Hypovitaminosis D in persons with Down syndrome and autism spectrum disorder

Journal of Neurodevelopmental Disorders

Research

Melanie A. Manning¹  Michael S. Rafii²  Noemi A. Spinazzi³  Natalie K. Boyd⁴  Lorena Mendez⁴  Timothy Jiang⁴  Mellad M. Khoshnood⁴  Lina Nguyen⁴  Jonathan D. Santoro⁵  Julia Nguyen⁶ 

[1]Department of Genetics, Stanford University School of Medicine, Palo Alto, CA, USA

[2]Department of Neurology, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA

[3]Alzheimer’s Therapeutic Research Institute, University of Southern California, San Diego, CA, USA

[4]Department of Pediatrics, Benioff Children’s Hospital, University of California San Francisco, Oakland, CA, USA

[5]Division of Neurology, Children’s Hospital Los Angeles, 4650 Sunset Blvd, MS82, 90027, Los Angeles, CA, USA

[6]Division of Neurology, Children’s Hospital Los Angeles, 4650 Sunset Blvd, MS82, 90027, Los Angeles, CA, USA

[7]Department of Neurology, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA

[8]Princeton University, Princeton, NJ, USA

关键词: Down syndrome;    Autism spectrum disorder;    Vitamin D 25-OH;    Immunity;    Autoimmune;    Neurodevelopmental;    Trisomy 21;   

DOI  :  10.1186/s11689-023-09503-y

 received in 2023-03-29, accepted in 2023-10-09,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundPlasma 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.MethodsA 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.ResultsIn 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).ConclusionsIndividuals 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.

【 授权许可】

CC BY   
© BioMed Central Ltd., part of Springer Nature 2023

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