Neurological findings in a cohort of adults with down syndrome

• DOI: 10.1007/s10072-025-08195-7
• Publication Date: 2025-05-13T06:30:43Z
• Authors: Nicola Grotteschi; Magali Jane Rochat; Virginia Pollarini; Alessandro Ghezzo; Camilla Pellegrini; Giovanna Calandra...; Raffaele Lodi; Caterina Tonon; Pietro Cortelli; Maria Giulia Baca...; Gian Luca Pirazzoli; Luisa Sambati
• Keywords: Neurocognitive; Movement Disorders; Neurological examination

Abstract The aim of this study is to describe the results of a comprehensive neurological assessment conducted on a cohort of 70 adults with Down syndrome (DS), aged 21 to 74 years, recruited in Bologna, Italy. Neurocognitive disorder (NcD) was identified in 28.6% of participants and showed a significant association with psychiatric disorders (p=0.03). Psychiatric conditions were present in 40% of the cohort, while Down Syndrome Regression Disorder (DSRD) was diagnosed in 7.1%. Transient loss of consciousness affected 28.6% of individuals. Epilepsy, observed in 7.1%, was significantly associated with NcD (p=0.02). Neurological examination revealed that stereotypic movements correlated with DSRD (p<0.01), tics with obsessive-compulsive disorders (p=0.01), and hypokinetic movement disorders with psychotic conditions (p=0.03). Additionally, nystagmus and cerebellar signs were significantly associated with elevated serum bilirubin levels (p<0.01). These findings underscore the high prevalence and complexity of neurological comorbidities in adults with DS, emphasizing the need for specialized, multidisciplinary care.