CHROMOSOMAL ABBERATIONS

Cognitive disability is a common feature

Can be detected prenatally through genetic
screening
DOWNS SYNDROME
Trisomy 21 (47XY21+ or 47XX21+)
Most frequently occurring chromosomal
abnormality
Incidence increases with advancing maternal
age
Prone to respiratory tract infections
Can be detected prenatally
1. Karyotyping (CVS or amniocentesis)
2. MSAFP/AFP
3. Prenatal ultrasound
Assessment:
1. head
a. mild microcephaly and brachycephaly
b. flat occiput with loose skin at the nape
2. eyes
a. Epicanthal fold
b. Palpebral fissure that slants upward
c. white specks on the iris (Brushfield spots)
3. flat facial profile - broad and flat nose
4. tongue protrudes because of smaller oral
cavity is and a slack jaw
5. low-set ears
6. neck is short
7. hypotonia
8. fingers are short and thick, little finger curved
inward
9. simian line
10. wide space between 1st and 2nd toes (sandal
gap)
11. low IQ
Associated Medical Conditions:
1. Eye problems (strabismus and cataract)
2. Hearing loss
3. Hypothyroidism
4. Atlantoaxial instability
5. heart disease
6. GI abnormalities (stenosis or atresia of
duodenum)
7. Leukemia
Management:
1. Genetic counseling
2. Thorough, systematic assessment of the
newborn
3. Early educational and play programs
4. Prevention of infection
5. Feed slowly to prevent choking
6. Parental counseling and support
UPPER GASTROINTESTINAL TRACT
DISORDERS
I. CLEFT LIP AND PALATE
Cleft Lip
Failure of the maxillary and median nasal
processes to fuse normally (due to viral

infection at 5-8 weeks AOG or folic acid

deficiency); unilateral or bilateral
Can range from a small notch in the upper lip
to total separation of the lip and facial
structure up into the nasal floor with upper
teeth and gingival absent
More common in boys and Asians; has a
familial tendency
Cleft Palate
Opening of the palate (9-12 weeks AOG)
Soft, hard or both
More common in boys
Management before surgery:
1. Support in upright position and feed with a
commercial cleft lip/palate nipple
Breck or Haberman feeder
Dropper feeding
Breastfeeding
Breastfeeding or bottlefeeding may not be
allowed prior to repair of cleft lip to
prevent local bruising of lip tissue teach
2. Bubble child well
3. Offer sips of water between feedings keep
mucous membranes moist and prevents
cracks and fissures (for infants with cleft lip,
especially if mouth breathing)
4. Offer soft food with no coarse particles to
avoid aspiration
5. Plastic palate guard (cleft palate)
Surgical Management:
Cleft Lip between 2 and 10 weeks of age;
revision at 4-6 years old; early repair prevents
malnutrition and allows child to experience
the pleasure of sucking
Cleft palate soft palate repair at 3-6 months;
hard palate repair at 15-18 months to prevent
speech defects
1. NPO 4 hours prior to procedure
2. Side-lying position after surgery
3. Liquid diet for 3-4 days after surgery avoid
milk
4. Avoid tension on the lip suture line
a. Use specialized feeder
b. Logan bar
c. Prevent crying
5. Dont use spoon for feeding (cleft palate
6. Offer clean water after feeding to rinse suture
line (cleft palate)
7. Adequate pain control
8. No straw, no sharp objects in the mouth
9. Apply elbow restraints
10. Good wound care to decrease scarring
Complications:
1. Poor nutrition due to inability to maintain
effective suction when feeding
2. Frequent respiratory infections due to
aspiration
3. Scarring
4. Nasal deformities

Handout by ARLENE JOY D. BAGYAN-MADINO, for personal use only.

5. Speech impairment
6. Otitis media
II. ESOPHAGEAL ATRESIA AND
TRACHEOESOPHAGEAL FISTULA
EA congenitally interrupted esophagus which
often occurs with a fistula between the
esophagus and the trachea
TEF opening between the esophagus and
trachea
Cause is unknown, associated with exposure
to teratogens at 4-8 weeks AOG
Suspect if with hydramnios during pregnancy
Primary problem is aspiration
Assessment:
1. Excessive oral mucus secretions at birth
2. Cough, cyanosis or difficulty breathing during
feeding
3. OGT/NGT cant pass through esophagus
4. No stomach contents can be aspirated
5. Dx tests x-ray, barium swallow or bronchial
endoscopy
Management:
1. NPO IVF, TPN
2. Gastrostomy tube - initially to keep stomach
empty of secretions and prevent reflux into
the lungs; can be used for feeding
NR:
3. Offer pacifier for sucking and to prevent
crying
4. Position upright or right side-lying to prevent
gastric fluid from entering the lungs
5. frequent oropharyngeal suctioning
6. surgery close fistula; anastomosis ends of
the esophagus
a. anticipate chest tubes since thorax is
entered
b. observe closely especially 7-10 days postop when sutures start to dissolve; suture
line can open which can lead to fluid and
air leaking into the chest cavity
III. PYLORIC STENOSIS
hypertrophy or hyperplasia of the muscle
surrounding the pyloric sphincter
Assessment:
1. projectile vomiting immediately after each
feeding starting at 4-6 weeks of life
o hungry after vomiting
o vomitus is sour, non-bilious
2. s/s of dehydration and electrolyte imbalance
3. firm, round, olive sized mass at the RUQ
4. left to right wave like contractions on the
abdomen soon after feeding and before
vomiting
5. constipation
6. poor weight gain or weight loss
7. dx tests x-ray, UTZ
Management:
1. NPO IVF, TPN, pacifier
2. Correction of dehydration and electrolyte
imbalance

3. Pyloromyotomy lay infant on right side

LOWER GASTROINTESTINAL TRACT
DISORDERS
I. INTUSSUSCEPTION
Invagination of one portion of the intestine
into another
Common for 6-12 months old
Common area: distal ileum goes into proximal
colon
Fatal in 2-5 days if left untreated
Assessment:
1. Sudden, intense abdominal pain
Child pulls legs up and cries
Stops, then returns after 15 minutes
2. Vomiting bilious, with blood
3. Currant jelly stools after 12 hours
4. Abdominal distention with tenderness
(guarding)
5. Sausage-shaped mass at the right upper
quadrant
Management:
1. Barium enema both diagnostic and
therapeutic
2. Surgical reduction
II. VOLVULUS
Twisting of the intestine
Assessment:
1. s/s of intestinal obstruction
2. palpable abdominal mass
Management: surgery
III. HIRSCHPRUNGS DISEASE
aka AGANGLIONIC MEGACOLON
absence of ganglionic innervations to the
muscle section of the bowel common in the
lower portion of the sigmoid colon just above
the anus
signs and symptoms are apparent at 6-12
months of age
Assessment:
1. no passage of meconium in 24 hours
2. abdominal distention
3. chronic constipation with ribbon like stools
4. dx tests barium enema, biopsy
Management: surgery
1. Anastomosis
2. colostomy
IV. IMPERFORATE ANUS
opening to the anus is missing or blocked by a
membrane
can be accompanied by a fistula to the
bladder or vagina
Assessment:
1. visual inspection
2. catheter cannot be inserted rectally
3. no passage of meconium for 24 hours
4. abdominal distention
5. urinalysis reveals meconium

Handout by ARLENE JOY D. BAGYAN-MADINO, for personal use only.

6. passage of stool through the vagina

Management:
1. NPO IVF, TPN
2. NGT/OGT for drainage
3. Surgery within the neonatal period
Anastomosis
Colostomy with second stage repair at 612 months
Repair of fistula
a. Nothing per rectum
b. Stool softeners
c. Wound care, clean stools immediately
d. Dont place infant on prone
e. Rectal dilatation
OTHER GASTROINTESTINAL TRACT
DISORDERS
I. OMPHALOCELE
herniation of abdominal contents through the
abdominal wall at the point of the junction of
the umbilical cord and abdomen
abdominal contents are covered by a thin
transparent layer of amnion and chorion
caused by exposure to teratogens at 7-10
weeks AOG
called an umbilical hernia if defect is less than
4 cm
detectable through prenatal ultrasound,
MSAFP
Management:
1. keep sac moist with gauze soaked with sterile
NSS warmed to body temperature or a sterile
plastic bowel bag until surgery
2. NGT to prevent intestinal distention
3. NPO IVF, TPN, no pacifier
4. Warm incubator
5. surgery within 24 hours of life
replace all bowel contents
replace of the bowel, place the rest in a
silo and suspend over the newborn;
gradually replaced over 5-7 days
II. GASTROSCHISIS
abdominal contents herniated through a
defect beside the umbilicus
abdominal organs not covered by a
membrane
management the same with omphalocele
ENDOCRINE DISORDERS
I. TYPE 1 DIABETES MILLETUS
absolute or relative deficiency of insulin
onset at 5-7 years old or at puberty
cardinal signs
hyperglycemia
polyuria
polydipsia
Assessment:
1. weight loss

2. ketoacidosis
3. s/s of dehydration
4. electrolyte imbalance - K and phosphate
5. short stature
Management:
1. Insulin injection
NR:
where to inject (sites, rotation of sites)
how to inject (angle)
complications lipodystrophy,
hypo/hyperglycemia
types of insulin

2. nutrition balanced diet; low in simple

sugars; high fiber; 3 main meals and 3 snacks
3. exercise daily exercise; no restrictions;
considerations when engaging in vigorous
exercise
4. stress management
5. blood sugar monitoring and urine ketone
monitoring
6. prevention and management of hypoglycemia
orange juice, soda, hard candy, corn
syrup, honey, sugar, glucagon
II. CONGENITAL HYPOTHYROIDISM
cause is unknown; can result if woman is
hyperthyroid during pregnancy
symptoms become apparent at 3-6 months of
age
causes progressive physical and cognitive
challenges
Assessment:
1. failure to pass out meconium in 24 hours
2. excessive sleeping and hypotonia
3. enlarged tongue leads to respiratory
difficulty, noisy respirations or obstruction;
child has a constant open mouth
4. poor suck
5. extremities feel cold, subnormal body
temperature
6. prolonged jaundice
7. short and thick neck, short and fat extremities
8. dull facial expression
9. DTR
10. Brittle and dry hair
11. Delayed dentition
12. Constipation
Management:
1. Early detection
2. Oral synthetic thyroid hormone

Handout by ARLENE JOY D. BAGYAN-MADINO, for personal use only.

3. Vitamin D supplement
GENITOURINARY DISORDERS
I. ACUTE GLOMERULONEPHTRITIS
inflammation of the glomeruli that occurs as a
n immune complex disease after infection
with group A beta-hemolytic streptococci
happens 1-2 weeks after throat infection, 2-4
weeks after skin infection
may develop to chronic glomerulonephritis
disease causes ischemic changes and
increased glomerular permeability
follows a 1-2 week course of disease
Assessment: sudden onset of s/s
1. gross hematuria
2. mild proteinuria urinalysis reveals +1 to +4
CHON; 24 hour urine reveals 1 g of CHON
NR for 24 Hour Urine Collection:
materials
when to start
when to end
3. oliguria
4. mild edema
5. heart failure
6. hypertension that can lead to encephalopathy
is BP reaches 160/100 (s/s: headache,
irritability, lethargy seizures, vomiting, coma)
7. mild anemia
8. ESR and ASO titer
9. urea, BUN creatinine
Management:
1. Management of heart failure
2. Anti-hypertensives
3. Quiet play activities
4. Normal diet
5. Daily weights
6. I and O monitoring
II. NEPHROTIC SYNDROME
Altered glomerular permeability due to fusion
of glomerular membranes
Autoimmune
Characterized by 4 signs:
Proteinuria (15 g in 24 hour urine collection)
Hypoalbuminemia
Edema
Hyperlipidemia
Assessment: insidious
1. Massive edema
Skin breakdown
DOB
Anorexia, vomiting and diarrhea
2. Malnutrition
3. Hypotension
Management:
1. Corticosteroids until (-) proteinuria
NR for steroid administration:
2. IV albumin followed by diuretics
3. CHON, Na diet, fluid restriction
4. Daily weights

5. I and O monitoring
6. Prevention of skin breakdown
7. K supplements
MUSKULOSKELETAL DISORDERS
I. FINGER AND TOE CONDITIONS
occurs as a separate entity or part of a
syndrome
Polydactyly
presence of 1 or more additional fingers/toes
management: disarticulation
Syndactyly
fusion of 2 or more fingers/toes
simple if it involves only the soft tissue
complex if it involves bone or nails of adjacent
digits
Oligodactyly
fewer than 5 fingers/toes in an extremity
II. CONGENITAL/DEVELOPMENTAL HIP
DYSPLASIA
improper formation and function of the hip
socket, where the head of the femur is outside
the acetabulum
Types:
1. subluxated more common; femur rides up
due to a flattened acetabulum
2. dislocated femur is outside of the
acetabulum
Assessment:
1. affected leg is shorter (Galeazzi sign)
2. unequal number of skin folds on posterior
thighs
3. Ortolanis sign clicking sound as hips are
abducted
4. Barlows sign head of femur slips out of
acetabulum as hips are adducted
5. Child limps when walking
Management:
1. Hips are flexed and abducted
a. Multiple diapers
b. Carry child straddling hips
c. Pavlik harness chest halter ; worn
continuously except when bathing
d. Frejka splint
e. Spica casting maintained for 6-9 months
NR: assess neurovascular status
2. Surgery
III. TALIPES DISORDERS
ankle-foot disorders; clubfoot
foot cannot be properly aligned with
manipulation
Types:
1. plantarflexion (equinos)
2. foot turned in (varus)
equinovarus
3. dosiflexion (calcaneous)
4. foot turned out (valgus)
calcaneovalgus
Management:

Handout by ARLENE JOY D. BAGYAN-MADINO, for personal use only.

1. serial casting (Ponseti method)

o casting until above the knees
o start immediately (7-10 days old)
o cast changed every 1-2 weeks
o change diapers to avoid cast from getting
wet
o assess neurovascular status
2. passive foot exercises
3. Denis Browne splints or high-top shoes at
night
4. surgery
Complications:
1. difference in shoe size
2. leg length asymmetry
IV. SCOLIOSIS
lateral curvature of the spine
Types:
1. Functional Scoliosis
Compensatory mechanism in children with
unequal leg length, ocular refractive errors
that cause them to constantly tilt their head
sideways, or children with neuromuscular
disorders such as CP
C shaped
Management:
Shoe insert to correct leg length
Correct ocular refractive disorder
Good posture
Exercise sit-ups, push-ups, swimming, ballet
2. structural scoliosis
permanent damage to the spine accompanied
by damage to the vertebrae
primary lateral curve (thoracic) with a
compensatory secondary curve
S shaped
Spinal curves become more severe as the
child grows; continues until child reaches
skeletal maturity
Uneven shoulders; unequal length of bra
straps; ill fitting jeans or dresses
Management:
1. Bracing used if child is skeletally immature
NR:
Instruct to wear 23 hours/day
Worn over a light shirt
Should be tight
Check for skin breakdown
2. Halo traction
3. Spinal surgery
NOTE: PLEASE REVIEW DISORDERS UNDER
NEWBORN SCREENING AND OTHER
METABOLIC DISORDERS DISCUSSED UNDER
NUTRITION

Handout by ARLENE JOY D. BAGYAN-MADINO, for personal use only.