People with neuropsychiatric symptoms often experience delay in accurate diagnosis. Although cerebrospinal fluid neurofilament light (CSF NfL) shows promise in distinguishing neurodegenerative disorders (ND) from psychiatric disorders (PSY), its accuracy in a diagnostically challenging cohort longitudinally is unknown.

We collected longitudinal diagnostic information (mean = 36 months) from patients assessed at a neuropsychiatry service, categorising diagnoses as ND/mild cognitive impairment/other neurological disorders (ND/MCI/other) and PSY. We pre-specified NfL > 582 pg/mL as indicative of ND/MCI/other.

Diagnostic category changed from initial to final diagnosis for 23% (49/212) of patients. NfL predicted the final diagnostic category for 92% (22/24) of these and predicted final diagnostic category overall (ND/MCI/other vs. PSY) in 88% (187/212), compared to 77% (163/212) with clinical assessment alone.

CSF NfL improved diagnostic accuracy, with potential to have led to earlier, accurate diagnosis in a real-world setting using a pre-specified cut-off, adding weight to translation of NfL into clinical practice.

We undertook a rapid review of literature relating to the diagnosis of blood cancers, to find out what factors contribute to delays in diagnosis, including symptom recognition, appraisal and help-seeking behaviours.

We used rapid review methodology following Tricco et al. to synthesise current literature from two electronic databases. We searched for studies about symptom appraisal help-seeking for all blood cancers published between 2001 and 2021, written in English.

Fifteen studies were included in the review, of which 10 were published in the United Kingdom. We found a number of factors associated with delays in blood cancer diagnosis. These included patient factors such as gender, age and ethnicity, as well as health system factors such as poor communication and seeing a locum clinician in primary care. A narrative synthesis of the evidence produced four types of symptom interpretation by patients: (1) symptoms compatible with normal state of health, (2) event-linked problems, (3) mild or chronic illness and (4) non-specific unwell state. These four interpretations were linked to different help-seeking behaviours. After seeking help, patients often experienced delays due to healthcare professionals’ (HCPs’) non-serious interpretation of symptoms, misleading blood tests, discontinuity of care and other barriers in the diagnostic pathway.

Blood cancers are difficult to diagnose due to non-specific heterogeneous symptoms, and this is reflected in how those symptoms are interpreted by patients and managed by HCPs. It is important to understand how different interpretations affect delays in help-seeking, and what HCPs can do to support timely follow-up for patients.

Diagnostic delay in amyotrophic lateral sclerosis (ALS) is common. In a recent Canadian study evaluating provincial differences in care, Saskatchewan had the longest delay at 27 months. Since Saskatchewan has a large rural population, this study sought to determine whether geographically determined access to a neurologist at tertiary centers could be contributing to this lengthy delay.

A retrospective chart review of 171 patients seen in the ALS clinic in Saskatoon, Saskatchewan was performed. Urban or rural location, distance from nearest tertiary center, and clinically relevant data were collected.

There was no difference between urban and rural populations for delay in symptom onset to diagnosis. For rural patients, linear regression modeling did not uncover a significant relationship between distance from tertiary center and time to diagnosis. Additionally, there were no differences between urban and rural dwellers either for referral or utilization of feeding tube, noninvasive ventilation, riluzole, or communication devices. Contrary to the previous data showing a 27-month diagnostic delay in Saskatchewan, our study which included a larger provincial population found the mean diagnostic delay was 16.6 months.

This study did not uncover differences in diagnostic delay or ALS care between urban and rural dwellers. Further study is required to determine reproducibility of results.

The extent to which specific factors influence diagnostic delays in dementia is unclear. Therefore, the aim of the present study was to compare duration from symptom onset to diagnosis for young-onset dementia (YOD) and late-onset dementia (LOD) and to assess the effect of age at onset, type of dementia, gender, living situation, education and family history of dementia on this duration.

Data on 235 YOD and 167 LOD patients collected from caregivers from two prospective cohort studies were used. Multiple linear regression analysis was performed.

The duration between symptom onset and the diagnosis of YOD exceeded that of LOD by an average of 1.6 years (2.8 v. 4.4 years). Young age and being diagnosed with frontotemporal dementia were related to increases in the time to diagnosis. Subjects with vascular dementia experienced shorter time to diagnosis.

There is a need to raise special awareness of YOD to facilitate a timely diagnosis.