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Review
. 2024 Apr 10;13(8):2190.
doi: 10.3390/jcm13082190.

Psychiatric Manifestations in Children and Adolescents with Inherited Metabolic Diseases

Valentina Baglioni  1 , Fabiola Bozza  1 , Giuliana Lentini  1 , Annachiara Beatrice  1 , Noemi Cameli  1 , Elisa Maria Colacino Cinnante  1 , Arianna Terrinoni  1 , Francesca Nardecchia  1 , Francesco Pisani  1
Affiliations
Review

Psychiatric Manifestations in Children and Adolescents with Inherited Metabolic Diseases

Valentina Baglioni et al. J Clin Med. .

Abstract

Background: Inherited metabolic disorders (IEMs) can be represented in children and adolescents by psychiatric disorders. The early diagnosis of IEMs is crucial for clinical outcome and treatment. The aim of this review is to analyze the most recurrent and specific psychiatric features related to IEMs in pediatrics, based on the onset type and psychiatric phenotypes. Methods: Following the PRISMA Statement, a systematic literature review was performed using a predefined algorithm to find suitable publications in scientific databases of interest. After removing duplicates and screening titles and abstracts, suitable papers were analyzed and screened for inclusion and exclusion criteria. Finally, the data of interest were retrieved from the remaining articles. Results: The results of this study are reported by type of symptoms onset (acute and chronic) and by possible psychiatric features related to IEMs. Psychiatric phenomenology has been grouped into five main clinical manifestations: mood and anxiety disorders; schizophrenia-spectrum disorders; catatonia; eating disorders; and self-injurious behaviors. Conclusions: The inclusion of a variety of psychiatric manifestations in children and adolescents with different IEMs is a key strength of this study, which allowed us to explore the facets of seemingly different disorders in depth, avoiding possible misdiagnoses, with the related delay of early and appropriate treatments.

Keywords: IEMs; inborn errors of metabolism; inherited metabolic disorders; metabolic diseases; neuropsychiatric manifestations; neuropsychiatric symptoms.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

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Figure 1
Flow-chart of the systematic review.
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References

    1. Simons A., Eyskens F., De Groof A., Van Diest E., Deboutte D., Vermeiren R. Cognitive functioning and psychiatric disorders in children with a metabolic disease. Eur. Child Adolesc. Psychiatry. 2006;15:207–213. doi: 10.1007/s00787-006-0524-9. - DOI - PubMed
    1. Simons A., Eyskens F., Glazemakers I., van West D. Can psychiatric childhood disorders be due to inborn errors of metabolism? Psychiatry. 2016;26:143–154. doi: 10.1007/s00787-016-0908-4. - DOI - PMC - PubMed
    1. Horvath G.A., Stowe R.M., Ferreira C.R., Blau N. Clinical and biochemical footprints of inherited metabolic diseases. III. Psychiatric presentations. Mol. Genet. Metab. 2020;130:1–6. doi: 10.1016/j.ymgme.2020.02.007. - DOI - PMC - PubMed
    1. Walterfang M., Bonnot O., Mocellin R., Velakoulis D. The neuropsychiatry of inborn errors of metabolism. J. Inherit. Metab. Dis. 2013;36:687–702. doi: 10.1007/s10545-013-9618-y. - DOI - PubMed
    1. Nia S. Psychiatric signs and symptoms in treatable inborn errors of metabolism. J. Neurol. 2014;261((Suppl. 2)):559–568. doi: 10.1007/s00415-014-7396-6. - DOI - PMC - PubMed

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