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Van Damme, P., Al-Chalabi, A., Andersen, P. M., Chiò, A., Couratier, P., De Carvalho, M., . . . Weber, M. (2024). European academy of neurology (EAN) guideline on the management of amyotrophic lateral sclerosis in collaboration with European reference network for neuromuscular diseases (ERN EURO-NMD). European Journal of Neurology
Open this publication in new window or tab >>European academy of neurology (EAN) guideline on the management of amyotrophic lateral sclerosis in collaboration with European reference network for neuromuscular diseases (ERN EURO-NMD)
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2024 (English)In: European Journal of Neurology, ISSN 1351-5101, E-ISSN 1468-1331Article in journal (Refereed) Epub ahead of print
Abstract [en]

Background: This update of the guideline on the management of amyotrophic lateral sclerosis (ALS) was commissioned by the European Academy of Neurology (EAN) and prepared in collaboration with the European Reference Network for Neuromuscular Diseases (ERN EURO-NMD) and the support of the European Network for the Cure ALS (ENCALS) and the European Organization for Professionals and Patients with ALS (EUpALS).

Methods: Grading of Recommendations Assessment, Development, and Evaluation (GRADE) methodology was used to assess the effectiveness of interventions for ALS. Two systematic reviewers from Cochrane Response supported the guideline panel. The working group identified a total of 26 research questions, performed systematic reviews, assessed the quality of the available evidence, and made specific recommendations. Expert consensus statements were provided where insufficient evidence was available.

Results: A guideline mapping effort revealed only one other ALS guideline that used GRADE methodology (a National Institute for Health and Care Excellence [NICE] guideline). The available evidence was scarce for many research questions. Of the 26 research questions evaluated, the NICE recommendations could be adapted for 8 questions. Other recommendations required updates of existing systematic reviews or de novo reviews. Recommendations were made on currently available disease-modifying treatments, multidisciplinary care, nutritional and respiratory support, communication aids, psychological support, treatments for common ALS symptoms (e.g., muscle cramps, spasticity, pseudobulbar affect, thick mucus, sialorrhea, pain), and end-of-life management.

Conclusions: This update of the guideline using GRADE methodology provides a framework for the management of ALS. The treatment landscape is changing rapidly, and further updates will be prepared when additional evidence becomes available.

Place, publisher, year, edition, pages
John Wiley & Sons, 2024
Keywords
disease-modifying treatment, gastrostomy, guideline, multidisciplinary care, non-invasive ventilation
National Category
Neurology
Identifiers
urn:nbn:se:umu:diva-223082 (URN)10.1111/ene.16264 (DOI)001182520500001 ()38470068 (PubMedID)2-s2.0-85187465125 (Scopus ID)
Available from: 2024-04-15 Created: 2024-04-15 Last updated: 2024-04-15
Fahmy, N., Müller, K., Andersen, P. M., Marklund, S. L., Otto, M., Ludolph, A. C. & Hamdi, N. (2023). A novel homozygous p.Ser69Pro SOD1 mutation causes severe young-onset ALS with decreased enzyme activity. Journal of Neurology, 270, 1770-1773
Open this publication in new window or tab >>A novel homozygous p.Ser69Pro SOD1 mutation causes severe young-onset ALS with decreased enzyme activity
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2023 (English)In: Journal of Neurology, ISSN 0340-5354, E-ISSN 1432-1459, Vol. 270, p. 1770-1773Article in journal (Refereed) Published
Abstract [en]

Background: The dose–effect of various SOD1 mutations on SOD1 enzymatic activity offers valuable insights into ALS pathogenesis with possible therapeutic implications. Homozygous SOD1 mutations, yet scarce, are of special interest. We report a novel homozygous SOD1 mutation with decreased enzymatic activity and severe early onset ALS phenotype.

Methods: Whole exome sequencing and targeted screening of commonly implicated genes were conducted. Repeat-primed PCR and fragment length analysis were used for C9orf72. Bi-directional Sanger sequencing was used for SOD1 and other genes. SOD1 activity was measured by direct spectrophotometry. Serum neurofilament light chain level was measured by the ELLA immunoassay system.

Results: The homozygous patient for a novel SOD1 variant p.Ser69Pro showed poor SOD1 enzymatic activity (16% of controls) and an early onset ALS phenotype predominantly affecting lower motor neurons with rapid involvement of the trunk, upper limbs and bulbar muscles. The asymptomatic heterozygous relatives had at least 68% of normal enzyme activity. Level of serum neurofilament light chain was much higher (148 pg/ml) in the patient than the relatives who had normal levels (6–10 pg/ml).

Conclusion: This novel mutation adds knowledge to the ALS genotype–phenotype spectrum and supports the strong dose–effect of SOD1 mutations associated with severely decreased enzymatic activity.

Place, publisher, year, edition, pages
Springer, 2023
Keywords
Enzyme activity, Homozygous, Novel mutation, SOD1, Young-onset
National Category
Neurosciences Neurology
Identifiers
urn:nbn:se:umu:diva-201750 (URN)10.1007/s00415-022-11489-x (DOI)000894540900004 ()36472686 (PubMedID)2-s2.0-85143510425 (Scopus ID)
Available from: 2022-12-30 Created: 2022-12-30 Last updated: 2023-06-29Bibliographically approved
Dilliott, A. A., Al Nasser, A., Elnagheeb, M., Fifita, J., Henden, L., Keseler, I. M., . . . Farhan, S. M. K. (2023). Clinical testing panels for ALS: global distribution, consistency, and challenges. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 24(5-6), 420-435
Open this publication in new window or tab >>Clinical testing panels for ALS: global distribution, consistency, and challenges
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2023 (English)In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, ISSN 2167-8421, E-ISSN 2167-9223, Vol. 24, no 5-6, p. 420-435Article in journal (Refereed) Published
Abstract [en]

Objective: In 2021, the Clinical Genome Resource (ClinGen) amyotrophic lateral sclerosis (ALS) spectrum disorders Gene Curation Expert Panel (GCEP) was established to evaluate the strength of evidence for genes previously reported to be associated with ALS. Through this endeavor, we will provide standardized guidance to laboratories on which genes should be included in clinical genetic testing panels for ALS. In this manuscript, we aimed to assess the heterogeneity in the current global landscape of clinical genetic testing for ALS.

Methods: We reviewed the National Institutes of Health (NIH) Genetic Testing Registry (GTR) and members of the ALS GCEP to source frequently used testing panels and compare the genes included on the tests.

Results: 14 clinical panels specific to ALS from 14 laboratories covered 4 to 54 genes. All panels report on ANG, SOD1, TARDBP, and VAPB; 50% included or offered the option of including C9orf72 hexanucleotide repeat expansion (HRE) analysis. Of the 91 genes included in at least one of the panels, 40 (44.0%) were included on only a single panel. We could not find a direct link to ALS in the literature for 14 (15.4%) included genes.

Conclusions: The variability across the surveyed clinical genetic panels is concerning due to the possibility of reduced diagnostic yields in clinical practice and risk of a missed diagnoses for patients. Our results highlight the necessity for consensus regarding the appropriateness of gene inclusions in clinical genetic ALS tests to improve its application for patients living with ALS and their families.

Place, publisher, year, edition, pages
Taylor & Francis, 2023
Keywords
Amyotrophic lateral sclerosis, clinical laboratories, gene panels, gene-disease relationships, genetic testing
National Category
Neurology
Identifiers
urn:nbn:se:umu:diva-206369 (URN)10.1080/21678421.2023.2173015 (DOI)000946933700001 ()36896705 (PubMedID)2-s2.0-85150659766 (Scopus ID)
Available from: 2023-04-25 Created: 2023-04-25 Last updated: 2023-09-29Bibliographically approved
Finsel, J., Winroth, I., Ciećwierska, K., Helczyk, O., Stenberg, E. A., Häggström, A.-C., . . . Andersen, P. M. (2023). Determining impairment in the Swedish, Polish and German ECAS: the importance of adjusting for age and education. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 24(5-6), 475-484
Open this publication in new window or tab >>Determining impairment in the Swedish, Polish and German ECAS: the importance of adjusting for age and education
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2023 (English)In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, ISSN 2167-8421, E-ISSN 2167-9223, Vol. 24, no 5-6, p. 475-484Article in journal (Refereed) Published
Abstract [en]

Objective: Age and years of education are strong predictors of cognitive performance in several versions of the Edinburgh Cognitive and Behavioral ALS Screen (ECAS) and cutoffs for the Swedish and Polish versions are not established yet. Here we evaluated the performance of healthy subjects on the national versions of the Swedish and Polish ECAS and compared cognitive performance on three European translations of the ECAS.

Methods: The ECAS performances of healthy subjects from Sweden (n = 111), Poland (n = 124) and Germany (n = 86) were compared. Based on the test results on the national versions of ECAS, age- and education-adjusted cutoffs were compared for the German, Swedish and Polish versions, respectively.

Results: Age and years of education correlated with performance in the ECAS. Swedish subjects under the age of 60 years and Swedish subjects with low education level scored significantly higher in memory than the respective German and Polish subgroups. German and Polish subjects over 60 years of age performed significantly better in language than the respective Swedish subgroup. The Polish cohort in total had lower executive scores compared to the Swedish cohort, and lower than the German subjects in the higher education subgroup.

Conclusions: The results highlight the importance of establishing age- and education-adjusted ECAS cutoffs not only in general, but also for seemingly similar populations of different origins. The results should be taken into account when comparing cognition data across patient populations including in drug trials where an ECAS test result is being used as an inclusion criterium or outcome measure.

Place, publisher, year, edition, pages
Taylor & Francis, 2023
Keywords
ALS, cognition test, ECAS, FTD, population differences
National Category
Neurology
Identifiers
urn:nbn:se:umu:diva-206768 (URN)10.1080/21678421.2023.2192248 (DOI)000961175100001 ()36994762 (PubMedID)2-s2.0-85152069229 (Scopus ID)
Funder
The Swedish Brain Foundation, 2013-0279The Swedish Brain Foundation, 2016-0303The Swedish Brain Foundation, 2018-0310Swedish Research Council, 2012-3167Swedish Research Council, 2017-03100Knut and Alice Wallenberg Foundation, 2012.0091Knut and Alice Wallenberg Foundation, 2014.0305Region Västerbotten, 2013-7590
Available from: 2023-04-27 Created: 2023-04-27 Last updated: 2023-10-06Bibliographically approved
Yilmaz, R., Grehl, T., Eckrich, L., Marschalkowski, I., Weishaupt, K., Valkadinov, I., . . . Weishaupt, J. H. (2023). Frequency of C9orf72 and SOD1 mutations in 302 sporadic ALS patients from three German ALS centers. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 24(5-6), 414-419
Open this publication in new window or tab >>Frequency of C9orf72 and SOD1 mutations in 302 sporadic ALS patients from three German ALS centers
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2023 (English)In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, ISSN 2167-8421, E-ISSN 2167-9223, Vol. 24, no 5-6, p. 414-419Article in journal (Refereed) Published
Abstract [en]

Background: ALS patients with a negative family history (sporadic ALS, SALS) represent more than 90% of all ALS cases. In light of the gene-specific therapies that are currently in development for ALS, knowledge about the genetic landscape of SALS in Germany is urgently needed.

Objectives: We aimed to determine the frequency of C9orf72 hexanucleotide repeat expansion (HRE) and SOD1 mutations among patients in Germany with a diagnosis of sporadic or idiopathic ALS.

Methods: We genotyped SALS patients from three German ALS centers. Sanger sequencing, fragment length analysis, and repeat-primed PCR technologies were used to detect mutations in SOD1 and C9orf72 HRE. Pathological C9orf72 HRE results were confirmed in an independent laboratory.

Results: In 302 patients with SALS, 27 (8.9%) patients with a C9orf72 HRE mutation were detected. Moreover, we identified two patients with a pathogenic SOD1 mutation, one patient with a heterozygous p.D91A mutation in SOD1, and three additional patients with rare SOD1 variants not predicted to change the amino acid sequence.

Conclusions: According to our data, the proportion of SALS patients with SOD1 mutations is in the expected range, whereas that with C9orf72 HRE is higher, suggesting a reduced penetrance. A considerable number of SALS patients can be amenable to gene-specific therapies.

Place, publisher, year, edition, pages
Taylor & Francis, 2023
Keywords
Amyotrophic lateral sclerosis, motor neuron disease, neurodegeneration, neurogenetics, sporadic ALS
National Category
Neurology
Identifiers
urn:nbn:se:umu:diva-204513 (URN)10.1080/21678421.2023.2165946 (DOI)000914114500001 ()36650645 (PubMedID)2-s2.0-85146721627 (Scopus ID)
Available from: 2023-02-07 Created: 2023-02-07 Last updated: 2023-10-16Bibliographically approved
Van Daele, S. H., Moisse, M., van Vugt, J. J., Zwamborn, R. A., van der Spek, R., van Rheenen, W., . . . Van Damme, P. (2023). Genetic variability in sporadic amyotrophic lateral sclerosis. Brain, 146(9), 3760-3769
Open this publication in new window or tab >>Genetic variability in sporadic amyotrophic lateral sclerosis
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2023 (English)In: Brain, ISSN 0006-8950, E-ISSN 1460-2156, Vol. 146, no 9, p. 3760-3769Article in journal (Refereed) Published
Abstract [en]

With the advent of gene therapies for amyotrophic lateral sclerosis (ALS), there is a surge in gene testing for this disease. Although there is ample experience with gene testing for C9orf72, SOD1, FUS and TARDBP in familial ALS, large studies exploring genetic variation in all ALS-associated genes in sporadic ALS (sALS) are still scarce. Gene testing in a diagnostic setting is challenging, given the complex genetic architecture of sALS, for which there are genetic variants with large and small effect sizes. Guidelines for the interpretation of genetic variants in gene panels and for counselling of patients are lacking.

We aimed to provide a thorough characterization of genetic variability in ALS genes by applying the American College of Medical Genetics and Genomics (ACMG) criteria on whole genome sequencing data from a large cohort of 6013 sporadic ALS patients and 2411 matched controls from Project MinE.

We studied genetic variation in 90 ALS-associated genes and applied customized ACMG-criteria to identify pathogenic and likely pathogenic variants. Variants of unknown significance were collected as well. In addition, we determined the length of repeat expansions in C9orf72, ATXN1, ATXN2 and NIPA1 using the ExpansionHunter tool.

We found C9orf72 repeat expansions in 5.21% of sALS patients. In 50 ALS-associated genes, we did not identify any pathogenic or likely pathogenic variants. In 5.89%, a pathogenic or likely pathogenic variant was found, most commonly in SOD1, TARDBP, FUS, NEK1, OPTN or TBK1. Significantly more cases carried at least one pathogenic or likely pathogenic variant compared to controls (odds ratio 1.75; P-value 1.64 × 10-5). Isolated risk factors in ATXN1, ATXN2, NIPA1 and/or UNC13A were detected in 17.33% of cases. In 71.83%, we did not find any genetic clues. A combination of variants was found in 2.88%.

This study provides an inventory of pathogenic and likely pathogenic genetic variation in a large cohort of sALS patients. Overall, we identified pathogenic and likely pathogenic variants in 11.13% of ALS patients in 38 known ALS genes. In line with the oligogenic hypothesis, we found significantly more combinations of variants in cases compared to controls. Many variants of unknown significance may contribute to ALS risk, but diagnostic algorithms to reliably identify and weigh them are lacking. This work can serve as a resource for counselling and for the assembly of gene panels for ALS. Further characterization of the genetic architecture of sALS is necessary given the growing interest in gene testing in ALS.

Place, publisher, year, edition, pages
Oxford University Press, 2023
Keywords
complex genetic disease, motor neuron disease, oligogenic inheritance
National Category
Neurology Medical Genetics
Identifiers
urn:nbn:se:umu:diva-214248 (URN)10.1093/brain/awad120 (DOI)001003920000001 ()37043475 (PubMedID)2-s2.0-85169624664 (Scopus ID)
Funder
EU, Horizon 2020, 772376-EScORIAL
Available from: 2023-09-18 Created: 2023-09-18 Last updated: 2023-09-18Bibliographically approved
Megat, S., Mora, N., Sanogo, J., Roman, O., Catanese, A., Alami, N. O., . . . Dupuis, L. (2023). Integrative genetic analysis illuminates ALS heritability and identifies risk genes. Nature Communications, 14(1), Article ID 342.
Open this publication in new window or tab >>Integrative genetic analysis illuminates ALS heritability and identifies risk genes
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2023 (English)In: Nature Communications, E-ISSN 2041-1723, Vol. 14, no 1, article id 342Article in journal (Refereed) Published
Abstract [en]

Amyotrophic lateral sclerosis (ALS) has substantial heritability, in part shared with fronto-temporal dementia (FTD). We show that ALS heritability is enriched in splicing variants and in binding sites of 6 RNA-binding proteins including TDP-43 and FUS. A transcriptome wide association study (TWAS) identified 6 loci associated with ALS, including in NUP50 encoding for the nucleopore basket protein NUP50. Independently, rare variants in NUP50 were associated with ALS risk (P = 3.71.10−03; odds ratio = 3.29; 95%CI, 1.37 to 7.87) in a cohort of 9,390 ALS/FTD patients and 4,594 controls. Cells from one patient carrying a NUP50 frameshift mutation displayed a decreased level of NUP50. Loss of NUP50 leads to death of cultured neurons, and motor defects in Drosophila and zebrafish. Thus, our study identifies alterations in splicing in neurons as critical in ALS and provides genetic evidence linking nuclear pore defects to ALS.

Place, publisher, year, edition, pages
Nature Publishing Group, 2023
National Category
Neurology Neurosciences
Identifiers
urn:nbn:se:umu:diva-204487 (URN)10.1038/s41467-022-35724-1 (DOI)001002375100001 ()36670122 (PubMedID)2-s2.0-85146753491 (Scopus ID)
Funder
EU, European Research Council, (EERC-2017-COG 770244EU, European Research Council, 772376—EScORIAL
Note

Errata: Megat S, Mora N, Sanogo J, Roman O, Catenese A, et al. Author Correction: Integrative genetic analysis illuminates ALS heritability and identifies risk genes. Nature Communications. 2023;14(1):8026. DOI: 110.1038/s41467-023-43710-4

Available from: 2023-02-10 Created: 2023-02-10 Last updated: 2023-12-15Bibliographically approved
Adey, B. N., Cooper-Knock, J., Al Khleifat, A., Fogh, I., van Damme, P., Corcia, P., . . . Iacoangeli, A. (2023). Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival. Frontiers in Cellular Neuroscience, 17, Article ID 1112405.
Open this publication in new window or tab >>Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival
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2023 (English)In: Frontiers in Cellular Neuroscience, E-ISSN 1662-5102, Vol. 17, article id 1112405Article in journal (Refereed) Published
Abstract [en]

Introduction: Caveolin-1 and Caveolin-2 (CAV1 and CAV2) are proteins associated with intercellular neurotrophic signalling. There is converging evidence that CAV1 and CAV2 (CAV1/2) genes have a role in amyotrophic lateral sclerosis (ALS). Disease-associated variants have been identified within CAV1/2 enhancers, which reduce gene expression and lead to disruption of membrane lipid rafts.

Methods: Using large ALS whole-genome sequencing and post-mortem RNA sequencing datasets (5,987 and 365 tissue samples, respectively), and iPSC-derived motor neurons from 55 individuals, we investigated the role of CAV1/2 expression and enhancer variants in the ALS phenotype.

Results: We report a differential expression analysis between ALS cases and controls for CAV1 and CAV2 genes across various post-mortem brain tissues and three independent datasets. CAV1 and CAV2 expression was consistently higher in ALS patients compared to controls, with significant results across the primary motor cortex, lateral motor cortex, and cerebellum. We also identify increased survival among carriers of CAV1/2 enhancer mutations compared to non-carriers within Project MinE and slower progression as measured by the ALSFRS. Carriers showed a median increase in survival of 345 days.

Discussion: These results add to an increasing body of evidence linking CAV1 and CAV2 genes to ALS. We propose that carriers of CAV1/2 enhancer mutations may be conceptualised as an ALS subtype who present a less severe ALS phenotype with a longer survival duration and slower progression. Upregulation of CAV1/2 genes in ALS cases may indicate a causal pathway or a compensatory mechanism. Given prior research supporting the beneficial role of CAV1/2 expression in ALS patients, we consider a compensatory mechanism to better fit the available evidence, although further investigation into the biological pathways associated with CAV1/2 is needed to support this conclusion.

Place, publisher, year, edition, pages
Frontiers Media S.A., 2023
Keywords
ALS (Amyotrophic lateral sclerosis), Cav, CAV1 and CAV2, caveolin, differential expression analysis (DEA), enhancer variant, neurodegeneration, survival analysis
National Category
Neurology Neurosciences
Identifiers
urn:nbn:se:umu:diva-206031 (URN)10.3389/fncel.2023.1112405 (DOI)000951112800001 ()2-s2.0-85150359744 (Scopus ID)
Funder
EU, Horizon 2020, 633413
Available from: 2023-03-27 Created: 2023-03-27 Last updated: 2024-03-19Bibliographically approved
Zimyanin, V. L., Pielka, A.-M., Glaß, H., Japtok, J., Großmann, D., Martin, M., . . . Hermann, A. (2023). Live cell imaging of ATP levels reveals metabolic compartmentalization within motoneurons and early metabolic changes in FUS ALS motoneurons. Cells, 12(10), Article ID 1352.
Open this publication in new window or tab >>Live cell imaging of ATP levels reveals metabolic compartmentalization within motoneurons and early metabolic changes in FUS ALS motoneurons
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2023 (English)In: Cells, E-ISSN 2073-4409, Vol. 12, no 10, article id 1352Article in journal (Refereed) Published
Abstract [en]

Motoneurons are one of the most energy-demanding cell types and a primary target in Amyotrophic lateral sclerosis (ALS), a debilitating and lethal neurodegenerative disorder without currently available effective treatments. Disruption of mitochondrial ultrastructure, transport, and metabolism is a commonly reported phenotype in ALS models and can critically affect survival and the proper function of motor neurons. However, how changes in metabolic rates contribute to ALS progression is not fully understood yet. Here, we utilize hiPCS-derived motoneuron cultures and live imaging quantitative techniques to evaluate metabolic rates in fused in sarcoma (FUS)-ALS model cells. We show that differentiation and maturation of motoneurons are accompanied by an overall upregulation of mitochondrial components and a significant increase in metabolic rates that correspond to their high energy-demanding state. Detailed compartment-specific live measurements using a fluorescent ATP sensor and FLIM imaging show significantly lower levels of ATP in the somas of cells carrying FUS-ALS mutations. These changes lead to the increased vulnerability of diseased motoneurons to further metabolic challenges with mitochondrial inhibitors and could be due to the disruption of mitochondrial inner membrane integrity and an increase in its proton leakage. Furthermore, our measurements demonstrate heterogeneity between axonal and somatic compartments, with lower relative levels of ATP in axons. Our observations strongly support the hypothesis that mutated FUS impacts the metabolic states of motoneurons and makes them more susceptible to further neurodegenerative mechanisms.

Place, publisher, year, edition, pages
MDPI, 2023
Keywords
amyotrophic lateral sclerosis, metabolism, mitochondria
National Category
Neurology
Identifiers
urn:nbn:se:umu:diva-209563 (URN)10.3390/cells12101352 (DOI)000996861700001 ()2-s2.0-85160644094 (Scopus ID)
Funder
The Swedish Brain Foundation, 2012-0262The Swedish Brain Foundation, 2018-0310The Swedish Brain Foundation, 2020-0353Knut and Alice Wallenberg Foundation, 2012.0091Knut and Alice Wallenberg Foundation, 2014.0305Knut and Alice Wallenberg Foundation, 2020.0232Konung Gustaf V:s och Drottning Victorias Frimurarestiftelse
Available from: 2023-06-12 Created: 2023-06-12 Last updated: 2023-06-12Bibliographically approved
Malmström, N., Jakobsson Larsson, B., Nilsson, S., Öhlén, J., Nygren, I., Andersen, P. M. & Ozanne, A. (2023). Living with a parent with ALS - adolescents' need for professional support from the adolescents' and the parents' perspectives. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 24(7-8), 727-735
Open this publication in new window or tab >>Living with a parent with ALS - adolescents' need for professional support from the adolescents' and the parents' perspectives
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2023 (English)In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, ISSN 2167-8421, E-ISSN 2167-9223, Vol. 24, no 7-8, p. 727-735Article in journal (Refereed) Published
Abstract [en]

Aim: The aim of the study was to qualitatively investigate the adolescents’ need for professional support when a parent has amyotrophic lateral sclerosis (ALS)–from the adolescents’ and the parents’ perspectives.

Methods: A total of 37 individual semi-structured single interviews with 18 families were conducted, including 11 adolescents aged 8-25 and 26 parents, 13 with ALS and 13 co-parents. Data was analysed using qualitative content analysis.

Results: Both adolescents and parents described the adolescents as needing professional support but found it difficult to articulate this need. However, the results indicate that the adolescents needed help in bringing manageability into their lives due to the uncertainty of living with the illness in the family. It was therefore essential to ensure that the adolescents were not forgotten in the disease context and that their needs for being involved as well as for obtaining information and understanding, was addressed. The importance of offering the adolescents support early was emphasized, but also of actively helping the families to master challenges in their everyday life. Support adapted to each family’s unique situation and preferences was desired, as the adolescents’ need for support seemed to be individual, disease-dependent and varied during different phases.

Conclusion: Given the adolescents’ need for information and understanding, healthcare professionals must actively work to reach the adolescents as early as possible. It is crucial to ensure that the adolescents are given the opportunity to be involved based on their own conditions, as well as to support the families to strengthen their communication.

Place, publisher, year, edition, pages
Taylor & Francis, 2023
Keywords
adolescents as relatives, Amyotrophic lateral sclerosis, clinical trials, ethics, family support, motor neuron disease, neurophysiology, qualitative content analysis
National Category
Neurology
Identifiers
urn:nbn:se:umu:diva-212495 (URN)10.1080/21678421.2023.2228348 (DOI)001032196700001 ()37486108 (PubMedID)2-s2.0-85165590862 (Scopus ID)
Available from: 2023-08-01 Created: 2023-08-01 Last updated: 2023-12-29Bibliographically approved
Projects
Genetic factors causing sporadic and familial amyotrophic lateral sclerosis (ALS/MND) with or without dementia [2009-03548_VR]; Umeå UniversityGenetic factors causing sporadic and familial amyotrophic lateral sclerosis (ALS/MND) with or without frontotemporal dementia. [2012-03167_VR]; Umeå UniversityAnsökan VD ALS EU (JPND HC-559-024) [2013-07590_VR]; Umeå UniversityJPND Pilot Studies on Preventive Strategies 2013. ONWebDUALS, ONTology-based Web Database for Understanding Amyotrophic Lateral Sclerosis [2014-07505_VR]; Umeå UniversityOn the Origin of ALS: Clinical-genetic research into the etiology of ALS with or without dementia: Translation into Inhibition of SOD1 prion as a novel new intervention for treating ALS [2017-03100_VR]; Umeå University
Organisations
Identifiers
ORCID iD: ORCID iD iconorcid.org/0000-0003-0094-5429

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