| Question | Answer |
| What is the role of the NP in assessing pediatric patients for genetic disorders | Good work up. Referral. Consultation |
| What does the assessment include? | History (genogram). Negative FHx. Environmental, Occupational exposures. Social Hx (drug use) |
| What are the 3 different types of patterns of inheritance | Autosomal dominant, Autosomal recessive x-linked recessive inheritance |
| Autosomal dominant | Each affected individual has one affected parent. Males and females are equally effected. Pattern of inheritance is vertical. Abnormalities don't involve sex chromosome |
| Autosomal recessive | Each parent must be a carrier of the recessive gene. Do not need a parent who is affected. Males and females are equally effected. Pattern of inheritance is horizontal |
| X-linked recessive inheritance | Affected gene is located on the x-chromosome of females, although female is clinically normal. Disorders typically seen more in males than in females. Passed down from mother to son |
| Examples of x-linked recessive inheritance | hemophelia, muscular dystrophy |
| Example of autosomal dominant | Familial hypercholesterolemia |
| Sickel cell | Results when a substition of valine for glutamic acid at position 6 of the beta globin polhpeptide chain occurs. Produces Hgb S. Sickle hemoblogin forms polymers when deoxygenated which results in sickling shape of the cell. |
| Sickle Cell Management | Prophylactic antibiotics starting as early as 2 months of age. Penicillin 125 mg PO BID (erythromycin if PCN allergy). At 3 years swtich to Penicillin 250 mg PO BID continue at least until 5 years old. |
| What immunizations are critical for a patient with sickle cell? | Pneumonia and the flu (pneumoccal) shot |
| Why is it a priority for SS patients to get immunizations | This is a priority because the infectios disease process could trigger a sickle cell crisis. |
| What's important to check for in down syndrome patients | Physical abnormalities: TM, are their ear canals patent. Skeletal deformitis. Strabismus. Nystagmus. Congential cataracts. Obesity |
| True False All children get thyroid testing as the normal part of screening. | True |
| When should down syndrome kids have their thryroid repeated | 6 months, 12 months and then annually. |
| What are some common complications in kids with down syndrome | Cardiac anamolies Refer to cardiologist for cardiac baseline assessment. Severe cardiac anomalies should be picked up in utero |
| True or False Down syndrome kids follow the same growth chart as normal kids | False. There is a separate growth chart for kids with down syndrome |
| Is it crtical for DS patients to get annual flu shots? | Yes |
| Tuner syndrome | Compelte or patial absence of the sex chromosome. Affects only females. Has just a single x chromosome. the father's sperm is missing a sex chromosome (either x or y) |
| What are some common problems in children with Turner syndrome | no female organ development. short stature, |
| What are common lymphatic problems of children with TS | Swollen hands, swollend feet, because they don't have normal lymphatic drainage. |
| What systemic problems can TS children have | Kidney, eye, hearing, orthopedic. Low set ears. Poor growth or abnormal development of ovaries. Delayed or absent sexual characteristics. Obesity leads to DM. |
| What hormal abnormalities are present in TS children | Abnormal estrogen production and may cause premature menopause. consider estrogen replacement or growth hormones |
| What behavioral problems might TS children face/ | Trouble in school, difficulty in math, testing taking memory. |
| What diagnostics are appropriate for a child with TS | Echo, ultra sound |
| Kleinfelter Syndrome | On the sex identification chromosome there are 2x's and 1 y chromosome. |
| What are the characteristics of Kleinfelter Syndrome | They develop as males. Delayed development of secondary sex characteristics (i.e. facial hair, pubic hair). |
| What are some behavioral problems associated with KS | School problems, obesity |
| Marfan Syndrome | an inherited connective tissue disorder transmitted as an autosomal dominant trait |
| autosomal dominant disorder | If one parent has an abnormal gene and the other parent a normal gene, there is a 50% chance each child will inherit the abnormal gene, and therefore the dominant trait. |
| autosomal recessive disorder | When both parents are carriers of an autosomal recessive trait, there is a 25% chance of a child inheriting abnormal genes from both parents, and therefore of developing the disease. There is a 50% chance of each child inheriting one abnormal gene (being |
