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
  • [1] Anxiety in Wiedemann-Steiner syndrome
    Ng, Rowena
    Bjornsson, Hans Tomas
    Fahrner, Jill A.
    Harris, Jacqueline
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2023, 191 (02) : 437 - 444
  • [2] Wiedemann-Steiner syndrome: A case report
    Hirst, Lorna
    Evans, Robert
    CLINICAL CASE REPORTS, 2021, 9 (03): : 1158 - 1162
  • [3] EXPANDING THE PHENOTYPE OF WIEDEMANN-STEINER SYNDROME
    Stevens, C. A.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 179 (04) : 713 - 714
  • [4] WIEDEMANN-STEINER SYNDROME IN DIVERSE POPULATIONS
    Sheppard, S.
    Falk, M.
    McCormick, E.
    Harr, M.
    Zand, D.
    Lindstrom, K.
    Kallish, S.
    Dubbs, H.
    Allain, D.
    Jobling, R.
    Cytrynbaum, C.
    Fong, C. T.
    Schroeder, A.
    Lindstrom, K.
    Stevens, C.
    Dugan, S.
    Hersh, J.
    Slavotinek, A.
    Derar, N.
    Alkuraya, F.
    Sheih, J.
    Gangaram, B.
    Ha, T.
    Au, B.
    Bernstein, J.
    Kravets, E.
    Mcleod, R.
    Innes, M.
    Eaton, A.
    Gripp, K.
    Grand, K.
    Bhoj, E.
    Shachar, S. B.
    Wilnai, Y.
    Mardach, R.
    Kaplan, J.
    Abdulrahman, O.
    Velinov, M.
    Kwok, P-Y
    Rohena, L.
    Beek, G.
    Cohen, J.
    Harris, J.
    Fahrner, J.
    Fatemi, A.
    Bjornsson, H.
    Kodra, N.
    Hauser, N.
    Miller, R.
    Berg, J.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (04) : 934 - 935
  • [5] Wiedemann-Steiner syndrome in two patients from Portugal
    Grangeia, Ana
    Leao, Miguel
    Moura, Carla P.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (01) : 25 - 28
  • [6] Wiedemann-Steiner Syndrome: Three Further Cases
    Koenig, Rainer
    Meinecke, Peter
    Kuechler, Alma
    Schaefer, Dieter
    Mueller, Dietmar
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (09) : 2372 - 2375
  • [7] WIEDEMANN-STEINER SYNDROME IN AFRICAN AMERICAN PATIENTS
    Kaplan, Julie
    Abdul-Rahman, Omar
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018, 176 (06) : 1493 - 1493
  • [8] Feeding disorder in a patient with Wiedemann-Steiner syndrome
    Iijima, Hiroyuki
    Yanagi, Kumiko
    Kaname, Tadashi
    Kubota, Mitsuru
    PEDIATRICS INTERNATIONAL, 2022, 64 (01)
  • [9] A case of Wiedemann-Steiner syndrome with central precocious puberty
    Aoyama, Kohei
    Yoshida, Aya
    Yamaguchi, Naoya
    Suzuki, Atsushi
    Tanaka, Tatsushi
    Saitoh, Shinji
    Mizuno, Haruo
    HORMONE RESEARCH IN PAEDIATRICS, 2019, 91 : 576 - 577
  • [10] Wiedemann-Steiner Syndrome: Case Report and Review of Literature
    Yu, Huan
    Zhang, Guijiao
    Yu, Shengxu
    Wu, Wei
    CHILDREN-BASEL, 2022, 9 (10):