genetic disorders

conditions which the newborn screening is specifically designed to identify?

core disorders

disorders that are identified unintentionally when screening for one of the core conditions?

secondary

how many conditions are checked in the state of Florida?

57

how many core conditions are checked in the state of Florida?

35

how many secondary conditions are checked in the state of Florida?

22

does newborn metabolic screening always identify conditions?

no (false-negatives, does not include every possible condition)

how would you explain galactosemia to a parent?

the child is missing the liver enzyme needed to convert galactose to glucose

what organs are at risk for damage if galactose builds up in the body due to untreated galactosemia?

eyes, liver, kidney, and brain

what is a child with galactosemia at risk for developing?

gram negative sepsis

how quickly can an infant die with untreated galactosemia?

within a month

an infant presents with poor suck during feedings, failure to thrive due to vomiting and diarrhea, hypoglycemia, and hepatomegaly. what do you suspect?

early galactosemia

infant presents with jaundice, ascites, seizures, and cataracts. what do you suspect?

late galactosemia

what are the two irreversible symptoms of galactosemia?

cirrhosis and intellectual disability

what is the treatment for an infant with galactosemia?

lactose or galactose-free formula

what foods should be avoided in the diet of a child with galactosemia?

milk, cheese, and other dairy products including eggs

what supplementation will a child with galactosemia need?

calcium, vitamin D and K

how would you describe phenylketonuria to a parent?

they lack the ability to break down phenylalanine, which is found in most protein foods

a parents brings their child into the ER stating that the child’s urine has a musty odor, they has persistent rashes, and frequently vomits. they say that their child is significantly smaller than their friends kids around the same age. what do you suspect?

phenylketonuria

what are some long term complications associated with untreated PKU?

seizure disorders, intellectual disability, enamel hypoplasia, prominent maxilla, widely spaced teeth

what is the treatment for PKU?

protein restricted diet, special formula without phenylalanine

what are foods a patient with PKU should avoid?

milk and cheese, eggs, nuts, soybeans, beans, meat, fish, peas, beer

this disease is characterized by the inability to metabolize 3 amino acids -

maple syrup urine disease

what do you suspect when a child presents with sweet smelling urine?

maple syrup disease

in what group is maple syrup disease more common?

old order Mennonites

when will a child start showing signs of maple syrup urine disease?

2-3 days after birth

a child was born 2 days ago. the parent states that the baby is irritable and isn’t feeding well. upon assessment, you notice the infant alternates from rigidity and flaccidity and is having irregular respirations. what do you suspect?

maple syrup urine disease

what is the treatment for maple syrup urine disease?

lifelong limitation of amino acids

what will be tested daily in an infant with maple syrup urine disease?

ketones

what are some signs or symptoms that can be indicative of a genetic disorder?

dysmorphic features, microcephaly, **failure to thrive**, family history

what condition is characterized by a missing or altered X chromosome in females?

turner syndrome

what does turner syndrome commonly cause?

miscarriage and stillbirth

a patient has a short stature, amenorrhea, a webbed neck, and wide spaced nipples - what do you suspect this individual has?

turner syndrome

what disease is characterized by a male with an extra X chromosome?

Klinefelter Syndrome

Klinefelter syndrome is associated with what signs and symptoms?

androgen deficiency, infertility, and tall stature

a patient comes into the office because he has reached the age of 15 and still has not gone through puberty. upon assessment you note that he does not have any facial, pubic, and axillary hair and has small testes. what do you suspect this individual have?

Klinefelter Syndrome

what is a common finding associated with Klinefelter Syndrome?

gynecomastia

what are cognitive issues associated with Klinefelter Syndrome?

learning disabilities, speech, and reading delay

how do you treat Klinefelter Syndrome?

testosterone replacement

what is the most common chromosomal abnormality?

down syndrome

what is a common cardiovascular issues associated with downs syndrome?

VSD (congenital heart disease)

down syndrome affected thyroid metabolism and intestinal absorption. this leads to what manifestations associated with the disease?

obesity, frequent infections, and hypothyroidism (autoimmunity)

what substance do individuals with downs syndrome have a hypersensitivity to? what does this cause?

pilocarpine; abnormal response to EEG tracings

what disease (cancer) do individuals with down syndrome have an increased risk of developing?

leukemia

what is important to monitor in a child with down syndrome?

blood glucose (insulin resistant)

about 5% of down syndrome patients have what kind of complications?

GI - duodenal atresia, **Hirschsprung disease**, celiac disease

a free trisomy 21 results from nondisjunction during meiosis in one of the parents -

full copies

what is full copies trisomy 21 associated with?

advance maternal and paternal age

genetic material from chromosome 21 becomes attached to another chromosome, resulting in 46 chromosomes, with 1 chromosome having extra material from chromosome 21 attached

translocation

name facial features associated with down syndrome -

flat occiput/flattened facial features, small bradycephalic head, epicanthal folds, flat nasal bridge, upward-slanting palpebral fissures, brushfield spots

the speckling of the iris associated with down syndrome is referred to as -

Brushfield spots

what lab studies are important for an individual with down syndrome?

complete blood count (leukemia) and TSH and T3/4 (hypothyroidism)

when should women with down syndrome get pap smears?

every 1-3 years starting when they become sexually active

what confirms a diagnosis of down syndrome?

cytogenetic study

what can be used for rapid diagnosis of down syndrome?

fluorescence in situ hybridization (FISH)

what test can be done during pregnancy to see if a fetus has down syndrome?

nuchal translucency

what does a nuchal translucency measure?

the amount of fluid in the dorsum of the fetal neck

when is a nuchal translucency normally done?

11-14 weeks gestation

what is the best indicator of chromosomal disorders during pregnancy?

amniocentesis

when is amniocentesis normally done?

14-16 weeks gestation

what is associated with increased risk of fetal transverse limb deficiency, small risk of maternal contamination, and a small risk of fetal loss?

chorionic villus sampling (and any other earlier testing)

what is the current treatment for down syndrome?

there is currently no treatment for the intellectual disability associated with the disease

what are two things that must be surgically corrected early in a child with down syndrome?

congenital heart problems and congenital cataracts

an infant with down syndrome may struggle with failure to thrive until?

cardiac surgery

what are medications commonly given to individuals with down syndrome?

thyroid hormone, digitalis, diuretics, and anticonvulsants

what are four important NANDAs for patients with down syndrome?

delayed growth and development, self-care deficit, impaired verbal communication, and risk for infection

what is important information to provide parents of children with down syndrome?

check hearing and vision regularly