Genetic disorders

What are some common prenatal risk factors for genetic disorders?

• maternal age >35 or parental age >50

• exposure to meds/teratogens

What are some findings of genetic disorders in babies before + during delivery?

• premature or breech delivery

• abnormal prenatal blood screening tests

• decreased fetal movement

• amniotic fluid abnormalities

• congenital hip dysplasia

Clinical manifestations of trisomy 21

short stature, small head, low-set ears, congenital heart defects, hypotonia, intellectual disability, + hearing/vision impairments

When is trisomy 21 typically detected?

prenatally or at birth

What are some forms of early intervention for kids with T21?

speech therapy, OT, PT

What might be a concern associated with hypotonia at birth?

poor feeding

Behavioral trends with T21 kids

less engaged/more reserved with peers

What are some common associated disorders with T21?

AV canal defect, hypothyroidism, vision/hearing issues, immune disorders, etc.

When should kids with T21 start seeing an opthalmologist?

by 6mo

How often should kids with T21 get thyroid testing?

at birth, then every year

What are some common immune disorders found in T21 kids?

upper resp. infections, otitis media, ALL

How does fragile x syndrome happen?

x-linked genetic disorder, typically more severe in boys

Symptoms of fragile x syndrome

intellectual disability

• developmental/cognitive delays

• speech delay

• behavioral issues

physical features

• long face

• post-pubertal macroorchidism

• prominent ears, chin, + forehead

How is fragile x syndrome managed?

meds (stimulants/antidepressants), speech/PT/OT, etc. based on associated diagnoses of autism, ADHD, etc.

How does turner syndrome happen?

absence (partial or complete) of second x chromosome in girls

Manifestations of turner syndrome

• cardiac, kidney, + liver defect

• wide neck + low-set ears

• hearing problems

• infertility

Nursing management for turner syndrome

• hormone therapy to start puberty

• speech/PT/OT

Phenylketonuria (PKU)

metabolism error causing a liver enzyme deficiency, which doesn’t allow the body to digest foods with phenylalanine

When is PKU screened for?

between 24-48hrs after birth AND after baby has eaten!

What is the only treatment for PKU?

low-phenyl diet for life (inc. veggies, fruits, and some grains)

Which foods should be avoided on a low-phenyl diet?

dairy, eggs, meat, nuts, and beans

How is an infant treated for PKU?

mom eats a low-phenyl diet (if breastfeeding) or specialized formula

Symptoms of PKU if untreated?

irritability, vomiting, musty smell, increased reflexes, seizures, and eventually neuro/developmental issues