Development and Preliminary Validation of a Parkinsonism-Dystonia Scale for Infants and Young Children.
Por:
Pons R, Pearson TS, Pérez-Dueñas B, Garcia-Cazorla A, Kurian MA, Dalivigka Z, Zouvelou V, Outsika C, Kokkinou E, Sigatullina M, Darling A, O'Callaghan-Gordo M, Spaull R, Steel DBD, Salamou E, Forjaz MJ and Rodriguez-Blazquez C
Publicada:
1 ago 2025
Ahead of Print:
13 may 2025
Resumen:
BACKGROUND: Parkinsonism in infancy is rare and is highly correlated with the presence of dystonia. Advances in treating and characterizing developmental and infantile degenerative parkinsonism have highlighted the need for a specialized assessment scale. OBJECTIVE: The aim of this study was to design and validate a scale that effectively assesses parkinsonism-dystonia in early life. METHODS: The Infantile Parkinsonism-Dystonia Rating Scale (IPDRS) was designed to capture the key clinical features of parkinsonism-dystonia in early life. It consists of 28 items across three subscales: Non-motor symptoms, Motor symptoms, and Dyskinesias. Thirty-two patients with hypokinetic movement disorder were scored following a standardized protocol. Filmed motor examinations were analyzed independently by three pediatric movement disorders specialists to evaluate interrater reliability. Twenty additional patients with primary neurotransmitter disorders were scored, and nine of them were evaluated at baseline and after treatment. Psychometric validation was conducted. RESULTS: A total of 52 patients were scored using the IPDRS. Mean age was 3.1 years (standard deviation [SD]: 2.0), and the mean IPDRS score was 40.8 (SD: 13.17). Internal consistency analysis demonstrated a Cronbach's a of 0.21 for Non-motor symptoms subscale, 0.84 for Motor symptoms subscale, and 0.95 for Dyskinesia subscale. Kappa indexes exceeded 0.70 in seven items. Correlation coefficients for dystonia items with the Barry-Albright-Dystonia Scale ranged from 0.46 to 0.64. After treatment, all IPDRS scores changed significantly, with an effect size of 2.42. CONCLUSIONS: The IPDRS appears to be a reliable and valid tool for assessing parkinsonism in early life. Further validation studies with a larger sample size are needed to confirm these findings and complete the validation process. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Filiaciones:
Pons R:
First Department of Pediatrics, Agia Sofia Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece
Pearson TS:
Division of Neurology, Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, Ohio, USA
Pérez-Dueñas B:
Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Autonomous University of Barcelona, CIBERER, Spanish National Network for Research on Rare Diseases, Barcelona, Spain
Garcia-Cazorla A:
Neurometabolic Unit, Neurology Department, Institut de Recerca, MetabERN and CIBERER, Hospital Sant Joan de Déu, Barcelona, Spain
Kurian MA:
Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom
Department of Neurology, Great Ormond Street Hospital, London, United Kingdom
Dalivigka Z:
Pediatric Rehabilitation Department, Pan & Aglaias Kyriakou Children's Hospital, Kallithea, Greece
Zouvelou V:
First Department of Pediatrics, Agia Sofia Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece
Outsika C:
First Department of Pediatrics, Agia Sofia Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece
Kokkinou E:
First Department of Pediatrics, Agia Sofia Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece
Sigatullina M:
Neurometabolic Unit, Neurology Department, Institut de Recerca, MetabERN and CIBERER, Hospital Sant Joan de Déu, Barcelona, Spain
Darling A:
Neurometabolic Unit, Neurology Department, Institut de Recerca, MetabERN and CIBERER, Hospital Sant Joan de Déu, Barcelona, Spain
Movement Disorders Unit, Neurology Department, Hospital Sant Joan de Déu, Barcelona, Spain
O'Callaghan-Gordo M:
Genetics and Molecular Medicine Service, Hospital Sant Joan de Déu, Barcelona, Spain
Neurometabolic Unit, Neurology Department, Institut de Recerca, MetabERN and CIBERER, Hospital Sant Joan de Déu, Barcelona, Spain
Spaull R:
Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom
Steel DBD:
Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom
Salamou E:
First Department of Pediatrics, Agia Sofia Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece
Forjaz MJ:
Red de Investigación en Cronicidad, Atención Primaria y Promoción de la Salud, Madrid, Spain
Centro Nacional de Epidemiología, Instituto de Salud Carlos III, Madrid, Spain
Rodriguez-Blazquez C:
Centro Nacional de Epidemiología y Centro de Investigaciones Biomédicas en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Madrid, Spain
Natl & Kapodistrian Univ Athens, Agia Sofia Childrens Hosp, Dept Pediat
1, Athens 11527, Greece
Ohio State Univ, Coll Med, Nationwide Childrens Hosp, Div Neurol,
Columbus, OH USA
Autonomous Univ Barcelona, Vall Hebron Res Inst, Pediat Neurol Res Grp,
CIBERER,Spanish Natl Network Res Rare Dis, Barcelona, Spain
Hosp St Joan de Deu, Neurometab Unit, Neurol Dept, Inst
Recerca,MetabERN, Barcelona, Spain
Hosp St Joan De Deu, CIBERER, Barcelona, Spain
UCL Great Ormond St Inst Child Hlth, Zayed Ctr Res Rare Dis Children,
Mol Neurosci, Dev Neurosci, London, England
Great Ormond St Hosp Sick Children, Dept Neurol, London, England
Pan & Aglaias Kyriakou Childrens Hosp, Pediat Rehabil Unit, Kallithea,
Greece
Hosp St Joan de Deu, Neurol Dept, Movement Disorders Unit, Barcelona,
Spain
Hosp St Joan de Deu, Genet & Mol Med Serv, Barcelona, Spain
Red Invest Cronicidad Atenc Primaria & Promoc Salu, Madrid, Spain
Inst Salud Carlos III, Ctr Nacl Epidemiol, Madrid, Spain
Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades
Neurodegenerat, Madrid, Spain
Green Submitted, hybrid
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