Pediatrics differs from adult medicine in many respects. The obvious body size differences are paralleled by maturational changes. The smaller body of an infant is substantially different physiologically from that of an adult. Congenital defects, genetic variance, oncology, and a host of other issues are unique to the realm of pediatrics. Increasingly effective health care also means that diseases such as sickle
cell anemia and cystic fibrosis are more often treated by pediatricians, though many or most patients grow into adulthood. Issues revolving around infectious diseases and immunizations are also dealt with primarily by pediatricians. To put simply, treating a child is not like treating a miniature adult.
Childhood is the period of greatest growth, development and maturation of the various organ systems in the body. Years of training and experience (above and beyond basic medical training) goes into recognizing the difference between normal variants and what is actually pathological.
This section deals with the numerous issue children are faced with in their lifetimes.
Chickenpox is caused by the varicella-zoster virus (VZV), also known as human herpes virus 3 (HHV-3), one of the eight herpes viruses known to affect humans. It starts with conjunctival and catarrhal symptoms and then characteristic spots appearing in two or three waves, mainly on the body and head rather than the hands and becoming itchy raw pox (pocks), small open sores which heal mostly without scarring.
Chickenpox has a 10-14 day incubation period and is highly contagious through physical contact two days before symptoms appear. Following primary infection there is usually lifelong protective immunity from further episodes of chickenpox. Recurrent chickenpox is fairly rare but more likely in people with compromised immune systems.
Symptomatic treatment, with calamine lotion to ease itching and paracetamol (American English: acetaminophen) to reduce fever, is widely used.
Chickenpox is rarely fatal (usually from varicella pneumonia), with pregnant women and those with a suppressed immune systems being more at risk. Pregnant women not known to be immune and who come into contact with chickenpox may need urgent treatment as the virus can cause serious problems for the fetus. This is less of an issue after 20 weeks.
Later in life, viruses remaining dormant in the nerves can reactivate causing localised eruptions of shingles. This occurs particularly in people with compromised immune systems, such as the elderly, and perhaps even those suffering sunburn. Unlike chickenpox which normally fully settles, shingles may result in persisting post-herpetic neuralgia pain.
Signs and Symptoms Chickenpox is a highly contagious disease that spreads from person to person by direct contact or through the air from an infected person’s coughing or sneezing. Touching the fluid from a chickenpox blister can also spread the disease. A person with chickenpox is contagious from 1-2 days before the rash appears until all blisters have formed scabs. This may take 5-10 days. It takes from 10-21 days after contact with an infected person for someone to develop chickenpox.
The chickenpox lesions (blisters) start as a 2-4 mm red papule which develops an irregular outline (rose petal). A thin-walled, clear vesicle (dew drop) develops on top of the area of redness. This “dew drop on a rose petal” lesion is very characteristic for chickenpox. After about 8-12 hours the fluid in the vesicle gets cloudy and the vesicle breaks leaving a crust. The fluid is highly contagious, but once the lesion crusts over, it is not considered contagious. The crust usually falls off after 7 days sometimes leaving a crater-like scar. Although one lesion goes through this complete cycle in about 7 days, another hallmark of chickenpox is the fact that new lesions crop up every day for several days. Therefore, it may take about a week until new lesions stop appearing and existing lesions crust over. Children are not sent back to school until all lesions have crusted over.
Second infections with chickenpox occur in immunocompetent individuals, but are uncommon. Such second infections are rarely severe. A soundly-based conjecture being carefully assessed in countries with low prevalence of chickenpox due to immunisation, low birth rates, and increased separation is that immunity has been reinforced by subclinical challenges and this is now less common. This is more dangerous with shingles. There have been reported cases of repeat infections. Chickenpox is highly contagious and is spread through the air when infected people cough or sneeze, or through physical contact with fluid from lesions on the skin. Zoster, also known as shingles, is a reactivation of chickenpox and may also be a source of the virus for susceptible children and adults. It is not necessary to have physical contact with the infected person for the disease to spread. Those infected can spread chickenpox before they know they have the disease – even before any rash develops. In fact, people with chickenpox can infect others from about 2 days before the rash develops until all the sores have crusted over, usually 4-5 days after the rash starts.
Congenital Defects in Babies These may occur if the child’s mother was exposed to VZV during pregnancy. Effects to the fetus may be minimal in nature but physical deformities range in severity from under developed toes and fingers, to severe anal and bladder malformation. Possible problems include:
Damage to brain: encephalitis, microcephaly, hydrocephaly, aplasia of brain Damage to the eye (optic stalk, optic cup, and lens vesicles), microphthalmia, cataracts, chorioretinitis, optic atrophy. Other neurological disorder: damage to cervical and lumbosacral spinal cord, motor/sensory deficits, absent deep tendon reflexes, anisocoria/Horner’s syndrome Damage to body: hypoplasia of upper/lower extremities, anal and bladder sphincter dysfunction Skin disorders: (cicatricial) skin lesions, hypopigmentation
Prognosis and Treatment Chickenpox infection tends to be milder the younger a child is and symptomatic treatment for itch (e.g. calamine lotion and/or antihistamine) and fever (with paracetamol, while ibuprofen should only be given if prescribed by a doctor) is usually all that is required. Piriton syrup can also be given and is very effective. Infection in otherwise healthy adults tends to be more severe and active; treatment with antiviral drugs (e.g. acyclovir) is generally advised. Patients of any age with depressed immune systems or extensive eczema are at risk of more severe disease and should also be treated with antiviral medication. In the U.S., 55 percent of chickenpox deaths are in the over-20 age group.
Vaccination A varicella vaccine has been available since 1995 to inoculate against the disease. Some countries require the varicella vaccination or an exemption for matriculation in elementary school. Protection is not lifelong and further vaccination is necessary five years after the initial immunisation.
Obstruction of the appendiceal lumen has been attributed to a number of common sources including from fecaliths (a hard mass of fecal matter), normal stool, viral induced ulcers, or lymphoid hyperplasia. Once this obstruction occurs the appendix subsequently becomes filled with mucus and distends, increasing intraluminal and intramural pressures, resulting in thrombosis and occlusion of the small vessels, and stasis of lymphatic flow. As these progress, the appendix becomes ischemic and then necrotic. Rarely, spontaneous recovery can occur at this point. As bacteria begin to leak out through the dying walls, pus forms within and around the appendix (suppuration). The end result of this cascade is appendiceal rupture causing peritonitis, which may lead to septicemia and eventually death.
A number of environmental factors involving diet and hygiene have been proposed to be alternate causes of appendicitis, none of which have been studied in detail. According to the Medical Journal of Australia, “Dietary theories, notably an inadequate fibre intake, have been advanced to account for the geography of the disease, but it is clear that diet can not fully explain the epidemiology.”
Symptoms Symptoms of acute appendicitis can be classified into two types, typical and atypical (Hobler, K., 1998). The typical history includes pain starting centrally (periumbilical) before localising to the right iliac fossa (the lower right side of the abdomen); this is due to the poor localizing (spatial) property of visceral nerves from the mid-gut, followed by the involvement of somatic nerves (parietal peritoneum) as the inflammation progresses. The pain is usually associated with loss of appetite and fever. Nausea or vomiting may or may not occur. With the typical type, diagnosis is easier to make, surgery occurs earlier and findings are often less severe.
Atypical symptoms may include pain beginning in the right lower quadrant, diarrhea and a more prolonged, smoldering course. Being more difficult to diagnose, CT scans and ultrasound tests are more useful. Surgical finding are more apt to be severe (suppuration, abscess, perforation, etc.)
In either type of history, physical findings of appendicitis usually include localized findings in the right lower quadrant suggesting peritonitis. The abdominal wall becomes very sensitive to gentle pressure (palpation) tapping (percussion). Coughing causes point tenderness in this area (McBurney’s Point) and this is the least painful way to localize the inflamed appendix. If the abdomen on palpation is also involuntarily guarded (rigid), there should be a strong suspicion of peritonitis requiring urgent surgical intervention.
Treatment The treatment begins by keeping the patient ‘nil by mouth’ in preparation for surgery. An intravenous drip is used to hydrate the patient. Antibiotics given intravenously such as cefuroxime and metronidazole may be administered early to help kill bacteria and thus reduce the spread of infection in the abdomen and postoperative complications in the abdomen or wound. Equivocal cases may become more difficult to assess with antibiotic treatment and benefit from serieal examinations. If the stomach is empty (no food in the past six hours) general anaesthesia is usually used. Otherwise, spinal anaesthesia may be used.
The surgical procedure for the removal of the appendix is called an appendicectomy (also known as an appendectomy). Often now the operation can be performed via a laparoscopic approach, or via three small incisions with a camera to visualize the area of interest in the abdomen. If the findings reveal suppurative appendicitis with complications such as rupture, abscess, adhesions, etc., conversion to open laparotomy may be necessary. An open laparotomy incision if required most often centers on the area of maximum tenderess. A transverse or a gridiron diagonal incision is used most commonly.
Types It is categorized as acute if it lasts less than a few days. Otherwise it is categorized as chronic which could last over 3 weeks.
Symptoms Hoarseness (raspiness, breathiness, and strain) or loss of voice Changes in volume (loudness) or in pitch (how high or low the voice is) Sore throat Sensation of a “lump” in the throat
Causes viral infection bacterial or fungal infection inflammation due to overuse of the vocal cords excessive coughing Chronic laryngitis can be caused by: heavy smoking shouting, singing, or excessive use of the voice, such as in teaching or public speaking exposure to dust or chemicals.
Treatments Correct treatment depends on a correct diagnosis of the underlying cause of laryngitis. The most prevalent cause of a missed diagnosis of laryngeal cancer is a belief that persistent hoarseness is due to laryngitis. Should hoarseness last for more than 3 weeks, one should consult an otolaryngologist (Ear, Nose, & Throat physician or ENT) for an examination including direct visualization of the vocal cords. This examination may also detect the presence of vocal cord nodules, a structural change resulting in persistent hoarseness or loss of voice. If laryngitis is due to a viral cause:
Ibuprofen and aspirin may help alleviate fever and some of the discomfort associated with laryngitis. Avoid speaking when possible. Speak softly, but do not whisper. Drink warm (but not hot) liquids such as tea or a honey-lemon drink. Take cough drops/throat lozenges. If unavailable, suck on hard candy. Stay hydrated, drink plenty of liquids: water, etc. Humidifiers and warm showers can also help alleviate some symptoms. Avoid airborne irritants such as smoke and allergens. Gargle with a salt water rinse; avoid mouth rinses containing alcohol which can dry the throat (however, these can be helpful when the cause of the infection is bacterial). A tea of gingerroot may help reduce swelling of the vocal cords and relieve symptoms. Your physician may prescribe a steroid medication to help accele rate the healing of the inflammation present. If laryngitis is due to gastroesophageal reflux:
Your physician may instruct you to take a nonprescription medication such as Zantac or Prilosec for a period of 4-6 weeks. If laryngitis is due to a bacterial or fungal infection:
Your physician may prescribe a course of antibiotics or anti-fungal medication. If persistent hoarsness or loss of voice (sometimes called “laryngitis”) is a result of vocal cord nodules:
Your physician may recommend a course of treatment that may include a surgical procedure and/or speech therapy. Reduce high-impact stress to the vocal cords caused by loud, frequent, and rapid speech.
Prevention You may not be able to prevent some of the illnesses and disorders that can cause laryngitis. However, to prevent and treat mild hoarseness related to laryngitis, the American Academy of Otolaryngology, Head and Neck Surgery recommends the following:
If you smoke, quit. Avoid secondhand smoke. Avoid agents that can dehydrate the body such as alcohol and caffeine. Drink plenty of fluids. Humidify your home. Avoid acidic or spicy foods. Try not to use your voice for too long or too loudly. Seek professional voice training. Avoid speaking or singing when your voice is injured or hoarse.
The Stomach Flu
The Stomach Flu
Usually this is caused by an infection, but this is not always the case. It usually is of acute onset, normally lasting less than 10 days and self-limiting.
Epidemiology Globally, diarrhea caused 4.6 million deaths in children in 1980 alone, most of these in the developing world. The Harrison’s Principles of Internal Medicine estimates the current total figure to be 2.4 to 2.9 million per year. This number has now come down significantly to approximately 1.5 million deaths annually, largely due to global introduction of proper oral rehydration therapy.
The incidence in the developed countries is as high as 1-2.5 cases per child per year and a major cause of hospitalisation in this age group.
Age, living conditions, hygiene and cultural habits are important factors. Another factor is the location. Aetiological agents vary depending on the climate. Furthermore, most cases of gastroenteritis are seen during the winter in temperate climates and during summer in the tropics.
Clinical Features The main symptoms include poor feeding in infants. Diarrhea is common, and may be (but not always) followed by vomiting. Viral diarrhea usually causes frequent watery stools, whereas blood stained diarrhea may be indicative of bacterial colitis. In some cases, even when the stomach is empty, bile can be vomited up.
The child with gastroenteritis may be lethargic, or running a low fever and have signs of dehydration, dry mucous membranes, tachycardia, reduced skin turgor, sunken fontanelles and sunken eye balls, poor perfusion and ultimately shock.
Diagnosis It is important to consider infectious gastroenteritis as a diagnosis per exclusionem. A few loose stools and vomiting may be the result of systemic infection such as pneumonia, septicaemia, urinary tract infection and even meningitis. Surgical conditions like appendicitis, intussusception and, rarely, even Hirschsprung’s disease may mislead the clinician.
Non-infectious causes to consider are poisoning with heavy metals (i.e. arsenic, cadmium), seafood (i.e. ciguatera, scombroid, toxic encephalopathic shellfish poisoning) or mushrooms (i.e. Amanita phalloides). Secretory tumours (i.e. carcinoid, medullary tumour of the thyroid, vasoactive intestinal peptide-secreting adenomas) and endocrine disorders (i.e. thyrotoxicosis and Addison’s disease) are disorders that can cause diarrhea. Also pancreatic insufficiency, short-gut syndrome, Whipple’s disease, coeliac disease and laxative abuse should be excluded as possibility.
Treatment A common treatment is to eat dry food (e.g. cooked toast with nothing on it) daily until the infection disappears.
Rehydration The principal treatment of diarrheal illness in both children and adults is rehydration, i.e. replenishment of water lost in the stools. Depending on the degree of dehydration, this can be done orally with (oral rehydration solutions (ORS)), commercial or home-made rehydration fluids, or through intravenous delivery. Symptoms may exhibit themselves for up to 6 days. Bowel movements will return to normal within a week after that.
Because of the stomach’s fragility due to the disease, rehydration through the drinking of fluids must be slow and spaced out as to not overwhelm the stomach and cause further nausea and vomiting. Doctors recommend that one take slow sips every few minutes, and if vomiting still occurs, it is best to refrain from any drinking or eating for the next half hour.
Antibiotics When the symptoms are severe one usually starts empirical antimicrobial therapy, i.e. fluoroquinolone. Pseudomembranous colitis is treated by discontinuing the causative agent and starting with metronidazole.
Antidiarrheal agents Loperamide is an opioid analogue commonly used for symptomatic treatment of diarrhea. It slows down gut motility, but does not cross the mature blood-brain barrier to cause the central nervous effect of other opioids. In too high doses, loperamide may cause constipation and significant slowing down of passage of feces, but an appropriate single dose will not slow down the duration of the disease. Although antimotility agents have the risk of exacerbating the condition, this fear is not supported by clinical experience according to Sleisenger & Fordtran’s Gastrointestinal and Liver Disease and the Oxford Textbook of Medicine. Nevertheless, Harrison’s Principles of Internal Medicine discourages the use of antiperistaltic agents and opiates in febrile dysentery, since they may mask, or exacerbate the symptoms. All these textbooks agree that in severe colitis antimotility drugs should not be used.
Loperamide prevents the body from flushing toxins from the gut, and should not be used when an active fever is present or there is a suspicion that the diarrhea is associated with organisms that can penetrate the intestinal walls, such as or salmonella.
Loperamide is also not recommended in children, especially in children younger than 2 years of age, as it may cause systemic toxicity due to an immature blood brain barrier, and oral rehydration therapy remains the main stay treatment for children.
Bismuth subsalicylate (BSS), an insoluble complex of trivalent bismuth and salicylate, is another drug that can be used in mild-moderate cases.
Combining an antimicrobial drug and an antimotility drug, seems to be effective more rapidly.
Antibiotics are of little or no use, unless persistent symptomatic colonisation (as seen in Giardia lamblia infestations) or septicaemia is present.
Complications Dehydration is the most serious complication of the diarrhea caused by gastroenteritis and needs prompt rectification by a clinician if severe.
Febrile convulsions are not uncommon in children, especially with rotavirus infections.
Sugar malabsorption is the most common complication, especially in infants. This may result in the reappearance of diarrhea after milk, and hence the sugar lactose, is reintroduced into the diet.
Types There are 3 main types of tonsillitis: acute, subacute and chronic. Acute tonsillitis can either be bacterial or viral in origin. Subacute tonsillitis (which can last between 3 weeks and 3 months) is caused by the bacterium Actinomyces. Chronic tonsillitis, which can last for long periods if not treated, is almost always bacterial.
Causes Bacterial tonsillitis may be caused by Group A streptococcal bacteria, resulting in strep throat. Viral tonsillitis may be caused by numerous viruses such as the Epstein-Barr virus (the cause of glandular fever) or the Coxsackie virus.
Sometimes, tonsillitis is caused by a superinfection of spirochaeta and treponema, in this case called Vincent’s angina or Plaut-Vincent angina.
Treatment Treatment consists of painkillers and fluids. If caused by bacteria then antibiotics are also prescribed-usually penicillin (erythromycin if the patient is allergic to penicillin). Amoxicillin should not be used unless bacterial infection has been microbiologically confirmed because if mononucleosis is mistaken as tonsillitis and amoxicillin is given, a rash might develop, and it may be wrongly assumed that the patient has developed an allergy to penicillins. Rest in a warm environment is advisable.
In many cases of tonsillitis, the pain caused by the inflamed tonsils warrants the prescription of topical anesthetics for temporary relief. Viscous lidocaine solutions are often prescribed for this purpose.
One may consider a burst of steroids to help decrease the edema and inflammation thereby easing pain and allowing the patient to swallow liquids sooner.
When tonsillitis is caused by a virus, the length of illness depends on which virus is involved. Usually, a complete recovery is made within one week, however some rare infections may last for up to two weeks.
In chronic cases tonsillectomy (surgical removal of tonsils) may be indicated.
Tonsillectomy A tonsillectomy is a surgical procedure in which the tonsils are removed. Sometimes the adenoids are removed at the same time.
Tonsillectomy may be indicated when the patient:
Experiences frequent bouts of acute tonsillitis. The number indicating tonsillectomy varies with the severity of the episodes. One case, even severe, is generally not enough for most surgeons to decide tonsillectomy is indicated.
Has chronic tonsillitis, consisting of persistent, moderate-to-severe throat pain.
Has multiple bouts of peritonsillar abscess.
Has sleep apnea (stopping or obstructing breathing at night due to enlarged tonsils or adenoids).
Difficulty eating or swallowing due to enlarged tonsils
Expanded Program of Immunization (EPI)
Age Vaccine Dose Route of Administration At Birth Bacille Calmette Guerin (B.C.G) Oral Polio Vaccine(OPV) 0.5ml 3 Drops Intra-dermal Oral 6 Weeks DPT mixture of diphtheria, pertussis, and tetanus OPV 0.5ml 3 Drops I/M Oral 10 Weeks DPT OPV 0.5ml 3 Drops I/M Oral 14 Weeks DPT OPV 0.5ml 3 Drops I/M Oral 9 Months Measles 0.5ml I/M 15 Months MMR mixture of measles, mumps and rubella 1ml I/M 1st Booster (18 months) DPT OPV 0.5ml 3 Drops I/M Oral 2nd Booster (5 years) DPT OPV 0.5ml 3 Drops I/M Oral
Immunization in Pregnant Women Tetanus Toxoid 2 Doses are given 4 weeks apart. Dose is 0.5ml. and given I/M. It is now recommended that 1st. dose is given after 12 weeks of pregnancy and 2nd. Dose is given 4 weeks after 1st. Dose. When 2 nd. Pregnancy occurs within 5 years of first pregnancy only 1 dose 0.5ml. given after 12 weeks of pregnancy is required. It is now recommended that Children should be immunized against Hepatitis B. After 1 week of birth, Hepatitis B vaccine Mini dose is given. Second dose is repeated again after 1 month, third dose is again after 1 month. Booster dose is given 1 year after the first dose.
Down syndrome or trisomy 21 is a genetic disorder caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British doctor who described it in 1866. The condition is characterized by a combination of major and minor differences in body structure. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. Down syndrome is usually identified at birth.
Individuals with Down syndrome can have a lower than average cognitive ability, often ranging from mild to moderate mental retardation. Developmental disabilities often manifest as a tendency toward concrete thinking or naivete. A small number have severe to profound mental retardation. The incidence of Down syndrome is estimated at 1 per 800 to 1,000 births.
Many of the common physical features of Down syndrome also appear in people with a standard set of chromosomes. They include a single transverse palmar crease (a single instead of a double crease across one or both palms), an almond shape to the eyes caused by an epicanthic fold of the eyelid, shorter limbs, poor muscle tone, and protruding tongue. Health concerns for individuals with Down syndrome include a higher risk for congenital heart defects, gastroesophageal reflux disease, recurrent ear infections, obstructive sleep apnea, and thyroid dysfunctions.
Early childhood intervention, screening for common problems, medical treatment where indicated, a conducive family environment, and vocational training can improve the overall development of children with Down syndrome. Although some of the physical genetic limitations of Down syndrome cannot be overcome, education and proper care will improve quality of life.
Individuals with Down syndrome may have some or all of the following characteristics: oblique eye fissures with epicanthic skin folds on the inner corner of the eyes, muscle hypotonia (poor muscle tone), a flat nasal bridge, a single palmar fold (also known as a simian crease), a protruding tongue (due to small oral cavity, and an enlarged tongue near the tonsils), a short neck, white spots on the iris known as Brushfield spots, excessive flexibility in joints, congenital heart defects, excessive space between large toe and second toe, a single flexion furrow of the fifth finger, and a higher number of ulnar loop dermatoglyphs. Most individuals with Down syndrome have mental retardation in the mild (IQ 50-70) to moderate (IQ 35-50) range, with scores of children having Mosaic Down syndrome (explained below) typically 10-30 points higher. In addition, individuals with Down syndrome can have serious abnormalities affecting any body system.
Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 21st chromosome, either in whole (trisomy 21) or part (such as due to translocations). The effects of the extra copy vary greatly among individuals, depending on the extent of the extra copy, genetic background, environmental factors, and random chance. Down syndrome occurs in all human populations, and analogous effects have been found in other species such as chimpanzees and mice. Recently, researchers have created transgenic mice with most of human chromosome 21 (in addition to the normal mouse chromosomes). The extra chromosomal material can come about in several distinct ways. A normal human karyotype is designated as 46,XX or 46,XY, indicating 46 chromosomes with an XX arrangement for females and 46 chromosomes with an XY arrangement for males. Trisomy 21 Trisomy 21 (47,XX,+21) is caused by a meiotic nondisjunction event. With nondisjunction, a gamete (i.e., a sperm or egg cell) is produced with an extra copy of chromosome 21; the gamete thus has 24 chromosomes. When combined with a normal gamete from the other parent, the embryo now has 47 chromosomes, with three copies of chromosome 21. Trisomy 21 is the cause of approximately 95% of observed Down syndromes, with 88% coming from nondisjunction in the maternal gamete and 8% coming from nondisjunction in the paternal gamete.
The incidence of Down syndrome is estimated at 1 per 800 to 1 per 1000 births. In 2006, the Center for Disease Control estimated the rate as 1 per 733 live births in the United States (5429 new cases per year). Approximately 95% of these are trisomy 21. Down syndrome occurs in all ethnic groups and among all economic classes.
Maternal age influences the risk of conceiving a baby with Down syndrome. At maternal age 20 to 24, the risk is 1/1490; at age 40 the risk is 1/60, and at age 49 the risk is 1/11. Although the risk increases with maternal age, 80% of children with Down syndrome are born to women under the age of 35, reflecting the overall fertility of that age group. Other than maternal age, no other risk factors are known. There does not appear to be a paternal age effect.
Pregnant women can be screened for various complications in their pregnancy. Many standard prenatal screens can discover Down syndrome. Genetic counseling along with genetic testing, such as amniocentesis, chorionic villus sampling (CVS), or percutaneous umbilical blood sampling (PUBS) are usually offered to families who may have an increased chance of having a child with Down syndrome, or where normal prenatal exams indicate possible problems. Genetic screens are often performed on pregnant women older than 30 or 35.
Amniocentesis and CVS are considered invasive procedures, in that they involve inserting instruments into the uterus, and therefore carry a small risk of causing fetal injury or miscarriage. There are several common non-invasive screens that can indicate a fetus with Down syndrome. These are normally performed in the late first trimester or early second trimester. Due to the nature of screens, each has a significant chance of a false positive, suggesting a fetus with Down syndrome when, in fact, the fetus does not have this genetic abnormality. Screen positives must be verified before a Down syndrome diagnosis is made. Common screening procedures for Down syndrome are given in Table 1.
Screen When performed (weeks gestation) Detection rate False positive rate Description Triple screen 15-20 75% 8.5% This test measures the maternal serum alpha feto protein (a fetal liver protein), estriol (a pregnancy hormone), and human chorionic gonadotropin (hCG, a pregnancy hormone). Quad screen 15-20 79% 7.5% This test measures the maternal serum alpha feto protein (a fetal liver protein), estriol (a pregnancy hormone), human chorionic gonadotropin (hCG, a pregnancy hormone), and high inhibin-Alpha (INHA). AFP/free beta screen 13-22 80% 2.8% This test measures the alpha feto protein, produced by the fetus, and free beta hCG, produced by the placenta. Nuchal translucency/free beta/PAPPA screen 10-13.5 91% 5% Uses ultrasound to measure Nuchal Translucency in addition to the freeBeta hCG and PAPPA (pregnancy-associate plasma protein A, Mendelian Inheritance in Man (OMIM) 176385). NIH has confirmed that this first trimester test is more accurate than second trimester screening methods.
Even with the best non-invasive screens, the detection rate is 90%-95% and the rate of false positive is 2%-5%. False positives can be caused by undetected multiple fetuses (very rare with the ultrasound tests), incorrect date of pregnancy, or normal variation in the proteins.
Confirmation of screen positive is normally accomplished with amniocentesis. This is an invasive procedure and involves taking amniotic fluid from the mother and identifying fetal cells. The lab work can take several weeks but will detect over 99.8% of all numerical chromosomal problems with a very low false positive rate.
Due to the low incidence of Down syndrome, a vast majority of early screen positives are false. Since false positives typically prompt an amniocentesis to confirm the result, and the amniocentesis carries a small risk of inducing miscarriage, there is a slight risk of miscarrying a healthy fetus. (The added miscarriage risk from an amniocentesis is traditionally quoted as 0.5%, but recent studies suggest that it may be considerably smaller (0.06% with a 95% CI of 0 to 0.5%).
A 2002 literature review of elective abortion rates found that 91-93% of pregnancies with a diagnosis of Down syndrome were terminated. Physicians and ethicists are concerned about the ethical ramifications, with some commentators calling it “eugenics by abortion”. Many members of the disability rights movement “believe that public support for prenatal diagnosis and abortion based on disability contravenes the movement’s basic philosophy and goals.”
Cognitive development in children with Down syndrome is quite variable. It is not possible at birth to predict their capabilities, nor are the number or appearance of physical features predictive of future ability. The identification of the best methods of teaching each particular child ideally begins soon after birth through early intervention programs. Since children with Down syndrome have a wide range of abilities, success at school can vary greatly, which stresses the importance of evaluating children individually. The cognitive problems that are found among children with Down syndrome can also be found among typical children. Therefore, parents can use general programs that are offered through the schools or other means.
Language skills show a difference between understanding speech and expressing speech. It is common for children with Down syndrome to need speech therapy to help with expressive language. Fine motor skills are delayed and often lag behind gross motor skills and can interfere with cognitive development. Occupational therapy can address these issues.
The medical consequences of the extra genetic material in Down syndrome are highly variable and may affect the function of any organ system or bodily process. The health aspects of Down syndrome encompass anticipating and preventing effects of the condition, recognizing complications of the disorder, managing individual symptoms, and assisting the individual and his/her family in coping and thriving with any related disability or illnesses.
The most common manifestations of Down syndrome are the characteristic facial features, cognitive impairment, congenital heart disease, hearing deficits, short stature, thyroid disorders, and Alzheimer’s disease. Other less common serious illnesses include leukemia, immune deficiencies, and epilepsy. However, health benefits of Down syndrome include greatly reduced incidence of many common malignancies except leukemia and testicular cancer – although it is, as yet, unclear whether the reduced incidence of various fatal cancers among people with Down syndrome is as a direct result of tumor-suppressor genes on chromosome 21, because of reduced exposure to environmental factors that contribute to cancer risk, or some other as-yet unspecified factor. Down syndrome can result from several different genetic mechanisms. This results in a wide variability in individual symptoms due to complex gene and environment interactions. Prior to birth, it is not possible to predict the symptoms that an individual with Down syndrome will develop. Some problems are present at birth, such as certain heart malformations. Others become apparent over time, such as epilepsy.
These factors can contribute to a significantly shorter lifespan for people with Down syndrome. One study, carried out in the United States in 2002, showed an average lifespan of 49 years, with considerable variations between different ethnic and socio-economic groups.
Fertility amongst both males and females is reduced, with only three recorded instances of males with Down syndrome fathering children.
Genetic research Down syndrome disorders are based on having too many copies of the genes located on chromosome 21. In general, this leads to an over expression of the genes. Understanding the genes involved may help to target medical treatment to individuals with Down syndrome. It is estimated that chromosome 21 contains 200 to 250 genes. Recent research has identified a region of the chromosome that contains the main genes responsible for the pathogenesis of Down syndrome, located proximal to 21q22.3. The search for major genes involved in Down syndrome characteristics is normally in the region 21q21-21q22.3.
Magnitude of the Problem: It is estimated that about 3% of the general population have mental retardation and in Pakistan about 16/1000 children between 3-9 year of age suffer from severe mental retardation.
Causes: Factors Before Birth: Poor nutrition in mother e.g. Iodine deficiency. Taking medicines without consulting doctor. Infectious diseases in mother such as measles, syphilis, rubella. Mother’s age more than 35 years. X-ray in first trimester. Genetic and chromosomal abnormalities. Factors at the Time of Birth: Complications at the time of delivery e.g. delayed or prolonged labor, wrong use of forceps, excessive bleeding, child unable to breathe immediately after birth (birth anoxia).
Factors after Birth: Lack of proper immunization against measles, T.B. etc. Poor nutrition in first two years of life. Illnesses such as jaundice, encephalitis, meningitis, febrile fits, head injuries.
The need to recognize Mental Retardation Early: Early guidance to parents will result in early training for child. It can prevent further deterioration if mental retardation is associated with epilepsy or other treatable medical conditions. We can help parents accept their child’s condition and prevent wastage of their time and money on useless treatments. Recognition of Mental Retardation: If the child:
Is slow in all activities since birth or his mental development is delayed compared to his age. Has poor social skills. Is displaying disruptive behavior on a regular basis. Is unable to cope independently from early age. Has history of repeated failure at school. Has a physical appearance suggestive of mental retardation e.g. Mongoloid features. Suspect Mental Retardation
Confirmation of Mental Retardation: There are two ways of confirming mental retardation. A) By talking to mother in detail about milestones of development. Important milestones of development are:
ERE If Delayed Confirm Mental Retardation B) By observing the child’s physical appearance and behavior e.g. small or large head indicates microcephaly or hydrocephalus, moon shaped face, slanting eyes, simian crease, pleasant and friendly nature indicates Down’s syndrome.
Management: Educate parents that:
it is not their fault or a punishment for their sins. Mental retardation can not be cured with medication and operation. Mental retarded child can learn a lot of skills (see target activities). Training the child would be a slow and frustrating process. Do not be discouraged if the child does not seem to be learning new skills. Repetitions are extremely helpful in training a mentally retarded child. Do not neglect your other children. Do not compare mentally retarded child with other siblings.
How Parents Should Train? According to the mental age decide on target activities starting from easiest to more difficult ones. Divide the target activity into subgroups (steps) e.g. bathing is an activity, just teach the child to hold the mug, then to pour the water on himself, then to rub the soap, and finally wash it off. Teach each step at a time. Parents should repeat the same activity every day for 2-3 weeks. Perform each activity with the child rather then instructing him to do it on his own. Each activity can be taught as a game. Reward the child with a sweet or praise every times he performs the desired activity. Advise the health worker of the area of follow these children at least once a month.
Mental Retardation can be Prevented by: Avoiding marriages within the family. Having children before the mother is 35 years of age. Regular antenatal follow-up and prenatal care. Immunization of children.
FAQS Questions that are commonly asked about Mental Retardation:
Q. Why are some people mentally retarded, are the parents responsible or is it their fate? A. Abnormal development of the brain or injury to the brain tissue can cause mental retardation. It is medical problem and has nothing to do with fate.
Q. Can any medicine or operation cure mental retardation? A. Currently, there is no medicine or operation available to cure mental retardation. However, the condition of a mentally retarded person can be improved by teaching him skills like taking care of himself or doing household chores like cutting grass or grazing or milking the cattle.
This is a skin infection caused by a pox virus. It is a common infection in children. It is transmitted by skin contact with an infected person.
Signs of Molluscum Contagiosum
The infection presents as small discrete, round, pearly-white growths on the skin. There may be single or multiple growths on the skin. These growths are usually symptomless. Common sites of infection are the eyelids, neck, trunk and anogenital area.
Eradication Of Infection
They are best treated by:
Trichloroacetic acid applications Liquid nitrogen applications Light electrosurgery
FOLLICULITIS AND FURUNCLE
Folliculitis is a superficial inflammation of hair follicle (hair pore) caused by bacteria. When the infection affect several hair follicles and the adjacent tissue, it is called a furuncle (boil).
The Presenting Feature The folliculitis usually affect the scalp, face, trunk and legs. The hair follicles are surrounded by either small pockets of pus or small red lumps. Sometimes, many adjacent hair follicles are affected at the same time giving rise to what is commonly known as boil or furuncle. In such instances, surgical drainage of the pus may have to be carried out besides antibiotic tablets.
Treatment In mild cases, antiseptic wash and antibiotic creams can easily eradicate the problem. Antibiotics pills are needed for extensive or severe cases.
It is caused by the human wart virus. It is a common infection in school children. Common sites involved are areas which are exposed to injury e.g. the hands, fingers, knees and soles.
Signs of Viral Warts Viral warts present as skin-coloured growths with rough and irregular surface. There may be single or multiple warts appearing at the same time on different parts of the body.
Treatment For small & superficial warts, warts lotion containing salicylic acid and lactic acid may be used.
This is a fungal infection of the scalp. It is more commonly seen in children than in the adults. It is usually spread from pets or other children.
Features of Tinea Capitis There is patchy loss of hair and pain. The affected area may be red and covered with scales, pus or adherent crusts. The diagnosis can be confirmed by examining the affected hair under the microscope.
Treatment The infection can be treated by taking antifungal tablets. Early treatment is important to prevent permanent scarring and hair loss.
This is an acute superficial infection of the skin caused by bacteria. This infection is common in pre-school children and young adults.
signs of Impetigo The infection appears as skin blisters which later break down to become superficial sores with golden-yellow “stuck on” crusts on the surface. Common sites affected are the face, arms, buttocks and legs.
Treatment Antibiotic cream or pills are necessary.