Tri Indah Winarni, Tanjung Ayu Sumekar, Widodo Sarjana, Hardian Hardian, Randi J Hagerman, Sultana Mh Faradz
{"title":"遗传服务有限的印度尼西亚脆性X综合征个体的异常行为特征。","authors":"Tri Indah Winarni, Tanjung Ayu Sumekar, Widodo Sarjana, Hardian Hardian, Randi J Hagerman, Sultana Mh Faradz","doi":"10.5582/irdr.2022.01075","DOIUrl":null,"url":null,"abstract":"<p><p>Fragile X syndrome (FXS) is caused by the full mutation in the fragile x messenger ribonucleoprotein 1 (<i>FMR1</i>) gene leading to the absence of the fragile X protein (FXP). Previous studies show that individuals with FXS exhibit changing behavior over time; therefore, this study aimed to elucidate the aberrant behavior profile of FXS individuals. The Aberrant Behavior Checklist-Community (ABC-C) was used to measure the aberrant behavior profile of individuals with FXS, which was rated by the parent/caregiver combined with clinical impression. A total of 58 items were used to assess aberrant behaviors across five subscales. Forty-nine individuals with FXS were included (32 males, 17 females) with a mean age of 32.9 ± 14.62 years in males and 33.4 ± 13.98 years in females. The average score of irritability and hyperactivity was significantly higher in male FXS individuals (5.37 ± 6.231 and 10.28 ± 8.524) than in female individuals (3.24 ± 7.093 and 3.76 ± 3.327) with <i>p</i> = 0.046 and <i>p</i> = 0.001, respectively. Overall irritability in FXS individuals significantly decreased over time (<i>ß</i> = -0.141; <i>p</i> = 0.032). A modest worsening in lethargy/social withdrawal in males across age and a gentle improvement in hyperactivity/noncompliance in male of FXS individuals were observed. FXS males had higher hyperactivity problems than FXS female individuals across age.</p>","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":null,"pages":null},"PeriodicalIF":1.1000,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9709619/pdf/irdr-11-215.pdf","citationCount":"0","resultStr":"{\"title\":\"The aberrant behavior profile in Indonesian individuals with fragile X syndrome with limited genetic services.\",\"authors\":\"Tri Indah Winarni, Tanjung Ayu Sumekar, Widodo Sarjana, Hardian Hardian, Randi J Hagerman, Sultana Mh Faradz\",\"doi\":\"10.5582/irdr.2022.01075\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Fragile X syndrome (FXS) is caused by the full mutation in the fragile x messenger ribonucleoprotein 1 (<i>FMR1</i>) gene leading to the absence of the fragile X protein (FXP). Previous studies show that individuals with FXS exhibit changing behavior over time; therefore, this study aimed to elucidate the aberrant behavior profile of FXS individuals. The Aberrant Behavior Checklist-Community (ABC-C) was used to measure the aberrant behavior profile of individuals with FXS, which was rated by the parent/caregiver combined with clinical impression. A total of 58 items were used to assess aberrant behaviors across five subscales. Forty-nine individuals with FXS were included (32 males, 17 females) with a mean age of 32.9 ± 14.62 years in males and 33.4 ± 13.98 years in females. The average score of irritability and hyperactivity was significantly higher in male FXS individuals (5.37 ± 6.231 and 10.28 ± 8.524) than in female individuals (3.24 ± 7.093 and 3.76 ± 3.327) with <i>p</i> = 0.046 and <i>p</i> = 0.001, respectively. Overall irritability in FXS individuals significantly decreased over time (<i>ß</i> = -0.141; <i>p</i> = 0.032). A modest worsening in lethargy/social withdrawal in males across age and a gentle improvement in hyperactivity/noncompliance in male of FXS individuals were observed. FXS males had higher hyperactivity problems than FXS female individuals across age.</p>\",\"PeriodicalId\":14420,\"journal\":{\"name\":\"Intractable & rare diseases research\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.1000,\"publicationDate\":\"2022-11-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9709619/pdf/irdr-11-215.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Intractable & rare diseases research\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5582/irdr.2022.01075\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Intractable & rare diseases research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5582/irdr.2022.01075","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
The aberrant behavior profile in Indonesian individuals with fragile X syndrome with limited genetic services.
Fragile X syndrome (FXS) is caused by the full mutation in the fragile x messenger ribonucleoprotein 1 (FMR1) gene leading to the absence of the fragile X protein (FXP). Previous studies show that individuals with FXS exhibit changing behavior over time; therefore, this study aimed to elucidate the aberrant behavior profile of FXS individuals. The Aberrant Behavior Checklist-Community (ABC-C) was used to measure the aberrant behavior profile of individuals with FXS, which was rated by the parent/caregiver combined with clinical impression. A total of 58 items were used to assess aberrant behaviors across five subscales. Forty-nine individuals with FXS were included (32 males, 17 females) with a mean age of 32.9 ± 14.62 years in males and 33.4 ± 13.98 years in females. The average score of irritability and hyperactivity was significantly higher in male FXS individuals (5.37 ± 6.231 and 10.28 ± 8.524) than in female individuals (3.24 ± 7.093 and 3.76 ± 3.327) with p = 0.046 and p = 0.001, respectively. Overall irritability in FXS individuals significantly decreased over time (ß = -0.141; p = 0.032). A modest worsening in lethargy/social withdrawal in males across age and a gentle improvement in hyperactivity/noncompliance in male of FXS individuals were observed. FXS males had higher hyperactivity problems than FXS female individuals across age.