CHAPTER 27 PHYSICAL OR DEVELOPMENTAL CHALLENGE

IMMEDIATE CARE AT BIRTH OF AN INFANT BORN PHYSICALLY OR DEVELOPMENTALLY CHALLENGED - when a parent gives birth to a child with defects there is usually a delay from medical term in informing the parents - this leads to parents thinking either they have given to a perfect child and the team lacks enthusiasm OR - they have given birth to a child so deformed the team are horrified to talk to them - for this reason, nurses need to be familiar with the most frequently encountered physical or developmental anomalies so that they can explain the problems to the parents - nurses must also be ready to serve as back-up informants - explain to parents what the disorder consist of and what the usual prognosis is before showing the baby to them - plan for adequate pain management for neonate

PHYSICAL & DEVELOPMENTAL DISORDERS OF THE GASTROINTESTINAL SYSTEM - many congenital anomalies involve the GI tract coz GI tract is formed first as a solid tube ===> undergoes canalization - if canalization does not occur ===> partial or complete blockage or obstruction occur - other disorders such as CLEFT LIP and CLEFT PALATE are result of midline closure failure extremely early in intrauterine life - all of these disorders interfere with infants ability to take in nourishment at birth

ANKYLOGLOSSIA (TONGUE-TIE) - abnormal restriction of the tongue - rarely causes speech diff or destructive pressure on gingival tissue - short frenulum is normal CAUSE - abnormally tight frenulum (membrane attached to lower anterior tip of tongue) - normally, in NB, frenulum appears short and is positioned near tip of tongue - as anterior portion of infants tongue grows, the frenulum becomes located farther back - in most instances, infant is suspected of being tongue-tied has a normal tongue at birth // it just seems short to parents who are unaware of a NBs appearance

THYROGLOSSAL CYST CAUSE - arises from an embryogenic fault that leaves a cyst formed at the base of tongue, which then drains thru a fistula (opening) to the anterior surface of the neck - occur as dominant inherited trait - cyst may involve hyoid bone (bone at anterior surface of neck at root of tongue) or may contain aberrant thyroid gland tissue - as cyst fills with fluid ===> swelling and obstruction ===> RR diff from pressure on trachea - if infected cysts appears swollen and reddened, with drainage of mucus or pus from anterior neck THERAPEUTIC MANAGEMENT - cyst is surgically removed - to avoid future infection of the space OR

- if thyroid is present, the possibility of developing thyroid carcinoma later in life ASSESSMENT - assess infant after surgery for RR distress - operative area will develop some edema from surgical trauma - position infant on sides so secretion drain freely from their mouths - IV fluid is given after surgery until edema at incision recedes somewhat and swallowing is safe once more (approx. 24 hrs) - if mother is BF and infant is NPO, ask her to express her milk manually to preserve her milk supply - observe infant the first time the take fluid orally to be certain they do not aspirate - be certain parents feed infant before infant is discharged from unit so they can see that infant is swallowing safely - important in helping confidence

CLEFT LIP & PALATE CLEFT LIP - normally the maxillary and median nasal processes fuse between 5-8 weeks of intrauterine life - infant with CLEFT LIP, fusion fails to occur in varying degrees ===> disorder range from small notch in upper lip to total separation of lip and facial structure up into the floor of nose, with even the upper teeth and gingiva absent - deviation maybe unilateral or bilateral - nose is generally flattened coz the incomplete fusion of upper lip allowed it to expand in horizontal dimension - more prevalent among boys than girls - higher in Asian population - lower in Black population CAUSES - familial tendency - transmission of multiple genes - teratogenic factors present during week 5-8 of intrauterine life - viral infection - deficiency of folic acid CLEFT PALATE - normally palatal process closes at approx. weeks 9-12 of intrauterine life - CLEFT PALATE (an opening of the palate) is usu on the midline and may involve the anterior hard palate, the posterior soft palate, or both - maybe a separate anomaly but as a rule it occurs in conjunction with cleft lip - occurs more in girls than boys CAUSES - polygenic inheritance - environmental influences ASSESSMENT CLEFT LIP - detected by sonogram in utero - if not detected, apparent at birth CLEFT PALATE - determined by depressing NBs tongue with tongue blade - reveals total palate and extent of any cleft present - if child has this, assess for other congenital anomalies - cleft palate is a component of many syndromes

THERAPEUTIC MANAGEMENT CLEFT LIP - if cleft lip is discovered while infant is still in utero === fetal surgery - if disorder not discovered until birth === surgical repair often at time of initial hospital stay between 2-10 weeks of age - some infants will have nasal mold apparatus applied before surgery to shape a better nostril - early repair helps infant experience pleasure of sucking as soon as possible - parents have hard time bonding with infant with deformity - when child reaches 4-6 years old === revision of original repair because facial contours change as child grows CLEFT PALATE - early repair increases speech development but may result in a necessary second-stage repair as childs palate arch grows - RECOMMENDED IS two-stage palate repair - with soft palate repair at 3-6 months of age - hard palate repair at 15-18 months of age - palate repair narrows upper dental arch ===> less space in upper jaw for eruption of teeth - follow up treatment by pedodontist

PIERRE ROBIN SYNDROME - aka Pierre Robin sequence TRIAD OF 1. micrognathia (small mandible) 2. cleft palate 3. glossoptosis (tongue malpositioned downward) - an example of cleft palate occurring as only one part of syndrome - rare disorder (1 in 8500 births) MAY HAVE ASSOCIATED DISORDERS OF 1. congenital glaucoma 2. cataracts 3. cardiac disorders ASSESSMENT - be certain infant with this disorder is not developing airway obstruction - may need frequent nasopharyngeal suctioning to remove un-swallowed saliva - at birth, children may have diff breathing === as a result of small jaws === tongues are too large for their mouths ===> tongue drops backward and obstruct airway - usu occur when child in supine position - use a side-lying position when sleeping - if severe, attached a suture to anterior aspect of tongue === pulls tongue forward - gastrostomy tube or button is inserted to relieve feeding diff - as child grows, mandible grows as well - growth with repair of cleft palate ===> decrease RR problems - tell parents to use RR monitor at night to monitor infants breathing - allows parents to sleep as well from worrying

TRACHEOESOPHAGEAL ATRESIA AND FISTULA - between 4-8 weeks of intrauterine life, laryngotracheal groove develops into larynx, trachea, and beginning lung tissue - esophageal lumen forms parallel to this - a number of anomalies formed when the two organs are not allowed to separate but remained connected - esophageal atresia is obstruction of the esophagus - often a fistula (opening) occurs between the closed esophagus and the trachea 5 USUAL TYPES OF ESOPHAGEAL ATRESIA 1. esophagus ends in a blind pouch; there is a tracheoesophageal fistula between the distal part of the esophagus and the trachea 2. esophagus ends in a blind pouch; there is no connection to the trachea 3. fistula is present between an otherwise normal esophagus and trachea 4. esophagus ends in a blind pouch // a fistula connects the blind pouch of the proximal esophagus to the trachea 5. there is a blind end of the esophagus // fistulas are present between both widely spaced segments of the esophagus and the trachea - these are serious disorders coz during feeding, milk can fill the blind esophagus and overflow into trachea OR a fistula can allow milk to enter trachea ===> aspiration ASSESSMENT - tracheoesophageal atresia must be ruled out in any infant born to woman with hydramnios (excessive amniotic fluid) - a fetus with this condition cannot swallow ===> amount of amniotic fluid grow abnormally large - many fetus with this condition are born preterm coz of accompanying hydramnios (compounding their original problem with immaturity) - assess infant for VACTERL syndrome that could occur during same week in gestation as condition above - vertebral - anal - cardiac - tracheoesophageal - renal - limb anomalies - if infant not diagnosed and is fed ===> coughing, cyanosis, diff breathing - if NB have so much mucus in mouth that they appear to be blowing bubbles should be suspected of tracheoesophageal fistula DIAGNOSIS - if catheter cannot be passed thru infants esophagus to stomach OR stomach contents cannot be aspirated - a flat-plate radiograph of abdomen or UTZ can reveal a stomach distended with air that is passing from trachea into esophagus and stomach - barium swallow or bronchial endoscopy examination can also reveal blind-end esophagus and fistula THERAPEUTIC MANAGEMENT - emergency surgery is essential to prevent development of - pneumonia from leakage of stomach secretions to lungs - dehydration - electrolyte imbalance from lack of oral intake - surgery consists of closing fistula and anastomosing esophageal segments - maybe necessary to complete surgery in different stages and to use portion of colon to complete the anastomosis if esophageal segments are far apart from each other - observe infants at postoperative days 7-10 when sutures dissolve - leaks occurring at anastomosis sites can occur at this time

- if it does occur ===> fluid and air leak out into chest cavity ===> pneumothorax (collapse of lungs) results - some infants, some stenosis or stricture at anastomosis site remains - if it occurs === esophageal dilatation at periodic intervals to keep the repaired esophagus fully patent is necessary - gastroesophageal reflux may occur after a repair if esophagus is left shorter than usual ===> recurrent fistula formation from presence of stomach acid in the esophagus - if defect is simple fistula, can be repaired with endoscopic technique and application of fibrin glue to seal fistula - antibiotics are given to help prevent infection - gastrostomy is done (under local anesthesia) and tube allowed to drain by gravity to keep stomach empty of secretions and prevent reflux into lungs - upper R lobe pneumonia from aspiration is one of major complications of this disorder

OMPHALOCELE - a protrusion of abdominal contents thru abdominal wall at point of junction of umbilical cord and abdomen - herniated organs usu intestines, but may include stomach and liver - usu covered and contained by a thin layer of transparent layer of amnion and chorion with umbilical cord protruding from exposed sac - when defect is < 4 cm ==== hernia of umbilical cord - when > 10 cm === true omphalocele OCCURS - this condition occurs coz at approx. weeks 6-8 intrauterine life, fetal abdominal contents, growing faster than fetal abdomen, are extruded from abdomen into base of umbilical cord - at 7-10 weeks when abdomen has enlarged sufficiently, intestine returns to abdomen - omphalocele occurs when abdominal contents fail to return in usual way - occurrence is associated with chromosomal aberrations - previous association between serotonin-reuptake ingestion during pregnancy has proven to be false ASSESSMENT - diagnosed by prenatal sonogram - maybe revealed by elevated maternal serum alpha-fetoprotein (MSAFP) examination during pregnancy - if not, it is obvious during birth - when identified in utero === CS birth is performed to protect exposed intestine - if this is the only disorder identified === vaginal birth can be allowed to proceed THERAPEUTIC MANAGEMENT - surgery within 24 hrs to replace the bowel before thin membrane surrounding it ruptures or becomes infected - if total bowel were replaced into this small abdomen ===> RR distress could result from pressure of visceral bulk on diaphragm and lungs - also bowel might not have room for effective peristalsis - if omphalocele is small === one-stage repair - if large === use of prosthetic patch repair that bridges the unformed gap on abdomen with synthetic material with skin drawn tight and closed over patch - second approach is to replace only a portion of bowel - remainder is contained by a Silastic pouch termed a silo suspender over infants bed - over the next 5-7 days, bowel is gradually returned to abdomen - during this time, infant is fed by total parenteral nutrition and keep bowel from filing with air or stool

GASTROSCHISIS - condition similar to omphalocele - except that abdominal wall disorder is a distance from the umbilicus, usually to the right, and abdominal organs are not contained by a membrane but rather spill freely from abdomen - greater amount of intestinal content tends to herniate ===> increase potential for volvulus and obstruction

OCCURS - coz of ischemia to blood vessels that supply the abdominal wall during 1st trimester of pregnancy THERAPEUTIC MANAGEMENT - care and surgical procedure is same with omphalocele - children often have decreased bowel motility - even after surgical correction may have difficulty with absorption of nutrients and passage of stool - long term follow up is necessary to ensure that nutrition and elimination are adequate

INTESTINAL OBSTRUCTION - if canalization of intestine does not occur in utero - atresia (complete closure) - stenosis (narrowing) of fetal bowel develops - most common site is duodenum OCCUR - obstruction may occur coz the mesentery of bowel twisted as bowel re-entered abdomen (after being contained in the base of umbilical cord early in intrauterine life) OR - from looseness of the intestine in the abdomen after it has returned - thicker-than-usual meconium formation, blocking the lumen (meconium plug or meconium ileus) - this twisting pattern is termed volvulus and continues to be a problem for the first 6 months of life until infant develops firmer intestinal supports ASSESSMENT - maybe anticipated if mother has hydramnios during pregnancy (swallowed amniotic fluid could not be absorbed effectively by fetus) - or if more than 30 mL of stomach contents can be aspirated from NB stomach by catheter and syringe at birth (fluid is not passing freely thru the tract) - if obstruction not revealed, S/S of neonate: - passes no meconium OR - may pass one stool (meconium that formed below obstruction) and then not pass anymore - abdomen becomes distended and tender - infant will vomit as it progresses - vomit smells barely sour // true vomit is sour smelling (stomach acid has acted on it) and occurs spontaneously without coughing or back-patting - obstruction is rare above ampulla of Vater (junction of bile duct with duodenum) so vomitus will be bile stained (greenish) - because meconium is black, vomitus is also dark

- bowel sounds increase with obstruction coz of increase in peristaltic action that occurs as intestine attempts to push stool pass point of obstruction - waves of peristalsis is evident across abdomen - pain is evident by---hard, forceful, indignant crying - and pulling legs up against abdomen - RR rate increase as intestine fills and diaphragm is pushed up against lungs and lung capacity decreases DIAGNOSIS - abdominal flat-plate radiograph or sonogram will reveal no air below level of obstruction in intestines - barium swallow or barium enema x-ray film maybe used to reveal position of obstruction THERAPEUTIC MANAGEMENT - when bowel obstruction is confirmed, orogastric or nasogastric tube is inserted and then attached to low suction or left open to air to prevent further GI distention from swallowed air - always use low intermittent suction with decompression tubes in neonates - pressure greater than this can irritate and ulcerate their stomach lining - IV therapy is necessary to restore fluid and immediate surgery is scheduled coz bowel obstruction is an emergency that must be treated before dehydration, electrolyte imbalance, or aspiration of vomitus occurs - repair of obstruction (with exception of meconium plug syndrome) is done by laparoscopy or thru an abdominal incision - area of stenosis or atresia is removed - bowel is anastomosed - if repair is anatomically diff === temporary colostomy, infant is d/c to home care, and surgery is rescheduled at about 3-6 months of age - final surgical procedure will restore child to full health

MECONIUM PLUG SYNDROME - extremely hard portion of meconium has completely blocked the intestinal lumen ===> bowel obstruction CAUSE - unknown - probably reflects normal variations of meconium consistency - maybe associated with Hirschsprungs disease and is strongly associated with cystic fibrosis - meconium plug usu form in lower end of bowel coz this meconium formed early in intrauterine life and has the best chance to dry and obstruct the bowel lumen ASSESSMENT - S/S of obstruction may not occur for at least 24 hrs - abdominal distention - vomiting - infant is identified as infant with no meconium passage in the past 24 hrs of age - gentle rectal exam may reveal presence of hardened stool - radiograph or sonogram reveal distended air-filled loops of bowel up to point of obstruction - slightly hypertonic water-soluble contrast agent enema not only reveal the level of obstruction but also may be therapeutic in loosening the plug

THERAPEUTIC MANAGEMENT - administration of saline enemas (never use tap water in NB coz it can lead to water intoxication) may cause enough peristalsis to expel the plug - instillation of acetylcysteine (mucomyst) with diatrizoate (hypaque) rectally may be used to dissolve the plug - gastrografin (a highly osmotic radiographic substance) can be given as an enema - substance pulls fluid into bowel coz of its low osmotic pressure ===> allowing stool to soften and plug to pass - infants need to be well hydrated before and after the procedure or they can become hypovolemic from effect of contrast medium - once thickened meconium passed, infant should have no further diff and over the next several hrs may pass a great amount of stool - observe infant for further passage of meconium (should occur at least once daily) over the next 3 days - occasionally, a neonate passes a small plug of hardened meconium -- hard enough it would have caused an obstruction except that it is small -- in the first 1-2 days of life - be certain to record and report such finding coz infant will need close observation for continued defecation - assess family history of NB who has meconium plug for cystic fibrosis === recessively inherited disorder or aganglionic megacolon (Hirschsprungs diseease),a polygenic inherited disorder - these disorders maybe the cuase of hardened meconium - hypothyroidism is yet another disorder that may present with constipation or hardened stool in NB - S/S of hypothyroidism - large protruding tongue - lethargy - subnormal body temp - hypothyroid and cystic fibrosis screening is done along with phenylketonuria screening - be certain this blood test is obtained in any NB with meconium plug

MECONIUM ILEUS - obstruction of the intestinal lumen by hardened meconium - specific phenomenon that occurs in infants with cystic fibrosis - reflects extreme meconium plugging - cystic fibrosis - is a recessive disease - enzyme that moistens and makes all body fluids free-flowing is absent ===> all body fluids are thick and tenacious - thought of as lung disorder because of severe s/s of tenacious secretions in lungs (tenacious lung fluid leads ===> stasis and infection and alveolar obstruction ===> to reduce air exchange) - intestinal and pancreatic secretions are also affected (signaled at birth by hardened obstructive meconium at ileus level from lack of pancreatic trypsin section (meconium ileus) ===> bowel obstruction - S/S OF BOWEL OBSTRUCTION - no meconium passage - abdominal distention - vomiting of bile-stained fluid - if obstruction is too high for enema to reduce === bowel is incised and hardened meconium removed by laparotomy

DIAPHRAGMATIC HERNIA - protrusion of an abdominal organ (usually stomach or intestine) thru a defect in diaphragm into chest cavity

- usually occurs on L-side ===> cardiac displacement to R-side of chest & collapse of L-lung - no difference between male & female incidence CAUSE - occurs coz early in intrauterine life, the chest and abdominal cavity are one - at approx. 8 week, diaphragm forms to divide them - if diaphragm does not form completely ===> intestines herniate thru diaphragm opening into chest cavity ASSESSMENT - detected by sonogram - if extreme === surgery is done to remove bowel from chest by fetoscopy while fetus is still in utero S/S - RR diff at birth (one of the lungs cannot expand well or not fully formed) - sunken abdomen because it lacks intestine - cyanosis - intercostal and subcostal retractions - may develop pulmonary HTN coz blood cannot perfuse thru unexpanded lungs ===> R-to-L shunting thru foramen ovale and also PDA remains open THERAPEUTIC MANAGEMENT - surgery to repair diaphragm and replacement of herniated intestines back into abdomen - surgery repair is done by laparoscopy - difficult repair requires thoracic incision and placement of chest tubes - if disorder of diaphragm is large === insoluble polymer (Teflon) patch is used in reconstruction - repair is complicated if there is not enough room in abdomen for intestine to be returned - abdominal incision may not be closed but left open to allow intestine to protrude abdominally - it is covered by silicone elastomer (Silastic) and left to be closed at a later date after abdomen has grown - over the next week, compressed lung will gradually expand and begin to function - if lungs are hypoplastic from pressure of intestine to uteru - with severe pulmonary HTN - requires therapy with high-frequency oscillatory ventilation, inhaled nitric oxide, or extracorporeal membrane oxygenation (ECMO)

UMBILICAL HERNIA - protrusion of a portion of the intestine thru the umbilical ring, mm, and fascia surrounding the umbilical cord - this creates a bulging protrusion under the skin at umbilicus - rarely noticed @ birth while cord is still present - becomes increasingly noticeable during first year - occur most frequently in African American - more often in girls than boys - structure is generally 1-2 cm (0.5 - 1 in) in diameter - but maybe as large as orange when children cry or strain - size of protruding mass is not as important as size of fascial ring thru which the intestine protrudes - if fascial ring < 2 cm === closure occur spontaneously and no repair is necessary - if fascial ring > 2 cm === surgery to prevent herniation and intestinal obstruction or bowel strangulation - this is done when child is 1-2 years of age

- some parents believe that holding an umbilical hernia in place by using belly bands or taping a silver dollar over the area will help to reduce the hernia - these actions lead to bowel strangulation and should be avoided THERAPEUTIC MANAGEMENT - surgery done on ambulatory outpatient basis - child returns from surgery with a pressure dressing, which remains in place until the sutures are well healed - remind parents to sponge-bathe the child until they return for postoperative visit and the dressing is removed - if child not yet toilet trained, they need to keep diapers folded down below the dressing to prevent contaminating the suture line with stool

IMPERFORATE ANUS - is stricture of anus - in week 7 of intrauterine life === upper bowel elongates to pouch and combine with a pouch invaginating from perineum - the 2 sections of bowel meet ===> membranes between them are absorbed ===> bowel is then patent to the outside OCCURS IN - if this motion toward each other does not occur OR - if membrane between 2 surfaces does not dissolve ===> imperforate anus - may occur as additional complication of spinal cord disorders coz both external anal canal and spinal cord arise from same germ tissue layer - condition can be minor (involving just surgical incision) or much severe (involving sections of bowel that are many inches apart with no anus) - there maybe an accompanying fistula to bladder in boys and to vagina in girls === further complicating surgical repair - problem is more common in boys than girls ASSESSMENT METHODS FOR DETECTING IMPERFORATE ANUS 1. prenatal sonogram 2. discovered @ birth when no anus is present (this is not helpful coz some condition anus is normal but imperforation exist far inside) 3. condition maybe revealed coz membrane filled with black meconium can be seen protruding from anus 4. WINK REFLEX (touching skin near rectum should make it contract) will be absent if sensory nerve endings in rectum are not intact - if these methods fail to detect condition - it can be discovered by inserting a rubber catheter into rectum - no stool is passed and abdominal distention evident - radiograph or sonogram will reveal disorder if infant is held in head-down position to allow swallowed air to rise to end of the blind pouch of bowel - this method is helpful to estimate the distance the intestine is separated from perineum or extent of correction that will be necessary - when infants fail to pass stool after first 24 hours === investigate reason why - collect a urine specimen on infants with imperforate anus === detects presence of meconium to help determine whether the child has a rectal-bladder fistula - placing a urine collector bag over the vagina in girls may reveal a meconium-stained discharge or a rectovaginal fistula

THERAPEUTIC MANAGEMENT - degree of difficulty in repairing imperforate anus depends on extent of problem - if rectum ends close to perineum (below or at level of levator ani mm) and anal sphincter is formed === repair involves simple anastomosis of separated bowel segments - repair becomes complicated if end of rectum is at a distance from perineum (above levator ani mm) or the anal sphincter exist only in an underdeveloped form - all repairs are complicated if fistula to bladder or vagina is present - if repair is extensive === doc may do temporary colostomy - anticipating final repair when infant is somewhat older (6-12 months) - for successful repair === it is unnecessary for internal rectal sphincter to be present as long as the subrectal mm is judged to be intact

PHYSICAL AND DEVELOPMENTAL DISORDERS OF THE NERVOUS SYSTEM - most common developmental disorders of the NS (nervous system) at birth include - abnormal accumulation of cerebrospinal fluid (CSF) or hydrocephalus - abnormalities associated with neural tube closure (meningocele or spina dysraphism) - all of these are results of multifactoral inheritance and nutritional deficits

HYDROCEPHALUS - is an excess of CSF in ventricles or the subarachnoid space - CSF - formed in 1st and 2nd ventricles of brain ===> passes thru aqueduct of Sylvius and 4th ventricle ===> empty into subarachnoid space of spinal cord (where it is absorbed) - in infant whose cranial sutures are not firmly knitted ===> excess fluid cause enlargement of skull CLASSIFICATIONS OF HYDROCEPHALUS - Communicating Hydrocephalus OR Extraventricular Hydrocephalus - if fluid reaches spinal cord - Obstructive Hydrocephalus OR Intraventricular Hydrocephalus - if there is a block to passage of fluid OTHER CLASSIFICATIONS OF HYDROCEPHALUS - congenital (occurs @ birth) - acquired (incident later in life) CAUSE - unknown - but associated with maternal infection - toxoplasmosis or infant meningitis EXCESS OF CSF IN NB OCCURS IN 1 OR 3 MAIN REASONS: 1. overproduction of fluid by choroid plexus in 1st or 2nd ventricle, as could occur from a growing tumor (rare)

2. obstruction of passage of fluid in narrow aqueduct of Sylvius (most common cause). Other common sites of obstruction include: foramina of Magendie & Luschka, the openings that allow fluid to leave the 4th ventricle. Obstruction occurs coz infections such as meningitis or encephalitis may leave adhesions behind that block fluid flow. Hemorrhage from trauma or a growing tumor also may obstruct the passage of CSF. An Arnold-Chiari disorder (elongation of the lower brain stem and displacement of the 4th ventricle into the upper cervical canal) is yet another cause 3. an interference with absorption of CSF from subarachnoid space if a portion of the subarachnoid membrane is removed, as occurs with surgery for meningocele, or after extensive subarachnoid hemorrhage, when portions of membrane absorption surface become obscured

ASSESSMENT - when obstruction is present === excessive fluid accumulates and dilates the system above the point of obstruction - if atresia is in aqueduct of Sylvia ===> 1st, 2nd, 3rd ventricles will dilate - if it is at exit from 4th ventricle ===> all ventricles will dilate - S/S may develop rapidly or slowly depending on extent of atresia - if hydrocephalus is present prenatally === can be detected by prenatal sonogram - can be shunted in utero - @ birth it is not evident coz of intrauterine pressure - becomes evident in first few weeks or months of life - S/S - infants fontanelles widen and appear tense - suture lines on skull separate - head diameter enlarges - as fluid accumulation continues === scalp becomes shiny and scalp veins become prominent - brow bulges forward (bossing) - eyes become sunset eyes (sclera shows above the iris because of upper lid retraction) - infant shows S/S of increased ICP (intracranial pressure) - decreased P - decreased RR - increased temp - increased BP - hyperactive reflexes - strabismus - optic atrophy - infant is irritable or lethargic and fail to thrive - have a typical shrill, high-pitched cry BOX 27.3 ASSESSING AN INFANT WITH HYDROCEPHALUS 1. enlarged fontanelles 2. bossing of forehead 3. sunset eyes 4. hyperactive reflexes 5. separated suture line 6. prominent scalp veins 7. increased head circumference 8. lethargy or irritability 9. shrill cry 10.S/S OF ICP - decrease P - increased temp - decreased RR - increased VP

- treatment is most effective when disorder is recognized early - once ICP becomes acute ===> brain tissue is damaged and motor or mental deterioration results - even the best shunting procedure cannot repair this damage to brain cells - all children < 2 years should have their head circumference recorded and plotted on an appropriate growth chart at health care visits - measure NB head circumference within an hour of birth - again before discharge from health care facility to establish baseline - older children who suffered severe head trauma should have their head circumference noted at time of accident - aside from general enlargement of head, note any asymmetry that is occurring - may suggest point of obstruction - skull that is enlarging anteriorly with a shallow posterior fossa === obstruction is in aqueduct or 3rd ventricle - infants motor function becomes impaired as head enlarges - because both neurologic impairment and atrophy caused by inability to move such a heavy head - however, as long as child has more than 1 cm of cerebral tissue present === motor function often not impaired - even with extremely enlarged head === childrens intelligence may remain normal although fine motor development maybe affected DIAGNOSIS - ultrasound - computed tomography (CT - magnetic resonance imaging (MRI) - skull x-ray will reveal separating sutures and thinning of the skull - transillumination (holding a bright light such as a flashlight or a specialized light [a Chun gun] against the skull with child in darkened room) will reveal skull is filled with fluid rather than solid brain - if hydrocephalus is noncommunicating type - dye inserted into a ventricle thru the anterior fontanelle will not appear in CSF obtained from a lumbar puncture THERAPEUTIC MANAGEMENT - treatment depends on its cause and extent - if caused by overproduction of fluid - acetazolamide (Diamox) === a diuretic is given to promote excretion of excess fluid - destruction of portion of choroid plexus is attempted by ventricular endoscopy OR if a tumor in that area is responsible for overproduction of fluid, removal of tumor should provide solution - laser surgery to reopen the route of flow OR - bypassing the point of obstruction by shunting the fluid to another point of absorption - shunting procedure involves threading a thin polyethylene catheter under skin from ventricles to peritoneum - fluid drains via this route into the peritoneum and is absorbed across peritoneal membrane into body circulation - this type of shunt usu has to be replaced as child grows or it will become too short - as another complication, it could become enclosed in a fold of peritoneum and become obstructed or it could become infected - the ultimate prognosis for a child with hydrocephalus is whether brain damage occurred before shunting and if shunt is in place, whether parents can recognize when it needs to be replaced to prevent ICP

NEURAL TUBE DISORDERS - because neural tube forms in utero first as a flat plate and then molds to form brain and spinal cord ===> susceptible to malformation

- SPINA BIFIDA === Latin for divided spine - used as a collective term for all spinal cord disorders - take note that not all neural tube disorders involve spinal cord - all of the disorders occur coz of lack of fusion of the posterior surface of embryo in early intrauterine life - can be compared with cleft palate or cleft lip --- these are also midline closure disorders FACTORS - polygenic inheritance pattern - poor nutrition (diet deficient in folic acid) === major contributing factor - pregnant women are advised to take 600 micrograms of folic acid daily to help prevent this disorder - a woman who have one child with this disorder are advised to have a maternal serum assay or amniocentesis for AFP levels to determine if such a disorder is present in 2nd pregnancy (level is abnormally increased if there is open spinal lesion) - serum MSAFP is done at week 15 of pregnancy when AFP reaches its peak conc. - if result is elevated === amniocentesis is then done to assess level of AFP in amniotic fluid - prenatal sonogram is also helpful to determine presence of disorder

TYPES OF DISORDERS 1. anencephaly 2. microcephaly 3. spina bifida occulta 4. meningocele 5. myelomeningocele 6. encephalocele ANENCEPHALY - absence of cerebral hemispheres OCCURS - occurs when upper end of neural tube fails to close in early intrauterine life DIAGNOSIS - revealed by elevated level of AFP in maternal serum - amniocentesis - prenatal sonogram - infant will have difficulty in labor coz the underdeveloped head does not engage in cervix well - many such infants present in breech position - children cannot survive with this disorder coz they have no cerebral function - but since RR and cardiac centers are located in intact medulla, however, they may survive for several days after birth - when condition is discovered prenatally, parents have option of abortion - ethical problem arise when parents decide to continue pregnancy to use infant for organ transplant

MICROCEPHALY - disorder in which brain growth is so slow that it falls more than 3 standard deviations below normal on growth charts CAUSE - disorder in brain development associated with intrauterine infection such as: - rubella - cytomegalovirus - toxoplasmosis - severe malnutrition - anoxia in early infancy - generally infant is cognitively challenged coz of lack of functioning brain tissue - true microcephaly must be differentiated from craniosynostosis (normal brain growth but premature fusion of the cranial sutures) which also causes decreased head circumference - infant with craniosynostosis have abnormally closed fontanelles and often show bossing of forehead and S/S of increased ICP similar to infants with hydrocephalus - with surgery, craniosysnostosis can be relieved and brain growth will be normal

SPINA BIFIDA OCCULTA OCCURS - when posterior laminae of vertebrae fail to fuse - occurs most commonly at 5th lumbar OR 1st sacral level but may occur at any point along spinal canal - S/S - noticeable as dimpling at point of poor fusion - abnormal tufts of hair - discolored skin is present - simple spina bifida is a benign disorder - term spina bifida denote all spinal cord anomalies MENINGOCELE OCCURS - when meninges covering spinal cord herniate thru unformed vertebrae - S/S - protruding mass - usu approx. size of an orange at center of back - generally occurs in lumbar region, although it might be present anywhere along spinal canal - protrusion may be covered by a layer of skin or only the clear dura mater

MYELOMENINGOCELE - spinal cord and meninges protrude thru the vertebrae the same as with meningocele - difference is that spinal cord ends at the point, so motor and sensory function is absent beyond this point ===> lower motor neuron damage - child will have S/S - flaccidity - lack of sensation of lower extremities - loss of bowel and bladder control

- infants legs are lax and they do not move them - urine and stools continually dribble coz of lack of sphincter control - children will have talipes (clubfoot) disorders - development of hip dysplasia - hydrocephalus accompanies myelomeningocele coz of lack of adequate subarachnoid membrane for CSF absorption - the higher the myelomeningocele occurs in cord === the more likely it is that hydrocephalus will occur DIAGNOSIS - CT scan - ultrasound - MRI ENCEPHALOCELE - cranial meningocele or myelomeningocele OCCURS - most often in occipital area of skull but may occur as a nasal or nasopharyngeal disorder - S/S - generally covered fully by skin - but they maybe open or covered only by dura - diff to tell size of encephalocele if only CSF is trapped in protruding meninges or whether brain tissue could be involved - transillumination of sac will reveal solid substance or fluid in sac - CT, MRI, or UTZ will reveal size of skull disorder

ASSESSMENT - discovered in intrauterline life by: - prenatal UTZ - fetoscopy - amniocentesis (discovery of increased AFP in amniotic fluid) or analysis of AFP in maternal serum - if condition is discovered in utero === maybe possible to close lesion by fetoscopic surgery - infants maybe born CS birth to avoid pressure and injury to spinal cord - assess infant born with neural tube disorders whether he has spontaneous movement of lower extremities === assess if child has lower motor function - assess nature and pattern of voiding and defecation - normal infant appears to be always wet from voiding but actually voids in amounts of approx. 30 mL and then is dry for 2-3 hrs before voiding again - infant with motor or sphincter control voids continuously - pattern is same for defecation - observing these feature aids in differentiating between meningocele and myelomeningocele - differentiation will be further established by UTZ or MRI

THERAPEUTIC MANAGEMENT - SPINA BIFIDA OCCULTA - needs no immediate surgical correction - some kids may need surgery to prevent vertebral deterioration coz of unbalanced spinal column

- MENINGOCELE, MYELOMENINGOCELE, ENCEPHALOCELE - immediate surgery to replace contents that are replaceable and to close skin disorder to prevent infection - done as soon after birth as possible (usu within 24-48 hrs) so infection thru exposed meninges does not occur - child with myelomeningocele will continue to have paralysis of lower extremities and loss of bowel and bladder function after surgery coz the absent lower cord cannot be replaced RISK FOR SURGERY - loss of meninges by surgery === limit rate of absorption in CSF ===> buildup of CSF ===> resulting in hydrocephalus TABLE 27.1 MOTOR FUNCTION ABILITY IN CHILDREN WITH MYELOMENINGOCELE
SPINAL CORD LESION T6-12 RESULTANT EFFECTS complete flaccid paralysis of the lower extremities; weakened abdominal and trunk musculature in higher lesions; kyphosis and scoliosis is common; ambulation with maximal support Hip flexion present; paraplegia, ambulation with maximal support Hip flexion, adduction, and knee extension present; hip dislocation common; some control of hip and knee movement possible; ambulation with moderate support Hip flexion, adduction, and varying degrees of abduction; knee extension and weak knee flexion; paralysis of lower legs and feet; ambulation with moderate support As above, with preservation of some foot and ankle movement; ambulation with minimal support Mild loss of intrinsic foot muscular function possible; ambulation without support

L1-2 L3-4 L5 S1-2 S3

ARNOLD-CHIARI DISORDER (CHIARI II MALFORMATION) - caused by overgrowth of neural tube in weeks 16-20 of fetal life - specific anomaly is a projection of cerebellum, medulla oblongata, and 4th ventricle into cervical canal - this causes upper cervical spinal cord to jackknife backward, obstructing CSF flow and causing hydrocephalus - lumbosacral myelomeningocele is also present in approx. 50% in children with this anomaly - prognosis depends on extent of disorder and surgical procedure possible - because of upper motor neuron involvement ===> gagging and swallowing reflexes are absent ===> increase risk for tracheal aspiration - serious levels of sleep apnea may occur that also require surgical intervention

PHYSICAL AND DEVELOPMENTAL DISORDERS OF THE SKELETAL SYSTEM - FACTORS - genetic - environmental

ABSENT OR MALFORMED EXTREMITIES - CONGENITAL SKELETAL DISORDERS RESULT FROM

- maternal drug ingestion - virus invasion during pregnancy - amniotic band formation in utero - children born without an extremity or malformed extremity can be fitted for prosthesis early in life - children will have better function if malformed portion of extremity is amputated before prosthesis is fitted - a well fitted prosthesis that a child learns to use at early age will provide more function and allow a more normal childhood and adult life than if original disorder is left unchanged - lower extremity prostheses are fitted as early as age 6 months (so infant will learn to stand at normal time) - upper extremity prostheses are fitted this early also, so infant can handle and explore objects daily - introducing prostheses early also prevents child from adjusting to a missing extremity, such as writing with feet or sliding across floor rather than walking - these self-adjustments will greatly limit a childs potential - learning to use a hand prosthesis takes weeks to months - gait training for use of lower extremity prostheses begins with use of parallel bars and proceeds to independent walking and mastery of steps - children who are born with absent extremity may need help in mastering not only the use of a prosthesis but also a positive body image of themselves as a whole - children with a congenital extremity do not grieve over loss of extremity as adults or older children do === meaning they move on quickly to rehabilitation FINGER AND TOE CONDITIONS - polydactyly - presence of one ore more additional fingers or toes - usu amputated in infancy or early childhood - these extra fingers are often just cartilage or skin tags - removal is simple and cosmetically sound - syndactyly - two fingers or toes are fused - fusion usu caused by simple webbing - separation of digits into 2 is usu successful - if bones of fingers or toes are fused === cosmetic appearance and function cannot be reconstructed

CHEST DEVIATIONS - pectus excavatum - indentation of lower portion of sternum - children usu are born with this condition - but maybe developed after chronic obstructive lung disease or rickets - result is lung volume decreases and heart is displaced to left this condition can be repaired either for cosmetic or to expand lung volume

- pectus carinatum - sternum is displaced anteriorly ===> increasing anterior-posterior diameter of chest - this condition can be repaired for physiologic or cosmetic reasons

TORTICOLLIS (WRY NECK)

- term derived from tortus (twisted) and collum (neck) - torticollis (wry neck) occurs as a congnital anomaly when sternocleidomastoid mm is injured and bleeds during birth OCCUR - tends to occur in NB with wide shoulders when pressure is exerted on head to deliver the shoulder - S/S - infant holds head titled to side of mm involved - chin rotates to opposite side - injury may not be noticeable in NB and may become evident only as original hemorrhage recedes and fibrous contraction occurs at 1-2 months of age - a thick mass over mm can usu be palpated at this time THERAPEUTIC MANAGEMENT - parents need to begin a program of passive stretching exercises - lying infant on flat surface and rotating head thru a full range of motion - parents should encourage infant to look in direction of affected mm - hold the child to feed in such a position that child must look in desired direction - place a mobile on childs crib to encourage child to look toward affected side is also helpful - speaking to and handling child objects from affected side to make child look that way are also helpful exercises - if condition still exist at 1 years of age ==== surgical correction followed by a neck immobilizer is necessary - if extreme injury to mm occured ===> torticollis can lead to elevation of one shoulder ===> risk for scoliosis later in life - botulism (botox) injection maybe given as treatment - however not necessary or recommended for most infants

CRANIOSYNOSTOSIS - premature closure of sutures of the skull OCCUR - occur in utero or early in infancy coz of rickets or irregularities of calcium or phosphate metabolism - also occurs as a dominantly inherited trait - occurs more often in boys than girls - needs to be detected early coz premature closure of suture line ===> seals the skull closed ===> compromise brain growth - when sagittal suture line closes prematurely ===> childs head tends to grow anteriorly and posteriorly - if coronal suture line fuses early ===> orbits of eyes become misshapen and increased ICP may lead to - exophthalmos - nystagmus - papilledema - strabismus - atrophy of optic nerve with consequent loss of vision - premature closure of coronal suture line is associated with syndactyly - observe infants with syndactyly for head circumference - assess for the foll associated with craniosysnostosis: - syndactyly - cardiac anomalies - choanal atresias - disorders of elbows and knee joints

- measure head circumference on all children age 2 years of younger - posterior fontanelle normally closes at 2 months of age - anterior fontanelle at 12-18 months DIAGNOSIS - radiography - UTZ (reveals fused suture line) - if suture line is sagittal one === treatment may involve only careful observation - if coronal suture line === will need surgically opened to prevent brain compression and abnormally shaped head ACHONDROPLASIA - aka chondrodystrophia - failure of bone growth inherited as dominant trait - causes a disorder in cartilage production in utero - epiphyseal plate of long bones cannot produce adequate cartilage for longitudinal bone growth ===> both arms and legs stunted - bones of cranium are of membranous origin === continues to grow normally - childrens head will appear unusually large in contrast to their extremities - forehead is prominent - bridge of nose is flattened - cognitive development is normal (cartilage problem not brain problem) - childrens trunk are near normal size - thoracic kyphosis (outward curve) and lumbar lordosis (inward curve) of spine may develop DIAGNOSIS - diagnosed in utero or @ birth by comparing length of extremities to normal length (in average child, arms can be extended to distance of midthigh) - radiography (reveals characteristic abnormally flaring epiphyseal lines) - people with this disorder rarely reaches height of more than 4 feet 6 inches (140 cm) - women with this condition will have diff with child bearing coz of small pelvis ===> CS birth

THERAPEUTIC MANAGEMENT - maybe given growth hormone to increase their ultimate height OR - leg lengthening maybe possible

TALIPES DISORDERS - Latin word // talus means ankle // pes means foot === ankle foot - ankle-foot disorder - popularly called CLUBFOOT - correction should leave the child with normal foot position - however shoe size may vary as much as two shoe sizes - and child may have asymmetry of leg length - occurs more in boys than girls - inherited as polygenic pattern - usu occurs in unilateral problem

- some newborns have pseudo-talipes disorder that has developed coz their intrauterine position - in these infants, foot looks to be turned in but can be brought into a straight position by manipulation - in a true disorder, the foot cannot be properly aligned without further intervention 4 TYPES OF TALIPES DISORDER 1. plantarflexion (an equinus or horsefoot position with forefoot lower than heel) 2. dorsiflexion (heel is held lower than forefoot or anterior foot is flexed toward anterior leg) 3. varus deviation (foot turns in) 4. valgus deviation (foot turns out) - most children with talipes disorder have combination of these or have an equinovarus or calcaneovalgus disorder (a child walks on heel with foot everted) ASSESSMENT - the earlier true talipes is recognized, the better will be the correction - make a habit of straightening all NB feet to midline as part of initial assessment to detect this disorder THERAPEUTIC MANAGEMENT - a cast is applied while foot is placed in an overcorrected position - the cast extends above knee to ensure firm correction - change diapers frequently to prevent a wet diaper from touching cast and causing it to become soaked with urine or meconium - assess crying in NB with cast // may be due to: - colic - hunger - wet diapers - tingling feeling or circulatory compression (when foot is asleep) from too tight a cast - cast must be changed almost every 1-2 weeks as infant grows - after approx. 6 weeks, final cast is removed - after this, parents need to perform passive foot exercises such as putting infants foot and ankle thru a full range of motion several times a day for several months - infant may have to sleep in Denis Browne splints (shoes attached to a metal bar to maintain position) OR - high top shoes at night for a few more months - infant who did not have successful correction by casting ===> surgery is another option

DEVELOPMENTAL HIP DYSPLASIA - often referred to as congenital hip dysplasia - is improper formation and function of the hip socket - maybe evident as subluxation or dislocation of the head of femur - the acetabulum of pelvis is flattened or shallow - this prevents head of femur from remaining in acetabulum and rotating adequately - in subluxated hip === femur rides up coz of flat acetabulum - in dislocated hip === femur rides so far up that it actually leaves the acetabulum - CAUSE - polygenic inheritance pattern - uterine position that causes less-than-usual pressure of femur head on acetabulum - occurs more often in children of Mediterranean ancestry

- found 6x more frequently in girls than boys - possibly coz hips are normally more flaring in females AND - coz maternal hormone relaxin causes pelvic ligaments to be more relaxed - involvement is usu unilateral - sociocultural methods of childbearing, such as the way infants are carried, may promote or decrease the extent of involvement ASSESSMENT - the longer the condition goes undetected === the more difficult it is to correct - sometimes the affected leg may appear slightly shorter than other one === coz femur head rides so high in socket - this is most noticeable when child is lying supine and thighs are flexed to 90 degree angle toward abdomen - one knee will appear to be lower than the other (a Galeazzi sign) - an unequal number of skin folds may be present on posterior thighs - however, this finding is unreliable because some infants with normal hips have uneven number of posterior thigh skin folds - subluxated or dislocated hips are best assessed by noting whether the hips abduct - in some infants, hip abducts properly at NB assessment, but at time of health maintenance visit at 4-6 weeks; secondary shortening of adductor mm will have occurred, and disorder will be evident - hip dysplasia is difficult to detect at birth in an infant who was born from a footling of frank breech presentation coz knees are stiff and do not flex readily - tight adductor mm occur in children with cerebral palsy - so this disorder must be ruled out DIAGNOSIS - radiography - UTZ - MRI *** reveals the shallow acetabulum and a more lateral placement of femur head than ordinarily seen *** THERAPEUTIC MANAGEMENT - correction involves positioning hip into a flexed, abducted (externally rotated) position to press the femur head against the acetabulum and cause it to deepen its contour by pressure - splints, halters, or casts maybe used - small number of children who do not achieve correction by these methods === surgery and a pin inserted to stabilize hip