Effects of early spasticity treatment on children with hemiplegic cerebral palsy: a preliminary study.

Objective: To compare motor and functional performance of two groups of children with hemiplegic cerebral palsy (HCP). Only the study group (SG) received early treatment of spasticity with botulinum neurotoxin type A (BXT-A).

Methods: Gross Motor Function Measure (GMFM), functional performance (Pediatric Evaluation of Disability Inventory - PEDI), range of movement, gait pattern (Physician Rating Scale - PRS) and the speed of hand movements were considered.

Identification and functional characterization of a novel mutation in the NKX2-1 gene: comparison with the data in the literature.

Background: NKX2-1 mutations have been described in several patients with primary congenital hypothyroidism, respiratory distress, and benign hereditary chorea, which are classical manifestations of the brain-thyroid-lung syndrome (BTLS).

Methods: The NKX2-1 gene was sequenced in the members of a Brazilian family with clinical features of BTLS, and a novel monoallelic mutation was identified in the affected patients. We introduced the mutation in an expression vector for the functional characterization by transfection experiments using both thyroidal and lung-specific promoters.

Two-dimensional analysis of gait asymmetry in spastic hemiplegia.

Objective: Simple measures of gait for routine clinical use could be useful when the complex gait analysis systems are not available. The aim of this study was to quantify asymmetry in children with spastic hemiplegia using a two-dimensional gait analysis by videography and to relate the asymmetry to motor function.

Methods: Twenty-four children with spastic hemiplegia (19 males, 5 females; mean age 49 months [SD 5 months], range from 39 to 60 months) were assessed with a two-dimensional gait analysis by videography and the analyzed parameters were compared with normal values and with clinical and functional data.

Evaluation of sensorimotor polyneuropathy in children and adolescents with type I diabetes: associations with microalbuminuria and retinopathy.

To investigate diabetic polyneuropathy, we measured peroneal motor conduction velocity, sural sensory nerve conduction velocity and vibratory sense threshold (biothesiometry) in 28 children and adolescents with insulin-dependent diabetes (type 1), and in 28 age- and sex-matched, normal controls. Age varied from 8 to 19 yr (mean +/- SD = 13.04 +/- 2.