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32 Cards in this Set
- Front
- Back
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What is the treatment goal for genetic disorders?
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Early ID, referral, assess., eval., and intervention strategies that include service provision are key to positive long term outcomes
Education Compensatory techniques |
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What are some programs for children with special needs?
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High Risk infant follow up
Babies can't wait 0-3 no MD referral Children's Medical Services |
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What is the nursing care goal for children with genetic disorders?>
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promote optimum social, physical, cognitive, adaptive development as individuals within a family and community
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What are syndromes associated with genetic abnormalities?
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Down Syndrome
Fragile X Syndrome Neurofibromatosis |
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What are characteristics of children with down syndrome?
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seizures
dementia 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 |
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What type of down syndrome is most affected by maternal age?
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non dysjunction
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What are the characteristics of a child with fragile x?
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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) |
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What is neurofibromatosis? NF
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genetic disorder affecting the development and growth of the nervous system, skin, and neural cell tissues
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What is neurofibromatosis 1? NF
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most common cancer predisposition
Von Recklinghausen DIsease Tumors grow on the nerves, skin changes and bone deformities |
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What are the characteristics of a child with NF?
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Larger than normal head circumference (hydrocephalus)
Shorter stature than average Neurofibromas (benign) Axillary freckling Scoliosis 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) |
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What is the treatment for NF?
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no cure
pain management AAP recommends yrly physical: BP Scoliosis screening Ophthalmology exam developmental screening neurological exam |
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What are the nursing interventions for the hospitalized child?
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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 |
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What is the importance of amino acids and proteins?
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Amino acids are thier building blocks
AA's are Essential for body metabolism proteins are needed for energy |
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What are inborn errors of metabolism?
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autosomal recessive
gene mutations in either a childs amino acids, proteins, lipids, or carbs |
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How are newborns tested for inborn errors?
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Gunthrie test
collected by a heel stick after 24hrs of life |
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What are the types of inborn errors?
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PKU
Galactosemia Congenital Hypothyroidism |
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What is Phenylketonuria PKU?
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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 |
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How is PKU diagnosed?
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both parents must be carriers - Hx
Labs PKU blood spot test |
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What are the early symptoms of PKU?
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vomiting
irritable eczema stinky urine hyperreflexia hypertonia (rigid) seizure |
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How can you manage PKU?
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nutritional needs:
Limit protein - even moms should if BF Phenyl-Free milk Avoid asypertame: diet coke, koolaid |
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What is galactosemia?
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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 |
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What is the genetic predisposition of galactosemia?
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autosomal recessive
at least 1 of the 3 enzyme deficiency must be present in both parents |
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What can cause variations in the Gunthries test?
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Diet
Timing >24hrs Prematurity Blood transfusion TPN administration |
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What is the physical assessment in galactosemia?
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normal until first feed
emesis post feeding jaundice: (build up of galactose) hypoglycemia hematomegaly cataracts AA and proteins in urine speech and learning disabilities |
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What is the diagnostic testing for galactosemia?
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blood glucose levels
urine AA, orgainic acids, and UA Newborn screening in some states |
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What is the acute care of galactosemia?
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identification of the disease
nutritional management family support |
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What are the nutritional needs for galactosemia?
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removal of all galactose foods from diet (even moms)
soy based formula (Isomil) Older children should avoid legumes, organ meat, and processed meats |
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What is congenital hypothyroidism?
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not enough thyroid hormones produced
caused by iodine insufficiency |
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What is the physical assessment of congenital hypothyroidism?
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InitialL
puffy appearing face dull look thick and protruding tounge Others lethargic hoarse cry brittle hair and nails poor feeding - choking |
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What is the diagnostic testing for congenital hypothyroidism?
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thyroid panel
thyroid scan xray of long bones (brittle) |
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What is the nursing care for congenital hypothyroidism?
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Thyroxine, Synthroid (replacement)
Normal diets Frequent MD visits, labs, and continued meds |
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What occurs if congenital hypothyroidism isn't diagnosed early?
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MR
growth retardation heart problems |
