Congenital Diseases and Disorders Flashcards by Jenica Heslop

Description: clumping red blood cells, damaging blood vessels, highest among those of African descent.

Sickle Cell Anemia

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Etiology: condition due to abnormal form of hemoglobin, called hemoglobin S, within the red cells. If two individuals with this trait marry, their offspring has a 25% chance of inheriting it. (1 out of 4)

Sickle Cell Anemia

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Signs/Symptoms: anemic, attacks of intense pain in the arms, legs or abdomen. jaundice in eye. Recurrent bouts of fever, chronic fatigue, dyspnea, tachycardia, cardiac murmurs, and pallor. Infections, stress, and extremes in temperature may trigger the painful crises.

Sickle Cell Anemia

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Diagnostic Procedures: If parents are known carriers, infants should be screened. Hematocrit. Laboratory tests.

Sickle Cell Anemia

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Treatment for Sickle Cell Anemia

Symptomatic. Analgesics, adequate hydration, Bone marrow transplant may be curative. Chronic transfusions may also be ordered.

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Prevention for Sickle Cell Anemia

No Prevention. Genetic. Eating a healthy, balanced diet, taking vitamins including a folic acid supplement, drinking plenty of fluids, avoiding extremes in temperatures, getting moderate exercise and plenty of rest.

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Description: defects of the first month of pregnancy. Incomplete closure of the bones encasing the spinal cord.

Neural Tube Defects: Spina Bifida, Meningocele, and Myelomeningocele.

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Incomplete closure of one or more vertebrae, with NO protrusion of the spinal cord or the membranes covering the brain and spinal cord.

Spina Bifida

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Protrusion of the spinal fluid and meninges

Meningocele

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Results when the external sac contains meninges, cerebral spinal fluid, a portion of the spinal cord, or its nerve roots.

Myelomeningocele

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Etiology: 20 and 23 days gestation. Failure to close. lack of folic acid in pregnant women’s diet.

Neural Tube Defects: Spina Bifida, Meningocele, and Myelomeningocele.

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Signs/Symptoms: Dimple in the skin, Partial paralysis and bladder and bowel dysfunction. Twisted or abnormal legs and feet, (club foot), And Chari malformation. (back portion of the brain is pushed through the hole in the bottom of the skull.

Neural Tube Defects: Spina Bifida, Meningocele, and Myelomeningocele.

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Diagnostic Procedures for Neural Tube Defects: Spina Bifida, Meningocele, and Myelomeningocele

Prenatal detection. Ultrasonographic examination. X-ray.

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Treatment for Neural Tube Defects: Spina Bifida, Meningocele, and Myelomeningocele

There is no cure. Surgical repair

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Prognosis for Neural Tube Defects: Spina Bifida, Meningocele, and Myelomeningocele.

Dependent on the extent of neurological deficit. Best prognosis with Spina Bifida, worst prognosis with Myelomeningocele.

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Prevention of Neural Tube Defects

Administering folic acid to pregnant women.

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Description: Too much cerebrospinal fluid (CSF) in the ventricles of the brain. Ventricles expand beyond the point of obstruction, the cranial sutures separate, the head expands, and the fontanels “soft spots” bulge.

Hydrocephalus

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Etiology: Genetic defect. developmental disorder. May be caused by traumatic head injury, diseases such as meningitis or tumors, or intraventricular or subarachnoid hemorrhages.

Hydrocephalus

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Signs/Symptoms: Head will become enlarged, infants often have high-pitched cries and abnormal muscle tone in their legs. Projectile vomiting, irritable, and very sleepy. older children and adults will have a headache, nausea, vomiting, blurred or double vision, problems with balance, coordination, and walking.

Hydrocephalus

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Diagnostic Procedures for Hydrocephalus

Neurological assessment, Ultrasonography, MRI, CT scan

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Treatment for Hydrocephalus

Surgical correction. Shunt is placed from the affected ventricles of the brain into the peritoneal cavity, or into the right atrium of the heart.

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Prognosis for Hydrocephalus

Cognitive and physical developmental difficulties, vision loss, and impaired motor function.

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Prevention for hydrocephalus

Regular prenatal care, protection from head injuries, up to date immunizations.

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Description: nonprogressive paralysis from developmental defects of the brain, or from trauma during or after birth.

Cerebral Palsy

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Etiology: prior to birth, maternal rubella, maternal diabetes, anoxia, toxemia, preeclampsia. 10% of causes relate to the birth process and include trauma during delivery, prematurity, or asphyxia from umbilical cord becoming wrapped around infants neck. Postnatal causes include head trauma, meningitis, or poisoning.

Cerebral Palsy

What are the three types of Cerebral Palsy?

Spastic, Athetoid, and Ataxic

What type of cerebral palsy has characteristics of Hyperactive reflexes, rapid muscle contraction, muscle weakness, spasticity, underdevelopment of limbs.

Spastic Cerebral Palsy

What type of Cerebral palsy has characteristics of involuntary muscle movements, slow and writhing, impaired muscle tone, dystonia, difficulty with speech.

Athetiod Cerebral Palsy

What type of Cerebral palsy has characteristics of difficulty in balance, depth perception, and coordination. rhythmic, involuntary movement of the eyeball, or nystagmus; muscle weakness and tremor. Sudden movements are almost always impossible.

Ataxic CP

What are the diagnostic procedures for Cerebral Palsy?

Neurological assessment, ultrasound, CT scan, MRI. Observed characteristics are: 1. Inability to suck or keep food in the mouth. 2. difficulty in voluntary movements. 3. difficulty in separating the legs during diaper changes. 4. use of only one hand, or both hands, but no the legs.

Treatment for Cerebral Palsy

CP has no cure. Physical, Speech, and Occupational therapy may be helpful. Some research done with stem cells (intravenously)

Prognosis for Cerebral Palsy

If impairment is mild, a near normal life may be possible. If impairment is severe, lifelong care is necessary.

Prevention for Cerebral Palsy

Early prenatal care and good maternal health are only preventative measures known.

Description: birth defect characterized by a hole in the middle of the roof of the mouth. cleft may extend completely through the hard and soft palates into the nasal area. difficulty in sucking and the infant's facial appearance

Cleft lip and Palate (orofacial clefts)

etilology: Women who smoked before and during pregnancy

Cleft lip and Palate

Diagnostic procedure: formula or milk comes through the nose of the infant

cleft lip and palate

How do you treat cleft lip and palate?

Surgery, speech therapy

Prognosis for cleft lip and palate

good with corrective surgery. Speech therapy may be needed

Prevention of cleft lip and palate

Avoid smoking during pregnancy

Is Tracheoesophageal Fistula and Esophageal Atresia the same, or different?

Different

Description: abnormal connection between the esophagus and the trachea. If liquid is swallowed, it passes into the lungs instead of the stomach. (may cause pneumonia)

Tracheoesophageal Fistula

Often accompanies TEF. The esophagus does not form completely. Food cannot get into the stomach.

Esophageal Atresia

Signs/Symptoms: frothy white bubbles in the mouth, vomiting, coughing or choking when feeding, cyanosis, and difficulty breathing.

Tracheoesophageal Fistula and Esophageal Atresia

Diagnostic procedure for Tracheoesophageal Fistula and Esophageal Atresia

Physical Examination, X-RAY

Treatment for Tracheoesophageal Fistula and Esophageal Atresia

Surgery within a few days of birth

Prognosis for Tracheoesophageal Fistula and Esophageal Atresia

digestive difficulties, gastroesophageal reflux

Prevention for Tracheoesophageal Fistula and Esophageal Atresia

prenatal care

Description: narrowing of the pyloris, the lower opening of the stomach leading into the upper part of the intestine. Causes obstruction of the flow into the small intestine. more common in male than in female infants.

Pyloric Stenosis

Etiology: Cause unknown, but may be hereditary.

Pyloric Stenosis

Signs/Symptoms: Projectile vomiting. Begins the second to fourth week after birth. Vomit ejects a distance of 3 to 4 feet. Can cause dehydration and starvation. Hard, palpable mass (tumor) in the epigastrium, region above the abdomen.

Pyloric Stenosis

Diagnostic procedures for Pyloric Stenosis

History & Physical exam, upper GI x-ray, lab tests (used to detect dehydration and electrolyte imbalances)

Treatment for Pyloric Stenosis

Surgery. Incision and suture of the pyloric sphincter. Procedure called pyloromyotomy. It's simple, safe, and effective.

Prognosis for Pyloric Stenosis

Excellent with proper care and surgical correction

Prevention for Pyloric Stenosis

None

Description: Obstruction or twisting that prevents food from being digested normally.

Malrotation with Volvulus

Etiology: Cause unknown. 70% of infants with this defect have one or more congenital abnormalities of the heart, spleen, or liver.

Malrotation with Volvulus

Signs/Symptoms: Abdominal pain. Infant draws up legs. Vomiting of a digestive fluid known as bile, swollen abdomen, tachycardia, increased heart rate (tachypnea), bloody stools, and dehydration.

Malrotation with Volvulus

Diagnostic procedure for Malrotation with Volvulus

Physical Exam, xray, upper GI, contrast enema

Treatment of Maltrotation with Volvulus

Surgery

Prognosis for Malrotation with Volvulus

No problems following surgical repair

Description: Obstruction and dilation of the colon with feces because the large intestine lacks nerve cells to create adequate intestinal motility. may occur with other congenital abnormalities such as trisomy 21.

Hirschsprung Disease

Etiology for Hirschsprung Disease

unknown, may be hereditary

Signs/Symptoms: Neonate fails to pass first feces, or meconium, within 48 hours of birth. Abdominal distention, feeding difficulties, fever, failure to thrive, watery diarrhea.

Hirschsprung Disease

Treatment for Hirschsprung Disease

Surgery

Prognosis for Hirschsprung Disease

With prompt treatment, good. If left untreated, death is likely from enterocolitis, sever diarrhea, and shock.

Description: failure of the testes to descend into the scrotal sac from the abdomen cavity.

Undescended Testes

Etiology: Inadequate or improper hormone levels in the fetus.

Undescended Testes

Signs/Symptoms: Testis on the affected side is not palpable in the scrotum. Scrotum will appear underdeveloped.

Undescended Testes

Diagnostic Procedure for Undescended Testes

Physical Exam, Ultrasound

Treatment for Undescended Testes

Some descend during the infant's first year of life, but if not, then surgical correction between the ages of 2 and 4.

Prognosis of Undescended Testes

Good with proper attention. testes that have not descended by the time of adolescence will atrophy, causing sterility. Also testicular cancer

Description: Bilateral wasting of skeletal muscles. Strikes during early childhood. Causes death (10-15 years within onset). More males than females. 1 in every 3600 males.

Duchenne Muscular Dystrophy

Etiology: x-linked recessive disorder

Duchenne Muscular Dystrophy

Signs/Symptoms: muscles become weak and are easily damaged. Fatigue and weakness. Characteristic waddling gait, toe-walking, lordosis. (sway back) By age 12, child usually loses the ability to walk.

Duchenne Muscular Dystrophy

Diagnostic procedure for Duchenne Muscular Dystrophy

Family history, muscle biopsy, tests of urine creatinine and serum levels of creatine phosphokinase (CPK)

Treatment for Duchenne Muscular Dystrophy

None known. orthopedic appliance, exercise, physical therapy and surgery may correct or preserve mobility.

Prognosis for Duchenne Muscular Dystrophy

Wheelchair by age 9-12. Within 10-15 years of onset, death commonly results from cardiac or respiratory complications or infections.

Prevention of Duchenne Muscular Dystrophy

Genetic defect. genetic counseling regarding the risks of transmitting the disease.

Description: Life-threatening. Disorder of the exocrine glands. production of abnormally thick mucus in the bronchus and lungs. 1000 new cases are diagnosed each year.

Cystic Fibrosis

Etiology: If both parents are carriers of the gene, offspring have a 25% chance of having the disease. 1 in 4.

Cystic Fibrosis

Signs/Symptoms: Sweat glands, respiratory and GI functions are most commonly affected. increased concentrations of salt in sweat. Respiratory symptoms: Wheezy respirations, dry cough, dyspnea, tachypnea, and frequent lung infections. Accumulation of thick secretions. GI Symptoms: intestinal obstruction, vomiting, constipation, electrolyte imbalance, and inability to absorb fats. Failure to gain weight and height normally.

Cystic Fibrosis

Diagnostic Procedure for Cystic Fibrosis

sweat test, DNA testing, x-rays, pulmonary function tests

Treatment for Cystic Fibrosis

Antibiotic therapy to ward off lung infections. Mucus thinning drugs, Bronchodilators. Chest physical therapy (percussion) to loosen and remove secretions, and oxygen therapy. Gene therapy

Is there complementary therapy for Cystic Fibrosis?

Yes. Omega-3 supplementation helped to decrease lung infection

Prognosis for Cystic Fibrosis

Poor. No cure. Average life expectancy has increased to 38 years or older

Description: Extra copy of chromosome 21. 1 in 800 infants

Down Syndrome

Etiology: Trisomy 21 occurs (extra copy of chromosome 21)

Down Syndrome

Signs/Symptoms: Head can be smaller, inner corner of eyes rounded, flat nose, excessive skin in nape of neck. Tongue may be large and protrude. Ears and mouth are small, hands are short with short fingers. only two creases in palm of the hand instead of three. White spots on iris of eye.

Down Syndrome

Diagnostic Procedure for Down Syndrome

Blood test can confirm the extra chromosome

Treatment for Down Syndrome

no one specific treatment. GI blockage, heart defects, visual or hearing impairment. speech therapy and physical therapy.

Prognosis of Down Syndrome

Heart defects. Increased risk of leukemia

Prevention for Down Syndrome

Maternal age risk. By age 45 goes from 1-1250 to 1-30.

Description: Disorder of the nervous system. Involuntary sounds or tics and movements. Named for Georges Gilles de la Tourette, who first described the disease in 1885.

Tourette Syndrome

Etiology: Autosomal dominant. No specific gene has been identified. May be linked to chemicals in the brain. More likely to occur in boys.

Tourette Syndrome

Signs/Symptoms: Facial tics, arm thrusting, throat clearing, jumping, eye blinking, shoulder shrugging. Use of curse words or inappropriate phrases occur in some individuals.

Tourette Syndrome

Diagnostic Procedure for Tourette Syndrome

Tics prior to age 1, no other brain problem that might cause the symptoms, Tics must occur nearly every day, several times a day, for at least 1 year. Both motor and vocal tics must be present.

Treatment for Tourette Syndrome

Antipsychotic medications lessen symptoms. Clonidine, a blood pressure medication, has been used to reduce the tics

Complimentary Therapy for Tourette Syndrome

Relaxation techniques, belly breathing exercises, quiet-mind computer software games, crossword puzzles, and other high-concentration activities may lessen symptoms.

Prognosis for Tourette Syndrome

Lifelong and chronic, but it is not degenerative.

Congenital Diseases and Disorders Flashcards

(99 cards)