Child with a
Genetic Disorder
• Assessment
– Health history
– Physical examination
• Inspection and observation
• Auscultation
• Palpation
– Laboratory and diagnostic testing
• Nursing diagnoses, goals, interventions, and
evaluations

7. Common Chromosomal
Abnormalities

8. Down Syndrome
• AKA trisomy 21:
– Extra chromosome 21 in 92%-95%
– Translocation of chromosome 21 in 3%-
6%
– Mosaicism in 1%-3%
• Syndrome:A recognized pattern of
malformations with a single, specific
anatomic, physiologic, or biochemical
cause

9. Chromosome Mapping showing
Trisomy 21

10. Down Syndrome (cont’d)
• Etiology unknown, likely multiple causes
• Most common chromosomal abnormality:
– 1 in 800-1000 live births
• Maternal age:
– Age 30: incidence ~1 in 950
– Age 40: incidence ~1 in 110
– In about 5% of cases extra chromosome is from father
– 80% of Down syndrome infants have mothers <35
years old
• Most common genetic cause of intellectual
disability

11. Manifestations of Down Syndrome
• Head, face, eyes
– Rounded and small skull
– Inner epicanthal folds, speckling on Iris (Brushfield
spots)
– Small nose, depressed nasal bridge
– Small ears, short pinna, conductive hearing loss
– Protruding tongue, delayed teeth eruption (small
and mal-aligned, prone to dental caries)
• Chest, neck,
– Short, broad neck with excess skin
– Shortened rib cage, 12th rib anomalies
– Congenital heart defect

12. Manifestations of Down Syndrome(cont.)
• Abdomen,Genitalia, skin
– Protruding, lax, flabby abdomen
– Prone to umbilical hernias
– Males: small penis, cryptorchidism
undescended testicle(s)
– Females: bulbous vulva
• Hands, feet
– Broad, short hands and stubby fingers
– Incurved little finger and transverse palmar
crease
– Broad, short feet and stubby toes, wide space
between big and 2nd toes
– Plantar crease

13. Child with Down Syndrome
FIG. 19-6 Down syndrome in an infant. Note small, square head
with upward slant to eyes, flat nasal bridge, protruding tongue,
mottled skin, and hypotonia.

15. Down Syndrome
Congenital Anomalies
• 40%-45% heart defects
• Renal: hypoplasia, glomerular malformation,
simple cysts, obstructive uropathy
• Hirschsprung: Hirschsprung's disease is a condition that
affects the large intestine (colon) and causes problems with
passing stool.
• Tracheoesophageal fistula
• Altered immune function: early senescence
(aging)
• Skeletal defects:
– Atlantoaxial instability:instability of first and second
cervical vertebrae; concern with sports activities; stress on
head and neck from spinal cord compression

16. Diagrams of Congenital
Defects
• Tracheoesophageal fistula
• Septal defects: atrial and
ventricular

17. Meet Lilya

18. Other Complications of Down Syndrome
• Leukemia. Young children with Down syndrome are more likely to
develop leukemia than are other children.
• Infectious diseases. Because of abnormalities in their immune systems,
those with Down syndrome are much more susceptible to infectious
diseases, such as pneumonia.
• Dementia. Later in life, people with Down syndrome have a greatly
increased risk of dementia. Signs and symptoms of dementia often
appear before age 40 in people with Down syndrome.
• Sleep apnea. Because of soft tissue and skeletal alterations that lead to
the obstruction of their airways, children with Down syndrome are at
greater risk of obstructive sleep apnea.
• Obesity. People with Down syndrome have a greater tendency to be
obese than does the general population.
• Other problems. Down syndrome may also be associated with other
health conditions, including gastrointestinal blockage, thyroid
problems, hearing loss, skeletal problems and poor vision.

19. Life expectancy
•
Life spans have increased dramatically for people with Down
syndrome.
– In 1929, a baby born with Down syndrome often didn't live to age 10.
– Today, someone with Down syndrome can expect to live to 50 and
beyond, depending on the severity of his or her health problems. Life
span continues to increase because of early interventions and better
care.
• http://www.mayoclinic.com/health/down-
syndrome/DS00182/DSECTION=complications

21. Common Chromosomal Abnormalities
Trisomy 18 (Edwards syndrome)
– 3 number 18 chromosomes
– Occurs 1:6,000 births
Trisomy 13
– 3 number 13 chromosomes
– Occurs 1: 10,000 births
• Both produce several anomolies and mental retardation
• Prognosis is poor; usually don’t survive past 1 year
• No cure
• May be diagnoses during prenatal period or shortly after birth
• Nursing Management:
– Supportive to family
– Keep child comfortable
– Provide resources
• SOFT a support organization for families with children who have
chromosomal abnormalities
– http://www.trisomy.org/

22. • Trisomy 18 • Trisomy
13

23. Turner’s syndrome
• Abnormality of the sex chromosome, have only one X
chromosome or abnormality of one sex chromosomes
(XO)
• Occurs 1: 4,000 live female births
• A sporadic event so doesn’t affect future pregnancies
• Abnormality is not inherited from an affected parent (not
passed down from parent to child) because women with
Turner syndrome are usually sterile and cannot have
children.
• No cure
• Therapeutic management focuses on health issues with
syndrome

24. What are the symptoms of Turner
syndrome?
• Turner syndrome affects growth and sexual
development.
– Girls with this disorder are shorter than normal,
and may fail to start puberty when they should.
This is because the ovaries (which produce eggs, as
well as the sex hormones estrogen and
progesterone) fail to develop properly.
• Women with Turner syndrome appear to have
– a stocky appearance,
– arms that turn out slightly at the elbow,
– a receding lower jaw,
– a short webbed neck,
– and low hairline at the back of the neck.
• Other medical symptoms include:
– lymphedema (swelling of hands and feet),
– heart and/or kidney defects,
– high blood pressure, and
– infertility (inability to have children).

25. Characteristics of Turner
Syndrome • Webbed neck
• Low posterior
hairline,
• Wide-spaced
nipples,
• Edema of hands
and feet,
• Amenorrhea
• No secondary sex
characteristics
• Sterility
• Perceptual and
social skill
difficulties

26. How do doctors diagnose Turner
syndrome?
• About half of the cases are diagnosed within the first few
months of a girl's life by the characteristic physical symptoms
(swelling of the hands and feet, or a heart defect). Other
patients are diagnosed in adolescence because they fail to
grow normally or go through puberty.
• When the doctor suspects Turner syndrome, a blood sample
can be used to make a karyotype (a chromosome analysis) and
the diagnosis can be confirmed.
• Turner syndrome may be diagnosed during pregnancy with a
chorionic villus sampling (CVS) or amniocentesis. Alternatively,
an ultrasound (a machine that uses sound waves to look inside
a mother's uterus) can identify the disorder by its physical
symptoms before the baby is born.

27. How is Turner syndrome treated?
• Hormone replacement therapy is the best way to treat this
disorder.
• Teenagers are treated with growth hormone to help them
reach a normal height.
• They may also be given low doses of androgens (male
hormones which females also produce in small quantities) to
increase height and encourage normal hair and muscle
growth.
• Some patients may take the female hormone estrogen to
promote normal sexual development.

28. Common Chromosomal Abnormalities Klinefelter’s
syndrome (XXY)
• Most common sex chromosome abnormality
• Phenotype male but one or more X chromosomes are present
• Incidence 1:1,000 males
• Nursing assessment
– Males have some female-like features due to testosterone deficiency
• Nursing management
– Supportive, provide education, resources and support
– Counseling about infertility, marriage and relationships
– Ideally, XXY males should begin testosterone treatment as they enter
puberty. XXY males diagnosed in adulthood are also likely to benefit
from the hormone. A regular schedule of testosterone injections will
increase strength and muscle size, and promote the growth of facial and
body hair.

29. Characteristics of Klinefelter syndrome

30. Fragile X Syndrome: X-linked Dominance
with Reduced Penetrance
• Second most common genetic cause of
cognitive impairment after Down syndrome
• Differs from X-linked recessive pattern
• Abnormal gene on the lower end of the long
arm of the X chromosome
• More common in males; appears sometimes
in females

31. Classic Physical Appearance
of Fragile X Syndrome
• Large head circumference,
long face, prognathism
(promanent jaw), large ears,
strabismus
• Mitral valve prolapse
• Hypotonia
• Macroorchidism (large testes)

32. Classic Physical Appearance
of Fragile X Syndrome (cont’d)
• Palate—high arched
• Hyperextensible finger
joints, palmar crease
• Flat feet

33. Classic Behavioral Features
of Fragile X Syndrome
• May have normal IQ with learning difficulties
or Mild to severe cognitive impairment
• Delayed speech and language
• Hyperactivity
• Hypersensitivity
• Autistic-like behaviors
• Intolerance to change in routine

34. Therapeutic Management
of Fragile X Syndrome
• Serotonin agents—behavioral control
• Stimulants for hyperactivity (similar to ADHD
management)
• Protein replacement and gene therapy options being
investigated
• Referral to early intervention program
• Prognosis: expected to live normal life span

35. Nursing Management of Child with Impaired
Cognitive Function
• Nursing Diagnoses:
– Delayed Growth and Development r/t impaired cognitive
functioning
– Interrupted Family processes r/t having a child with
cognitive impairment
• Outcomes:
– Child will achieve optimum:
• Growth and development potential
• Socialization
– Family will:
• Receive adequate information and support
• Be prepared for long-term care of the child

36. Nursing Interventions
• Perform a physical and developmental
assessment
• Assist with and explain diagnostic tests
• Educate child and family
– Managing stimulation
– Providing simple, one-step instructions
– Motivation and positive reinforcement
– Early intervention programs available in area

37. Nursing Interventions (cont.)
• Teach child self-care skills
• Promote child’s optimal development
• Encourage play and exercise
• Provide means of communication
• Establish discipline
• Encourage socialization
– Inclusion
– Camps
– Special Olympics

38. Nursing Interventions (cont.)
• Provide information on Sexuality
• Help family adjust to future care needs
– At home
– Day care
– Long-term care
• Teach Prevention to families/parents
– Reduce risk factors: smoking, drugs, alcohol
– Prenatal care
– Early screening

39. Care During Hospitalization
• Mutual participation model: working
WITH parents to share child’s care
• Obtain a thorough assessment
– Self-care abilities
– Special devises needed: braces,
equipment, etc.
– Routines, unusual behaviors
– Nutrition and eating, elimination
– Play, special toys and activities

40. Care During Hospitalization
• Explain procedures and
treatments at child’s
cognitive level
• Work in partnership
with parents
• Opportunity to learn
and grow in areas of
self-care and
socialization

41. Other Genetic Disorders
• Many genetic disorders occur in children and
have lifelong effects
• Thousands of genetic disorders are currently
known and new ones are being discovered
• The majority of these disorders are quite rare
• Newborn screenings helps to identify these
problems early so treatment may begin
immediately

42. End of Presentation