Reliability of diagnostic measures in early onset ataxia

Rick Brandsma

    Onderzoeksoutput: Thesis fully internal (DIV)

    677 Downloads (Pure)


    Ataxia is characterized by the loss of smooth goal directed movements. The cerebellum and its networks are crucial for these smooth goal directed movements. Any disruption in these pathways will result in ataxia. Ataxia starting before the 25th year of life is referred to as Early Onset Ataxia (EOA).

    EOA concerns a large group of rare disorders with a wide variety in clinical presentation. This hampers uniform recognition and clinical assessment of EOA. The clinical assessment of EOA is also hampered by concurrence of normal, immature motor behavior, which could resemble ataxic features.

    For adequate surveillance of the severity of ataxia, different quantitative ataxia rating scales are applicable for children. These scales are reliable biomarkers in adults, in whom it was indicated that the scales are only influenced by the severity of ataxia. In children however, the reliability of ataxia rating scales have never been tested before.

    The studies in this thesis revealed that quantitative ataxia rating scales are reliable applicable in children. However, in children, the ataxia rating scales are also influenced by the normal development of the nervous system, other movement disorders and muscle weakness. This implies that the interpretation of ataxia rating scales depends on the clinical presentation of the child.

    This thesis also reveals that the reliability of the clinical assessment of EOA patients remains difficult, illustrated by a moderate inter-observer agreement. To increase the diagnostic yield in EOA, a diagnostic algorithm focusing on genetic testing is provided to guide the clinician in the diagnostic work-up.
    Originele taal-2English
    KwalificatieDoctor of Philosophy
    Toekennende instantie
    • Rijksuniversiteit Groningen
    • de Koning-Tijssen, Marina, Supervisor
    • Brouwer, Oebo, Supervisor
    • Sival, Deborah, Co-supervisor
    • Burger, Huibert, Co-supervisor
    • Dan, B., Beoordelingscommissie, Externe Persoon
    Datum van toekenning17-sep-2018
    Plaats van publicatie[Groningen]
    Gedrukte ISBN's978-94-034-0911-5
    Elektronische ISBN's978-94-034-0912-2
    StatusPublished - 2018

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