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

作者信息

Mendoza Carmel

机构信息

Transitional Doctor of Physical Therapy Program, College of Saint Scholastica, Duluth, Minnesota.

出版信息

Pediatr Phys Ther. 2020 Jul;32(3):E64-E69. doi: 10.1097/PEP.0000000000000714.

DOI:10.1097/PEP.0000000000000714
PMID:32604375
Abstract

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.Video Abstract: For more insights from the authors, access Supplemental Digital Content 1, available at: http://links.lww.com/PPT/A292.

摘要

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引用本文的文献

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Children (Basel). 2022 Oct 12;9(10):1545. doi: 10.3390/children9101545.
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Wiedemann-Steiner Syndrome: A Rare Differential Diagnosis of Neurodevelopmental Delay and Dysmorphic Features.维德曼-施泰纳综合征:神经发育迟缓及畸形特征的一种罕见鉴别诊断。
J Pediatr Genet. 2020 Sep 23;11(2):162-164. doi: 10.1055/s-0040-1716709. eCollection 2022 Jun.