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A CASE ANALYSIS OF

COMMON HEALTH PROBLEMS THAT DEVELOP DURING PREGNANCY

In Partial Fulfillment

Of the Requirements in the Subject:

NCM 109

Care for the Mother, Child at Risk or with Problems

(Acute and Chronic)

Submitted to:

Girlie De Luna Tayao, MAN, RN

Instructor

Submitted by:

Pangilinan, Shane G.

BSN 2-E

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TABLE OF CONTENTS

COMMON HEALTH PROBLEMS THAT DEVELOP DURING PREGNANCY

I. Intussusception

II. Failure to Thrive

III. Colic

IV. Cleft and Lip Palate

V. Imperforated Anus

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INTUSSUSCEPTION

A. DEFINITION

An intussusception (a blockage of the intestine) is a medical condition in which a part of the small

intestine has invaginated into another section of intestine, similar to the way in which the parts of a

collapsible telescope slide into one another. The part which prolapses into the other is called the

intussusceptum, and the part which receives it is called the intussuscipiens. This generally occurs in

the second half of the first year of a child’s life.

B. RISK FACTORS

Risk factors for intussusceptions include:

Age. Children are much more likely to develop intussusception than adults are. It's the most

common cause of bowel obstruction in children between the ages of 3 months and 6 years, with

the majority of cases occurring in children younger than 1 year.

Sex. Intussusception affects boys more often than girls.

Abnormal intestinal formation at birth. Malrotation, a condition present at birth (congenital) in

which the intestine doesn't develop correctly, also is a risk factor for intussusception.

A prior history of intussusception. Once you've had intussusception, you're at increased risk to

develop it again.
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C. CLINICAL MANIFESTATION

In typical cases, there is sudden onset, in a previously well child, of severe paroxysmal colicky pain

that recurs at frequent intervals and is accompanied by straining efforts with legs and knees flexed

and loud cries. The infant may initially be comfortable and play normally between the paroxysms of

pain; but if the intussusception is not reduced, the infant becomes progressively weaker and lethargic.

At times, the lethargy is out of proportion to the abdominal signs. Eventually, a shock like state, with

fever, can develop. The pulse becomes weak and thready, the respirations become shallow and

grunting, and the pain may be manifested only by moaning sounds. Vomiting occurs in most cases and

is usually more frequent in the early phase. In the later phase, the vomitus becomes bile stained.

Stools of normal appearance may be evacuated in the 1st few hours of symptoms. After this time, fecal

excretions are small or more often do not occur, and little or no flatus is passed. Blood is generally

passed in the 1st 12 hr., but at times not for 1-2 days, and infrequently not at all; 60% of infants pass a

stool containing red blood and mucus, the currant jelly stool. Some patients have only irritability and

alternating or progressive lethargy. The classic triad of pain, a palpable sausage-shaped abdominal

mass, and bloody or currant jelly stool is seen in <15% of patients with intussusception.

Palpation of the abdomen usually reveals a slightly tender sausage-shaped mass, sometimes ill

defined, which might increase in size and firmness during a paroxysm of pain and is most often in the

right upper abdomen, with its long axis cephalocaudal. If it is felt in the epigastrium, the long axis is

transverse. About 30% of patients do not have a palpable mass. The presence of bloody mucus on

rectal examination supports the diagnosis of intussusception. Abdominal distention and tenderness

develop as intestinal obstruction becomes more acute. On rare occasions, the advancing intestine
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prolapses through the anus. This prolapse can be distinguished from prolapse of the rectum by the

separation between the protruding intestine and the rectal wall, which does not exist in prolapse of

the rectum.

Ileoileal intussusception can have a less-typical clinical picture, the symptoms and signs being

chiefly those of small intestinal obstruction. Recurrent intussusception is noted in 5-8% and is more

common after hydrostatic than surgical reduction. Chronic intussusception, in which the symptoms

exist in milder form at recurrent intervals, is more likely to occur with or after acute enteritis and can

arise in older children as well as in infants.

D. SIGNS AND SYMPTOMS

Early symptoms can include nausea, vomiting - sometimes bile stained (green colour), pulling legs

to the chest area, and intermittent moderate to severe cramping abdominal pain. Later signs include

rectal bleeding, often with red currant jelly stool (stool mixed with blood and mucus), and lethargy.

Physical examination may reveal a sausage-shaped mass felt upon palpation of the abdomen.

Infants are too young to communicate their symptoms verbally, they may cry, draw their knees up

to their chest or experience dyspnea (difficult or painful breathing) with paroxysms of pain.

Fever is not a symptom of intussusception. However, intussusception can cause a loop of bowel to

become necrotic. This leads to perforation and sepsis, which causes fever.

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E. PATHOPHYSIOLOGY

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There are several predisposing and precipitating factors that lead to the development of illness. In

the case the of intussusception, the precipitating factors are abnormal intestinal formation at birth

and a prior history of intussusception.

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It has been observed that the prevalence of intussusception is common in infants. On the other

hand, the predisposing factors are age and gender. Intussusception occurs 70% in infants before 2

years of age and is two to three times more common to males than in females.

Intussusception is the telescoping or invagination of one portion of the intestine into another.

Usually, the ileum invaginates the cecum and part of the ascending colon by collapsing through the

ileocecal valve.

Area of the intestine invaginates into the lumen of adjacent bowel (intussusceptum) and

completely “telescopes” into the receiving portion of the intestine (intussuscipiens) these signs and

symptoms may be present: Colicky pain, nausea and vomiting, bowel distention, malaise, “currant

jelly” stool and tender, sausage-shaped abdominal mass.

Invagination can be diagnosed by performing x-ray, ultrasound, CT scan and barium enema. And

can be managed by performing a surgical reduction or hydrostatic reduction and a temporary

ileostomy.

If intussusceptum proceeds to the distal colon or sigmoid and prolapsed into the anus, severe

bleeding may occur and can cause hypervolemia.

Obstruction may also occur if there are intussusceptions and if there is obstruction, there would be

retention of particulate materials. As the body tries to compensate, peristalsis temporarily increases

in attempt to force contents past obstruction. Distention also increases at and above the site.

Obstruction may also a cause of compression of the veins and lymphatic vessels and lead to Impeded

lymphatic return and venous drainage. These would cause an inflammation of the region.

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If there is inflammation, arterial inflow is inhibited leading to ischemia and erosion of mucosal lining

occurs and furthered to transmural gangrene, then eventually perforation and then to sepsis.

Obstruction prevents the absorption of fluids into the bloodstream that causes dehydration and

dehydration causes decreased in blood flow and then cause hypervolemia.

If the condition is treated, there would be convalescence. But if treatment is not given, this

condition would lead to death.

F. NURSING CARE

 Monitor I.V. fluids and intake and output to guide in fluid balance.

 Be alert for respiratory distress due to abdominal distention.

 Monitor vital signs, urine output, pain, distention, and general behavior preoperatively and

postoperatively.

 Observe infant’s behavior as indicator of pain; may be irritable and very sensitive to

handling or lethargic or unresponsive. Handle the infant gently.

 Explain cause of pain to parents and reassure them about purpose of diagnostic tests and

treatments.

 Administer analgesic as prescribed.

 Maintain NPO status as ordered.

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 Insert nasogastric tube if ordered to decompress stomach.

 Continually reassess condition because increased pain and bloody stools may indicate

perforation.

 After reduction by hydrostatic enema, monitor vital signs and general condition – especially

abdominal tenderness, bowel sounds, lethargy, and tolerance to fluids – to watch

recurrence.

 Encourage follow up care.

 Provide anticipatory guidance for developmental age of child.

G. PHARMACOLOGICAL MANAGEMENT

Drug therapy is not currently a component of the standard of care for intussusception. Medications

are limited to those used for pain control after surgery. In the immediate postoperative period,

weight-adjusted intravenous morphine is usually administered. As the oral diet is resumed,

acetaminophen with codeine or ibuprofen is given orally.

Patients with HSP or hemophilia and intussusception require standard therapy for the individual

disease. Some investigators have advocated the use of steroids in intussusception secondary to HSP

and lymphoid hyperplasia, with varied results.

Opioid Analgesics

Class Summary

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Opioid analgesics are used to control acute crisis and chronic pain.

Morphine sulfate (Duramorph, Astramorph, MS Contin, Avinza, Kadian)

An opioid analgesic, morphine interacts with endorphin receptors in the CNS.

Acetaminophen with codeine (Tylenol-3)

This is a mild narcotic analgesic. Provide the family with a small supply for use when pain severity is

greater than what can be managed with acetaminophen alone. Counsel parents to use only for severe

pain, not as the first medication for each symptom.

Nonsteroidal Anti-Inflammatory Drugs

Class Summary

These agents add to the effects of opioids during painful crises and allow use of lower doses of

narcotics.

Ibuprofen (Advil, Motrin)

Ibuprofen is usually the drug of choice for the treatment of mild to moderate pain, if no
contraindications exist. It inhibits inflammatory reactions and pain by decreasing the activity of the
enzyme cyclo-oxygenase, resulting in inhibition of prostaglandin synthesis.

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H. MEDICAL AND SURGICAL MANAGEMENT

Nonoperative reduction

Therapeutic enemas include the following:

• Hydrostatic: With barium or water-soluble contrast

• Pneumatic: With air insufflation; this is the treatment of choice in many institutions, and the risk of

major complications with this technique is small

Surgical reduction

Traditional entry into the abdomen is through a right paraumbilical incision. The intussusception is

delivered into the wound, and manual reduction is attempted. It is important that the intussusception

be milked out of the intussuscipiens.

If manual reduction is not possible or perforation is present, a segmental resection with an end-to-end

anastomosis is performed.

Laparoscopy has been added to the surgical armamentarium for intussusception [2, 3] and can be

performed in all cases of intussusception.

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QUESTIONS

1. A 2-year-old is hospitalized with suspected intussusception. Which finding is associated with

intussusception?

a. “Ribbon-like” stools

b. “Currant jelly” stools

c. Palpable mass over the flank

d. Projectile vomiting

2. What age group are more likely to develop intussusception?

a. Children aged 5-10 months

b. Children aged 1-2 years

c. Children 3 months and 6 years

d. Adults aged 18-25 years

3. Which of the following are considered the hallmark physical findings in intussusception?

a. Occult blood in the stools and peritonitis

b. Right hypochondrium sausage-shaped mass and emptiness in the right lower quadrant

c. Frank hematochezia and currant jelly stools

d. Abdominal distention, fever, and leukocytosis

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I. REFERENCES

Alavazo, R.A., (2009, April 12) Intussusception. Retrieved from

https://www.scribd.com/document/14164992/INTUSSUSCEPTION

Derek, M. (2014, February 12) intususepcion. Retrieved from (2014, February 12’) Retrieved from

https://www.scribd.com/document/206585009/intususepcion

Gabano, P.J. (2011, July 26) Patho-Intussusception. Retrieved from

https://www.scribd.com/document/61002340/Patho-Intussusception-Revised

Kennedy, M. & Liacouras, C. (2014, July 7) Intussusception. Retrieved from

https://www.scribd.com/document/232840204/Intussusception

Ladia, H.T. (2011, February 13) INTUSSUSCEPTION. Retrieved from

https://www.scribd.com/document/48730727/INTUSSUSCEPTION

Ocampo, E. (2012, February 15) About Intussusception. Retrieved from

https://www.scribd.com/document/81665793-About-Intussusception

Stanford, V. (2015, March 28). Intussusception Retrieved from

https://www.scribd.com/document/266960641/Intussusception

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FAILURE TO THRIVE

A. DEFINITION

Failure to thrive is a unique syndrome in which an infant fall below the fifth percentile for weight

and height on a standard growth chart or is falling in percentiles on a growth chart.

B. RISK FACTORS

Risk factors for FTT admission and readmission were described in a retrospective cohort study of

14,999 FTT hospitalizations. Approximately 41 percent of children hospitalized for FTT had a complex

chronic condition and 15 percent had ≥2 chronic conditions. Five percent of children were readmitted

for FTT within 30 days and 14 percent within three years. FTT readmission was associated with older

age at admission, lower median household income, and prematurity-related chronic medical

conditions.

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C. CLINICAL MANIFESTATIONS

 Growth Failure – 5th percentile in weight only or weight and height

 Developmental delays – social, motor, adaptive, language

 Apathy

 Poor hygiene

 Withdrawn behavior

 Feeding/ eating disorder: vomiting, anorexia, pica, rumination

 No fear of strangers (stage when stranger anxiety is normal)

 Avoidance of eye contact

 Wide-eyed gaze & continual scan of environment (radar gaze)

 Stiff & unyielding or flaccid & unresponsive

 Minimal smiling

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D. SIGNS AND SYMPTOMS

 Lethargy with poor muscle tone

 A loss of subcutaneous fat

 Skin breakdown

 Inability to resist the examiner’s manipulation the way the average infant does

 Staring hungrily at people who approach them as if they are starved from human contact

 Little cuddling or conforming to being held by the second month life

 Achievement of development milestones in the prone position by third of fourth month, but

delays in other behaviors that should appear in later months

 Markedly delayed or absent speech

 Diminished or nonexistent crying

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E. PATHOPHYSIOLOGY

The pathophysiology of failure to thrive depends on the underlying etiology. However, at its base

is a lack of necessary calories for adequate growth. This could be from not taking in enough calories,

losing too many calories, or increased caloric demand. There are multiple formulas available for

calculating caloric needs based on age and gender that can be helpful for catch-up growth once the

underlying etiology is identified.

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F. NURSING CARE

 Ensure adequate nutrition. Keep a careful record of intake and output so that the number of

calories being consumed everyday can be evaluated. Assess stools for pH and reducing substances

(glucose) to be certain the child is absorbing nutrients.

 Nurture the child. Give effective parenting. Spend time rocking the child, giving a leisurely bath,

talking to the child, exposing the child to toys, and parenting the child rather than just giving

routine care.

 Support and encourage the parents. Encourage the parents to visit as much as possible while the

child hospitalized or in foster care. Encourage the parents to feed the child if they want and

interact with the child as they choose. Give some suggestions about how the baby tries to

communicate with them.

 Ensure evaluation and follow-up. Adequate follow up to ensure that the emotional and physical

needs continue to be met is a much larger issue, so big that the answer lies not in treatment but in

prevention. Give counseling and close follow up in the postnatal period. Secure careful, thoughtful

pregnancy histories to elicit information about physiologic events that could lead to parenting

breakdown.

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G. PHARMACOLOGICAL MANAGEMENT

No medication is routinely needed unless an underlying condition is a factor (e.g., infection,

gastroesophageal reflux, cardiac or lung disease).

H. MEDICAL AND SURGICAL MANAGEMENT

Management of infant with FTT is individualized according to severity and chronicity of

undernutrition, underlying medical disorders, and the needs of the child and family. Successful

management requires a plan to address contributing nutritional, medical, developmental/behavioral, and

psychosocial factors.

Support of the caregivers is critical. They should be involved as much as possible in the formulation of

the treatment plan. The involvement of a dietitian, occupational or speech therapist, social worker,

and/or developmental and behavioral pediatrician can be helpful in formulating a management plan.

• Most of children with growth failure can be evaluated and manage as outpatients, with several

important exceptions.

• Children with psychosocial failure to thrive should be hospitalized if they manifest evidence of, or

are at high risk for, physical abuse and/or severe neglect, are severely malnourished or medically

unstable, or have failed a trial of outpatient management.


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• The success of treatment often depends on the establishment of positive and caring longitudinal

alliance with the child and caretakers.

• Management of psychosocial failure to thrive must be individualized to the specific needs of the

child and family.

• Nutritional rehabilitation: efforts are focused on correcting the dysfunctional child-parent

interactions by addressing areas of parental misinformation, providing and helping to implement specific

feeding guidelines, and addressing the larger psychosocial needs of the family.

• A multidisciplinary team approach involving the primary care provider, nutritionist, social worker,

child behavior specialist, and community-based outreach services is often most beneficial.

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QUESTIONS

1. A 3-month-old baby is diagnosed with inorganic FTT. Which should the nurse expect to

assess in this patient?

a. Avoidance of eye contact

b. Playfulness

c. Fitful sleep

d. Alertness

2. The nurse is providing care to a patient diagnosed with failure to thrive (FTT).

The nurse anticipates which treatment to be prescribed?

a. Proton pump inhibitors

b. Beta blockers

c. Formula feeding by gastric tube

d. Nutritional supplements

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3. The nurse is providing care for a patient diagnosed with failure to thrive (FTT).

Which finding should the nurse identify that supports the diagnosis for this patient?

a. The patient is above the 5th percentile for height on the standard growth chart.

b. The patient experiences frequent diarrhea.

c. The patient is below the 5th percentile for weight on the standardized growth chart.

d. The patient has inadequate sleep.

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REFERENCES

Ladia, H.T. (2011, February 13) INTUSSUSCEPTION. Retrieved from

https://www.scribd.com/document/48730727/INTUSSUSCEPTION

Lucero, K. (2012, February 25) Failure to Thrive. Retrieved from

https://www.scribd.com/document/82780169/Failure-to-Thrive

Smith, A.E. & Badireddy, M. (2020, September 10) Failure to Thrive. Retrieved from

https://www.ncbi.nlm.nih.gov/books/NBK459287/#:~:text=The%20pathophysiology%20of%20failure

%20to,calories%2C%20or%20increased%20caloric%20demand.

Suandi, I. G. (2014, March 12) Lecture 11 Failure to Thrive (FTT). Retrieved from

https://www.scribd.com/document/211978218/Lecture-11-Failure-to-Thrive-FTT.pdf

Susanto, N. (2019, July 3) failure to thrive. Retrieved from

https://www.scribd.com/document/415475239/failure-to-thrive.pdf

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COLIC

A. DEFINITION

Baby colic is commonly defined as distress or crying in an infant, which lasts for more than three

hours a day, for more than three days a week, for at least three weeks in an otherwise healthy infant.

It is a common, benign, self-limiting condition and, despite much research on the subject, the

underlying cause is still not clear.

The crying usually starts in the late afternoon or evening. Babies with colic might have a red face

and clenched fists. They might pull their legs up against their stomachs. It might look like they are in

pain.

Colic can start in babies as young as two weeks. It usually goes away by the time babies are three

or four months old. Some babies might have colic until they are six months old.

B. RISK FACTORS

Risk factors for colic are not well-understood. Research has not shown differences in risk when the

following factors were considered:

 Sex of the child

 Preterm and full-term pregnancies

 Formula-fed and breast-fed babies

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C. CLINICAL MANIFESTATIONS

On physical examination, the keys to the diagnosis are as follows:

 Normal physical findings. Infants with colic appear normal upon physical examination.

 Weight gain. Infants with colic often have accelerated growth; failure to thrive should make

one suspicious about the diagnosis of colic.

 Exclusion of potentially serious diagnoses that may be causing the crying. On acoustic analysis,

colicky crying differs from regular crying; compared with regular crying, colicky crying is more

variable in pitch, more turbulent or dysphonic, and has a higher pitch; mothers of infants with

colic, unlike mothers of infants without colic, rate the cries as more urgent, discomforting,

arousing, aversive, and irritating than usual.

D. SIGNS AND SYMPTOMS

All babies get fussy sometimes. But colic is more severe. Colic symptoms include:

 Crying for more than 3 hours, at least 3 times a week, over the course of at least 3 weeks,

although the baby is otherwise healthy.

 Kicking a lot, pulling the legs up close, and making tight fists.

 The baby's tummy seems hard, and the baby burps and passes gas often.

 Crying that sounds like the baby is in great pain.


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 Spitting up frequently after feeding.

E. PATHOPHYSIOLOGY

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The term colic derives from the Greek word kolikos or kolon, suggesting that some disturbance is

occurring in the GI tract. Researchers have also postulated nervous system, behavioral, and

psychologic etiologies.

A meta-analysis indicated that colic may be a form of migraine headache rather than, as has been

proposed, a GI condition. The analysis utilized 3 studies (891 subjects total), one of which indicated

that there is a greater likelihood of colic in infants whose mothers have migraine headaches and the

other two of which indicated that infants with colic are more likely to experience migraine in

childhood and adolescence. Using a pooled random effects model in their analysis, Gelfand and

colleagues found the odds ratio for an association between migraine and colic to be 5.6.

In a secondary analysis, which included two additional studies (both of which also looked at the

colic/migraine link but addressed a different primary research question), the odds ratio for the

association between migraine and colic was 3.2.

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F. NURSING CARE

Reduce/relieve pain. Assess pain characteristics; acknowledge reports of pain immediately; provide

rest periods to promote relief, sleep, and relaxation; place infant on a position of comfort to reduce

pain.

Educate caregivers on the disease. Assess ability to learn or perform desired health-related care;

determine priority of learning needs within the overall care plan; observe and note existing

misconceptions regarding material to be taught; grant a calm and peaceful environment without

interruption; include the caregivers in creating the teaching plan, beginning with establishing

objectives and goals for learning at the beginning of the session; provide clear, thorough, and

understandable explanations and demonstrations; allow repetition of the information or skill.

Improve parenting skills. Interview parents, noting their perception of situational and individual

concerns; educate parents regarding child growth and development, addressing parental perceptions;

involve parents in activities with the infant that they can accomplish successfully; recognize and

provide positive feedback for nurturing and protective parenting behaviors.

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G. PHARMACOLOGICAL MANAGEMENT

Medications for colic are until under consideration and research.

Simethicone. Simethicone is a nonabsorbable medication that changes the surface tension of gas

bubbles, allowing them to coalesce and disperse and releasing the gas for easier expulsion.

Herbal remedies. Herbal remedies have been used in many cultures; the common ingredients include

chamomilla, bitter apple, and fenugreek; only a handful of studies of herbal products have been

conducted, and additional studies of their safety and efficacy are needed.

H. MEDICAL AND SURGICAL MANAGEMENT

Rule out common causes of crying is the first step in treating an infant with persistent crying.

Allow others to care for the infant. Recommend that the parents not exhaust themselves and

encourage them to consider leaving their baby with other caretakers for short respites.

Follow-up. Consistent follow-up and a sympathetic physician are the cornerstones of management.

Anticholinergic. Dicyclomine hydrochloride is an anticholinergic drug that has been proven in clinical

trials to be effective in the treatment of colic; however, because of serious, although rare, adverse

effects (e.g., apnea, breathing difficulty, seizures, syncope), its use cannot be recommended.

Diet. Maternal low-allergens diets (i.e., low in dairy, soy, egg, peanut, wheat, shellfish) may offer relief

from excessive crying in some infants.

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QUESTIONS

1. The nurse is providing education to parents of an infant diagnosed with colic. What would the

nurse include in the discharge teaching?

a. The child will have to be watched for gastrointestinal issues in the future.

b. The symptoms of colic typically disappear by 3 months of age.

c. Providing juice at the start of the fussy period will help decrease the length of the crying

episodes.

d. The feeding method needs to be changed to a hypoallergenic formula.

2. A nurse is caring for a 2-month-old exclusively breastfed infant with an admitting diagnosis of

colic. Based on the nurse's knowledge of breastfed infants, what type of stool is expected?

a. Dark brown and small hard pebbles

b. Loose with green mucus streaks

c. Formed and with white mucus

d. Semi formed, seedy, yellow

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3. A mother calls the pediatrician's office because her infant is "colicky." The helpful measure the

nurse would suggest to the parent is to:

a. sing songs to the infant in a soft voice.

b. place the infant in a well-lit room.

c. walk around and massage the infant's back.

d. rock the fussy infant slowly and gently.

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I. REFERENCES

Belleza, M. (2021, February 11) Colic. Retrieved from https://nurseslabs.com/colic/

Chan, S. (2019, August 9) infantile colic. Retrieved from

https://www.scribd.com/document/421599406/infantile-colic

Mayo Foundation for Medical Education and Research (MFMER). (2020, February 29) Colic Retrieved

from https://www.mayoclinic.org/diseases-conditions/colic/symptoms-causes/syc-20371074

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TRISOMY 21

A. DEFINITION

Trisomy 21 also known as “Down Syndrome” is a condition in which a person has an extra

chromosome.

Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms

during pregnancy and how the baby’s body functions as it grows in the womb and after birth.

Typically, a baby is born with 46 chromosomes.

Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21.

A medical term for having an extra copy of a chromosome is ‘trisomy’.

This extra copy changes how the baby’s body and brain develop, which can cause both mental and

physical challenges for the baby.

Even though people with Trisomy 21 might act and look similar, each person has different

abilities. People with Trisomy 21 usually have an IQ (a measure of intelligence) in the mildly to-

moderately low range and are slower to speak than other children.

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B. RISK FACTORS

Mother’s age - women who are 35 years or older when they become pregnant are more likely to

have a pregnancy affected by Down syndrome than women who become pregnant at a younger age.

However, majority of babies with Down syndrome are born to mothers less than 35 years old, because

there are many more births among younger women.

C. CLINICAL MANIFESTATIONS (Signs and Symptoms)

 A flattened face, especially the bridge of the nose

 Almond-shaped eyes that slant up

 A short neck

 Small ears

 A tongue that tends to stick out of the mouth

 Tiny white spots on the iris (colored part) of the

 Eye

 Small hands and feet

 A single line across the palm of the hand (simian crease)

 Small pinky fingers that sometimes curve toward the thumb

 Poor muscle tone or loose joints

 Shorter in height as children and adults

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D. PATHOPHYSIOLOGY

The extra chromosome 21 affects almost every organ system and results in a wide spectrum of

phenotypic consequences. These include life-threatening complications, clinically significant

alteration of life course (e.g., intellectual disability), and dysmorphic physical features. Down

syndrome decreases prenatal viability and increases prenatal and postnatal morbidity. Affected

children have delays in physical growth, maturation, bone development, and dental eruption.

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Two different hypotheses have been proposed to explain the mechanism of gene action in Down

syndrome: developmental instability (i.e., loss of chromosomal balance) and the so-called gene-dosage

effect. According to the gene-dosage effect hypothesis, the genes located on chromosome 21 have

been overexpressed in cells and tissues of Down syndrome patients, and this contributes to the

phenotypic abnormalities. [12]

The extra copy of the proximal part of 21q22.3 appears to result in the typical physical phenotype,

which includes the following:

Intellectual disability - Most patients with Down syndrome have some degree of cognitive

impairment, ranging from mild (intelligence quotient [IQ] 50-75) to severe impairment (IQ 20-35);

patients show both motor and language delays during childhood

Characteristic facial features

Hand anomalies

Congenital heart defects - Almost half of affected patients have congenital heart disease, including

ventricular septal defect and atrioventricular canal defect

Molecular analysis reveals that the 21q22.1-q22.3 region, also known as the Down syndrome

critical region (DSCR), appears to contain the gene or genes responsible for the congenital heart

disease observed in Down syndrome. A new gene, DSCR1, identified in region 21q22.1-q22.2, is highly

expressed in the brain and the heart and is a candidate for involvement in the pathogenesis of Down

syndrome, particularly regarding intellectual disability and cardiac defects.

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Abnormal physiologic functioning affects thyroid metabolism and intestinal malabsorption.

Patients with trisomy 21 have an increased risk of obesity. Frequent infections are presumably due to

impaired immune responses, and the incidence of autoimmunity, including hypothyroidism and rare

Hashimoto thyroiditis, is increased.

A study by Tarani et al of prepubertal children with Down syndrome indicated that neutrophils

and immune-system pathways are disrupted in these patients. The investigators found that in these

children, brain-derived neurotrophic factor (BDNF) levels were higher than in controls, while there

was a significant reduction in serum levels of tumor necrosis factor-α (TNF-α), transforming growth

factor-β (TGF-β), monocyte chemoattractant protein-1 (MCP-1), interleukin 1α (IL-1α), IL-2, IL-6, IL-

10, and IL-12.

Patients with Down syndrome have decreased buffering of physiologic reactions, resulting in

hypersensitivity to pilocarpine and abnormal responses on sensory-evoked electroencephalographic

(EEG) tracings. Children with leukemic Down syndrome also have hyperreactivity to methotrexate.

Decreased buffering of metabolic processes results in a predisposition to hyperuricemia and

increased insulin resistance. Diabetes mellitus develops in many affected patients. Premature

senescence causes cataracts and Alzheimer disease. Leukemoid reactions of infancy and an increased

risk of acute leukemia indicate bone-marrow dysfunction.

Children with Down syndrome are predisposed to developing leukemia, particularly transient

myeloproliferative disorder and acute megakaryocytic leukemia. Nearly all children with Down

syndrome who develop these types of leukemia have mutations in the hematopoietic transcription

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factor gene, GATA1. Leukemia in children with Down syndrome requires at least 3 cooperating events:

trisomy 21, a GATA1 mutation, and a third, undefined genetic alteration.

Musculoskeletal manifestations in patients with Down syndrome include reduced height, atlanto-

occipital and atlantoaxial hypermobility, and vertebral malformations of the cervical spine. These

findings may lead to atlanto-occipital and cervical instability, as well as complications such as

weakness and paralysis.

About 5% of patients with Down syndrome have GI manifestations, including duodenal atresia,

Hirschsprung disease, and celiac disease. Many patients with trisomy 21 have otorhinolaryngologic

manifestations, including hearing loss and recurrent ear infections. About 60% of patients have

ophthalmic manifestations.

A study by Romano et al indicated that in persons with Down syndrome, brain cortical thickness is

reduced with increasing age. The study involved 91 persons with Down syndrome, none of whom had

dementia, with cortical thickness measured using magnetic resonance imaging (MRI). Frontal,

temporal, parietal, and cingulate gyrus measurements showed bilateral cortical thinning in

association with age, with thickness apparently declining more significantly and rapidly between the

ages of 20 and 30 years.

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E. NURSING CARE

 Assess for associated problems.

 Allow expression of feelings to encourage family's coping

 Convey attitude of acceptance of infant and family because parents are sensitive to affective

attitude of others

 Indicate by behavior that child is a valuable human being to encourage acceptance of infant

 Explain that the child’s resultant lack of clinging is physiologic and not a sign of detachment.

 Prevent respiratory infections by clearing the nose with a bulb syringe, using a cool mist vaporizer,

performing chest physiotherapy when needed, providing good handwashing and avoiding

exposure to infection.

 When feeding infants and young children, use a small, straight-handled spoon to push food to the

side and back of the mouth. Feeding difficulties occur due to a protruding tongue and hypotonia.

 Encourage fluids and foods rich in fiber. Constipation results from decreased muscle tone, which

affects gastric motility.

 Provide good skin care because the skin is dry and prone to infection.

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F. PHARMACOLOGICAL MANAGEMENT

Drug therapy is not currently a component of the standard of care for Down syndrome.

Medications are indicated only for symptomatic treatment of pain. Obviously, prolonged use of

analgesics without diagnostic evaluation and an understanding of the underlying cause should not be

encouraged. No analgesic is superior.

Diuretics and digoxin should be used to manage congestive heart failure secondary to congenital

heart defect.

G. MEDICAL AND SURGICAL MANAGEMENT

Physicians and parents should be aware of the range of psychomotor potential so that early

intervention, schooling, and community placement are provided.

Despite continued work, no notable medical treatments for intellectual disability associated with

Down syndrome have been forthcoming. However, the dramatic improvements in medical care

described below have greatly improved the quality of life for patients and increased their life

expectancy. [98]

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Usual immunizations and well-childcare should be performed as the American Academy of

Pediatrics recommends. Associated conditions should be monitored periodically as the child grows

older.

Surgical management of associated conditions should be provided as appropriate. Down syndrome

alone does not adversely affect surgical outcomes in the absence of pulmonary hypertension. Because

of potential atlanto-occipital instability, care should be taken when sedation and airway management

are considered for procedures or for consideration of sports participation.

Further outpatient care may include the following:

 Audiologic evaluation for hearing loss

 Apnea monitoring

Regular screening is necessary for institutionalized older adults to diagnose early onset dementia,

epilepsy, hypothyroidism, and early loss of visual acuity and hearing.

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QUESTIONS

1. Celiac Disease is notably found in patients with which condition?

a. Muscular Dystrophy

b. Down Syndrome

c. Cerebral Palsy

d. Torticollis

2. Which of the following is NOT an appropriate intervention for a child with Down Syndrome?

a. Personality motivation

b. Pre-literacy skills

c. Expressive language

d. Tumbling exercises

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3. Down syndrome is caused an extra chromosome that is formed by an error from the

translocation of which chromosomal pair?

a. Chromosome 20

b. Chromosome 21

c. Chromosome 22

d. Chromosome 23

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REFERENCES

Molina, A.M. (2019, March 20) Trisomy 21 and Cleft Palate 1. Retrieved from

https://www.scribd.com/presentation/402558619/Trisomy-21-and-Cleft-Palate-1

Mundakel, G.T. et al. (2020, May 18) Down Syndrome Clinical Presentation. Retrieved from

https://emedicine.medscape.com/article/943216-overview#a3

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CLEFT AND LIP PALATE

A. DEFINITION

Cleft lip and cleft palate are openings or splits in the upper lip, the roof of the mouth (palate) or

both. Cleft lip and cleft palate result when facial structures that are developing in an unborn baby

don't close completely.

Cleft lip and cleft palate are among the most common birth defects. They most commonly occur as

isolated birth defects but are also associated with many inherited genetic conditions or syndromes.

B. RISK FACTORS

The causes of orofacial clefts among most infants are unknown.

Some children have a cleft palate because of changes in their genes. Cleft lip and cleft palate are

thought to be caused by a combination of genes and other factors, such as things the mother comes in

contact within her environment, or what the mother eats or drinks, or certain medications she uses

during pregnancy.

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C. CLINICAL MANIFESTATIONS

I. SIGNS AND SYMPTOMS

Usually, a split (cleft) in the lip or palate is immediately identifiable at birth. Cleft lip and cleft

palate may appear as:

 A split in the lip and roof of the mouth (palate) that affects one or both sides of the face

 A split in the lip that appears as only a small notch in the lip or extends from the lip through

the upper gum and palate into the bottom of the nose

 A split in the roof of the mouth that doesn't affect the appearance of the face

Less commonly, a cleft occurs only in the muscles of the soft palate (submucous cleft palate),

which are at the back of the mouth and covered by the mouth's lining. This type of cleft often goes

unnoticed at birth and may not be diagnosed until later when signs develop. Signs and symptoms

of submucous cleft palate may include:

 Difficulty with feedings

 Difficulty swallowing, with potential for liquids or foods to come out the nose

 Nasal speaking voice

 Chronic ear infections

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D. PATHOPHYSIOLOGY

In facial morphogenesis, neural crest cells migrate into the facial region, where they form the

skeletal and connective tissue and all dental tissues except the enamel. Vascular endothelium and

muscle are of mesodermal origin.

The upper lip is derived from medial nasal and maxillary processes. Failure of merging between

the medial nasal and maxillary processes at 5 weeks' gestation, on one or both sides, results in CL. CL

usually occurs at the junction between the central and lateral parts of the upper lip on either side.

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The cleft may affect only the upper lip, or it may extend more deeply into the maxilla and the

primary palate. (Cleft of the primary palate includes CL and cleft of the alveolus.) If the fusion of

palatal shelves is impaired also, the CL is accompanied by CP, forming the CLP abnormality.

CP is a partial or total lack of fusion of palatal shelves. It can occur in the following ways:

 Defective growth of palatal shelves

 Failure of the shelves to attain a horizontal position

 Lack of contact between shelves

 Rupture after fusion of shelves

The secondary palate develops from the right and left palatal processes. Fusion of palatal shelves

begins at 8 weeks' gestation and continues usually until 12 weeks' gestation. One hypothesis is that a

threshold is noted beyond which delayed movement of palatal shelves does not allow closure to take

place, and this results in a CP.

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E. NURSING CARE

 Assess for associated problems.

 Allow expression of feelings to encourage family’s coping

 Convey attitude of acceptance of infant and family because parents are sensitive to affective

attitude of others

 Indicate by behavior that child is a valuable human being to encourage acceptance of infant.

 Instruct the client's health provider about proper feeding. Feeding should be done in an upright

position using soft nipples. In some instances, feeding may have to be gavage or dropper. The

client's care giver must be aware of the signs of aspiration.

 Parents must be told of the possible necessity for orthodontal and dentistry work in the future.

F. PHARMACOLOGICAL MANAGEMENT

Infant with a cleft lip or palate will need several treatments and assessments as they grow up. A

cleft is usually treated with surgery.

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G. MEDICAL AND SURGICAL MANAGEMENT

When a neonate with a cleft is born, a pediatrician has three major concerns:

Risk of aspiration because of communication between oral and nasal cavities

Airway obstruction (in addition to sequelae of aspiration, especially in Pierre Robin sequence,

where the CP is combined with micrognathia and the tongue has a normal size)

Difficulties with feeding of a child with a cleft and nasal regurgitation

These three factors are influenced by the presence of other major or minor anomalies that

may, in association with a cleft, represent one of 300 known cleft syndromes. [6] Therefore, a

neonate with an orofacial cleft should be seen by a medical geneticist as soon as possible.

As with any other medical condition, each case is different. A child with a severe cleft may

do very well, whereas a child with a much less severe condition may experience many problems.

An individual approach is necessary; however, several major rules apply to every neonate born

with a cleft.

A pediatrician or neonatologist is usually the first person to take care of a neonate born

with a cleft and the first to talk to the parents. As soon as possible, each baby born with orofacial

cleft should be referred to the cleft palate or craniofacial center, where each specialist evaluates

the baby, delineates the best management options and treatment plan, and continuously revises

individual procedures and treatment during follow-up visits.

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Undoubtedly, closure of the CL is the first major procedure that tremendously changes

children's future development and ability to thrive. Variations occur in timing of the first lip

surgery; however, the most usual time occurs at approximately age 3 months.

Pediatricians used to strictly follow a rule of "three 10s" as a necessary requirement for

identifying the child's status as suitable for surgery (i.e., 10 lb. [4.5 kg], 10 g/dL of hemoglobin, and

age 10 weeks). Although pediatricians are presently much more flexible, and some surgeons may

well justify a neonatal lip closure, considering the rule of three 10s is still very useful.

Anatomic differences predispose children with CLP and those with isolated CP to ear

infections. Therefore, ventilation tubes are placed to ventilate the middle ear and prevent hearing

loss secondary to otitis media with effusion.

In multidisciplinary teams with significant participation of an otolaryngologist, the tubes

are placed at the initial surgery and at the second surgery routinely. The hearing is tested after the

first placement when ears are clear with tubes. If no cleft surgery is planned early, placing the

tubes early [47] (e.g., by age 6 months) and monitoring hearing with repeated testing is

recommended.

Complications include eardrum perforation and otorrhea, particularly in patients with open

secondary palates in which closure is planned for later.

For preventive reasons, ear tubes are usually placed when the child is still under general

anesthesia for cleft repair.

Detailed surgical treatment is described elsewhere (see Craniofacial, Bilateral Cleft Lip

Repair, Craniofacial, Bilateral Cleft Nasal Repair, Craniofacial, Unilateral Cleft Nasal Repair,

Craniofacial, Unilateral Cleft Lip Repair). Pediatricians may find it useful to inform parents of the

kinds of procedures that a child with cleft may undergo.


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The most common surgical procedures for a child with a CLP anomaly are as follows:

 Repair of the CL

 Repair of the CP

 Revision of the CL

 Closure and bone grafting of the alveolar cleft

 Closure of palatal fistulae

 Palatal lengthening

 Pharyngeal flap

 Pharyngoplasty

 Columellar lengthening

 CL rhinoplasty and septoplasty

 Lip scar revision

 LeFort I maxillary osteotomy

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QUESTIONS

1. The labor and delivery nurse know that many infants with a cleft lip also have a cleft palate.

Which assessment technique will determine if the infant has a cleft palate?

a. Insert a gloved finger and palpate the top of the infant's mouth.

b. Assess the inside of the infant's mouth with a pen light.

c. Place a sterile tongue blade in the mouth and press down.

d. Request a computed tomography (CT) scan of the face and mouth.

2. An important assessment for the nurse to perform in identifying the cleft palate is to:

a. assess sucking ability of infant

b. assess color of lips

c. palpate the palate with a gloved finger

d. do all the above

3. Which feeding practices should be used for the infant with a cleft lip or palate?

a. Use a large, hard nipple with a large hole

b. Use a normal nipple and position it sideways in the mouth

c. Use a special nipple, positioned so it is compressed by the infant's tongue and existing

palate

d. Withhold breastfeeding until after surgical correction of the defect


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REFERENCES

Mayo Foundation for Medical Education and Research (MFMER). (2018, May 22) Cleft lip and cleft

palate. Retrieved from https://www.mayoclinic.org/diseases-conditions/cleft-palate/symptoms-

causes/syc-20370985

Molina, A.M. (2019, March 20) Trisomy 21 and Cleft Palate 1. Retrieved from

https://www.scribd.com/presentation/402558619/Trisomy-21-and-Cleft-Palate-1

Tolarova, M.M. et. al. (2020, February 21) Pediatric Cleft Lip and Palate. Retrieved from

https://emedicine.medscape.com/article/995535-overview#a1

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IMPERFORATED ANUS

A. DEFINITION

Imperforate anus is congenital (present from birth) defect in which the opening to the anus is

missing or blocked. The anus is the opening to the rectum through which stools leave the body.

B. RISK FACTORS

Imperforate anus may occur in several forms. The rectum may end in a blind pouch that does not

connect with the colon. Or, it may have openings to the urethra, bladder, base of penis or scrotum in

boys, or vagina in girls. A condition of stenosis (narrowing) of the anus or absence of the anus may be

present.

The problem is caused by abnormal development of the fetus, and many forms of imperforate anus

are associated with other birth defects. It is a relatively common condition that occurs in about 1 out

of 5,000 infants.

C. CLINICAL MANIFESTATIONS

A doctor can diagnose this condition during a physical exam. Imaging tests may be recommended.

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D. SIGNS AND SYMPTOMS

 membrane filled with black meconium can be seen protruding from the anus

 abdominal distention evident

 Anal opening very near the vaginal opening in girls

 Missing or misplaced opening to the anus

 No passage of first stool within 24 - 48 hours after birth

 Stool passes out of the vagina, base of penis, scrotum, or urethra

 Swollen belly area

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E. PATHOPHYSIOLOGY

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The embryogenesis of these malformations remains unclear. The rectum and anus are believed to

develop from the dorsal potion of the hindgut or cloacal cavity when lateral ingrowth of the

mesenchyme forms the urorectal septum in the midline. This septum separates the rectum and anal

canal dorsally from the bladder and urethra. The cloacal duct is a small communication between the 2

portions of the hindgut. Downgrowth of the urorectal septum is believed to close this duct by 7 weeks'

gestation. During this time, the ventral urogenital portion acquires an external opening; the dorsal

anal membrane opens later. The anus develops by a fusion of the anal tubercles and an external

invagination, known as the proctodeum, which deepens toward the rectum but is separated from it by

the anal membrane. This separating membrane should disintegrate at 8 weeks' gestation.

Interference with anorectal structure development at varying stages leads to various anomalies,

ranging from anal stenosis, incomplete rupture of the anal membrane, or anal agenesis to complete

failure of the upper portion of the cloaca to descend and failure of the proctodeum to invaginate.

Continued communication between the urogenital tract and rectal portions of the cloacal plate causes

rectourethral fistulas or rectovestibular fistulas.

The external anal sphincter, derived from exterior mesoderm, is usually present but has varying

degrees of formation, ranging from robust muscle (perineal or vestibular fistula) to virtually no

muscle (complex long–common-channel cloaca, prostatic or bladder-neck fistula).

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F. NURSING CARE

 Before surgery, keep infant NPO to avoid further bowel distention.

 Administer intravenous therapy to maintain fluid and electrolyte imbalance

 Caution parents to avoid unrefined rice and grains, vegetables with fibers, or fruits with peel.

 Take axillary or tympanic temperatures rather than rectal temperatures.

 Avoid enemas, suppositories, or any other intrusive rectal procedures.

 Clean suture line well after bowel movements by irrigating it with normal saline.

 Place diaper under, not on the infant so that bowel movements can be cleansed away as soon as

they occur

 Do not place infant on abdomen because in this position, newborns tend to pull their knees under

them, causing tension in the perineal area. A side lying is best.

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NUEVA ECIJA UNIVERSITY OF SCIENCE AND
Cabanatuan City, Nueva Ecija, Philippines
ISO 9001:2015 CERTIFIED

G. PHARMACOLOGICAL MANAGEMENT

Many children with anorectal malformations require medications for various reasons. Beyond

perioperative medications, maintenance medications often include urinary antibiotic prophylaxis or

treatment and/or laxatives.

Urinary prophylaxis is used to mitigate the risk of urinary infection and urosepsis in children with

risk factors for urinary infection such as urinary fistula, vesicoureteral reflux, or continent diversion.

Common agents include oral amoxicillin, oral trimethoprim/sulfamethoxazole, and gentamicin

bladder irrigations.

Common laxatives include senna products, milk of magnesia, and propylene glycol solutions (e.g.,

MiraLAX, Glycol ax).

H. MEDICAL AND SURGICAL MANAGEMENT

Medical Care

Newborns with imperforate anus should not be fed and should receive intravenous hydration.

Life-threatening comorbidities take precedence and must be treated first.

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Republic of the Philippines
NUEVA ECIJA UNIVERSITY OF SCIENCE AND
Cabanatuan City, Nueva Ecija, Philippines
ISO 9001:2015 CERTIFIED

If a urinary fistula is suspected, broad-spectrum antibiotics can be administered, although

anaerobic coverage is unnecessary within the first 48 hours of life. Any cardiac murmurs identified

upon physical examination should be evaluated using echocardiography prior to surgical intervention.

The remainder of treatment includes diagnostics and surgical evaluation and management.

Surgical Care

The decision-making process aims to determine which children should undergo primary repair in

the neonatal period and which children require colostomy and definitive repair in a staged fashion.

Children with anorectal malformations may undergo one or several of the following surgical

procedures based on the child's presentation, physical examination findings, and imaging study

findings.

 Neonatal colostomy

 Primary neonatal pull-through without colostomy

 Posterior sagittal pull-through with colostomy

 Colostomy closure: Once the wound has completely healed and postoperative dilations have

achieved their goal (i.e., the neoanus is at the desired size), the colostomy may be closed in

traditional surgical fashion.

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Republic of the Philippines
NUEVA ECIJA UNIVERSITY OF SCIENCE AND
Cabanatuan City, Nueva Ecija, Philippines
ISO 9001:2015 CERTIFIED

QUESTIONS

1. The nurse is caring for a newborn with a suspected diagnosis of imperforate anus. The nurse

monitors the infant, knowing that which is a clinical manifestation associated with this

disorder?

a. Bile-stained fecal emesis

b. The passage of currant jelly-like stools

c. Failure to pass meconium stool in the first 24 hours after birth

d. Sausage-shaped mass palpated in the upper right abdominal quadrant

2. The nurse is developing a plan of care for an infant after surgical intervention for imperforate

anus. The nurse should include in the plan that which position is the most appropriate one for the

infant in the postoperative period?

a. Prone position

b. Supine with no head elevation

c. Side-lying with the legs extended

d. Supine with the head elevated 45 degrees

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Republic of the Philippines
NUEVA ECIJA UNIVERSITY OF SCIENCE AND
Cabanatuan City, Nueva Ecija, Philippines
ISO 9001:2015 CERTIFIED

3. The nurse is assisting the pediatrician in performing an assessment on a newborn suspected of

having imperforate anus. Which finding would be noted in this disorder?

a. Presence of an anal membrane

b. An elevated rectal temperature

c. Widening of the anal rectal canal

d. Meconium stool passing from the rectum

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Republic of the Philippines
NUEVA ECIJA UNIVERSITY OF SCIENCE AND
Cabanatuan City, Nueva Ecija, Philippines
ISO 9001:2015 CERTIFIED

REFERENCES

Silvia, P. (2016, June 9) Pediatric Imperforate Anus. Retrieved from

https://www.scribd.com/document/315244253/Pediatric-Imperforate-Anus

Merla, M. (2010, November 27) Case Pres- Imperforate Anus. Retrieved from

https://www.scribd.com/doc/44109094/Case-Pres-Imperforate-Anus

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