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Review
September 2017

Early, Accurate Diagnosis and Early Intervention in Cerebral PalsyAdvances in Diagnosis and Treatment

Author Affiliations
  • 1Cerebral Palsy Alliance, The University of Sydney, Sydney, Australia
  • 2Norwegian University of Science and Technology, St Olavs University Hospital, Trondheim
  • 3Cerebral Palsy Alliance Research Foundation, New York, New York
  • 4The University of Queensland, Brisbane, Australia
  • 5Children’s Medical Center Dallas, Plano, Texas
  • 6Stella Maris Scientific Institute, University of Pisa, Pisa, Italy
  • 7National Institutes of Health, Bethesda, Maryland
  • 8Faculty of Rehabilitation Medicine, University of Alberta, Edmonton, Canada
  • 9Karolinska Institutet, Stockholm, Sweden
  • 10University Medical Centre Utrecht, Utrecht, the Netherlands
  • 11Medical University of Graz, Graz, Austria
  • 12Monash University, Melbourne, Australia
  • 13Holland Bloorview Kids Rehabilitation Hospital, University of Toronto, Toronto, Ontario, Canada
  • 14University of California, San Francisco
  • 15University of Southern California, Los Angeles
  • 16Teachers College, Columbia University, New York, New York
  • 17The Royal Children’s Hospital, Melbourne, Australia
  • 18Department of Pediatrics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
  • 19Duquesne University, Pittsburgh, Pennsylvania
  • 20Makerere University, Kampala, Uganda
  • 21University Children’s Hospital Zurich, Zurich, Switzerland
  • 22Children’s Hospital Westmead, The University of Sydney, Sydney, Australia
  • 23Nationwide Children’s Hospital, The Ohio State University, Columbus
  • 24Newcastle University, Newcastle Upon Tyne, England
  • 25Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli, Università Cattolica del Sacro Cuore, Rome, Italy
  • 26The University of Sydney, Sydney, Australia
  • 27Murdoch Childrens Research Institute, University of Melbourne, Melbourne, Australia
  • 28Princess Margaret Hospital, University of Western Australia, Perth
JAMA Pediatr. 2017;171(9):897-907. doi:10.1001/jamapediatrics.2017.1689
Key Points

Question  What are the most accurate evaluations for diagnosing cerebral palsy early?

Findings  In this systematic review of the literature, we found diagnosis can be accurately made before 6 months’ corrected age. Before 5 months’ corrected age, magnetic resonance imaging plus the General Movements Assessment or the Hammersmith Infant Neurological Examination are recommended; after 5 months’ corrected age, magnetic resonance imaging (where safe and feasible), the Hammersmith Infant Neurological Examination, and the Developmental Assessment of Young Children are recommended.

Meaning  Early diagnosis should be the standard of care because contemporary early interventions optimize neuroplasticity and functional outcomes.

Abstract

Importance  Cerebral palsy describes the most common physical disability in childhood and occurs in 1 in 500 live births. Historically, the diagnosis has been made between age 12 and 24 months but now can be made before 6 months’ corrected age.

Objectives  To systematically review best available evidence for early, accurate diagnosis of cerebral palsy and to summarize best available evidence about cerebral palsy–specific early intervention that should follow early diagnosis to optimize neuroplasticity and function.

Evidence Review  This study systematically searched the literature about early diagnosis of cerebral palsy in MEDLINE (1956-2016), EMBASE (1980-2016), CINAHL (1983-2016), and the Cochrane Library (1988-2016) and by hand searching. Search terms included cerebral palsy, diagnosis, detection, prediction, identification, predictive validity, accuracy, sensitivity, and specificity. The study included systematic reviews with or without meta-analyses, criteria of diagnostic accuracy, and evidence-based clinical guidelines. Findings are reported according to the PRISMA statement, and recommendations are reported according to the Appraisal of Guidelines, Research and Evaluation (AGREE) II instrument.

Findings  Six systematic reviews and 2 evidence-based clinical guidelines met inclusion criteria. All included articles had high methodological Quality Assessment of Diagnostic Accuracy Studies (QUADAS) ratings. In infants, clinical signs and symptoms of cerebral palsy emerge and evolve before age 2 years; therefore, a combination of standardized tools should be used to predict risk in conjunction with clinical history. Before 5 months’ corrected age, the most predictive tools for detecting risk are term-age magnetic resonance imaging (86%-89% sensitivity), the Prechtl Qualitative Assessment of General Movements (98% sensitivity), and the Hammersmith Infant Neurological Examination (90% sensitivity). After 5 months’ corrected age, the most predictive tools for detecting risk are magnetic resonance imaging (86%-89% sensitivity) (where safe and feasible), the Hammersmith Infant Neurological Examination (90% sensitivity), and the Developmental Assessment of Young Children (83% C index). Topography and severity of cerebral palsy are more difficult to ascertain in infancy, and magnetic resonance imaging and the Hammersmith Infant Neurological Examination may be helpful in assisting clinical decisions. In high-income countries, 2 in 3 individuals with cerebral palsy will walk, 3 in 4 will talk, and 1 in 2 will have normal intelligence.

Conclusions and Relevance  Early diagnosis begins with a medical history and involves using neuroimaging, standardized neurological, and standardized motor assessments that indicate congruent abnormal findings indicative of cerebral palsy. Clinicians should understand the importance of prompt referral to diagnostic-specific early intervention to optimize infant motor and cognitive plasticity, prevent secondary complications, and enhance caregiver well-being.

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