How is Phenylketonuria (PKU) diagnosed?
- Autosomal recessive disorder (2 carriers)
- Impacts chromosome 12
Phenylketonuria (PKU) manifestations?
Intellectual and developmental disabilities, seizures, behavioral concerns
Phenylketonuria (PKU) management?
- Phenylalanine-free formula
- Strict diet with low phenylalanine for the rest of their life
Trisomy 21 (Down Syndrome) cognitive impairment?
- The risk increases with maternal age
- Most common genetic cause of Cognitive Impairment
- Severity varies (mild-moderate)
Trisomy 21 (Down Syndrome) manifestations?
- Upward slant to eyes
- Inner epicanthal folds
- Palmar creases
- Flat nasal bridge
- Protruding tongue
- Excess skin in neck folds (Nuchal translucency US)
- Hyperflexible, hypotonia
Trisomy 21 (Down Syndrome) medical comorbidities?
- 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
What causes Klinefelter?
- 47XXY
- The most common X and Y variation also known as sex chromosome aneuploidy (SCA)
- 1 in 500 males has an extra X chromosome
Klinefelter manifestations?
Subtle differences= small testes in adults, wider hips, gynecomastia, longer arms.
Klinefelter nursing considerations?
- Learning disabilities, lower IQ
Klinefelter management?
- testosterone
- support
- social
- behavior
- educational interventions
What causes Turner Syndrome?
- Affects only girls and women
- Turner Syndrome caused by the absence of all or part of the second X chromosome.
Turner Syndrome manifestations?
Short stature, webbed neck, and lack of ovarian development
Turner Syndrome management?
- synthetic form of human growth hormone (GH)
- hormone replacement during puberty.
Fragile X Syndrome manifestations?
- Large head circumference/long narrow face/ large ears/strabismus
- Macroorchidism (Large testes)
- Palate—high-arched
- Mitral valve prolapse
- Hyperextensible fingers
- Flat feet
Fragile X Syndrome cognitive impairment?
Range of developmental problems, including learning disabilities and cognitive impairment.
Hearing impairment in infancy manifestations?
- Lack of startle reflex
- General indifference to sound
- Lack of response to spoken word
- Absence of babbling by age 7 months
Hearing impairment etiology?
- Family history
- Anatomic malformation
- Low birth weight
- Ototoxic drugs
- Chronic ear infections (Acute Otitis Media [AOM])
What are the two types of hearing impairments?
- 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)
Conductive Hearing loss management?
- Medication (antibiotics, antihistamines)
- Hearing aids to amplify sound
Sensorineural Hearing Loss management?
- Hearing aids not beneficial
- Cochlear implant may be beneficial
