Co-occurring conditions in children with Down syndrome and autism: a retrospective study / Noemi A. SPINAZZI in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Co-occurring conditions in children with Down syndrome and autism: a retrospective study Type de document : texte imprimé Auteurs : Noemi A. SPINAZZI, Auteur ; Jonathan D. SANTORO, Auteur ; Katherine PAWLOWSKI, Auteur ; Gabriel ANZUETO, Auteur ; Yamini J. HOWE, Auteur ; Lina R. PATEL, Auteur ; Nicole T. BAUMER, Auteur Langues : Anglais (eng) Mots-clés : Male  Humans  Female  Autistic Disorder  Down Syndrome/complications/epidemiology  Autism Spectrum Disorder/complications/epidemiology  Retrospective Studies  Prospective Studies  Autism spectrum disorder  Co-occurring medical conditions  Comorbid  Down syndrome  Medical disease  Prevalence Index. décimale : PER Périodiques Résumé : BACKGROUND: Down syndrome (DS) is one of the most common genetic causes of intellectual disability, and it is associated with an increased incidence of numerous co-occurring conditions. Autism spectrum disorder (ASD) is common in persons with DS, with rates reported as high as 39%. However, little is known regarding co-occurring conditions in children with both DS and ASD. METHODS: A single-center retrospective review of prospective longitudinally collected clinical data was performed. Any patient with a confirmed diagnosis of DS evaluated at a large, specialized Down Syndrome Program in a tertiary pediatric medical center between March 2018 and March 2022 was included. A standardized survey which included demographic and clinical questions was administered during each clinical evaluation. RESULTS: In total, 562 individuals with DS were included. The median age was 10 years (IQR: 6.18-13.92). Of this group, 72 (13%) had a co-occurring diagnosis of ASD (DS+ASD). Individuals with DS+ASD were more likely to be male (OR 2.23, CI 1.29-3.84) and had higher odds of a current or prior diagnosis of constipation (OR 2.19, CI 1.31-3.65), gastroesophageal reflux (OR 1.91, CI 1.14-3.21), behavioral feeding difficulties (OR 2.71, CI 1.02-7.19), infantile spasms (OR 6.03, CI 1.79-20.34) and scoliosis (OR 2.73, CI 1.16-6.40). There were lower odds of congenital heart disease in the DS+ASD group (OR 0.56, CI 0.34-0.93). There was no observed difference in prematurity or Neonatal Intensive Care Unit complications between groups. Individuals with DS+ASD had similar odds of having a history of congenital heart defect requiring surgery to those with DS only. Furthermore, there was no difference in rates of autoimmune thyroiditis or celiac disease. There was also no difference in rates of diagnosed co-occurring neurodevelopmental or mental health conditions in this cohort, including anxiety disorders and attention-deficit/hyperactivity disorder. CONCLUSIONS: This study identifies a variety of medical conditions which are more frequent in children with DS+ASD than DS alone, providing important information for the clinical management of these patients. Future research should investigate the role of some of these medical conditions in the development of ASD phenotypes, and whether there may be distinct genetic and metabolic contributions towards these conditions. En ligne : https://dx.doi.org/10.1186/s11689-023-09478-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Co-occurring conditions in children with Down syndrome and autism: a retrospective study [texte imprimé] / Noemi A. SPINAZZI, Auteur ; Jonathan D. SANTORO, Auteur ; Katherine PAWLOWSKI, Auteur ; Gabriel ANZUETO, Auteur ; Yamini J. HOWE, Auteur ; Lina R. PATEL, Auteur ; Nicole T. BAUMER, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Male  Humans  Female  Autistic Disorder  Down Syndrome/complications/epidemiology  Autism Spectrum Disorder/complications/epidemiology  Retrospective Studies  Prospective Studies  Autism spectrum disorder  Co-occurring medical conditions  Comorbid  Down syndrome  Medical disease  Prevalence Index. décimale : PER Périodiques Résumé : BACKGROUND: Down syndrome (DS) is one of the most common genetic causes of intellectual disability, and it is associated with an increased incidence of numerous co-occurring conditions. Autism spectrum disorder (ASD) is common in persons with DS, with rates reported as high as 39%. However, little is known regarding co-occurring conditions in children with both DS and ASD. METHODS: A single-center retrospective review of prospective longitudinally collected clinical data was performed. Any patient with a confirmed diagnosis of DS evaluated at a large, specialized Down Syndrome Program in a tertiary pediatric medical center between March 2018 and March 2022 was included. A standardized survey which included demographic and clinical questions was administered during each clinical evaluation. RESULTS: In total, 562 individuals with DS were included. The median age was 10 years (IQR: 6.18-13.92). Of this group, 72 (13%) had a co-occurring diagnosis of ASD (DS+ASD). Individuals with DS+ASD were more likely to be male (OR 2.23, CI 1.29-3.84) and had higher odds of a current or prior diagnosis of constipation (OR 2.19, CI 1.31-3.65), gastroesophageal reflux (OR 1.91, CI 1.14-3.21), behavioral feeding difficulties (OR 2.71, CI 1.02-7.19), infantile spasms (OR 6.03, CI 1.79-20.34) and scoliosis (OR 2.73, CI 1.16-6.40). There were lower odds of congenital heart disease in the DS+ASD group (OR 0.56, CI 0.34-0.93). There was no observed difference in prematurity or Neonatal Intensive Care Unit complications between groups. Individuals with DS+ASD had similar odds of having a history of congenital heart defect requiring surgery to those with DS only. Furthermore, there was no difference in rates of autoimmune thyroiditis or celiac disease. There was also no difference in rates of diagnosed co-occurring neurodevelopmental or mental health conditions in this cohort, including anxiety disorders and attention-deficit/hyperactivity disorder. CONCLUSIONS: This study identifies a variety of medical conditions which are more frequent in children with DS+ASD than DS alone, providing important information for the clinical management of these patients. Future research should investigate the role of some of these medical conditions in the development of ASD phenotypes, and whether there may be distinct genetic and metabolic contributions towards these conditions. En ligne : https://dx.doi.org/10.1186/s11689-023-09478-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

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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