Download The Newborn at Risk: Congenital Disorders Chapter 21

THE NEWBORN AT RISK: CONGENITAL
DISORDERS
CHAPTER 21
OBJECTIVES
1. Differentiate the three types of spina bifida.
2. Discuss the two types of hydrocephalus, including the symptoms, treatment, and nursing
care.
3. Describe five common types of congenital heart defects, tracing the blood flow in each
defect and discussing the treatment and nursing care.
4. Differentiate between cleft lip and cleft palate, including treatment and nursing care.
5. Discuss esophageal atresia and tracheoesophageal fistula.
6. Explain what occurs when an infant has an imperforate anus.
7. List and describe the five types of hernias that newborns may have.
8. Describe hypospadias, epispadias, exstrophy of the bladder, and ambiguous genitalia.
9. Discuss congenital talipes equinovarus.
10. Explain congenital dislocation of the hip, including signs and symptoms, treatment, and
nursing care.
11. Compare phenylketonuria, congenital hypothyroidism, galactosemia, and maple syrup
urine disease.
12. Discuss Down syndrome including common characteristics, treatment, and nursing care.
13. Differentiate Turner and Klinefelter syndromes.
THE NEWBORN AT RISK: CONGENITAL DISORDERS
Problems that occur during fetal development
and are present in the infant at birth
Include malformations or congenital anomalies
Inborn errors of metabolism
A crisis for parents and caregivers
Family caregivers experience a grief response
Siblings should be allowed to visit
CONGENITAL MALFORMATIONS
May be caused by genetic or environmental
factors
Anomalies include
Defects of the central nervous system
Cardiovascular
Gastrointestinal
Genitourinary
Skeletal systems
CENTRAL NERVOUS SYSTEM DEFECTS
Spina bifida
Generally in the lumbosacral region
Spina bifida is a failure of the posterior laminae of the
vertebrae to close
Clinical manifestations
Spina bifida occulta
Spina bifida with meningocele
Spina bifida with myelomeningocele
CENTRAL NERVOUS SYSTEM DEFECTS (CONT.)
Spina bifida (cont.)
Diagnosis
Elevated maternal alpha-fetoprotein (AFP) levels
Ultrasonographic examination of the fetus
Best time to perform these tests is between 13 and
15 weeks’ gestation, when peak levels are reached
May include magnetic resonance imaging (MRI),
ultrasonography, computed tomography (CT), and
myelography
CENTRAL NERVOUS SYSTEM DEFECTS (CONT.)
Spina bifida (cont.)
Treatment
Specialists may include neurologists,
neurosurgeons, orthopedic specialists,
pediatricians, urologists, and physical
therapists
Highly skilled nursing care is necessary in all
aspects of the newborn’s care
Surgery is required to close the open defect
NURSING PROCESS FOR THE NEWBORN WITH
MYELOMENINGOCELE
Assessment
Selected nursing diagnoses
Outcome identification and planning: preoperative care
Implementation
Preventing infection
Promoting skin integrity
NURSING PROCESS FOR THE NEWBORN WITH
MYELOMENINGOCELE (CONT.)
Implementation (cont.)
Preventing contractures of lower extremities
Promoting family coping
Providing family teaching
Evaluation: goals and expected outcomes
QUESTION
What is one of the major nursing interventions
with a newborn who has a myelomeningocele?
a. Family teaching
b. Preventing hydrocephalus
c. Preventing contractures of the upper
extremities
d. Family interactions
ANSWER
a. Family teaching
Rationale: Give family members information about the
defect and encourage them to discuss their concerns
and ask questions. Provide information about the
newborn’s present state, the proposed surgery, and
follow-up care. Remember that anxiety may block
understanding and processing knowledge, so
information may need to be repeated. Provide
information in small segments to facilitate learning.
CENTRAL NERVOUS SYSTEM DEFECTS (CONT.)
Hydrocephalus
Characterized by an excess of cerebrospinal fluid (CSF)
within the ventricular and subarachnoid spaces of the
cranial cavity
Cerebrospinal fluid is formed mainly in the lateral
ventricles
An obstruction occurs and CSF is not able to pass
between the ventricles and the spinal cord
Causes increased pressure on the brain or spinal
cord
CENTRAL NERVOUS SYSTEM DEFECTS (CONT.)
Hydrocephalus (cont.)
Communicating type of hydrocephalus
No obstruction
Caused by defective absorption of CSF
Increases pressure on the brain or spinal cord
May or may not be recognized at birth
Occurs before sutures close
Manifested by a rapid increase in head circumference.
CENTRAL NERVOUS SYSTEM DEFECTS (CONT.)
Hydrocephalus (cont.)
Clinical Manifestations
Excessively large head at birth
Rapid head growth with widening cranial sutures
Anterior fontanelle becomes tense and bulging
Unless hydrocephalus is arrested
‒Newborn becomes increasingly helpless
‒Symptoms of increased intracranial pressure (IICP)
develop
CENTRAL NERVOUS SYSTEM DEFECTS (CONT.)
Hydrocephalus (cont.)
Diagnosis
Made with CT and MRI
Echoencephalography and ventriculography
Treatment
Surgical intervention
Most children require placement of a shunting
device
CENTRAL NERVOUS SYSTEM DEFECTS (CONT.)
Treatment
Ventriculoperitoneal shunting
Ventriculoatrial shunting
All types of shunts may have problems
Long-term outcome depends on several factors
NURSING PROCESS FOR THE POSTOPERATIVE
NEWBORN WITH HYDROCEPHALUS
Assessment
Selected nursing diagnoses
Outcome identification and planning
Implementation
Preventing injury
Promoting skin integrity
Preventing infection
NURSING PROCESS FOR THE POSTOPERATIVE
NEWBORN WITH HYDROCEPHALUS
Implementation (cont.)
Promoting growth and development
Reducing family anxiety
Providing family teaching
Evaluation: goals and expected outcomes
CARDIOVASCULAR SYSTEM DEFECTS: CONGENITAL
HEART DISEASE
Defects range from mild to severe
May or may not be detected immediately at birth
Technological advances have progressed rapidly in this
field
CARDIOVASCULAR SYSTEM DEFECTS: CONGENITAL
HEART DISEASE
Development of the heart
Fetal circulation is unique
Fetal lungs are inactive
Ductus arteriosus
Foramen ovale
Ductus venosus
CARDIOVASCULAR SYSTEM DEFECTS: CONGENITAL
HEART DISEASE
Development of the heart
Some abnormalities are slight
Others cause little apparent difficulty
Severe anomalies are incompatible with life
Common types of congenital heart defects
Cyanotic or acyanotic conditions
Cyanotic heart
Peripheral arterial blood of 85% or less
CARDIOVASCULAR SYSTEM DEFECTS: CONGENITAL
HEART DISEASE
Common types of congenital heart defects (cont.)
Cyanotic heart
(right-to-left shunting)
More clear-cut classification system is based on blood
flow characteristics
Increased pulmonary blood flow
Obstruction of blood flow out of the heart
Decreased pulmonary blood flow
Mixed blood flow
CARDIOVASCULAR SYSTEM DEFECTS: CONGENITAL
HEART DISEASE
Common types of congenital heart defects (cont.)
Ventricular septal defect
Most common intracardiac defect
An abnormal opening in the septum between the two
ventricles
Cyanosis does not occur
Pulmonary hypertension
Corrective surgery may be postponed until the age of
18 months to 2 years
CARDIOVASCULAR SYSTEM DEFECTS: CONGENITAL
HEART DISEASE
Common types of congenital heart defects
(cont.)
Atrial septal defects
An abnormal opening between the right and
left atria
Left-to-right shunting
May occur as isolated defects or in
combination with other heart anomalies
Amenable to surgery
CARDIOVASCULAR SYSTEM DEFECTS: CONGENITAL
HEART DISEASE
Common types of congenital heart defects (cont.)
Patent ductus arteriosus
Vascular channel between the left main pulmonary
artery and the descending aorta
Allows blood to bypass the nonfunctioning lungs
After birth the duct normally closes
Symptoms of patent ductus arteriosus are often
absent during childhood
CARDIOVASCULAR SYSTEM DEFECTS: CONGENITAL
HEART DISEASE
Common types of congenital heart defects (cont.)
Patent ductus arteriosus
Machinery-like murmur
A wide pulse pressure
A bounding pulse
Indomethacin (Indocin)
CARDIOVASCULAR SYSTEM DEFECTS: CONGENITAL
HEART DISEASE
Common types of congenital heart defects
(cont.)
Coarctation of the aorta
Constriction or narrowing of the aortic arch or
the descending aorta usually adjacent to the
ligamentum arteriosum
Obstructs blood flow through the aorta
No symptoms until later childhood or young
adulthood
CARDIOVASCULAR SYSTEM DEFECTS: CONGENITAL
HEART DISEASE
Common types of congenital heart defects
(cont.)
Coarctation of the aorta
Rib notching
Congestive heart failure
Hypertension in the upper extremities and
hypotension in the lower extremities
Radial pulse is readily palpable, but the
femoral pulses are weak or even impalpable
CARDIOVASCULAR SYSTEM DEFECTS: CONGENITAL
HEART DISEASE
Common types of congenital heart defects (cont.)
Coarctation of the aorta
Uncorrected coarctation may cause hypertension and
cardiac failure later in life
Surgery
Tetralogy of Fallot
Fairly common congenital heart defect
Pulmonary stenosis
Overriding aorta
Right ventricular hypertrophy
CARDIOVASCULAR SYSTEM DEFECTS: CONGENITAL
HEART DISEASE
Common types of congenital heart defects
(cont.)
Tetralogy of Fallot (cont.)
Most common defect causing cyanosis
May be precyanotic in early infancy
Severity of symptoms depends on the degree
of pulmonary stenosis
Dyspnea and easy fatigability become evident
Paroxysmal dyspnea
CARDIOVASCULAR SYSTEM DEFECTS: CONGENITAL
HEART DISEASE
Common types of congenital heart defects
(cont.)
Tetralogy of Fallot (cont.)
“Tet spells”
History and clinical manifestations are usually
sufficient to make a diagnosis
Surgical correction
Blalock-Taussig procedure
CARDIOVASCULAR SYSTEM DEFECTS: CONGENITAL
HEART DISEASE
Common types of congenital heart defects (cont.)
Transposition of the great arteries
Usually cyanotic from birth
Risk factors
Maternal alcoholism
Maternal irradiation
Ingestion of certain drugs during pregnancy
Maternal diabetes
Advanced maternal age (older than 40 years)
CARDIOVASCULAR SYSTEM DEFECTS: CONGENITAL
HEART DISEASE
Clinical manifestations
Newborn with a severe cardiovascular
abnormality is cyanotic from birth
Less seriously affected child may not have
symptoms severe enough to call attention to
the difficulty
Cardiac murmur
Manifestations of CHF may appear during the
first year of life
CARDIOVASCULAR SYSTEM DEFECTS: CONGENITAL
HEART DISEASE
Treatment and nursing care
Advances in medical technology
Operate as early as possible
An early diagnosis and correction or repair is
possible, CHF may be avoided
If child has CHF, it is important that the CHF be
treated
CARDIOVASCULAR SYSTEM DEFECTS: CONGENITAL
HEART DISEASE
Treatment and nursing care (cont.)
Care at home before surgery
Allowed to lead as normal a life as possible
Routine visits to a clinic or a physician’s office
become a way of life
CARDIOVASCULAR SYSTEM DEFECTS: CONGENITAL
HEART DISEASE
Cardiac catheterization
May be performed before heart surgery
Carefully monitor the site used and check the
extremity for pulses, edema, skin temperature and
color, and any other signs of poor circulation or
infection
Pressure dressing is used over the catheterization
site
CARDIOVASCULAR SYSTEM DEFECTS: CONGENITAL
HEART DISEASE
Treatment and nursing care (cont.)
Preoperative preparation
Child may be admitted a few days before
surgery
Equipment to be used after surgery should be
described with drawings and pictures
Family caregivers and the child should have
the opportunity to visit a cardiac recovery
room and see chest tubes and an oxygen tent
CARDIOVASCULAR SYSTEM DEFECTS: CONGENITAL
HEART DISEASE
Cardiac surgery
Open-heart surgery using the heart–lung
machine
Hypothermia
Provides a dry, bloodless, motionless field for
the surgeon
Postoperative care
Pediatric intensive care unit
Child needs encouragement and reassurance
QUESTION
What is the most common cardiac defect
causing cyanosis?
a. Coarctation of the aorta
b. Transposition of the great vessels
c. Patent ductous arteriosis
d. Tetralogy of Fallot
ANSWER
d. Tetralogy of Fallot
Rationale: Tetralogy of Fallot is a fairly common
congenital heart defect involved in 50% to
70% of all cyanotic congenital heart diseases.
GASTROINTESTINAL SYSTEM DEFECTS
Cleft lip and cleft palate
Most common facial malformations
Appear to be influenced genetically
Either defect may appear alone
Defects result from failure of the primary and
secondary palates to fuse
GASTROINTESTINAL SYSTEM DEFECTS (CONT.)
Clinical manifestations
Cleft lip may be a simple notch in the vermilion
line, or it may extend up into the floor of the
nose
May be either unilateral (one side of the lip) or
bilateral
Cleft palate may be a small opening or it may
involve the entire palate
Cleft palate occurs with a cleft lip about 50% of
the time, most often with bilateral cleft lip
GASTROINTESTINAL SYSTEM DEFECTS (CONT.)
Clinical manifestations (cont.)
Child born with a cleft palate but with an intact
lip
Does not have the external disfigurement
Problems are more serious
Often accompanied by nasal deformity and
dental disorders
GASTROINTESTINAL SYSTEM DEFECTS (CONT.)
Diagnosis
Physical appearance of the newborn confirms the
diagnosis
Treatment
Surgery
Total care involves many specialists
Plastic surgeon, pediatricians, nurses, orthodontists,
prosthodontists, otolaryngologists, speech therapists,
and, occasionally, psychiatrists
Long-term, intensive, multidisciplinary care
GASTROINTESTINAL SYSTEM DEFECTS (CONT.)
Treatment (cont.)
Must be observed constantly
Higher than normal risk of aspiration
Goal of repairing the cleft palate
Optimal time for surgical repair of the cleft palate
QUESTION
Tell whether the following statement is true or
false.
The optimal time for repairing a cleft palate is
between 6 months and 5 years of age.
ANSWER
True
Rationale: The optimal time for surgical repair of
the cleft palate is considered to be between 6
months and 5 years of age.
NURSING PROCESS FOR THE NEWBORN WITH CLEFT
LIP AND CLEFT PALATE
Assessment
Selected nursing diagnoses
Outcome identification and planning: preoperative care
Implementation
Maintaining adequate nutrition
Promoting family coping
Reducing family anxiety
Providing family teaching
NURSING PROCESS FOR THE NEWBORN WITH CLEFT
LIP AND CLEFT PALATE (CONT.)
Outcome identification and planning: postoperative
care
Implementation
Preventing aspiration and improving respiration
Monitoring fluid volume
Maintaining adequate nutrition
Relieving pain
Preventing postoperative injury
NURSING PROCESS FOR THE NEWBORN WITH CLEFT
LIP AND CLEFT PALATE (CONT.)
Implementation (cont.)
Preventing infection
Care of lip suture line
Promoting sensory stimulation
Providing family teaching
Evaluation: goals and expected outcomes
Preoperative
Postoperative
GASTROINTESTINAL SYSTEM DEFECTS (CONT.)
Esophageal atresia and tracheoesophageal fistula
Atresia is the absence of a normal body opening or the
abnormal closure of a body passage
Esophageal atresia (EA) with or without fistula into the
trachea is a serious congenital anomaly
Among the most common anomalies causing
respiratory distress
End of the esophagus ends in a blind pouch, and the
lower, or distal, segment from the stomach is
connected to the trachea by a fistulous tract. This is
referred to as a tracheoesophageal fistula (TEF)
GASTROINTESTINAL SYSTEM DEFECTS (CONT.)
Esophageal atresia and tracheoesophageal fistula
(cont.)
Clinical manifestations
Frothing, excessive drooling, and periods of
respiratory distress with choking and cyanosis
No feeding should take place until the newborn has
been examined
If feeding is attempted, the newborn chokes, coughs,
and regurgitates as the food enters the blind pouch
Newborn becomes deeply cyanotic and appears to be
in severe respiratory distress
GASTROINTESTINAL SYSTEM DEFECTS (CONT.)
Treatment and nursing care
Surgical intervention is necessary to correct the defect
Intravenous fluids to maintain optimal hydration
Often these defects occur in premature newborns
Regular follow-up is necessary to observe for and dilate
esophageal strictures that may be caused by scar
tissue
GASTROINTESTINAL SYSTEM DEFECTS (CONT.)
Imperforate anus
The rectal pouch ends blindly at a distance above the
anus; there is no anal orifice
Clinical manifestations
Apparent that there is no anal opening
Sometimes a shallow opening may occur in the anus
‒Rectum ending in a blind pouch some distance
higher
GASTROINTESTINAL SYSTEM DEFECTS (CONT.)
Clinical manifestations (cont.)
Watching carefully for the first meconium stool
Abdominal distention also occurs
Definitive diagnosis is made by radiographic studies
Treatment
For a high defect, abdominoperineal resection is
indicated
A colostomy is performed, and extensive
abdominoperineal resection is delayed until 3 to 5
months of age or later
GASTROINTESTINAL SYSTEM DEFECTS (CONT.)
Imperforate Anus (cont.)
Nursing care
Teach caregivers
‒Keep the area around the colostomy clean
‒Diaper the baby in the usual way
‒Protective ointment is useful to protect the
skin around the colostomy
GASTROINTESTINAL SYSTEM DEFECTS (CONT.)
Hernias
Abnormal protrusion of a part of an organ
through a weak spot or other abnormal opening
in a body wall
Complications occur
Amount of circulatory impairment involved
How much the herniated organ impairs the
functioning of another organ
GASTROINTESTINAL SYSTEM DEFECTS (CONT.)
Hernias (cont.)
Diaphragmatic hernia
Some of the abdominal organs are displaced into the
left chest through an opening in the diaphragm
Heart is pushed toward the right, and the left lung is
compressed
Rapid, labored respirations and cyanosis
Breathing becomes increasingly difficult
Surgery is essential
GASTROINTESTINAL SYSTEM DEFECTS (CONT.)
Hernias (cont.)
Hiatal hernia
More common in adults than in newborns
Cardiac portion of the stomach slides through the
normal esophageal hiatus into the area above the
diaphragm
Reflux of gastric contents into the esophagus and
subsequent regurgitation
Surgery may be necessary
GASTROINTESTINAL SYSTEM DEFECTS (CONT.)
Hernias (cont.)
Omphalocele
Some of the abdominal contents protrude through
into the root of the umbilical cord and form a sac
lying on the abdomen
The sac is covered with peritoneal membrane instead
of skin
At birth, the defect should be covered immediately
with gauze moistened in sterile saline, which then
may be covered with plastic wrap to prevent heat loss
GASTROINTESTINAL SYSTEM DEFECTS (CONT.)
Hernias (cont.)
Omphalocele (cont.)
Surgical replacement of the organs into the
abdomen may be difficult
Other congenital defects often are present
Surgery may be postponed and the surgeon
will suture skin over the defect, creating a
large hernia
GASTROINTESTINAL SYSTEM DEFECTS (CONT.)
Hernias (cont.)
Umbilical hernia
Ring that encircled the fetal end of the
umbilical cord closes gradually
When this closure is incomplete, portions of
omentum and intestine protrude through the
opening
Largely a cosmetic problem
GASTROINTESTINAL SYSTEM DEFECTS (CONT.)
Hernias (cont.)
Inguinal hernia
Occurs when the small sac of peritoneum
surrounding the testes fails to close off after
the testes descend from the abdominal sac
into the scrotum
Intestine becomes trapped (incarcerated)
Circulation to the trapped intestine is
impaired (strangulated)
QUESTION
When an infant is born with an omphalocele, what
nursing care is done right away?
a. Contents replaced in abdominal cavity
b. Covered with gauze moistened in sterile saline
c. Plastic wrap is placed directly over defect to
conserve heat
d. Infant swaddled in blankets so mother can hold
him or her
ANSWER
b. Covered with gauze moistened in sterile saline
Rationale: At birth, the defect should be covered
immediately with gauze moistened in sterile
saline, which then may be covered with plastic
wrap to prevent heat loss.
GENITOURINARY TRACT DEFECTS
Hypospadias and epispadias
Hypospadias is a congenital condition affecting
males in which the urethra terminates on the
ventral (underside) surface of the penis
Chordee extends from the scrotum to the penis
Boy cannot void while standing in the normal
male fashion
Surgical repair is desirable between the ages of
6 and 18 months
GENITOURINARY TRACT DEFECTS (CONT.)
Hypospadias and epispadias (cont.)
Epispadias
The opening is on the dorsal (top) surface of
the penis
Often occurs with exstrophy of the bladder
Surgical repair is indicated
GENITOURINARY TRACT DEFECTS (CONT.)
Exstrophy of the bladder
Urinary tract malformation
Usually accompanied by other anomalies
Epispadias, cleft scrotum, cryptorchidism
(undescended testes), a shortened penis, and cleft
clitoris
Associated with malformed pelvic musculature,
resulting in a prolapsed rectum and inguinal hernias
Widely split symphysis pubis and posterolaterally
rotated hip sockets
GENITOURINARY TRACT DEFECTS (CONT.)
Exstrophy of the bladder (cont.)
Anterior surface of the urinary bladder lies open
on the lower abdomen
Exposed mucosa is red and sensitive to touch
Allows direct passage of urine to the outside
Surgical closure of the bladder is preferred
within 48 hours of birth
Final surgical correction
GENITOURINARY TRACT DEFECTS (CONT.)
Exstrophy of the bladder (cont.)
Family caregivers must be taught how to care
for this condition
Sex of the child may be determined only by a
chromosome test
Nursing care should be directed toward
preventing infection, preventing skin irritation
around the seeping mucosa, meeting the
newborn’s need for touch and cuddling, and
educating and supporting the family during this
crisis.
GENITOURINARY TRACT DEFECTS (CONT.)
Ambiguous genitalia
May not be possible to determine by observation if the
child is a male or female
External sexual organs are either incompletely or
abnormally formed
Important to establish the genetic sex and the sex of
rearing as early as possible
Anatomical structure, rather than the genetic sex,
should determine the sex of rearing
GENITOURINARY TRACT DEFECTS (CONT.)
Ambiguous genitalia (cont.)
Possible to construct a functional vagina surgically
Impossible to offer comparable surgical reconstruction
to males with an inadequate penis
Parents need understanding and support
SKELETAL SYSTEM DEFECTS
Some noted at birth, some later in life
May face long periods of exhausting, costly treatment
Parents need continuing support, encouragement, and
education
SKELETAL SYSTEM DEFECTS (CONT.)
Congenital talipes equinovarus
Congenital clubfoot
Cause is unclear
Clinical manifestations
“Position of comfort”
Treatment
Nonsurgical treatment
‒manipulation and bandaging or by application of a
cast
SKELETAL SYSTEM DEFECTS (CONT.)
Treatment (cont.)
Surgical treatment
‒Children who do not respond to nonsurgical
measures, especially older children, need
surgical correction
‒Prolonged observation after correction by
either means should be carried out
SKELETAL SYSTEM DEFECTS (CONT.)
Congenital hip dysplasia
Results from defective development of the
acetabulum with or without dislocation
Head of the femur becoming displaced upward
and backward
Difficult to recognize during early infancy
SKELETAL SYSTEM DEFECTS (CONT.)
Congenital hip dysplasia (cont.)
Clinical manifestations
Early recognition and treatment
Barlow’s sign and Ortolani’s maneuver
Asymmetry of the gluteal skin folds
Limited abduction of the affected hip
Apparent shortening of the femur
SKELETAL SYSTEM DEFECTS (CONT.)
Congenital hip dysplasia (cont.)
Treatment
Correction may be started in the newborn
period
Pavlik harness
Open reduction followed by application of a
spica cast
NURSING PROCESS FOR THE NEWBORN IN AN
ORTHOPEDIC DEVICE OR CAST
Assessment
Selected nursing diagnosis
Outcome identification and planning
Implementation
Providing comfort measures
Promoting skin integrity
Providing sensory stimulation
Providing family teaching
Evaluation: goals and expected outcomes
QUESTION
Ortolani’s maneuver is used to aid in the
diagnosis of what?
a. Talipes equinovarus
b. Pavlik’s disease
c. Congenital hip dysplasia
d. Barlow’s disease
ANSWER
c. Congenital Hip Dysplasia
Rationale: Experienced examiners may detect an
audible click when examining the newborn
using the Barlow’s sign and Ortolani’s
maneuver.
INBORN ERRORS OF METABOLISM
Hereditary disorders that affect metabolism
Nursing care involves accurate observation of
manifestations to aid in prompt diagnosis and
initiation of treatment
Family
Teaching
Support and information
INBORN ERRORS OF METABOLISM (CONT.)
Phenylketonuria
Recessive hereditary defect of metabolism
If untreated, it causes severe mental
retardation in most but not all affected children
Children with this condition lack the enzyme
that normally changes the essential amino acid
phenylalanine into tyrosine
INBORN ERRORS OF METABOLISM (CONT.)
Phenylketonuria (cont.)
Clinical manifestations
Frequent vomiting and aggressive and hyperactive
traits
Diagnosis
Most states require newborns to undergo a blood test
to detect the phenylalanine level
Treatment and nursing Care
Dietary treatment is required
Family and child need support and counseling
INBORN ERRORS OF METABOLISM (CONT.)
Galactosemia
Recessive hereditary metabolic disorder
Clinical manifestations
Early feeding difficulties
Treatment and nursing care
Galactose must be omitted from the diet
Nutramigen and Pregestimil
INBORN ERRORS OF METABOLISM (CONT.)
Congenital hypothyroidism
Congenital absence of a thyroid gland or the
inability of the thyroid gland to secrete thyroid
hormone
Clinical manifestations
Appears normal at birth
Signs and symptoms start to appear at about
6 weeks of life
INBORN ERRORS OF METABOLISM (CONT.)
Congenital hypothyroidism (cont.)
Diagnosis
Most states require a routine test for
triiodothyronine (T3) and thyroxine (T4) levels
Treatment and nursing care
Thyroid hormone must be replaced as soon as
the diagnosis is made
INBORN ERRORS OF METABOLISM (CONT.)
Maple syrup urine disease
Autosomal recessive
Clinical manifestations
Onset of MSUD occurs very early in infancy
Urine has a distinctive odor of maple syrup
Treatment and nursing care
Treatment of MSUD is dietary
Special diet must be continued indefinitely
CHROMOSOMAL ABNORMALITIES
Down syndrome
Most common chromosomal anomaly
Low maternal serum alpha-fetoprotein levels and high
chorionic gonadotropin levels
Clinical manifestations
All forms of the condition show a variety of abnormal
characteristics
Mental status is usually within the moderate to
severe range of retardation, with most children being
moderately retarded
CHROMOSOMAL ABNORMALITIES
Down syndrome (cont.)
Treatment and nursing care
Physical characteristics of the child with Down
syndrome determine the medical and nursing
management
Turner’s syndrome
Characteristics of Turner’s syndrome include short
stature, low-set ears, a broad-based neck that appears
webbed and short, a low-set hairline at the nape of the
neck, a broad chest, an increased angle of the arms,
and edema of the hands and feet.
Normal intelligence
CHROMOSOMAL ABNORMALITIES
Klinefelter’s syndrome
Characteristics are not often evident until puberty,
when the child does not develop secondary sex
characteristics
Often have normal intelligence, but frequently have
behavior problems