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Questions and Answers
What is a key characteristic of noncommunicating hydrocephalus?
In older children with hydrocephalus, what symptom becomes prominent due to fused cranial sutures?
What pathological feature is associated with Arnold-Chiari malformation?
Which condition is characterized by a prominent occiput and atresia of the foramen leading CSF out of the brain?
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What is the primary method used to visualize fluid in the diagnosis of hydrocephalus?
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What is the purpose of performing echoencephalography, CT scanning, or MRI in infants with hydrocephalus?
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Which treatment method is commonly used to relieve symptoms of increased intracranial pressure in hydrocephalus patients?
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What is a critical sign of infection in infants who have undergone surgery for hydrocephalus?
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In the context of hydrocephalus, when should an infant be placed in a semi-Fowler’s position?
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What characteristic is typical of spina bifida occulta?
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Which nursing care intervention is NOT appropriate for a newborn with a cleft lip postoperatively?
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What is the primary goal of surgical intervention for cleft palate?
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Which method is recommended for feeding an infant with a cleft lip?
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Which of the following complications is associated with untreated cleft palate?
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When should surgery for cleft lip typically be performed?
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What is the primary consideration for postoperative care of a child with cleft lip/palate repair?
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Which method is NOT recommended for positioning an infant after cleft lip/palate surgery?
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What is a common complication associated with cleft palate?
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What nursing intervention should be prioritized for a child in cast care?
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Which sign indicates potential developmental hip dysplasia in an infant?
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What is the primary reason for performing surgical closure in individuals with spina bifida?
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Why is habilitation preferred over rehabilitation in the care of children with spina bifida?
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Which nursing care objective is critical for a newborn with spina bifida?
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What are the common diagnostic tests that may be performed to confirm suspected hydrocephalus in a child?
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Which positioning technique should be employed for a newborn with a meningomyelocele before surgical repair?
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What is the purpose of maintaining the hips in constant flexion and abduction for 4-8 weeks?
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Which nursing care practice is essential for infants after cast application?
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What is a common sign of developmental hip dysplasia in a newborn?
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What teaching should a nurse provide regarding the Pavlik harness for parents?
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What position should the head of the patient's bed be during the use of a body cast?
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What is the primary cause of phenylketonuria (PKU)?
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Which of the following is a common manifestation of PKU in infants?
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What dietary management strategy is recommended for infants diagnosed with PKU?
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What is the recommended age for conducting the Guthrie blood test for PKU detection?
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Which enzyme deficiency is most associated with PKU?
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For effective management of PKU, which goal regarding phenylalanine levels should be maintained?
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Which of the following conditions may also represent an inborn error of metabolism, like PKU?
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What common skin condition is associated with severe PKU outcomes in infants?
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What is a significant potential outcome if phenylalanine levels rise above 10 mg/dL?
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What role does genetic counseling play in the management of PKU?
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Study Notes
Neural Tube Defects
- Neural tube defects are caused by improper closure of the neural tube during embryonic development.
- Hydrocephalus and spina bifida are the most common neural tube defects.
- Hydrocephalus is caused by an excess buildup of cerebrospinal fluid (CSF) in the ventricles of the brain leading to increased intracranial pressure.
- Hydrocephalus can be congenital (present at birth) or acquired (develops later in life).
- Noncommunicating hydrocephalus occurs when CSF flow is blocked between the ventricles and the subarachnoid space.
- Communicating hydrocephalus occurs when CSF is not properly reabsorbed into the subarachnoid space.
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Clinical manifestations of hydrocephalus vary by age and severity.
- Infants may experience rapid head growth, bulging fontanelles, a shiny scalp, dilated veins, a "sunset eye" appearance, lethargy, vomiting, and irritability.
- Older children may present with headaches, cognitive slowing, personality changes, and spasticity.
- Diagnosis of hydrocephalus often includes transillumination of the skull, daily head circumference measurements, and imaging studies such as echoencephalography, CT scans, or MRI scans.
- Treatment options for hydrocephalus include diuretics and surgical placement of a shunt to drain excess CSF.
- Nursing care for infants with hydrocephalus includes frequent position changes, support of the head, lamb's wool padding, careful feeding, and monitoring of vital signs and fontanelles for signs of increased intracranial pressure.
- Postoperative nursing care focuses on preventing infection, managing pain, monitoring for signs of increased intracranial pressure, and patient education regarding shunt care.
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Prognosis for infants treated for hydrocephalus is improved with modern medical and surgical interventions, with 80% survival rate.
- Many infants may achieve normal physical and neurological function, while others may experience varying degrees of developmental disabilities.
Spina Bifida
- Spina bifida is a neural tube defect characterized by malformation of the spinal cord, also known as myelodysplasia.
- Spina bifida occulta is a mild form with a small opening in the vertebrae and no protrusion of structures.
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Spina bifida cystica involves a cystic mass in the midline of the spine and is more serious.
- Meningocele contains only meninges and CSF.
- Meningomyelocele contains meninges, CSF, and spinal cord.
- Prevention of spina bifida is not fully understood but folic acid supplementation during pregnancy is recommended.
- Treatment for spina bifida involves surgical closure of the defect to prevent infection and for cosmetic purposes.
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Habilitation rather than rehabilitation is the focus for spina bifida patients, as they learn to live with their disability from birth.
- This may include wheelchair use, crutches, braces, and bowel/bladder training.
- Nursing care for spina bifida focuses on preventing infection, protecting the sac, proper positioning, skin care, and providing adequate nutrition.
- Postoperative nursing care includes neurological assessment, infection prevention, urological monitoring, skin care, and education about latex allergies.
- Parental support and education are essential for infants with spina bifida, as they may experience a sense of grief and loss.
Cleft Lip
- Cleft lip is a fissure or opening in the upper lip, resulting from incomplete fusion of the maxillary and median nasal processes during embryonic development.
- Treatment for cleft lip involves surgical repair (cheiloplasty) before 6 months of age.
- Preoperative nursing care includes a complete physical exam, routine bloodwork, documentation of any infections, and use of arm restraints to prevent scratching.
- Feeding for infants with cleft lip may require special syringes, nipples, or medicine droppers.
- Postoperative nursing care focuses on preventing sucking and crying, careful positioning, protecting the operative site, providing emotional support, offering appropriate pain relief, and feeding by dropper until the wound heals.
Cleft Palate
- Cleft palate is a failure of the hard palate to fuse at the midline during embryonic development.
- Feeding difficulties are common due to the inability to form negative pressure in the mouth for sucking.
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Treatment for cleft palate involves surgical repair between 12-18 months of age.
- Multidisciplinary teamwork is crucial involving a surgeon, pediatrician, pediatric dentist, orthodontist, nurse, psychologist, speech therapist, and social worker.
- Postoperative nursing care focuses on nutrition, using a cup for fluids and a soft diet, and preventing sucking on straws.
Postoperative Nursing Care for Cleft Lip/Palate Repair
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Preventing injury to the operative site:
- Consult with physician about feeding (such as sucking)
- Comfort the child to reduce crying
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Positioning:
- Use elbow restraints
- Use Logan bow
- Avoid abdominal positioning
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Prevention of infection:
- Gently cleanse sutures
- Use antiseptic mouthwash prescribed by HCP
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Emotional care:
- Cuddling
- Other means of expressing affection and comfort
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Pain relief:
- Pain relief or sedation appropriate for the infant
Clubfoot
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Pathophysiology:
- Foot is twisted inward or outward
- Incidence of 1 in 1000 births
- Mild cases are caused by improper position in the uterus and can be fixed with manipulative exercises
- True clubfoot cannot be fixed with simple exercises
- Most common type is talipes equinovarus, which is seen in 95% of patients
- Feet are turned inward, and the child walks on the toes and the outer border of the feet
- Generally involves both feet
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Treatment: Begins early as possible
- Conservative: splinting or casting the foot in the right position during infancy
- Passive stretching exercises are also recommended
- Surgery: May be indicated if conservative methods are not effective by 3 months
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Nursing Care:
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Cast Care:
- Plaster casts: dry from the inside out over 24-48 hours, left uncovered and protected from pressures
- Synthetic casts: lighter, dry faster, and water resistant
- Observe toes for capillary refill, pallor, cyanosis, swelling, coldness, numbness, pain, or burning
- If circulation is poor, the cast may need to be split to relieve pressure or removed and reapplied
- If surgery on tendons and bones is performed, monitor VS and observe for any bleeding
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Cast Care:
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Review:
- Normal growth and development of children in the patient’s age range to anticipate problems and educate parents
- Children in casts may be slow in developing certain motor abilities
- Educate parents about orthopedic devices, cast care, exercise, hygiene, and treatment goals
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Financial Assistance:
- Financial burdens of hospitalizations, surgery, special shoes, and ongoing medical supervision may require social service referrals
Developmental Hip Dysplasia
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Pathophysiology:
- Head of the femur is partly or completely displaced due to a shallow hip socket (acetabulum).
- Caused by heredity and environmental factors.
- Hip malformation
- Joint laxity
- Breech position
- Maternal hormones
- Seven times more common in girls than boys
- Early detection and treatment are important to prevent bone ossification.
- High risk of dysplasia in cultures where newborns are wrapped snugly with hips adducted and extended
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Manifestations:
- Commonly discovered during periodic health examinations in the first or second month of life.
- Most reliable sign is limited abduction of the leg on the affected side
- Asymmetry of skin folds and shortening of the femur are early signs of dislocation
- Ortolani’s sign: femoral head slips back into the acetabulum under gentle pressure
- Barlow’s test: adducting and extending the hips while stabilizing the pelvis
- Radiographic studies confirm the diagnosis.
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Treatment: Begins immediately on detection of the dislocation.
- Maintaining constant flexion and abduction of the hips for 4-8 weeks to keep the head of the femur within the hip socket
- Pavlik harness: long-term immobilization for severe dislocations or if the dislocation was not detected until the child starts walking.
- Spica cast: maintains the legs in a froglike position.
- Length of time in the cast varies on the progress and growth of the child and the condition of the cast (usually several months, changed every 6 weeks).
- Surgery: required in infants older than 18 months who don’t respond to treatment.
- Open reduction of the dislocation and repair of the hip shelf is performed followed by a cast.
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Nursing Care:
- Observe infants during baths for signs of hip dysplasia.
- Note gait and posture of older children
- Guide parents on the care and application of the Pavlik harness.
- Perform neurovascular assessments of children with body spica casts. Ensure circulation is not impaired, leading to ischemia.
- Place firm, plastic-covered pillows beneath the curvatures of the cast for support. Use overhead bars and trapezes for older children.
- Elevate the head of the patient’s bed slightly for drainage. Do not use pillows to elevate the head or shoulders of children in body casts.
- Encourage frequent changes of position for the child.
- Older children should be informed about the procedure and involved to give them a sense of control.
- Position older children on their abdomen during meals to facilitate swallowing and self-feeding.
- Prevent objects small enough to be hidden inside the cast from reaching the child.
- Toys that can be used while in a prone position are best (leave within reach for greater sense of control)
- Frequent adjustments in home and clinical care are necessary due to the child's rapid growth and development
- Transport using a wagon built up with pillows.
- Encourage the child to participate in family and play activities to promote normal growth and development.
Phenylketonuria (PKU)
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Pathophysiology:
- Caused by a faulty metabolism of phenylalanine, which is an amino acid essential for life and found in all protein foods.
- Hepatic enzyme phenylalanine hydrolase converts phenylalanine into tyrosine, but this enzyme is missing in classic PKU.
- This prevents the body from using phenylalanine.
- Transmitted by an autosomal recessive gene.
- When infants are fed breast milk or formula, phenylalanine builds up in the bloodstream, reaching 20 times the normal amount.
- Its byproduct, phenylpyruvic acid, appears in the urine in the first few weeks of life, leading to brain damage.
- PKU occurs mainly in children with blonde hair and blue eyes, these features result from lack of tyrosine, a necessary component of the pigment melanin.
- Early detection and treatment are paramount.
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Manifestations:
- Severe retardation evidenced in infancy.
- Infants appear normal at birth but begin to show delayed development around 4-6 months.
- Failure to thrive.
- Skin conditions like eczema.
- A peculiar musty odor.
- Personality disorders.
- Seizures.
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Diagnosis:
- Guthrie blood test: widely used and considered the most reliable test. Blood is obtained by a heel stick, placed on filter paper, and sent to the lab.
- Recommended to obtain 48-72 hours after birth, preferably after the ingestion of proteins.
- May be repeated within two weeks due to early discharge.
- Confirmation requires quantitative elevations of phenylalanine compounds in the blood.
- Guthrie blood test: widely used and considered the most reliable test. Blood is obtained by a heel stick, placed on filter paper, and sent to the lab.
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Treatment:
- Close dietary management: Provide enough protein for growth and tissue repair, but with low phenylalanine.
- Formulas:
- Lofenalac or Phenex-1 for infants
- Phenyl-Free for children
- Phenex-2 for adolescents.
- Breast milk: low in phenylalanine, infants can be partially breastfed and supplemented with Lofenalac.
- Solid foods: introduced at the same time as children without PKU.
- Dietitian consultation for guidance and support
- Exchange list for food selections to aid children in participating and monitoring their progress.
- Formulas:
- Avoid the sweetener aspartame, which converts to phenylalanine in the body.
- Flavoring substitutes with fruit-flavored powder or chocolate flavoring to increase compliance.
- Sapropterin dihydrochloride (Kuvan): first drug designed to break down excess phenylalanine in the blood.
- Frequent evaluation of blood phenylalanine levels (goal: maintain a level of 2–10 mg/dL)
- Levels below 2 mg/dL may cause growth retardation.
- Levels above 10 mg/dL can cause significant brain damage.
- Genetic counseling: important for family planning.
- Women with PKU must follow a low-phenylalanine diet before conception to prevent brain damage to the fetus during development.
- Levels greater than 6 mg/dL can affect the development of the embryo.
- Close dietary management: Provide enough protein for growth and tissue repair, but with low phenylalanine.
Maple Syrup Urine Disease
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Pathophysiology:
- Caused by a defect in the metabolism of branched-chain amino acids.
- Results in marked serum elevations of leucine, isoleucine, and valine.
- Can lead to acidosis, cerebral degeneration, and death within 2 weeks if left untreated.
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Manifestations:
- Infants appear healthy at birth, but soon develop feeding difficulties.
- Loss of Moro reflex.
- Irregular respirations.
- Convulsions.
- Urine, sweat, and cerumen (earwax) have a characteristic sweet or maple syrup odor (caused by ketoacidosis).
- Urine contains high levels of leucine, isoleucine, and valine.
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Diagnosis:
- Confirmed by blood and urine tests.
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Treatment:
- Early detection in the newborn period is critical.
- Removal of these amino acids and their metabolites from the tissues of the body through hydration and peritoneal dialysis.
- Lifelong diet that is low in the amino acids leucine, isoleucine, and valine.
- Formulas specifically for this disease are available.
- Exacerbations can be life-threatening and are related to the degree of abnormality in the leucine level.
- Exacerbations can be triggered by infection.
Galactosemia
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Pathophysiology:
- The body is unable to use the carbohydrates galactose and lactose.
Galactosemia
- A genetic metabolic disorder that prevents the body from breaking down galactose, a type of sugar found in milk.
- Infants with galactosemia may experience lethargy, vomiting, hypotonia (low muscle tone), diarrhea, failure to thrive, and jaundice.
- Diagnosed through blood and urine tests that reveal high levels of galactose, galactosuria, and low enzyme activity in red blood cells.
- Treatment involves eliminating milk and lactose-containing products from the diet.
Phenylketonuria (PKU)
- A genetic metabolic disorder that prevents the body from breaking down phenylalanine, an amino acid found in protein.
- Infants with PKU are screened at 48-72 hours of age with the Guthrie blood test, preferably after ingesting proteins.
- The test is repeated within 2 weeks to ensure adequate milk intake.
- If the initial PKU screening is positive, a confirmatory test is performed to measure high blood phenylalanine levels.
- Treatment involves a lifelong diet low in phenylalanine to prevent neurological damage.
Down Syndrome
- One of the most common chromosomal abnormalities, affecting approximately 1 in 700 births in the US.
- The most common cause of genetic intellectual disability.
- Three phenotypes (genetic makeups) of Down syndrome:
- Trisomy 21 (95%): three number 21 chromosomes instead of the normal two.
- Mosaicism: a mixture of normal and abnormal cells due to nondisjunction later in development.
- Translocation: a piece of chromosome 21 breaks off and attaches to another chromosome.
- Screening begins in the first trimester of pregnancy with an ultrasound assessment of nuchal translucency and nasal bone presence.
- Second trimester “quad test” involves testing for AFP, UE, inhibin-A, and hCG levels.
- Positive tests in the first and second trimester may lead to amniocentesis for confirmation.
- Diagnosed by clinical manifestations, but a chromosomal analysis confirms the specific type.
- Physical characteristics: close-set and upward slanting eyes, small head, round face, flat nose, protruding tongue, short and thick neck, simian line, short and thick hands, curved little finger, wide space between the first and second toes.
- May experience slower growth and development, intellectual limitations, congenital heart deformities, respiratory and ear infections, speech and hearing problems.
- Increased risk of acute leukemia and Alzheimer's disease in adulthood.
Hemolytic Disease of the Newborn (Erythroblastosis Fetalis)
- A disorder that occurs during fetal life or shortly after birth.
- Caused when an Rh-negative mother and an Rh-positive father produce an Rh-positive fetus.
- Mother's body produces antibodies that cross the placenta and destroy fetal blood cells.
- Preventable through Rh immune globulin (RhoGAM) administration at 28 weeks of gestation and within 72 hours of delivery.
- Diagnosed through maternal health history, indirect Coombs' test, amniocentesis, and fetal Rh status determination from maternal plasma.
- Manifestations: anemia, jaundice, enlargement of the liver and spleen, edema, excess immature RBCs, bilirubin toxicity (kernicterus).
- Treatment includes in utero intravascular transfusion of packed RBCs before birth and exchange transfusion and phototherapy after birth.
- Phototherapy involves using fluorescent lights to reduce bilirubin levels, but it does not address the underlying cause of jaundice.
- Exchange transfusion replaces the infant's blood with Rh-negative blood, removing antibodies and adding healthy cells.### Nursing Care for a Newborn with Hemolytic Disease
- The nurse monitors the newborn's body temperature to maintain a neutral thermal environment.
- The nurse checks laboratory values for any abnormalities or jaundice spread.
- The nurse provides information to the newborn's parents about their child's condition and treatment interventions.
Nursing Care for a Newborn with Intracranial Hemorrhage
- Intracranial hemorrhage is the most common birth injury, often caused by trauma or anoxia, and is more prevalent in preterm infants due to fragile blood vessels.
- Bleeding occurs when blood vessels within the skull rupture.
- The location of the hemorrhage can be subdural, subarachnoid, or intraventricular.
- Symptoms may appear abruptly or gradually, depending on the severity.
- Signs include poor muscle tone, lethargy, weak sucking reflex, respiratory distress, cyanosis, twitching, forceful vomiting, high-pitched cry, seizures, opisthotonos posturing, tense fontanelle, and unequal pupil size.
- Treatment involves placing the infant in an incubator, administering oxygen, continuous monitoring, Vitamin K to control bleeding, Phenobarbital for twitching or seizures, and prophylactic antibiotics and vitamins.
- Nursing care emphasizes gentle handling, head elevation to reduce intracranial pressure, careful feeding due to potential sucking and vomiting issues, and meticulous monitoring for signs of increased intracranial pressure through neurochecks, vital signs, head circumference measurements, and fontanelle palpation.
- Assist the healthcare provider with procedures such as lumbar puncture and subdural hemorrhage aspiration.
- In cases of convulsions, observation and documentation of their character help determine the bleeding location.
Nursing Care for a Newborn with Transient Tachypnea of the Newborn (TTN)
- TTN typically occurs after a cesarean section or rapid vaginal delivery of a term infant.
- It is believed to be caused by delayed absorption of lung fluid after birth.
- Symptoms include tachypnea (rapid breathing), chest retractions, grunting, and mild cyanosis.
- TTN usually resolves spontaneously within 3 days.
- Treatment is supportive, focusing on warmth, energy conservation, and supplemental oxygen administration.
Nursing Care for a Newborn with Meconium Aspiration Syndrome (MAS)
- MAS arises when the fetus or newborn inhales meconium-stained amniotic fluid into the lungs.
- Meconium expulsion into the amniotic fluid often occurs during prolonged labor.
- The infant may aspirate meconium if initial breaths are taken before suctioning, drawing the meconium-stained fluid into the lower airway.
- The primary symptom of MAS is respiratory distress, manifested by nasal flaring, retractions, cyanosis, grunting, rales, and rhonchi.
- Resolves spontaneously within 3 days.
- Treatment is supportive, including warmth, energy conservation, supplemental oxygen, and potential intubation/mechanical ventilation.
Nursing Care for a Newborn with Neonatal Abstinence Syndrome (NAS)
- NAS occurs when the fetus experiences prenatal exposure to drugs like opiates, amphetamines, tranquilizers, or illicit drugs while in the womb.
- These drugs cross the placenta, leading to physiological dependency in the newborn.
- The infant experiences withdrawal symptoms after birth and may face long-term developmental and neurological deficits.
- The main signs of NAS are body tremors and hyperirritability.
- Additional symptoms include wakefulness, diarrhea, poor feeding, sneezing, and yawning.
- Treatment focuses on providing a quiet environment, swaddling, minimizing external stimuli, and vigilant observation for seizures.
Nursing Care for an Infant of a Diabetic Mother
- Maternal diabetes presents various challenges for the newborn, depending on the duration and control of the mother's condition.
- Well-controlled diabetes minimizes adverse effects, but uncontrolled diabetes can lead to serious complications.
- Excess glucose transfer to the fetus results in fetal hyperglycemia, prompting the fetal pancreas to produce excessive insulin.
- Hyperinsulinism, along with increased protein and fatty acid production, often leads to an infant weighing above 4082 g (9 lb), termed "large for gestational age" (LGA) or macrosomia.
- These infants are prone to birth injuries due to their size.
- After birth, they often experience low blood glucose due to the abrupt loss of maternal glucose and pancreatic islet cell hypertrophy.
- This leads to lethargy and hypoglycemia.
- Infants may have a round, puffy face due to increased subcutaneous fat.
- Despite an apparent healthy appearance, developmental deficits, respiratory distress syndrome (RDS), and congenital anomalies can occur.
- Infants born to mothers with poorly controlled severe diabetes may be "small for gestational age" due to poor placental perfusion.
- These infants are at risk for hypoglycemia, hypocalcemia, and hyperbilirubinemia.
- Nursing care involves close vital sign monitoring, early feeding, and frequent blood glucose assessments during the first two days of life.
- Hypoglycemia in the first days of life is defined as a glucose level under 45 mg/dL and can cause permanent brain damage.
- Look for irritability, tremors, and respiratory distress.
Congenital Malformations and Perinatal Injuries
- Students will be divided into small groups to explore congenital malformations in depth.
- Each group will present on the pathophysiology, manifestations, treatments, nursing interventions, and specific emotional support considerations for their assigned malformation.
- The instructor will guide the session and encourage discussion and questions.
Review and Summary
- The class will review key points covered during the session.
- This includes nursing care for newborns with congenital anomalies and perinatal injuries.
- The instructor will solicit student questions and provide explanations to ensure understanding.
Student Evaluation and Feedback
- Students will demonstrate mastery through various evaluation methods, including written exams, oral presentations, simulated performance exercises, and clinical performance, as outlined in the Individual Student Assessment Plan.
- Feedback will be provided after each evaluation to clarify previous instructions, answer questions, and address performance errors.
- Remedial training will be provided as needed outside of scheduled class time.
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