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Pediatric Genetics

Pediatric Genetics & Neuromuscular disorders

QuestionAnswer
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
Created by: lknightly