RESUMEN
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.
Asunto(s)
Actividades Cotidianas/psicología , Cuidadores/psicología , Calidad de Vida/psicología , Síndrome de Sjögren-Larsson/diagnóstico , Síndrome de Sjögren-Larsson/psicología , Encuestas y Cuestionarios , Adolescente , Adulto , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Embarazo , Adulto JovenRESUMEN
OBJECTIVE: To describe speech-language pathology in patients with Sjögren-Larsson syndrome (SLS) in relation to their cognitive and motor impairment. DESIGN: Observational case series. METHODS: Cognitive functioning was assessed in 16 patients with SLS (nine males; seven females) using different neuropsychological tests. Speech-language pathology was studied focusing on dysarthria, oral motor functioning, speech intelligibility and language development. Potential correlations between speech-language pathology and other neurological symptoms (e.g. spasticity) were studied. RESULTS: The median cognitive developmental age was 5;8 (n = 13; range 3;5-8;0) years. A variable degree of mainly pseudobulbar dysarthria was found. Speech intelligibility was influenced by dysarthria, but was also related to language pathology. No correlation between motor functioning and dysarthria or cognitive development was observed. CONCLUSION: Dysarthria and language problems are important factors in daily life functioning of patients with SLS. Based upon the clinical profile found, early speech-language therapy is recommended in order to optimize their speech-language development.
Asunto(s)
Cognición , Disartria/psicología , Síndrome de Sjögren-Larsson/fisiopatología , Síndrome de Sjögren-Larsson/psicología , Inteligibilidad del Habla , Patología del Habla y Lenguaje , Niño , Preescolar , Femenino , Humanos , Masculino , Pruebas NeuropsicológicasRESUMEN
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.