Chapter 6 Congenital Diseases and Disorders
neural tube defects prognosis
Dependent on extent of neurological deficit. Spinabifida has the best ____________.
sickle cell anemia prognosis
Variable depending on the degree of severity. Life-threatening disease, with life expectancy into middle age.
cerebral palsy prognosis
Varies depending on impairment. Life-long therapy often required.
Duchenne muscular dystrophy symptoms
Weak muscles, fatigue, waddling gait, toe-walking, spinal deformities. Muscle deterioration. Typically unable to walk by age 12
infections, disease, physical agents such as radiation, drugs and chemical exposure maternal illness like diabetes
What are some common teratogens? (I-D; P-A-S-a-R-D-a-C-E; M-I-L-D)
lip and palate
What are two types of orofacial clefts?
genetics or exposure to teratogen during pregnancy
What causes congenital abnormalities? (G-o-E-t-T-D-P)
undescended testes
What is a congenital disease that affects only males?
projectile vomiting
What is the characteristic symptom in pyloric stenosis?
facial tics
What is the classic symptom of Tourette syndrome?
Trisomy 23
What is the term used to identify Down syndrome that names the congenital defect?
cystic fibrosis prevention
none
down syndrome (Trisomy 21) prognosis
½ born with heart defects. Life expectancy has been extended through advancement in medicine.
intussusception symptoms
Abdominal pain, vomiting, "Current Jelly Stools," Sausage-shaped mass in abdomen.
volvulus symptoms
Abdominal pain that causes the infant to draw up the legs, vomiting of bile, swollen abdomen, bloody stools, tachycardia, tachypnea.
down syndrome (Trisomy 21) diagnostic procedures
1. Chromosomal abnormality 2. Fissured tongue, Macroglossia, Mouth breathing, hypodontia 3. Periodontal disease, decrease caries
tourette syndrome diagnostic procedures
1.) started prior to age 1 2.) No specific cause 3.) Daily Tics >1 year 4.) Motor and vocal tics
sickle cell anemia symptoms
Acute: Episodic attacks of intense pain (crises) in arms, legs, or abdomen, fever Chronic: Jaundice, chronic fatigue, dyspnea, tachycardia, pallor. Infections, stress, and extreme temperatures may trigger a crises.
cystic fibrosis treatment
Antibiotics to fight recurrent infections, mucus-thinning drugs, bronchodilators. Postural drainage, breathing exercises, physical therapy. Omega-3 supplements-Decrease lung infections Gene therapy
tourette syndrome etiology
Autosomal dominant. No gene identified. May be linked to chemicals in the brain. M>F
cystic fibrosis etiology
Autosomal recessive trait. Both parents must have the trait. Children have 25% of getting the defective gene
cleft lip and palate prevention
Avoid smoking before or during pregnancy
intussusception diagnostic procedures
Barium or air enema.
productive cough and shallow breathing
Can you name the signs and symptoms of cystic fibrosis? -intestinal obstruction and wheezy respirations -diarrhea and muscle aches -tachycardia and skin infections -productive cough and shallow breathing
cerebral palsy etiology
Central nervous system damage. 70-80% happen before birth. Causes include maternal rubella, diabetes, anoxia, toxemia, preeclampsia. 10% caused by birth trauma, prematurity, or asphyxia due to umbilical cord being wrapped around infant's neck. Postnatal: Trauma, meningitis, poisoning.
cleft lip and palate description
Cleft lip: One or more clefts in the upper lip. Cleft Palate: hole in the middle of the roof of the mouth.
tourette syndrome description
Disorder of the nervous system that causes repeated involuntary sounds, tics, or movements.
cerebral palsy prevention
Early prenatal care, good maternal health, proper delivery care.
neural tube defects etiology
Expected closure of neural tube between day 20-23 of gestation. Cause of lack of closure unknown. Research supports the lack of folic acid as a cause.
meningomyelocele
External sac that meninges, cerebrospinal fluid, and a portion of thespian cord or nerve roots meningomyelocele meningocele spina bifida occulta
down syndrome (Trisomy 21) description
Extra copy of chromosome 21 (Trisomy 21). Down syndrome is the most common single cause of human birth defects
tourette syndrome symptoms
Facial tics, arm thrusting, throat clearing, jumping, eye blinking, shoulder shrugging. Inappropriate phrases, cursing
Undescended Testes (Cryptorchidism) description
Failure of the testicles to descend into the scrotal sac. 1 in 125 males. Most common genital problem encountered in pediatrics. Testicular descent occurs late in gestation, most common among premature infantsterm-73
neural tube defects prevention
Folic acid during pregnancy
TracheoesophagealFistula (TEF) and Esophageal Atresia symptoms
Frothy white bubblers in the mouth, vomiting, coughing or choking when feeding, cyanosis, dyspnea
hydrocephalus etiology
Genetic defect or developmental disorder associated with the neural tube. Trauma, specific infections
Hirschsprung Disease (Congenital Aganglionic Megacolon) prognosis
Good if successful surgery. If untreated patient may experience severe diarrhea, shock, and death
Undescended Testes (Cryptorchidism) prognosis
Good with proper treatment. At risk for atrophy, sterility, and testicular cancer.
intussusception prognosis
Good, if successful surgery is performed.
volvulus prognosis
Good, it successful surgery is performed.
pyloric stenosis prognosis
Great prognosis if surgery is successful.
hydrocephalus prognosis
Guarded. Expect both cognitive and physical developmental difficulties, vision loss, impaired motor function.
sickle cell anemia description
Hereditary, chronic anemia Sickle or crescent-shaped RBC. Impairs circulation, damage blood vessels, produce organ damage. Most prevalent among those of African descent.
pyloric stenosis diagnostic procedures
History and physical exam. Abdominal X-ray, ultrasound, lab tests (for dehydration, electrolyte imbalance)
over 3000
How many different Genetic abnormalities are there?
neural tube defects description
Include spinabifida, meningocele, myelomeningocele(see p. 117). Develop in the 1stmonth of pregnancy. Incomplete closure of the bones encasing the spinal cord.
spina bifida occulta
Incomplete closure of one or more vertebrae: meningomyelocele meningocele spina bifida occulta
meningocele
Incomplete closure of vertebrae with protrusion of spinal fluid and meninges into the sac: meningomyelocele meningocele spina bifida occulta
sickle cell anemia diagnostic procedures
Infant Screening for at-risk patients. Low hematocrit and sickled cells on blood smear.
cerebral palsy diagnostic procedures
Infant neurological assessment, physical exam. Inability to suck or keep food in mouth, difficulty in voluntary movements, difficulty separating the legs during diaper change, use of only one hand or both hands but not the legs. Ultrasound, CT, MRI.
tourette syndrome prognosis
Life-long, but symptoms lessen with age.
cystic fibrosis description
Life-threatening disorder of the exocrine glands. Production of copious amounts of abnormally think mucus. 100 new cases each year.
pyloric stenosis symptoms
Look for postprandial (after meals) projectile vomiting between 2-4 week of life. Non-bilious vomiting. Dehydration, starvation, palpable mass ("olive")in the epigastricregion.
hydrocephalus diagnostic procedures
Neurological assessment and physical exam. Ultrasound, MRI, CT
Undescended Testes (Cryptorchidism)treatment
New recommendations require Watchful waiting for 9-15 months. Surgical correction between before 2 yo.
pyloric stenosis description
Narrowing of the pylorus (pyloric sphincter). Causes obstruction of flow into the small intestine. M>F infants. Typically seen between 2-4 weeks, rare > 6 monthsterm-88
Hirschsprung Disease (Congenital Aganglionic Megacolon) symptoms
No bowl movement in first 24-48 hours of life. Abdominal distention, fever, failure to thrive, watery diarrhea.
cerebral palsy treatment
No cure. Therapeutic treatment targeted to help overcome functional or intellectual disability. Physical, occupational, speech therapy. Stem cells.
tourette syndrome treatment
No cure. Antipsychotic meds, clonidine to reduce tics. Relaxation, breathing exercises, "let off steam"
down syndrome (Trisomy 21) treatment
No cure. Goal of treatment is to minimize complications. Common complications include heart/valve problems, hearing and visual impairment, increased risk of infection
duchenne muscular dystrophy treatment
No cure. Physical therapy, surgery, orthopedic appliances
neural tube defects treatment
No cure. ____________ ranges from none to surgical repair and supportive measures. (N-T-D-T)
sickle cell anemia prevention
None. Symptomatic prevention includes healthy diet, folic acid supplement, proper hydration, avoid extreme temperatures, moderate exercise and adequate rest.
duchenne muscular dystrophy prevention
None. Parents may consider genetic counseling.
TracheoesophagealFistula (TEF) and Esophageal Atresia prevention
None. Recommend proper prenatal care
Hirschsprung Disease (Congenital Aganglionic Megacolon) description
Obstruction and dilation of the colon with feces. Due to lack of neurological innervation that produces peristalsis. Often seen in association with Trisomy 21
Undescended Testes (Cryptorchidism) symptoms
One or both of the testicles is not palpated on physical exam. Increased risk of future infertility and malignancy. Do not confuse with retractile testes. Retractile testes ascend into the inguinal canal or abdomen, but can be coaxed back to the scrotum. No treatment necessary.
intussusception description
Part of the intestine slides into an adjacent part of the intestine. This "telescoping" often blocks food or fluid from passing through the intestine
cerebral palsy description
Permanent, bilateral, symmetrical, nonprogressiveparalysis due to developmental defects of the brain or trauma at birth
TracheoesophagealFistula (TEF) and Esophageal Atresia diagnostic procedures
Physical exam, X-ray
volvulus diagnostic procedures
Physical exam, imagining studies including abdominal X-ray, upper gastrointestinal endoscopy, contrast enema.
duchenne muscular dystrophy diagnostic procedures
Physical exam, muscle biopsy, blood and urine tests
Undescended Testes (Cryptorchidism) diagnostic procedures
Physical exam, ultrasound to determine location of the testicle.
Cleft lip diagnostic procedures
Physical exam. Formula or breast milk coming out the nose when feeding.
cleft lip and palate diagnostic procedures
Physical exam. Formula or breast milk coming out the nose when feeding.
cystic fibrosis prognosis
Poor. Average life expectancy is 38.
duchenne muscular dystrophy prognosis
Poor. Typically in a wheelchair by 9-12 years old, death commonly within 10-15 years after diagnosis. Death from cardiac or respiratory complications
cystic fibrosis diagnostic procedures
Positive sweat tests, DNA testing prenatally, X-rays, pulmonary function tests.
hydrocephalus prevention
Prenatal care Avoid head injuries Update immunizations
neural tube defects diagnostic procedures
Prenatal evaluation through ultrasound between 14-16 weeks. Aminocentesis. After birth physical exam, X-ray, sensory and motor exa
sickle cell anemia etiology
Presence of abnormal form of hemoglobin (Hemoglobin S). SCT (One Hemoglobin S gene) SCA(Two copies of Hemoglobin S genes)
cleft lip and palate prognosis
Prognosis is good with corrective surgery.
duchenne muscular dystrophy description
Progressive bilateral wasting of skeletal muscle. Strikes early in childhood and can cause death within 10-15 yrs. M>F 1/3600 M
Hirschsprung Disease (Congenital Aganglionic Megacolon) diagnostic procedures
Rectal biopsy, contrast enema.
down syndrome (Trisomy 21) prevention
Risk associated with maternal age 25-29: 1/1250. Age 45: 1/30
volvulus description:
Small bowel twisting causing a blockage of the intestine. Reduced blood supply leading to ischemia and necrosis of the bowel
down syndrome (Trisomy 21) symptoms
Smaller head, rounder corners of the eyes, flat nose, excessive skin in the nape of the neck, large tongue, small ears and mouth. Small hands, short fingers, one or two creases in the hand rather than three.White spots on the colored part of the eye (Brushfieldspots)
cleft lip and palate etiology
Smoking. Cause otherwise unknown. 1 in 1000 births.
TracheoesophagealFistula (TEF) and Esophageal Atresia prognosis
Some long-term effects may include digestive problems, or acid reflu
cerebral palsy symptoms
Spastic: 70%, hyperactive reflexes, raid muscle contraction, muscle weakness, spasticity, underdeveloped limbs. Athetoid: 20% Involuntary muscle movements. Slow, writhing, impaired muscle tone (dystonia). Difficulty speaking Ataxic: 10% Difficulty with balance, depth perception, and coordination. Rhythmic, involuntary movement of the eyeball (nystagmus). Muscle weakness, tremor. Sudden movements nearly impossible.
intussusception treatment
Surgery
TracheoesophagealFistula (TEF) and Esophageal Atresia treatment
Surgery within a few days of birth
cleft lip and palate treatment
Surgery. Feeding devices. Speech therapy
pyloric stenosis treatment
Surgical correction. (P-S-T)
hydrocephalus treatment
Surgical correction. Shunt fluid away from the ventricles to the abdomen.
volvulus treatment
Surgical repair to untwist the intestine.
cystic fibrosis symptoms
Sweat gland increase production of sweat,, thick secretion in the small airways and alveoli. Thick mucus in the GI tract. Sweaty-tasting skin. Productive cough, frequent respiratory infections, wheezing. Abdominal obstruction (due to mucus), vomiting, constipation, electrolyte imbalance. No bowel movement in the first 24 hours. Failure to gain weight in childhood.
sickle cell anemia treatment
Symptomatic treatment including analgesics and hydration. Folatereplacement. Blood transfusions, bone marrow transplant.
TracheoesophagealFistula (TEF) and Esophageal Atresia description
TEF: Connection between esophagus and the trachea EA: Esophagus doesn't form completely. Food does not reach the stomach.
tracheoesophageal fistula
The abbreviation TEF is used for what disorder
down syndrome (Trisomy 21) etiology
Three #21 chromosomes rather that two. Aprox. 1 in 800 births.
hydrocephalus description
Too much cerebrospinal fluid (CSF) in the ventricles of the brain.
TracheoesophagealFistula (TEF) and Esophageal Atresia etiology
Unknown cause of the defect.
Undescended Testes (Cryptorchidism) etiology
Unknown cause, linked to abnormal hormone levels in the fetus.
pyloric stenosis etiology
Unknown cause, possibly genetic
Hirschsprung Disease (Congenital Aganglionic Megacolon) etiology
Unknown, potentially hereditary.
a neurological assessment is the first common diagnostic tool
What is true about Cerebral Palsy? -It is caused by a defective spinal cord development prior to birth -it is marked by too much cerebrospinal fluid on the brain. -a neurological assessment is the first common diagnostic tool -the condition is curable
genetic abnormalities
What varies in severity and presentation
sickle cell anemia, tracheoesophageal fistula and esophageal atresia, pyloric stenosis, volvulus and intussuseception, hirschsprung disease, undescended testes, duschenne muscular dystrophy, cystic fibrosis, trisomy 23, tourette syndrome
Which Congenital diseases have no way of preventing them?
cleft lip and palate
Which disease can smoking affect?
duchenne muscular dystrophy etiology
X-linked recessive disorder
hydrocephalus symptoms
___________ vary. Enlarged head (infant), high-pitched cries, abnormal muscle tone in their legs. Projectile vomiting, irritability, sleepy. Older children: headache, nausea, vomiting, blurred vision, problems with balance, coordination, and walking.
neural tube defects symptoms
_______________ range from dimple, hair tuft, nevus to foot weakness, bowel/bladder dysfunction, sac-like protrusion, partial paralysis, club foot, Chiarimalformation
Hirschsprung Disease (Congenital Aganglionic Megacolon) treatment
affected colon 2) Reconnection of normal bowel
1/33
how many babies does the CDC report that are born with birth defects?
cleft lip and palate symptoms
it is visible at birth
Hirschsprung Disease (Congenital Aganglionic Megacolon) prevention
none
Undescended Testes (Cryptorchidism) prevention
none
intussusception prevention
none
pyloric stenosis prevention
none
tourette syndrome prevention
none
volvulus prevention
none
volvulus etiology
unknown
the defect may occur singly or together and vary in severity
what is known about the cleft lip and palate? -the defect may occur singly or together and vary in severity -it occurs in 1 in 10,000 births -The defect almost always occurs when the mother has diabetes -The defect is usually corrected in one surgery
sickle cell anemia, neural tube defects
which congenital diseases can be prevented or helped with folic acid?
hydrocephalus, cerebral palsy, tracheoesophageal fistula and esophageal atresia,
which diseases can be helped with good prenatal care?