title: Delayed diagnosis in ALS: the problem continues.
abstract: We studied the limitations to early diagnosis in amyotrophic lateral sclerosis (ALS). The diagnostic process was assessed in 120 consecutive patients, including onset, interval to diagnosis, investigations, specialist assessment and pre-diagnostic management. Times from onset to first consultation (T1), second consultation (T2) and diagnosis (TD) were considered. Predictors of diagnostic delay were determined by multivariate logistic regression, adjusted for gender, age, clinical manifestations, and specialism of the first and second consultants. There were 101 consecutive ALS patients with complete datasets (69% men; median age at diagnosis 61.5 years). The mean TD and median TD were respectively 10.1 and 9.5 months. In 55%, the first consultant was a general practitioner (GP), in 16% a neurologist and in 14% an orthopedist. The diagnosis of ALS was made by non-neurologists in 9 patients. The odds of delayed diagnosis (≥ 12 months) were higher (1.56; 0.19-12.56) in younger patients (≤ 45 years) (p<0.05). Female gender (0.56; 0.29-1.70) and bulbar-onset (0.56; 0.29-1.70) were independently associated with earlier diagnosis (p<0.05). Assessment by a neurologist at the first (0.32; 0.19-2.46) or second consultation (0.87; 0.21-1.21) was associated with a shorter diagnosis time (< 12 months) (p<0.05). We conclude that diagnostic delay mainly resulted from delayed referral from non-neurologist physicians to a neurologist. Moreover, incomplete neurophysiological investigation had a relevant impact.
authors: Department of Neurology, Hospital de Faro, Centro Hospitalar do Algarve EPE, Algarve, Portugal.
authors: Hipolito
authors: H
authors: Nzwalo
authors: Department of Statistics, Faculty of Sciences, University of Lisbon, Lisbon, Portugal.
authors: Daisy
authors: D
authors: de Abreu
authors: Department of Neurology, Royal London Hospital, UK; Translational Clinical Physiology Unit, Instituto de Medicina Molecular, Institute of Physiology, Faculty of Medicine, University of Lisbon, Portugal; Barts and the London School of Medicine, Queen Mary University of London, UK.
authors: Michael
authors: M
authors: Swash
authors: Translational Clinical Physiology Unit, Instituto de Medicina Molecular, Institute of Physiology, Faculty of Medicine, University of Lisbon, Portugal.
authors: Susana
authors: S
authors: Pinto
authors: Translational Clinical Physiology Unit, Instituto de Medicina Molecular, Institute of Physiology, Faculty of Medicine, University of Lisbon, Portugal; Department of Neurosciences, Hospital de Santa Maria-CHLN, Lisbon, Portugal. Electronic address: mamedemg@gmail.com.
authors: Mamede
authors: M
authors: de Carvalho
mesh_terms: D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis*; D057210:Delayed Diagnosis / Q000706:statistics & numerical data; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D012017:Referral and Consultation / Q000706:statistics & numerical data; D013997:Time Factors
keywords: Amyotrophic lateral sclerosis; Diagnosis delay; General practitioner; Motor neuron disease; Neurologist