Horber Veronka, Andersen Guro L, Arnaud Catherine, De La Cruz Javier, Dakovic Ivana, Greitane Andra, Hensey Owen, Himmelmann Kate, Hollody Katalin, Horridge Karen, Künzle Christoph T, Marcelli Marco, Ortibus Els, Papavasiliou Antigone, Perra Oliver, Platt Mary J, Rackauskaite Gija, Sigurdardottir Solveig, Troha Gergeli Anja, Virella Daniel, Krägeloh-Mann Ingeborg, Sellier Elodie
From 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.
Neurology. 2023 Dec 12;101(24):e2509-e2521. doi: 10.1212/WNL.0000000000207851. Epub 2023 Oct 19.
To report on prevalence, associated impairments, severity, and neuroimaging findings in children with ataxic cerebral palsy (CP).
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.
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%.
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.
报告共济失调型脑性瘫痪（CP）患儿的患病率、相关损伤、严重程度及神经影像学表现。
对欧洲脑性瘫痪联合研究中心监测数据库（JRC-SCPE）中编码为共济失调型CP且于1980 - 2010年出生的儿童，分析其出生特征、包括相关损伤的严重程度概况、神经影像学模式及综合征的存在情况。定义依据经过验证的SCPE指南。使用泊松回归估计随时间的患病率。
在20个欧洲CP登记处共识别出679例共济失调型CP患儿。共济失调型CP的比例为3.8%，范围从0%至12.9%。随时间的患病率无显著趋势。约70%的共济失调型CP患儿能够行走，40%有严重智力障碍且损伤指数较高。共济失调型CP患儿大多足月出生（79%）且出生体重正常（77%）。根据SCPE分类，神经影像学模式显示正常表现的占29%，脑发育异常的占28.5%，其他表现的占23.5%，脑损伤的占19%。9%的患儿有遗传综合征。
这项基于登记处的关于共济失调型CP患儿的多中心研究为分析这种罕见CP亚型的患病率、严重程度及病因提供了大样本量。即便有严格的纳入和分类标准，各登记处在处理该亚型的方式上仍存在差异，共济失调型CP的诊断仍是一项挑战。共济失调型脑性瘫痪与其他CP亚型不同：共济失调型CP患儿的残疾概况在认知方面比粗大运动功能障碍更为明显。他们大多足月出生，病因很少提示为后天损伤。除神经影像学检查外，特别推荐对这种CP类型的患儿进行全面的基因检查。
