Quality of life and neurological disability in children and young people with ataxia telangiectasia

McGlashan, Hannah L.; Blanchard, Caroline; Luscombe, Celia; Prasad, Manish; Chow, Gabriel; Auer, Dorothee P.; Whitehouse, William; Dineen, Robert A.

doi:10.1016/j.ejpn.2022.07.004

Cited by 10 publications

(5 citation statements)

References 22 publications

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“…However, neither the A-T NEST nor the original A-T Index have been appropriately validated for use in A-T patients by means of comparing against well-established and validated scoring systems. Despite this, the A-T NEST has continued to be used as a means of tracking the longitudinal progression of patient symptoms [ 13 ]. A-T NEST provides valuable information about extrapyramidal symptoms and oculomotor issues, frequently encountered in A-T patients.…”

Section: Introductionmentioning

confidence: 99%

Correlation Between the SARA and A-T NEST Clinical Severity Scores in Adults with Ataxia-Telangiectasia

et al. 2023

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Ataxia-Telangiectasia (A-T) is an autosomal recessive neurodegenerative disease associated with cerebellar ataxia and extrapyramidal features. A-T has a complex and diverse phenotype with varying rates of disease progression. The development of robust natural history studies and therapeutic trials relies on the accurate recording of phenotype using relevant and validated severity of illness indexes. We compared the commonly used Scale for the Assessment and Rating of Ataxia (SARA) and the disease-specific A-T Neurological Examination Scale Toolkit (A-T NEST), in our adult A-T cohort. We found a strong correlation between A-T NEST and the established SARA score, validating the use of A-T NEST and SARA in capturing the natural history of A-T patients.

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Section: Introductionmentioning

confidence: 99%

Correlation Between the SARA and A-T NEST Clinical Severity Scores in Adults with Ataxia-Telangiectasia

et al. 2023

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“…Although online interviews offered convenience, and participants were provided with details of additional support in our patient information sheet, it may have been more acceptable and appropriate to recruit to face-to-face interviews in supportive settings. However, a sample size of 13 exceeds the suggested minimum of 12 interviews necessary to ensure data saturation (39). 40 A larger and more diverse sample may have revealed other views, but we believe the risk of this is low given the small target population and the evident data saturation achieved in our analysis.…”

Section: Study Limitationsmentioning

confidence: 86%

“… 36 , 37 , 38 These trials have shown that having clinical support to provide psychosocial care, such as a long‐term framework of clinical consultation, peer support scheme either by telephone or email and support network with educational support groups, is as important as the cancer screening itself. 27 , 28 , 29 , 32 Quality‐of‐life is affected by A‐T, 39 and thus it is important to understand whether cancer screening would increase the levels of anxiety and have additional negative impacts on the quality‐of‐life of people with A‐T and their families.…”

Section: Introductionmentioning

confidence: 99%

Whole‐body MRI for cancer surveillance in ataxia–telangiectasia: A qualitative study of the perspectives of people affected by A‐T and their families

Neves

Pérez

Tindall

et al. 2023

Health Expectations

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Background/Objectives Ataxia–telangiectasia (A‐T) is a complex inherited disease associated with an increased risk of malignancy. Surveillance guidelines have demonstrated significant health benefits in other cancer predisposition syndromes. However, evidence‐based guidelines for cancer screening are not currently used in the United Kingdom for people affected by A‐T. This study aims to understand how people with A‐T and their parents feel about cancer surveillance using whole‐body magnetic resonance imaging (MRI) to inform the future development of cancer surveillance guidelines. Design/Methods We conducted semistructured interviews with people affected by A‐T. Data were analysed inductively using thematic analysis. Results Nine parents of children with A‐T and four adults with A‐T were interviewed. Five main themes emerged from the data, including (1) cancer screening was considered invaluable with the perceived value of early detection highlighted; (2) the cancer fear can increase anxiety; (3) the perceived limitations around current practice, with the responsibility for monitoring falling too strongly on parents and patients; (4) the need for effective preparation for cancer screening, including clear communication and (5) the challenges associated with MRI screening, where specific recommendations were made for improving the child's experience. Conclusion This study suggests that stakeholders are positive about the perceived advantages of a cancer screening programme. Ongoing support and preparation techniques should be adopted to maximise adherence and minimise adverse psychosocial outcomes. Patient or Public Contribution People with A‐T and parents of people with A‐T were actively involved in this study by giving their consent to be interviewed. An independent parent representative contributed to the study, supporting the research team in interpreting and commenting on the appropriateness of the language used in this report.

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“…The neurological decline associated with A‐T is severely debilitating. Progressive neurodegeneration and recurrent infections lead to early wheelchair necessity, often at the end of the first decade of life, prolonged hospitalization, reduced quality of life, and a life expectancy between 20 and 30 years [7]. Cerebellar neurodegeneration is well described in A‐T.…”

Section: Introductionmentioning

confidence: 99%

Peripheral polyneuropathy in children and young adults with ataxia–telangiectasia

Theis

Donath

Woelke

et al. 2023

Euro J of Neurology

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BackgroundAtaxia‐telangiectasia (A‐T) is a rare, autosomal recessive, multisystem disorder that leads to progressive neurodegeneration with cerebellar ataxia and peripheral polyneuropathy. Cerebellar neurodegeneration is well described in A‐T. However, peripheral nervous system involvement is an underdiagnosed but important additional target for supportive & systemic therapies.ObjectiveThe aim was to conduct neurophysiological measurements to assess peripheral neurodegeneration and the development of age‐dependent neuropathy in A‐T.MethodsIn this prospective study 42 classical A‐T patients were assessed. The motor and sensory nerve conduction of the median and tibial nerves was evaluated. Data was compared to published standard values and a healthy age‐gender‐matched control group of 23 participants. Ataxia scores (Klockgether, SARA) were also assessed.ResultsIn A‐T neurophysiological assessment revealed neuropathic changes as early as the first year of life. Subjective symptomatology of neuropathy is rarely described. In the upper extremities, motor neuropathy was predominantly that of a demyelinating type and sensory neuropathy was predominantly that of a mixed type. In the lower extremities, motor and sensory neuropathy were predominantly that of a mixed type. We found significant correlations between age and the development of motor and sensory polyneuropathy in A‐T compared with healthy controls (p<0.001).ConclusionIn A‐T, polyneuropathy occurs mostly subclinical as early as the first year of life. The current study of a large national A‐T cohort demonstrates that development of neuropathy in A‐T differs in the upper and lower extremities.

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Quality of life and neurological disability in children and young people with ataxia telangiectasia

Cited by 10 publications

References 22 publications

Correlation Between the SARA and A-T NEST Clinical Severity Scores in Adults with Ataxia-Telangiectasia

Correlation Between the SARA and A-T NEST Clinical Severity Scores in Adults with Ataxia-Telangiectasia

Whole‐body MRI for cancer surveillance in ataxia–telangiectasia: A qualitative study of the perspectives of people affected by A‐T and their families

Peripheral polyneuropathy in children and young adults with ataxia–telangiectasia

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