Alternative Diagnoses in the Work Up of Down Syndrome Regression Disorder / Mellad M. KHOSHNOOD ; Lina NGUYEN ; Benjamin N. VOGEL ; Natalie K. BOYD ; Kelli C. PAULSEN ; Michael S. RAFII in Journal of Autism and Developmental Disorders, 55-6 (June 2025)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 55-6 (June 2025) . - p.2085-2091 Titre : Alternative Diagnoses in the Work Up of Down Syndrome Regression Disorder Type de document : texte imprimé Auteurs : Mellad M. KHOSHNOOD, Auteur ; Lina NGUYEN, Auteur ; Benjamin N. VOGEL, Auteur ; Natalie K. BOYD, Auteur ; Kelli C. PAULSEN, Auteur ; Michael S. RAFII, Auteur Article en page(s) : p.2085-2091 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Down Syndrome Regression Disorder (DSRD) is a diagnosis of exclusion. Psychiatric and neuroimmunologic etiologies have been proposed although the exact etiology remains unknown. This study sought to review non-DSRD diagnoses at a large quaternary medical center specializing in the diagnosis of DSRD and compare clinical characteristics between those diagnosed with DSRD and those with non-DSRD diagnoses. En ligne : https://doi.org/10.1007/s10803-023-06057-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=556 [article] Alternative Diagnoses in the Work Up of Down Syndrome Regression Disorder [texte imprimé] / Mellad M. KHOSHNOOD, Auteur ; Lina NGUYEN, Auteur ; Benjamin N. VOGEL, Auteur ; Natalie K. BOYD, Auteur ; Kelli C. PAULSEN, Auteur ; Michael S. RAFII, Auteur . - p.2085-2091. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 55-6 (June 2025) . - p.2085-2091 Index. décimale : PER Périodiques Résumé : Down Syndrome Regression Disorder (DSRD) is a diagnosis of exclusion. Psychiatric and neuroimmunologic etiologies have been proposed although the exact etiology remains unknown. This study sought to review non-DSRD diagnoses at a large quaternary medical center specializing in the diagnosis of DSRD and compare clinical characteristics between those diagnosed with DSRD and those with non-DSRD diagnoses. En ligne : https://doi.org/10.1007/s10803-023-06057-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=556

Conducting clinical trials in persons with Down syndrome: summary from the NIH INCLUDE Down syndrome clinical trials readiness working group / Nicole T. BAUMER in Journal of Neurodevelopmental Disorders, 14 (2022)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 14 (2022) Titre : Conducting clinical trials in persons with Down syndrome: summary from the NIH INCLUDE Down syndrome clinical trials readiness working group Type de document : texte imprimé Auteurs : Nicole T. BAUMER, Auteur ; Mara L. BECKER, Auteur ; George T. CAPONE, Auteur ; Kathleen EGAN, Auteur ; Juan FORTEA, Auteur ; Benjamin L. HANDEN, Auteur ; Elizabeth HEAD, Auteur ; James E. HENDRIX, Auteur ; Ruth Y. LITOVSKY, Auteur ; Andre STRYDOM, Auteur ; Ignacio E. TAPIA, Auteur ; Michael S. RAFII, Auteur Langues : Anglais (eng) Mots-clés : Cohort Studies  Down Syndrome/complications/therapy  Humans  Clinical research  Clinical trials  Down syndrome  Intellectual disability  Recruitment  Research engagement Index. décimale : PER Périodiques Résumé : The recent National Institute of Health (NIH) INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) initiative has bolstered capacity for the current increase in clinical trials involving individuals with Down syndrome (DS). This new NIH funding mechanism offers new opportunities to expand and develop novel approaches in engaging and effectively enrolling a broader representation of clinical trials participants addressing current medical issues faced by individuals with DS. To address this opportunity, the NIH assembled leading clinicians, scientists, and representatives of advocacy groups to review existing methods and to identify those areas where new approaches are needed to engage and prepare DS populations for participation in clinical trial research. This paper summarizes the results of the Clinical Trial Readiness Working Group that was part of the INCLUDE Project Workshop: Planning a Virtual Down Syndrome Cohort Across the Lifespan Workshop held virtually September 23 and 24, 2019. En ligne : https://dx.doi.org/10.1186/s11689-022-09435-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Conducting clinical trials in persons with Down syndrome: summary from the NIH INCLUDE Down syndrome clinical trials readiness working group [texte imprimé] / Nicole T. BAUMER, Auteur ; Mara L. BECKER, Auteur ; George T. CAPONE, Auteur ; Kathleen EGAN, Auteur ; Juan FORTEA, Auteur ; Benjamin L. HANDEN, Auteur ; Elizabeth HEAD, Auteur ; James E. HENDRIX, Auteur ; Ruth Y. LITOVSKY, Auteur ; Andre STRYDOM, Auteur ; Ignacio E. TAPIA, Auteur ; Michael S. RAFII, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 14 (2022) Mots-clés : Cohort Studies  Down Syndrome/complications/therapy  Humans  Clinical research  Clinical trials  Down syndrome  Intellectual disability  Recruitment  Research engagement Index. décimale : PER Périodiques Résumé : The recent National Institute of Health (NIH) INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) initiative has bolstered capacity for the current increase in clinical trials involving individuals with Down syndrome (DS). This new NIH funding mechanism offers new opportunities to expand and develop novel approaches in engaging and effectively enrolling a broader representation of clinical trials participants addressing current medical issues faced by individuals with DS. To address this opportunity, the NIH assembled leading clinicians, scientists, and representatives of advocacy groups to review existing methods and to identify those areas where new approaches are needed to engage and prepare DS populations for participation in clinical trial research. This paper summarizes the results of the Clinical Trial Readiness Working Group that was part of the INCLUDE Project Workshop: Planning a Virtual Down Syndrome Cohort Across the Lifespan Workshop held virtually September 23 and 24, 2019. En ligne : https://dx.doi.org/10.1186/s11689-022-09435-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder / Jonathan D. SANTORO in Journal of Neurodevelopmental Disorders, 14 (2022)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 14 (2022) Titre : Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder Type de document : texte imprimé Auteurs : Jonathan D. SANTORO, Auteur ; Rebecca PARTRIDGE, Auteur ; Runi TANNA, Auteur ; Dania PAGARKAR, Auteur ; Mellad KHOSHNOOD, Auteur ; Mustafa REHMANI, Auteur ; Ryan M. KAMMEYER, Auteur ; Grace Y. GOMBOLAY, Auteur ; Kristen FISHER, Auteur ; Allison CONRAVEY, Auteur ; Jane EL-DAHR, Auteur ; Alison L. CHRISTY, Auteur ; Lina PATEL, Auteur ; Melanie A. MANNING, Auteur ; Heather VAN MATER, Auteur ; Michael S. RAFII, Auteur ; Eileen A. QUINN, Auteur Langues : Anglais (eng) Mots-clés : Activities of Daily Living  Case-Control Studies  Down Syndrome/complications/therapy  Humans  Immunotherapy/methods  Neuroinflammatory Diseases  Retrospective Studies  Cerebrospinal fluid  Down syndrome  Encephalopathy  Immunotherapy  Regression Index. décimale : PER Périodiques Résumé : BACKGROUND: Down syndrome regression disorder is a symptom cluster consisting of neuropsychiatric regression without cause. This study evaluated the incidence of neurodiagnostic abnormalities in individuals with Down syndrome regression disorder and determined if abnormalities are indicative of responses to therapeutic intervention. METHODS: A retrospective, multi-center, case-control study was performed. Patients were required to have subacute onset and the presence of four of five symptom groups present (cognitive decline, expressive language, sleep derangement, loss of ability to perform activities of daily living, and/or a new movement disorder) and no other explanation for symptoms. RESULTS: Individuals with Down syndrome regression disorder were comparable to a cohort of individuals with only Down syndrome although had higher rates of autoimmune disease (p = 0.02, 95%CI 1.04-1.75). Neurodiagnostic abnormalities were found on EEG (n = 19, 26%), neuroimaging (n = 16, 22%), and CSF (n = 9, 17%). Pleocytosis was appreciated in five cases, elevated total protein in nine, elevated IgG index in seven, and oligoclonal bands in two. Testing within 2 years of symptom onset was more likely to have neurodiagnostic abnormalities (p = 0.01, 95%CI 1.64-37.06). In individuals with neurodiagnostic abnormalities, immunotherapy was nearly four times more likely to have a therapeutic effect than in those without neurodiagnostic abnormalities (OR 4.11, 95%CI 1.88-9.02). In those with normal neurodiagnostic studies (n = 43), IVIg was effective in 14 of 17 (82%) patients as well although other immunotherapies were uniformly ineffective. CONCLUSIONS: This study reports the novel presence of neurodiagnostic testing abnormalities in individuals with Down syndrome regression disorder, providing credence to this symptom cluster potentially being of neurologic and/or neuroimmunologic etiology. En ligne : https://dx.doi.org/10.1186/s11689-022-09446-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder [texte imprimé] / Jonathan D. SANTORO, Auteur ; Rebecca PARTRIDGE, Auteur ; Runi TANNA, Auteur ; Dania PAGARKAR, Auteur ; Mellad KHOSHNOOD, Auteur ; Mustafa REHMANI, Auteur ; Ryan M. KAMMEYER, Auteur ; Grace Y. GOMBOLAY, Auteur ; Kristen FISHER, Auteur ; Allison CONRAVEY, Auteur ; Jane EL-DAHR, Auteur ; Alison L. CHRISTY, Auteur ; Lina PATEL, Auteur ; Melanie A. MANNING, Auteur ; Heather VAN MATER, Auteur ; Michael S. RAFII, Auteur ; Eileen A. QUINN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 14 (2022) Mots-clés : Activities of Daily Living  Case-Control Studies  Down Syndrome/complications/therapy  Humans  Immunotherapy/methods  Neuroinflammatory Diseases  Retrospective Studies  Cerebrospinal fluid  Down syndrome  Encephalopathy  Immunotherapy  Regression Index. décimale : PER Périodiques Résumé : BACKGROUND: Down syndrome regression disorder is a symptom cluster consisting of neuropsychiatric regression without cause. This study evaluated the incidence of neurodiagnostic abnormalities in individuals with Down syndrome regression disorder and determined if abnormalities are indicative of responses to therapeutic intervention. METHODS: A retrospective, multi-center, case-control study was performed. Patients were required to have subacute onset and the presence of four of five symptom groups present (cognitive decline, expressive language, sleep derangement, loss of ability to perform activities of daily living, and/or a new movement disorder) and no other explanation for symptoms. RESULTS: Individuals with Down syndrome regression disorder were comparable to a cohort of individuals with only Down syndrome although had higher rates of autoimmune disease (p = 0.02, 95%CI 1.04-1.75). Neurodiagnostic abnormalities were found on EEG (n = 19, 26%), neuroimaging (n = 16, 22%), and CSF (n = 9, 17%). Pleocytosis was appreciated in five cases, elevated total protein in nine, elevated IgG index in seven, and oligoclonal bands in two. Testing within 2 years of symptom onset was more likely to have neurodiagnostic abnormalities (p = 0.01, 95%CI 1.64-37.06). In individuals with neurodiagnostic abnormalities, immunotherapy was nearly four times more likely to have a therapeutic effect than in those without neurodiagnostic abnormalities (OR 4.11, 95%CI 1.88-9.02). In those with normal neurodiagnostic studies (n = 43), IVIg was effective in 14 of 17 (82%) patients as well although other immunotherapies were uniformly ineffective. CONCLUSIONS: This study reports the novel presence of neurodiagnostic testing abnormalities in individuals with Down syndrome regression disorder, providing credence to this symptom cluster potentially being of neurologic and/or neuroimmunologic etiology. En ligne : https://dx.doi.org/10.1186/s11689-022-09446-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Hypovitaminosis D in persons with Down syndrome and autism spectrum disorder / Natalie K. BOYD in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Hypovitaminosis D in persons with Down syndrome and autism spectrum disorder Type de document : texte imprimé Auteurs : Natalie K. BOYD, Auteur ; Julia NGUYEN, Auteur ; Mellad M. KHOSHNOOD, Auteur ; Timothy JIANG, Auteur ; Lina NGUYEN, Auteur ; Lorena MENDEZ, Auteur ; Noemi A. SPINAZZI, Auteur ; Melanie A. MANNING, Auteur ; Michael S. RAFII, Auteur ; Jonathan D. SANTORO, Auteur Langues : Anglais (eng) Mots-clés : Humans  Autism Spectrum Disorder/complications/epidemiology/diagnosis  Down Syndrome/complications  Retrospective Studies  Vitamin D  Vitamin D Deficiency/complications/epidemiology  Autoimmune Diseases/complications  Autism spectrum disorder  Autoimmune  Down syndrome  Immunity  Neurodevelopmental  Trisomy 21  Vitamin D 25-OH Index. décimale : PER Périodiques Résumé : BACKGROUND: Plasma levels of vitamin D have been reported to be low in persons with Down syndrome (DS) and existing data is limited to small and homogenous cohorts. This is of particular importance in persons with DS given the high rates of autoimmune disease in this population and the known relationship between vitamin D and immune function. This study sought to investigate vitamin D status in a multi-center cohort of individuals with DS and compare them to individuals with autism spectrum disorder (ASD) and neurotypical (NT) controls. METHODS: A retrospective, multi-center review was performed. The three sites were located at latitudes of 42.361145, 37.44466, and 34.05349. Patients were identified by the International Classification of Diseases (ICD)-9 or ICD-10 codes for DS, ASD, or well-child check visits for NT individuals. The first vitamin D 25-OH level recorded in the electronic medical record (EMR) was used in this study as it was felt to be the most reflective of a natural and non-supplemented state. Vitamin D 25-OH levels below 30 ng/mL were considered deficient. RESULTS: In total, 1624 individuals with DS, 5208 with ASD, and 30,775 NT controls were identified. Individuals with DS had the lowest mean level of vitamin D 25-OH at 20.67 ng/mL, compared to those with ASD (23.48 ng/mL) and NT controls (29.20 ng/mL) (p < 0.001, 95% CI: -8.97 to -6.44). A total of 399 (24.6%) individuals with DS were considered vitamin D deficient compared to 1472 (28.3%) with ASD and 12,397 (40.3%) NT controls (p < 0.001, 95% CI: -5.43 to -2.36). Individuals with DS with higher body mass index (BMI) were found to be more likely to have lower levels of vitamin D (p < 0.001, 95% CI: -0.3849 to -0.1509). Additionally, having both DS and a neurologic diagnosis increased the likelihood of having lower vitamin D levels (p < 0.001, 95% CI: -5.02 to -1.28). Individuals with DS and autoimmune disease were much more likely to have lower vitamin D levels (p < 0.001, 95% CI: -6.22 to -1.55). Similarly, a history of autoimmunity in a first-degree relative also increased the likelihood of having lower levels of vitamin D in persons with DS (p = 0.01, 95% CI: -2.45 to -0.63). CONCLUSIONS: Individuals with DS were noted to have hypovitaminosis D in comparison to individuals with ASD and NT controls. Associations between vitamin D deficiency and high BMI, personal autoimmunity, and familial autoimmunity were present in individuals with DS. En ligne : https://dx.doi.org/10.1186/s11689-023-09503-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Hypovitaminosis D in persons with Down syndrome and autism spectrum disorder [texte imprimé] / Natalie K. BOYD, Auteur ; Julia NGUYEN, Auteur ; Mellad M. KHOSHNOOD, Auteur ; Timothy JIANG, Auteur ; Lina NGUYEN, Auteur ; Lorena MENDEZ, Auteur ; Noemi A. SPINAZZI, Auteur ; Melanie A. MANNING, Auteur ; Michael S. RAFII, Auteur ; Jonathan D. SANTORO, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Humans  Autism Spectrum Disorder/complications/epidemiology/diagnosis  Down Syndrome/complications  Retrospective Studies  Vitamin D  Vitamin D Deficiency/complications/epidemiology  Autoimmune Diseases/complications  Autism spectrum disorder  Autoimmune  Down syndrome  Immunity  Neurodevelopmental  Trisomy 21  Vitamin D 25-OH Index. décimale : PER Périodiques Résumé : BACKGROUND: Plasma levels of vitamin D have been reported to be low in persons with Down syndrome (DS) and existing data is limited to small and homogenous cohorts. This is of particular importance in persons with DS given the high rates of autoimmune disease in this population and the known relationship between vitamin D and immune function. This study sought to investigate vitamin D status in a multi-center cohort of individuals with DS and compare them to individuals with autism spectrum disorder (ASD) and neurotypical (NT) controls. METHODS: A retrospective, multi-center review was performed. The three sites were located at latitudes of 42.361145, 37.44466, and 34.05349. Patients were identified by the International Classification of Diseases (ICD)-9 or ICD-10 codes for DS, ASD, or well-child check visits for NT individuals. The first vitamin D 25-OH level recorded in the electronic medical record (EMR) was used in this study as it was felt to be the most reflective of a natural and non-supplemented state. Vitamin D 25-OH levels below 30 ng/mL were considered deficient. RESULTS: In total, 1624 individuals with DS, 5208 with ASD, and 30,775 NT controls were identified. Individuals with DS had the lowest mean level of vitamin D 25-OH at 20.67 ng/mL, compared to those with ASD (23.48 ng/mL) and NT controls (29.20 ng/mL) (p < 0.001, 95% CI: -8.97 to -6.44). A total of 399 (24.6%) individuals with DS were considered vitamin D deficient compared to 1472 (28.3%) with ASD and 12,397 (40.3%) NT controls (p < 0.001, 95% CI: -5.43 to -2.36). Individuals with DS with higher body mass index (BMI) were found to be more likely to have lower levels of vitamin D (p < 0.001, 95% CI: -0.3849 to -0.1509). Additionally, having both DS and a neurologic diagnosis increased the likelihood of having lower vitamin D levels (p < 0.001, 95% CI: -5.02 to -1.28). Individuals with DS and autoimmune disease were much more likely to have lower vitamin D levels (p < 0.001, 95% CI: -6.22 to -1.55). Similarly, a history of autoimmunity in a first-degree relative also increased the likelihood of having lower levels of vitamin D in persons with DS (p = 0.01, 95% CI: -2.45 to -0.63). CONCLUSIONS: Individuals with DS were noted to have hypovitaminosis D in comparison to individuals with ASD and NT controls. Associations between vitamin D deficiency and high BMI, personal autoimmunity, and familial autoimmunity were present in individuals with DS. En ligne : https://dx.doi.org/10.1186/s11689-023-09503-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

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