PEDIATRIC

Principles of Growth A. Children are individuals, not little adults, who must be seen as part of the family B. Children are influenced by genetic factors, home, and environment , and parental attitude C. Chronologic and developmental ages of children are the most important contributing factors influencing their care D. Play is a natural medium for expression, communication, and growth in children E. Growth id complex, with all aspects closely related F. Growth is measured both quantitatively and qualitatively over a period of time G. Although the rate is uneven , growth is a continuous and orderly process 1. Infancy: most rapid period of growth 2. Preschool to puberty: slow and uniform rate of growth 3. Puberty (growth spurt) second most rapid growth period 4. After puberty : decline in growth rate till death H. There are regular patterns in the direction of growth and development ,such as cephalocaudal law and proximodistal I. Different parts of the body grow at different rates 1. Prenatally: head grows the fastest 2. During first year: elongation of trunk dominates J. Both rate and pattern of growth can be modified, most obviously by nutrition K. Each individual proceeds at own rate L. Development is closely related to the maturation of the nervous system; as primitive reflexes disappear, they are replaced by voluntary activity

Characteristic of Growth Circulatory system A. Heart rate decreases with increasing age B. Blood pressure increases with age Respiratory System A. Rate decreases with increase age B. Vital capacity 1. Gradual increase throughout childhood and adolescence, with a decrease in later life 2. Capacity in males exceeds that in females C. Basal metabolism 1. Highest rate is found in the newborn 2. Rate declines with increase in age, higher in males than females

Urinary System 1. Premature and full-term newborn have some inability to concentrate urine a. Specific gravity (newborn): 1.001 to 1.02 b. Specific gravity (others) 1.001 to 1.030 2. Glomerular filtration rate greatly increased by 6 months of age; reaches adult values between 1-2 years ; gradually decreases after 20 years Digestive System 1. Stomach is small gradually increases during infancy and childhood 2. Peristaltic activity decreases with advancing age 3. Blood glucose level rise from infancy to adolescence 4. Premature infants have lower blood glucose than full-term 5. Enzymes are present at birth to digest proteins and a moderate amount of fats, but only simple sugars (amylase is produced as starch is introduced) 6. Secretion of hydrochloric acid and salivary enzymes increases with age until adolescence; then decreases with advancing age Nervous System 1. Brain reaches 90% of total size by 2 years of age 2. All brain cells are presents by the end of the first year, although their size and complexity will increase 3. Maturation of the brainstem and spinal cord follows cepahlocaudal and proximodistal laws

THE INFANT 1 month A. Physical 1. Weight: gains about 150- 210 g weekly during first 6 months of life 2. Height: grows about 2.5cm (I inch) a month for the first 6 months of life 3. Head circumference: grows about 1.5 cm (1/2 inch) a month for the first 6 months B. Motor 1. Assumes flexed position with pelvis high, but knees not under abdomen, when prone 2. Holds the head parallel with the body when suspended in prone position 3. Can turn head from side to side when prone; lifts head momentarily from bed 4. Asymmetric position dominates, such as tonic neck reflex 5. Primitive reflexes still present C. Sensory 1. Eye movements coordinated most of the time; follows a light to midline 2. Visual acuity 20/100 to 20/50 D. Socialization and vocalization 1. Watches face intently while being spoken to 2. Utters small, throaty sounds

2 to 3 months A. Physical: posterior fontanel closed B. Motor 1. Holds the head erect for a short time and can raise chest supported on forearms 2. Bears some weight on legs when held in standing position 3. Actively holds rattle but will not reach for it 4. Grasp, tonic neck, and Moro reflexes are fading; step or dance reflex disappears 5. Plays with fingers and hands C. Sensory 1. Follows a light to the periphery 2. Has binocular coordination ( vertical and horizontal vision) 3. Listen to sounds D. Socialization and vocalization 1. Smiles in response to a person or object; cries less 2. Laughs aloud and shows pleasure in making sound 4 to 5 months A. Physical 1. Birth-weight doubles 2. Drools because salivary glands are functioning but child does not have sufficient coordination to swallow saliva B. Motor 1. Can sit when the back is supported; knees will be flexed and back rounded; balances the head well 2. Symmetric body position predominates 3. Can sustain a portion of own weight when held in a standing position 4. Reaches for and grasps an object with the whole hand but misjudges distances 5. Can carry hand or an object to the mouth at will 6. Can roll over from abdomen to back 7. Lifts head and shoulders at 90 angle when prone 8. Primitive reflexes (e.g. grasp, tonic neck, and moro) have disappeared 9. Neurologic reflexes a. Landau (from 6- 8 months to 12-24 months): when suspended in a horizontal prone position, the head is raised , legs and spine are extended b. Parachute (7-9 months ,persists indefinitely) when the infant is suspended in a horizontal prone position and suddenly thrust prone position and suddenly thrust forward, hands and fingers extend forward as if to protect from falling. C. Sensory 1. Recognizes familiar objects and people 2. Has coupled eye movements, accommodation is developing 3. Socialization and vocalization 4. Coos and gurgles when talked to ; enjoys social interaction 5. Vocalization displeasure when an object is taken

6 to 7 months A. Physical 1. Wt: gains about 90 to 150 g weekly during second 6 months of life 2. Height: grows about 1.25 cm (1/2 inch) a month 3. Head circumference : grows about 0.5 (1/5 inch) a month 4. Teething may begin with eruption of two lower central incisors, followed by upper incisors B. Motor 1. Can turn over equally well from stomach or back 2. Sit fairly well unsupported 3. Lifts head off table when supine 4. Can transfer a toy from one hand to the other and from hand to mouth 5. Plays with feet and puts them in mouth C. Sensory 1. Has taste preferences; will spit out disliked food 2. Recognize that things are still present even though they cannot be seen D. Socialization and vocalization 1. Shows stranger anxiety 2. Makes polysyllabic vowel sounds 3. Vocalizes m-m-m-m when crying; cries easily on slightest provocation but laughs just as quickly 8 to 9 months A. Motor 1. Sits steadily alone; pulls self to standing position; stands holding onto furniture 2. Good hand-to-mouth coordination 3. Developing pincer grasp 4. Crawls may go backward at first B. Sensory 1. Depth perception is increasing 2. Displays interest in small objects C. Socialization and vocalization 1. Social attachment is evident (e.g. stretches out arms to loved ones) 2. Responds to own name 3. Imitative and repetitive speech, using vowels and consonants such as dada, no true words as yet but comprehend words such as bye-bye

10 to 12 months A. Physical 1. Weight: birth-weight triples 2. Height: birth-length increases by 50% 3. Head and chest circumference are equal 4. Upper and lower lateral incisors usually have erupted , for total of 6to 8 teeth B. Motor 1. Creeps 2. Stands alone for a short times, walks with help 3. Can sit down from a standing position without help 4. Can eat from spoon and cup but needs help 5. Can play peek-a-boo; holds a crayon to make a mark on a paper 6. Helps in dressing, such a putting arm through sleeves C. Sensory 1. Visual acuity 20/50+; amblyopia (lazy eye) may develop with lack of binocularity 2. Discriminates simple geometric forms D. Socialization and vocalization 1. Shows emotions such as jealousy, affection, anger 2. Enjoys familiar surroundings and will explore away from mother 3. Fearful of strange situations or with strangers 4. May develop habit of security blanket 5. Can say two words besides Dada and Mama with meaning; understands simple verbal request, such as, give it to me. Play during Infancy (solitary Play) A. Safety is the chief determinant in choosing toys ( aspirating small objects is one of accidental death B. Mostly used for physical development C. Toys needs to be simple because of short attention span D. Visual and auditory stimulation is important E. Suggested toys: rattles soft, stuffed toys; mobiles; push-pull toys; simple musical toys Health Promotion during Infancy Feeding Milestones A. Newborn feels hunger and indicates desire for food by crying; expresses satiety by contentedly falling asleep B. At 1 month has strong extrusion reflex C. 5 to 6 month can use fingers to eat teething cracker or toast D. 6 to 7 months developmentally ready to chew solid foods E. 8 to 9 months can hold a spoon and play with it during feeding F. 9 months can hold own bottle G. 12months can drink from a cup

Injury prevention A. Accidents are one of the leading causes of death during infancy 1. Mechanical suffocation causes most accidental deaths in children under 1 year of age 2. Aspiration is common during second half of first year and into early childhood 3. Trauma from rolling off a bed or falling down stairs can occur at any time

B. Teaching is an essential aspect of prevention 1. Sudden infant death: place infant to sleep on side or back; do not use soft, moldable bedding such as pillows and quilts 2. Suffocation: a. Keep plastic bags away b. Use firm mattress; do not use pillows and loose mattress c. Do not tie pacifier on string around infants neck; remove bibs after use d. Drowning: never leave infant alone in the bath 3. Falls a. Always raise crib rails b. Never leave o a raised, unguarded surface c. Restrain child in the infant seat and never leave unattended while the seat is resting on raised surface d. Avoid using high chair 4. Burns a. Check bath water and warmed formula and food b. Do not pour hot liquids when infant is close by c. Keep cigarettes and their ashes away from infant d. Do not leave in the sun more than a few minutes 5. Aspiration a. Keep buttons, beads, and other small objects out of infants reach; keep floor out of small objects b. Use pacifier with one piece construction and loop handle c. Do not feed infant hard candy, nuts, food with pits or seeds d. Avoid balloons as playthings 6. Poisoning a. Make sure paints for furniture or toys does not contain lead b. Place toxic substances on a high shelf or locked cabinet; do not place toxic substances in food containers c. Know telephone number of local poison control center

The Toddler 15 months A. Motor 1. Walks well alone by 14 months with a wide based gait; creeps upstairs

2. Build tower of two blocks; enjoys throwing objects and picking them up 3. Drinks from a cup and can use spoon B. Vocalization and socialization 1. Can use four to six words, including name 2. Has learned no which may be said while doing a requested demand

18months A. Physical 1. Growth decreased and appetite lessened physiologic anorexia 2. Anterior fontanel is usually closed 3. Abdomen protrudes, larger than chest circumference B. Motor 1. Runs clumsily; climbs stairs or up on furniture 2. Imitates strokes in drawing 3. Drinks well in cup; manages spoon well 4. Builds tower of three or four cubes C. Vocalization and socialization 1. Says 10 words or more 2. New awareness of strangers 3. Temper tantrums 4. Very ritualistic, has favorite toy or blanket, thumb-sucking may be at peak 2 years A. Physical 1. Weight: 11 to 12 kg 2. Height: 80 to 82 cm 3. Teeth: 16 temporary; begins visits to dentist B. Motor 1. Gross motor skills quite refined 2. Can walk up and down stairs 3. Builds tower of six to seven cubes or will make cube into a train C. Sensory 1. Accommodation well developed 2. Visual acuity 20/40 D. Vocalization and socialization 1. Vocabulary about 300 words, uses short, two-to-three-word phrases, also pronouns 2. Obeys simple commands, shows signs of increasing autonomy and individuality; makes simple choices when possible 3. Can help undress self and pull on simple clothes 4. Does not share possessions, everything is mine

30 months A. Physical 1. Full set of 20 temporary teeth 2. Decreased need for naps B. Motor 1. Walks on tiptoe; stands on one foot momentarily 2. Builds tower of eight blocks 3. Copies horizontal or vertical lines 4. May attend to own toilet needs C. Vocalization and socialization 1. Begins to see self as separate individual 2. Still see other children as objects 3. Increasingly independent, ritualistic, and negativistic

Major learning Events A. Toilet training: most important task of the toddler 1. Physical maturation must be reached before training is possible a. Sphincter control b. Able to retain urine for at least 2 hours c. Usual age for bowel control training: 24- 30 months d. Daytime bowel and bladder control: during second year e. Night control : by 3 to 4 years of age 2. Psychological readiness a. Aware to the act of elimination b. Able to inform the parent of the need to urinate or defecate c. Desire to please the parent 3. Process of training a. Begins with bowel then bladder b. Accidents and regression frequently occur 4. Parental response a. Choose a specific word for the act b. Have a specific time and place c. Do not punish for accidents B. Need for independence without overprotection; the parents should be consistent, set realistic limits, reinforce desired behavior, and be constructive, geared to teach selfcontrol, and punish appropriately.

Play during Toddlerhood (parallel play) A. Plays along side with children but not with them B. Mostly free and spontaneous; no rules and regulations C. Attention span is still very short D. Safety is important

E. Imitating and make-believe play starts by end of the second year F. Suggested toys: play furniture, dishes, cooking utensils, puzzles, pedal-propelled toys, clay, etc.

Health Promotion for toddlers A. Nutritional objectives 1. Provide adequate nutrient intake to meet continuing growth and development 2. Provide a basis for support of psychosocial development in relation to food patterns, eating behavior, and attitude 3. Provide sufficient calories for increasing physical activities and energy levels B. Diet: calorie and nutrient requirements increase with age Injury Prevention A. More than half of accidental child deaths are related to automobiles and fire B. Accidents can be viewed in terms of childs growth and development, especially curiosity about the environment 1. Motor vehicle 2. Burns a. Investigating: pulls off pot off the stove; plays with matches; inserts an object to wall socket b. Climbing: reaches the stove, oven, ironing board and iron, cigarettes on the table 3. Poisons a. Learning new tastes and textures, puts everything into mouth b. Developing fine motor skills; able to open bottles, cabinets, jars c. Climbing to previously unreachable shelves 4. Drowning a. child and parents do not recognize the danger of water b. Child is unaware of inability to breathe under water 5. Aspiration a. Puts everything in mouth b. Very interested in body and newly found openings 6. Fractures a. Climbing, running, and jumping b. Still developing sense of balance

The Preschooler 3 years A. Physical 1. Usual weight gain 1.8 to 2.7 kg 2. Usual height gain 7.5 cm

B. Motor 1. Jumps off bottom stair; walks upstairs alternating feet 2. Rides a tricycle using pedals 3. Constructs three-block bridge; builds tower of 9 to 10 cubes 4. Can unbutton front or side button; uses a spoon 5. Usually toilet trained at night C. Sensory: visual acuity 20/30 D. Vocalization and socialization 1. Vocabulary of about 900 words; uses three-to-four-word sentences; uses plurals; may have normal hesitation in speech pattern 2. Begins to understand ideas of sharing and taking turns E. Mental Abilities 1. Beginning understanding of the past ,present, future, or any aspect of time 2. Stage of magical thinking

4 years A. Physical 1. Height and weight increases are similar to previous year 2. Length at birth is doubled B. Motor 1. Skips and hops on one foot; walks up and down stairs like an adult 2. Can button buttons and lace shoes 3. Throw ball overhand; uses scissors to cut out-line C. Vocalization and socialization 1. vocabulary of 1500 words or more 2. may have an imaginary companion 3. tends to be selfish and impatient but takes pride in accomplishments; exaggerates, boast, and tattles on others D. Mental Abilities 1. Unable to conserve matter 2. Can repeat four numbers and is learning number concept 3. Knows which is longer lines; has poor space perception 5 years A. Physical: height and weight increases are similar to previous year B. Motor 1. Gross motor abilities are well developed; can balance on one foot for about 10 seconds; can jump rope, skip, and roller skate 2. Can draw a picture of a person; prints first name and other words as learned 3. Dresses and washes self; may be able to tie shoelaces C. Sensory 1. Color recognition is well established 2. Minimal potential for amblyopia to develop

D. Vocalization and socialization 1. Vocabulary of about 2100 words; talks constantly; asks meaning of new words 2. Generally cooperative and sympathetic towards others 3. Basic personality structure is well established E. Mental abilities (Piagets phase of intuitive thought) 1. Beginning understanding of time terms of days as part of a week 2. Beginning understanding the conversion of numbers

Play during Preschool Years (cooperative Play) A. Loosely organized group play where membership changes readily, as do rules B. Through play, child deals with reality, learns control of feeling, and expresses emotions more through actions than through word C. Play is still physically oriented but also imitative and imaginary D. Increasing sharing and cooperation among preschool children, especially 5-year-old children E. Suggested toys: dress-up clothes, dolls, doll house, painting sets, coloring books, paste and cut out sets, illustrated books, puzzles with large pieces, etc. Health Promotion for Preschoolers: same with toddlers

School-Aged Children A. Physical growth 1. Permanent dentition, beginning with 6-year molars and central incisors at 7 or 8 years of age 2. Tends to look lanky because bone development precedes muscular development B. Motor 1. Refinement of coordination, balance, and control occurs 2. Motor development necessary for competitive activity becomes important C. Sensory: visual acuity 20/20 D. Mental Abilities 1. Readiness for learning, especially in perceptual organization: names months of year, knows right from left, can tell time, can follow directions at once 2. Acquires use of reason and understanding of rules; needs consistency 3. Trial-and-error problem solving becomes more conceptual rather than action oriented 4. Reasoning ability allows greater understanding and use of language 5. Concrete operations (piaget) : know that quantity remains the same even though appearance differs Play during school-aged years A. Number of play activities decreases, whereas the amount of time spent in one particular activity increases

B. Likes games with rules C. Likes athletic competition because of increase motor ability D. In beginning of school years, boys and girls play together but gradually separate into sexoriented type of activities E. Suggested play for 6-9 years old 1. More housekeeping toys that work, paper-doll set, sewing machine, building toys, simple work and number games, physical active games such as climbing trees, jump rope, bicycle riding F. Suggested play for 9-12 years old 1. Handicraft of all kinds; model kits, pottery clay, archery, dart games, chess, jigsaw, science toys Health Problems most common in school-aged children A. Reactions of the school-aged child 1. Usually handles separation well but prefers parents to be near 2. Fears the unknown, especially when dependency or loss of control is expected; fears bodily harm, especially disfigurement 3. Possesses realistic concept of death by 9 to 10 years old 4. Wants to know scientific rationale fro treatments and procedures B. If possible parents can be helped to prepare the child beforehand, since increased cognitive and verbal ability makes explanations possible

COMMON PEDIATRIC CONDITIONS:

Chromosomal Aberrations

Trisomy 21 (down Syndrome) Spontaneous chromosomal abnormality that causes characteristic facial features, other distinctive physical abnormalities and mental retardation Median life expectancy of 49 years (significantly increased [from 25 years in 1983] by improved treatment for heart defects, respiratory and other infections, and acute leukemia)

Pathogenesis: Nearly all cases of Down syndrome result from Trisomy 21 - Produces three copies of chromosome 21 instead of normal two because of faulty meiosis (nonjunction) of the ovum or, sometimes, the sperm - Results in karyotype of 47 chromosomes instead of the usual 46

May also result from an unbalanced translocation or chromosomal rearrangement in which the long arm of chromosome 21 breaks and attaches to another chromosome Some affected, may have chromosomal mosaicism, a mixture of normal cells and cells are trisomic (usually leads to less severe phenotype)

Pathophysiology and clinical signs: Small head with distinctive facial features (low nasal bridge, epicantric folds, protruding tongue, and low-set ears); small, open mouth and disproportionately large tongue due to chromosomal aberration Small, short, thick fingers and hands; single transverse crease on the palm (simian crease); small white spot on the iris (brushfields spots) due to chromosomal aberration Mental retardation (estimated IQ of 30 to 70) and congenital defects (heart defects, duodenal atresia, hirshsprungs disease, polydactyly, syndactyly) due to chromosomal aberration Developmental delay due to hypotonia and decreased cognitive processing Impaired reflexes due to decreased muscle tone in limbs

Klinefelters Syndrome Sex-chromosomal abnormality of XXY in males Pathogenesis: The X chromosome carries genes that play roles in many body systems, including testis function, brain development, and growth.2 The addition of more than one extra X or Y chromosome to a male karyotype results in variable physical and cognitive abnormalities. In general, the extent of phenotypic abnormalities, including mental retardation, is directly related to the number of supernumerary X chromosomes. As the number of X chromosomes increases, somatic and cognitive development are more likely to be affected.

Pathophysiology and clinical signs: Skeletal and cardiovascular abnormalities can become increasingly severe. Gonadal development is particularly susceptible to each additional X chromosome, resulting in seminiferous tubule dysgenesis and infertility, as well as hypoplastic and malformed genitalia in polysomy X males. Moreover, mental capacity diminishes with additional X chromosomes. The intelligence quotient (IQ) score is reduced by approximately 15 points for each supernumerary X chromosome, but conclusions about reduced mental capacity must be drawn cautiously. All major areas of development, including expressive and receptive language and coordination, are affected by extra X chromosome material

The major consequences of the extra sex chromosome, usually acquired through an error of nondisjunction during parental gametogenesis, include hypogonadism, gynecomastia, and psychosocial problems. Klinefelter's syndrome is a form of primary testicular failure, with elevated gonadotropin levels due to lack of feedback inhibition by the pituitary gland. Androgen deficiency causes eunuchoid body proportions; sparse or absent facial, axillary, pubic, or body hair; decreased muscle mass and strength; feminine distribution of adipose tissue; gynecomastia; small testes and penis; diminished libido; decreased physical endurance; and osteoporosis. The loss of functional seminiferous tubules and Sertoli cells results in a marked decrease in inhibin B levels, which is presumably the hormone regulator of the follicle-stimulating hormone (FSH) level. The hypothalamic-pituitary-gonadal axis is altered in pubertal patients with Klinefelters syndrome.

Gastrointestinal Malformations

Cleft Lip and Cleft Palate Abnormalities involving the lip and palate (may occur separately or in combination) develop in the second month of pregnancy , when the front and sides of the face and the palatine shelves fuse imperfectly Cleft lip (with or without cleft palate) occurs twice as often in males than as females; cleft palate alone (without cleft lip) is more common in females

Pathogenesis: During the second month of pregnancy ,the front and sides of the face and palatine shelves develop; because of a chromosomal abnormality , exposure to teratogens, genetic abnormality, or environmental factors, the lip or palate fuses imperfectly Deformity may range from a simple notch to a complete cleft, cleft palate may be partial or complete Complete cleft includes the soft palate, the bones of the maxilla, and the alveolus on one or both sides of the premaxilla

Pathophysiology and clinical signs: Difficulty feeding because infant cannot form a vacuum with the mouth to suck; may be able to breastfeed ( breast may fill the cleft, making sucking easier) Mouth breathing results in : increased swallowed air, causing distended abdomen , and mucous membranes of the oropharynx become dried and cracked with increased risk of infection Altered speech; palate is needed to trap air in the mouth

Dental development ;excessive dental caries; malocclusion from displacement of the maxillary arch Hearing problems caused by recurrent otitis media (Eustachian tube connects the nasopahrynx and middle ear and transports pathogens to ear)

Intestinal Obstruction A blockage prevents the normal flow of intestinal contents through the intestinal tract

Pathogenesis: Mechanical obstruction: an intraluminal obstruction or a mural obstruction from pressure on the intestinal wall occurs. Examples are stenosis, strictures, adhesions, hernias, and abscesses Functional obstruction: the intestinal musculature cannot propel the contents along the bowel. Examples are amyloidosis, muscular dystrophy, neurologic disorders like Parkinsons diseases. The blockage can also be temporary and the result of manipulation of the bowel during surgery

Pathophysiology and clinical signs: Intestinal contents, fluids, and gas accumulate above the intestinal the intestinal obstruction. The abdominal distention and retention of fluid reduce the absorption of fluids and stimulate more gastric secretions. With increasing distention, pressure within the intestinal lumen increases, causing a decrease in venous and arteriolar capillary pressure. This causes edema, congestion, necrosis, and eventual rupture or perforation of the intestinal wall, with resultant peritonitis. The initial symptom is usually crampy pain that is wavelike and colicky. The patient may pass blood and mucus but no fecal matter and flatus. Vomiting occurs. If obstruction is complete the peristaltic waves becomes extremely vigorous and eventually assume a reverse direction. If obstruction is in the ileum, fecal vomiting takes place. First the patient vomits the stomach contents, then the bile-stained contents of the duodenum and jejunum, and finally the darker, fecal matter contents of the ileum. If the obstruction is not corrected , hypovolemic shock occurs from dehydration and loss of plasma volume

Anorectal Anomalies (imperforate anus) Failure of the membrane separating the rectum from the anus to absorb during eight week of fetal life; fistulas within the vagina, urinary tract, or scrotum are common; most frequent intestinal anomaly

Pathogenesis: The embryogenesis of these malformations remains unclear. The rectum and anus are believed to develop from the dorsal potion of the hindgut or cloacal cavity when lateral ingrowth of the mesenchyme forms the urorectal septum in the midline. This septum separates the rectum and anal canal dorsally from the bladder and urethra. The cloacal duct is a small communication between the 2 portions of the hindgut. Downgrowth of the urorectal septum is believed to close this duct by 7 weeks' gestation. During this time, the ventral urogenital portion acquires an external opening; the dorsal anal membrane opens later. The anus develops by a fusion of the anal tubercles and an external invagination, known as the proctodeum, which deepens toward the rectum but is separated from it by the anal membrane. This separating membrane should disintegrate at 8 weeks' gestation. Interference with anorectal structure development at varying stages leads to various anomalies, ranging from anal stenosis, incomplete rupture of the anal membrane, or anal agenesis to complete failure of the upper portion of the cloaca to descend and failure of the proctodeum to invaginate. Continued communication between the urogenital tract and rectal portions of the cloacal plate causes rectourethral fistulas or rectovestibular fistulas. The external anal sphincter, derived from exterior mesoderm, is usually present but has varying degrees of formation, ranging from robust muscle (perineal or vestibular fistula) to virtually no muscle (complex longcommon-channel cloaca, prostatic or bladder-neck fistula).

Clinical signs: Anal opening very near the vaginal opening in girls Missing or misplaced opening to the anus No passage of first stool within 24 - 48 hours after birth Stool passes out of the vagina, base of penis, scrotum, or urethra Swollen belly area

Pyloric Stenosis Congenital hypertrophy of muscular tissue of the pyloric sphincter, usually asymptomatic until 2 to 4 weeks after birth Pathogenesis: The causes of infantile hypertrophic pyloric stenosis are multifactorial.1 Both environmental factors and hereditary factors are believed to be contributory. Possible etiologic factors include deficiency of nitric oxide synthase containing neurons, abnormal myenteric plexus innervation, infantile hypergastrinemia, and exposure to macrolide antibiotics.

Nitric oxide has been demonstrated as a major inhibitory nonadrenergic, noncholinergic neurotransmitter in the GI tract, causing relaxation of smooth muscle of the myenteric plexus upon its release. Impairment of this neuronal nitric oxide synthase (nNOS) synthesis has been implicated in infantile hypertrophic pyloric stenosis, in addition to achalasia, diabetic gastroparesis, and Hirschsprung disease

Pathophysiology and clinical signs: Marked hypertrophy and hyperplasia of the 2 (circular and longitudinal) muscular layers of the pylorus occurs, leading to narrowing of the gastric antrum. The pyloric canal becomes lengthened, and the whole pylorus becomes thickened. The mucosa is usually edematous and thickened. In advanced cases, the stomach becomes markedly dilated in response to near-complete obstruction. Vomiting The first symptom of pyloric stenosis is usually vomiting. At first it may seem that the baby is simply spitting up frequently, but then it tends to progress to projectile vomiting, in which the breast milk or formula is ejected forcefully from the mouth, in an arc, sometimes over a distance of several feet. Projectile vomiting usually takes place soon after the end of a feeding, although in some cases it may be delayed for hours. Rarely, the vomit may contain blood. Changes in stools Babies with pyloric stenosis usually have fewer, smaller stools because little or no food is reaching the intestines. Constipation or stools that have mucus in them may also be symptoms. Failure to gain weight and lethargy Most babies with pyloric stenosis will fail to gain weight or will lose weight. As the condition worsens, they are at risk for developing fluid and salt abnormalities and becoming dehydrated. Visible peristalsis: palpable olive-shaped mass in the right upper quadrant as the stomach tries to empty itself against the thickened pylorus.

Megacolon (Hirschprungs Disease) Absence of parasympathetic ganglion cells in a portion of the bowel, which causes the enlargement of the bowel proximal to the defect Pathogenesis: Congenital aganglionosis of the distal bowel defines Hirschsprung disease. Aganglionosis begins with the anus, which is always involved, and continues proximally for a variable distance. Both the myenteric (Auerbach) plexus and the submucosal (Meissner) plexus are absent, resulting in reduced bowel peristalsis and function. The precise mechanism underlying the development of Hirschsprung disease is unknown.

Enteric ganglion cells are derived from the neural crest. During normal development, neuroblasts will be found in the small intestine by the 7th week of gestation and will reach the colon by the 12th week of gestation. One possible etiology for Hirschsprung disease is a defect in the migration of these neuroblasts down their path to the distal intestine. Alternatively, normal migration may occur with a failure of neuroblasts to survive, proliferate, or differentiate in the distal aganglionic segment. Abnormal distribution in affected intestine of components required for neuronal growth and development, such as fibronectin, laminin, neural cell adhesion molecule (NCAM), and neurotrophic factors, may be responsible for this theory

Pathophysiology and clinical signs: Three neuronal plexus innervate the intestine: the submucosal (i.e., Meissen) plexus, the intermuscular (i.e., Auerbach) plexus, and the smaller mucosal plexus. All of these plexus are finely integrated and involved in all aspects of bowel function, including absorption, secretion, motility, and blood flow. Normal motility is primarily under the control of intrinsic neurons. Bowel function is adequate, despite a loss of extrinsic innervations. These ganglia control both contraction and relaxation of smooth muscle, with relaxation predominating. Extrinsic control is mainly through the cholinergic and adrenergic fibers. The cholinergic fibers cause contraction, and the adrenergic fibers mainly cause inhibition. No peristaltic occurs in the affected portion of intestine (spastic and contracted) the section is usually narrowed; therefore no fecal material passes through it. The intestine above the affected section has an accumulation of fecal material. Proximal to the narrow affected section, the colon is dilated filled with fecal material and gas; hypertrophy of muscular coating; ulceration of mucosa may be seen in newborn Hirschsprung disease should be considered in any newborn with delayed passage of meconium or in any child with a history of chronic constipation since birth. Other symptoms include bowel obstruction with bilious vomiting, abdominal distention, poor feeding, and failure to thrive. Ribbon-like or pellet stool may also be noted caused by contracted affected portion and failure of internal rectal sphincter to relax.

Cardiac Malformations Pathogenesis: 90% of all Congenital Heart Disease (defects) is unknown but is associated to fetal or maternal infection during the first trimester, chromosomal abnormalities, or exposure to teratogens during fetal development.

Left to Right Shunts

Ventricular Septal Defect Ventricular septal defect is an abnormal communication between the right and left ventricle. Accounts for 25% of all CHDs.

Pathophysiology and clinical signs: Blood flows from the high-pressure left ventricle across the VSD into the lowpressure right ventricle and into the pulmonary artery, resulting in pulmonary over-circulation Due to higher pressure in the left ventricle, a shunting of blood from left to right ventricle occurs during systole. If pulmonary vascular resistance produces pulmonary hypertension, the shunt of blood is then reversed from the right to left ventricle with cyanosis resulting. Commons signs and symptoms are tachypnea, tachycardia, excessive sweating associated with feeding, poor weight gain, there will also be low, harsh murmur heard throughout systole.

Atrial Septal Defect An abnormal communication between the left and right atrias. ASDs account for 9% of congenital heart defects. Types: 1. Ostium secundum ASD: the most common type of ASD; abnormal opening in the middle of the arterial septum. 2. Ostium primum ASD: abnormal opening at the bottom of the atrial septum 3. Sinus venosus ASD: abnormal opening at the top of the atrial septum.

Pathophysiology and clinical signs: Blood flow from the higher-pressure left atrium across the ASD into the lowerpressure left atrium (left to right shunt) Increased blood return to the right heart leads to right ventricular volume overload and right ventricular dilation Atrial septal defect is usually asymptomatic but may also manifest frequent URIs, poor weight gain and decreased exercise tolerance. Murmur may also be heard high on chest, with fixed splitting of the second heart sound.

Patent Ductus Arteriosus Failure of the fetal connection between the aorta and pulmonary artery to close Pathophysiology and clinical signs: During fetal life, the ductus arteriosus allows blood to bypass the pulmonary circulation (fetus receives oxygen from the placenta) and flow directly into the systemic circulation. After birth the ductus arteriosus is no longer needed. The PDA usually closes in the first few days of life. When the ductus aretriosus fails to close, blood from the aorta (high pressure) flows into the low-pressure pulmonary artery, resulting in pulmonary overcirculation. Small to moderate size PDA is usually asymptomatic while large PDA may manifest CHF, tachypnea, poor weight gain, failure to thrive. Decreased exercise tolerance. Machinery-type murmur heard throughout the heartbeat in the left second or third interspace.

Right to Left Shunt Tetralogy of Fallot Tetralogy of fallot is the most common complex congenital heart defect; it accounts for 6% to 10% of all CHD Types: 1. 2. 3. 4. Pulmonary valve stenosis Ventricular septal defect Overriding aorta Right ventricular hypertrophy

Pathophysiology and clinical signs: Degree of cyanosis depends on the size of the VSD and the degree of right ventricular outflow tract obstruction (RVOTO) Obstruction of blood flow from the right ventricle to the pulmonary artery results in deoxygenated blood being shunted across the VSD and into the aorta (right-toleft shunt cyanosis) Right ventricular outflow tract obstruction can occur at any or all of the following three levels: pulmonary valve stenosis, infundibular hypertrophy, or supravalvular stenosis The right ventricle becomes hypertrophied as a result of the increased gradient across the RVOT

Transposition of the Great Arteries/ Vessels TGA occurs when the pulmonary artery arises off the left ventricle and the aorta arises off the right ventricle. It accounts for 5% to 10% of congenital heart defects. Pathophysiology and clinical signs: This defect results in two parallel circulations: a. The right atrium receives deoxygenated blood from the IVC and SVC; blood flow continues through the tricuspid valve into the right ventricle and is pumped back to the aorta. b. The left atrium receives richly oxygenated blood from the pulmonary veins; blood flow continues through the mitral valve into the left ventricle and is pumped back into the pulmonary artery To sustain life, there must be an accompanying defect ( PDA, ASD, or VSD) that allows mixing of deoxygenated blood and oxygenated blood between the two circuit Symptoms evident soon after birth; clinical scenario is influenced by the extent of intercirculatory mixing. Cyanosis, tachypnea, and metabolic acidosis may be noted.

NEUROLOGIC MALFORMATIONS/CONDITION Spina Bifida Refers to malformation of the spine in which the posterior portion of the laminae of the vertebrae fails to close. Pathogenesis: Unknown etiology but generally thought to result from genetic predisposition triggered by something in the environment.

a. Certain drugs, including valporic acid, have been known to cause neural tube defects if administered during pregnancy b. Women who have spina bififda and parents who have one affected child have an increased risk of producing children with neural tube defects Several types of spina bifida are recognized of which three are most common: a. Spina bifida occulta The defect is only in the vertebrae.the spinal cord and meninges are normal b. Meningocele The meninges protrude through the opening in the spinal canal. This form a cyst filled with CSF and covered with skin c. Myelomeningocele Both the spinal cord and cord membranes protrude through thr defect in the laminae of the vertebral column.

Pathophysiology and clinical signs: Possibly ,a depression or dimple,tuft hair, soft fatty deposits,port wine nevi, or a combination of these abnormalities on the skin over the spinal defect due to incomplete closure of one or more vertebrae without protrusion of spinal cord or meninges ( spina bifida occulta) Saclike structure that protrudes over the spine,trophic skin disturbances, and ulcerations (myelomeningocele,meningocele) due to incomplete closure of one or more vertebrae with protrusion of spinal content Depending on the level of the defect, permanent neurologic dysfunction, such as flaccid or spastic paralysis and bowel and bladder incontinence.`

Hydrocephalus: Is a condition of latered production, flow, or absorption of cerebrospinal fluid (CSF). It is characterized by an abnormal increase in CSF volume within the intracranial cavity and by enlargement of the head in infancy. Pathogenesis: Noncommunicating hydrocephalus obstruction in the system between the source of CSF production (ventricles) and the area of its reabsorption (subarachnoid space) a. May be partial,intermittent,or complete. b. Occurs in the majority of cases c. Caused by congenital defects such as Arnold-Chiari malformation,Dandywalker cyst, aqueductal stenosis (neurofibromatosis) d. Also caused by acquired conditions such as infections,trauma,spontaneous intracranial bleeding,and neoplasms. Communicating hydrocephalus:

a. Failure in the absorption system; cause is unknown b. Excessive production of CSF- tumor or unknown causes (rare) Pathophysiology and Clinical Signs: The ventricular system becomes greatly distended. a. The increased ventricular pressure results in thinning of the cerebral cortex and cranial bones, especially in the frontal, parietal, and temporal areas. b. The floor of the third ventricle commonly bulges downward, compresses the optic nerves, dilates the sella turcica, and often compresses the hypophysis cerebri. c. The basal ganglia, brain stem, and cerebellum remain relatively normal but compressed. d. The choroid plexus is usually atrophied at some degree. In infants clinical signs may show signs of increased intracranial pressure such as high-pitched,shrill cry, restlessness and irritability, excessive head growth due to open sutures, bulging of fontanels, papilledema of retina, seizures, sunset eyes, head lags may also be noted especially important after 4 to 6 months.

Meningitis Inflammation of the brain and spinal meninges Pathogenesis: Usually results from bacterial, virus, fungus, parasite, or other toxin - Acute pyrogenic,which is commonly caused by streptococcus pneumonia, heamophilus influenza, neisseria minigitidis, or escheriachia coli - Acute lymphatic ,which is viral in origin Inflammation of the pia-arachnoid and subarachnoid space progresses to congestion of adjacent tissues and nerve cell destruction ICP increases because of exudates Theses changes lead to engorged blood vessels, disrupted cerebral blood supply, possible thrombosis, or rupture and cerebral infarction

Pathophysiology: Fever, chills,malaise, petechial rash, and tachycardia resulting from from infection and inflammation Headache, vomiting and rarely,papilledema ( inflammationand edema of the optic nerve) due to increased ICP Nuchal rigidity,positive Brudsinkis and kergnigs signs, exaggerated and symmetrical deep tendon reflexes, and opisthotonos due to meningeal irritation Photophobia, diplopia,and other viosion problems resulting from cranial nerve irritation

GENITOURINARY MALFORMATION

Displaced Urethral Openings: Urethral opening is abnormally located Hypospadias: a. In males the urethra open on the lower surface of the penis from just behind the glans to the perineum (placement varies) b. In females the urethra opens into vagina ( rare) Epispadias: a. Occurs only in males b. Urethra opens on dorsal surface of the penis; often associated with extrophy of the bladder Pathogenesis: Possibly caused by decreased testosterone production in early gestation Clinical Signs: Inability to void with penis in the normal elevated position In females, urine dibbling from vagina Usually not difficult to diagnose, because anomaly is very visual. Cryptorchidism Congenital disorder in which one or both testes fails to descend into scrotum, remaining in the abdomen or inguinal canal or at the external ring of the inguinal canal Pathogenesis: Prevalent but still unsubstantial theory links undescended testes to development of the gubernaculums, a fibromuscular band that connects the testes to the scrotal floor (this band probably helps pulls the testes into the scrotum by shortening as the fetus grows. May be a result from inadequate testosterone levels or a defect in the testes or the gubernaculums Because the testes are maintained at a higher temperature by being within the body, spermatogenesis is impaired, leading to reduced fertility. Pathophysiology and clinical signs:

Testes on the affected side not palpable in the scrotum; underdeveloped scrotum due to unilateral crytorchidism Scrotum enlarghed on the unaffected side due to compensatory hypertrophy (occasionally) Infertility after puberty due to absence of spermatogenesis (uncorrected bilateral cryptorchidism) despite normal testosterone levels

SKELETAL MALFORMATION Congenital Clubfoot ( Talipes Equinovarus) Clubfoot is a congenital anomaly characterized by a three part deformity of the foot, consisting of inversion of the heel (varus), abduction and supination of the forefoot, and ankle aquinus. Pathogenesis: Exact etiology is unknown. Suggested contributing factors include: a. Intrauterine positioning b. Primary arrest in fetal development c. Familial tendency (about 10% of cases) d. Neuromuscular defect Pathophysiology and clinical signs: Foot is plantar flexed at the ankle and subtalar joints Hind foot is inverted Midfoot and forefoot are abducted and inverted Contractures of the soft tissues maintain the malalignments Deformity is usually obvious at birth with varying degress of rigidity and ability to correct position Deforminity becomes fixed if untreated ,ahich can lead to: a. Child bearing weight on lateral border of foot b. Awkward gait c. Callosities and bursae may develop over the lateral side of the foot

INBORN ERRORS IN METABOLISM Celiac Disease Also called gluten-sensitive enteropathy or celiac sprue, is a disease of the small intestine characterized by a permanent inability to tolerate dietary gluten.

Pathogenesis: The cause in unknown; although it appears to require interaction between a number of intrinsic factors ( genetic susceptibility, activation of immune system) and extrinsic factors (gluten and possibly other environmental factors). Both cellular immunity and humoral immunity are implicated. There is a familial tendency with association of specific HLA antigens.

Pathophysiology and Clinical Signs: Characterized of celiac disease include the following: a. Impaired intestinal absorption probably results from decreased area of absorption in small bowel and impaired enzyme activity b. Histologic abnormalities of the small intestine c. Clinical and histologic improvement with wheat, rye-, barley, and possibly oat-free diet d. Recurrence of clinical manifestations and histologic changes after reintroduction of dietary gluten e. Clinical manifestations may include anorexia, muscle wasting, watery,pale,foul-smelling stool, celiac crises may also be noted: severe episode of dehydration and acidosis from diahhrea, the body is also unable to absorb fats: steatorrhea.

HEMATOLOGIC CONDITIONS Leukemia Group of malignant disorder characterized by abnormal proliferation and maturation of lymphocytes and nonlymphocytic cells, leading to suppression of normal cells Pathogenesis: Cause is unknown but is linked to exposure to radiation, certain chemical and drugs such as benzene, and some chemotherapeutic agents,viruses, and genetic abnormalities (down syndrome) Classifications: a. Acute lymphocytic leukemia: abnormal growth of lymphocytic precursors (lymphoblasts) most common type in young children and adults age ^% and older; better prognosis than myelogenous. About 85 % incidence. b. Acute myelogenous leukemia: rapid accumulation of myeloid precursors (myeloblasts)- can affect children and adults; about 15% incidence and with poorer prognosis Immature nonfunctioning WBCs appear to accumulate first in the tissue where they originate,such as lymphocytes in lymph tissue and granulocytes in bone marrow

Immature, nonfunctioning WBCs spill into the bloodstream and overwhelm red blood cells and platelets; from there, they infiltrate other tissues Because of possible relapse, it commonly takes years to determine whether a patient is cured or is just in long-term remission

Pathophysiology and clinical signs: Sudden onset of high fever resulting from bone marrow invasion and cellular proliferation within the bone marrow Thrombocytopenia and abnormal bleeding secondary to bone marrow suppression Weakness and lassitude related to anemia from bone marrow invasion Pallor and weakness related to anemia Chills and recurrent infections related to proliferation of immune, nonfunctioning WBCs Bone pain from leukemic infiltration of bone Liver, spleens, and lymph node enlargement related to leukemic cell infiltration

Hemophilia A condition in which there is defect in clotting mechanism of blood; genetic disorder, xlinked recessive transmission Usually occurs in males; females are carriers but do not have the disease Pathogenesis: Defect in specific gene on the X chromosome that codes for factor VIII synthesis (Hemophilia A) More than 300 different base-pair substitution involving factor IX gene on the X chromosome (hemophilia B) Classification a. Hemophilia A (classic Hemophilia): deficiency of clotting factor VIII; more common than type B, affecting more than 80% of all patients with hemophilia b. Hemophila B (chirstmas Disease): affects 15% of all patients with hemophilia and a result from a factor IX defiency. A low level of the blood protein necessary for clotting causes disruption of the normal intrinsic cpagulation cascade Factors VIII and IX are components of intrinsic clotting pathway, factor IX is an essential factor, and factor VIII is a critical cofactor ( accelerates the activation of factor X by several thousand-fold)

Excessive bleeding occurs when these clotting factors are reduced by more than 75%; bleeding may be mild, moderate, or sever, depending on the degree of activation of clotting factors. A person with hemophilia forms a platelet plug at the bleeding site, but clotting factor deficiency impairs the ability to form a stable fibrin clot Delayed bleeding s more common than immediate hemorrhage

Pathophysiology and clinical signs: Spontaneous bleeding is ever hemophilia due to lack of clotting factor Excessive and continued bleeding or bruising hematomas after minor trauma or surgery due to lack of clotting factors Large Subqutaneous and deep intramuscular hematomas from mild trauma Pain, swelling, and terderness due to bleeding into joints Internal bleeding (commonly manifested as abdominal, chest, or flank pain) due to lack of clotting factor Hematuria, hematemesis or melena may also be noted

References: 1. Schilling, Judith A., et.al. (2006). Straight As in Pathophysiology 2. Saxton, Dolores F., et.al.(2002). Comprehensive review of nursing.6th Ed. 3. Smeltzer, Suzane C., et.al.(2008). Brunner & Suddarths Textboook of Medical-Surgical Nusing.11th Ed. 4. Nettina, Sandra M. (2001). The Lippincot Manual of Nursing Practice.7th Ed 5. http://emedicine.medscape.com

Prepared By: MAYNARD K. BAIRD, R.N.