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?