Genetics

Question 1

How is Phenylketonuria (PKU) diagnosed?

Answer 1

• Autosomal recessive disorder (2 carriers)
• Impacts chromosome 12

Question 2

Phenylketonuria (PKU) manifestations?

Answer 2

Intellectual and developmental disabilities, seizures, behavioral concerns

Question 3

Phenylketonuria (PKU) management?

Answer 3

• Phenylalanine-free formula
• Strict diet with low phenylalanine for the rest of their life

Question 4

Trisomy 21 (Down Syndrome) cognitive impairment?

Answer 4

• The risk increases with maternal age
• Most common genetic cause of Cognitive Impairment
  
  • Severity varies (mild-moderate)

Question 5

Trisomy 21 (Down Syndrome) manifestations?

Answer 5

• Upward slant to eyes
• Inner epicanthal folds
• Palmar creases
• Flat nasal bridge
• Protruding tongue
• Excess skin in neck folds (Nuchal translucency US)
• Hyperflexible, hypotonia

Question 6

Trisomy 21 (Down Syndrome) medical comorbidities?

Answer 6

• 45% have heart defects: ASD and VSD
• Altered immune function
  
  • 20 times risk for developing Acute lymphoid leukemia (ALL)
• Hypothyroidism
• Atlantoaxial instability: 15%-20%
  
  • Instability of 1st and 2nd cervical vertebrae
  • Concern w/sports activities

Question 7

What causes Klinefelter?

Answer 7

• 47XXY
• The most common X and Y variation also known as sex chromosome aneuploidy (SCA)
• 1 in 500 males has an extra X chromosome

Question 8

Klinefelter manifestations?

Answer 8

Subtle differences= small testes in adults, wider hips, gynecomastia, longer arms.

Question 9

Klinefelter nursing considerations?

Answer 9

• Learning disabilities, lower IQ

Question 10

Klinefelter management?

Answer 10

• testosterone
• support
• social
• behavior
• educational interventions

Question 11

What causes Turner Syndrome?

Answer 11

• Affects only girls and women
• Turner Syndrome caused by the absence of all or part of the second X chromosome.

Question 12

Turner Syndrome manifestations?

Answer 12

Short stature, webbed neck, and lack of ovarian development

Question 13

Turner Syndrome management?

Answer 13

• synthetic form of human growth hormone (GH)
• hormone replacement during puberty.

Question 14

Fragile X Syndrome manifestations?

Answer 14

• Large head circumference/long narrow face/ large ears/strabismus
• Macroorchidism (Large testes)
• Palate—high-arched
• Mitral valve prolapse
• Hyperextensible fingers
• Flat feet

Question 15

Fragile X Syndrome cognitive impairment?

Answer 15

Range of developmental problems, including learning disabilities and cognitive impairment.

Question 16

Hearing impairment in infancy manifestations?

Answer 16

• Lack of startle reflex
• General indifference to sound
• Lack of response to spoken word
• Absence of babbling by age 7 months

Question 17

Hearing impairment etiology?

Answer 17

• Family history
• Anatomic malformation
• Low birth weight
• Ototoxic drugs
• Chronic ear infections (Acute Otitis Media [AOM])

Question 18

What are the two types of hearing impairments?

Answer 18

• Conductive hearing loss—middle ear
  
  • (e.g., ear wax)
• Sensorineural hearing loss—auditory nerve or inner ear
  
  • Genetic or acquired (e.g., trauma, damage, exposure to continuous noise)

Question 19

Conductive Hearing loss management?

Answer 19

• Medication (antibiotics, antihistamines)
• Hearing aids to amplify sound

Question 20

Sensorineural Hearing Loss management?

Answer 20

• Hearing aids not beneficial
• Cochlear implant may be beneficial