How the coronavirus pandemic affected the lives of people with ALS and their spouses in the UK from spouses’ perspectives: A qualitative study

Objective:This study set out to investigate using qualitative methodology the experiences of spouses of people with Amyotrophic Lateral Sclerosis (ALS) during the coronavirus pandemic, with particular focus on spouse distress and cognitive and behavioural change in people with ALS (pwALS). Methods:Qualitative semi-structured interviews of nine spouses of pwALS living in England were conducted between 11/09/2020 and 20/04/2021, focusing on spouses’ perspectives of how their lives and the lives of pwALS were affected by the pandemic and related lockdowns. Interviews were subject to thematic analysis.Results: Four superordinate themes were identified from the spouses’ interviews: i) pandemic behaviours, which encompassed accounts of cautious behaviour, relaxation of cautious behaviour, and other people’s attitudes to shielding the person with ALS; ii) changes to daily life caused by the pandemic and progression of ALS; iii) distress in spouses, which included anxiety, depression, and burden; and iv) ALS-related behavioural impairment. Spouses also provided mixed accounts of telehealth care, pointing out its convenience but some felt that face-to-face appointments were preferable.Conclusions:While many reactions to the pandemic reported by spouses of pwALS may have been similar to those of the general population or other vulnerable groups, interviews indicated the potential for the pandemic to have made more apparent certain aspects of behavioural change in pwALS with which carers may require support. Clinicians need to acknowledge spouses’ concerns about the potential limitations of remote clinical consultations, enquire about cognitive and behavioural change, and consider how input should be best provided in such limiting circumstances. <br/

What is the extent of reliability and validity evidence for screening tools for cognitive and behavioural change in people with ALS? A systematic review

Objective: This systematic review provides an updated summary of the existing literature on the validity of screening tools for cognitive and behavioural impairment in people with Amyotrophic Lateral Sclerosis (pwALS), and also focuses on their reliability. Method: The following cognitive and behavioural screening tools were assessed in this review: the Edinburgh Cognitive and Behavioural ALS Screen (ECAS); the ALS Cognitive Behavioural Screen (ALS-CBS), the Mini Addenbrooke’s Cognitive Examination (Mini-ACE), the Beaumont Behavioural Interview (BBI); the MND Behaviour Scale (MiND-B); and the ALS-FTD Questionnaire (ALS-FTD-Q). A search, using Medline, PsychINFO and Embase (21/09/2023), generated 37 results after exclusion criteria were applied. Evidence of internal consistency, item-total correlations, inter-rater reliability, clinical validity, convergent validity, and structural validity were extracted and assessed and risk of bias was evaluated. Results: The cognitive component of the ECAS was the tool with most evidence of reliability and validity for the assessment of cognitive impairment in ALS. It is well-suited to accommodate physical symptoms of ALS. For behavioural assessment, the BBI or ALS-FTD-Q had the most evidence of reliability and validity. The BBI is more thorough, but the ALS-FTD-Q is briefer. Conclusions: There is good but limited evidence for the reliability and validity of cognitive and behavioural screens. Further evidence of clinical and convergent validity would increase confidence in their clinical and research use. <br/

Does genetic anticipation occur in familial Alexander disease?

Alexander Disease (AxD) is a rare leukodystrophy caused by missense mutations of glial fibrillary acidic protein (GFAP). Primarily seen in infants and juveniles, it can present in adulthood. We report a family with inherited AxD in which the mother presented with symptoms many years after her daughter. We reviewed the age of onset in all published cases of familial AxD and found that 32 of 34 instances of parent–offspring pairs demonstrated an earlier age of onset in offspring compared to the parent. We suggest that genetic anticipation occurs in familial AxD and speculate that genetic mosaicism could explain this phenomenon