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Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype.

ABSTRACT: Koolen-de Vries syndrome (KdVS) is a rare genetic disorder caused by a de novo microdeletion in chromosomal region 17q21.31 encompassing KANSL1 or by a de novo intragenic pathogenic variant of KANSL1. KdVS is typically characterized by intellectual disability (ID), variable from mild to severe, developmental psychomotor delay, especially of expressive language development, friendly disposition, and multiple systemic abnormalities. So far, most of the individuals affected by KdVS are diagnosed in infancy or in adolescence; to the best of our knowledge, only 34 (including ours) adults have been reported in literature. Here we present the adult phenotype of a 63-year-old Italian woman affected by KdVS, caused by a 17q21.31 microdeletion. She is, to our knowledge, the oldest affected individual reported so far. We collected her clinical history and photographs, as well as those of other 26 adult patients described so far and compared her to them. We propose that the cardinal features of KdVS in adulthood are ID (ranging from mild to severe, usually moderate), friendly behavior, musculoskeletal abnormalities (especially scoliosis), and facial dysmorphism (a long face and a pronounced pear-shape nose with bulbous overhanging nasal tip). Therefore, we suggest considering KdVS in differential diagnosis in adult patients characterized by these features.

SUBMITTER: Farne M

PROVIDER: S-EPMC9297928 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:Introduction:Frailty has been studied among the old population due to its association with negative outcomes. Presently there is no gold standard for measuring frailty, but several studies have used the frailty phenotype of Fried consisting of five components (weakness, slowness, unintentional weight loss, exhaustion, and low physical activity) that classify individuals as robust, pre-frail, or frail, depending on the number of components affected, respectively, zero, one or two, and three or more. This study aims to explore the specific contribution of each of these components to the frailty phenotype in a sample of oldest old community-dwelling individuals. Materials and Methods:Individuals aged 80+ years old living in the community (N = 142) participated in this study. Sociodemographic data (age, sex, educational level, and marital status) and Fried's frailty phenotype were collected. Descriptive analysis summarized sociodemographic information and the frailty components. Multiple correspondence analysis (MCA) was performed to detect and explore relationships between frailty's five components. Results:Participants had a mean age of 88.07 years (SD = 5.30 years) and were mainly women (73.9%). The majority of the sample were considered frail (71.8%) and pre-frail (24.7%), and the most recurrent component for both groups was slowness. From the MCA analysis, a two-dimension solution was considered the most adequate, with 53.47% of variance explained. Dimension 1 (32.21% of variance explained) showed weakness as the most discriminant component; dimension 2 (21.26% of variance explained) showed unintentional weight loss as the most discriminant component. Discussion:Results revealed a high number of pre-frail and frail participants. MCA proved to add an important understanding in examining the frailty phenotype; it revealed weakness as the most discriminant component for dimension 1, suggesting a high association with the frailty phenotype. MCA also identified two main features of frailty: one related with physical features (motor behavioral and grip strength) including weakness, low physical activity, and slowness; and the second related with intrinsic conditions (unintentional weight loss and exhaustion). Conclusion:This study corroborates the need of a differentiated approach to the frailty phenotype among very old individuals, bringing for consideration the specific influence of its components.

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Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype.

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