Prevalence, Clinical Features, Neuroimaging, and Genetic Findings in Children With Ataxic Cerebral Palsy in Europe
Veronka Horber1, Guro L Andersen1, Catherine Arnaud1
1From the Department of Paediatric Neurology (V.H., I.K.-M.), University Children's Hospital Tübingen, Germany; Norwegian Quality and Surveillance Registry for Cerebral Palsy (G.L.A.), Vestfold Hospital Trust, Tønsberg, Norway; CERPOP (C.A.), UMR 1295 Toulouse University, Inserm, Paul Sabatier University, Toulouse; Clinical Epidemiology Unit (C.A.), University Hospital of Toulouse, France; Imas12 (J.D.L.C.), Hospital Universitario 12 de Octubre, RedSAMID, Madrid Spain; Department of Pediatrics (I.D.), Children's Hospital, University of Zagreb Croatia; Association Rehabilitation Center (A.G.), Riga, Latvia; The Central Remedial Clinic (O.H.), Dublin, Ireland; Department of Pediatrics (K. Himmelmann), Clinical Sciences, Sahlgrenska Academy, University of Gothenburg; Regional Rehabilitation Centre (K. Himmelmann), Queen Silvia Children's Hospital, Gothenburg, Sweden; Department of Pediatrics (K. Hollody), Faculty of Medicine, University of Pecs, Hungary; Childhood Disability and Development (K. Horridge), University of Sunderland, UK; Zentrum für Kinderneurologie (C.T.K.), Entwicklung und Rehabilitation, Ostschweizer Kinderspital, St. Gallen, Switzerland; Developmental Age Mental Health and Rehabilitation Unit (M.M.), ASL (local Health Institution Viterbo), Viterbo, Italy; Department of Development and Regeneration (E.O.), KU Leuven, Belgium; Iaso Children's Hospital (A.P.), Athens, Greece; Queen's University Belfast (O.P.), UK; Norwich Medical School (M.J.P.), University of East Anglia, Norwich, UK; Department of Pediatrics and Adolescent Medicine (G.R.), Aarhus University Hospital, Denmark; Counselling and Diagnostic Centre (S.S.), Iceland Department of Child and Adolescent & Developmental Neurology (A.T.G.), Children´s Hospital, University Medical Centre Ljubljana, Slovenia; PVNPC (D.V.), Programa de Vigilância Nacional da Paralisia Cerebral, Departamento de Epidemiologia, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa, Portugal; Grenoble Alpes University (E.S.), CNRS, Grenoble INP, CHU Grenoble Alpes, TIMC-IMAG; and Registre des Handicaps de l'Enfant et Observatoire Périnatal (E.S.), Grenoble, France.
Insights
Ataxic cerebral palsy (CP) affects 3.8% of children, often presenting with severe intellectual impairment rather than gross motor deficits. Genetic factors are frequently implicated, necessitating thorough genetic evaluation alongside neuroimaging.
Area of Science:
- Neurology
- Pediatrics
- Developmental Pediatrics
Background:
- Ataxic cerebral palsy (CP) is a rare subtype of CP.
- Understanding its prevalence, characteristics, and origins is crucial for diagnosis and management.
Purpose of the Study:
- To determine the prevalence of ataxic CP.
- To analyze associated impairments, severity, and neuroimaging findings in children with ataxic CP.
- To explore potential etiological factors.
Main Methods:
- Analysis of data from 20 European CP registers (1980-2010).
- Inclusion of 679 children diagnosed with ataxic CP.
- Assessment of birth characteristics, impairments, neuroimaging, and syndromes using validated SCPE guidelines.
Main Results:
- Ataxic CP accounted for 3.8% of cases, with significant regional variation.
- Approximately 70% could walk, but 40% had severe intellectual impairment.
- Most children were born at term with normal birth weight; neuroimaging showed diverse findings, with brain maldevelopments and normal findings being most common.
- Genetic syndromes were identified in 9% of cases.
Conclusions:
- Ataxic CP presents a distinct profile with more pronounced cognitive than motor dysfunction.
- The condition is often associated with term birth and rarely suggests acquired injuries.
- Diagnosis remains challenging, and a comprehensive genetic workup is recommended in addition to neuroimaging.
Background And Objectives:
To report on prevalence, associated impairments, severity, and neuroimaging findings in children with ataxic cerebral palsy (CP).
Methods:
In children coded as having ataxic CP in the Central database of Joint Research Center-Surveillance of Cerebral Palsy in Europe (JRC-SCPE) and born during 1980-2010, birth characteristics, severity profiles including associated impairments, neuroimaging patterns, and the presence of syndromes were analyzed. Definitions were according to validated SCPE guidelines. Prevalence over time was estimated using Poisson regression.
Results:
In total, 679 children with ataxic CP were identified in 20 European CP registers. The proportion with ataxic CP was 3.8% and varied from 0% to 12.9%. Prevalence over time showed no significant trend. Approximately 70% of children with ataxic CP were able to walk, and 40% had severe intellectual impairment and a high impairment index. Children with ataxic CP were mostly born at term (79%) and with normal birth weight (77%). Neuroimaging patterns revealed normal findings in 29%, brain maldevelopments in 28.5%, miscellaneous findings in 23.5%, and brain injuries in 19%, according to the SCPE classification. Genetic syndromes were described in 9%.
Discussion:
This register-based multicenter study on children with ataxic CP provides a large sample size for the analysis of prevalence, severity, and origin of this rare CP subtype. Even with strict inclusion and classification criteria, there is variation between registers on how to deal with this subtype, and diagnosis of ataxic CP remains a challenge. Ataxic cerebral palsy differs from other CP subtypes: children with ataxic CP have a disability profile that is more pronounced in terms of cognitive than gross motor dysfunction. They are mostly term born and the origin rarely suggests acquired injuries. In addition to neuroimaging, a comprehensive genetic workup is particularly recommended for children with this CP type.
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