Neurocognitive profiles in MSUD school-age patients View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2017-05

AUTHORS

Juliette Bouchereau, Julie Leduc-Leballeur, Samia Pichard, Apolline Imbard, Jean-François Benoist, Marie-Thérèse Abi Warde, Jean-Baptiste Arnoux, Valérie Barbier, Anaïs Brassier, Pierre Broué, Aline Cano, Brigitte Chabrol, Gilles Damon, Claire Gay, Isabelle Guillain, Florence Habarou, Delphine Lamireau, Chris Ottolenghi, Laetitia Paermentier, Frédérique Sabourdy, Guy Touati, Hélène Ogier de Baulny, Pascale de Lonlay, Manuel Schiff

ABSTRACT

Maple syrup urine disease (MSUD), an inborn error of amino acids catabolism is characterized by accumulation of branched chain amino acids (BCAAs) leucine, isoleucine, valine and their corresponding alpha-ketoacids. Impact on the cognitive development has been reported historically, with developmental delays of varying degree. Currently, earlier diagnosis and improved management allow a better neurodevelopment, without requirement of special education. However, specific impairments can be observed, and so far, results of detailed neurocognitive assessments are not available. The aim of this study was to analyse neurocognitive profiles of French MSUD patients. This was a multicentre retrospective study on MSUD patients who underwent neurocognitive evaluation at primary school age. Twenty-one patients with classical neonatal onset MSUD were included. The patients' mean age at the time of evaluation was 8.7 years. The mean intellectual quotient (IQ) score was in the normal range (95.1 ± 12.6). In a subset of eight patients, a consistent developmental pattern of higher verbal than performance IQ was observed (mean of the difference 25.7 ± 8.7, p < 0.0001). No correlation could be established between this pattern and long-term metabolic balance (BCAA blood levels), or severity of acute metabolic imbalances, or leucine blood levels at diagnosis and time to toxin removal procedure. These data show that some MSUD patients may exhibit an abnormal neurocognitive profile with higher verbal than performance abilities. This might suggest an executive dysfunction disorder that would need to be further investigated by specialized testing. This pattern is important to detect in MSUD, as appropriate neuropsychological treatment strategies should be proposed. More... »

PAGES

377-383

References to SciGraph publications

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s10545-017-0033-7

    DOI

    http://dx.doi.org/10.1007/s10545-017-0033-7

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1084025285

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/28324240


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    429 Reference Centre for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, 48 boulevard Sérurier, 75019, Paris, France
    430 Robert Debré University Hospital, PROTECT, INSERM U1141, University Paris Diderot, Sorbonne Paris Cité, Paris, France
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    432 https://www.grid.ac/institutes/grid.414244.3 schema:alternateName Hôpital Nord
    433 schema:name Pediatrics Department, Hôpital Nord, Saint-Etienne University Hospital, Saint-Etienne, France
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    438 https://www.grid.ac/institutes/grid.457379.b schema:alternateName Délégation Midi-Pyrénées, Limousin
    439 schema:name Biochemistry Department, Institut Fédératif de Biologie, Purpan University Hospital, Toulouse, France
    440 INSERM UMR1037, Toulouse III University, Toulouse, France
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