Maternal Child & Children Assignment:
• label the answer to the question number or letter.
• indicate the question you pick. Cite at least 4 references no older than (2020) or 3 years relevant to the discussion topic/questions. APA 7. For all assignments: All assignments must be written in an academic tone. You are not to write in the first person. Instead, you need to use the third person. Large word-for-word quotes are not permitted. Direct quotes, if used, need to be only a sentence or two long. Instead, most cited material needs to be paraphrased. References should consist of scholarly journals. Web sources can be used, though they should come from credible sources such as government agencies, academics, and private agencies with a strong reputation within the community they serve. You will not be allowed to use web pages or web groups such as Wikipedia or Answers.com, as the information contained in these web pages is academically questionable. You cannot use web pages with a questionable background or academic source. Furthermore, you will not be permitted to cite encyclopedias, dictionaries, newspapers, or magazines. It is important to remember evidence-based.
Review vocabulary of dysmorphology
There is an acronym “Family GENES” that is designed to help make a decision to do further evaluation or not.
F-Family history is pretty obvious.
G-Groups of anomalies (3 or more)
E-Extreme presentation (eg: early onset or abnormally severe)
N-Neurologic abnormalities (includes delays or degeneration)
E-Exceptional pathology (rare findings)
S-Surprising lab values (hypocalcemia, severe anemia, abnormal chromosomes etc.)
Dysmorphology is a search for recognizable patterns. It is useful if it gives us information that can guide further evaluation or management, or if a specific diagnosis is found that eliminates the need for additional studies. Some families take comfort in knowing the answer. Others do not but may benefit if they or their child receive better care because the caretakers know what they are dealing with.
It is important to pay attention to the way we talk about dysmorphology. Genetic disease is different from other health problems because it is part of who we are not something that happened to us. So while it is not always possible to know the technical terms it is important to describe specific features using terms that will not be offensive. So terms like FLK or toaster head (description of dolicocephaly – literally “long head” – often used in some newborn intensive care units) are generally avoided. While terms like hypertelorism or widely spaced eyes are both acceptable.
Assignment Questions:
1. The mother of a child who was just diagnosed with type 1 diabetes turns to the child’s father and says “This is all your fault. Your father has type 2 diabetes”. Is she correct in her assumption that the child inherited diabetes from his father’s family? Explain your response.
2. John is a 16-year-old who loves to play soccer. His 18-year-old brother, Andre, passed out while playing basketball and has now been diagnosed with long QT syndrome (LQT1). The cardiologist involved suggests that all Andre’s siblings should have a cardiac examination, including an electrocardiogram (ECG), before they play sports. John’s ECG shows a borderline QT prolongation during activity, so the cardiologist recommends genetic testing. John tests positive for the same mutation in the gene KCNQ1 (LQT1) that Andre has, and he is told that he must stop playing soccer. He is counseled to take up a less intense sport, like golf. John is clearly upset and wants to know why this is happening to him. He feels just fine and does not understand why he cannot play his favorite sport
a. What is the connection between sports restrictions and long QT syndrome?
b. How can understanding genetics help to predict who might be affected by long QT syndrome if someone in the family is already affected?
c. How and with what terms will you explain to John why these modifications in exercise are necessary?
