Co-occurring conditions in children with Down syndrome and autism: a retrospective study
Abstract 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,...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-03-01
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| Series: | Journal of Neurodevelopmental Disorders |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s11689-023-09478-w |
| _version_ | 1797865542077382656 |
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| author | Noemi A. Spinazzi Jonathan D. Santoro Katherine Pawlowski Gabriel Anzueto Yamini J. Howe Lina R. Patel Nicole T. Baumer |
| author_facet | Noemi A. Spinazzi Jonathan D. Santoro Katherine Pawlowski Gabriel Anzueto Yamini J. Howe Lina R. Patel Nicole T. Baumer |
| author_sort | Noemi A. Spinazzi |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-04-09T23:10:52Z |
| format | Article |
| id | doaj.art-7fc618daa86d456e82af4df284d0141a |
| institution | Directory Open Access Journal |
| issn | 1866-1955 |
| language | English |
| last_indexed | 2024-04-09T23:10:52Z |
| publishDate | 2023-03-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Neurodevelopmental Disorders |
| spelling | doaj.art-7fc618daa86d456e82af4df284d0141a2023-03-22T10:26:37ZengBMCJournal of Neurodevelopmental Disorders1866-19552023-03-011511810.1186/s11689-023-09478-wCo-occurring conditions in children with Down syndrome and autism: a retrospective studyNoemi A. Spinazzi0Jonathan D. Santoro1Katherine Pawlowski2Gabriel Anzueto3Yamini J. Howe4Lina R. Patel5Nicole T. Baumer6UCSF Benioff Children’s Hospital OaklandDivision of Neuroimmunology, Department of Pediatrics, Children’s Hospital Los AngelesDivision of Developmental Medicine, Boston Children’s HospitalDivision of Developmental and Behavioral Pediatrics, Ann & Robert H. Lurie Children’s Hospital of ChicagoMassachusetts General Hospital Lurie Center for AutismDepartment of Psychiatry, Children’s Hospital ColoradoDivision of Developmental Medicine, Boston Children’s HospitalAbstract 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.https://doi.org/10.1186/s11689-023-09478-wDown syndromeAutism spectrum disorderMedical diseaseComorbidPrevalenceCo-occurring medical conditions |
| spellingShingle | Noemi A. Spinazzi Jonathan D. Santoro Katherine Pawlowski Gabriel Anzueto Yamini J. Howe Lina R. Patel Nicole T. Baumer Co-occurring conditions in children with Down syndrome and autism: a retrospective study Journal of Neurodevelopmental Disorders Down syndrome Autism spectrum disorder Medical disease Comorbid Prevalence Co-occurring medical conditions |
| title | Co-occurring conditions in children with Down syndrome and autism: a retrospective study |
| title_full | Co-occurring conditions in children with Down syndrome and autism: a retrospective study |
| title_fullStr | Co-occurring conditions in children with Down syndrome and autism: a retrospective study |
| title_full_unstemmed | Co-occurring conditions in children with Down syndrome and autism: a retrospective study |
| title_short | Co-occurring conditions in children with Down syndrome and autism: a retrospective study |
| title_sort | co occurring conditions in children with down syndrome and autism a retrospective study |
| topic | Down syndrome Autism spectrum disorder Medical disease Comorbid Prevalence Co-occurring medical conditions |
| url | https://doi.org/10.1186/s11689-023-09478-w |
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