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Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome
European Journal of Medical Genetics ( IF 1.6 ) Pub Date : 2020-09-28 , DOI: 10.1016/j.ejmg.2020.104064
Pierre-Henri Roux-Levy , Marie Bournez , Alice Masurel , Nolwenn Jean , Sophie Chancenotte , Mathieu Bordes , Frédérique Debomy , Delphine Minot , Emilie Schmitt , Sandrine Vinault , Elodie Gautier , Didier Lacombe , Sylvie Odent , Myriam Mikaty , Sylvie Manouvrier , Jamal Ghoumid , David Geneviève , Natacha Lehman , Nicole Philip , Patrick Edery , Jenny Cornaton , Jennifer Gallard , Delphine Héron , Coralie Rastel , Frédéric Huet , Christel Thauvin-Robinet , Alain Verloes , Christine Binquet , Maïté Tauber , Catherine Lejeune , Laurence Faivre

Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder with a characteristic behavioural phenotype. A multidisciplinary approach to care is required to prevent multiple medical complications in individuals affected by PWS. The aim of this study was to describe the rehabilitation, medical care, educational and social support provided to school-aged French PWS patients with varying neuropsychological profiles. Data were obtained from a French multicentre study that included patients aged 4–20 years with diverse genetic syndromes. Nineteen PWS subjects with a mean age of 9.2 years were included. The mean full-scale intellectual quotient (IQ) was 58 (Wechsler scale). There were frequent dissociations between verbal and performance IQ that were not associated with a specific profile. We also observed lower autonomy and communication scores (5.3 years and 5.9 years equivalent, respectively, Vineland scale), the absence of hyperactivity (Conners scale), and the presence of behavioural abnormalities (CBCL scale). Multidisciplinary medical supervision was generally coordinated by the paediatric endocrinologist and did not always include follow-up with all of the recommended specialists, in particular with a paediatric psychiatrist. Analysis of multidisciplinary rehabilitation conducted in public and private-sector establishment revealed failings in psychological support, occupational therapy and dietary follow-up. Regarding education, most children younger than 10 years were in normal schools, while older individuals were often cared for in medico-social institutions. In conclusion, children and adolescents with PWS generally received appropriate care. Though there have been considerable improvements in the management of children with PWS, reference centres should continue reinforcing the coordination of multidisciplinary supervision.



中文翻译:

为法国患有Prader-Willi综合征的儿童提供认知能力与康复,医疗和社会支持之间的关联

普拉德-威利综合症(PWS)是一种罕见的遗传性神经发育障碍,具有典型的行为表型。需要一种多学科的护理方法来预防受PWS影响的个体的多种医学并发症。这项研究的目的是描述向神经衰弱的法国PWS学龄患者提供的康复,医疗,教育和社会支持。数据来自法国的多中心研究,其中包括4-20岁的患有多种遗传综合症的患者。包括19名平均年龄为9.2岁的PWS受试者。平均全面智力商(IQ)为58(韦克斯勒规模)。言语智商和表现智商之间经常存在分离,而与特定的特征无关。我们还观察到较低的自治和沟通得分(分别相当于Vineland量表5.3年和5.9年),没有活动过度(Conners量表)和行为异常(CBCL量表)。多学科医学监督通常由儿科内分泌学家协调,并不总是包括所有推荐专家的随访,尤其是儿科精神病医生的随访。对公共和私营部门机构进行的多学科康复的分析表明,在心理支持,职业治疗和饮食随访方面均存在缺陷。关于教育,大多数10岁以下的儿童都在正规学校就读,而年龄较大的人经常在医疗社会机构得到照料。结论,患有PWS的儿童和青少年通常得到适当的护理。尽管对PWS儿童的管理已有很大改善,但参考中心仍应继续加强多学科监督的协调。

更新日期:2020-11-04
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