Am J Med Genet B Neuropsychiatr Genet
January 2025
People with mosaicism for trisomy 21 have been shown to exhibit many of the same phenotypic traits present in people with non-mosaic Down syndrome, but with varying symptom severity. However, the behavioral phenotype of people with mosaic Down syndrome (mDS) has not been well characterized. This study aimed to examine the prevalence of self-report and caregiver-report symptoms of depression and anxiety among a sample of 62 participants with mDS aged 12-46 and assess their association with the percentage of trisomy 21 in blood and/or buccal mucosa cells.
View Article and Find Full Text PDFBackground/objectives: Pelvic radiotherapy (RT) improves survival in gynecologic cancer patients but often results in gastrointestinal (GI) toxicity, affecting quality of life. Standard nutrition guidance lacks specificity for these survivors, complicating dietary choices. To address this gap, the EDIBLE intervention was developed to offer structured dietary self-management skills to alleviate RT-induced GI toxicity.
View Article and Find Full Text PDFPeople with mosaicism for trisomy 21 have been shown to exhibit the many of same phenotypic traits present in people with non-mosaic Down syndrome, but with varying symptom severity. However, the behavioral phenotype of people with mosaic Down syndrome (mDS) has not been well characterized. This study aimed to examine the prevalence of self-report and caregiver-report symptoms of depression and anxiety among a sample of 62 participants with mDS aged 12 - 46, and assess their association with the percentage of trisomy 21 in blood and/or buccal mucosa cells.
View Article and Find Full Text PDFAm J Med Genet C Semin Med Genet
December 2023
Loss of previously acquired developmental skills in children with Down syndrome (DS) is not a well characterized phenomenon. We identified 20 confirmed cases of childhood-onset skill loss for descriptive analysis. Eligible participants were recruited from a specialty clinic for persons with DS at a large medical center.
View Article and Find Full Text PDF