• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

100名6至18岁苯丙酮尿症患儿心理行为问题的相关因素。

Factors associated with psycho-behavioral problems among 100 children with phenylketonuria aged 6-18 years.

作者信息

Xue Mei, Shen Ming, Wang Shunan, Pang Bo, Zhang Xiaoqian, Chen Kening, Zhang Zhixin, Niu Wenquan

机构信息

Graduate School, Beijing University of Chinese Medicine, Beijing, China.

Department of Pediatrics, China-Japan Friendship Hospital, Beijing, China.

出版信息

Orphanet J Rare Dis. 2025 Jun 11;20(1):297. doi: 10.1186/s13023-025-03824-y.

DOI:10.1186/s13023-025-03824-y
PMID:40500796
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12153110/
Abstract

BACKGROUND

Phenylketonuria (PKU) is a rare disease. Children who are diagnosed with PKU often encounter psycho-behavioral difficulties, which can significantly impact quality of life and social integration. The aim of this study was to evaluate the prevalence of psycho-behavioral difficulties and explore potential factors associated with their occurrence in PKU children aged 6-18 years.

METHODS

From May 2022 to May 2024, 100 children with PKU were recruited using a questionnaire-based survey. Data were analyzed using the STATA (version 18.0) and R programming language (version 4.3.3).

RESULTS

25% of children aged 6-18 years with PKU exhibited psycho-behavioral problems. Significant factors associated with psycho-behavioral problems in study children included body mass index (multi-adjusted odds ratio, 95% confidence interval, P: 1.135, 1.010-1.276, 0.033), age (3.169, 1.024-9.804, 0.045), pregnancy order (0.143, 0.033-0.607, 0.008), delivery order (0.041, 0.004-0.373, 0.005), mode of disease diagnosis (5.730, 1.935-16.963, 0.002), and dietary therapy pressure (3.321, 1.083-10.181, 0.036). Based on these significant factors, a nomogram model was constructed with descent prediction capability and accuracy.

CONCLUSIONS

We identified six factors closely associated with psycho-behavioral problems in PKU children, offering insights into risk profiles underlying these problems and guiding the formulation of effective prevention strategies.

摘要

背景

苯丙酮尿症（PKU）是一种罕见疾病。被诊断为苯丙酮尿症的儿童经常会遇到心理行为方面的困难，这会对生活质量和社会融入产生重大影响。本研究的目的是评估6至18岁苯丙酮尿症儿童心理行为困难的患病率，并探讨与其发生相关的潜在因素。

方法

2022年5月至2024年5月，采用问卷调查法招募了100名苯丙酮尿症儿童。使用STATA（18.0版）和R编程语言（4.3.3版）对数据进行分析。

结果

6至18岁的苯丙酮尿症儿童中有25%表现出心理行为问题。与研究儿童心理行为问题相关的显著因素包括体重指数（多因素调整比值比，95%置信区间，P：1.135，1.010 - 1.276，0.033）、年龄（3.169，1.024 - 9.804，0.045）、妊娠顺序（0.143，0.033 - 0.607，0.008）、分娩顺序（0.041，0.004 - 0.373，0.005）、疾病诊断方式（5.730，1.935 - 16.963，0.002）和饮食治疗压力（3.321，1.083 - 10.181，0.036）。基于这些显著因素，构建了一个具有良好预测能力和准确性的列线图模型。

结论

我们确定了与苯丙酮尿症儿童心理行为问题密切相关的六个因素，为这些问题背后的风险概况提供了见解，并指导制定有效的预防策略。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a14e/12153110/aff81ebc2fc0/13023_2025_3824_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a14e/12153110/78a94c4446ed/13023_2025_3824_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a14e/12153110/f1426077a225/13023_2025_3824_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a14e/12153110/2d8031ea4050/13023_2025_3824_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a14e/12153110/aff81ebc2fc0/13023_2025_3824_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a14e/12153110/78a94c4446ed/13023_2025_3824_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a14e/12153110/f1426077a225/13023_2025_3824_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a14e/12153110/2d8031ea4050/13023_2025_3824_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a14e/12153110/aff81ebc2fc0/13023_2025_3824_Fig4_HTML.jpg

相似文献

1
Factors associated with psycho-behavioral problems among 100 children with phenylketonuria aged 6-18 years.100名6至18岁苯丙酮尿症患儿心理行为问题的相关因素。
Orphanet J Rare Dis. 2025 Jun 11;20(1):297. doi: 10.1186/s13023-025-03824-y.
2
Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients' and parents' quality of life: the phenylketonuria - quality of life (PKU-QOL) questionnaires.评估苯丙酮尿症及其饮食治疗对患者和家长生活质量影响的测量方法的开发与心理测量学验证：苯丙酮尿症-生活质量（PKU-QOL）问卷
Orphanet J Rare Dis. 2015 May 10;10:59. doi: 10.1186/s13023-015-0261-6.
3
The impact of phenylketonuria on PKU patients' quality of life: Using of the phenylketonuria-quality of life (PKU-QOL) questionnaires.苯丙酮尿症对苯丙酮尿症患者生活质量的影响：使用苯丙酮尿症生活质量（PKU-QOL）问卷。
Clin Nutr ESPEN. 2018 Oct;27:79-85. doi: 10.1016/j.clnesp.2018.06.005. Epub 2018 Jun 29.
4
Dietary treatment in Dutch children with phenylketonuria: An inventory of associated social restrictions and eating problems.荷兰苯丙酮尿症患儿的饮食治疗：相关社会限制和饮食问题的调查。
Nutrition. 2022 May;97:111576. doi: 10.1016/j.nut.2021.111576. Epub 2021 Dec 24.
5
Assessing sleep habits in school-aged children with phenylketonuria: a comparative study.评估苯丙酮尿症学龄儿童的睡眠习惯：一项比较研究。
Eur J Pediatr. 2025 Mar 5;184(3):225. doi: 10.1007/s00431-025-06048-1.
6
Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries.评估苯丙酮尿症及其治疗对来自七个欧洲国家的患者及其父母生活质量的影响。
Orphanet J Rare Dis. 2015 Jun 18;10:80. doi: 10.1186/s13023-015-0294-x.
7
Psychosocial functioning in children with phenylketonuria: Relationships between quality of life and parenting indicators.苯丙酮尿症患儿的心理社会功能：生活质量与养育指标之间的关系。
Child Care Health Dev. 2020 Jan;46(1):56-65. doi: 10.1111/cch.12727. Epub 2019 Dec 11.
8
Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO study.早期治疗苯丙酮尿症患者的心理健康和社会功能：PKU-COBESO 研究。
Mol Genet Metab. 2013;110 Suppl:S57-61. doi: 10.1016/j.ymgme.2013.10.011. Epub 2013 Oct 22.
9
[Assessment of the life quality in children with phenylketonuria].[苯丙酮尿症患儿生活质量评估]
Vestn Ross Akad Med Nauk. 2014(11-12):39-45. doi: 10.15690/vramn.v69i11-12.1181.
10
The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria.荷兰苯丙酮尿症患者早期持续治疗后的生活历程与生活质量
J Inherit Metab Dis. 2007 Feb;30(1):29-34. doi: 10.1007/s10545-006-0433-6. Epub 2006 Dec 11.

本文引用的文献

1
Growth Parameters and Prevalence of Obesity in PKU Patients and Peers: Is This the Right Comparison?苯丙酮尿症患者及其同龄人肥胖的生长参数和患病率：这样比较合适吗？
Pediatr Rep. 2024 Oct 16;16(4):892-901. doi: 10.3390/pediatric16040076.
2
Phenylketonuria from the perspectives of patients in Türkiye.土耳其患者视角下的苯丙酮尿症。
Orphanet J Rare Dis. 2024 Feb 20;19(1):78. doi: 10.1186/s13023-024-03079-z.
3
Recent Advances in Phenylketonuria: A Review.苯丙酮尿症的最新进展：综述
Cureus. 2023 Jun 15;15(6):e40459. doi: 10.7759/cureus.40459. eCollection 2023 Jun.
4
Neuropsychological and quality of life outcomes in PKU patients: expert recommendations of assessment tools in Brazil.苯丙酮尿症患者的神经心理学和生活质量结果：巴西评估工具的专家建议。
Arq Neuropsiquiatr. 2023 Jul;81(7):685-695. doi: 10.1055/s-0043-1768677. Epub 2023 Jun 19.
5
Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria.意大利工作组专家意见：评估儿童、青少年和成年苯丙酮尿症患者的认知、心理和神经发育结局。
Orphanet J Rare Dis. 2022 Dec 21;17(1):443. doi: 10.1186/s13023-022-02488-2.
6
Growth and Nutritional Status of Phenylketonuric Children and Adolescents.苯丙酮尿症患儿和青少年的生长和营养状况。
BMC Pediatr. 2022 Nov 17;22(1):664. doi: 10.1186/s12887-022-03715-2.
7
Genetic etiology and clinical challenges of phenylketonuria.苯丙酮尿症的遗传病因学及临床挑战。
Hum Genomics. 2022 Jul 19;16(1):22. doi: 10.1186/s40246-022-00398-9.
8
Target Diseases for Neonatal Screening in Germany.德国新生儿筛查的目标疾病。
Dtsch Arztebl Int. 2022 Apr 29;119(17):306-316. doi: 10.3238/arztebl.m2022.0075.
9
Is the Phenylalanine-Restricted Diet a Risk Factor for Overweight or Obesity in Patients with Phenylketonuria (PKU)? A Systematic Review and Meta-Analysis.苯丙氨酸限制饮食是否是苯丙酮尿症（PKU）患者超重或肥胖的危险因素？系统评价和荟萃分析。
Nutrients. 2021 Sep 28;13(10):3443. doi: 10.3390/nu13103443.
10
Phenylketonuria.苯丙酮尿症。
Nat Rev Dis Primers. 2021 May 20;7(1):36. doi: 10.1038/s41572-021-00267-0.