Armstrong-Heimsoth Amy, Monroe Abbey, Cupp Camryn, Potter Nancy, VanDam Mark, Peter Beate
Occupational Therapy, Northern Arizona University, Phoenix, AZ, United States.
College of Health Solutions, Arizona State University, Tempe, AZ, United States.
J Occup Ther Sch Early Interv. 2024;17(2):216-227. doi: 10.1080/19411243.2023.2192206. Epub 2023 Mar 27.
Speech problems affect about 66% of children with classic galactosemia (CG), but little is known about early motor and sensory motor development in this at-risk population (Rubio-Gozalbo et al., 2019). Research has been focused on speech and language development leaving a paucity of data on motor and sensory differences. This paper describes preliminary data regarding sensory motor and motor development patterns in young children with CG. Babble Boot Camp© (BBC) is an NIH-funded randomized control trial (RCT) implementing proactive interventions designed to support the speech language development of infants with CG. Cases were randomly assigned to a motor-first group (Motor Milestones), receiving virtual occupational therapy through 14 months, or a speech-first group, receiving virtual speech therapy through 14 months. All cases received speech and language therapy from 15 to 24 months. Controls, typically developing infants, did not receive occupational therapy or speech therapy. Participants were recruited through social media, advertisements, metabolic clinics, and the Galactosemia Foundation. Infants in the motor milestones group were assessed with the Developmental Assessment of Young Children and Sensory Profile-2 pre-enrollment (< 6 months of age) and post-treatment follow-up at 2.5, 3.5, and 4.5 years of age. Results show that 17.5% of participants with CG had delays in gross motor, 22.5% in fine motor, and 45% in sensory processing. Data from the Motor Milestones portion of BBC is important emerging evidence for occupational therapy in early intervention, preschool, and outpatient settings. This research supports the need for occupational therapy services during early intervention to minimize or prevent long-term motor and sensorimotor delays in infants with CG. Understanding patterns and addressing literature gaps helps support the need for occupational therapists to address motor delays, improve activities of daily living, play, promote functional independence, and provide caregiver education to best support the occupational performance of children with CG.
言语问题影响约66%的经典型半乳糖血症（CG）患儿，但对于这个高危人群的早期运动和感觉运动发育情况却知之甚少（鲁维奥 - 戈萨尔博等人，2019年）。研究一直聚焦于言语和语言发育，导致关于运动和感觉差异的数据匮乏。本文描述了CG幼儿感觉运动和运动发育模式的初步数据。“牙牙学语训练营”（BBC）是一项由美国国立卫生研究院资助的随机对照试验（RCT），实施旨在支持CG婴儿言语语言发育的积极干预措施。病例被随机分配到运动优先组（运动里程碑组），接受为期14个月的虚拟职业治疗，或言语优先组，接受为期14个月的虚拟言语治疗。所有病例在15至24个月期间接受言语和语言治疗。对照组为发育正常的婴儿，不接受职业治疗或言语治疗。参与者通过社交媒体、广告、代谢诊所和半乳糖血症基金会招募。运动里程碑组的婴儿在入组前（<6个月龄）以及2.5岁、3.5岁和4.5岁的治疗后随访时，使用《幼儿发育评估》和《感觉概况 - 2》进行评估。结果显示，17.5%的CG参与者存在大运动发育迟缓，22.5%存在精细运动发育迟缓，45%存在感觉加工障碍。BBC运动里程碑部分的数据是早期干预、学前和门诊环境中职业治疗的重要新证据。这项研究支持在早期干预期间提供职业治疗服务的必要性，以尽量减少或预防CG婴儿的长期运动和感觉运动发育迟缓。了解发育模式并填补文献空白有助于支持职业治疗师解决运动发育迟缓问题、改善日常生活活动、游戏、促进功能独立以及为照顾者提供教育，从而最好地支持CG儿童的职业表现。
