During this rotation I have met patients with DiGeorge Syndrome, Fragile X Syndrome, Prader-Willi Syndrome, Waardenburg Syndrome, and a few others. So I figured that I could make this second Peds blog post more educational and informative by listing some brief and basic points about these genetic conditions. Each of these conditions can be very complex and come in all sorts of variants but for this blog, I will keep it simple. (source: UpToDate, CURRENT 2015, Nelson's Pediatrics)
Gene: 22q11.2 deletion
1. Conotruncal cardiac anomalies (mainly: interrupted aortic arch, truncus arteriosus, tetrology of Fallot, ASDs, VSDs, vascular rings)
2. Hypoplastic thymus (under developed thymus therefore reduced T cell production possibly resulting in immunodeficiency)
3. Hypocalcemia (from parathyroid hypoplasia)
Patients may also present with palatal abnormalities ± cleft palate,
Diagnosis: reduced CD3+ T cells, deletion of 22q11.2, clinical findings as listed above
Fragile X Syndrome
Gene: loss of function/mutation in FMR1 gene (therefore decrease in FMR protein), X-linked disorder
Presentation: Vary largely depending on age and sex.
Males: intellectual deficit, long narrow face with prognathism (prominent chin and forehead), large ears, testicular enlargement after puberty (other presentations may include: doughy dorsum of hands, midface hypoplasia, pale blue eyes, etc.)
Females: possible intellectual deficit, present in a milder form than males
Diagnosis: clinical presentation and genetic testing prenatally due to family history
Gene: absence of paternal 15q11.2-13 gene,
Deletion of father's gene 65-75% of cases, uniparental disomy 20-30% (where mother's gene replaces fathers)
Presentation: males and females equally affected
Infants: hypotonic, failure to thrive, slow at gaining weight
Children and older: hyperphagia, obesity, hypogonadism, decreased cognition, short stature
Diagnosis: clinical presentation and genetic testing which is 99% accurate (according to UpToDate)
Gene: varying genes depending on the type, autosomal dominant, abnormal distribution of melanocytes during embryogenesis causing depigmentation (and therefore no intellectual deficit)
Presentation: Heterochromia irises (usually one pale blue), broad nasal bridge, lateral displacement of inner canthi of eyes, 1/5 manifest congential deafness, no intellectual disability
Diagnosis: clinical findings determine diagnosis, if necessary genetic testing can be performed
*If you are reading these syndromes for the first time, I highly suggest googling some images to help solidify the conditions. In addition, maybe look up some of the terms that are mentioned above. As always, if you have questions, concerns, or corrections please let me know! I always am looking for ways to expand my knowledge*
As mentioned before, this rotation has been a wonderful experience in all sorts of ways. I have seen cases that I may never see again, patients that will be memorable forever, and providers that set the bar high for other rotations. The knowledge that some of these providers have for developmental & behavioral conditions, patient education, and new parental guidance is truly impressive. I was extremely apprehensive about interacting with children and parents, but after working with this practice I feel much better about treating and educating children and families.
A few take home points about a pediatrics rotation:
Kids may not let you examine them twice. Don't take this the wrong way if the preceptor wants to exam the kids just once (especially if they know they will be fussy or challenging). Some preceptors will be okay with examining them twice regardless, but not all will be willing to- and that is perfectly okay and normal.
Be silly. As mentioned in the previous post, this did not come natural to me but after a few days, I got the hang of it. For example, one of my preceptors is fantastic with the kids. He makes airplane noises as he brings his stethoscope to their chest which always gets a giggle. Sometimes he uses the "got potatoes growing in your ears?" line. No matter who the kid, he seems to always make them enjoy their visit, which in my mind, helps make him a great PA.
Vaccinations. Every office has a different "routine" for their vaccines, but in general they all follow the CDC guidelines. Some vaccines comes in bundles like Pentacel (which contains technically 5 vaccines: Dtap (diptheria, tetanus, pertusus), polio (IPV), and Hib).
Childhood Milestones. At first, I walked into the rotation with little knowledge of typical childhood milestones, but by the second week I felt very comfortable with where each infant should be during their well visits. This is something that you can memorize all you want, but I truly believe its easier and more memorable if you learn from experience and practice.
This is just one example of how a rotation experience can be unlike anything you may expect. In didactic you may think that one topic is not your strength but just wait until clinicals to make your final verdict... afterall, you may completely surprise yourself!