Familial component of epilepsy in cleft lip and palate

It is well recognized that offspring of women with epilepsy who are taking anticonvulsant medications have an increased incidence of clefting abnormalities. This increase has been attributed to the teratogenic effects of anticonvulsant medications but an alternative explanation involving a genetic association of epilepsy and clefting has also been proposed. Five family studies attempting to resolve this controversy have been inconclusive either because of study design or analytic limitations. This family study was designed to determine whether epilepsy aggregates in families ascertained by an individual with a clefting disorder. The Mayo Clinic medical linkage registry was used to identify individuals with cleft lip with or without cleft palate and cleft palate in southeast Minnesota from 1935-1986. Only those cases who were 15 years or younger during this period were included in the study. The proband's parents and descendants of their parents, including the proband's sibs, children, grandchildren, niece/nephews, grandnieces/nephews, halfsibs and spouses were also identified and all of their medical records were reviewed for seizure disorders. The standardized morbidity ratios for epilepsy of 0.9 (95% CI 0.2-2.6) observed for first degree relatives (excluding parents) and 0.0 for second degree relatives were not increased. The SMRs ranged from 0.7-2.2 for the individual relative types (parents 1.5, sibs 0.7, children 2.2, probands 1.1, spouses 2.0) and were also not increased. These results do not support the suggestions of some that clefting and epilepsy aggregate together in families. ^

Attitudes About Predictive MEN1 Genetic Testing in Minors

Multiple Endocrine Neoplasia type 1 (MEN1) is a hereditary cancer syndrome characterized by tumors of the endocrine system. Tumors most commonly develop in the parathyroid glands, pituitary gland, and the gastro-entero pancreatic tract. MEN1 is a highly penetrant condition and age of onset is variable. Most patients are diagnosed in early adulthood; however, rare cases of MEN1 present in early childhood. Expert consensus opinion is that predictive genetic testing should be offered at age 5 years, however there are no evidence-based studies that clearly establish that predictive genetic testing at this age would be beneficial since most symptoms do not present until later in life. This study was designed to explore attitudes about the most appropriate age for predictive genetic testing from individuals at risk of having a child with MEN1. Participants who had an MEN1 mutation were invited to complete a survey and were asked to invite their spouses to participate as well. The survey included several validated measures designed to assess participants’ attitudes about predictive testing in minors. Fifty-eight affected participants and twenty-two spouses/partners completed the survey. Most participants felt that MEN1 genetic testing was appropriate in healthy minors. Younger age and increased knowledge of MEN1 genetics and inheritance predicted genetic testing at a younger age. Additionally, participants who saw more positive than negative general outcomes from genetic testing were more likely to favor genetic testing at younger ages. Overall, participants felt genetic testing should be offered at a younger age than most adult onset conditions and most felt the appropriate time for testing was when a child could understand and participate in the testing process. Psychological concerns seemed to be the primary focus of participants who favored later ages for genetic testing, while medical benefits were more commonly cited for younger age. This exploratory study has implications for counseling patients whose children are at risk of developing MEN1 and illustrates issues that are important to patients and their spouses when considering testing in children.

Harris County Medical Society, Woman's Auxiliary Year Book 1926-1927

Partnering with the Texas Medical Association Alliance "to improve the health of all Texans," the Harris County Medical Society (HCMS) Alliance was organized in 1919 as the HCMS Woman’s Auxiliary. Current membership consists of the spouses of physicians, as well as physicians, in Harris County. http://hcmsa.org/ accessed 11/20/2012 This booklet lists the members of the Auxiliary, officers, programs for September, 1926 – May, 1927, and the organization’s constitution and by-laws. Booklet is 7 1/8 x 4 ½ inches and contains 18 pages.

Knowledge and Expectations of Support People in Prenatal Genetic Counseling Sessions

Prenatal genetic counseling patients have the ability to choose from a myriad of screening and diagnostic testing options, each with intricacies and caveats regarding accuracy and timing. Decisions regarding such testing can be difficult and are often made on the same day that testing is performed. Therefore, it is reasonable to consider that the support people brought to an appointment may have a role in the decision-making process. We aimed to better define this potential role by examining the incoming knowledge and expectations of support people who attended prenatal genetic counseling appointments. Support people were asked to complete a survey at one of seven Houston area prenatal clinics. The survey included questions regarding demographics, relationship to patient, incoming knowledge of the appointment, expectations of decision-making and perceived levels of influence over the decisions that would be made during the counseling session. The majority (79.4%) of the 252 participants were spouses/partners. Overall, there was poor knowledge of the referral indications with only 33.5% of participants correctly identifying the patient’s indication. Participants had even poorer knowledge of testing options that would be offered during the session, as only 17.7% were able to correctly identify testing options that would be discussed during the genetic counseling session. Of participants, just 3.6% said that they did not want to be included in discussions about screening/testing options. Only a few participants thought that they had less influence over decisions related to the pregnancy than over non-pregnancy decisions. Participants who reported feeling like they had a higher level of influence were likely to attend more of the pregnancy-related appointments with the patient. Findings from this study have provided insight into the perspective of support persons and have identified gaps in knowledge that may exist between the patients and the people they choose to bring with them into the genetic counseling session. In addition, this study is a starting point to assess how much the support people think that they impact the decision-making process of prenatal genetic counseling patients versus how much the prenatal patients value the input of the support people.