CHAPTER II REVIEW OF RELATED LITERATURE

This chapter will provide concepts regarding Hirschprungs disease and other stated health problem. These literatures give relevance to the case being studied by the researcher. The researcher utilized references from books, internet, e-books and other sources. This is to set basis for the analysis and interpretation of the study.

Pediatric Nursing Leifer, G., (2007). Introduction to Maternity and Pediatric Nursing 5th edition. Saunders, Elsevier Inc., pg.5 A pediatric nurse works in specialized units at medical facilities, such as neonatal units and children hospitals. To provide the best care for these young patients, a pediatric nurse must have vast knowledgeable of appropriate psychomotor and social skills of infants and children, as well as cognitive growth development of both children and adolescents. Pediatric care focuses on preventative care to ensure that children are growing with careful guidance to lead healthy lifestyles. At many medical facilities, a pediatric nurse also responds to emergency injuries and illnesses. Steve, J., et. al (2010) Scopes and Standards of Practice. p.15 Retrieved on August 10, 2012 The Pediatric Nurse Practitioner (PNP) is an advanced practice registered nurse who provides health care to children from birth through 21 years of age, and in specific situations, to individuals older than the age of 21 years.

Margo (2012) Retrieved from: http://www.pediatricnursing.net/Retrieved on August 10, 2012 Pediatric nursing or child health nursing is the specialty nursing care of babies, children and adolescents. A nurse who specialises in this area is usually referred to as a pediatric nurse. Although there are many regional and sub-specialty variations in title. The spelling paediatric nursing is more common in English-speaking countries outside the United States. The breadth of this field of practice may be considered as similar to that of adult nursing, with an equivalent sub-specialty for most adult illnesses and some unique areas of practice. For example, pediatric cardiology and oncology are both established subspecialties in most major pediatric facilities. Pediatric nurses play an important role in making children better. Because they are responsible for the majority of the care patients receive, they are able to connect with the children in their care. They can make a scary experience for children and their families much more bearable.

Pediatrics Leifer, G., (2007). Introduction to Maternity and Pediatric Nursing 5th edition. Saunders, Elsevier Inc., pg.2 Pediatrics is defined as the branch of medicine that deals with the childs development and care and the diseases of childhood and their treatment. The word is derived from the greek pais, paidos, meaning child, and iatreia, cure. Family-centered care recognizes the strength and integrity of the family as the core of planning and implementing health care. The family as caregivers and decision makers are an integral part of both obstetric and pediatric nursing. The philosophy, goals, culture and

ethnic practices of the family contribute to their ability to accept and maintain control over the health care of family members. This control is called empowerment. The nurses role in maternity and pediatric family-centered care is to enter into a contract or partnership with the family to achieve the goals of health for its members. Academy of Pediatrics (2011) Definition of A Pediatrician. Retrieved on August 11, 2012 Pediatrics is the specialty of medical science concerned with the physical, mental and social health of children from birth to young adulthood. Pediatric care encompasses a broad spectrum of health services ranging from preventive health care to the diagnosis and treatment of acute and chronic diseases. (Internet) MedicineNet (2012) Retrieved Retrieved from: on

http://www.medterms.com/script/main/art.asp?articlekey=4814. August 11, 2012

The field of medicine that is concerned with the health of infants, children, and adolescents; their growth and development; and their opportunity to achieve full potential as adults.

Growth and Development Pillitteri, A. (2010). Maternal and child health nursing 6th edition. Lippincott Williams and Wilkins, page 814-818 Freuds psychoanalytic theory termed the infant period the oral phase because infants are so interested in oral stimulation or pleasure during this time. According to this theory, infants suck for enjoyment or relief of tension, as well as for nourishment. According to Eriksons, the developmental task for infants is learning trust versus mistrust. Infants whose needs are met when those needs arise, whose discomforts are quickly removed, who are cuddled, played with, and talked to, come to view the world as a safe place and people as helpful and dependable. However, when their care is inconsistent, inadequate, or rejecting, it fosters a basic mistrust; infants become fearful and suspicious of the world and of people. Like a burned child who avoids fire, emotionally burned children may shun the potential pain of further emotional involvement and carry this attitude through later stages of development. Such children can be stuck emotionally at this stage, although they continue to grow and develop in other ways. Piaget referred to the infant stage as the sensorimotor stage. Sensorimotor intelligence is practical intelligence, because words and symbols for thinking and problem solving are not yet available at this early age. At the beginning of infancy, the babies relate to the world through their senses, using only reflex behavior. As infants progress through this stage, they learn the basic concept that people are entities separate from objects. Piaget used the term primary to refer to activities related to a childs own body and the term circulatory reaction to show that repetition of behavior occurs.

Evans, F. B., 2008. Harry Stack Sullivan: Interpersonal theory and Psychotherapy. Routledge, Pagge 73 Sullivan defined infancy as the period from birth until the development of articulate speech, the first developmental epoch. Sullivans conception of infancy was the cornerstone of his developmental theory. Sullivan entered the infant world though a compelling description of the infants first post-natal experience the danger of anoxia. Sullivan observed that the infants first reaction to anoxia, upon his or her umbilical separation from the mother, was an intense response for fear akin to what could easily be called terror and rage. For Sullivan, this first tension of fear arising from unsatisfied, extremely aggravated needs, and the terror and rage behavior it provoked, revealed the tremendous energy of young infants, which appeared to be designed to call forth an interpersonal response.

Learning Speed (2010). Newborns: Cognitive Development. Retrieved on August 10, 2012 Newborns are in the sensorimotor stage. Inborn reflexes include rooting (turning their heads towards something that touches their cheek), sucking (the tendency to suck at things that touch their lips), stepping (the movement of legs when they are held with their feet touching the floor) Meyerhoff, M. (2011) Understanding Cognitive and Social Development in a Newborn. Retrieved on August 10, 2012 The period of trust covers the early months in an infant's life and is so called because babies need to establish confidence in their parents and in their environment.

This period of trust provides a solid foundation for further development.Their parents can't separate the cry of hunger, fatigue, or the discomfort of wet diapers from the cry for attention. Problems frequently occur because of parental inexperience or because there are marked differences in temperament between parent and infant. Microsoft Britannica(2011) Oral Stage. Retrieved on August 10, 2012 in Freudian psychoanalytic theory, initial psychosexual stage during which the developing infants main concerns are with oral gratification. The oral phase in the normal infant has a direct bearing on the infants activities during the first 18 months of life. For the newborn, the mouth is the all-absorbing organ of pleasure. Freud said that through the mouth the infant makes contact with the first object of libido (sexual energy), the mothers breast. Oral needs are also satisfied by thumb-sucking or inserting environmental objects, such as dolls, other toys, or blankets into the mouth. Freud believed the oral phase begins to shift toward the end of an infants first year to the anal region.

Common Illnesses BC Center for Disease Control (2009) A Quick Guid to Common Childhood Illnesses Retrieved on July 24, 2012 The common five illnesses among newborns are hyperthermia, Chickenpox, Cold sores, Croup, and E coli associated illnesses No Author Listed (2012).

www.pediatrics.about.com/od/diseasesandconditions/Common_Pediatric_Diseases_ and_Conditions. htm. Retrieved on: July 24,2012

There are many diseases and disorders seen in a pediatric practice. These are the ten usual illnesses that pediatric clients have: Asthma, Eczema, Gastroenteritis, Impetigo, Otitis media, Pinworms, Scabies, Strep throat, Urinary tract infection, and Dermatitis.

Statistics (Common Illnesses) BC Center for Disease Control (2009) A Quick Guid to Common Childhood Illnesses Retrieved on July 24, 2012 Among newborn, the hyperthermia happens to be an indicator of any possible underlying condition. 65% of the newborn population experienced this illness. Chickenpox usually happens in early childhood. Almost 85% of pediatric clients had this illness, 35% for Cold sores, 15% for Croup, and almost 47% for E coli associated illnesses.

Medicine.Net(2012) http://www.medicinenet.com/script/main/art.asp?articlekey=156283. Retrieved on August 10, 2012 Minor illnesses, such as colds and intestinal disturbances, are common, especially in the early years: children from age 0 to 3 years experience six to nine illnesses per year. From age 4 to 10 years, children develop, on average, four to six illnesses per year.

Hirshsprungs Disease Smeltzer, Bare (2011). Chapter 19: Hirschsprungs disease. Medical Surgical Nursing 9th Edition Volume 1. Page 468

Hirschsprung's disease is a common cause of a neonatal intestinal obstruction that is of great interest to pediatric surgeons throughout the world. It is a congenital condition in which a portion , or occasionally the whole , of the colon has no ganglion cells. This leads to a functional obstruction of the distal colon. The distal colon and rectum are always affected , but the proximal extent of involvement is variable. In the most common type , aganglionisis is present in the rectosigmoid colon. Above the the aganglionic segment is also called transition zone , and then normal ganglionic bowel is seen. Characteristically , the aganglionic segment is not dilated , but the colon proximal to the aganglionic segment becomes gradually dilated , often reaching enormous proportions. Patients with Hirschsprungs disease characteristically do not pass meconium during the first 24 hours of life .. Abdominal distention and vomiting may endue , and the general condition of the patient may deteriorate . Examination of the rectum usually produces a characteristically explosive bowel movement that may temporarily alleviate the abdominal distention. Occasionally , the patient will develop foul-smelling watery diarrhea , distention , and symptoms of scpsis and toxemia , which signal the onset of enterocolitis. The etiology is unclear. Arrested orocaudad migration of the ganglion cells is one theory. The condition occurs in approximately 1 in 4,000 newborns. The primary

diagnostic test is a contrast enema, which shows a normal caliber aganglionic degment of the cilon beginning at the anus , followed proximally by a dilated colon with a transition zone in between . The diagnosis is confirmed by a suction rectal biopsy, which shows the characteristic lack of ganglion cells , increased activity of the acetyl cho Hirschsprung's disease is a common cause of a neonatal intestinal obstruction that is of great interest to

pediatric surgeons throughout the world. It is a congenital condition in which a portion , or occasionally the whole of the colon has no ganglion cells. This leads to a functional obstruction of the distal colon. The distal colon and rectum are always affected , but the proximal extent of involvement is variable. In the most common type ,aganglionisis is present in the rectosigmoid colon. Above the theaganglionic segment is also called transition zone , and then normal ganglionic bowel is seen. Characteristically , the aganglionic segment is not dilated , but the colon proximal to the aganglionic segment becomes gradually dilated , often reaching enormous proportions. Thapar, N. (2009) New Frontiers in the Treatment of Hirschsprung Disease Retrieved on August 10, 2012 Hirschsprung disease (HSCR) is the most common identifiable developmental disorder of the enteric nervous system (ENS) with an incidence of 1:5000 live births. In many respects it is the archetypal ENS developmental disorder characterized by a failure of complete formation of the ENS, leaving an absence of enteric ganglia (aganglionosis) in a variable segment of distal bowel. This leads to peristaltic misregulation and tonic contraction within the affected gut, causing intestinal obstruction Nurko, S. (2008) Hirshsprung's Disease Retrieved on August 10,2012 Hirschsprung's disease (HD) is a congenital illness in which there is a lack of intrinsic nerves (ganglion cells) in the distal segments of the intestinal tract. These abnormal segments produce mechanical obstruction because of failure to relax during peristalsis. Hirschsprung's disease always starts in the anal verge, but the length of the segment without ganglion cells (aganglionic) varies: it is limited to the rectum and

sigmoid in 75% of patients; involves the whole colon in 8%; and rarely involves the small bowel.

Statistics Global Impact Nurko, S. (2008) Hirshsprung's Disease Retrieved on August 10,2012 The incidence of Hirschsprung's disease varies from 1 in 5,000 to 1 in 10,000 live births. There appears to be a male preponderance with a ratio of 3:1 to 5:1, particularly in those with short segments. The average age at the time of diagnosis has been decreasing over the years. The diagnosis is established in 15% within the first month of life, in 40-50% in the first 3 months, in 60% at the end of the first year of age, and in 85% by 4 years. No Author Listed(2011). Retrieved from:

http://www.rightdiagnosis.com/h/hirschsprungs_disease/prevalence.htm. Retrieved on July 20, 2012 Hirschsprung's disease is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Hirschsprung's disease, or a subtype of Hirschsprung's disease, affects less than 200,000 people

Manifestations Smeltzer, Bare (2011). Chapter 19: Hirschsprungs disease. Medical Surgical Nursing 9th Edition Volume 1. Page 468

Patients with Hirschsprungs disease characteristically do not pass meconium during the first 24 hours of life .. Abdominal distention and vomiting may endue , and the general condition of the patient may deteriorate . Examination of the rectum usually produces a characteristically explosive bowel movement that may temporarily alleviate the abdominal distention. Occasionally , the patient will develop foul-smelling watery diarrhea , distention , and symptoms of scpsis and toxemia , which signal the onset of enterocolitis. Nurko, S. (2008) Hirshsprung's Disease Retrieved on August 10,2012 The symptoms vary with the age of the patient and the extent of the disease. In the newborn period, bilious emesis, abdominal distention, and failure to pass meconium or abnormal stool frequency are common. Complete intestinal obstruction and perforation of the cecum or the appendix may occur. If the diagnosis is not established in the newborn, the infant may present with mild constipation that may be followed with acute obstruction, frequent episodes of fecal impaction or with the development of acute life threatening enterocolitis.

Nursing Care and Management Hockenberry, Marilyn; Wilson, David (2007). Wongs Nursing Care of Infants And Children. 8th Edition, Volume 2. Page 1399 The nursing concerns depend on the childs age and the type of treatment. Observation of passage of meconium and bowel patterns in the neonatal period is an important factor in early diagnosis. If the disorder is diagnosed during the neonatal period, the main objectives are helping the parents adjust to the congenital disorder,

fostering infant-parent bonding, preparing the parents for the medical-surgical interventions, and assisting them in caring for the colostomy after discharge. When the disorder is not discovered during infancy, the nurse can help establish a diagnosis by carefully listening to the history, with a special emphasis on bowel habits. In hirschsprung disease,, several areas must be investigated: (1) frequency of bowel movements; (2) character of stools, particularly ribbonlike and foul smelling stools; and (3) onset of constipation, especially if present since birth. Other clues in history and physical examination include poor feeding habits,, fussiness and irritability; distended abdomen; and signs of undernutrition such as think extremities, pallor, muscle weakness, and fatigue. In unusual cases when the child is managed with occasional enemas, the nurse needs to teach the parents the correct procedure and inform them of the dangers associated with using the tap water, concentrated salt solutions, soap solutions or phosphate preparations. Normal saline solution can be prepared at home by adding 1 level measuring teaspoon of non iodized salt to 1 pint of tap water. Because the instructions for preparing the solution and administering the enema require several steps, all the directions should be written down, as well as verbally explained. EMedicine (2012). http://emedicine.medscape.com/article/929733-treatment. Retrieved on July 24, 2012 If a child with Hirschsprung disease has symptoms and signs of a high-grade intestinal obstruction, initial therapy should include intravenous hydration, withholding of enteral intake, and intestinal and gastric decompression.

Decompression can be accomplished through placement of a nasogastric tube and either digital rectal examination or normal saline rectal irrigations 3-4 times daily. Administer broad-spectrum antibiotics to patients with enterocolitis. Immediately request surgical consultation for biopsy confirmation and treatment plan. While awaiting surgical intervention in the event of a planned single-stage pullthrough procedure, the baby should receive scheduled vaccinations.

Trends and Issues Walker, Allan (2008). Pediatric Gastrointestinal Disease: Pathophysiology, Diagnosis, Management.Volume 1. Pages 1039-1040 Hirschsprung diesse is a sex-modified multifactorial disorder. The generalized risk to siblings is 4% and decreases as the length of involved segment increases. In hirschsprung disease associated with known syndromes, genetic counselling may focus more on the prognosis related to the syndrome than on the recurrence risk of Hirschsprung disease. Prenatal diagnosis is possible if the mutation within the family is known. However, because the penetrance of single gene mutations is low (except for SOX10 mutations), the clinical usefulness of genetic is currently performed as a research tool and is not used in clinical assessments of recurrence risk. In addition to prenatal evaluation and assessments of recurrence risks, genetic testing in hirschsprung disease has the potential to identify significant risks for other diseases in individuals with Hirschsprung disease or their family members. Currently, this is most clearly illustrates in Hirschsprungs disease patients with RET mutation identical to those observed in individuals with MEN 11A. Mutations of RET condons

609, 618 and 620 (within exon 10) are rarely associated with MEN11A and Hirschsprungs disease. In addition, there have been rare cases of Hirschsprung disease with exon 10 mutations identical to those found in hereditary medullary thyroid carcinoma. A family history of thyroid, parathyroid or adrenal cancer should be sought in all patients with Hirschsprung disease. A recent consensus statement from an international group of endocrinologists recommends RET exon 10 mutation analysis in all children with Hirschsprung disease. Although the vast majority of these tests will be negative, the significance of identifying a MEN 11A mutation carrier to that individual and family justifies such testing. If a MEN 11A mutation is identified, first degree relatives should be screened. Prophylactic thyroidectomy in carriers should be considered before the age of 5 years as well as regular screening for pheochromocytoma ans hyperparathyroidism. Recently, Newby and colleagues assessed the in vivo vasomotor responses to endothelin B stimulation in a group of healthy adults with a history of nonsyndromic Hirschsprung disease, without regard to the length of aganglionosis or genetic mutation. They reported taht the individuals with a history of Hirschsprung disease exhibited an abnormal vascular response to the injection of the endothelin B selective agonist an dthat the pattern of abnormality suggested a defect in endothelin B signalling. This result raises the possibility that children treated for Hirschsprung disease may be at increased risk for cardiovascular disease in alulthood. Endothelin B is normally expressed on the vascular endothelium and smooth muscle, where it appears to be involved in the maintenance of basal vascular tone. Rats genetivallys deficient in endothelin B exhibit saltsensitive

hypertension. However, no associated has yet been made between Hirschsprung disease and noncongenital cardiovascular disease.

Daniels, R. et al (2010). Delmars Guide to Laboratory and Diagnostic Tests. 2nd Edition. USA: Delmar Cencage Learning Type of Test: Tissue Body Systems and Functions: Gastrointestinal System Normal Findings: Normal cells and tissues Test Results Time Frame: Within 24 hr Test rectal biopsy involves obtaining a small piece of rectal mucosa and submucosal tissue by excising a microscopic examination of cellular and tissue normality. The biopsy is an invasive procedure performed in a surgical setting. An excision or needle punch sample of body tissue is taken under sterile technique and examined microscopically for cell morphology and tissue anomalies. The tissue is excised during a protosigmoidoscopy examination using a fiberoptic endoscopic instrument, Alligator forceps is the preferred technique for anorectal lesions. Needle biopsy is used for tissue lesions, but not for large tumors. Multiple biopsies from multiple sites in the rectum and colon are preferred to better diagnose a pathological process even when an obvious lesion is apparent.

Thapar, N. (2009) New Frontiers in the Treatment of Hirschsprung Disease Retrieved on August 10, 2012

At the present time therapeutic strategies for HSCR and indeed enteric neuropathies in general remain limited to surgery, largely aimed at resection of the abnormal bowel, and, in the most severe cases, for example, total intestinal aganglionosis, the provision of artificial nutrition, and intestinal transplantation. Unquestionably these interventions have transformed the lives of people with HSCR, most of whom would otherwise not have survived beyond the neonatal period.Despite substantial surgical expertise in HSCR, often spanning the lifetime of individual surgeons, and relatively rare use of total parenteral nutrition, the postoperative morbidity data suggest the long-term outcome is not satisfactory even into adult life, highlighting the need to develop new therapies. In the last decade the tremendous advances in molecular biology and genetics have significantly enhanced our understanding of ENS development and function. This has facilitated not only knowledge of the pathogenesis of enteric neuropathies but has also coupled with equivalent progress in the field of stem cell biology, the identification of novel tools, and targets for therapies Nurko, S. (2008) Hirshsprung's Disease Retrieved on August 10,2012 Once the diagnosis is suspected, confirmation of the disorder is necessary. The final diagnosis needs to be based on the pathologic demonstration of aganglionosis with the use of rectal biopsies. Biopsies. Confirming the absence of ganglion cells in the diseased segment is a crucial step in the diagnosis of Hirschsprung's disease. There are different techniques to obtain small amounts of tissue from the rectum, and the test can usually be performed in an outpatient setting, although at times they may need to be performed in the operating room. Accuracy is excellent if the specimen is adequate, and if there is a trained

pathologist. When ganglion cells are present, the diagnosis of Hirschsprung's disease is excluded.Because obtaining biopsies involves risks, other less invasive techniques such as anorectal manometry or a barium enema can be used to select those patients that require a biopsy Anorectal manometry. In normal individuals distention of the rectal ampulla causes relaxation of the internal anal sphincter, the involuntary high pressure zone at the anal canal. This effect is mediated by the intrinsic nerves of the intestine, and it is absent in patients with Hirschsprung's disease. This relaxation can be duplicated in the motility laboratory with the use of a procedure called anorectal manometry. During anorectal manometry, a flexible balloon is introduced into the rectum, and the pressures are measured. When the balloon is inflated, the sphincter relaxes, mimicking the effect of stool. If the patient has HD, there is no sphincteric relaxation after the distention of the balloon. After the newborn period, manometry has been shown to accurately exclude or diagnose Hirschsprung's disease in 90 to 100% of the patients, with a specificity of 97% and sensitivity of 79%. Therefore in this age group, anorectal manometry is the diagnostic study of choice to exclude HD. If the study is abnormal the diagnosis needs to be confirmed by 4 biopsy. In newborns and prematures the diagnostic accuracy is less (from 70 to 90%). Barium Enema. The barium enema (BE), a procedure in which barium is instilled in the rectum, and x-ray pictures are taken, while not diagnostic, can be strongly suggestive and supportive. Barium enema is widely available, as opposed as the anorectal manometry that is performed only in specialized centers. Single contrast barium enemas are used, and the colon is not prepared. In infants with Hirschsprung's disease, a

transition zone from the distal nondilated colon is usually easily detected. The absence of a transition zone however does not exclude the diagnosis, as it may be absent in up to 20% of patients. In patients with total colonic aganglionsis the entire colon may appear normal. A barium enema may be less helpful in the newborn because a visible transition zone is often not present. However, even if there is a normal barium enema, further work up may be indicated in those patients that continue to be intractable. The treatment of Hirschsprung's disease is surgical. Initial medical management is important, however, in stabilizing the patient before surgical therapy is undertaken. This includes the correction of fluid and electrolyte imbalances, antibiotic therapy if enterocolitis is present and rectal decompression with the use of rectal irrigations and rectal tubes until the time of surgery. The basic principle for the definitive surgical therapy is resection of the aganglionic segment followed by a pull-through of ganglionic bowel down to the anus. There are different procedures that have been used, but the three most common ones are: Swenson pull-through (rectosigmoidectomy), Duhamel pull-through (retrorectal transanal pullthrough) and Soave pullthrough (endorectal pull-through). Recently the surgery is being performed in the newborn period using minimally invasive surgical techniques, like laparoscopy. It is difficult to compare the results obtained with the three techniques, because the incidence of complications may be closely related to the skill of the individual surgeon, to the institution or to the year of the study. Nevertheless, the long term outcome of these procedures appears to be similar. Surgery for Hirschsprung's disease generally results in a satisfactory outcome. There are however, some patients that

continue to have long term difficulties. A recent review of 45 patients showed that 51% had some type of bowel dysfunction, and 37.5% fecal soiling. The most common symptoms are constipation, diarrhea, and sometimes intermittent colitis.

Lucile

Packard

Childrens

Hospital

(2012).

http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/digest/hirschpr.html. Retrieved on July 24, 2012 When a person is suspected to have Hirshsprung disease, different diagnostic tests are performed. Some of them are abdominal xray, barium enema, anorectal manometry, and biopsy of the rectum or the large intestine Abdominal x-ray is a diagnostic test which may show a lack of stool in the large intestine or near the anus and dilated segments of the large and small intestine. Barium enema is a procedure performed to examine the large intestine for abnormalities. A fluid called barium (a metallic, chemical, chalky, liquid used to coat the inside of organs so that they will show up on an x-ray) is given into the rectum as an enema. An x-ray of the abdomen shows strictures (narrowed areas), obstructions (blockages), and dilated intestine above the obstruction. Anorectal Manometry is a test that measures nerve reflexes which are missing in Hirschsprung's disease. Biopsy of the rectum or large intestine is a test that takes a sample of the cells in the rectum or large intestine and then looks for nerve cells under a microscope.

Retrieved

from:

http://www.mayoclinic.com/health/hirschsprungs-

disease/DS00825/DSECTION=tests-and-diagnosis. Retrieved on July 26,2012 If Hirschsprung's is present, as stool backs up in the colon, the X-ray may reveal decreased air in the colon or areas in which the colon has stretched wider than normal.Xray using a contrast dye. A barium enema uses a contrast dye to help your doctor evaluate the entire colon with an X-ray. Barium or another contrast dye is placed into the bowel in an enema form. The barium fills and coats the lining of the bowel, creating a clear silhouette of the colon and rectum. Air may also be added to provide better contrast on the X-ray. Measuring control of the muscles around the rectum. A manometry test is typically done on older children and adults. During the manometry test, the doctor inflates a balloon inside the rectum. The surrounding muscle should relax as a result. If it doesn't, Hirschsprung's disease may be the cause. Removing a sample of colon tissue for testing. Biopsy is a procedure to remove a sample of tissue for laboratory testing. A biopsy sample can be collected using a suction device.

Trisomy 21 Definition Smeltzer, S.C. et.al. 2010. Textbook of medical surgical nursing 12th Edition. Wolters Kluwer and Lippincott Williams & Wilkins, Page 126 Down syndrome, or trisomy 21, is a common chromosomal condition that occurs with greater frequency in pregnancies of women who are 35 years of age or older. A

person with trisomy 21 has a complete extra chromosome 21, which causes a particular facial appearance and increased risk of congenital heart defects, thyroid and vision problems, and mental retardation. Pillitteri, A. (2010). Maternal and child health nursing 6th edition. Lippincott Williams and Wilkins, Page 165 Trisomy 21 occurs in about 1 in 800 pregnancies. The number of children born with the disorder is considerably less as many women choose to end pregnancies when the diagnosis is made. The physical features of children with Down syndrome are so marked that fetal diagnosis is possible by ultrasound in utero. The nose is broad and flat. The eyelids have an extra fold of tissue at the inner canthus (an epicanthal fold), and the palpebral fissure (opening between the eyelids) tends to slant laterally upward. The iris of the eye may have white specks, called Brushfield spots. The tongue may protrude from the mouth because the oral cavity is smaller than usual. The back of the head causes the skin to be so lax that the childs toe can be touched against the nose which is not possible in the average mature newborn. The fingers of many children with Down syndrome are short and thick, and the little finger is often curved inward. There may be a wide space between the first and second toes and between the first and second fingers. The palm of the hand shows a peculiar crease (a simian line), which is a singular horizontal palm crease rather than the usual three creases in the palm. Children with Down syndrome are usually cognitively challenged to some degree. The challenge can range from an intelligence quotient of 50 to 70 to a child who is profoundly affected. The extent of the cognitive challenge is not evident at birth. The fact

that the brain is not developing well is evidenced by a head size that is usually smaller than the 10th or 20th percentile at well-child health care visits. These children also appear to have altered immune function as they are prone to upper respiratory tract infections. Congenital heart disease, especially atrioventricular defects, is common. Stenosis or atresia of the duodenum, strabismus, and cataract disorders are also common. For yet as undetected reasons, acute lymphocytic leukemia occurs approximately 10 times more frequently in children with Down syndrome than in the general population. Their lifespan usually is only 50 to 60 years, because aging seems to occur faster than normal. Pillitteri, A. (2010). Maternal and child health nursing 6th edition. Lippincott Williams and Wilkins, Page 153 Meiosis is the type of cell division in which the number of chromosomes in the cell is reduced to the haploid number for reproduction. All sperm and ova undergo a meiosis cell division early in formation. During this division, half of the chromosomes are attracted to one pole of the cell and half of to the other pole. The cell then divides cleanly, with 23 chromosomes in the first new cell and 23 chromosomes in the second new cell. Chromosomal abnormalities occur if the division is uneven. The result may be that one new sperm cell or ovum has 24 chromosomes and the other has only 22.If a spermatozoon or ovum with 24 or 22 chromosomes fuses with a normal spermatozoon or ovum, the zygote will have either 47 or 45 chromosomes, not the normal 46. Down syndrome is an example of a disease in which the individual has 47 chromosomes. There are three rather than two copies of chromosome 21.

Manifestation Pillitteri, A. (2007). Maternal and Child Health Nursing:care of the childbearing and childrearing family 5th edition. California: Lippincott Williams & Wilkins. The physical features of children with Down syndrome are so marked that fetal diagnosis is possible by sonography in utero . the nose is broad and flat, the eyelids have an extra fold of tissue at the inner canthus( an epicanthal fold), and the palpebral fissure(opening between the eyelids) tends to slant laterally upward. The iris of the eye may have white specks in it, called Brushfields spots. Even in the newborn, the toungue may protrude from the mouth because the oral cavity is smaller than normal. The back of the head is flat, the neck is short, and an extra pad of fat at the base of the head causes the skin there to be so loose it can be lifted up(like a puppys neck). The ears may be l ow set. Muscle tone is poor, giving the baby a rag-doll appearance. This can be so lax that when the child lies supine, the childs toe can be touched against the nose (not possible in the average mature newborn). The fingers of many children with Down syndrome are short and thick, and the little finger is often curved inward. There may be a wide space between the first and second toes and the first and second fingers. The palm of the hand shows a pecullar crease ( a simian line) or a horizontal palm crease rather than the normal three creases in the palm. Children with down syndrome usually have some degree of cognitive challenge, but the degree can range from that of less involvement (IQ 50 to 70) to one requiring total care ( IQ less than 20). The degree of cognitive challenge is not evident at birth. Those with near average IQs may represent mosaic chromosomal patterns. The fact

that the brain is not developing well is shown by a head size that is generally under the 10th to 20th percentile. In addition, children with Down syndrome appear to have altered immune

function, making them prone to upper respiratory infections. Perhaps for this same reason, acute lymphocytic leukemia occurs approximately 20 times more frequently in children with Down syndrome than in the healthy population. Congenital heart diseases, especially atrioventricular disorders, stenosis or atresia of the duodenum, strabismus, and cataract disorders also are common. Even if children are born without an accompanying disorder such as heart disease, their lifespan is generally is only 50 60 years, as aging seems to occur faster than in other people.

Medical Management Timby, Barbara K. and Smith, Nancy E. (2005). Essentials of Nursing: Care of Adults and Children. Philadelphia: Lippincott Williams & Wilkins. Pg. 111-112 The physical characteristics of the child with Down syndrome determine the medical and nursing management. Lax muscles, congenital heart defects, and dry skin contribute to many problems. Relaxed muscle tone may contribute to respiratory complications as a result of decreased respiratory expansion. Relaxed skeletal muscles contribute to late motor development. Gastric motility is also decreased, leading to problems with constipation. Congenital heart defects and vision or hearing problems add to complexity of the child care. In infancy, large tongue and poor muscle tone may contribute to difficulty breastfeeding or ingesting formula and can cause great problems when the time comes to introduce solid foods. Family caregivers need support during

these trying times. As the child gets older, concern about excessive weight gain becomes a primary consideration. Kaneshiro, Neil K. M.D. (2010). Down Syndrome. Retrieved December 30, 2011 from http://www.nlm.nih.gov/medlineplus/ency/article/000997.htm There is no specific treatment for Down syndrome. A child born with a gastrointestinal blockage may need major surgery immediately after birth. Certain heart defects may also require surgery. When breast-feeding, the baby should be well supported and fully awake. The baby may have some leakage because of poor tongue control. However, many infants with Down syndrome can successfully breast-feed. Obesity can become a problem for older children and adults. Getting plenty of activity and avoiding high-calorie foods are important. Before beginning sports activities, the child's neck and hips should be examined. Behavioral training can help people with Down syndrome and their families deal with the frustration, anger, and compulsive behavior that often occur. Parents and caregivers should learn to help a person with Down syndrome deal with frustration. At the same time, it is important to encourage independence. Adolescent females and women with Down syndrome are usually able to get pregnant. There is an increased risk of sexual abuse and other types of abuse in both males and females. It is important for those with Down syndrome to: Be taught about pregnancy and taking the proper precautions, Learn to advocate for themselves in difficult situations and be in a safe environment. If the person has any heart defects or problems, check with the physician about the need for antibiotics to prevent heart infections called endocarditis. Special education and training is offered in most communities for children with delays in mental development. Speech therapy may help

improve language skills. Physical therapy may teach movement skills. Occupational therapy may help with feeding and performing tasks. Mental health care can help both parents and the child manage mood or behavior problems. Special educators are also often needed.

Nursing Management Ricci, Susan Scott and Kyle, Terri (2009). Maternity and Pediatric Nursing. China: Wolters Kluwer Health. Pg. 1675-1676 Nursing Management focuses on providing supportive measures such as promoting growth and development, preventing complications, promoting nutrition, and providing support and education to the child and the family. Children with Down Syndrome tend to grow more slowly, learn more slowly, have a shorter attention span, and have trouble with reasoning and judgement. Nurses play a key role in connecting families with appropriate resources that can facilitate the childs growth and development. Speech and language therapy, occupational therapy and physical therapy will be important in promoting childs growth and development. Special education should fit the childs needs and should be integrated into main stream education whenever possible. Children with Down Syndrome may have difficulty sucking and feeding due to lack of muscle tone. They tend to have small mouth; a smooth, flat, large tongue and due to under developed nasal bone, chronically stuffy noses. This may lead to poor nutritional intake and problems with growth. These problems may be improved if the child gain tongue control. Use of bulb syringe, humidification, and changing infants position can lessen the problem. Breastfeeding the baby with Down Syndrome is usually possible. The

antibodies in the breastmilk of the mother can help to fight infection. Speech and occupational therapist can help in strengthening muscles and feeding accommodation. These children dont need a special diet unless underlying condition on gastrointestinal is present. A balanced high fiber diet, and regular exercise is important. Research has suggested that children with Down syndrome have lower basal metabolic rate which can lead to problems with obesity so it is important to develop an appropriate eating habits and regular exercise. High Fiber diet is important since lack of muscle tone may decrease gastric motility and produce constipation. Down syndrome is a lifelong disorder that can result to health problems and cognitive disability. Evaluate how the family defines and manage this experience. Base the plan of care in the family values, beliefs, strength and resources. Ranweiler, Rachel MS, NNP and Merritt, Linda MSN, RNC (2009). Assessment and Care of Newborn with Down Syndrome. Retrieved on December 27, 2011 from http://www.nursingcenter.com/prodev/ce_article.asp?tid=845999 Implications for nursing care, when presented with an infant exhibiting the clinical manifestations of Down syndrome, include providing a thorough, systematic, head-to-toe physical assessment of the newborn and offering information and support as needed. The birth of an infant with a congenital anomaly or the birth of an infant who is acutely ill elicits feelings of loss, guilt, and confusion for parents. Nurses must expect grief reactions and help the family cope with the crisis. However, it is important to note that not all parents respond the same, and the diagnosis of Down syndrome may not be seen as a crisis for all new parents. Strategies to help parents cope include support for early contact between the parents and the infant and explanations with factual

information of the infant's condition and plan of care. It is important that the information include a good balance of the challenges as well as the possible positives such as the love, joys, and rewards that can come from raising any child. New parents are often given nothing but the details of everything that can go wrong. Parents also need reasons to be hopeful about their child. Anecdotal information about particular individuals with Down syndrome, information about early intervention, and the opportunity to contact other parents of children with Down syndrome are helpful. The lines of communication must be kept open to reinforce information that the family may have trouble processing and to assist the family in responding to its grief. If diagnosed prenatally, consultation with those previously involved with the family and notification to the primary care provider for immediate follow-up and support to the family can be an anticipated nursing intervention. In addition, providing the family with written information on local and national support groups can be beneficial. The nurse may offer to call a local support group on behalf of the parents. Many parents may want this support but find it difficult to make the call themselves.

Trends and Issues KARYOTYPING Star, C. et al. (2008). Biology: The Unity and Diversity of Life. USA: Brooks/Cole Cengage Learning Sometimes the structure of a chromosome can change during mitosis or meiosis. Chromosome number can change also. A diagnostic tool called karyotyoing helps us determine an individuals diploid complement of chromosomes. With this procedure,

cells taken from an individual are put into a fluid growth medium that stimulates mitosis. The growth medium contains colchicines, a poison that binds tubullin and so interferes with assembly of mitotic spindles. The cells enter mitosis, but the colchicines prevents them from dividing, so their cell cycle stops at metaphase. The cells and the medium are transferred to a tube. Then, the cells are separated from the liquid medium, and a hypotonic solution is added. The cells swell up with water, so the chromosomes inside of them move apart. The cells are spread on a micoroscope slide and stained so the chromosomes become visible with a microscope. The microscope reveals metaphase chromosome in every cell. A micrograph of a single cell is digitally rearranged so the images of the chromosomes are lined up by centromere location, and arranged according to size, shape and length. The finished array constitutes the individuals karyotype, which is compared with a normal standard. The karyotype shows whether there are extra or missing chromosomes. Some other kinds of structural abnormalities are also visible. Chiu, Rosa. Et. al; 2011; Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study Prenatal diagnosis of trisomy 21 requires invasive sampling of fetal genetic material through amniocentesis or chorionic villus sampling. However, these tests carry a risk of miscarriage of about 1%, and they are therefore reserved for pregnancies considered to be at high risk of fetal trisomy 21. The traditional method of identifying the high risk group has been increased maternal age, but screening by this method would require invasive testing in about 5% of pregnant women and identify only 30% of affected fetuses. In the past 20 years maternal age has been combined with

ultrasonographic examination of the fetus and biochemical measurement of various proteins or hormones in the maternal circulation to improve identification of high risk pregnancies. This combined approach of screening can now identify more than 90% of affected fetuses, but there is still a need for invasive testing in 35% of the population. Cell-free DNA from the fetus has been found in the plasma of pregnant women, and this has been used successfully for non-invasive determination of the fetal sex and fetal RhD genotype in RhD negative women. The basis of these tests is the detection of fetalspecific DNA sequences in maternal plasma. The same approach of searching for fetalspecific nucleic acids, such as DNA methylation and mRNA markers in maternal plasma, has been proposed for non-invasive detection of fetal aneuploidies. The advantages and disadvantages of these approaches have been reviewed in detail. An alternative approach for non-invasive prenatal diagnosis of fetal trisomy 21 is to show the presence of an elevated amount of chromosome 21 sequences in maternal blood, because there are three rather than two copies of fetal chromosome 21. However, fetal DNA molecules amount to just 1020% of the total DNA circulating in the maternal plasma, so any increment in the total amount (fetal and maternal) of chromosome 21 DNA molecules in the plasma of a trisomy 21 pregnancy would be substantially diluted by contributions from the mother. The difficulty in measuring such a small increment in chromosome 21 DNA concentration has recently been overcome with the use of massively parallel genomic sequencing. This technique can identify and quantify millions of DNA fragments in biological samples in a span of days. Three cohort studies have shown the feasibility of using the technique to identify fetuses with trisomy 21 by analysis of maternal plasma

DNA. The sample numbers studied were small because, typically, only a few samples could be analysed in each sequencing run. The objective of this study is to validate the diagnostic performance and practical feasibility of massively parallel genomic sequencing for the non-invasive prenatal assessment of trisomy 21 in a large number of pregnancies that have undergone conventional screening and were clinically indicated for definitive testing by amniocentesis or chorionic villus sampling. (internet) Association of Trisomy 21 and Hirshsprungs Disease Koplay (2011) Hirschsprung Disease in a Patient with Down Syndrome Retrieved on August 10, 2012 Down Syndrome (DS) is a common chromosomal anomaly resulting from trisomy 21 The incidence is approximately 1 in 700-800 live births. It is clinically diagnosed by its characteristic features including craniofacial dysmorphic physical appearance, mental retardation and systemic anomalies such as cardiac and gastrointestinal defects The association of DS with anomalies of gastrointestinal system such as tracheoesophageal fistulas, duodenal atresia (DA) esophageal atresia, imperforate anus and Hirschsprungs disease (HD) is well established The DA associated with HD in a patient with DS is rare presented in literature MayoClinic(2012).http://www.mayoclinic.com/health/hirschsprungsdisease/DS00825/DSECTION=risk-factors. Retrieved on July 24, 2012 Factors that may increase the risk of Hirschsprung's disease include genetics, gender, and chromosomal defects.

Hirschsprung's disease is associated with certain inherited conditions, such as inherited heart problems and Down syndrome. Hirshsprung disease is also more common in males and there are some instances that the disease is inherited from a generation of the family.

Synthesis According to Leifler G., 2007, pediatric nurses work in specialized units at medical facilities, such as neonatal units and children hospitals. A pediatric nurse must be knowledgeable of the appropriate psychomotor and social skills of infants and children, as well as cognitive growth development of both children and adolescents. Steve, J., 2010 stated that a Pediatric Nurse Practitioner (PNP) is an advanced practice registered nurse who provides health care to children from birth through 21 years of age, and in specific situations, to individuals older than the age of 21 years. Pediatric nursing according to Margo, 2012, is the specialty nursing care of babies, children and adolescents. The breadth of this field of practice may be considered as similar to that of adult nursing, with an equivalent sub-specialty for most adult illnesses and some unique areas of practice. Leifler G., 2007 and Academy of Pediatrics, 2011, defined pediatrics as the branch of medicine that deals with the childs development and care and the diseases of childhood and their treatment. The word is derived from the greek pais, paidos, meaning child, and iatreia, cure. It is the specialty of medical science concerned with the physical, mental and social health of children from birth to young adulthood. Based on the works of Pilliteri, 2010, Freud termed the infancy period as the oral phase. It is because infants are so interested in oral stimulation or pleasure during this

time. As for Erikson, infants learning is trust versus mistrust; learning to trust themselves and others. Piaget on the other hand stated that the infant stage is a sensorimotor stage. Piaget used the term primary to refer to activities related to a childs own body and the term circulatory reaction to show that repetition of behavior occurs. According to Learning Speed, 2010, newborns are in the sensorimotor stage. Inborn reflexes include rooting (turning their heads towards something that touches their cheek), sucking (the tendency to suck at things that touch their lips), stepping (the movement of legs when they are held with their feet touching the floor). Meyerhoff, 2011 expounded that the period of trust covers the early months in an infant's life and is so called because babies need to establish confidence in their parents and in their environment. There are five common illnesses of the newborn stated by BC Center for Disease Control, 2009. These are hyperthermia, Chickenpox, Cold sores, Croup, and E coli associated illnesses. From the site of

www.pediatrics.about.com/od/diseasesandconditions/Common_Pediatric_Diseases_and_ Conditions. htm. retrieved last July 24,2012, ten usual illnesses that pediatric clients have: Asthma, Eczema, Gastroenteritis, Impetigo, Otitis media, Pinworms, Scabies, Strep throat, Urinary tract infection, and Dermatitis. BC Center for Disease Control, 2009 also mentioned that among newborn, the hyperthermia happens to be an indicator of any possible underlying condition. 65% of the newborn population experienced this illness. Chickenpox usually happens in early

childhood. Almost 85% of pediatric clients had this illness, 35% for Cold sores, 15% for Croup, and almost 47% for E coli associated illnesses. Hirschsprungs Disease according to Smeltzer, 2011, is a common cause of a neonatal intestinal obstruction that is of great interest to pediatric surgeons throughout the world. It is a congenital condition in which a portion, or occasionally the whole, of the colon has no ganglion cells. Patients with Hirschsprungs disease characteristically do not pass meconium during the first 24 hours of life. Abdominal distention and vomiting may endue, and the general condition of the patient may deteriorate. The etiology is unclear. Arrested orocaudad migration of the ganglion cells is one theory. The primary diagnostic test is a contrast enema, which shows a normal caliber aganglionic degment of the cilon beginning at the anus , followed proximally by a dilated colon with a transition zone in between . The diagnosis is confirmed by a suction rectal biopsy, which shows the characteristic lack of ganglion cells , increased activity of the acetyl cho Hirschsprung's disease is a common cause of a neonatal intestinal obstruction that is of great interest to pediatric surgeons throughout the world. Thapar, 2009 explained that Hirschsprung disease (HSCR) is the most common identifiable developmental disorder of the enteric nervous system (ENS) with an incidence of 1:5000 live births. Nurko, 2008 mentioned that the abnormal segments produce mechanical obstruction because of failure to relax during peristalsis. Hirschsprung's disease always starts in the anal verge, but the length of the segment without ganglion cells (aganglionic) varies: it is limited to the rectum and sigmoid in 75% of patients; involves the whole colon in 8%; and rarely involves the small bowel.

He also had a research that the incidence of Hirschsprung's disease varies from 1 in 5,000 to 1 in 10,000 live births. There appears to be a male preponderance with a ratio of 3:1 to 5:1, particularly in those with short segments. The diagnosis is established in 15% within the first month of life, in 40-50% in the first 3 months, in 60% at the end of the first year of age, and in 85% by 4 years. The symptoms vary with the age of the patient and the extent of the disease. In the newborn period, bilious emesis, abdominal distention, and failure to pass meconium or abnormal stool frequency are common. Complete intestinal obstruction and perforation of the cecum or the appendix may occur. Wilson, 2007 stated about the nursing care and management for a client with Hirschsprungs Diesease. Observation of passage of meconium and bowel patterns in the neonatal period is an important factor in early diagnosis. If the disorder is diagnosed during the neonatal period, the main objectives are helping the parents adjust to the congenital disorder, fostering infant-parent bonding, preparing the parents for the medical-surgical interventions, and assisting them in caring for the colostomy after discharge. According to Walker, 2008, Hirschsprung disease is a sex-modified multifactorial disorder. The generalized risk to siblings is 4% and decreases as the length of involved segment increases. In hirschsprung disease associated with known syndromes, genetic counselling may focus more on the prognosis related to the syndrome than on the recurrence risk of Hirschsprung disease. Prenatal diagnosis is possible if the mutation within the family is known.

Recently, Newby and colleagues assessed the in vivo vasomotor responses to endothelin B stimulation in a group of healthy adults with a history of nonsyndromic Hirschsprung disease, without regard to the length of aganglionosis or genetic mutation. They reported taht the individuals with a history of Hirschsprung disease exhibited an abnormal vascular response to the injection of the endothelin B selective agonist an dthat the pattern of abnormality suggested a defect in endothelin B signalling. This result raises the possibility that children treated for Hirschsprung disease may be at increased risk for cardiovascular disease in alulthood. Daniels explain that Test rectal biopsy involves obtaining a small piece of rectal mucosa and submucosal tissue by excising a microscopic examination of cellular and tissue normality. The biopsy is an invasive procedure performed in a surgical setting. An excision or needle punch sample of body tissue is taken under sterile technique and examined microscopically for cell morphology and tissue anomalies. Lucile Packard Childrens Hospital, 2012 stated the different diagnostic tests done in a client with Hirschsprung Disease. Some of them are abdominal xray, barium enema, anorectal manometry, and biopsy of the rectum or the large intestine. Smeltzer, 2010 and Pilliteri, 2010, discussed about Down syndrome or also known as trisomy 21. It is a common chromosomal condition that occurs with greater frequency in pregnancies of women who are 35 years of age or older. A person with trisomy 21 has a complete extra chromosome 21, which causes a particular facial appearance and increased risk of congenital heart defects, thyroid and vision problems, and mental retardation.

Trisomy 21 occurs in about 1 in 800 pregnancies. The number of children born with the disorder is considerably less as many women choose to end pregnancies when the diagnosis is made. The physical features of children with Down syndrome are so marked that fetal diagnosis is possible by ultrasound in utero. The nose is broad and flat. The eyelids have an extra fold of tissue at the inner canthus (an epicanthal fold), and the palpebral fissure (opening between the eyelids) tends to slant laterally upward. The iris of the eye may have white specks, called Brushfield spots. The tongue may protrude from the mouth because the oral cavity is smaller than usual. The back of the head causes the skin to be so lax that the childs toe can be touched against the nose which is not possible in the average mature newborn. The fingers of many children with Down syndrome are short and thick, and the little finger is often curved inward. There may be a wide space between the first and second toes and between the first and second fingers. The palm of the hand shows a peculiar crease (a simian line), which is a singular horizontal palm crease rather than the usual three creases in the palm. Meiosis is the type of cell division in which the number of chromosomes in the cell is reduced to the haploid number for reproduction. All sperm and ova undergo a meiosis cell division early in formation. During this division, half of the chromosomes are attracted to one pole of the cell and half of to the other pole. The cell then divides cleanly, with 23 chromosomes in the first new cell and 23 chromosomes in the second new cell. Chromosomal abnormalities occur if the division is uneven. The result may be that one new sperm cell or ovum has 24 chromosomes and the other has only 22.If a spermatozoon or ovum with 24 or 22 chromosomes fuses with a normal spermatozoon or

ovum, the zygote will have either 47 or 45 chromosomes, not the normal 46. Down syndrome is an example of a disease in which the individual has 47 chromosomes. There are three rather than two copies of chromosome 21. According to Timby and Smith, 2005, physical characteristics of the child with Down syndrome determine the medical and nursing management. Lax muscles, congenital heart defects, and dry skin contribute to many problems. Relaxed muscle tone may contribute to respiratory complications as a result of decreased respiratory expansion. Relaxed skeletal muscles contribute to late motor development. Gastric motility is also decreased, leading to problems with constipation. Congenital heart defects and vision or hearing problems add to complexity of the child care. In infancy, large tongue and poor muscle tone may contribute to difficulty breastfeeding or ingesting formula and can cause great problems when the time comes to introduce solid foods. Family caregivers need support during these trying times. As the child gets older, concern about excessive weight gain becomes a primary consideration. Kaneshiro, 2010 said that there is no specific treatment for Down syndrome. A child born with a gastrointestinal blockage may need major surgery immediately after birth. Certain heart defects may also require surgery. Terri and Scott, 2009 mentioned the nursing management for a child with trisomy 21. It focuses on providing supportive measures such as promoting growth and development, preventing complications, promoting nutrition, and providing support and education to the child and the family. Meritt, 2009 discussed the implications for nursing care, when presented with an infant exhibiting the clinical manifestations of Down syndrome, include providing a

thorough, systematic, head-to-toe physical assessment of the newborn and offering information and support as needed. The birth of an infant with a congenital anomaly or the birth of an infant who is acutely ill elicits feelings of loss, guilt, and confusion for parents. Nurses must expect grief reactions and help the family cope with the crisis. However, it is important to note that not all parents respond the same, and the diagnosis of Down syndrome may not be seen as a crisis for all new parents. According to Star, 2009, Sometimes the structure of a chromosome can change during mitosis or meiosis. Chromosome number can change also. A diagnostic tool called karyotyoing helps us determine an individuals diploid complement of chromosomes. With this procedure, cells taken from an individual are put into a fluid growth medium that stimulates mitosis. The growth medium contains colchicines, a poison that binds tubullin and so interferes with assembly of mitotic spindles. The cells enter mitosis, but the colchicines prevents them from dividing, so their cell cycle stops at metaphase. Chiu, 2011 stated that Prenatal diagnosis of trisomy 21 requires invasive sampling of fetal genetic material through amniocentesis or chorionic villus sampling. However, these tests carry a risk of miscarriage of about 1%, and they are therefore reserved for pregnancies considered to be at high risk of fetal trisomy 21. The traditional method of identifying the high risk group has been increased maternal age, but screening by this method would require invasive testing in about 5% of pregnant women and identify only 30% of affected fetuses. In the past 20 years maternal age has been combined with ultrasonographic examination of the fetus and biochemical measurement of various proteins or hormones in the maternal circulation to improve identification of high risk

pregnancies. This combined approach of screening can now identify more than 90% of affected fetuses, but there is still a need for invasive testing in 35% of the population. Koplay, 2011 explained that Down Syndrome (DS) is a common chromosomal anomaly resulting from trisomy 21. The association of DS with anomalies of gastrointestinal system such as tracheoesophageal fistulas, duodenal atresia (DA) esophageal atresia, imperforate anus and Hirschsprungs disease (HD) is well established. The DA associated with HD in a patient with DS is rare presented in literature. MayoClinic, 2012 has mentioned that the factors which may increase the risk of Hirschsprung's disease include genetics, gender, and chromosomal defects. Hirschsprung's disease is associated with certain inherited conditions, such as inherited heart problems and Down syndrome. Hirshsprung disease is also more common in males and there are some instances that the disease is inherited from a generation of the family.