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
相关论文
共 50 条
  • [21] Wiedemann-Steiner Syndrome with a 2-Year Follow-Up
    Mohamadi, Mohamad Hosein
    Mobini, Moein
    Vakili, Saba
    Vakili, Rahim
    INTERNATIONAL JOURNAL OF PEDIATRICS-MASHHAD, 2022, 10 (10): : 16908 - 16913
  • [22] Two cases of Wiedemann-Steiner syndrome including novel gene mutation
    Jung, Soyoon
    HORMONE RESEARCH IN PAEDIATRICS, 2023, 96 : 532 - 532
  • [23] Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients
    Niu Li
    Yirou Wang
    Yu Yang
    Pengpeng Wang
    Hui Huang
    Shiyi Xiong
    Luming Sun
    Min Cheng
    Cui Song
    Xinran Cheng
    Yu Ding
    Guoying Chang
    Yao Chen
    Yufei Xu
    Tingting Yu
    Ru-en Yao
    Yiping Shen
    Xiumin Wang
    Jian Wang
    Orphanet Journal of Rare Diseases, 13
  • [24] Wiedemann-Steiner syndrome: clinical and molecular characterization of six Brazilian patients
    dos Santos, Ana Mondadori
    Bruzaca, Caio Graco
    Bonadia, Luciana Cardoso
    Bertuzzo, Carmen Silvia
    Consortium, Rare Genomes Project
    Steiner, Carlos Eduardo
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1538 - 1538
  • [25] Impaired Math and Spatial Skills Among Individuals With Wiedemann-Steiner Syndrome
    Ng, R.
    Bjornsson, H. T.
    Fahrner, J. A.
    Harris, J.
    CLINICAL NEUROPSYCHOLOGIST, 2022, 36 (04) : 756 - 756
  • [26] Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients
    Li, Niu
    Wang, Yirou
    Yang, Yu
    Wang, Pengpeng
    Huang, Hui
    Xiong, Shiyi
    Sun, Luming
    Cheng, Min
    Song, Cui
    Cheng, Xinran
    Ding, Yu
    Chang, Guoying
    Chen, Yao
    Xu, Yufei
    Yu, Tingting
    Yao, Ru-en
    Shen, Yiping
    Wang, Xiumin
    Wang, Jian
    ORPHANET JOURNAL OF RARE DISEASES, 2018, 13
  • [27] Wiedemann-Steiner Syndrome: A Rare Differential Diagnosis of Neurodevelopmental Delay and Dysmorphic Features
    Carman, Kursat Bora
    Kaplan, Emre
    Aslan, Cefa Nil
    Kocagil, Sinem
    Cilinigr, Oguz
    Yarar, Coskun
    JOURNAL OF PEDIATRIC GENETICS, 2022, 11 (02) : 162 - 164
  • [28] A de novo mutation of ADAMTS8 in a patient with Wiedemann-Steiner syndrome
    Wang, Sifeng
    Yan, Shuyuan
    Xiao, Jingjun
    Chen, Ying
    Chen, Anji
    Deng, Aimin
    Wang, Tuanmei
    He, Jun
    Peng, Xiangwen
    MOLECULAR CYTOGENETICS, 2023, 16 (01)
  • [29] Clinical and molecular spectrum of Wiedemann-Steiner syndrome,an emerging member of the chromatinopathy family
    Paolo Fontana
    Francesco Fioravanti Passaretti
    Marianna Maioli
    Giuseppina Cantalupo
    Francesca Scarano
    Fortunato Lonardo
    World Journal of Medical Genetics, 2020, (01) : 1 - 11
  • [30] Sleep disturbances correlate with behavioral problems among individuals with Wiedemann-Steiner syndrome
    Ng, Rowena
    Bjornsson, Hans Tomas
    Fahrner, Jill A. A.
    Harris, Jacqueline
    FRONTIERS IN GENETICS, 2022, 13