Novel insight into GLUT1 deficiency syndrome: screening for emotional and behavioral problems in youths following ketogenic diet.

IF 1 Q3 PEDIATRICS
Minerva Pediatrics Pub Date : 2024-04-01 Epub Date: 2021-04-02 DOI:10.23736/S2724-5276.21.05923-1
Costanza Varesio, Martina P Zanaboni, Ludovica Pasca, Livio Provenzi, Cinzia Ferraris, Anna Tagliabue, Elena Pezzotti, Adriana Carpani, Pierangelo Veggiotti, Valentina DE Giorgis
{"title":"Novel insight into GLUT1 deficiency syndrome: screening for emotional and behavioral problems in youths following ketogenic diet.","authors":"Costanza Varesio, Martina P Zanaboni, Ludovica Pasca, Livio Provenzi, Cinzia Ferraris, Anna Tagliabue, Elena Pezzotti, Adriana Carpani, Pierangelo Veggiotti, Valentina DE Giorgis","doi":"10.23736/S2724-5276.21.05923-1","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a rare disorder with a broad spectrum of neurological manifestations. The ketogenic diet (KD) is, to date, the gold standard treatment. Behavioral problems, well recognized in patients with chronic conditions, have not been, so far, deeply investigated in GLUT1DS patients. We performed an exploratory study to assess the risk of emotional and behavioral problems and investigated the potential role of influencing factors related to the pathology itself or KD treatment.</p><p><strong>Methods: </strong>This was a mono-center retrospective study involving youths with GLUT1Ds treated with KD and a group of migraine patients age- and gender-matched. Patients were included if the main caregiver completed the Child Behavior Check List 6-18 (CBCL). Descriptive statistics for demographic and clinical data and questionnaire scores were computed. Correlational analyses were used to assess the potential associations of clinical variables and age and time from KD introduction with CBCL scores in GLUT1DS patients.</p><p><strong>Results: </strong>We enrolled nine youths with GLUT1DS and 9 with migraine. In the GLUT1DS group, none of the mean scores of the CBCL items fell within the borderline/clinical range, except for social problems located in the borderline range. Investigation for influencing factors revealed the patient's age related to withdrawn/depressive (r=0.709, P=0.032) and social problems (r=.684, P=0.042). Time from the introduction of KD was related to social problems (r=.827, P=0.006). From the comparison with the scores obtained from migraine patients, significantly higher scores emerged in the latter group in internalizing problems (Z=-2.48, P=0.01), externalizing problems (Z=-3.49, P<0.001), anxious/depressed subscale (Z=-2.37, P=0.014), somatic complaints subscale (Z=-2.624, P=0.008), aggressive behavior subscale (Z=-2.539, P=0.011).</p><p><strong>Conclusions: </strong>Although highly exploratory in its nature, this study provides a novel insight into GLUT1DS. Our data suggested that the risk for internalizing problems in GLUT1DS youths was related to higher age and higher time elapsed from KD introduction. They occurred at a sub-clinical level, making them difficult to detect, if not expressly and systematically investigated.</p>","PeriodicalId":56337,"journal":{"name":"Minerva Pediatrics","volume":null,"pages":null},"PeriodicalIF":1.0000,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Minerva Pediatrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.23736/S2724-5276.21.05923-1","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2021/4/2 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0

Abstract

Background: Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a rare disorder with a broad spectrum of neurological manifestations. The ketogenic diet (KD) is, to date, the gold standard treatment. Behavioral problems, well recognized in patients with chronic conditions, have not been, so far, deeply investigated in GLUT1DS patients. We performed an exploratory study to assess the risk of emotional and behavioral problems and investigated the potential role of influencing factors related to the pathology itself or KD treatment.

Methods: This was a mono-center retrospective study involving youths with GLUT1Ds treated with KD and a group of migraine patients age- and gender-matched. Patients were included if the main caregiver completed the Child Behavior Check List 6-18 (CBCL). Descriptive statistics for demographic and clinical data and questionnaire scores were computed. Correlational analyses were used to assess the potential associations of clinical variables and age and time from KD introduction with CBCL scores in GLUT1DS patients.

Results: We enrolled nine youths with GLUT1DS and 9 with migraine. In the GLUT1DS group, none of the mean scores of the CBCL items fell within the borderline/clinical range, except for social problems located in the borderline range. Investigation for influencing factors revealed the patient's age related to withdrawn/depressive (r=0.709, P=0.032) and social problems (r=.684, P=0.042). Time from the introduction of KD was related to social problems (r=.827, P=0.006). From the comparison with the scores obtained from migraine patients, significantly higher scores emerged in the latter group in internalizing problems (Z=-2.48, P=0.01), externalizing problems (Z=-3.49, P<0.001), anxious/depressed subscale (Z=-2.37, P=0.014), somatic complaints subscale (Z=-2.624, P=0.008), aggressive behavior subscale (Z=-2.539, P=0.011).

Conclusions: Although highly exploratory in its nature, this study provides a novel insight into GLUT1DS. Our data suggested that the risk for internalizing problems in GLUT1DS youths was related to higher age and higher time elapsed from KD introduction. They occurred at a sub-clinical level, making them difficult to detect, if not expressly and systematically investigated.

对 GLUT1 缺乏综合征的新认识:筛查采用生酮饮食的青少年的情绪和行为问题。
背景:葡萄糖转运体 1 型缺乏综合征(GLUT1DS葡萄糖转运体 1 型缺乏综合征(GLUT1DS)是一种罕见疾病,具有广泛的神经系统表现。迄今为止,生酮饮食(KD)是治疗该病的金标准。行为问题在慢性疾病患者中已得到广泛认可,但迄今为止,尚未对 GLUT1DS 患者的行为问题进行深入研究。我们进行了一项探索性研究,以评估出现情绪和行为问题的风险,并调查与病理本身或 KD 治疗相关的影响因素的潜在作用:这是一项单中心回顾性研究,涉及接受 KD 治疗的 GLUT1Ds 青少年患者和一组年龄与性别匹配的偏头痛患者。如果患者的主要照顾者填写了《儿童行为检查表6-18》(CBCL),则患者被纳入研究范围。对人口统计学、临床数据和问卷得分进行了描述性统计。相关分析用于评估 GLUT1DS 患者的临床变量、年龄以及从 KD 开始的时间与 CBCL 评分之间的潜在关联:我们招募了9名GLUT1DS青少年和9名偏头痛青少年。在GLUT1DS组中,除了社交问题处于边缘/临床范围外,其他CBCL项目的平均得分均未达到边缘/临床范围。对影响因素的调查显示,患者的年龄与孤僻/抑郁(r=.709,p=.032)和社交问题(r=.684,p=.042)有关。开始使用 KD 的时间与社交问题有关(r=.827,p=.006)。与偏头痛患者的得分相比,偏头痛患者在内化问题(Z=-2.48,p=.01)、外化问题(Z=-3.49,p<.001)、焦虑/抑郁分量表(Z=-2.37,p=.014)、躯体不适分量表(Z=-2.624,p=.008)、攻击行为分量表(Z=-2.539,p=.011)方面的得分显著高于偏头痛患者:尽管本研究具有高度探索性,但它提供了对 GLUT1DS 的新见解。我们的数据表明,GLUT1DS 青少年出现内化问题的风险与较高的年龄和引入 KD 后较长的时间有关。这些问题发生在亚临床水平,如果不进行明确和系统的调查,就很难发现。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
CiteScore
2.50
自引率
0.00%
发文量
294
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信