PEDIATRICS CONCEPTS

MS. ANN EMBRDURA, RN, MN MS VALERIE MAE MAGALE, RN JANUARY TO FEBRUARY 2010

L/O/G/O

THE CHILD
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• The high-risk neonate can be defined as a newborn, regardless of gestational age or birth weight, which has a greaterthan-average chance of morbidity or mortality because of conditions or circumstances superimposed on the normal course of events associated with birth and the adjustment to extrauterine existence.

Hospitalization of infants
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• Infants’ response to hospitalizations
– Fears associated with hospitalization commonly include separation from parents and significant others and pain

• Parents’ response to their infants’ hospitalization
– Can be frightening – Variables that affect the parents’ response include: seriousness of the condition, experience with illness, the nature of the procedure, availability of support systems, previous coping abilities, personal ego strengths, additional stress on the family system, cultural and religious beliefs, communication patterns among family members

Effects of illness and hospitalization on children and families

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Children’s understanding of health and illness.

• Young child – is likely to think that misbehavior toward his or her mother caused on illness to occur if the two events occur close in time. • Older child – sometimes feel responsible or guilty about an illness. • Adolescents – often feel invulnerable and may believe that they will never become ill or have an accident.

Effects of illness and hospitalization on children and families
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Infant ( by about 6 months of age ). • Infants have developed an awareness of themselves as separate from their mothers and fathers. • Infants are able to identify primary caretakers and to feel anxious when in contact w/ strangers. • Hospitalization can be traumatic time for the infants.

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• Three Stages Of Separation Anxiety In Early Childhood
• 1st Stage: PROTEST • 2nd Stage: DESPAIR • 3rd Stage: DETACHMENT


Stages of separation anxiety
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PROTEST

• Screaming, crying • Clinging to parents • Withdrawal from other adults

DESPAIR

• Sadness, depression • Withdrawal or compliant behavior • Crying when parents appear

Stages of separation anxiety
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DENIAL
Lack of protest when parents leave Appearance of being happy and content with everyone. Close relationships not established Developmental delay possible

• • • •

• Loss Of Control
– Infant: no problem

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• Toddler:
– Likes routine – May see temper tantrums

• Preschooler:
– Self-centered and engage in magical thinking – Totally misconstrue details – Just don’t understand – Puppets used in play may help – Transitional objects are important

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• Bodily Injury And Pain Response
– Young infant:
• • • • • Generalized body response Local reflex withdrawal of stimulated area Loud crying Facial expression of pain Demonstrates no association between approaching stimulus and subsequent pain

Effects of illness and hospitalization on children and families
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SCHOOL-AGE CHILD

• Older children have a more realistic understanding of the reasons for illness. • Older children understand the functioning of their body parts. • The child may worry about pain, stitches and bandages, and wonder if his or her body will return to normal.

Effects of illness and hospitalization on children and families

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ADOLESCENT

• Adolescent become increasingly aware of physiologic and behavioral causes of illness and injury. • Privacy and modesty are major concerns of adolescents because their physical characteristics are rapidly changing. • Separation from peers, home and school are sited as major stressor of hospitalization by adolescents.

Adaptation to hospitalization
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SPECIAL UNITS AND TYPES OF CARE
Emergency care Intensive care Preoperative and post operative areas Short stay units Isolations Rehabilitation

• • • • • •

Strategies to promote coping and normal development • Child life program • Roaming-in • Therapeutic play

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• Play Therapy
– Provides diversion – Aids in relaxation and increases security – Decreases stressors – Allows for choices – Therapeutic value – Set goals and evaluate

Strategies to promote coping and normal development

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Therapeutic play
Play is important for toddlers Through play they explore environment and learn to identify with significant people in their lives.

Infant and toddlers

• •

Preschooler
» The nurse can intervene to reduce the stress produced by preschooler’s fears through the use of some kind of play. » Playing with safe hospital equipment may help preschoolers to work through feeling such as aggression.

Strategies to promote coping and normal development

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Therapeutic Play

School-age child • School-age children often regress developmentally during hospitalization demonstrating behaviors characteristic of an early states as separation anxiety and fear of body injury. •

Strategies to promote coping and normal development

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Therapeutic Recreation

Adolescents do need a planned recreation program to help them meet developmental needs during hospitalization. • Physical activities that provide an outlet for stress are recommended. • Give teenagers choices to assist them in regaining control.

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• QUESTT Approach
– Q: question child – U: use of pain rating scales – E: evaluate behavioral and physiological changes – S: secure the parents involvement – T: take cause of pain into account – T: take action and evaluate results

Strategies to meet educational needs
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• Parents, teachers, school nurse and other care providers may need to plan together to meet child’s educational needs and to establish an individualized education plan. • The social aspects of school and peers should be considered. • Maintain the child’s and family’s privacy by discussing with them the information needed by others and obtaining written permission before disclosing any information.

Preparation for procedures
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• Special techniques can help child to understand and cope with feelings about procedures.

Preparation for surgery
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• A child’s surgical experience can be elective, planned in advance, or a result of an emergency or trauma.

Preoperative care
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Psychosocial Preparation Physical Preparation

• The goal of preoperative teaching is to reduce the fear associated with the unknown and decrease stress and anxiety associated with surgery.

• Preoperative procedures and guidelines vary among hospitals and outpatient surgical centers.

Postoperative care
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» Postoperative care of the child includes both physical and psychologic care.

Preparation for long-term care
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• Home care with support services such as visiting nurses and physical therapists • A long-term care facility • A specialized rehabilitation center that can provide care for an extended period

Preparation for home care
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• The nurse works with the social service department, home agencies, and family to plan for equipment, procedures and other home care needs.

Assessing the child in preparation for discharge

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• When a child is to be discharged home, the school district should be contacted and plans for education made. This involves an assessment of the child by the school district and formulation of an individualized education plan (IEP).

Preparing the family for home care
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• Family may need to learn physical and rehabilitative procedures for the child’s care.

Preparing parents to act as case managers

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Case manager – coordinate healthcare and to prevent gaps and overlaps.

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• Additional Nursing consideration:
– Primary nursing care helps provide consistent care, which may help reduce the infant’s and parents’ anxiety and fear – The nurse should encourage parent’s presence and involvement in their infant’s care and arrange for rooming-in when possible. – The nurse can help minimize separation reaction by spending time with the infant when parents are not present – Smooth, unhurried movements, gentle touching, and soothing talk help increase the infant’s trust in the caregiver.

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Classification of High-risk newborns
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• is according to birth weight, gestational age and predominant pathophysiologic problems. The more common problems related to physiologic status are closely associated with the infant’s state of maturity and usually involve chemical disturbances (hypoglycemia, hypocalcemia), and consequences of immature organs and systems (hyperbilirubinemia).

CLASSIFICATION ACCORDING TO SIZE:
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– LOW BIRTH WEIGTH (LBW) infant: an infant whose birth weight is less than 2500 g (5.5 lbs) regardless of gestational age. – VERY LOW BIRTH WEIGHT (VLBW) infant: an infant whose weight is less than 1500 g (3.3 lbs). – EXTREMELY LOW BIRTH WEIGHT (ELBW) infant: an infant whose birth weight is less than 1000 g (2.2 lbs) – APPROPRIATE-FOR-GESTATIONAL-AGE (AGA) infant: an infant whose weight falls between the 10th or 9th percentiles on intrauterine growth curves. – SMALL FOR DATE (SFD) or SMALL FOR GESTATIONAL AGE (SGA) infant: an infant whose rate of intrauterine growth was slowed and whose birth weight falls below the 10th percentile on intrauterine growth curves. – INTRAUTERINE GROWTH RESTRICTION (IUGR): found in infants whose intrauterine growth is retarded (sometimes used as a more descriptive term for the SGA infant)? – LARGE FOR GESTATIONAL AGE (LGA) infant: an infant whose birth weight falls above the 90th percentile on intrauterine growth charts.

CLASSIFICATION ACCORDING TO GESTATIONAL AGE

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– PREMATURE (preterm) infant: an infant born before the completion of 37 weeks, regardless of birth weight. – FULL TERM infant: an infant born between the beginning of the 38th week and the completion of 42 weeks of gestation, regardless of birth weight. – POSTMATURE (post term) infant: an infant born after 42 weeks of gestational age, regardless of birth weight.

CLASSIFICATION ACCORDING TO MORTALITY

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– LIVE BIRTH: Birth, in which the neonate manifests any heartbeat, breathes or displays voluntary movement, regardless of gestational age. – FETAL DEATH: death of the fetus after 20 weeks of gestation and before delivery, with absence of any signs of life after birth.

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– NEONATAL DEATH: death that occurs in the first 37 days of life, early neonatal death occurs in the first week of life; late neonatal death occurs at 7 to 27 days. – PERINATAL DEATH: describes the total number of fetal and early neonatal deaths per 1000 live births. – POSTNATAL DEATH: death that occurs at 28 days to 1 year after birth.

NURSING CARE OF HIGH RISK NEWBORNS • ASSESSMENT INCLUDES

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– MONITORING OF THE APICAL HEART RATE – THERMOREGULATION – PROTECTION FROM INFECTION – HYDRATION – NUTRITION
• TAKE NOTE OF FEEDING RESISTANCE

– Last but not the least SKIN CARE

Common soft tissue injury of the newborn

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• Erythema and abrasions: usually the result of the application of forceps; discoloration the same configuration as the instrument • Petechiae: nonraised, pinpoint hemorrhages caused by sudden increase and the release of pressure during the passage through the birth canal; maybe seen on the chest, face and head. • Ecchymoses: small hemorrhagic areas (larger than petechiae) that may occur after traumaic, precipitous, or brech delivery.

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• Subcutaneous fat necrosis: clearly outlined masses located in the subcutaneous tissues that are firm to the overlying skin but movable over the underlying tissue, most likely caused by traumati manipulation during delivery. • Subjunctival (scleral) hemorrhages: the result of rupture of capillaries in the sclera from pressure on the fetal head during delivery; most commonly located in the limbus of the iris. • Retinal hemorrhages: flame-shaped, irregular, or round areas of bleeding in the retina from excessive pressure on the fetal head during delivery; extensive areas possibly indicative of subdural hematoma or brain trauma

NURSING CARE MGT
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• Directed toward assessment and observation • Vigilance toward skin breakdown and infection, though rarely acute blood loss and hypovolemia... • These visible injuries usually resolve spontaneously.

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Paralyses among the newborns
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• Facial paralysis: pressure on the facial nerve (7th CN) during delivery may result in injury to the nerve.
– Primary clinical manifestations: loss of movement on the affected side, drooping of the corner of the mouth, and absence of wrinkling of the forehead and nasolabial fold. – No medical intervention is necessary. The paralysis disappears spontaneously from days to months.

• Brachial Paralysis: brachial plexus injury results from forces that alter the normal position and relationship of the arm, shoulder, and neck. It is often referred to as obstetrical brachial plexus
– Erb –Duchenne paralysis (Erb Paralysis) is caused by damage to the upper plexus which results from a stretching or pulling away of the shoulder from the head. The less common lower plexus palsy, or Klumpke paralysis, results from severe stretching of the upper extremity while the trunk is relatively less mobile.

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– Manifestations of Erb-Duchenne paralysis are limpproperty of ABE arms, personal shoulder & arm are adducted and internally rotated, elbow is extended, forearm is pronated, with the wrist and fingers flexed – Manifestations of lower plexus palsy are: the muscles of the hand are paralyzed, with consequent wrist drop and relaxed fingers – Treatment of the affected arm is aimed at preventing contractures of the paralyzed muscles and maintaining correct placement of the humeral head within the glenoid fossa of the scapula. Avulsion of the nerves(complete disconnection of the ganglia from the spinal cord that involves both the anterior and posterior roots) results in permanent damage. – injection of Botulinum toxin type A into the triceps muscles may reduces muscle contractures after birth-related Phrenic Nerve Paralysis: results in diaphragmatic paralysis as demonstrated by UTS showing paradoxical chest movement and an elevated diaphragm. Respiratory distress is the most common and important sign of injury. Bcause injury to the phrenic nerve is usually unilateral, the lung on the affected side does not expand and respiratory efforts are ineffective.

Nursing care mgt.
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• Facial nerve paralysis: involves aiding the infant in sucking. Use caution when using a soft rubber nipple with larger hole. May require partial gavage feeding and supplemental oral stimulation with a minimum amount of formula to prevent aspiration. Breast feeding is not contraindicated. Apply artificial tears on the open eye to prevent drying of the conjunctiva, sclera, and cornea • Brachial palsy, positioning of the affected arm. Immobilize on the upper abdomen. Passive rangeof-motion exercises of the shoulder, wrist, elbow, and finger. Apply splints to prevent wrist flexion contractures. • Phrenic nerve palsy: same care applied to patients with respiratory failure.

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Problems related to physiologic factors
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• HYPERBILIRUBINEMIA is a common and, in most cases, benign problem in neonates. Jaundice is observed during the 1st wk of life in approximately 60% of term infants and 80% of preterm infants. The yellow color usually results from the accumulation of unconjugated, nonpolar, lipid-soluble bilirubin pigment in the skin.
– Although bilirubin may have a physiologic role as an antioxidant, elevated levels of indirect, unconjugated bilirubin are potentially neurotoxic. Even though the conjugated form is not neurotoxic, direct hyperbilirubinemia indicates potentially serious hepatic disorders or systemic illnesses.

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• Patho: Bilirubin is one of the breakdown products of hemoglobin. When the RBCs breakdown the products (heme and globin) are released into the circulation. The globin -protein-portion is used by the body and the heme is converted to unconjugated bilirubin, an insoluble substance bound to albumin.

Complications:
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– Bilirubin encephalopathy, a term that

describes varying degrees of cns damage resulting from deposition of unconjugated bilirubin in brain cells.
• s/s: prodromal symptoms consists of decreased activity, lethargy, irritability, and a loss of interest in feeding. Withinn several days: rigidity of all 4 extremitiies, opisthotonos, fever, irritable cry and seizures • Characteristic feature: sensorineural hearing loss, dental enamel hypoplasia, gaze paralysis, athetosis (involuntary writihing movements), and delayed motor skills

– Kernicterus, describes the yellow staining of the brain cells that may result in

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• Physiologic jaundice: On average, newborns

produce twice as much bilirubin as do adults because of higher concentrations of circulating erythrocytes and a shorter life span of RBCs (70-90 days, in contrast to 120 days in older children and adults). In addition, the liver’s ability to conjugate bilirubin is reduced because of limited production of glucuronyl transferase. Newborns also have a lower plasma binding capacity for bilirubin because of lower albumin concentrations than older children. Normal changes in hepatic circulation following after birth may contribute to excessive demands on liver function.

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• Clinical manifestations:
– Jaundice, yellowish discoloration primarily of the sclera, nails, or skin. – The intensity of the jaundice is not always related to the degree of hyperbilirubinemia.

• DX:
– Normal value: 0.2 to 1.4 mg/dl. In the newborn, levels must exceed 5 mg/dl before jaundice (icterus) is observable.\ – Transcutaneous bilirubinometry /TcB: is a non invasive monitoring of bilirubin via cutaneous reflectance measurements

Indicators of neonatal hyperbilirubinemia
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• Appearance of clinical jaundice within 24 hours of birth • Persistent clinical jaundice over 2 weeks in fullterm, formula fed infant • Total serum bilirubin levels over 12.9mg.dl-term infant or over 15 mg/dl-preterm infant; upper limit for breast-fed infant:15mg/dl • Increase in serum bilirubin over 5 mg/dl • Direct bilirubin over 1.5 to 2 mg/dl • Total serum bilirubin level over the 95th percentile for age (in hours) on hour-specific risk nomogram

Therapeutic mgt
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• Primary goals are:
– Prevent bilirubin encephalopathy – Reverse hemolytic process

• Phototherapy: consists of exposing the infant's skin to fluorescent light.
– Light promotes bilirubin excretion by photoisomerization, which alters the structure of bilirubin to a soluble form (lumirubin) for easier excretion

Nursing care mgt
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• PE: assess for jaundice at regular intervals • Phototherapy as indicated and frequent serum bilirubin levels are taken. Chart correctly. • Do not put lotions to prevent tanning or frying effects. • Watch out for rebound effect, if the phototherapy is discontinued. Usually transient and resolves with therapy • Bronze baby syndrome, in which the serum, urine and skin turn greyish brown several hours after the infant is placed under the light.

HEMOLYTIC DISEASE OF THE NEWBORN (HDN)

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• Major causes of increased erythrocyte destruction are
– isoimmunization (primarily RhD) and – ABO incompatibility.

• Rh INCOMPATIBILITY (ISOIMMUNIZATION)
– The Rh blood group consists of several antigen-.,....D being the most prevalent
• Erythroblastosis fetalis: is a term coined to describe the fetus attempts to compensate foe the progressive hemolysis by accelerating the rate of erythropoiesis.

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• ABO incompatibility:
– is the most common cause of hemolytic disease of the newborn. Approximately 15% of live births are at risk, but manifestations of disease develop in only 0.3–2.2%. Major blood group incompatibility between the mother and fetus generally results in milder disease than Rh incompatibility does. Maternal antibody may be formed against B cells if the mother is type A or against A cells if the mother is type B.

– usually the hemolytic reaction is less severe than the Rh incompatibility.

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• Clinical manifestations

Isoimminuzation: – The severity of the disease may range from only laboratory evidence of mild hemolysis (15% of cases) to severe anemia with compensatory hyperplasia of erythropoietic tissue leading to massive enlargement of the liver and spleen. When the compensatory capacity of the hematopoietic system is exceeded, profound anemia occurs and results in pallor, signs of cardiac decompensation (cardiomegaly, respiratory distress), massive anasarca, and circulatory collapse. .

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• Clinical manifestation

ABO incomptibility – Most cases are mild, with jaundice being the only clinical manifestation. The infant is not generally affected at birth; pallor is not present, and hydrops fetalis is extremely rare. The liver and spleen are not greatly enlarged, if at all. Jaundice usually appears during the 1st 24 hr. Rarely, it may become severe, and symptoms and signs of kernicterus develop rapidly.

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• Dx
• CBC both the mother and the liveborn infant • A maternal antibody titer (Coombs’ test-a test for antibodies in red blood cells, used as a test for erythroblastosis fetalis and other haemolytic syndromes) • Amniocentesis was classically used to assess fetal hemolysis. Hemolysis of fetal RBCs produces hyperbilirubinemia before the onset of severe anemia

Therapeutic mgt
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• Aim: prevention for isoimmunization.
– The risk of initial sensitization of Rh-negative mothers has been reduced to less than 1% by the intramuscular injection of 300 μg of human anti-D globulin (1 mL of RhoGAM) within 72 hr of delivery of an Rh-positive infant, ectopic pregnancy, abdominal trauma in pregnancy, amniocentesis, chorionic villus biopsy, or abortion.

• Postnatal therapy is phototherapy • Intrauterine transfusion: infants of mothers
already sensitized may be treated this type of transfusion which consists of infusing blood into the umbilical vein.

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• Exchange transfusion: is done in which the infant’s blood is removed in small amounts –usu 5 to 10 ml at a time – and replaced with compatible blood –Rhblood. This is a standard mode of therapy for treatment of sever hyperbilirubinemia that is unresponsive to phototherapy, and it is the treatment of choice for sever hyperbilirubinemia and hydrops.

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Nursing care mgt
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• Identifying jaundice • During the exchange transfusion:, the nurse prepares the infant and family. • Infant must remain NPO during the procedure, therefore peripheral and dextrose is established. • Documentation • Vital signs monitoring

Hypoglycemia
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• Is present when the newborn’s blood glucose concentration is lower that the body’s requirement for cellular energy and metabolism • Also infants having a plasma glucose of less than 45 mg/dl (2.5mmol/L) • According to Marconi, Cetin, Davoli, et al. 1993, that there is significant evidence that fetal glucose concentrations should e optimally be above 50mg/dl for appropriate brain development to occur.

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• After birth the infant must supply nutrients to meet energy requirements for maintaining body temperature, respiration, muscular activity and regulation of blood glucose. • Although the newborns demonstrate the ability to use ketones and amino acids as energy substrate, there are limitations to this. Conditions that decrease the availability of substrate or prevent appropriate metabolism of available substrate place the infant at risk for hypoglycemia

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• Clinical manifestations:
– Hypocalcemia, septicemia, CNS disorders, or cardiorespiratory problems. – Cerebral signs includes: jitteriness, tremors. Twitching, weak or high-pitched cry, lethargy, hypotonia, limpness, seizures, and coma – May include apnea, rapid respirations, sweating, eye rolling, refusal to feed.

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• Dx: direct analysis of blood glucose concentration. Two consecutive specimens of blood should be analyzed because of the many factors that can affect the readings. Blood specimens may be obtained from heel, arterial, or venous punctures.

Therapeutic mgt
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• Intravenous infusion of glucose is one method. • In full term infants who are borderline hypoglycemic and clinically asymptomatic, the early institution of milk feeding may normalize blood glucose.

Nursing care mgt
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• Avoid too rapid infusions of the hypertonic solution as in can cause circulatory overload, hyperglycemia, and intracellular dehydration.

Hypocalcemia
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• Metabolic bone disease is a common complication in very low birth weight preterm infants. The smallest sickest infants are at greatest risk. Progressive osteopenia with demineralized bones and occasionally pathologic fractures may develop. The major cause is inadequate intake of calcium to meet the requirements for growth.

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• Late-onset hypocalcemia, which is not apparent until after the first 3-4 days of life, is commonly referred to as cow’s milk-induced hypocalcemia or neonatal tetany.
– Cow’s milk, has a high phosphorus content, produces hyperphosphatemia and a resultant hypocalcemia by either increasing calcium deposition in the bone and soft tissues, enhancing the hypocalcemic effect of calcitonin or inhibiting the calcemic response to

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• Dx: normal neonatal serum calcium values are usu 7.0 to 8.5 mg/dl (1.75 to 2.12 mmol/L) • In full term infants hypocalcemia is indicated at ionized calcium levels below 3.0 to 4.4 mg/dl (1.1mmol/L)

Therapeutic mgt
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• Early onset hypocalcemia is temporary ad resolves in 1-3 days. • Restore normal calcium levels thru early feedings, physiologic correction of hypoparathyriodism, and sometimes adm of calcium supplements • IM adm of calcium is contraindicated because it precipitates in the tissue, causing necrosis

Nursing care mgt
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• • • •

Assess for the cause and adm of calcium Observe the infusion site for extravasation Observe for sign of acute hypercalcemia Teach parents the signs of hypocalcemia or hypercalcemia in the infant receiving supplemental calcium

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Inborn errors of metabolism
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• Infants with metabolic disorders are usually normal at birth; signs and symptoms such as lethargy, poor feeding, convulsions, and vomiting may develop as early as a few hours after birth. A history of clinical deterioration in a previously normal neonate should suggest an inborn error of metabolism

Phenylketonuria
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• Phenylalanine is an essential amino acid. Dietary phenylalanine not utilized for protein synthesis is normally degraded by way of the tyrosine pathway • Deficiency of the enzyme phenylalanine hydroxylase or of its cofactor tetrahydrobiopterin causes accumulation of phenylalanine in body fluids and the central nervous system (CNS).

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• In PKU, the hepatic enzyme phenylalanine hydroxylase, which controls the conversion of phenylalanine to tyrosine, is absent. This results in the accumulation of phenylalanine in the bloodstream and urinary excretion of abnormal amounts of its metabolites, the phenyl acids. One of these phenyl ketones, phenylpyruvic acid, gives the urine the characteristic musty odor associated with this disease and is responsible for the term phenylketonuria.

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• Clinical manifestations:
– Mental retardation may develop gradually and may not be evident for the 1st few months. It is usually severe, and most patients require institutional care if the condition remains untreated. Vomiting, sometimes severe enough to be misdiagnosed as pyloric stenosis, may be an early symptom. Older untreated children become hyperactive, with purposeless movements, rhythmic rocking, and athetosis.

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• Dx:
– Objective is to prevent mental retardation.
– Neonatal Screening for Hyperphenylalaninemia
• Guthrie bacterial inhibition assay. The most common. Bacillus subtilis, present in the culture medium grows if the blood contains an excessive amount of phenylalanine normal range in newborn is 0.5 to 1 mg/dl. Only fresh heel blood, not cord blood, can be used for the test. • McCamon-Robins fluoromatic assay test, samples are drawn when the infant is 12-24 hours old.

Therapeutic mgt
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• Ttt involves restriction of dietary protein • Phenylalanine cannot be totally eliminated because it is an essential amino acid in tissue growth.
• Bcause all natural food contain approx 15% phenylalanine, especially prep milk substitute. Some of these products are made from specially treated enzymatic casein hydrolyze, w/c provides only 0.4% phenylalanine. • In one study early breast feeding in infants with PKU before diagnosis was shown to be a positive factor in the nuerodevelopmental performance of the child.

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• Examples of formula for infants and toddlers with metabolic conditions
– Phenyl Free 1( Mead Johnson) – Phenyl Free 2 (Mead Johnson) – Phenex 1 (Ross) – Phenex 2 (Ross)

Nursing care mgt
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• Teach the family on dietary restrictions. • Family support, the parents have the burden of knowing they are carriers of the defect and must make serious decisions regarding future children.

Galactosemia
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• Milk and dairy products contain lactose, the major dietary source of galactose. The metabolism of galactose produces fuel for cellular metabolism through its conversion to glucose-1-phosphate • Galactose also plays an important role in the formation of galactosides, which include glycoproteins, glycolipids, and glycosaminoglycans.

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• Two forms of the deficiency exist: Infants with complete or near complete deficiency of the enzyme (classic galactosemia) and those with partial transferase deficiency.

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• Classic galactosemia is a serious disease with onset of symptoms typically by the 2nd half of the 1st wk of life. The incidence is 1/60,000

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• Clinical manifestations:
– The diagnosis of uridyl transferase deficiency should be considered in newborn or young infants with any of the following features: jaundice, hepatomegaly, vomiting, hypoglycemia, convulsions, lethargy, irritability, feeding difficulties, poor weight gain or failure to regain birth weight, aminoaciduria, nuclear cataracts, vitreous hemorrhage, hepatic failure, liver cirrhosis, ascites, splenomegaly, or mental retardation.

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• Partial transferase deficiency is generally asymptomatic

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• Dx:
– The preliminary diagnosis of galactosemia is made by demonstrating a reducing substance in several urine specimens collected while the patient is receiving human milk, cow's milk, or any other formula containing lactose

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• Genetics: Transferase deficiency galactosemia is an autosomal recessive disorder. There are several enzymatic variants of galactosemia.
– The Duarte variant, a single amino acid substitution (N314D), has diminished red cell enzyme activity but usually no clinical significance.

Therapeutic mgt
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• Because of newborn screening for galactosemia, patients are being identified and treated early. Various milk substitutes are available (casein hydrolysates, soybean-based formula • Elimination of galactose from the diet reverses growth failure and renal and hepatic dysfunction. Cataracts regress, and most patients have no impairment of eyesight.

Nursing care mgt
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• Similar to PKU, and other IEMs except that the dietary restrictions are easier to maintain because many more foods are allowed. • Avoid lactose containing food, esp in diary products. • Some drugs do contain lactose as filler ( must be avoided)—in some penicillins

Congenital hypothyroidism
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• Hypothyroidism results from deficient production of thyroid hormone or a defect in thyroid hormone receptor activity . When symptoms appear after a period of apparently normal thyroid function, the disorder may be truly “acquired” or may only appear so as a result of one of a variety of congenital defects in which the manifestation of the deficiency is delayed. The term cretinism, although often used synonymously with endemic iodine deficiency and congenital hypothyroidism, is to be avoided

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• Causes
– Endemic cretinism is caused by iodine deficiency and is occasionally exacerbated by naturally occurring goitrogens.7 Congenital hypothyroidism can be caused by any of the following: • Dysgenesis of the thyroid gland • Inborn errors of thyroid hormone metabolism - Dyshormonogenesis (most cases are familial and inherited as autosomal recessive conditions) • Thyroid hormone resistance • Maternal autoimmune disease (transient or permanent)

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• Clinical manifestations
– Signs of congenital hypothyroidism in a newborn may be very subtle. Signs of congenital hypothyroidism in a newborn include:
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● Feeding problems ● Lethargy (Lack of energy) ● Jaundice (Yellowing of skin or whites of eyes) ● Constipation ● Larger protruding tongue ● Cold mottled skin ● Sluggish reflexes

• If untreated CH would appear after 6 wks of life with these features: depressed nasal bridge, short forehead, puffy eyelids, thick, dry, mottled skin that feels cold to touch,; course, dry, lustreless hair; abddistention; umbilical hernia; hyporeflexia; bradycardia; hypothermia; hypotensionl with narrowed pulse pressure; anemia; widely patent caranial sutures; delayed devt of nervous sys leading to mental retardation

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Dx
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– Laboratory Studies:
• Diagnosis of primary hypothyroidism is confirmed by demonstrating decreased levels of serum thyroid hormone (total or free T4) and elevated levels of TSH.

– Imaging studies
• . Thyroid scanning (using technetium-99m or iodine-123
• A lateral radiograph of the knee may be obtained to look for the distal femoral epiphysis. This ossification center appears at about 36 weeks' gestation. Its absence in a term or postterm infant indicates prenatal effects of hypothyroidism, which is a poor prognostic sign

Treatment
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• Medical care
– The mainstay in the treatment of congenital hypothyroidism is early diagnosis and thyroid hormone replacement. One study suggested that optimal care includes diagnosis before age 13 days and normalization of thyroid hormone blood levels by age 3 weeks.8

• Diet
– Dietary iodide supplementation, especially in endemic areas, can prevent endemic cretinism.

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• Medication
– Only levothyroxine is recommended for treatment and has been established as safe, effective, inexpensive, easily administered, and easily monitored.
• Parents should be provided the hormone in pill form and taught proper administration.

– thyroid hormones should be taken for life.

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• In addition:
– Early diagnosis and treatment of congenital hypothyroidism prevents severe mental retardation and other neurologic complications. Even with early treatment, some children demonstrate mild delays in areas such as reading comprehension and arithmetic in third grade. Some of these delays improve by sixth grade. – Parents should be educated regarding their child's disorder, the potential problems associated with no treatment or inadequate treatment, and the benefits of early and appropriate treatment.

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Any questions ??????  Thank you for you attention.  THE END!

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