Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study

Vilma-Lotta Lehtokari; Minna Similä; Marianne Tammepuu; Carina Wallgren-Pettersson; Sonja Strang-Karlsson; Sinikka Hiekkala

doi:10.1186/s13023-023-02973-2

Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study

Orphanet J Rare Dis. 2023 Nov 30;18(1):374. doi: 10.1186/s13023-023-02973-2.

Authors

Vilma-Lotta Lehtokari^{1

2}, Minna Similä³, Marianne Tammepuu⁴, Carina Wallgren-Pettersson^{5

6}, Sonja Strang-Karlsson⁷, Sinikka Hiekkala⁸

Affiliations

¹ Folkhälsan Research Center, Helsinki, Finland. vilma.lehtokari@helsinki.fi.
² Medicum, University of Helsinki, Helsinki, Finland. vilma.lehtokari@helsinki.fi.
³ Clinical Nutrition Unit, Internal Medicine and Rehabilitation, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
⁴ Department of Paediatric Neurology, New Children's Hospital, Helsinki University Hospital, Helsinki, Finland.
⁵ Folkhälsan Research Center, Helsinki, Finland.
⁶ Medicum, University of Helsinki, Helsinki, Finland.
⁷ Department of Clinical Genetics, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
⁸ The Finnish Association of People with Physical Disabilities, Helsinki, Finland.

Abstract

Background: Nemaline myopathy (NM) and related disorders (NMr) form a heterogenous group of ultra-rare (1:50,000 live births or less) congenital muscle disorders. To elucidate the self-reported physical, psychological, and social functioning in the daily lives of adult persons with congenital muscle disorders, we designed a survey using items primarily from the Patient Reported Outcomes Measurement Information System, PROMIS®, and conducted a pilot study in patients with NM and NMr in Finland. The items were linked to International Classification of Functioning, Disability and Health (ICF) categories.

Results: In total, 20 (62.5%) out of 32 invited persons resident in Finland participated in the study; 12 had NM and 8 NMr, 15 were women and 5 men aged 19-75 years. Sixteen (80%) were ambulatory and 4 (20%) NM patients used wheelchairs. The results from the PROMIS measuring system and ICF categories both indicated that non-ambulatory patients of this study faced more challenges in all areas of functioning than ambulatory ones, but the differences were smaller in the domains measuring psychological and social functioning than in physical functioning. In addition, the COVID-19 pandemic adversely affected the functioning of non-ambulatory patients more than that of ambulatory patients. The interindividual differences were, however, noticeable.

Conclusions: To our knowledge, this pilot study is the first comprehensive survey-based study of the physical, psychological, and social functioning of adult persons with nemaline myopathy or related disorders. The results indicate vulnerability of non-ambulatory patients being at higher risk to a decrease in general functioning during global or national exceptional periods. The responses also gave directions for modifying and improving the survey for future studies.

Keywords: Congenital myopathies; Cross-sectional survey; International classification of functioning (ICF); Nemaline myopathy; Patient-Reported Outcomes Measurement Information System (PROMIS®); Self-reported functioning.

MeSH terms

Activities of Daily Living
Adult
Female
Finland
Humans
International Classification of Functioning, Disability and Health
Male
Myopathies, Nemaline*
Pandemics
Pilot Projects
Self Report

Grants and funding

101003/Folkhälsanin Tutkimussäätiö