Hypospadia and G6PD Deficient

At birth the pediatrician told me Mirage has Hypospadia. What is Hypospadia? Hypospadias is a birth defect in boys in which the opening of the urethra (the tube that carries urine from the bladder to the outside of the body) is not located at the tip of the penis. In boys with hypospadias, the urethra forms abnormally during weeks 8–14 of pregnancy. The abnormal opening can form anywhere from just below the end of the penis to the scrotum. There are different degrees of hypospadias; some can be minor and some more severe. The type of hypospadias a boy has depends on the location of the opening of the urethra: Subcoronal: The opening of the urethra is located somewhere near the head of the penis. Midshaft: The opening of the urethra is located along the shaft of the penis. Penoscrotal: The opening of the urethra is located where the penis and scrotum meet. Boys with hypospadias can sometimes have a curved penis. They could have problems with abnormal spraying of urine and might have to sit to urinate. In some boys with hypospadias, the testicle has not fully descended into the scrotum. If hypospadias is not treated it can lead to problems later in life, such as difficulty performing sexual intercourse or difficulty urinating while standing. It is estimated that each year about 5 boys out of every 1,000 born in the United States have hypospadias. After explaining to us about Hypospadia he told us our son can have an operation to correct it.We told him No Operation. He was also positive for G6PD Deficiency the result of the new born screening Test. G6PD deficiency is an inherited condition. If someone is G6PD deficient their body does not produce enough of the enzyme glucose-6-phosphate dehydrogenase (G6PD). G6PD helps red blood cells to function properly. G6PD also protects red blood cells from certain substances that are harmful to the body. If a person with G6PD deficiency is exposed to these substances, their red blood cells can be damaged or destroyed. G6PD deficiency can be serious if it is not diagnosed. Otherwise, with proper care and the right precautions, a child with G6PD deficiency can live a normal and active life.

Function Problems

Eating difficulties Babies with Down syndrome often have difficulties with eating, particularly if they are born prematurely. This may be a result of low muscle tone (hypotonia) and oral muscular difficulties with coordinating sucking and swallowing. Eating problems can also be associated with other medical problems. For instance, babies with Down syndrome may also have heart problems that could cause them to tire easily, or be short of breath and not able to eat adequately. There are many methods that may help with eating problems including holding the baby in different positions while they eat, stimulating the baby to suck such as stroking their cheek, and, in bottle fed babies, trying different nipples or bottles. Sometimes the baby is not able to eat adequately despite these measures and it may be necessary to feed the baby via a naso-gastric tube for a while. This is a small, flexible tube that is passed into the nostril, down the esophagus and into the stomach. This is usually only necessary for a short period of time. Gastro-esophageal reflux This occurs when food that had already passed into the stomach and beyond comes back up into the esophagus and may be vomited up. Most healthy babies (and even older children and adults) experience this occasionally. It is more common in babies because their diet is made up of liquids and therefore more easily brought back up. Babies with Down syndrome are more likely to have reflux, likely because the muscles of the stomach and esophagus that push food along seem to work less effectively. Symptoms may be very mild and are able to be managed with simple methods such as holding the baby in an upright position after they are done eating. However, if the vomiting is considerable the child may not gain weight. Also the acid contents of the stomach irritate the lower esophagus and can cause discomfort and sometimes bleeding from the esophageal wall. This in turn may cause anemia. In these cases, medical treatment is necessary. Different types of medicine are normally used, often in combination. They work in a number of ways - by preventing the stomach contents flowing back, by neutralizing the stomach acid, and by improving the gastrointestinal motility. Rarely these measures won't be enough to control the problem and an operation to tighten up the area between the esophagus and stomach could be necessary. Malabsorption This is a condition in which the bowels are unable to absorb particular nutrients from food. This causes a depletion of some nutrients and poor digestion. Children with malabsorbtion problems also experience serious vitamin and mineral deficiencies. While supplementation may help, if the gut can’t absorb the nutrients from food, they will have similar difficulties absorbing supplements as well. It is important for parents to work with their child’s healthcare practitioner to determine the best course of action regarding nutrient deficiencies and supplementation. Celiac Disease is a type of malabsorption that is more common in Down syndrome. This condition is, in essence, a food allergy or intolerance to the protein called gluten. Gluten is the common name for the proteins in specific grains that are harmful to persons with celiac disease. These proteins are found in ALL forms of wheat (including durum, semolina, spelt, kamut, einkorn and faro) and related grains rye, barley and triticale and MUST be eliminated. Also to be noted is that some people may be sensitive to corn and soy products since the proteins in corn and soy are similar in make up. When people with celiac disease eat foods containing gluten, an immune-mediated toxic reaction is created causing damage to the small intestine and does not allow food to be properly absorbed. Even small amounts of gluten in foods can affect those with celiac disease and cause health problems. Damage can occur to the small bowel even when there are no symptoms present. Infants, toddlers, and young children often exhibit growth failure, vomiting, abnormal stools, bloated abdomen, tiredness, and behavioral changes. The following are some of the related health problems that may occur as a result of celiac disease: Iron deficiency anemia Early onset osteoporosis Vitamin K deficiency associated with risk for hemorrhaging Vitamin and mineral deficiencies Central and peripheral nervous system disorders - usually due to unsuspected nutrient deficiencies Pancreatic insufficiency Intestinal lymphomas and other GI cancers (malignancies) Neurological manifestations Gall bladder malfunction Specific antibody blood tests help identify the presence of CD and are the initial step in screening and should include the following tests: Endomysial antibody (EMA-IgA) Tissue transglutaminase antibody (tTG - IgA/IgG) Anti-gliadin antibody (AGA-IgG, AGA-IgA) Total serum IgA The exception is children under the age of 2 years in which tTG and EMA may not be present. Parents should talk to their child’s doctor regarding these tests. It is essential that patients with positive antibody tests, and those with an IgA deficiency have a small bowel biopsy (which is performed endoscopically) to confirm the diagnosis and assess the degree of damage to the villi in the intestinal lining. Because celiac disease is a chronic disorder, the only treatment is the lifelong adherence to the gluten-free diet. When gluten is removed from the diet, the small intestine will start to heal and overall health improves over time. Medication is usually not required. A child diagnosed with celiac disease should have medical follow-up to monitor the clinical response to the gluten-free diet. Adapting to the gluten-free diet requires lifestyle changes. It is essential to read labels and learn how to identify foods that are appropriate for the gluten-free diet and do not contain gluten.

Structural Problems

Around ten percent of children born with Down syndrome will have one of the following structural problems. The most common problems are discussed below. Small bowel obstruction A small bowel obstruction occurs when something is blocking the small bowel so food is unable to pass from the stomach to the large bowel. This can be a complete obstruction; where part of the bowel has failed to form at all, or a partial obstruction; where the bowel has formed but is narrower than a normally formed small bowel. When the blockage is severe, it may be detectable before birth using an ultrasound scan. If the problem is not detected before birth, problems will usually present in the first few hours or days of life with vomiting or failure to pass stools. A less severe obstruction may not present so obviously, but vomiting is still likely to be the main symptom. An x-ray is the best way to determine if there is a blockage and surgery is the most common form of treatment. The surgery involves removing the blocked section of bowel and reattaching again. In a small number of milder cases, surgery may be avoided through dietary intervention. Abnormalities of the anus Sometimes babies are born without an anal opening (Imperforate anus). This is not common but occurs more often in children with Down syndrome. This condition is noticed at birth and requires immediate action. The extent of corrective surgery depends on the severity of the abnormality. Less severe problems occur when the anal opening is narrow thus causing constipation. In less severe cases, the opening can sometimes be stretched while the child is under anesthesia. The more severe cases require corrective surgery. Annular Pancreas This problem is similar to an obstruction. The pancreas normally lies behind the lower part of the stomach and the first part of the small bowel. With this condition, the pancreas encircles the duodenum (the first short section of the small intestine immediately beyond the stomach) causing narrowing or blockage. Hirschprung's disease Hirschprung's disease is a relatively rare condition that tends to be found more often in children with Down syndrome (approximately two percent of children with Down syndrome). It is an abnormality of the lower part of the large bowel where part of the bowel wall is missing nerve cells. This means it cannot do its normal work of evacuating stools. Sometimes a long segment of bowel wall is affected. In this case it may be obvious in the newborn period because the baby does not pass any stools. More often these babies have chronic constipation, poor weight gain, vomiting and a swollen abdomen. If however only a short part of the bowel is involved (short segment Hirschprung's disease) symptoms are less severe. It is in these children that the diagnosis may be easily missed. It is important to consider the possibility of short segment Hirschprung's in any child whose constipation persists despite dietary measures and simple laxatives. A diagnosis is made through a thorough medical examination, X-ray and biopsy of the bowel. Treatment usually involves surgery to remove the diseased part of the bowel. Sometimes it is necessary to use a colostomy after surgery. This is when the upper end of the remaining bowel is temporarily attached to an opening or stoma in the abdominal wall, through which stools are passed into a bag. This allows the bowel to heal. Then the sections of bowel can be reattached.

Gastrointestinal Issues

Problems with the gastrointestinal tract can either be caused by abnormal structure or may be because part of the tract is not functioning properly. Children with Down syndrome are more likely to have problems in both of these areas than the general population. Some of these problems are serious and life threatening and are likely to cause immediate problems in a newborn. Other issues may not be as serious, but nevertheless can cause considerable problems. Sometimes, gastrointestinal problems may not be noticeable by parents or doctors because some issues develop more slowly. Gastrointestinal problems are a common cause of illness in all children. The more common problems include gastroenteritis (an infection affecting the stomach and intestines) and appendicitis. Regarding typical stomach and digestive problems, children with Down syndrome are no different than typically developing children. However, if a child with Down syndrome seems to have more gastrointestinal problems it is important to have a medical assessment which should consider both the common conditions as well as those that tend to more often affect children with Down syndrome. Symptoms of Gastrointestinal Disorders Found in Children with Down Syndrome As with any health issue, there are numerous symptoms that occur with gastrointestinal tract problems. The following sections discusses some of these symptoms. Vomiting All children vomit from time to time. In babies this may just be a small amount of undigested milk that is brought back after eating and is not usually a sign of an underlying disease or problem. It can often be helped by careful attention to feeding technique, avoiding taking in too much air and keeping the baby upright they eating for about half an hour. Children may also vomit when they are ill (e.g., flu, chicken-pox or other viruses). In these situations the vomiting is usually short lived and goes away when the underlying problem is resolved. If vomiting is severe, frequent (i.e. more than a few times a day) or prolonged (lasting more than a few days) a visit to the doctor’s is warranted. Other signs that the problem is more serious include bile stained vomit, or blood in the vomit. This may look dark brown or like coffee grounds mixed in the vomit. Diarrhea Diarrhea is defined as frequent passing of loose, watery stools. It is impossible to specify how loose, or how often is “normal,” since every person is different. Many infants and toddlers (and some adults) will have several loose stools a day as their normal pattern. There will also be normal, healthy variations depending on what we eat and drink. The important thing is to notice if there is a significant change from the child's normal pattern that lasts more than a few days. Sometimes stools may be particularly bulky, foul smelling or look frothy or greasy. This may be a sign that something is not being absorbed properly in the diet. Constipation Most people get constipated from time to time. Very hard stools can be a problem in themselves as they can be painful to pass and cause a small amount of bleeding on the way out. Sometimes constipation is not identified because the child is continuing to pass small amounts of liquid stools. This happens when hard, dry stool is retained in the rectum, while small amounts of liquid stool seep around the sides, often resulting in soiling. Constipation is a common problem in children with Down syndrome, and in most cases it is not because of an underlying disease. It is likely a result of a combination of low muscle tone, poor motility, diet, and inadequate intake of fluids. Giving extra fluids, fruit and increasing fiber may solve the problem, or it may be necessary for a doctor to prescribe a stool softener. If constipation is severe or persists despite these measures, then other causes should be considered. Hypothyroidism, a common problem for children with Down syndrome, can cause constipation. Another cause of constipation is Hirschprung's Disease. Stomach Pain Children often complain of stomach aches. In many cases it is nothing to do with the gastrointestinal tract but is a general symptom of being unwell, or it may be the child's way of explaining a pain somewhere else in the body. It may also be a symptom of anxiety. Stomach pain is often caused by constipation. Advice should be sought from a doctor if it persists or if it is associated with other symptoms such as vomiting or the pain seems to be severe. Stomach pain may also be related to the esophagus (heartburn or indigestion). Reflux tends to cause these problems. Reflux (discussed below) is more common in babies with Down syndrome and should be checked if the baby seems to be in pain; especially after eating. Poor Weight Gain This can be a symptom of many childhood disorders. It is often associated with gastrointestinal problems. Although the above mentioned gastrointestinal problems may not generally be serious, if they are associated with poor weight gain or weight loss, the help of a doctor is recommended. It should be noted that children with Down syndrome do grow more slowly when compared with other children. They tend to be of shorter stature than their typical peers. Along with height differences, there are also different weight “standards” for children with Down syndrome. Like all children, there is considerable variation in size and weight so a child's actual weight is not as important as the rate of weight gain or the comparison with previous weight or height measurements for that child.

Other Heart Related Problems in Children with Down Syndrome

Other Heart Related Problems in Down Syndrome In addition to the heart defects associated with Down syndrome, high blood pressure in the lungs (pulmonary hypertension) is more common in people with Down syndrome. This high blood pressure may be a result of malformation of the lung tissue, but the exact cause is not known. Higher blood pressure may limit the amount of blood flow to the lungs and therefore decrease the likelihood of symptoms of congestive heart failure seen in babies with complete AV canals or large ventricular septal defects. This then causes the problem of delaying a possible needed surgery to close holes in the heart. These babies must be watched carefully in order to determine the best time for surgery. Tests to Diagnose Congenital Heart Disease in Babies with Down Syndrome The majority of cardiologists agree that all babies diagnosed with Down syndrome should have a cardiology evaluation. This is because of the high incidence of associated congenital heart defects. A good history and physical examination should be performed by an experienced cardiologist to rule out any obvious heart defect. An electrocardiogram should be performed. This can be very helpful in making the diagnosis of AV canal, even when physical symptoms are absent. Some doctors also choose to perform at least one echocardiogram to rule out other subtle heart problems. If the diagnosis of congenital heart disease is made, the cardiologist normally follows up with the child through routine office visits. Most patients can be watched clinically to determine if the child is having difficulty because of the heart defect. Occasionally, a repeat electrocardiogram, chest X-ray, or echocardiogram is performed to further evaluate clinical changes. These tests are likely to be repeated before surgical repair is recommended. Rarely, a cardiac catheterization is required for complete evaluation prior to corrective surgery, especially in children where elevated pressures in the lungs are a concern. Parents of a child with Down syndrome need to work closely with their child’s doctor(s) to determine what route (surgical or medical) will best serve their child.

What is ASD?PDA?Tetralogy of Fallot?

What is ASD? In this defect there is a hole between the top chambers (receiving chambers or atria). Because of the higher pressure in the left side of the heart, oxygenated blood flows through the hole from the left to the right side of the heart, and back to the lungs, in addition to the normal flow. There are three types of Atrial Septal Defect; the most common is when there is a hole in the middle of the central heart wall. Holes in the lower part of the septum, called the primum defect (partial atrioventricular septal defect), are often associated with a problem of the mitral valve that often results in a leak. Less common are sinus venosus defects or holes in the top of the septum. These are associated with an abnormality of the right upper lung vein. Symptoms Generally patients with an ASD defect will exhibit no symptoms and the problem is only found when a routine clinical examination detects a heart murmur. Occasionally children with this problem will exhibit poor weight gain and a failure to thrive, and if there is mitral valve leakage there may be early symptoms of breathlessness. Treatment Small holes which allow little blood flow from left to right generally cause no problems. If they are located in the middle portion of the central heart wall, they may even close on their own. However, moderate and large holes do not close, and the extra work over the years places a strain on the right side of the heart causing an enlargement of both pumping chambers. Therefore, treatment (surgery) is usually recommended in the first few years of life for larger holes, before excessive strain has been placed on the heart. What is PDA? This defect is the continuance of a direct connection between the aorta and the lung (pulmonary) artery, which normally closes shortly after birth. A baby in the womb is supplied oxygen by the placenta via the umbilical cord. The baby's lungs are not expanded and require only a small amount of blood for them to grow. The ductus is a blood vessel that allows blood to bypass the baby's lungs. Generally the ductus close within a few days of birth, and the connections between the two sides of the heart no longer exist. The resistance to blood flow quickly falls with the onset of breathing. In some babies with Down syndrome the ductus fails to close. This causes higher pressure in the left side of the heart and increases the amount of blood flowing into the lungs. Symptoms If the ductus has partially closed and only a narrow connection remains, the baby won’t show symptoms. If the connection is larger, the baby may be breathless and tired and show poor weight gain. Treatment If the ductus remains open for more than three months, it is unlikely to close on its own and surgical closure is recommended. What is Tetralogy of Fallot? A small percentage of babies with Down syndrome have this complex heart condition which combines the most common defect associated with Down syndrome, AVSD, with Tetralogy of Fallot. This anomaly includes four different heart problems: a hole between the top chambers and a hole between the bottom chambers combined mitral and tricuspid valves (common atrioventricular valve) narrowed pulmonary artery (from heart to lungs) or the area under or above the valve, or all three thickening of the right bottom chamber (ventricle) Symptoms The combination of these defects early in life almost seems to balance out such that the child may be rather blue, but not too breathless. There can, of course, be too much blueness or too much breathlessness, depending on the severity of the different conditions. Treatment The type of surgery depends on the severity of the AVSD or the Fallots. Usually, the children are quite blue and require a BT shunt to increase the amount of blue going to the lungs. Then another operation is performed later – usually at 1-2 years of age – so that the holes can be closed, the valves repaired, and the way out to the lung artery widened.

Congenital Heart Disease in Children with Down Syndrome

Children with Down syndrome are at a much higher risk for congenital heart disease. As a comparison: the incidence of congenital heart disease in the general population is 0.8 percent. The incidence of congenital heart disease in children with Down syndrome is between 40-60 percent. Some heart defects can be left alone with careful monitoring while others require surgery to correct the problem. The following types of heart defects in children with Down syndrome are discussed below. Atrioventricular Septal Defects (AVSDs) – These are the most common in children with Down syndrome. Ventricular Septal Defects (VSDs) Atrial Septal Defects Patent Ductus Arteriosus Tetralogy of Fallot What is AVSDs? Atrioventricular Septal Defects (AVSDs) These heart defects are defined b a hole in the wall between the top chambers (atria) and bottom chambers (ventricles) and one common valve between the two areas. In some cases, there might not be a hole between the bottom chambers. Or the valves may not be joined together, but either or both might leak. This is known as valve incompetence. Because of the high pressure in the left ventricle which is needed to pump the blood around the body, blood is forced through the holes in the central heart wall (septum) when the ventricle contracts. This increases the pressure in the right ventricle. This increased pressure (pulmonary hypertension) results in excess blood flow to the lungs. Symptoms Some of the early symptoms seen are difficulty in eating, weight gain, fast irregular breathing and a degree of cyanosis (blueness) particularly noticeable around the mouth, fingers and toes. Clinical examination may show an enlarged heart and liver, and a diagnosis of ‘heart failure' may be given. This term is used because of the flow of blood from one side to the other; the heart has to work harder than normal causing the heart to fail to work normally. Not all children will exhibit symptoms early in life, and those that do will not always show all of these. Treatment Early treatment may involve the use of diuretics to control the fluid retention around the body and to reduce the volume of blood in the circulation, thus making the heart's workload easier. These may be used in conjunction with other drugs that increase the contraction of the heart muscle. Slow weight gain may indicate the need to use high-calorie formula increase calorie intake. Severe eating problems may warrant using a naso-gastric tube (through the nose and directly into the stomach) to help with proper nutrition. The majority of cases of AVSD usually require surgical intervention; this generally takes place within the first six months of life. What is VSDs? Ventricular Septal Defects (VSDs) In this defect there is a hole between the bottom chambers (pumping chambers or ventricles). Because of the higher pressure in the left side of the heart, this allows oxygenated blood to flow through the hole from the left to the right side of the heart, and back to the lungs, in addition to the normal flow. The amount of blood flow from the left to right ventricle depends on the size of the hole and on the pressure between the ventricles. In other words, the higher the rate of flow means more strain on the heart. The abnormal blood flow is responsible for the murmur that may be heard. Symptoms Generally patients with a small VSD will not exhibit symptoms (they are asymptomatic) and the problem may only be found when a murmur is detected upon routine examination. Patients with a moderate VSD may breathe quickly, exhibit poor weight gain, and be slower at eating. These children are also much more prone to chest infections. This tends to be more pronounced when the hole is large. Treatment As with ASVDs, patients with moderate or large holes usually require treatment with diuretics to control fluid retention and to reduce the volume of blood in the circulation may be used. Also, high-calorie formula or tube feedings might be necessary. Many VSDs will close spontaneously or get much smaller, so it is normal practice to leave a child with a small or moderate VSD and monitor their progress before deciding to operate. Surgery may be needed if there is failure to thrive despite medication, or concern about pulmonary hypertension. If a large VSD is present, surgery is almost always recommended.