Topic 8 Group presentations

Question 1

Sickle cell disease - primary health problem

Answer 1

Severe hemolytic anemia due to defective

hemoglobin - sickled cells are malformed, so they are often prematurely destroyed in the spleen.

Question 2

Sickle cell disease - pattern of inheritance

Answer 2

SCD is a group of inherited red blood cell disorders and is autosomal recessive.

Question 3

Sickle cell disease - screening

Answer 3

Sickledex detects Hemoglobin S and thus screens for the presence of either sickle cell trait or disease (does not distinguish between the two).

Question 4

Sickle cell disease - diagnosis

Answer 4

Hemoglobin electrophoresis test is required for actual diagnosis of sickle cell disease.

Question 5

An individual inheriting two copies of Hb S (Hb SS) is considered to have _

Answer 5

Sickle cell anemia.

Question 6

An individual inheriting one copy of Hb S plus another deleterious β-globin variant (e.g., Hb C or Hb β-thalassemia) is considered to have _

Answer 6

Sickle cell disease.

Question 7

An individual who has one copy of the normal β-globin gene and one copy of the sickle variant (Hb AS) is considered to have _

Answer 7

Sickle cell trait (carrier status).

Question 8

_ helps prevent formation of sickle-shaped red blood cells.

Answer 8

Hydroxyurea.

Question 9

Avoidance of triggers for sickle cell crisis

Answer 9

High altitude, maintain adequate fluid intake, treat infections promptly, obtain immunizations, treat chronic leg ulcers.

Question 10

During genetic counseling, you know your sickle trait carrier parents need more education if they say _ (“My child won’t have sickle cell disease because neither of us have it”; “All of our children will be affected because we are both carriers”; “50% of our children will have sickle cell disease”; All of the above.)

Answer 10

All of the above.

Question 11

What is considered to be the only cure for SCD?

Answer 11

Hematopoietic stem cell transplantation.

Question 12

What are some of the economic barriers SCD patients face?

Answer 12

Stable employment and high health care costs.

Question 13

Essential tremor - manifestations

Answer 13

1. Characterized by shakiness in the hands, head, voice, arms, trunk, and legs.
2. Seen during purposeful movements, whereas Parkinson’s is associated with a shake at rest.

Question 14

Essential tremor - gene implicated

Answer 14

LINGO - involved in regulation of CNS anatomy.

Question 15

Essential tremor - prevention

Answer 15

Avoid caffeine and stimulants, use alcohol in moderation, utilize assistive devices as needed.

Question 16

(True or false) Essential tremor is currently thought to be highly heritable due to high monozygotic twin concordance, but the specific mechanism of inheritance has not been definitively identified.

Answer 16

True.

Question 17

Essential tremor is distinguishable from Parkinson’s disease in that _

Answer 17

Shakiness caused by essential tremor is seen during purposeful movements, but shakiness caused by Parkinson’s is seen at rest.

Question 18

Treatment options for essential tremor include all of the following except _ (Benzodiazepines; alcohol; deep brain stimulation; caffeine.)

Answer 18

Caffeine.

Question 19

Usher syndrome

Answer 19

1. An autosomal recessive genetic condition that involves sensorineural hearing loss and retinitis pigmentosa (vision loss).
2. No known cure; treatment focuses on use of hearing aids, sign language, etc. May involve two distinct periods of grieving due to hearing loss followed by later vision loss.

Question 20

Sensorineural hearing loss

Answer 20

Type of hearing loss which involves a problem in the inner ear, the vestibulocochlear nerve, or the central auditory processing centers of the brain.

Question 21

Retinitis pigmentosa

Answer 21

A degenerative disease of the retina that leads to progressive vision loss and eventual blindness.

Question 22

Usher syndrome is usually diagnosed at _ years of age.

Answer 22

5-10 years.

Question 23

Usher syndrome Type I

Answer 23

Profoundly deaf at birth; severe balance issues; little to no benefit from hearing aids; develop vision problems in early childhood (usually by 10 years of age).

Question 24

Usher syndrome Type II

Answer 24

Moderate to severe hearing loss at birth; normal balance; hearing aids are useful; retinitis pigmentosa onset normally not until adolescence.

Question 25

Usher syndrome Type III

Answer 25

Normal hearing at birth; normal balance; develop hearing loss by adolescence and will need hearing aids by mid- to late-adulthood; slow, but progressive blindness (usually legally blind by mid-adulthood).

Question 26

Which of the following is true regarding the types of Usher syndrome?

Answer 26

Type I is characterized by a profound amount of hearing loss at birth.

Question 27

What is unique about the grieving process for a patient with Usher syndrome and their family?

Answer 27

They may experience two distinct grieving periods for the loss of sight and vision.

Question 28

Why is early diagnosis key for the treatment of Usher syndrome?

Answer 28

To allow children to begin early specialization training for hearing and vision loss.

Question 29

Which statement regarding Fraser syndrome is true?

Answer 29

Consanguinity is associated with an increased incidence of this disorder.

Question 30

You are a nurse in the New Orleans area talking with a couple whose pregnancy has received a prenatal diagnosis of Fraser syndrome based on ultrasound findings. Your interactions with this couple will be based upon which knowledge?

Answer 30

The life expectancy for an affected child is usually less than 1 year; this couple may benefit from information and assistance supplied by NORD.

Question 31

What is the most common physical malformation observed in Fraser syndrome?

Answer 31

Cryptophthalmos.

Question 32

Cerebral palsy - manifestations

Answer 32

Decreased locomotion; musculoskeletal pain; increased fractures; issues with balance; fatigue; problems with communication and minor learning disabilities.

Question 33

Two things that can increase the risk for cerebral palsy

Answer 33

Consanguinity and advanced *paternal* age.

Question 34

Cerebral palsy - diagnosis

Answer 34

Typically diagnosed early in childhood, via: (1) Developmental monitoring; (2) developmental screening; and (3) developmental and medical evaluations.

Question 35

What is the most common cause of cerebral palsy?

Answer 35

Brain injury in utero.

Question 36

At what age range is cerebral palsy typically diagnosed?

Answer 36

1-5 years old.

Question 37

Which of the following actions are most commonly performed in physical therapy for cerebral palsy patients?

Answer 37

Active and passive range of motion exercises.

Question 38

Albinism

Answer 38

1. Lack of *melanin* production causes little or no pigment in the skin, eyes, and hair. Occurs across all races. 2. Protective clothing and creams should be used whenever outside because these individuals are at high risk for *skin cancer*. 3. Abnormal development of the retina and nerve connections between the eye and brain causes vision problems - legally blind and photophobic. "Red" looking eyes are due to the lack of pigment in the iris, causing the blood vessels to be more visible.

Question 39

Oculocutaneous albinism (OCA)

Answer 39

Autosomal recessive; most common type that affects the skin, hair and eyes.

Question 40

Ocular albinism (OA)

Answer 40

X-linked recessive; more rare type that primarily affects the eyes.

Question 41

Hermansky-Pudlak Syndrome (HPS)

Answer 41

1. A type of albinism caused by a mutation in the HPS1 gene. 2. Those with HPS have the same symptoms as other forms of albinism, with the addition of breathing problems and inability to clot blood.

Question 42

Gene therapy and tissue engineering through transplantation of _ is currently being researched as a possible treatment for albinism.

Answer 42

Cultured melanocytes.

Question 43

What type of albinism is the most severe and often causes breathing and blood clotting problems?

Answer 43

Hermansky-Pudlak Syndrome (HPS).

Question 44

What are some ways to help children with albinism?

Answer 44

Sunglasses; sunblock; protective clothing.

Question 45

Which of the following statements is true of albinism?

Answer 45

Persons with albinism are lacking the substance melanin.

Question 46

Trisomy 18 is also known as _

Answer 46

Edwards syndrome.

Question 47

Trisomy 18

Answer 47

1. Can be diagnosed during pregnancy by low levels of AFP, uE3, and hCG; identification of septal defects. 2. Frequently the child is small for gestational age, and 50% have hearing problems.

Question 48

Final confirmation of trisomy 18 occurs through chorionic villus sampling or amniocentesis, followed by _

Answer 48

Karyotyping.

Question 49

The majority of patients affected by trisomy 18 do not inherit the disorder; it is a result of _

Answer 49

Nondisjunction.

Question 50

Genetic carrier testing is available to those with _ to identify balanced translocations and carrier status.

Answer 50

Partial trisomy 18.

Question 51

Treatment for trisomy 18 is palliative, with an objective to achieve some _

Answer 51

Developmental milestones.

Question 52

Which manifestations may be found along with the chromosomal abnormalities associated with trisomy 18? (Small for gestational age; choroid plexus cysts; rocker bottom feet; all of the above.)

Answer 52

All of the above.

Question 53

When the healthcare provider is explaining what follows a diagnosis of trisomy 18, he would include all of the following, *except* _ (Referral to genetic counselor; life expectancy averages 13 years of age; palliative care; surgical options, if any.)

Answer 53

Life expectancy averages 13 years of age.

Question 54

Which of these support resources could a parent of a patient with trisomy 18 visit for links to available clinical trials?

Answer 54

Genetics Home Reference.

Question 55

Which of the following couples is most likely to have a child with beta thalassemia?

Answer 55

A man and a woman who just moved here from Greece.

Question 56

If both parents are carriers for beta thalassemia, what chance do they have of having a child that is completely unaffected?

Answer 56

25%.

Question 57

Which of these statements indicates the parent of a newborn requires *no* further teaching?

Answer 57

"The hospital will automatically test my baby for thalassemia at 24 hours old so I don't have to take my baby to get tested."

Question 58

A 7 year old patient presents with scoliosis, problems walking, impaired breathing, and cognitive impairment. The blood test shows elevated creatine kinase levels. What genetic disorder does this patient suffer from?

Answer 58

Duchenne muscular dystrophy (DMD).

Question 59

Duchenne muscular dystrophy is caused by _ (Absence or lack of dystrophin; mutation in the DMD gene; mutation on the X chromosome; all of the above.)

Answer 59

All of the above.

Question 60

What is the most important goal of nursing care for Duchenne muscular dystrophy (DMD)?

Answer 60

Preserve mobility and independence through exercise, physical therapy, and orthopedic appliances.

Question 61

Regarding Friedreich's ataxia, parents need more education when they state that _

Answer 61

"My first child did not have FA therefore my second child won't."

Question 62

True or false - All patients affected with Friedreich's ataxia will eventually develop diabetes.

Answer 62

False.

Question 63

Patients with Friedreich's ataxia commonly experience which symptoms?

Answer 63

Scoliosis and dysarthria.

Question 64

Charcot-Marie-Tooth can be inherited through which of the following mechanisms? (Autosomal dominant; autosomal recessive; X-linked dominant; all of the above.)

Answer 64

All of the above.

Question 65

Which statement is true about Charcot-Marie-Tooth?

Answer 65

Phenotypic manifestations are due to demyelination of peripheral nerves.

Question 66

Which of the following is *not* a phenotypic manifestation of Charcot-Marie-Tooth?

Answer 66

Cognitive impairment.

Question 67

What is/are the main symptom(s) associated with Sjogren's syndrome?

Answer 67

Dry eyes and dry mouth.

Question 68

How many of the six criteria must be met to confirm a positive diagnosis of Sjogren's syndrome?

Answer 68

Four.

Question 69

Of the following, which statement is true concerning Sjogren's syndrome?

Answer 69

Average onset is in the late 40s and 90% of women diagnosed with the disorder are postmenopausal.

Question 70

Symptoms of multiple sclerosis are caused by _

Answer 70

Progressive damage to the myelin sheath of nerve cells.

Question 71

Which of the following is usually *not* a symptom of multiple sclerosis?

Answer 71

Polyuria.

Question 72

Treatment of multiple sclerosis and its associated symptoms can include _ (Corticosteroids; rehabilitation programs; antidepressants; all of the above.)

Answer 72

All of the above.

Question 73

How is fatal familial insomnia diagnosed? (Various, adult-onset neurologic signs and symptoms; examining cells and tissues of the brain under a microscope; a family history consistent with autosomal dominant inheritance; PRNP disease-causing mutation; all of the above.)

Answer 73

All of the above.

Question 74

What is the method of management for fatal familial insomnia (FFI)?

Answer 74

Promote comfort; promote safety; alleviate symptoms that accompany FFI.

Question 75

Which stage of fatal familial insomnia includes dementia and unresponsiveness?

Answer 75

Stage 4.