Diagnostic approach to paediatric movement disorders: a clinical practice guide.
Rick Brandsma, Martje E van Egmond, Marina A J Tijssen
PMID 33150968WHAT IT FOUND
This guide outlines a step-by-step clinical algorithm for diagnosing paediatric movement disorders.
It prioritizes distinguishing normal developmental patterns from pathology, classifying the specific movement phenotype, and ruling out functional disorders before initiating genetic or metabolic testing.
Key findings
01The diagnostic process begins by distinguishing physiological developmental motor patterns (which subside with age) from pathological movement disorders.
02Functional movement disorders should be diagnosed positively based on history and exam features like distractibility and entrainment, rather than by exclusion.
03Genetic testing via Next Generation Sequencing has a current diagnostic yield of only 15% to 40% and misses trinucleotide repeat disorders and mitochondrial DNA mutations.
STILL TO COME
How it was doneWhat they foundWhat it means for PTsWhat it means for OTsWhat it means for SLPs
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What it does not show
This is an expert consensus guideline, not a study with empirical data on diagnostic accuracy or patient outcomes. The diagnostic yield of genetic testing (15-40%) means a negative result does not rule out a genetic cause. The guide notes that clinical syndromes in children are often less distinct than in adults, making the algorithm's application complex in practice.
The easy way to misread this
Do not assume a negative genetic test rules out a movement disorder. The guide states that Next Generation Sequencing misses trinucleotide repeat disorders (like Friedreich ataxia) and mitochondrial DNA mutations, and has a diagnostic yield of only 15% to 40%.