Effect of sitting posture on development of scoliosis in Duchenne Muscular Dystrophy cases.

Background: Scoliosis is a frequent association in boys with Duchenne Muscular Dystrophy when the ability to walk is lost around nine to 12 years of age. This study assessed the contribution of physical factors including lumbar posture to scoliosis in non-ambulatory youth with DMD in Nepal.

Methods: Linear regression was used to assess effects of time since loss of ambulation, muscle strength, functional severity and lumbar angle as a binary variable on coronal Cobb angle; again logistic regression was used to assess effects of muscle strength and cross-legged sitting on the presence of a lordotic lumbar posture in 22 non-ambulant boys and young men.

Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders.

Background: Rett syndrome is a pervasive neurological disorder with impaired gait as one criterion. This study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome.

Methods: Twenty-six participants (mean 18 years, SD 8) wore an Actigraph, ActivPAL and StepWatch Activity Monitor (SAM) during a video-taped session of activities.

Hemoglobinopathies observed in the population of the Southeastern United States (SE-USA).

A survey of nearly 250,000 citizens of Georgia and South Carolina conducted during the past twenty years has led to the detection of over 40 abnormal hemoglobins and several additional hemoglobinopathies. The presence of some of these hemoglobin abnormalities cause (severe) clinical symptoms but others remain undetected unless a specific search is initiated. The incidence of Hb S varies slightly among the populations of different areas, and appears to be the highest in the coastal counties of Georgia and South Carolina.