Pediatric Genetics & Neuromuscular disorders
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| What is the role of the NP in assessing pediatric patients for genetic disorders | Good work up. Referral. Consultation
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| What does the assessment include? | History (genogram). Negative FHx. Environmental, Occupational exposures. Social Hx (drug use)
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| What are the 3 different types of patterns of inheritance | Autosomal dominant, Autosomal recessive x-linked recessive inheritance
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| 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
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| 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
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| 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
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| Examples of x-linked recessive inheritance | hemophelia, muscular dystrophy
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| Example of autosomal dominant | Familial hypercholesterolemia
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| 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.
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| 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.
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| What immunizations are critical for a patient with sickle cell? | Pneumonia and the flu (pneumoccal) shot
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| 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.
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| 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
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| True False All children get thyroid testing as the normal part of screening. | True
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| When should down syndrome kids have their thryroid repeated | 6 months, 12 months and then annually.
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| 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
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| 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
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| Is it crtical for DS patients to get annual flu shots? | Yes
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| 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)
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| What are some common problems in children with Turner syndrome | no female organ development. short stature,
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| What are common lymphatic problems of children with TS | Swollen hands, swollend feet, because they don't have normal lymphatic drainage.
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| 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.
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| What hormal abnormalities are present in TS children | Abnormal estrogen production and may cause premature menopause. consider estrogen replacement or growth hormones
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| What behavioral problems might TS children face/ | Trouble in school, difficulty in math, testing taking memory.
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| What diagnostics are appropriate for a child with TS | Echo, ultra sound
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| Kleinfelter Syndrome | On the sex identification chromosome there are 2x's and 1 y chromosome.
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| What are the characteristics of Kleinfelter Syndrome | They develop as males. Delayed development of secondary sex characteristics (i.e. facial hair, pubic hair).
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| What are some behavioral problems associated with KS | School problems, obesity
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| Marfan Syndrome | an inherited connective tissue disorder transmitted as an autosomal dominant trait
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| 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.
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| 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
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