title: Sjögren-Larsson syndrome: motor performance and everyday functioning in 17 patients.
abstract: Sjögren-Larsson syndrome (SLS) is an autosomal recessive neurometabolic disorder characterized by spasticity, learning disability, and ichthyosis. To our knowledge, there is no detailed report in the literature concerning the functional consequences of SLS. Therefore, we performed a cross-sectional study of motor performance and everyday functioning in 17 patients with this rare disorder. Nine female and eight male patients with SLS (age range 1-35y) were investigated. Data were obtained by structured interview with parents and patients with SLS, a telephone-conducted questionnaire, and physical examination. Motor performance was measured by the Gross Motor Function Measure; everyday functioning was assessed using the Pediatric Evaluation of Disability Inventory and the Vineland Adaptive Behavior Scale. In most patients, spasticity was bilaterally present in hamstrings, hip adductors, and gastrocnemic muscles. All participants above 7 years had contractures in the lower extremities. Limitations were present in all gross motor dimensions, except for lying and rolling. Participants had developmental ages far below their chronological age. This study revealed that patients with SLS have limitations in gross motor performance. Although some patients can reach a certain level of independence, most have activity limitations and restrictions in their participation in society.
authors.affiliation: Academic Medical Centre, Amsterdam, The Netherlands.
authors.forename: Judith
authors.initials: J
authors.lastname: Verhoog
authors.forename: Joris
authors.initials: J
authors.lastname: Fuijkschot
authors.forename: Michèl
authors.initials: M
authors.lastname: Willemsen
authors.forename: Marjolijn
authors.initials: M
authors.lastname: Ketelaar
authors.forename: Jan
authors.initials: J
authors.lastname: Rotteveel
authors.forename: Jan Willem
authors.initials: JW
authors.lastname: Gorter
mesh_terms: D000203:Activities of Daily Living; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003071:Cognition / Q000502:physiology; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009043:Motor Activity / Q000502:physiology*; D011597:Psychomotor Performance / Q000502:physiology; D016059:Range of Motion, Articular; D016111:Sjogren-Larsson Syndrome / Q000150:complications / Q000503:physiopathology* / Q000523:psychology*; D012919:Social Behavior