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Med Surg 1 > MIDTERMS: Syndromes / Genetic Disorders > Flashcards

MIDTERMS: Syndromes / Genetic Disorders Flashcards

1
Q

True or False: Down Syndrome is also known as Trisomy 21.

A

true

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2
Q

True or False: Increasing maternal age is not considered a risk factor for Down Syndrome.

A

FALSE.

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3
Q

True or False: One of the clinical manifestations of Down Syndrome includes atlanto-axial instability.

A

True

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4
Q

True or False: Down Syndrome patients often develop early-onset Alzheimer’s disease.

A

TRUE

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4
Q

Fill in the blank: Down Syndrome is caused by an extra chromosome on chromosome number ____.

A

21

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4
Q

The hypothesis that suggests trisomy 21 causes a genetic imbalance leading to abnormal gene expression is called the ___________ Hypothesis.

A

Amplified Development Instability

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5
Q

Patients with Down Syndrome are at a higher risk for ____________ disease, a condition where nerves that innervate the GI tract are not developed.

A

Hirschsprung

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5
Q

The risk of Down Syndrome increases with ____________ age.

A

Maternal

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5
Q

_____________ is a common hematological abnormality seen in newborns with Down Syndrome.

A

Thrombocytopenia

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6
Q

What is Mosaicism in the context of Down Syndrome?

A

Mosaicism is when a percentage of the body has trisomy 21, and the rest of the cells have a normal chromosome count.

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6
Q

True or False: Mosaicism refers to the presence of trisomy 21 in all the cells of the body.

A

False (It refers to only a percentage of the body having trisomy 21)

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7
Q

What hypothesis explains that the critical region of chromosome 21 attaches to another chromosome in Down Syndrome?

A

Critical Region Hypothesis.

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7
Q

What are some common clinical manifestations of Down Syndrome?

A

Intellectual and developmental disabilities
Atlanto-axial instability
Hypotonia
Facial dysmorphology
Early-onset Alzheimer’s disease
Visual abnormalities
Congenital heart anomalies
Gastrointestinal abnormalities like Hirschsprung disease
Hematological abnormalities

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8
Q

What percentage of patients with Down Syndrome and congenital heart disease survive for 1 year?

A

78%.

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9
Q

True or False: Prader-Willi Syndrome is caused by the loss of maternal gene expression on chromosome 15.

A

False (It’s caused by the loss of paternal gene expression)

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9
Q

True or False: Angelman Syndrome is characterized by inappropriate laughter and fascination with water.

A

True

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9
Q

T or F
Cri-du-Chat Syndrome is more common in males than females.

A

False (It occurs more often in females)

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10
Q

T or F
Moebius Syndrome is characterized by paralysis of multiple cranial nerves, particularly affecting eye movements and facial muscles.

A

True

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11
Q

True or False: The majority of cases of Global Development Delay (GDD) are found in low- and middle-income countries.

A

True

11
Q

Prader-Willi Syndrome is characterized by insatiable hunger, growth hormone deficiency, and ____________.

A

Severe hypotonia

11
Q

Angelman Syndrome results from the loss of expression of the ____________ gene from the maternal chromosome.

A

UBE3A

12
Q

Global Development Delay is diagnosed when there is a significant delay in at least ____________ areas of development.

A

2

12
Q

In Moebius Syndrome, paralysis of ____________ causes difficulties in eye movements and visual deficits.

A

Cranial nerves III, IV, and VI

13
Q

The hallmark symptom of Cri-du-Chat Syndrome is the ____________, which gives the syndrome its name.

A

Cat-like cry

13
Q

What is the genetic cause of Prader-Willi Syndrome?

A

Prader-Willi Syndrome is caused by the loss of gene expression of the paternal-inherited gene on chromosome 15q, with both copies of chromosome 15q inherited from the mother.

14
Q

What are the primary cranial nerves affected in Moebius Syndrome, and what are the associated symptoms?

A

Moebius Syndrome primarily affects cranial nerves III, IV, VI, VII, VIII, IX, XI, and XII. Symptoms include visual deficits, feeding difficulties, hearing impairment, speech delays, and swallowing problems.

14
Q

Describe some clinical manifestations of Angelman Syndrome.

A

Clinical manifestations of Angelman Syndrome include inappropriate and excessive laughter, ataxia, psychomotor delay, seizures, speech deficits, and characteristic facial features such as a wide mouth and strabismus.

15
Q

What causes Cri-du-Chat Syndrome, and what are the key features of this condition?

A

Cri-du-Chat Syndrome is caused by a partial or complete deletion of chromosome 5p. Key features include a high-pitched, cat-like cry, microcephaly, facial dysmorphology, intellectual disabilities, and congenital heart defects.

15
Q

What is the prognosis for individuals with Global Development Delay (GDD)?

A

The prognosis for GDD varies. Some cases resolve spontaneously with a generally good outcome, but GDD can also be a risk factor for the development of neurodevelopmental disorders, particularly in low-resource settings.

16
Q

What is the most common endocrine dysfunction seen in Prader-Willi Syndrome?

A. Hyperthyroidism
B. Type II Diabetes Mellitus
C. Addison’s Disease
D. Hyperparathyroidism

A

B. Type II Diabetes Mellitus

16
Q

What is the most likely diagnosis for a child with constant hunger, growth hormone deficiency, hypotonia, and a genetic abnormality on chromosome 15?

A

Prader-Willi Syndrome.

17
Q

What is the estimated prevalence of Moebius Syndrome?

A. 1 in 10,000 live births
B. 1 in 50,000 live births
C. 1 in 100,000 live births
D. 1 in 250,000 live births

A

D. 1 in 250,000 live births

18
Q

A 3-year-old child presents with severe hypotonia, insatiable hunger, and global developmental delay. Genetic testing reveals an abnormality on chromosome 15. Based on the clinical presentation and genetic findings, what syndrome is most likely, and what would the appropriate interventions include?

A

The child likely has Prader-Willi Syndrome. Appropriate interventions would include nutritional management to control excessive eating, growth hormone therapy for growth and muscle development, and early intervention services like physical therapy, occupational therapy, and speech therapy to address developmental delays.

18
Q

Which of the following is NOT a characteristic clinical manifestation of Angelman Syndrome?

A. Happy demeanor with inappropriate laughter
B. Severe hypotonia and feeding difficulties
C. Ataxia and tremulous limb movements
D. Fascination with water

A

B. Severe hypotonia and feeding difficulties
(This is a characteristic of Prader-Willi Syndrome, not Angelman Syndrome)

18
Q

What are the key features of Prader-Willi Syndrome that a physical therapist should address?

A

Hypotonia, global developmental delays, feeding issues, and obesity prevention.

19
Q

What diagnosis is suggested by a child with severe speech delay, ataxia, inappropriate laughter, and genetic deletion on the maternal chromosome 15?

A

Angelman Syndrome.

19
Q

lobal Developmental Delay is diagnosed when a child has significant delay in at least two of the following domains, EXCEPT:

A. Gross and fine motor skills
B. Speech and language development
C. Social and emotional development
D. Physical height and weight

A

D. Physical height and weight

20
Q

How are sleep disturbances and seizures typically managed in Angelman Syndrome?

A

Medications for seizure control and behavioral strategies or medications for sleep disturbances.

20
Q

Which chromosome is affected in Cri-du-Chat Syndrome?

A. Chromosome 15
B. Chromosome 5
C. Chromosome 21
D. Chromosome X
Answer: B. Chromosome 5

A

B. Chromosome 5

20
Q

A child with a wide mouth, excessive laughter, and ataxia is brought in for evaluation. The parents report that the child has a fascination with water. What syndrome do you suspect, and what are some key aspects of managing this condition?

A

The child likely has Angelman Syndrome. Management focuses on physical therapy to improve motor skills, speech therapy for communication difficulties, management of seizures with anticonvulsants, and behavioral therapies to address hyperactivity and sleep disturbances.

21
Q
A
21
Q

What diagnosis should be considered in an infant with a cat-like cry, microcephaly, and a deletion on chromosome 5p?

A

Cri-du-Chat Syndrome.

21
Q
A
21
Q

What is the likely diagnosis in a child with facial paralysis and difficulty swallowing, with involvement of cranial nerves?

A

Moebius Syndrome.

22
Q

What diagnosis is suggested by delayed gross and fine motor skills, speech, and cognitive development in a 2-year-old child?

A

Global Developmental Delay (GDD).

Med Surg 1 (15 decks)

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