Daily Functioning and Quality of Life in Patients with Sjögren–Larsson Syndrome

Pippa Staps; Imelda J.M. de Groot; Marjo H.J.C. van Gerven; Michèl A.A.P. Willemsen

doi:10.1055/s-0038-1676854

Neuropediatrics, Table of Contents

Neuropediatrics 2019; 50(02): 089-095
DOI: 10.1055/s-0038-1676854

Original Article

Georg Thieme Verlag KG Stuttgart · New York

Daily Functioning and Quality of Life in Patients with Sjögren–Larsson Syndrome

Pippa Staps

¹Radboud University Medical Center, Donders Institute for Brain Cognition and Behaviour, Amalia Children's Hospital, Department of Pediatric Neurology, Nijmegen, The Netherlands

,

Imelda J.M. de Groot

²Radboud University Medical Center, Donders Institute for Brain Cognition and Behaviour, Department of Rehabilitation, Nijmegen, The Netherlands

,

Marjo H.J.C. van Gerven

²Radboud University Medical Center, Donders Institute for Brain Cognition and Behaviour, Department of Rehabilitation, Nijmegen, The Netherlands

,

Michèl A.A.P. Willemsen

¹Radboud University Medical Center, Donders Institute for Brain Cognition and Behaviour, Amalia Children's Hospital, Department of Pediatric Neurology, Nijmegen, The Netherlands

› Author Affiliations

Abstract

Aim Sjögren–Larsson syndrome (SLS) is an autosomal recessively inherited neurometabolic disease caused by an enzyme defect in lipid metabolism. Patients suffer from intellectual disability, bilateral spastic paresis, ichthyosis, visual impairment, and photophobia. Knowledge about the meaning of having SLS in daily life is lacking.

Methods Sixteen parents or caregivers of patients with SLS were asked to fill out online questionnaires about daily functioning, quality of life, feeding and swallowing problems, skin treatment, female hormonal status, and greatest problems.

Results Questionnaires were filled out by parents or caregivers of six children and 10 adult patients, age range 11 to 58 years. The median quality of life score was 73 (range: 26–100). Most often reported problems were itchy skin, reduced mobility, and dependency. Feeding and swallowing problems were reported in 75% of the patients. Mood problems were rarely mentioned.

Discussion Despite the large disruptions of daily functioning, patients with SLS are according to their parents generally content with their quality of life and participation. There was a broad range in reported problems. We found it very useful to systematically ask parents about their children's feelings and needs, to better understand the meaning of living with a complex disorder like SLS.

Keywords

Sjögren–Larsson syndrome - quality of life - participation - feeding and swallowing problems

Full Text

References

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