Nicola Grotteschi, Magali Jane Rochat, Virginia Pollarini, Alessandro Ghezzo, Camilla Pellegrini, Giovanna Calandra-Buonaura, Raffaele Lodi, Caterina Tonon, Pietro Cortelli, Maria Giulia Bacalini, Gian Luca Pirazzoli, Luisa Sambati
{"title":"一组患有唐氏综合症的成年人的神经学发现。","authors":"Nicola Grotteschi, Magali Jane Rochat, Virginia Pollarini, Alessandro Ghezzo, Camilla Pellegrini, Giovanna Calandra-Buonaura, Raffaele Lodi, Caterina Tonon, Pietro Cortelli, Maria Giulia Bacalini, Gian Luca Pirazzoli, Luisa Sambati","doi":"10.1007/s10072-025-08195-7","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"3639-3649"},"PeriodicalIF":2.7000,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12267337/pdf/","citationCount":"0","resultStr":"{\"title\":\"Neurological findings in a cohort of adults with down syndrome.\",\"authors\":\"Nicola Grotteschi, Magali Jane Rochat, Virginia Pollarini, Alessandro Ghezzo, Camilla Pellegrini, Giovanna Calandra-Buonaura, Raffaele Lodi, Caterina Tonon, Pietro Cortelli, Maria Giulia Bacalini, Gian Luca Pirazzoli, Luisa Sambati\",\"doi\":\"10.1007/s10072-025-08195-7\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":19191,\"journal\":{\"name\":\"Neurological Sciences\",\"volume\":\" \",\"pages\":\"3639-3649\"},\"PeriodicalIF\":2.7000,\"publicationDate\":\"2025-08-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12267337/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Neurological Sciences\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s10072-025-08195-7\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/5/13 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neurological Sciences","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s10072-025-08195-7","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/5/13 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Neurological findings in a cohort of adults with down syndrome.
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.
期刊介绍:
Neurological Sciences is intended to provide a medium for the communication of results and ideas in the field of neuroscience. The journal welcomes contributions in both the basic and clinical aspects of the neurosciences. The official language of the journal is English. Reports are published in the form of original articles, short communications, editorials, reviews and letters to the editor. Original articles present the results of experimental or clinical studies in the neurosciences, while short communications are succinct reports permitting the rapid publication of novel results. Original contributions may be submitted for the special sections History of Neurology, Health Care and Neurological Digressions - a forum for cultural topics related to the neurosciences. The journal also publishes correspondence book reviews, meeting reports and announcements.