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Physical Therapy Management of Wiedemann-Steiner Syndrome From Birth to 3 Years
1Transitional Doctor of Physical Therapy Program, College of Saint Scholastica, Duluth, Minnesota.
Insights
Wiedemann-Steiner syndrome (WSS) is linked to hypotonia and developmental delays. Early physical therapy intervention is crucial for managing motor delays in children with WSS.
Area of Science:
- Neurology
- Pediatrics
- Genetics
Background:
- Wiedemann-Steiner syndrome (WSS) is a rare genetic disorder.
- It is characterized by distinct facial features, intellectual disability, and developmental delays.
Observation:
- A case study of a 36-month-old child with WSS highlights the impact of early intervention.
- The child received physical therapy (PT) starting at 2 months, with orthotics and treadmill training introduced later.
- Despite consistent motor delays (-2 SD), the child achieved developmental milestones like rolling, sitting, standing, and walking.
Findings:
- WSS is highly correlated with hypotonia (57% of cases) and developmental delay (90% of cases).
- Early intervention PT programs are essential for addressing motor delays and functional impairments in WSS.
- Functional achievement is a more appropriate measure of progress than norm-referenced outcomes for these children.
Implications:
- This study underscores the importance of early and consistent physical therapy for children diagnosed with Wiedemann-Steiner syndrome.
- It suggests a shift in outcome measurement towards functional gains rather than standardized scores.
- Early intervention can significantly improve motor function and developmental trajectories in WSS patients.
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.
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