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).

Physical therapeutic and surgical management in spastic diplegia. A Japanese experience.

With the development of intensive neonatal care, spastic diplegia associated with prematurity has become the most common type of cerebral palsy. The principles of the present authors' treatment for children with the disease are physical therapy (involving neurodevelopmental treatment) and surgical treatment for contractures and deformities. The authors studied the long-term results of physical therapy and its effect on the necessity for surgery and the improvement of locomotor function.

Internal carotid blood flow velocity in children with cerebral palsy by Doppler Ultrasound method.

Cerebral blood flow assessed noninvasively by Doppler ultrasound technique in 30 children with cerebral palsy. The average maximal blood velocity (A/L) and end-diastolic blood velocity (d) of internal carotid artery were measured before and during brief digital compression of contralateral common carotid artery. Both A/L and d values in children with cerebral palsy were significantly lower than those observed in normal healthy children.

Psoas transfer for the treatment of congenital dislocation of the hip.

Since 1965, anterolateral transfer of the psoas muscle has been employed by us as a routine surgical treatment for congenital dislocation of the hip joint. The transfer was carried out in association with open reduction in those patients in whom an intracapsular obstruction was evident, but corrective measures for acetabular dysplasia or cervicocapital deformity of the femur were not performed in this series. We treated 87 hip joints with this procedure from 1965 to 1973.