NCMA 219 LECTURE (PEDIA)
Classification According to
HIGH RISK NEWBORN
A newborn, regardless of gestational age or
birth, who has a greater chance of morbidity or
mortality, usually because of conditions beyond
the normal events related to birth and the
adjustment to extrauterine life.
Classification of High-risk Newborns
A. Classification According to Size
a. Low-birth-weight (LBW) Infant
– an infant whose birth weight
is less than 2500 grams (5.5
lbs.), regardless of gestational
age.
b. Very low-birth-weight (VLBW)
Infant – an infant whose birth
weight is less than 1500 grams
(3.3 lbs.).
c. Extremely low-birth-weight
(ELBW) Infant – an infant
whose birth weight is less than
1000 grams (2.2 lbs.).
d. Appropriate for gestational age
(AGA) Infant – an infant whose
weight falls between the 10th
and 90th percentiles on
intrauterine growth curves.
e. 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.
f. Intrauterine growth restriction
(IUGR) – found in infants with
whose intrauterine growth is
restricted.
g. Large-for-gestational age (LGA)
Infants – an infant whose birth
weight falls above the 90th
percentile on intrauterine
growth charts.
B.
Gestational Age
a. Preterm (premature) Infant – an
infant born before completion of
37 weeks of gestation,
regardless of birth weight.
b. Full-term Infant – an infant born
between the beginning of 38
weeks and the completion of 42
weeks gestation, regardless of
birth weight.
c. Post-term (post mature) infant –
an infant born after 42 weeks of
gestational age, regardless of
birth weight.
d. Late-preterm infant – an infant
born between 34 and 36 weeks
of gestation, regardless of birth
weight.
C. Classification According to Mortality
a. Live birth – birth in which the
neonate manifests any heartbeat,
breathes, or displays voluntary
movement, regardless of
gestational age.
b. Fetal death – death of the fetus
after 20 weeks of gestation and
before delivery, with absence of
any signs of life after birth.
c. Neonatal death – death that
occurs in the first 27 days of
life; early neonatal death occurs
in the first week of life; late
neonatal death occurs at 7 to 27
days.
d. Perinatal mortality – describes
the total number of fetal and
early neonatal deaths per 1000
live birth.
e. Postnatal death – death that
occurs at 28 days to 1 year after
birth.
Assessment
 Initial: APGAR scoring
 Thorough, systematic physical
assessment
 o General assessment  Immune system
o Respiratory  Integumentary system
o Cardiovascular
Post Mature or Post Term Infant
o Gastrointestinal
o Genitourinary  Delivered after the completion of 42
o Neurologic-musculoskeletal weeks of pregnancy or one that exceeds
o Temperature 249 days
o Skin Assessment findings
Premature/Preterm  Behavior: wide awake and mentally
 Born after 20 weeks and before 37 alert
weeks gestation  Skin features are secondary to prolonged
 Low in birth weight malnutrition and dehydration
 Dry, crackles, desquamating,
Risk Factors parchment-like appearance of the skin
 Yellowish-greenish from meconium
 Maternal infection
staining
 Multiple/Multifetal pregnancy
 Absent lanugo and vernix
 Malnutrition
 Depleted store fats/subcutaneous tissues
 Bleeding complications of pregnancy
 Old man’s look
 PIH, DM, cardiac disorder
 Long nails and scalp hair
 PROM
 May have signs of distress due to
 Sever isoimmunization
aspiration of meconium (MAS)
 Trauma
 Incompetent cervix Problems Related to Gestational Weight
Physical Appearance  Appropriate for Gestational Age (AGA)
o Weight between the 10th and 90th
 Old man’s facies
percentile
 Disproportionately large head, flat ears
o 2.5kg to 4kg
 Fine, fuzzy hair and lanugo
 Large for Gestational Age (LGA)
 Small thorax, breast buds (5mm or
o Birthweight above the 90th
below)
 Relatively large, protruding abdomen percentile
 Undescended tests, Scrotum (pink, fine o Greater than 4kg
rugae), underdeveloped labia  Small for Gestational Age (SGA)
 Skin: increased lanugo, thin, red and o Weight below the 10th percentile
wrinkled, visible capillaries, decreased o Less than 2.5kg
subcutaneous fats o Synonyms: dysmaturity, fetal
 Poor muscle tone, soft nails growth restriction (FGR) or
intrauterine growth restriction
Altered Physiology (IUGR)
 Respiratory system Maintaining Thermoneutrality
 Thermoregulation
 Digestive system  Newborns are placed in a heated
 Liver function environment immediately after birth,
 Renal system where they remain until they are abler to
 Nervous system
 independently maintain thermal
stability.
Protection from Infection
 An integral part of all newborn care, but
preterm and sick neonates are
particularly susceptible
 Thorough and frequent handwashing is
the foundation of a preventive program.
Hydration
 High-risk infants often receive
supplemental parenteral fluids to supple
additional calories, electrolytes, and/or
water.
 Adequate hydration is particularly
important in preterm infants because of
their extracellular water content is
higher (90% in preterm).
 Body surface area is larger in
comparison to their weight
 Underdeveloped kidneys
Nutrition
 Optimum nutrition is critical in the
management of preterm infants, but
difficulties arise in providing for their
nutritional needs.
 The various mechanisms for ingestion
and digestion of foods are not fully
developed.
 The more immature the infant, the
greater the problem. Although infants
demonstrate some sucking and
swallowing activities before birth,
coordination of these mechanisms does
not occur until approximately 32 to 34
weeks of gestation, and they are not
fully synchronized until 36 to 37 weeks.
 The infant’s size and condition
determine the amount and method of
feeding. Nutrition can be provided by
either the parenteral or enteral route, or
both. Breast milk, which contains more
protein, sodium, chloride and
immunoglobulin A (IgA), is the
preferred source of milk for preterm
infants.
Skin Care
 Preterm infants have immature skin with
increased sensitivity and fragility.
 Alkaline-based soap that might destroy
the “acid-mantle” of the skin should be
avoided. The use of zinc oxide-based
tape is encouraged to minimize
epidermal stripping: the tape is flexible,
waterproof, and washable. Skin barriers
protect healthy skin and help excoriated
skin heal.
High-risk Neonate
 Is a newborn, regardless of gestational
age or birthweight, who has a greater-
than-average chance of morbidity or
mortality, usually because of conditions
beyond the normal events related to
birth and the adjustment to extrauterine
life.
ACUTE CONDITIONS OF NEONATES
Respiratory Distress Syndrome (RDS)
 a condition of surfactant deficiency and
physiologic immaturity of the thorax.
 It is seen almost exclusively in preterm
infants but may also be associated with
multifetal pregnancies, infants of
diabetic mothers, caesarean section
delivery, cold stress, asphyxia, and a
family history of RDS.
Incidence
 Common in preterm newborns (weight
between 1-1.5 kg)
 High in babies of DM mothers, babies
delivered via CS, and babies whose
mothers had antepartum bleeding
Complications/Associated Problems
 Hypoxia
  Retrolental fibroplasias Assessment
 Atelectasis
 Respiratory distress
 Bronchopulmonary dysplasia (BPD)
o Tachypnea
Assessment o Cyanosis
o Retractions
 Expiratory grunting
 Flaring of nares o Nasal flaring
 Retractions o Grunting, crackles, and rhonchi
 See-saw breathing  Meconium-stained nails, skin, and
 Tachypnea umbilical cord
 Minor signs: Laboratory/Diagnostic Studies
o Cyanosis, pale gray
o Tachycardia, low body  ABG
temperature  Pulse Oximetry
o Dyspnea, periods of apnea  Radiographic findings
o Decreased activity level o Uneven distribution of patchy
o Respiratory acidosis infiltrates, air trapping, hyper-
o Fine rales and diminished breath expansion, and atelectasis
 ECG
sounds
 Laryngoscopy
o Decreased urine, edema of
extremities Apnea of Prematurity
o Decreased muscle tone, absent
bowel sounds  Lapse of spontaneous breathing for 20
seconds or longer, or shorter pauses
Laboratory/Diagnostic Studies accompanied by bradycardia or oxygen
desaturation.
 Laboratory data are non-specific, and
abnormalities observed are identical to Classifications of Apnea
those observed in numerous biochemical
abnormalities of the newborn  Central Apnea
o Blood glucose o Absence of diaphragmatic and
o ABG other respiratory muscle
function that causes lack of
o Pulse Oximetry
respiratory effort
 Radiographic finding
 Obstruction Apnea
o Diffuse granular pattern over
o Airflow stops because of upper
both ling fields
airway obstruction, yet chest or
o Dark streaks, or air
abdominal wall movement is
bronchograms
present.
Meconium Aspiration Syndrome (MAS)  Mixed Apnea
o Combination of central and
 Fetal distress increases intestinal obstructive apnea. Most
peristalsis, relaxing the anal sphincter common form of apnea in
and releasing meconium into the premature infants.
amniotic fluid
 MAS occurs when meconium is present Neonatal Sepsis
in infant lungs during or before delivery
 Generalized infection in the newborn
  A clinical syndrome of systemic illness  Polycythemia
accompanied by bacteremia  Hypothermia
 Bacterial  Birth trauma with bleeding
 Breastfeeding
Risk Factors
 Poor meconium/stool passage
 Prematurity and prolonged period
Assessment
between rupture of membranes and
delivery  Pathologic jaundice
 Dystocia  Pallor
 Maternal infection  Irritability, lethargy
 Resuscitation  Polycythemia
 Aspiration of mucus, meconium and  High-pitched cry
vaginal secretions  Increasing serum bilirubin
 Iatrogenic-infected personnel/equipment
Phototherapy
Assessment
 Use of intense fluorescent lights to
 Lethargy reduce serum bilirubin levels in the
 Poor respiratory effort, apnea, cyanosis, newborn
persistent hypoglycemia, signs of  Transports bilirubin from the skin to the
respiratory distress blood, then to the bile where it is
 Jaundice or pallor excreted and passed out through the
 Decreased of increased temperature stool
 Diarrhea, vomiting, dehydration,
Adverse Effects
abdominal distention
 Weight loss, malnutrition  Eye damage
 Increased WBC  Dehydration
 Sensory deprivation
Laboratory and Diagnostic Studies
Sudden Infant Death Syndrome (SIDS)
 Blood culture
 Urine culture and CSF analysis  Sudden unexpected death of any infant
 CBC  Death usually occurs during sleep
 ESR and C-reactive protein  Cause of death unexplained by post
mortem examination
Hyperbilirubinemia
 Most common cause of death in children
 Excessive levels or serum bilirubin ages 1 month to 1 year
greater than 12-13mg/100mL (NV: 2-  Peak: 2-4 mos., 95%-5th mos.
6mg/100mL)
Etiology
Complications
CAUSE: Unknown
 Kernicterus
 Hypoxemia
Risk Factors  Apnea
 Immature Nervous System
 Prematurity
 Brain stem abnormality in neuro-
 Sepsis/Infection
regulation of cardio-respiratory control
 Exposure to drugs in utero
 Isoimmunization Risk Factors
  Prematurity
 Maternal smoking during pregnancy
 Exposure to tobacco smoke from
environment
 Co-sleeping, bed-sharing
 Prone-sleeping
 Soft beddings, inappropriate bed surface
Appearance When Found
 Blue, apneic & lifeless
 Frothy blood-tinged fluid in nose &
mouth
 Blanket over head, huddled in a corner
with dishevel bed
 Diaper is filled with stool & urine
 Mother: Horrified
Terminologies
a. Hyperbilirubinemia – refers to an
excessive level of accumulated bilirubin
in the blood and characterized by
jaundice
b. Sepsis or septicemia – is a generalized
bacterial infection in the bloodstream
c. Surfactant – a surface-active
phospholipid secreted by type II cells in
the alveolar epithelium, that reduces the
surface tension of fluids that line the
alveoli and respiratory passages,
resulting in uniform expansion and
maintenance of lung expansion at low
intra-alveolar pressure.
d. Sudden infant death syndrome - defined
as the sudden death of an infant younger
than 1 year of age that remains
unexplained after a complete
postmortem examination.
e. Transcutaneous bilirubinometry (TcB) -
refers to the noninvasive monitoring of
bilirubin through cutaneous reflectance
measurements allowing for repetitive
estimations of bilirubin.
DISEASES OF THE NEWBORN
Necrotizing Enterocolitis (NEC)
 An acute inflammatory disease of the
bowel with increased incidence in
preterm and other high risks infants;
 Most common in preterm infants
 Occurs in 4 to 10 days after birth in term
newborn
Factors in the Development of NEC
 Intestinal ischemia
 Colonization by pathogenic bacteria
 Substrate
Assessment
 Tense, distended abdomen
 Large residual greater than 2 ml
 Stool positive for occult blood
 Increased periods of apnea
 Decreased blood pressure
 Poor temperature stability
Diagnostic Testing
 CBC, CRP
 Stool for occult blood
 Abdominal x-ray
 Increase in abdominal girth
measurement
Treatment
 NPO
 OGT (Gastric decompression with
intermittent suction)
 IV Therapy
 Antibiotic therapy
 Oxygen therapy if indicated
 Keep away from other babies
 Regular x-rays for monitoring
 Surgery (perforation)
o Emergency exploratory
laparotomy
 Intestinal resection with
enterostomy
 Primary Anastomosis
 Colostomy or ileostomy
Retinopathy of Prematurity a. Inadequate caloric intake – incorrect
formula preparation, neglect, food fads,
 A serious vaso-proliferative disorder
excessive juice consumption, poverty,
that affects extremely premature infants
breastfeeding problems, behavioral
 Often regresses and heal
problems affecting eating or central
 May also lead to severe visual
nervous system problems affecting
impairment or blindness
intake.
 Primary causes:
b. Inadequate absorption - Cystic fibrosis,
o Prematurity
celiac disease, vitamin or mineral
o Supplementary use of Oxygen deficiencies, biliary atresia, or hepatic
(>30 days) disease.
Assessment c. Increased metabolism -
Hyperthyroidism, congenital heart
 Leukorrhea disease, hyperthyroidism, or chronic
 Vitreous hemorrhage immunodeficiency.
 Myopia d. Defective utilization - Genetic anomaly
 Strabismus such as trisomy 21 or 18, congenital
 Cataracts infection, or metabolic storage diseases.
Management The cause of growth failure is often
multifactorial and involves a combination of
 Laser photocoagulation surgery
infant organic disease, dysfunctional parenting
Failure to Thrive behaviors, subtle neurologic or behavioral
problems, and disturbed parent–child
 Underfeeding is the single commonest interactions.
cause of FTT
 Peak incidence of FTT the age 9-24 Assessment
mos.
 Growth failure
 No significance gender difference
 Developmental delays
 Majority of children less than or equal to
 Undernutrition
18 months old
 Withdrawn behavior
 Uncommon after the age of 5 years
 Feeding or eating disorders
Categories of FTT  No fear of strangers
 Avoidance of eye contact
a. Organic FTT - refers to the noninvasive  Stiff and unyielding, flaccid and
monitoring of bilirubin through unresponsive
cutaneous reflectance measurements  Minimal smiling
allowing for repetitive estimations of
bilirubin. Nutritional Management
b. Non-organic FTT - psychosocial FTT,
Correct nutritional deficiencies and achieve
no known medical condition that causes
ideal weight for age/height
poor growth, inadequate food or
nutrition Allow for catch-up growth
c. Mixed FTT – organic and non-organic
causes co-exist Restore optimum body composition

Categories of FTT According to Educated the parents regarding nutritional

Phatophysiology requirement
Transient Tachypnea of the Newborn (TTN)  Underdeveloped, flattened middle face
(mid-face hypoplasia)
 Respiratory condition that results from
 Almond-shaped, up-slanting eyes, with
incomplete evacuation of fetal lung fluid
redundant tissue along inside
in full-term newborns.
 Prominent epicanthal folds, with small
 Usually disappears within 24 to 48
downturned mouth
hours
 Small oral opening with protruding
Assessment tongue
 Small, low-set ears that may be cupped
 Tachypnea  Chest may be broad, with heart murmurs
 Expiratory grunting related to defects
 Retractions  Short hands with a single crease on the
 Nasal flaring palm
 Difficulty in feeding  Tiny, white spots on the iris of the eye
Management (Brushfield spots)
 Low tone; can be floppy, with breathing
 Close monitoring of respiratory status and feeding problems at birth
 Fluid restriction until stable
 Avoid tiring the newborn Screening and Diagnosis
 Medication-inhaled beta2-antagonist Screening:
salbutamol
 Blood test – measures the levels of
Down Syndrome pregnancy-associated plasma protein-A
 Trisomy 21 and pregnancy hormone HCG.
 A genetic disorder cause when abnormal  Nuchal translucency test – ultrasound is
cell division results in extra genetic used to measure a specific area on the
material from chromosome 21. back of the baby’s neck (more fluid than
 Most common genetic chromosomal usual tends to collect in the neck tissue)
disorder  Quad screen – measures blood level of
 Prognosis: >80% survive to age 60 years four pregnancy-associated substances:
and beyond alpha fetoprotein, estriol, HCG, and
 1 in 691 to 1000 live births inhibin A)
 Cause: unknown Diagnostic tests
 High risk in older women (>35 y/o)
 Lifelong intellectual disability and  Chorionic villus sampling
developmental delays, and in some,  Amniocentesis
causes health problems  Physical features
 Associated health problems (congenital  Chromosomal Karyotype – analyzes
heart defects, respiratory tract chromosomes
infections, thyroid dysfunction, and
Management
leukemia)
 Support family at time of diagnosis
Assessment
 Assist family in preventing physical
 Small head (microcephaly) problems
 Flattened, broad head with flat posterior  Assist in prenatal diagnosis and genetic
areas counseling
Attention Deficit Hyperactivity Disorder
(ADHD)
 A condition that makes it difficult for
children to pay attention and/or control
their behavior
 Onset before age seven/preschool
 Main symptoms are:
o Inattention
o Hyperactivity
o Impulsivity
Predisposing Factors
 Exposing to toxins
 Medications
 Chronic otitis media
 Head trauma
 Perinatal complications
 Neurologic infections
 Mental disorders
Classification
 Combined type - Six (or more)
symptoms of inattention and six (or
more) symptoms of hyperactivity-
impulsivity have persisted for at least 6
months. Most children and adolescents
with the disorder have the combined
type.
 Predominantly inattentive type - Six
(or more) symptoms of inattention (but
fewer than six symptoms
hyperactivity-impulsivity)
persisted for at least 6 months.
 Predominantly hyperactive
impulsive type -Six (or more) symptoms
of hyperactivity-impulsivity (but fewer
than six symptoms of inattention) have
persisted for at least 6 months.
Inattention may often still be a
significant clinical feature in such cases.
Assessment
Predominantly inattentive type
 Fails to give close attention to details or
makes careless mistakes
 Difficulty sustaining attention in tasks or
play
 Does not listen when spoken to
 Does not follow through on instructions
 Fails to finish schoolwork, chores, or
workplace activities
 Difficulty organizing
Predominantly inattentive type
 Avoids or dislikes tasks that require
sustained mental effort
 Loses things necessary for tasks
 Easily distracted and forgetful of daily
activities
Predominantly hyperactive and impulsive
type
 Often fidgets and squirms
 Leaves seat in the classroom
 Runs or climbs excessively or during
inappropriate times
 Difficulty playing or engaging in leisure
activities quietly
 Is “on the go” and talks excessively
 Often blurts out answers before
questions are complete
 Difficulty waiting for his turn
 Interrupts or intrudes on others
Goal of Care
 Promote full-capacity functioning
of o Educate parents about:
have
 Importance and
longevity of treatment
-
 Treatment plan
 Medications –
stimulants
(Methylphenidate or
Ritalin)
 Environmental
manipulation (using
organizational charts,
reducing distractions,
and modeling positive
behaviors)
  Encourage appropriate placement in
classrooms equipped for special training
 Encourage consistency both for home
and at school
 Encourage counseling for children and
families who demonstrate anxiety or
depression
Autism
 Autism is a developmental disorder that
appears in the first 3 years of life, and
affects the brain’s normal development
of social and communication skills.
 Affects boys 3-4 times more than girls
Predisposing Factors
 Genetic
 Prenatal environment-advance age in
either parent, diabetes, bleeding, use of
psychiatric drugs by mother
 Prenatal viral infection-rubella
 Teratogens
 Thyroid problems-lead to thyroxine
deficiency in mother
 Diabetes in mother
Signs and Symptoms
 Appears disinterested or unaware of
other people or what’s going on around
them
 Doesn’t know how to connect with
others, play, make friends
 Prefers not to be touched, held, cuddled
 Doesn’t play pretend games, engage in
group games, imitate others
 Has trouble understanding or talking
about feelings
 Doesn’t seem to hear when others talk to
him or her
 Basic social interaction can be difficult,
prefer to live in their own world, aloof
and detached from others
Common Self-Stimulatory Behavior
 Hand flapping
 Rocking back and fort
 Spinning in a circle
 Finger flicking
 Head banging
 Staring at lights
 Moving finger in front of the eye
 Flicking light switches on and off
 Repeating words or noises
Therapeutic Management
 No Cure
 Educational interventions
o Applied Behavioral Analysis
(ABA)
o Speech therapy-Occupational
therapy (OT)
o Physical therapy (PT)
 Medical Management
o Risperidone, Aripripazole
o Stem cell therapy
Goal of Care
 Promote full-capacity functioning
 Educate parents about:
o Stick to a schedule
o Reward good behavior
o Make time for fun
o Pay attention to child’s sensory
sensitivities
o Create a home safety zone
Terminologies
Attention Deficit Hyperactivity Disorder
(ADHD) – is a persistence in hyperactivity,
impulsiveness, or inattention that is observed
more frequently than in other children at same
developmental level.
Autism – is a developmental disorder of brain
function characterized by deficits in behavior
and often intelligence.
Failure to Thrive – a term used to describe a
child whose weight falls below the 5thpercentile
on a standardized growth chart; growth
measurements in addition to a persistent
deviation from an established growth curve is
generally a cause for concern.
Necrotizing Enterocolitis – is an inflammatory
disease of intestinal tract that occurs primarily in
premature infants.
Impact of Hospitalization, Clients with
Special Needs/Newborn Screening
Impact of Hospitalization (The Child and
Hospitalization)
Often, illness and hospitalization are the
first crises children must face. Especially during
the early years, children are particularly
vulnerable to these stressors because stress
represents a change from the usual state of
health and environmental routine, and children
have a limited number of coping mechanisms to
resolve stressors.
The major stress from middle infancy
throughout the preschool years, especially for
children ages 6 to 30 months, is separation
anxiety. During the stage of protest, children
react aggressively to the separation from the
parent.
Newborn Screening (NBS)
 Procedure to determine if the newborn
infant has a heritable congenital
metabolic disorder that may lead to
serious physical health complications,
mental retardation, and even death if left
undetected and untreated
Objectives of NBS
 Newborn has access to newborn
screening
 Sustainable newborn screening system
 All health practitioners are aware of the
advantages
 Parents recognize their responsibility
Newborn Screening Act of 2004 (RA 9288)
 Protect the rights of children to survival
and full and healthy development as
normal individuals
 Provide for a comprehensive, integrative
and sustainable national newborn
screening system to ensure that every
baby born in the Philippines is offered
the opportunity to undergo newborn
screening and be spared from heritable
conditions
Components of Comprehensive NBS System
 Education of relevant stakeholders
 Collection and biochemical screening of
blood samples taken from newborns
 Tracking and confirmatory testing to
ensure the accuracy of screening results
 Clinical evaluation and biochemical/
medical confirmation of test results
 Drugs and medical/ surgical
management and dietary
supplementation to address the heritable
conditions
 Evaluation activities to assess long term
outcome, patient compliance and quality
assurance
Performance of NBS
 Ideal time: 48 hours to 72 hours after
birth
 May also be done 24 hours after birth
 High risk newborn in NICU may be
exempted from the 3-day requirement
but must be tested by 7 days
 Note: (+) result, repeat test 14 days after
Blood Specimen Collection Procedure
 Puncture heel
 Lightly touch filter paper to LARGE
blood drop
 Dry the sample & send to the laboratory
Obligation of Healthcare Provider
 Parents and practitioners have joint
responsibility to ensure that NBS is
performed.
 Refusal of testing on grounds of
religious belief shall be written for
Heritable Conditions
Congenital Hypothyroidism
  Endocrine disorder also referred to as  Cyanosis
cretinism or dwarfism  Dyspnea
 Results from the absence or lack of  If not treated early, babies may die
development of thyroid gland causing within a few weeks
absence or lack of thyroxine needed for
Treatment
metabolism and growth of the body and
the brain;  Continued hormonal replacement of
 Is not initiated within 4 weeks HYDROCORTISONE
 The baby’s physical growth will be o Glucocorticoid replacement
stunted and he may suffer from therapy
irreversible mental retardation  Mineralocorticoid therapy (Salt-wasting
Untreated Congenital Hypothyroidism form)

 Jaundice
 Poor feeding
 Hypotonia
 Marcroglossia (large tongue)
 Large fontanelles, delayed closure
 Course facial features
 Mental retardation
 Short stature
Treatment
 Lifelong thyroid hormone replacement
therapy (as soon as possible after
diagnosis) as a single morning dose
 DOC: Synthetic Levothyroxine
(Synthroid, Proloidand Levothroid)
 If treatment started early: normal
physical growth and intelligence
Congenital Adrenal Hyperplasia
 An endocrine disorder caused by an
inborn defect in the biosynthesis of
adrenal cortisol that causes severe salt or
sodium losses, dehydration
abnormally high levels of male sex
hormones in both boys and girls
Symptoms
 Begin shortly after birth:
 Anorexia
 Progressive weight loss
 Vomiting
 Dehydration
 Disturbances in cardiac rate and rhythm
Phenylketonuria
 Inborn error of metabolism
characterized by lack of enzyme
phenylalanine hydroxylase (needed to
breakdown phenylalanine →elevated
serum phenylalanine →brain damage
and mental retardation
 Late physical signs reflect the absence
of adequate melanin pigment: blond
hair, fair skin and blue eyes
Therapeutic Management
 Restriction of dietary protein
 Maintain safe range of phenylalanine(2-
8mg/dl)
 Brain damage: 11-15mg/dl
 Meet child optimum level for growth
 Special milk substitute + tyroxine
 + Breastmilk-low protein
 Low phenylalanine diet throughout life
 93% Mental retardation, 72%
Microcephaly
and  No high protein and dairy products
 Pregnant mother should be placed in
low phenylalanine diet
Galactosemia
 Type 1: defiant Galactokinase
→inability to convert galactose to
glucose →galactosemia →galactosuria
o Complications: mental
deficiency, cataracts and death
 o Dietary treatment: galactose-
free diet (galactose: high in milk
and milk products)
 Type 2: “Classic” galactosemia–Serious
deficiency of Uridyl Transferase
o Early symptoms: jaundice,
vomiting, enlarged liver and
spleen hypoglycemia,
convulsions and feeding
difficulties
o Complications: liver cirrhosis,
and irreversible mental
retardation
o Dietary treatment: exclusion of
galactose from the diet to
prevent severe liver cirrhosis,
mental retardation, cataracts and
recurrent hypoglycemia
Glucose 6 Phosphate Dehydrogenase (GGPD)
Deficiency
 Inherited in an autosomal recessive
pattern (inherit two mutated genes, one
from each parent)
 Symptoms: Distinctive sweet odor of
infant’s urine, poor feeding, vomiting,
lack of energy (lethargy), and
developmental delay.
o If untreated, will lead to
seizures, coma, and death.
Treatment
 Protein-free diet;
 Infants have a diet formula with low
levels of the amino acids-leucine,
isoleucine, and valine;
 IV administration of amino acids that
don’t contain branched-chain amino
acids, combined with glucose for extra
calories;
Standard 6-Test

 Deficiency in G6PD
 Red blood cells lack protection from the
harmful effects of oxidative substances
found in drugs, foods, beverage
 Severe anemia and hyperbilirubinemia
→ kernicterus (jaundice of the brain)
and mental retardation, convulsion,
coma and even death
 Without G6PD, RBC’s undergo
HEMOLYSIS when exposed to
oxidative stress!
Oxidative Agents Leading to Hemolysis in
G6PD Deficiency
Expanded NBS
 •Drugs–Sulfonamides, quinolones,
chloramphenicol, Vitamin K
 Chemicals–Mothball
 Food–Fava beans
 Infection
Maple Syrup Urine Disease (MSUD)
 An inherited disorder in which the body
is unable to process certain protein
building blocks (amino acids) properly.
 Newborn Hearing Screening
 Designed to identify hearing loss in
infants shortly after birth.
 Done prior to discharge from the
hospital or birthing clinics
 Methods: Auditory brainstem response
(ABR) evaluation–Otoacoustic emission
Clinical Manifestations at Birth (OAE)
 Two different tests can be used to screen
for hearing loss in newborns.
 Both tests are quick (5-10 minutes), safe
and comfortable with no activity
required from the newborn.
RA 9709 “Universal Newborn Hearing and
Intervention Act of 2009”
 An act establishing a universal newborn
hearing screening program for the
prevention, early diagnosis and
intervention of hearing loss.
When do typical signs and symptoms appear?
Universal Newborn Hearing Screening
Program (UNHSP)
 Ensure all newborns have access to
hearing loss screening
 Establish a network among pertinent
government and private sector
stakeholders for policy development,
implementation, monitoring, and
evaluation to promote UNHSP.
 Provide continuing capacity building
 Establish and maintain a newborn
hearing screening database
Treatment
 Ensures linkages to diagnosis and the
community system of early intervention
services
 Develop public policy in early hearing
detection
 Develop models which ensure effective
screening, referral and linkage with
appropriate diagnostic, medical, and
qualified early intervention services,
providers, and programs within the
community
Newborn Hearing Screening
Otoacoustic Emissions (OAE) Test
 Used to determine if certain parts of the
newborn’s ear respond to sound.
 During the test, a miniature earphone
and microphone are placed in the ear
and sounds are played. When a newborn
has normal hearing, an echo is reflected
back into the ear canal, which can be
measured by the microphone. If no echo
is detected, it can indicate hearing loss.
Auditory Brain Stem Response (ABR) Test
 Used to evaluate the auditory brain stem
and the brain’s response to sound.
 During the test, miniature earphones are
placed in the ear and sounds are played.
Band-Aid-like electrodes are placed
along the newborn’s head to detect the
brain’s response to the sounds. If the
newborn’s brain does not respond
consistently to the sounds, there may be
a hearing problem.
Terminologies
Congenital Hypothyroidism - is a disorder in
which levels of active thyroid hormones are
decreased.
Galactosemia - a disorder of carbohydrate
metabolism, has an autosomal recessive
inheritance pattern.
Newborn Screening - is a procedure that
determine if the newborn infant has a heritable
congenital metabolic disorder that may lead to
serious physical health complications, mental
retardation, and even death if left undetected and
untreated.
Phenylketonuria (PKU) - is an autosomal
recessive inherited disorder of amino acid
metabolism that affects the body’s use of
protein.