Search

Background: 3q29 deletion syndrome is associated with a range of medical, neurodevelopmental, and psychiatric phenotypes. The deletion is usually de novo but cases have been reported where the deletion is inherited from apparently unaffected parents. The presence of these unaffected or mildly affected individuals suggests there may be an ascertainment bias for severely affected cases of 3q29 deletion syndrome, thus the more deleterious consequence of the 3q29 deletion may be overestimated. However, a substantial fraction of 3q29 deletion syndrome morbidity is due to psychiatric illness. In many case reports, probands and transmitting parents are not systematically evaluated for psychiatric traits. Here we report results from a systematic phenotyping protocol for neurodevelopmental and neuropsychiatric traits applied to all 3q29 deletion carriers in a multiplex family. Case presentation: Through the 3q29 registry at Emory University, a multiplex family was identified where three offspring had a paternally inherited 3q29 deletion. We evaluated all 4 3q29 deletion family members using our previously described standardized, systematic phenotyping protocol. The transmitting parent reported no psychiatric history, however upon evaluation he was discovered to meet criteria for multiple psychiatric diagnoses including previously undiagnosed schizoaffective disorder. All four 3q29 deletion individuals in the pedigree had multiple psychiatric diagnoses that interfered with quality of life and prohibited successful academic and occupational functioning. Cognitive ability for all individuals was average or below average, but within the normal range. Conclusions: This is the first case report of inherited 3q29 deletion syndrome where all affected individuals in the pedigree have been comprehensively and systematically evaluated for neurodevelopmental and psychiatric symptoms, using a standard battery of normed instruments administered by expert clinicians. Our investigation reveals that individuals with 3q29 deletion syndrome may have psychiatric morbidity that is debilitating, but only apparent through specialized evaluation by an expert. In the absence of appropriate evaluation, individuals with 3q29 deletion syndrome may suffer from psychiatric illness but lack avenues for access to care. The individuals evaluated here all have cognition in the normal range alongside multiple psychiatric diagnoses each, suggesting that cognitive ability alone is not a representative proxy for 3q29 deletion-associated disability. These results require replication in a larger cohort of individuals with 3q29 deletion syndrome. [ABSTRACT FROM AUTHOR]

BACKGROUND: The United States Food and Drug Administration (FDA) required all enriched cereal grains to be fortified with folic acid in 1998. In April 2016, the FDA published regulations allowing voluntary fortification of corn masa flour with folic acid to address the high prevalence of folic acid‐preventable spina bifida and anencephaly among Hispanics. Our objective was to survey folic acid‐fortified corn masa and corn tortilla products in the country using a national social media campaign. METHODS: In January 2019, we conducted a social media campaign (#FindFolicAcid) engaging citizens nationwide to survey local stores for folic acid in corn masa flour and corn tortilla products. Photos of products and nutrition labels were shared with the researchers on various social media portals (e.g., Twitter, Facebook, and Instagram). The posts were summarized for a descriptive analysis. RESULTS: People from 28 states shared photos of 132 products, including 43 unique corn masa flour or corn tortilla products. Of those, only three corn masa flour products included folic acid: (a) Maseca Instant White (4.4 lb bag); (b) Masa Brosa Instant; and (c) Masa Brosa Instant Blue. None of the corn tortilla products were fortified. CONCLUSION: There is a failure of voluntary folic acid fortification of corn masa flour and products nationally. Until folic acid fortification of corn masa products is implemented fully in the country, Hispanic women of reproductive age should take a daily vitamin supplement which includes at least 400 mcg of folic acid to prevent spina bifida and anencephaly. [ABSTRACT FROM AUTHOR]