Functional assessment tools in children with Pompe disease: A pilot comparative study to identify suitable outcome measures for the standard of care.

CONCLUSIONS: The proposed protocol seems to be reliable and should be done every six months, because of the progressive natural history of the disease, the rapid changes typical of developmental age and the need to document ERT effects. About cognitive functions, additional tests to classical intelligence scales (WISC, WPPSI) should be useful to better describe specific neuropsychological profile.
PMID: 30166092 [PubMed - as supplied by publisher]

Source: European Journal of Paediatric Neurology - August 18, 2018 Category: Neurology Authors: Ricci F, Brusa C, Rossi F, Rolle E, Placentino V, Berardinelli A, Pagliardini V, Porta F, Spada M, Mongini T Tags: Eur J Paediatr Neurol Source Type: research