growth and development with pediatric condition

8/2/2019 Growth and Development with Pediatric Condition

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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 contributingfactors influencing their care

D. Play is a natural medium for expression, communication, and growth in children

E. Growth id complex, with all aspects closely relatedF. 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 period4. After puberty : decline in growth rate till death

H. There are regular patterns in the direction of growth and development ,such ascephalocaudal law and proximodistal

I. Different parts of the body grow at different rates

1. Prenatally: head grows the fastest2. 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 primitivereflexes 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 life2. Capacity in males exceeds that in females

C. Basal metabolism

1. Highest rate is found in the newborn2. Rate declines with increase in age, higher in males than females



Urinary System1. 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 valuesbetween 1-2 years ; gradually decreases after 20 years

Digestive System1. Stomach is small gradually increases during infancy and childhood

2. Peristaltic activity decreases with advancing age

3. Blood glucose level rise from infancy to adolescence4. 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 System1. 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 increase3. Maturation of the brainstem and spinal cord follows cepahlocaudal and proximodistal

laws

THE INFANT

1 monthA. 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 life3. 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 prone2. 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 presentC. Sensory

1. Eye movements coordinated most of the time; follows a light to midline

2. Visual acuity 20/100 to 20/50D. 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 forearms2. 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 disappears5. Plays with fingers and hands

C. Sensory

1. Follows a light to the periphery2. 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 doubles2. 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; balancesthe 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 distances5. 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 prone8. 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 horizontalprone 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 developing3. 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 life2. 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 upperincisors

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.

Sensory1. Has taste preferences; will spit out disliked food

2. Recognize that things are still present even though they cannot be seenD. 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 coordination3. Developing pincer grasp

4. Crawls may go backward at first

B. Sensory

1. Depth perception is increasing

2. Displays interest in small objectsC. 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 truewords 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 equal4. Upper and lower lateral incisors usually have erupted , for total of 6to 8 teeth

B. Motor1. Creeps

2. Stands alone for a short times, walks with help

3. Can sit down from a standing position without help4. 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 binocularity2. Discriminates simple geometric forms

D. Socialization and vocalization1. Shows emotions such as jealousy, affection, anger

2. Enjoys familiar surroundings and will explore away from mother

3. Fearful of strange situations or with strangers4. 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 deathB. Mostly used for physical development

C. Toys needs to be simple because of short attention span

D. Visual and auditory stimulation is importantE. 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 asleepB. 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 foodsE. 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 preventionA. 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 prevention1. 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 infant’s neck; remove bibs after use

d. Drowning: never leave infant alone in the bath

3.

Fallsa. Always raise crib rails

b. Never leave o a raised, unguarded surfacec. Restrain child in the infant seat and never leave unattended while the seat is

resting on raised surface

d. Avoid using high chair4. 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 infantd. Do not leave in the sun more than a few minutes

5. Aspiration

a.

Keep buttons, beads, and other small objects out of infant’s reach; keep floor out

of small objectsb. 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 playthings6. 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 toxicsubstances 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 spoonB. 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 drawing3. Drinks well in cup; manages spoon well

4. Builds tower of three or four cubesC. Vocalization and socialization

1. Says 10 words or more

2. New awareness of strangers3. 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 cm3. Teeth: 16 temporary; begins visits to dentist

B. Motor

1. Gross motor skills quite refined2. Can walk up and down stairs

3. Builds tower of six to seven cubes or will make cube into a train

C. Sensory1. 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 pronouns2. Obeys simple commands, shows signs of increasing autonomy and individuality;

makes simple choices when possible

3. Can help undress self and pull on simple clothes4. Does not share possessions, everything is ―mine‖



30 months

A. Physical

1. Full set of 20 temporary teeth

2. Decreased need for naps

B.

Motor1. Walks on tiptoe; stands on one foot momentarily

2. Builds tower of eight blocks

3. Copies horizontal or vertical lines4. May attend to own toilet needs

C. Vocalization and socialization

1. Begins to see self as separate individual2. Still see other children as objects

3. Increasingly independent, ritualistic, and negativistic

Major learning Events

A. Toilet training: most important task of the toddler1. Physical maturation must be reached before training is possible

a. Sphincter control

b. Able to retain urine for at least 2 hoursc. 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 readinessa. 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 traininga. Begins with bowel then bladder

b. Accidents and regression frequently occur

4. Parental responsea. Choose a specific word for the act

b. Have a specific time and place

c. Do not punish for accidentsB. Need for independence without overprotection; the parents should be consistent, set

realistic limits, reinforce desired behavior, and be constructive, geared to teach self-

control, and punish appropriately.

Play during Toddlerhood (parallel play)

A. Plays along side with children but not with themB. 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 development2. 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 levelsB. Diet: calorie and nutrient requirements increase with age

Injury Prevention

A.

More than half of accidental child deaths are related to automobiles and fireB. Accidents can be viewed in terms of child’s growth and development, especially curiosity

about the environment1. Motor vehicle

2. Burns

a. Investigating: pulls off pot off the stove; plays with matches; inserts an object towall 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 mouthb. 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 waterb. Child is unaware of inability to breathe under water

5. Aspiration

a. Puts everything in mouthb. Very interested in body and newly found openings

6. Fractures

a. Climbing, running, and jumpingb. 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 feet2. 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 nightC. Sensory: visual acuity 20/30


1. Vocabulary of about 900 words; uses three-to-four-word sentences; uses plurals; mayhave normal hesitation in speech pattern

2. Begins to understand ideas of sharing and taking turns

E. Mental Abilities1. Beginning understanding of the past ,present, future, or any aspect of time

2. Stage of magical thinking

4 years

A. Physical1. Height and weight increases are similar to previous year

2. Length at birth is doubled

B. Motor1. 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 socialization1. 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 othersD. Mental Abilities

1. Unable to conserve matter

2. Can repeat four numbers and is learning number concept3. 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 10seconds; 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 shoelacesC. Sensory

1. Color recognition is well established

2. Minimal potential for amblyopia to develop




1. Vocabulary of about 2100 words; talks constantly; asks meaning of new words2. Generally cooperative and sympathetic towards others

3. Basic personality structure is well established

E. Mental abilities (Piaget’s 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 rulesB. 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

childrenE. 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 growth1. 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. Motor1. 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 once2. 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 thoughappearance 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 sex-

oriented 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; fearsbodily 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 anotherchromosome

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 (brushfield’s spots) due to chromosomalaberration

Mental retardation (estimated IQ of 30 to 70) and congenital defects (heart

defects, duodenal atresia, hirshsprung’s 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

Klinefelter’s 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 variablephysical 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 .


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 wellas 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 Xchromosome, 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

http://emedicine.medscape.com/article/993616-overview




The major consequences of the extra sex chromosome, usually acquired through

an error of nondisjunction during parental gametogenesis, includehypogonadism, 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 functionalseminiferous 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 inpubertal patients with Klinefelter’s 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 thepalatine 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 andpalatine 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 alveoluson one or both sides of the premaxilla


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 contentsalong the bowel. Examples are amyloidosis, muscular dystrophy, neurologic

disorders like Parkinson’s diseases. The blockage can also be temporary and theresult of manipulation of the bowel during surgery


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. Thepatient 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 thebladder 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 portionacquires 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 theanal 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 cloacato descend and failure of the proctodeum to invaginate. Continued communication

between the urogenital tract and rectal portions of the cloacal plate causesrectourethral 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 orvestibular fistula) to virtually no muscle (complex long – common-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


Marked hypertrophy and hyperplasia of the 2 (circular and longitudinal) muscular

layers of the pylorus occurs, leading to narrowing of the gastric antrum. Thepyloric 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 toprogress 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, smallerstools 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 fordeveloping 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 (Hirschprung’s 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 continuesproximally 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 distalaganglionic 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 beresponsible for this theory


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 bowelfunction, 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 relaxationpredominating. 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.


Blood flows from the high-pressure left ventricle across the VSD into the low-

pressure 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 rightventricle 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 sweatingassociated 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 openingin 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.




Blood flow from the higher-pressure left atrium across the ASD into the lower-

pressure left atrium (left to right shunt)

Increased blood return to the right heart leads to right ventricular volumeoverload 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 beheard 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


During fetal life, the ductus arteriosus allows blood to bypass the pulmonarycirculation (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 inthe 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 orthird 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. Pulmonary valve stenosis2. Ventricular septal defect

3. Overriding aorta

4. Right ventricular hypertrophy




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 resultsin deoxygenated blood being shunted across the VSD and into the aorta (right-to-

left shunt cyanosis)

Right ventricular outflow tract obstruction can occur at any or all of the followingthree levels: pulmonary valve stenosis, infundibular hypertrophy, or supravalvular

stenosis

The right ventricle becomes hypertrophied as a result of the increased gradientacross the RVOT

Transposition of the Great Arteries/ Vessels

TGA occurs when the pulmonary artery arises off the left ventricle and the aorta arisesoff the right ventricle. It accounts for 5% to 10% of congenital heart defects.


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; bloodflow 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 pregnancyb. 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.


Possibly ,a depression or dimple,tuft hair, soft fatty deposits,port wine nevi, or acombination 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 asflaccid 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,Dandy-

walker 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 theoptic nerves, dilates the sella turcica, and often compresses the hypophysis

cerebri.

c. The basal ganglia, brain stem, and cerebellum remain relatively normal butcompressed.

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 Brudsinki’s and kergnig’s signs, exaggerated andsymmetrical 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 behindthe 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 thebody, spermatogenesis is impaired, leading to reduced fertility.




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 positioningb. Primary arrest in fetal development

c. Familial tendency (about 10% of cases)

d. Neuromuscular defect


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 abilityto correct position

Deforminity becomes fixed if untreated ,ahich can lead to:

a. Child bearing weight on lateral border of footb. 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 familialtendency 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 afterreintroduction 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 anddrugs 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 wherethey 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


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, x-

linked 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 Xchromosome (hemophilia B)

Classificationa. 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 anessential 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


Spontaneous bleeding is ever hemophilia due to lack of clotting factor

Excessive and continued bleeding or bruising hematomas after minor trauma orsurgery 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 A’s in Pathophysiology

2. Saxton, Dolores F., et.al.(2002). Comprehensive review of nursing.6th Ed.

3. Smeltzer, Suzane C., et.al.(2008). Brunner & Suddarth’s Textboook of Medical-Surgical

Nusing.11th

Ed.4. Nettina, Sandra M. (2001). The Lippincot Manual of Nursing Practice.7 th Ed

5. http://emedicine.medscape.com

.

Prepared By:

MAYNARD K. BAIRD, R.N.

growth and development with pediatric condition

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