A clinical series using intensive neurorehabilitation to promote functional motor and cognitive skills in three girls with CASK mutation.
A clinical series using intensive neurorehabilitation to promote functional motor and cognitive skills in three girls with CASK mutation.
复制标题
DOI：
10.1186/s13104-017-3065-z
复制
发表时间：
2017-12-19
影响因子：
1.8
通讯作者：
Mukherjee, Konark
中科院分区：
文献类型：
--
作者：
DeLuca, Stephanie C;Wallace, Dory A;Mukherjee, Konark
目标：患有小头畸形的儿童面临终生的精神运动、认知和沟通技能障碍。小头畸形的病因多种多样，但临床表现通常包括癫痫发作、肌张力减退、共济失调、刻板动作、注意力缺陷、兴奋性、认知迟缓和沟通能力差。分子诊断已经超过了现有的干预措施，大多数儿童接受一般的物理、言语和职业治疗，但很少关注这些治疗的功效。 X 连锁智力障碍基因 (XLID) CASK 突变是与小头畸形相关的一种病因，可导致智力低下以及伴有脑桥和小脑发育不全的小头畸形 (MICPCH；OMIM# 300749)。我们对三名患有 CASK 和 MICPH 基因杂合突变的女孩进行了强化治疗的试点测试。孩子A=54个月；孩子B=89个月； C=24 个月的儿童接受了针对性治疗，以提高粗大/精细运动技能、视觉运动协调、社交互动和沟通。每个工作日治疗 4 小时，共 10 个治疗天。操作培训促进/细化目标导向的活动。在治疗前和治疗后进行皮博迪发育运动量表 2。 结果：儿童 A 获得了 14 个月的发育个月；孩子 B 获得了 20 个发育个月；孩子 C 获得了 39 个月的发育个月。该病例系列表明，患有 MICPCH 的儿童对旨在提高功能技能/独立性的强化治疗有反应。试验注册 ClinicalTrials.gov 注册号：NCT03325946；发布日期：2017 年 10 月 30 日。
OBJECTIVES: Children with microcephaly face lifelong psychomotor, cognitive, and communications skills disabilities. Etiology of microcephaly is heterogeneous but presentation often includes seizures, hypotonia, ataxia, stereotypic movements, attention deficits, excitability, cognitive delays, and poor communication skills. Molecular diagnostics have outpaced available interventions and most children receive generic physical, speech, and occupational therapies with little attention to the efficacy of such treatments. Mutations in the X-linked intellectual disability gene (XLID) CASK is one etiology associated with microcephaly which produces mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH; OMIM# 300749). We pilot-tested an intensive therapy in three girls with heterozygous mutation in the gene CASK and MICPCH. Child A=54months; Child B=89months; and Child C=24months received a targeted treatment to improve gross/fine motor skills, visual-motor coordination, social interaction, and communication. Treatment was 4h each weekday for 10 treatment days. Operant training promoted/refined goal-directed activities. The Peabody Developmental Motor Scales 2 was administered pre- and post-treatment.RESULTS: Child A gained 14 developmental months; Child B gained 20 developmental months; and Child C gained 39 developmental months. This case series suggests that children with MICPCH are responsive to intensive therapy aimed at increasing functional skills/independence. Trial Registration ClinicalTrials.gov Registration Number: NCT03325946; Release Date: October 30, 2017.