Trouble with ataxia: A longitudinal qualitative study of the diagnosis and medical management of a group of rare, progressive neurological conditions

SAGE Open Medicine
Gavin Daker-WhiteKatherine Payne

Abstract

An exploratory investigation of diagnosis and management in progressive ataxias: rare neurological conditions usually affecting balance, mobility and speech. A longitudinal qualitative study into the experiences of people with ataxia and neurologists. Thematic analysis and follow-up interviews were used to determine diagnosis and management issues over time. People with ataxia recruited via two hospital departments and Ataxia UK were interviewed at baseline (n = 38) and 12-month follow-up (n = 31). Eight consultant neurologists were interviewed once. Patient accounts were diverse, but many expressed frustration at having an incurable condition and dissatisfaction with service outcomes. At follow-up, there was variation in their contact and satisfaction with helping agencies. Service issues regarding continuity of care and the primary/secondary care interface were evident. Neurologists' accounts also varied. One-half reported that there is nothing that can be done, and one-half favoured specialist referral to increase the likelihood of finding an underlying aetiology within budget constraints. Diagnostic uncertainties existing at baseline remained for patients at follow-up interviews, although some had learned to deal with the u...Continue Reading

References

Jan 1, 1987·Social Science & Medicine·M I Boutté
Jan 13, 2006·Psychological Medicine·Marcus J H Huibers, Simon Wessely
Jan 6, 2007·Clinical Genetics·E BrusseJ C van Swieten
Jun 12, 2008·Movement Disorders : Official Journal of the Movement Disorder Society·Marios HadjivassiliouG Aelwyn B Davies-Jones
Jan 29, 2011·Chronic Illness·Gavin Daker-WhiteKatherine Payne
Feb 9, 2011·Social Science & Medicine·John GardnerLindsay Macdonald
Apr 25, 2012·Current Neurology and Neuroscience Reports·Anna Sailer, Henry Houlden
Oct 26, 2012·Health Expectations : an International Journal of Public Participation in Health Care and Health Policy·Gavin Daker-WhiteCaroline Sanders
Sep 5, 2013·Disability and Rehabilitation·Gavin Daker-WhiteRona Campbell

❮ Previous
Next ❯

Citations

Feb 23, 2019·Orphanet Journal of Rare Diseases·Rajith de SilvaPaola Giunti
Jan 23, 2018·Nature Reviews. Genetics·Katherine PayneAlexander J Thompson
Apr 4, 2021·Neurología : publicación oficial de la Sociedad Española de Neurología·I Rouco AxpeE Izarzugaza Iturrizar

❮ Previous
Next ❯

Software Mentioned

ti
ATLAS

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.