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Attention-deficit hyperactivity disorder in Brazilian patients with phenylketonuria

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Abstract

Recent studies have shown that patients with phenylketonuria (PKU), even with the early diagnosis and continuous treatment, may have symptoms of attention-deficit hyperactivity disorder (ADHD) and that the prevalence of ADHD in this population would be higher than in the general population. This study aims to determine the prevalence of ADHD in a sample of PKU patients from Southern Brazil. Patients were prospectively assessed by clinical interviews, neurological examination, and application of the MTA-SNAP-IV scales for patients aged 5–17 years and the Adult Self-Report Scale for patients over 17 years. Thirty-one patients (mean age = 17.4; early diagnosis = 27) were followed. Patients with ADHD and younger than 17 years had a median Phe in the last 6 months of life higher than those without the diagnosis of ADHD (ADHD patients = 617.1 µmol/L, no-ADHD patients 393.2 µmol/L, and p = 0.03). There was a predominantly hyperactive/impulsivity clinical presentation of ADHD (n = 4/5 patients), which differs from that reported elsewhere in the literature. Future studies are essential to better define the clinical presentation of ADHD in these patients and further elucidate its pathophysiology.

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Acknowledgements

We would like to thank the patients and the families who agreed to participate in this study. In addition, we would like to thank Prof. Francjan J. van Spronsen for his valuable comments that help improving the final version of the manuscript.

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Authors and Affiliations

  1. Postgraduate Program in Genetics Applied to Medicine, Department of Pediatrics, Medical University, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil

    Fernanda Gabriel Santos da Silva & Ida Vanessa Doederlein Schwartz

  2. Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 3° andar, Porto Alegre, RS, 90035-903, Brazil

    Fernanda Gabriel Santos da Silva, Filippo Pinto e Vairo, Carolina Fischinger Moura de Souza & Ida Vanessa Doederlein Schwartz

  3. Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil

    Ida Vanessa Doederlein Schwartz

Authors
  1. Fernanda Gabriel Santos da Silva
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  2. Filippo Pinto e Vairo
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  3. Carolina Fischinger Moura de Souza
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  4. Ida Vanessa Doederlein Schwartz
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Correspondence to Fernanda Gabriel Santos da Silva.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Informed consent was obtained from all individual participants included in the study.

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da Silva, F.G.S., e Vairo, F.P., de Souza, C.F.M. et al. Attention-deficit hyperactivity disorder in Brazilian patients with phenylketonuria. Acta Neurol Belg 120, 893–899 (2020). https://doi.org/10.1007/s13760-018-0972-2

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  • DOI: https://doi.org/10.1007/s13760-018-0972-2

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