Health survey of adults with hereditary spastic paraparesis compared to population study controls.

Background: Hereditary spastic paraparesis (HSP) is a rare neurodegenerative condition characterized by slowly progressive spastic weakness of the lower limbs and urinary sphincter dysfunction. Complex HSP involves additional neurologic symptoms and signs like ataxia, extra pyramidal signs, polyneuropathy, and cognitive decline. Little is known about the disease burden for adults with HSP beyond the described core symptoms.

A 6-year Follow-up survey of health status in middle-aged women with Turner syndrome.

Objective: Studies suggest younger women with Turner syndrome (TS) have good quality of life. Less is known about everyday functioning in adults with TS. In a 6-year follow-up study, multiple areas of functioning were compared between TS women and controls.

Health status in women with Turner syndrome: a questionnaire study on health status, education, work participation and aspects of sexual functioning.

Context: Turner syndrome (TS) is a complex medical condition with specific cognitive and psychosocial characteristics and frequent medical morbidity. Few studies have investigated the influence this has on health status, education and ability to work.

Objective: To explore health status, level of education, work participation, medical conditions, physical activity, satisfaction with life and aspects of sexual functioning in adult TS women and compare with a matched control group.

Health status of adults with short stature: a comparison with the normal population and one well-known chronic disease (rheumatoid arthritis).

Background: To examine the subjective health status of adults with short stature (ShSt) and compare with the general population (GP) and one well-known chronic disease, rheumatoid arthritis (RA). In addition, to explore the association between age, gender, height, educational level and different aspects of health status of adults with short stature.

Methods: A questionnaire was mailed to 72 subjects with short stature registered in the database of a Norwegian resource centre for rare disorders, response rate 61% (n = 44, age 16-61).