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32 Cards in this Set

  • Front
  • Back
What is the treatment goal for genetic disorders?
Early ID, referral, assess., eval., and intervention strategies that include service provision are key to positive long term outcomes
Compensatory techniques
What are some programs for children with special needs?
High Risk infant follow up
Babies can't wait 0-3 no MD referral
Children's Medical Services
What is the nursing care goal for children with genetic disorders?>
promote optimum social, physical, cognitive, adaptive development as individuals within a family and community
What are syndromes associated with genetic abnormalities?
Down Syndrome
Fragile X Syndrome
What are characteristics of children with down syndrome?
slanting eyes with epicanthic skin folds
small low set ears in relation to the face and scalp
flat forehead
single crease in palm
normal life span
lang/motor skill delay
What type of down syndrome is most affected by maternal age?
non dysjunction
What are the characteristics of a child with fragile x?
larger in stature
hyper extensible joints
long face with prominent jaw
Large protruding ears
large testes (macroorchidism)
behavioral abnormalities
Cognitive defects
Struggle with emotion (sensory problems)
What is neurofibromatosis? NF
genetic disorder affecting the development and growth of the nervous system, skin, and neural cell tissues
What is neurofibromatosis 1? NF
most common cancer predisposition
Von Recklinghausen DIsease
Tumors grow on the nerves, skin changes and bone deformities
What are the characteristics of a child with NF?
Larger than normal head circumference (hydrocephalus)
Shorter stature than average
Neurofibromas (benign)
Axillary freckling
Growths on the iris of the eye
Dx made by 6yrs old
Cafe au lait spots (appear in the 1st yr and don't go away)
What is the treatment for NF?
no cure
pain management
AAP recommends yrly physical:
Scoliosis screening
Ophthalmology exam
developmental screening
neurological exam
What are the nursing interventions for the hospitalized child?
reassurance of the child and family
explanation of occurrences to the child
emphasize aspects and procedures that are felt
orient child to the surroundings
provide a safe environment
approach the child by always identifying yourself
encouraging parents to room in
What is the importance of amino acids and proteins?
Amino acids are thier building blocks
AA's are Essential for body metabolism
proteins are needed for energy
What are inborn errors of metabolism?
autosomal recessive
gene mutations in either a childs amino acids, proteins, lipids, or carbs
How are newborns tested for inborn errors?
Gunthrie test
collected by a heel stick after 24hrs of life
What are the types of inborn errors?
Congenital Hypothyroidism
What is Phenylketonuria PKU?
a genetic disorder characterized by an inability of the body to utilize phenylalanine* so it builds up in the body

unable to convert it to tyrosine
How is PKU diagnosed?
both parents must be carriers - Hx
PKU blood spot test
What are the early symptoms of PKU?
stinky urine
hypertonia (rigid)
How can you manage PKU?
nutritional needs:
Limit protein - even moms should if BF
Phenyl-Free milk
Avoid asypertame: diet coke, koolaid
What is galactosemia?
inborn error of metabolism in which the hepatic enzyme galactose 1 phosphate uridine transferase is missing

this means that galactose isn't usable so it inc in the body
What is the genetic predisposition of galactosemia?
autosomal recessive
at least 1 of the 3 enzyme deficiency must be present in both parents
What can cause variations in the Gunthries test?
Timing >24hrs
Blood transfusion
TPN administration
What is the physical assessment in galactosemia?
normal until first feed
emesis post feeding
jaundice: (build up of galactose)
AA and proteins in urine
speech and learning disabilities
What is the diagnostic testing for galactosemia?
blood glucose levels
urine AA, orgainic acids, and UA
Newborn screening in some states
What is the acute care of galactosemia?
identification of the disease
nutritional management
family support
What are the nutritional needs for galactosemia?
removal of all galactose foods from diet (even moms)
soy based formula (Isomil)
Older children should avoid legumes, organ meat, and processed meats
What is congenital hypothyroidism?
not enough thyroid hormones produced
caused by iodine insufficiency
What is the physical assessment of congenital hypothyroidism?
puffy appearing face
dull look
thick and protruding tounge

hoarse cry
brittle hair and nails
poor feeding - choking
What is the diagnostic testing for congenital hypothyroidism?
thyroid panel
thyroid scan
xray of long bones (brittle)
What is the nursing care for congenital hypothyroidism?
Thyroxine, Synthroid (replacement)
Normal diets
Frequent MD visits, labs, and continued meds
What occurs if congenital hypothyroidism isn't diagnosed early?
growth retardation
heart problems