PHYSICAL AND DEVELOPMENTAL DISORDERS OF THE GASTROINTESTINAL SYSTEM

 Many of the most common congenital anomalies involve the gastrointestinal system because
the gastrointestinal tract forms first as a solid tube, then undergoes canalization.
 If this canalization does not occur, a partial or complete blockage or obstruction can occur.
 Other disorders of the tract, such as cleft lip and cleft palate, are the result of midline closure
failure extremely early in intrauterine life.

1. Ankyloglossia (Tongue-Tie)
 Ankyloglossia is an abnormal restriction of the tongue caused by an abnormally tight
frenulum
 Frenulum- the membrane attached to the lower anterior tip of the tongue .
o -Normally, in newborns, the frenulum appears short and is positioned near the
tip of the tongue. As the anterior portion of the infant’s tongue grows, the
frenulum becomes located farther back.
 In most instances, therefore, an infant suspected of being tongue-tied has a normal
tongue at birth; it just seems short to parents who are unaware of a newborn’s
appearance.
 This condition rarely causes speech difficulty or destructive pressure on gingival tissue

2. Thyroglossal Cyst
 A thyroglossal cyst arises from an embryogenic fault that leaves a cyst formed at the
base of the tongue, which then drains through a fistula (opening) to the anterior
surface of the neck.
 This condition may occur as a dominantly inherited trait.
 The cyst may involve the hyoid bone (the bone at the anterior surface of the neck at
the root of the tongue) or may contain aberrant thyroid gland tissue.
 As the cyst fills with fluid, swelling and obstruction can lead to respiratory difficulty
from pressure on the trachea.
 If infected, the cyst appears swollen and reddened, with drainage of mucus or pus from
the anterior neck.
 The cyst is surgically removed to avoid future infection of the space or, if thyroid tissue
is present, the possibility of developing thyroid carcinoma later in life.
 Position infants on their sides so secretions drain freely from their mouths.
 Intravenous fluid therapy is given after surgery until the edema at the incision recedes
somewhat and swallowing is safe once more (approximately 24 hours).
 Observe infants closely the first time they take fluid orally to be certain they do not
aspirate.
  Be certain parents feed their infant before the infant is discharged from the surgical
unit so they can see that the infant is swallowing safely. This is important to help them
develop confidence in themselves as parents and their ability to feed the infant at
home in a relaxed and comfortable way.

3. Cleft Lip and Palate

The maxillary and median nasal processes normally fuse between weeks 5 and 8 of intrauterine life.

 In infants with cleft lip, the fusion fails to occur in varying degrees, causing this disorder to range
from a small notch in the upper lip to total separation of the lip and facial structure up into the
floor of the nose, with even the upper teeth and gingiva absent.
 The deviation may be unilateral or bilateral.
 The nose is generally flattened because the incomplete fusion of the upper lip has allowed it to
expand in a horizontal dimension .
 Cleft lip is more prevalent among boys than girls.
 It occurs at a rate of approximately 1 in every 750 live births.
 Cleft lip occurs as a familial tendency or most likely occurs from the transmission of multiple
genes.
 Formation may be aided by teratogenic factors present during weeks 5 to 8 of intrauterine life,
such as a viral infection or possibly a deficiency of folic acid.
 Parents of a child with a cleft lip should be referred for genetic counseling to ensure they
understand that they have about a 4% chance of having another child with a cleft lip or palate or
future children are at a greater risk than usual for this problem.
 The palatal process closes at approximately weeks 9 to 12 of intrauterine life.
 Assessment Cleft lip may be detected by a sonogram while an infant is in utero. If not detected
then, it is readily apparent on inspection at birth

 A cleft palate, an opening of the palate, is usually on the midline and may involve the anterior
hard palate, the posterior soft palate, or both.
 Like cleft lip, it appears to be the result of polygenic inheritance or environmental influences.
 In connection with cleft lip, the incidence is approximately 1 in every 1000 births.
 As a single entity, it occurs in approximately 1 in every 2000 births (Hoffman, 2008).
 Cleft palate can be determined by depressing the newborn’s tongue with a tongue blade. This
reveals the total palate and the extent of any cleft present. Be sure to have good lighting to
visualize the palate clearly.
 Because cleft palate is a component of many syndromes, a child with a cleft palate must be
assessed for other congenital anomalies.

Therapeutic Management
  If a cleft lip is discovered while the infant is still in utero, fetal surgery can repair the condition,
although this procedure is not usually attempted.
 If the disorder is not discovered until birth, a cleft lip is repaired surgically shortly thereafter,
often at the time of the initial hospital stay or between 2 and 10 weeks of age.
 Some infants may have a nasal mold apparatus applied before surgery to shape a better nostril.
 facial contours change as a child grows, a revision of the original repair or a nasal rhinoplasty to
straighten a deviated nasal septum may be necessary when the child reaches 4 to 6 years of age.
 The optimal time for repair of cleft palate is controversial as early repair increases speech
development but may result in a necessary second-stage repair as the child’s palate arch grows.
 A two-stage palate repair, with soft palate repair at 3 to 6 months of age and hard palate repair
at 15 to 18 months of age, may be recommended.
 The word “harelip” tends to be associated with these negative outcomes rather than with the
current positive outlook
 Follow-up treatment by a pedodontist, or a dentist skilled in children’s dental problems,

The best feeding method for the child with cleft lip may be to support the baby in an upright position
and feed the infant gently using a commercial cleft lip nipple.

A Breck feeder, an apparatus similar to a bulb syringe, or a Haberman feeder may also be used.

If the surgical repair will be done immediately, the mother will be able to breastfeed as early as 7 to 10
days after surgery.

Postoperative Period.

 After surgery for cleft lip or palate, an infant is kept NPO for approximately 4 hours.
 The infant is then introduced to liquids (plain water). Begin the process with only a small
amount to prevent vomiting.
 It is important that no tension is placed on a lip suture line; avoiding tension helps keep the
sutures from pulling apart and leaving a large scar. Infant is usually fed using a specialized
feeder because this causes less suture line tension than bottle feeding or breastfeeding.
 After palate surgery, liquids are generally continued for the first 3 or 4 days, and then a soft diet
is followed until healing is complete.
 After a cleft palate repair, when children begin eating soft food, they should not use a spoon,
because they will invariably push it against the roof of the mouth and possibly disrupt suture.
 Be certain milk is not included in the first fluids offered because milk curds tend to adhere to the
suture line.
 After a feeding, offer the child clear water to rinse the suture line and keep it as clean as
possible.
 Because of the local edema that occurs after cleft lip or palate surgery, observe children closely
in the immediate postoperative period for respiratory distress.
 Before surgery, the infant with a cleft lip breathed through the mouth.
 After surgery, the infant now has to learn to breathe through the nose, possibly adding to
respiratory difficulty.
 Generally, however, this is not a problem because newborns normally are strict nose-
breathers.
 After cleft lip surgery, place infants on their side to allow mouth secretions to drain.
 Support them well so they do not turn onto their abdomen, as this could put pressure on the
suture line, possibly tearing
 Placing them in an infant bouncy chair is another possibility
 After cleft lip surgery, the suture line is held in close approximation by a Logan bar (a wire bow
taped to both cheeks) or an adhesive bandage such as a Band-Aid simulating a bar that brings
together the incision line but does not cover the incision.
 If possible, the infant does not cry, because crying increases tension on the sutures.
 The baby also will need to be bubbled well after a feeding because there is a tendency to
swallow more air than the average infant.
 Nothing hard or sharp must come in contact with a recent cleft suture line.
 Keep elbow restraints in place as necessary when no one is with them so they do not put their
fingers in their mouth and poke or pull at the sutures.
 If parents will be continuing to give an analgesic such as acetaminophen (Tylenol) after they
return home, be certain they are aware of the correct dosage and time schedule for
administration. Be sure they can demonstrate measures to protect the suture line at home until
healing is complete.
 Cleaning the suture line with sterile water, sterile saline, or 50% hydrogen peroxide in sterile
water used with sterile cotton-tipped applicators after every feeding or whenever the normal
serum that forms on suture lines accumulates.
 Use a smooth, gentle, rolling motion to apply the solution.
 Do not rub, because this can loosen sutures.
 If hydrogen peroxide is used, it will foam as it reacts with the protein particles at the suture line.
Rinse the area with sterile water afterward. Gently dry the suture line with a dry sterile
cottontipped applicator.
 As soon as the child’s sutures have been removed, the infant may be bottle fed (with an
ordinary bottle) or breastfed
 Logan bar is an apparatus that may be used to protect the surgical incision for a cleft lip repair,
myringotomy tubes may be inserted to drain middle ear fluid and help protect hearing.
 Developmental milestone of clearly articulated two-word sentences by age 2 years is met.
 Infants with a cleft palate will begin to make speech sounds at the normal time (age 2 months),
although their speech may be guttural and harsh. By 9 months, when other infants begin to say
meaningful words (“bye-bye,” “mama,” “dada”), assuming the cleft palate is still unrepaired,
speech sounds will be unclear.
 A child with a cleft palate can enunciate vowel sounds with the most clarity, so these are the
sounds a parent should encourage the child to voice. Words such as “me,” “they,” “no,”
 “mama,” “home,” “moon,” “rain,” “yell,” and “row” are words consisting largely of vowel
sounds and can be enunciated most clearly by the child before a cleft palate repair.
 The soft palate must function for the child to pronounce “p” and “b” sounds. If cleft palate
surgery is going to be delayed much past age 2 years (as might happen if the child has other
congenital anomalies, such as heart disease), a plastic prosthesis to cover the incomplete palate
may be prescribed. This allows the child to articulate more normally.
 A blowing motion is what is required to pronounce “p” and “b”).

4. Pierre Robin Syndrome

 The Pierre Robin syndrome (also called Pierre Robin sequence) is a triad of
micrognathia (small mandible), cleft palate, and glossoptosis (a tongue malpositioned
downward).
 It is an example of cleft palate occurring as only one part of a syndrome.
 It is rare, occurring only once in every 8500 births.
 Children may have associated disorders of congenital glaucoma, cataracts, or cardiac
disorders.
 Observe all infants with Pierre Robin syndrome carefully to be certain they are not
developing an airway obstruction.
 They may need frequent nasopharyngeal suctioning to remove unswallowed saliva.
 Beginning at birth, children with this syndrome are apt to have episodes in which they
have difficulty breathing because, as a result of their small jaws, their tongues are too
large for their mouths. This discrepancy causes the tongue to drop backward and
obstruct the airway. Obstruction is most likely to occur when the child is in a supine
position.
 NO infant with this syndrome should be placed in a supine position to sleep; they are in
grave danger of anoxia if left in this position.
 Use a sidelying position instead
 A gastrostomy tube or button may be inserted to relieve feeding difficulty.
 As the child grows older, the jaw will grow somewhat, although the mandible will always
be small. Growth, coupled with a repair of the cleft palate, will decrease the respiratory
problems.

5.Esophageal Atresias and Tracheoesophage Fistula

 Between weeks 4 and 8 of intrauterine life, the laryngotracheal groove develops into
the larynx, trachea, and beginninglung tissue: the esophageal lumen forms parallel to
this.
 A number of anomalies may occur if the trachea and esophagus are affected by some
teratogen that does not allow the two organs to separate but remain connected.
  Esophageal atresia is obstruction of the esophagus. It is the incomplete formation of the
esophageal lumen, resulting in the proximal (upper) esophagus a “blind pouch”.
 Tracheosophageal fistula occurs when an opening develops between the closed distal
(lower) esophagus and the trachea.
 Often a fistula (opening) occurs between the closed esophagus and the trachea.

The five usual types of esophageal atresia that occur are:

 The esophagus ends in a blind pouch; there is a tracheoesophageal fistula between the
distal part of the esophagus and the trachea
 The esophagus ends in a blind pouch; there is no connection to the trachea
 A fistula is present between an otherwise normal esophagus and
 The esophagus ends in a blind pouch. A fistula connects the blind pouch of the proximal
esophagus to the trachea
 There is a blind end portion of the esophagus. Fistulas are present between both widely
spaced segments of the esophagus and the trachea.

These are all serious disorders because during a feeding, milk can fill the blind esophagus and overflow
into the trachea, or a fistula can allow milk to enter the trachea, resulting in aspiration.

Assessment

 Tracheoesophageal atresia must be ruled out in any infant born to a woman with hydramnios
(excessive amniotic fluid).
 This is because Hydramnios occurs because, normally, a fetus swallows amniotic fluid during
intrauterine life.
 A fetus with a tracheoesophageal atresia cannot swallow, so the amount of amniotic fluid can
grow abnormally large.
 Many infants with tracheoesophageal fistula are born preterm because of the accompanying
hydramnios, compounding their original problem with immaturity.
 The infant needs to be examined carefully for other congenital anomalies that could have
occurred from the teratogenic effect at the same week in gestation, such as vertebral, anal,
cardiac, tracheoesophageal, renal, and limb anomalies (a VACTERL syndrome) (
 If not diagnosed in utero, diagnosing a child who has a tracheoesophageal fistula before the
infant is first fed is important. Otherwise, the infant will cough, become cyanotic, and have
obvious difficulty breathing as fluid is aspirated.
 Newborns who have so much mucus in their mouths that they appear to be blowing bubbles
should be suspected of having tracheoesophageal fistula.
 The condition can be diagnosed with certainty if a catheter cannot be passed through the
infant’s esophagus to the stomach or the stomach contents cannot be aspirated.
 If doing this, use a firm catheter because a soft one will curl in a blind-end esophagus and
appear to have passed.
 If a radiopaque catheter is used, it can be demonstrated coiled in the blind end of the
esophagus on radiography.
 A flat-plate radiograph of the abdomen or ultrasound also may reveal a stomach distended
with the air that is passing from the trachea into the esophagus and stomach.
 Either a barium swallow or a bronchial endoscopy examination can also reveal the blind-end
esophagus and fistula.

6. Omphalocele

 An omphalocele is a protrusion of abdominal contents through the abdominal wall at

the point of the junction of the umbilical cord and abdomen.
 The herniated organs are usually the intestines, but they may include stomach and liver.
 They are usually covered and contained by a thin transparent layer of amnion and
chorion with the umbilical cord protruding from the exposed sac.
 When the defect is less than 4 cm, it is termed a hernia of the umbilical cord
 Greater than 10 cm, it is a true omphalocele.
 This condition occurs because at approximately weeks 6 to 8 of intrauterine life, the
fetal abdominal contents, growing faster than the fetal abdomen, are extruded from the
abdomen into the base of the umbilical cord. At 7 to 10 weeks, when the abdomen has
enlarged sufficiently, the intestine returns to the abdomen.
 Omphalocele occurs when the abdominal contents fail to return in the usual way. The
occurrence is associated with chromosomal aberrations.

7. Gastroschisis

 Gastroschisis is a condition similar to omphalocele, except that the abdominal wall

disorder is a distance from the umbilicus, usually to the right, and abdominal organs are
not contained by a membrane but rather spill freely from the abdomen.
 Also, a greater amount of intestinal content tends to herniate, increasing the potential
for volvulus and obstruction.
 The condition occurs because of ischemia to blood vessels that supply the abdominal
wall during the first trimester of pregnancy.
 The care and surgical procedure are the same as those for omphalocele.
 Children with gastroschisis often have decreased bowel motility, and even after surgical
correction may have difficulty with absorption of nutrients and passage of stool.
 Long-term followup may be necessary to ensure that nutrition and elimination are
adequate.

8. Intestinal Obstruction
  If canalization of the intestine does not occur in utero at some point in the bowel, an
atresia (complete closure) or stenosis (narrowing) of the fetal bowel can develop.
 The most common site of this occurrence is in the duodenum.
 Obstruction may occur because the mesentery of the bowel twisted as the bowel re-
entered the abdomen (after being contained in the base of the umbilical cord early in
intrauterine life) or from looseness of the intestine in the abdomen after it has returned.
 This twisting pattern is termed a volvulus and continues to be a problem for the first 6
months of life until the infant develops firmer intestinal supports.
 Obstruction also can occur because of thicker-than-usual meconium formation, blocking
the lumen (meconium plug or meconium ileus).

9. Meconium Plug Syndrome

 A meconium plug is an extremely hard portion of meconium that has completely

blocked the intestinal lumen, causing bowel obstruction.
 The cause is unknown but probably reflects normal variations of meconium consistency.
 Meconium plugs usually form in the lower end of the bowel because this meconium
formed early in intrauterine life and has the best chance to become dry and obstruct the
bowel lumen.
 It may be associated with Hirschsprung’s disease and is strongly associated with cystic
fibrosis, Hypothyroidism, and magnesium sulphate administration .

Assessment

 Abdominal distention and vomiting may not occur for at least 24 hours.
 Had no meconium passage and is past 24 hours of age.
 A gentle rectal examination may reveal the presence of hardened stool, although the plug may
be too high up in the bowel to be palpated.
 A radiograph or sonogram may reveal distended air-filled loops of bowel up to the point of
obstruction.
 A slightly hypertonic water-soluble contrast agent enema not only may reveal the level of
obstruction but also may be therapeutic in loosening the plug.

10. Meconium Ileus

 Meconium ileus (obstruction of the intestinal lumen by hardened meconium) is a

specific phenomenon that occurs almost exclusively in infants with cystic fibrosis.
 It reflects extreme meconium plugging.
 A genetically recessive disease, with cystic fibrosis, the enzyme that moistens and makes
all body fluids free-flowing is absent.
 All body fluids are therefore thick and tenacious.
  Cystic fibrosis is most often thought of as a lung disorder, because the most severe
manifestation of tenacious secretions is in the lung; tenacious lung fluid leads to stasis
and infection and alveolar obstruction that reduces air exchange.
 Intestinal and pancreatic secretions are affected also, however, and this may be signaled
at birth by hardened obstructive meconium at the ileus level from lack of pancreatic
trypsin secretion (meconium ileus). This will lead to the usual symptoms of bowel
obstruction: no meconium passage, abdominal distention, and vomiting of bile-stained
fluid.
 If the obstruction is too high for enemas to reduce it, the bowel must be incised and the
hardened meconium removed by laparotomy. The infant must be further assessed for
cystic fibrosis in the following months.

11. Diaphragmatic Hernia

 A diaphragmatic hernia is a protrusion of an abdominal organ (usually the stomach or

intestine) through a defect in the diaphragm into the chest cavity.
 This usually occurs on the left side, causing cardiac displacement to the right side of the
chest and collapse of the left lung
 It occurs because early in intrauterine life, the chest and abdominal cavity are one; at
approximately week 8 of growth, the diaphragm forms to divide them. If the diaphragm
does not form completely, the intestines can herniate through the diaphragm opening
into the chest cavity.

12. Umbilical Hernia

 An umbilical hernia is a protrusion of a portion of the intestine through the umbilical

ring, muscle, and fascia surrounding the umbilical cord.
 This creates a bulging protrusion under the skin at the umbilicus.
 It is rarely noticeable at birth while the cord is still present but becomes increasingly
noticeable at health care visits during the first year.
 Umbilical hernias occur most frequently in African American children and more often in
girls than in boys.
 The structure is generally 1 to 2 cm (0.5 to 1 in) in diameter but may be as large as an
orange when children cry or strain.
 The size of the protruding mass is not as important as the size of the fascial ring through
which the intestine protrudes. If this fascial ring is less than 2 cm, closure will usually
occur spontaneously and no repair of the disorder will be necessary.
 If the disorder is more than 2 cm, surgery for repair will generally be indicated to
prevent herniation and intestinal obstruction or bowel strangulation.
  This usually is done when the child is 1 to 2 years of age.
 Some parents believe that holding an umbilical hernia in place by using “belly bands” or
taping a silver dollar over the area will help to reduce the hernia. These actions can
actually lead to bowel strangulation and should be avoided.
 Surgery is generally accomplished on an ambulatory outpatient basis. The child returns
from surgery with a pressure dressing, which remains in place until the sutures are well
healed.
 Remind parents to sponge-bathe the child until they return for a postoperative visit and
the dressing is removed.
 If the child is not yet toilet-trained, they need to keep diapers folded down below the
dressing to prevent contaminating the suture line with stool.

13. Imperforate Anus

 Imperforate anus is stricture of the anus.

 In week 7 of intrauterine life, the upper bowel elongates to pouch and combine with a
pouch invaginating from the perineum. These two sections of bowel meet, the
membranes between them are absorbed, and the bowel is then patent to the outside.
If this motion toward each other does not occur or if the membrane between the two
surfaces does not dissolve, imperforate anus occurs.
 The disorder can be relatively minor, requiring just surgical incision of the persistent
membrane, or much more severe, involving sections of the bowel that are many inches
apart with no anus.
 There may be an accompanying fistula to the bladder in boys and to the vagina in girls,
further complicating a surgical repair.
 More commonly in boys than in girls.
 Imperforate anus may occur as an additional complication of spinal cord disorders,
because both the external anal canal and the spinal cord arise from the same germ
tissue layer.