AIM: Motor deterioration is a key feature of late infantile and juvenile metachromatic leucodystrophy (MLD). Assessment of the disease course implies the need for a standardized description of motor decline. The aim of this study was to establish a classification system for gross motor function in MLD and to assess its interrater reliability. METHOD: The Gross Motor Function Classification in MLD (GMFC-MLD) was modelled analogous to the Gross Motor Function Classification System in cerebral palsy. Motor data from 59 individuals (27 male; 32 female) with MLD (21 late infantile; 38 juvenile) born between 1970 and 2007 were gathered from a nationwide survey and classified by six independent raters. Median age at onset was 17 months (range 9-27 mo) for the late infantile group and 74 months (35-168 mo) for the juvenile group. RESULTS: The GMFC-MLD consists of seven levels and is applicable from the age of 18 months. It represents all clinically relevant stages from normal (level 0) to loss of all gross motor function (level 6). The kappa coefficient was 0.90 for overall rater agreement. There were no significant differences between level-specific kappa coefficients. INTERPRETATION: The GMFC-MLD is a highly reliable, feasible tool for standardized assessment of gross motor function in MLD which can be used for the description of the natural course of the disease and for evaluation of therapeutic options such as stem cell transplantation and enzyme replacement, both of which are topics of current research.
AIM: Motor deterioration is a key feature of late infantile and juvenile metachromatic leucodystrophy (MLD). Assessment of the disease course implies the need for a standardized description of motor decline. The aim of this study was to establish a classification system for gross motor function in MLD and to assess its interrater reliability. METHOD: The Gross Motor Function Classification in MLD (GMFC-MLD) was modelled analogous to the Gross Motor Function Classification System in cerebral palsy. Motor data from 59 individuals (27 male; 32 female) with MLD (21 late infantile; 38 juvenile) born between 1970 and 2007 were gathered from a nationwide survey and classified by six independent raters. Median age at onset was 17 months (range 9-27 mo) for the late infantile group and 74 months (35-168 mo) for the juvenile group. RESULTS: The GMFC-MLD consists of seven levels and is applicable from the age of 18 months. It represents all clinically relevant stages from normal (level 0) to loss of all gross motor function (level 6). The kappa coefficient was 0.90 for overall rater agreement. There were no significant differences between level-specific kappa coefficients. INTERPRETATION: The GMFC-MLD is a highly reliable, feasible tool for standardized assessment of gross motor function in MLD which can be used for the description of the natural course of the disease and for evaluation of therapeutic options such as stem cell transplantation and enzyme replacement, both of which are topics of current research.
Authors: Laura A Adang; Omar Sherbini; Laura Ball; Miriam Bloom; Anil Darbari; Hernan Amartino; Donna DiVito; Florian Eichler; Maria Escolar; Sarah H Evans; Ali Fatemi; Jamie Fraser; Leslie Hollowell; Nicole Jaffe; Christopher Joseph; Mary Karpinski; Stephanie Keller; Ryan Maddock; Edna Mancilla; Bruce McClary; Jana Mertz; Kiley Morgart; Thomas Langan; Richard Leventer; Sumit Parikh; Amy Pizzino; Erin Prange; Deborah L Renaud; William Rizzo; Jay Shapiro; Dean Suhr; Teryn Suhr; Davide Tonduti; Jacque Waggoner; Amy Waldman; Nicole I Wolf; Ayelet Zerem; Joshua L Bonkowsky; Genevieve Bernard; Keith van Haren; Adeline Vanderver Journal: Mol Genet Metab Date: 2017-08-20 Impact factor: 4.797
Authors: Rebecca Ahrens-Nicklas; Lars Schlotawa; Andrea Ballabio; Nicola Brunetti-Pierri; Mauricio De Castro; Thomas Dierks; Florian Eichler; Can Ficicioglu; Alan Finglas; Jutta Gaertner; Brian Kirmse; Joerg Klepper; Marcus Lee; Amber Olsen; Giancarlo Parenti; Arastoo Vossough; Adeline Vanderver; Laura A Adang Journal: Mol Genet Metab Date: 2018-01-31 Impact factor: 4.797
Authors: Christine Í Dali; Norman W Barton; Mohamed H Farah; Mihai Moldovan; Jan-Eric Månsson; Nitin Nair; Morten Dunø; Lotte Risom; Hongmei Cao; Luying Pan; Marcia Sellos-Moura; Andrea M Corse; Christian Krarup Journal: Ann Clin Transl Neurol Date: 2015-03-27 Impact factor: 4.511
Authors: Jan-Mendelt Tillema; Marloes Gm Derks; Petra J W Pouwels; Pim de Graaf; Diane F van Rappard; Frederik Barkhof; Marjan E Steenweg; Marjo S van der Knaap; Nicole I Wolf Journal: Ann Clin Transl Neurol Date: 2015-08-24 Impact factor: 4.511