Congenital Diseases

Question 1

Sickle Cell Anemia Description

Answer 1

Hereditary, chronic anemia
Sickle or crescent-shaped RBC. Impairs circulation, damage blood vessels, produce organ damage. Most prevalent among those w/ African descent.

Question 2

Sickle Cell Anemia Etiology

Answer 2

Presence of abnormal form of hemoglobin (Hemoglobin S).

Question 3

Sickle Cell trait

Answer 3

One Hemoglobin S gene

Question 4

Sickle Cell Anemia

Answer 4

Two copies of Hemoglobin S genes

Question 5

Sickle Cell Anemia Signs/Symptoms

Acute

Answer 5

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.

Question 6

Sickle Cell Anemia Chronic Sx

Answer 6

Jaundice, chronic fatigue, dyspnea, tachycardia, pallor.

Infections, stress, and extreme temperatures may trigger a crises.

Question 7

Sickle Cell Anemia Chronic Sx

Answer 7

Chronic: Jaundice, chronic fatigue, dyspnea, tachycardia, pallor.
Infections, stress, and extreme temperatures may trigger a crises.

Question 8

Sickle Cell Anemia Chronic Sx

Answer 8

Jaundice, chronic fatigue, dyspnea, tachycardia, pallor.

Infections, stress, and extreme temperatures may trigger a crises.

Question 9

Sickle Cell Anemia Diagnostic Procedures

Answer 9

Infant Screening for at-risk patients. Low hematocrit and sickled cells on blood smear.
Treatment
Symptomatic treatment including analgesics and hydration. Folate replacement.
Blood transfusions, bone marrow transplant.
Prognosis
Variable depending on the degree of severity. Life-threatening disease, with life expectancy into middle age.
Prevention
None.
Symptomatic prevention includes healthy diet, folic acid supplement, proper hydration, avoid extreme temperatures, moderate exercise and adequate rest.

Question 10

Sickle Cell Anemia Treatment

Answer 10

Symptomatic treatment including analgesics and hydration. Folate replacement.
Blood transfusions, bone marrow transplant.
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Question 11

Sickle Cell Anemia Prognosis

Answer 11

Variable depending on the degree of severity. Life-threatening disease, with life expectancy into middle age.
Prevention
None.
Symptomatic prevention includes healthy diet, folic acid supplement, proper hydration, avoid extreme temperatures, moderate exercise and adequate res

Question 12

Sickle Cell Anemia Prevention

Answer 12

None.
Symptomatic prevention includes healthy diet, folic acid supplement, proper hydration, avoid extreme temperatures, moderate exercise and adequate res

Question 13

Neural Tube Defects Description

Answer 13

Include spina bifida, meningocele, myelomeningocele (see p. 117). Develop in the 1st month of pregnancy. Incomplete closure of the bones encasing the spinal cord.

Question 14

Neural Tube Defects Etiology

Answer 14

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.

Question 15

Neural Tube Defects Signs/Sx

Answer 15

Symptoms range from dimple, hair tuft, nevus to foot weakness, bowel/bladder dysfunction, sac-like protrusion, partial paralysis, club foot, Chiari malformation

Question 16

Neural Tube Defects Diagnostic Procedures

Answer 16

Prenatal evaluation through ultrasound between 14-16 weeks. Aminocentesis.
After birth physical exam, x-ray, sensory and motor exam

Question 17

Neural Tube Defects Treatment

Answer 17

No cure. Treatment ranges from none to surgical repair and supportive measures.

Question 18

Neural Tube Defects Prognosis

Answer 18

Dependent on extent of neurological deficit. Spina bifida has the best prognosis

Question 19

Neural Tube Defects Prevention

Answer 19

Folic acid during pregnancy

Question 20

Hydrocephalus Description

Answer 20

Too much cerebrospinal fluid (CSF) in the ventricles of the brain.
Etiology
Genetic defect or developmental disorder associated with the neural tube. Trauma, specific infections
Signs/symptoms
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.

Question 20

Hydrocephalus Description

Answer 20

Too much cerebrospinal fluid (CSF) in the ventricles of the brain.

Question 21

Hydrocephalus Etiology

Answer 21

Genetic defect or developmental disorder associated with the neural tube. Trauma, specific infections
Signs/symptoms
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.

Question 22

Hydrocephalus Signs/Sx

Answer 22

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.

Question 23

Hydrocephalus Diagnostic Procedures

Answer 23

Neurological assessment and physical exam. Ultrasound, MRI, CT
Treatment
Surgical correction. Shunt fluid away from the ventricles to the abdomen.
Prognosis
Guarded. Expect both cognitive and physical developmental difficulties, vision loss, impaired motor function.

Question 24

Hydrocephalus Diagnostic Procedures

Answer 24

Neurological assessment and physical exam. Ultrasound, MRI, CT

Question 25

Hydrocephalus Treatment

Answer 25

Surgical correction. Shunt fluid away from the ventricles to the abdomen.

Question 26

Hydrocephalus Prognosis

Answer 26

Guarded. Expect both cognitive and physical developmental difficulties, vision loss, impaired motor function.

Question 27

Hydrocephalus Prevention

Answer 27

Prenatal care
Avoid head injuries
Update immunizations

Question 28

Cerebral Palsy Description

Answer 28

Permanent, bilateral, symmetrical, nonprogressive paralysis due to developmental defects of the brain or trauma at birth
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.

Question 28

Cerebral Palsy Description

Answer 28

Permanent, bilateral, symmetrical, nonprogressive paralysis due to developmental defects of the brain or trauma at birth

Question 29

Cerebral Palsy Etiology

Answer 29

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.

Question 30

Cerebral Palsy Signs/Sx Spastic:

Answer 30

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.

Question 31

Cerebral Palsy Signs/Sx Spastic:

Answer 31

70%, hyperactive reflexes, raid muscle contraction, muscle weakness, spasticity, underdeveloped limbs.

Question 32

Cerebral Palsy Athetoid:

Answer 32

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.

Question 33

Cerebral Palsy Athetoid:

Answer 33

20% Involuntary muscle movements. Slow, writhing, impaired muscle tone (dystonia). Difficulty speaking

Question 34

Cerebral Palsy Ataxic:

Answer 34

10% Difficulty with balance, depth perception, and coordination. Rhythmic, involuntary movement of the eyeball (nystagmus). Muscle weakness, tremor. Sudden movements nearly impossible.

Question 35

Cerebral Palsy Diagnostic Procedures

Answer 35

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.
Treatment
No cure.
Therapeutic treatment targeted to help overcome functional or intellectual disability. Physical, occupational, speech therapy.
Stem cells.
Prognosis
Varies depending on impairment. Life-long therapy often required.
Prevention
Early prenatal care, good maternal health, proper delivery care.

Question 36

Cerebral Palsy Diagnostic Procedures

Answer 36

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.

Question 37

Cerebral Palsy Treatment

Answer 37

No cure.
Therapeutic treatment targeted to help overcome functional or intellectual disability. Physical, occupational, speech therapy.
Stem cells.
Prognosis
Varies depending on impairment. Life-long therapy often required.
Prevention
Early prenatal care, good maternal health, proper delivery care.

Question 38

Cerebral Palsy Prognosis

Answer 38

Varies depending on impairment. Life-long therapy often required.
Prevention
Early prenatal care, good maternal health, proper delivery care.

Question 39

Cerebral Palsy Prevention

Answer 39

Early prenatal care, good maternal health, proper delivery care.