Medicine and Health Sciences Commons^™

Gender Dysphoria In Adolescents With Ehlers-Danlos Syndrome., Jordan T. Jones, William R. Black, Christine Moser, Eric T. Rush, Lindsey Malloy-Walton

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVES: Ehlers-Danlos Syndrome represents a family of heritable connective tissue disorders that include joint hypermobility, tissue fragility, and skin hyperextensibility. Ehlers-Danlos Syndrome presents with clinical sequela across multiple body systems that require multidisciplinary care. Little is known about adolescents with Ehlers-Danlos Syndrome who are transgender and gender diverse. To date, there have been no reports of transgender and gender diverse youth in pediatric patients with Ehlers-Danlos Syndrome. The objective of this study was to characterize transgender and gender diverse adolescents with Ehlers-Danlos Syndrome seen in a pediatric multidisciplinary specialty clinic.

METHODS: A retrospective chart review was performed and it was …

Down Syndrome-Associated Arthritis (Da): Diagnostic And Management Challenges., Jordan T. Jones, Jacqueline Kitchen, Nasreen Talib

Manuscripts, Articles, Book Chapters and Other Papers

Down syndrome (DS) is one of the most common birth defects in the United States, the most common genomic disorder of intellectual disability, and results from trisomy 21. This chromosome disorder causes an extensive, heterogenous phenotype that results in a broad presentation of symptoms that includes atlantoaxial instability, congenital heart defects, muscle hypotonia, hypothyroidism, hematologic disorders, recurrent infections, and autoimmune diseases. The autoimmune diseases are caused by immune system dysregulation that results in increased pro-inflammatory cytokines, along with other innate and adaptive immune system dysregulation. This is the likely cause of the increased risk of inflammatory arthritis or Down syndrome-associated …