Z. Morales, Gloria Martin-Lepe
{"title":"Intervención en Atención Temprana en un caso de Potocki-Lupski","authors":"Z. Morales, Gloria Martin-Lepe","doi":"10.5093/cc2020a11","DOIUrl":null,"url":null,"abstract":"Potocki-Lupski syndrome is a genetic syndrome caused by a microduplication on chromosome 17p11.2. Most cases appear de novo and are characterized by a heterogeneous symptomatology that usually includes hypotonia, developmental delay, congenital anomalies and alterations in behavior of various kinds that, in some cases, may be associated with autism spectrum disorders. Papers on psychological intervention and treatment of this syndrome are scarce. This paper describes the evaluation and intervention by Early Care carried out over a period of 18 months for a two-year-old child diagnosed with this syndrome. The results show a positive evolution at a clinical level in the different areas of development, Zaira Morales https://orcid.org/0000-0002-4907-7389 es profesora asociada del Departamento de Psicología Clínica y experimental de la Facultad de Educación, Psicología y Ciencias del Deporte de la Universidad de Huelva. Gloria Martin-Lepe es Psicóloga sanitaria en el Centro de atención temprana del Hospital de San Juan de Dios de Sevilla. La correspondencia de este artículo debe ser enviada a Zaira Morales al email: zaira.morales@dpsi.uhu.es Intervención en Atención Temprana en un caso de Potocki-Lupski Early Care Intervention in a Case of Potocki-Lupski Syndrome 2 Atención temprAnA y potocki-Lupski Revista Clínica Contemporánea (2020), 11, e14, 1-14 https://doi.org/10.5093/cc2020a11 © 2020 Colegio Oficial de la Psicología de Madrid ISSN: 1989-9912 adding a practical perspective to studies of minors with this rather unknown syndrome, as well as supporting a symptomatology similar to that found in previous studies.","PeriodicalId":41015,"journal":{"name":"Revista Clinica Contemporanea","volume":"1 1","pages":""},"PeriodicalIF":0.1000,"publicationDate":"2020-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Revista Clinica Contemporanea","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5093/cc2020a11","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PSYCHOLOGY, CLINICAL","Score":null,"Total":0}
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Potocki-Lupski病例的早期护理干预
Potocki-Lupski综合征是一种由染色体17p11.2上的微重复引起的遗传综合征。大多数病例是新发的,其特征是异质性症状,通常包括张力减退、发育迟缓、先天性异常和各种行为改变,在某些情况下,这些行为改变可能与自闭症谱系障碍有关。关于这种综合征的心理干预和治疗的论文很少。本文描述了早期护理对一名被诊断为该综合征的两岁儿童进行的为期18个月的评估和干预。Zaira Morales说,研究结果显示,在不同的发展领域,临床水平出现了积极的变化https://orcid.org/0000-0002-4907-7389Clínica心理学系教授和韦尔瓦大学教育学院、心理学系和研究中心的实验教授。Gloria Martin Lepe是塞维利亚圣胡安迪奥斯医院临时中心的Psicóloga疗养院。Zaira Morales的电子邮箱:zaira.morales@dpsi.uhu.es对Potocki Lupski综合征患者的早期护理干预2 Atención temprA和Potocki卢pski Revista Clínica Contemporánea(2020),11,e14,1-14https://doi.org/10.5093/cc2020a11©2020马德里精神病学会ISSN:1989-9912为患有这种未知综合征的未成年人的研究增加了一个实用的视角,并支持与先前研究中发现的症状学相似的症状学。
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