Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.

Background: Rett syndrome (RTT) is a characteristic neurological disease presenting with regressive loss of neurodevelopmental milestones. Typical RTT is generally caused by abnormality of methyl-CpG binding protein 2 (). Our objective to investigate the genetic landscape of -negative typical/atypical RTT and RTT-like phenotypes using whole exome sequencing (WES).

Concept and treatment outcomes of dynamic spinal brace for scoliosis in cerebral palsy.

We developed a novel device, dynamic spinal brace (DSB), with the basic concept of automatic correction by maximizing posture control. Herein, we report the structure of the DSB and preliminary treatment outcomes for scoliosis in patients with cerebral palsy. The study cohort comprised 219 patients with cerebral palsy treated for scoliosis with Cobb angle of at least 20° and follow-up of more than 3 years under the DSB.

Natural history of scoliosis in cerebral palsy and risk factors for progression of scoliosis.

Background: Scoliosis in cerebral palsy (CP) often occurs and causes a disturbance in daily life. The purpose of this study was to investigate the natural history of scoliosis in cerebral palsy and determine risk factors for the progression of scoliosis using multivariate analyses.

Methods: We revised 113 patients with CP (47 males and 66 females) who had scoliosis with a curve of at least 10° were reviewed and retrospectively investigated these cases of scoliosis and analyzed the risk factors for the progression of this condition.

The cervical spine in athetoid cerebral palsy. A radiological study of 180 patients.

We have reviewed the cervical spine radiographs of 180 patients with athetoid cerebral palsy and compared them with those of 417 control subjects. Disc degeneration occurred earlier and progressed more rapidly in the patients, with advanced disc degeneration in 51%, eight times the frequency in normal subjects. At the C3/4 and C4/5 levels, there was listhetic instability in 17% and 27% of the patients, respectively, again six and eight times more frequently than in the control subjects.

The lumbar spine in spastic diplegia. A radiographic study.

Some radiological features of the lumbar spine of 84 patients with spastic diplegia were compared with 50 control subjects. The average age of the patients was 20.1 years (3 to 39).