Twenty Months to a Diagnosis of Amyotrophic Lateral Sclerosis: A Narrative Review of Diagnostic Delay and Communicating the Diagnosis
DOI:
https://doi.org/10.5281/zenodo.22237641Keywords:
Amyotrophic Lateral Sclerosis, Diagnostic Delay, Referral Pathway, Breaking Bad News, Multidisciplinary CareAbstract
Amyotrophic lateral sclerosis takes about a year to diagnose in a disease that kills within three to five. The delay therefore
consumes a substantial fraction of the illness, and unlike most diagnostic delays it cannot be recovered by treating sooner,
because there is little treatment to bring forward.
Objectives: To review the published evidence on diagnostic delay in amyotrophic lateral sclerosis: how long it is, where in the
pathway it accrues, why it has not improved, what is actually lost by it, and what is known about communicating the diagnosis
once it is made.
Material and Methods: Narrative review of multicentre cohorts, retrospective analyses of diagnostic pathways, literature reviews
and studies of diagnosis disclosure indexed in PubMed and the major neurology and neuromuscular journals. No new patient
data were generated; every estimate quoted is one published by the original investigators.
Results: Median time from symptom onset to diagnosis was 11 months in a tertiary cohort of 260 patients and 11 months in a
four-country cohort of 1405 patients, with literature reviews reporting a range of 10 to 16 months. In a French centre cohort of
90 patients, mean delay was 17 months and median 12, comprising 2.7 months from first symptom to first consultation with a
general practitioner and a further 6.5 months before the first neurologist visit. Only 38.8 per cent of patients had seen a
neurologist before diagnosis in one series.
Conclusion: The delay is stable across countries and decades and is concentrated in the interval before neurological assessment.
Because disease-modifying options are limited, the argument for shortening it rests on access to multidisciplinary care,
respiratory support, trial eligibility and time to plan, rather than on treatment that works better when started earlier.
Abbreviations: ALS – Amyotrophic Lateral Sclerosis, DiDe – Diagnostic Delay, EMG – Electromyography, GP – General
Practitioner, MND – Motor Neuron Disease, NIV – Non-Invasive Ventilation.
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