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Variability in Cerebral Palsy Diagnosis.

Bhooma R Aravamuthan1, Darcy Fehlings2, Sheetal Shetty3

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|January 6, 2021
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Summary

Diagnostic variability exists for cerebral palsy (CP), particularly in cases involving genetic causes or hypotonia. This inconsistency impacts patient understanding and care access, highlighting the need for a clearer CP definition.

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Area of Science:

  • Neurology
  • Pediatrics
  • Genetics

Background:

  • Cerebral palsy (CP) is the leading cause of childhood motor disability.
  • Diagnostic variability in CP arises from genetic factors, inclusion of hypotonic CP, and multidisciplinary involvement.
  • This variability can negatively impact patient comprehension and healthcare access.

Purpose of the Study:

  • To assess the presence and extent of practice variability in diagnosing cerebral palsy.
  • To identify specific scenarios contributing to diagnostic inconsistencies in CP.

Main Methods:

  • A survey was distributed to physicians in the US and Canada.
  • Physicians were members of relevant professional organizations (American Academy of Cerebral Palsy and Developmental Medicine, Child Neurology Society).
  • The survey utilized the 2007 consensus definition of CP and four hypothetical case scenarios.

Main Results:

  • A 47% response rate (330/695 physicians) was achieved.
  • Consensus was reached for typical spastic diplegia cases (diagnosed by 96%) and progressive spastic diplegia (not diagnosed by 92%).
  • Significant variability was observed in diagnosing CP for nonprogressive motor disabilities due to genetic etiologies (46-67%) or hypotonia (46-67%).

Conclusions:

  • Practice variability exists in diagnosing CP for nonprogressive motor disabilities linked to genetic causes or hypotonia.
  • This variability persists despite using the 2007 consensus definition.
  • Clarifying the consensus definition is recommended to reduce diagnostic variability in cerebral palsy.