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Critical vitamin deficiencies in autism spectrum disorder: Reversible and irreversible outcomes

Abstract

Vitamin deficiencies are an emerging concern in the management of children with autism spectrum disorder (ASD). Particular attention is required for recognizing the variable signs caused by unbalanced food intakes. We herein report two patients with multiple vitamin deficiencies who needed critical care showing different prognoses. Patient 1 with ‘Shoshin’ beriberi presenting with cardiac arrest had thiamine deficiency developed severe neurological sequelae despite rapid vitamin supplementation. Patient 2, who had leg pain and a limping gait, showed a rapid recovery with intravenous infusion and tube feeding after being diagnosed with scurvy. A literature search revealed several children with ASD with critically ill thiamine deficiency, but few reports documented a life-threatening condition in the form of cardiac arrest at the onset. Considering the high observation rate of food selectivity in children with ASD, early intervention is required to prevent the exacerbation of vitamin deficiencies to severe neurological disabilities.

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Fig. 1: Imaging and histological findings of Patient 1 and Patient 2.

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Acknowledgements

We thank the patients and their families for cooperating with our study as well as Yuichi Mushimoto, Kanako Ishii, Ryoji Taira, Kousuke Yonemoto and the co-medical staff in our hospital for their helpful discussion. This study was supported by JSPS KAKENHI grant numbers JP19K10613 (Chong), JP19K08281 (Sakai); AMED under the grant number JP20ek0109411, JP20wm0325002h; a research grant for prion diseases from the Ministry of Health, Labour and Welfare of Japan (JP20FC1054, Sakai); The Japan Epilepsy Research Foundation, and Kawano Masanori Memorial Public Interest Incorporated Foundation for Promotion of Pediatrics (Sakai). The funders had no role in the study design, writing of the report or decision to submit the article for publication.

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Chong, Torio, Sakai and Ohga conceptualized and designed the study, drafted the initial manuscript and reviewed and revised the manuscript; Fujii, Hirata, Matsuoka, Sonoda, Ichimiya, Yada, Kaku, Ishimura, Sasazuki, Koga and Sanefuji managed the patients, organized ethical discussions and critically reviewed the manuscript for important intellectual content. All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.

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Correspondence to Yasunari Sakai.

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The authors declare no competing interests.

Ethics approval and consent to participate

This study was performed in stringent compliance with the protocol approved by the institutional review board at Kyushu University (#2021-306). Written informed consent was obtained from the parents for the content of this report. Multidisciplinary, repeated discussions were held before making a decision on tracheostomy for Patient 1. The members included physicians with different subspecialties, nurses, psychologists, medical social workers and the ethics board at Kyushu University Hospital.

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Chong, P.F., Torio, M., Fujii, F. et al. Critical vitamin deficiencies in autism spectrum disorder: Reversible and irreversible outcomes. Eur J Clin Nutr (2022). https://doi.org/10.1038/s41430-022-01170-x

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