Physical Therapy Management of Wiedemann-Steiner Syndrome From Birth to 3 Years

被引:3
|
作者
Mendoza, Carmel [1 ]
机构
[1] Coll St Scholast, Phys Therapy Program, Duluth, MN 55811 USA
关键词
developmental delay; hypotonia; physical therapy; Wiedemann-Steiner syndrome; DE-NOVO MUTATION; PATHOGENIC VARIANT; KMT2A; MLL; IMMUNODEFICIENCY; DEFICIENCY; PHENOTYPE; CHILDREN; DELAY; AGE;
D O I
10.1097/PEP.0000000000000714
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Purpose: To investigate Wiedemann-Steiner syndrome (WSS), its correlation to hypotonia and developmental delay, and to determine the relative intervention strategies that may be useful during early intervention from birth to 3 years. Methods: A literature search using PEDro and PubMed was conducted using key words "Wiedemann-Steiner syndrome," "hypotonia," and "developmental delay" and a case study is presented. Results: A 36-month-old child with WSS received PT intervention beginning at 2 months old. Addition of orthotics and treadmill walking was added at 13 and 19 months, respectively. The child progressed through developmental sequences from rolling, sitting, standing, and walking although consistently scored with motor delay of -2 SD. Conclusions: Fifty-seven percent of children diagnosed with WSS have hypotonia, and 90% have developmental delay. The diagnosis of WSS should require physical therapy services through early intervention programs due to its high correlation with motor developmental delay and disability. Determination of progress should be measured with achievement of function rather than norm-referenced outcome measures.
引用
收藏
页码:E64 / E69
页数:6
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