获得治疗在诊断为cask基因相关残疾儿童中的临床应用

0 REHABILITATION
Advances in rehabilitation science and practice Pub Date : 2024-11-27 eCollection Date: 2024-01-01 DOI:10.1177/27536351241302852
Dory A Wallace, Mary Rebekah Trucks, Stephanie C DeLuca
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引用次数: 0

摘要

目的:报告基于临床发现的实践证据,其中一种称为ACQUIRE疗法的强化治疗方法被用作诊断为CASK突变的儿童的康复/适应工具。治疗的实施以学习原则为基础,并以强化治疗中经常使用的治疗框架为指导。设计:临床队列。环境:自然环境(如家一样的环境)。参与者:共20名女性,12 ~ 128个月,平均年龄44.75岁(SD = 31.64)。干预:训练有素的职业治疗师在4周内提供平均64.06小时(SD = 12.91)的高剂量康复治疗。习得治疗的目标是跨领域干预目标,通常与执行控制和实践有关。主要结局指标:临床数据来自以下来源;治疗师每日治疗记录(如治疗目标、录像、每日治疗记录和出院记录)。结果:所有患儿接受性沟通均有改善。最常见的运动技能改善发生在躯干控制方面,33%的儿童有这种改善;其次是总接触能力21%的儿童;精细运动技能占19%;头部控制15%;流动性为12%。所有儿童的认知-运动配对技能均有记录。结论:在为cask基因突变和其他形式的全球发育迟缓儿童提供治疗服务时,需要考虑诊断特异性干预目标(如注意力和认知配对技能)。注册日期:2013年5月1日。试验日期:2014年12月和2023年10月。https://clinicaltrials.gov/study/NCT03325946?locStr=Roanoke, % 20 va&country = % 20联合状态和状态=弗吉尼亚市= Roanoke&cond =脑% 20 palsy&intr =密集% 20 therapy&rank = 2。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Clinical use of ACQUIRE Therapy for Children Diagnosed With CASK-Gene Related Disabilities.

Clinical use of ACQUIRE Therapy for Children Diagnosed With CASK-Gene Related Disabilities.

Clinical use of ACQUIRE Therapy for Children Diagnosed With CASK-Gene Related Disabilities.

Clinical use of ACQUIRE Therapy for Children Diagnosed With CASK-Gene Related Disabilities.

Objective: To report practice based evidence built on clinical findings where an intensive therapeutic approach called ACQUIRE Therapy was used as a rehabilitation/habilitation tool for children diagnosed with CASK mutations. ACQUIRE Therapy delivery is based on principles of learning and guided by a therapeutic framework often used in the delivery of intensive therapy.

Design: Clinical Cohort.

Setting: Natural environments (eg, home-like environment).

Participants: A total of 20 females, 12 to 128 months, mean age = 44.75 (SD = 31.64).

Intervention: Trained Occupational therapists delivered high-dosage rehabilitation for an average of 64.06 hours (SD = 12.91) across 4 weeks. ACQUIRE Therapy targeted cross-domain intervention targets often associated with executive control and praxis.

Main outcome measures: Clinical data was examined from the following sources; therapist daily treatment documentation (eg, therapy goals, video recordings, daily therapy logs, and discharge documentation).

Results: Receptive communication improved in all children. The most common motor skill improvements occurred in trunk control occurring in 33% of children; followed by, gross reaching abilities in 21% of children; fine-motor skills in 19%; head control in 15%; and mobility in 12%. Documentation of cognitive-motor pairing of skills was documented in all children.

Conclusions: Diagnosis specific intervention targets (eg, attention and cognitive-pairing skills) need to be considered when providing therapeutic services to children with CASK-gene mutations and other forms of Global Developmental Delay.Clinicaltrials.gov registration number is NCT03325946. Date of registration: 1 May 2013. Trial Dates: December 2014 and October 2023. https://clinicaltrials.gov/study/NCT03325946?locStr=Roanoke,%20VA&country=United%20States&state=Virginia&city=Roanoke&cond=Cerebral%20Palsy&intr=Intensive%20therapy&rank=2.

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