Z. Morales, Gloria Martin-Lepe
{"title":"Potocki-Lupski病例的早期护理干预","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":"{\"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}","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}
引用次数: 0
Intervención en Atención Temprana en un caso de Potocki-Lupski
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.