Purpose

To improve our understanding of the behavioral, social, and emotional functioning of children and adolescents with Pompe disease.

Method

Parents/guardians of 21 children (age 5-18y) with infantile (IPD) or late-onset (LOPD) Pompe disease on long-term enzyme replacement therapy completed three standardized checklists regarding their child's behavior: the Child Behavior Checklist (CBCL), Conners 3 Parent (Conners-3), Behavior Rating Inventory of Executive Function-2 (BRIEF2), and a survey of their child's educational services.

Results

Descriptive statistics were used to summarize the findings for each behavior checklist. Age standard scores from each checklist were reported for the IPD (n = 17, 9 females, mean age = 9y, 4 mo; SD = 3y, 8mo) and LOPD (n = 4, 1 female; mean = 11y, 2mo; SD = 2y, 1mo) groups. The majority of children with Pompe exhibited age-appropriate behavior and emotional functioning on these standardized checklists. However, negative mood symptoms, learning problems, decreased participation in structured social activities, and attentional difficulties were more frequently reported in children with IPD in comparison to same-aged peers. Parents of children with LOPD reported fewer problematic behaviors but endorsed negative mood symptoms and difficulties with peer relations. Most children received accommodations in regular education classrooms at school.

Conclusions

These standardized behavior checklists are useful screening tools for the early identification and treatment of behavior, emotional, and social concerns in children with Pompe disease.

中文翻译：

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庞贝病儿童的行为、社会和学校功能。

目的

提高我们对庞贝病儿童和青少年的行为、社会和情感功能的理解。

方法

21 名接受长期酶替代疗法的婴儿 (IPD) 或晚发型 (LOPD) 庞贝病儿童（5-18 岁）的父母/监护人完成了三个关于其孩子行为的标准化检查表：儿童行为检查表 (CBCL)、 Conners 3 Parent (Conners-3)，执行功能行为评估清单 - 2 (BRIEF2)，以及他们孩子的教育服务调查。

结果

描述性统计用于总结每个行为检查表的发现。报告了 IPD（n  = 17，9 名女性，平均年龄 = 9 岁，4 个月；SD = 3 岁，8 个月）和 LOPD（n = 4, 1 女性; 平均值 = 11 年，2 个月；SD = 2y, 1mo) 组。大多数庞贝儿童在这些标准化检查表上表现出适合年龄的行为和情绪功能。然而，与同龄同龄人相比，IPD儿童更常报告消极情绪症状、学习问题、参与结构化社交活动减少和注意力困难。患有 LOPD 的儿童的父母报告的问题行为较少，但赞同消极情绪症状和与同伴关系的困难。大多数孩子在学校的常规教育教室中获得住宿。

结论

这些标准化的行为检查表是有用的筛查工具，可用于早期识别和治疗庞贝病儿童的行为、情绪和社会问题。