Levy Jake P, Oskoui Maryam, Ng Pamela, Andersen John, Buckley David, Fehlings Darcy, Kirton Adam, Koclas Louise, Pigeon Nicole, van Rensburg Esias, Wood Ellen, Shevell Michael
Faculty of Medicine (JPL), McGill University, Montreal, QC; Department of Pediatrics and Neurology and Neurosurgery (MO, MS), McGill University, Montreal, QC; Centre for Outcomes Research and Evaluation (MO, PN, MS), Research Institute of the McGill University Health Centre, Montreal, QC; Department of Pediatrics (JA), University of Alberta, Edmonton, AB; Janeway Children's Hospital (DB), St. John's, NL; Department of Paediatrics (DF), University of Toronto, Bloorview Research Institute, Toronto, ON; Departments of Pediatrics and Clinical Neurosciences (AK), Cumming School of Medicine, University of Calgary, AB; Centre de réadaptation Marie Enfant du CHU Sainte-Justine (LK), Montreal, QC; Centre hospitalier universitaire de Sherbrooke (NP), Sherbrooke, QC; BC Children's Hospital (EvR), Vancouver, BC; and IWK Health Centre (EW), Halifax, NS, Canada.
Neurol Clin Pract. 2020 Apr;10(2):131-139. doi: 10.1212/CPJ.0000000000000713.
To specifically report on ataxic-hypotonic cerebral palsy (CP) using registry data and to directly compare its features with other CP subtypes.
Data on prenatal, perinatal, and neonatal characteristics and gross motor function (Gross Motor Function Classification System [GMFCS]) and comorbidities in 35 children with ataxic-hypotonic CP were extracted from the Canadian Cerebral Palsy Registry and compared with 1,804 patients with other subtypes of CP.
Perinatal adversity was detected significantly more frequently in other subtypes of CP (odds ratio [OR] 4.3, 95% confidence interval [CI] 1.5-11.7). The gestational age at birth was higher in ataxic-hypotonic CP (median 39.0 weeks vs 37.0 weeks, = 0.027). Children with ataxic-hypotonic CP displayed more intrauterine growth restriction (OR 2.6, 95% CI 1.0-6.8) and congenital malformation (OR 2.4, 95% CI 1.2-4.8). MRI was more likely to be either normal (OR 3.8, 95% CI 1.4-10.5) or to show a cerebral malformation (OR 4.2, 95% CI 1.5-11.9) in ataxic-hypotonic CP. There was no significant difference in terms of GMFCS or the presence of comorbidities, except for more frequent communication impairment in ataxic-hypotonic CP (OR 4.2, 95% CI 1.5-11.6).
Our results suggest a predominantly genetic or prenatal etiology for ataxic-hypotonic CP and imply that a diagnosis of ataxic-hypotonic CP does not impart a worse prognosis with respect to comorbidities or functional impairment. This study contributes toward a better understanding of ataxic-hypotonic CP as a distinct nosologic entity within the spectrum of CP with its own pathogenesis, risk factors, clinical profile, and prognosis compared with other CP subtypes.
利用登记数据专门报告共济失调 - 低张型脑性瘫痪（CP），并将其特征与其他CP亚型直接进行比较。
从加拿大脑性瘫痪登记处提取35例共济失调 - 低张型CP患儿的产前、围产期和新生儿特征、粗大运动功能（粗大运动功能分类系统[GMFCS]）及合并症数据，并与1804例其他CP亚型患者的数据进行比较。
在其他CP亚型中，围产期逆境的检出频率显著更高（优势比[OR]4.3，95%置信区间[CI]1.5 - 11.7）。共济失调 - 低张型CP患儿的出生孕周更高（中位数39.0周对37.0周，P = 0.027）。共济失调 - 低张型CP患儿表现出更多的宫内生长受限（OR 2.6，95%CI 1.0 - 6.8）和先天性畸形（OR 2.4，95%CI 1.2 - 4.8）。共济失调 - 低张型CP患儿的MRI更可能正常（OR 3.8，95%CI 1.4 - 10.5）或显示脑畸形（OR 4.2，95%CI 1.5 - 11.9）。除共济失调 - 低张型CP中更频繁出现的沟通障碍（OR 4.2，95%CI 1.5 - 11.6）外，GMFCS或合并症的存在方面无显著差异。
我们的结果提示共济失调 - 低张型CP主要由遗传或产前病因引起，并且意味着共济失调 - 低张型CP的诊断在合并症或功能损害方面不会带来更差的预后。本研究有助于更好地理解共济失调 - 低张型CP作为CP谱系中一个独特的疾病实体，与其他CP亚型相比，具有其自身的发病机制、危险因素、临床特征和预后。
