Learn More
Dok ('downstream-of-kinase') family of cytoplasmic proteins play a role in signalling downstream of receptor and non-receptor phosphotyrosine kinases. Recently, a skeletal muscle receptor tyrosine kinase (MuSK)-interacting cytoplasmic protein termed Dok-7 has been identified. Subsequently, we and others identified mutations in DOK7 as a cause of congenital(More)
OBJECT Selective posterior rhizotomy is a well-established treatment for spasticity associated with cerebral palsy. At most medical centers, responses of dorsal rootlets to electrical stimulation are used to determine ablation sites; however, there has been some controversy regarding the reliability of intraoperative stimulation. The authors analyzed data(More)
BACKGROUND Although behavioural problems are frequent in children with Cerebral Palsy (CP), the exact nature of these difficulties and their relationship with intrinsic or extrinsic factors are just beginning to be explored. AIM To describe and characterize behavioural problems in children with CP and to determine the nature of any relationships with(More)
OBJECTIVE To characterize the quality of life of children with cerebral palsy from the parents' and children's perspectives. STUDY DESIGN Ninety-five children were recruited; a parent, and when feasible, the child also completed the Child Health Questionnaire and Pediatric Quality of Life Inventory. A range of predictor variables was measured relating to(More)
The authors describe three children with septo-optic dysplasia (SOD)-plus: SOD and an associated malformation of cortical development. All three children had developmental delay, and two of the children had significant associated motor deficits. The associated cortical malformations with SOD include a spectrum of disorders of neuronal organization, not(More)
The study of inherited retinal diseases has advanced our knowledge of the cellular and molecular mechanisms involved in sensory neural signaling. Dysfunction of two specific sensory modalities, vision and proprioception, characterizes the phenotype of the rare, autosomal-recessive disorder posterior column ataxia and retinitis pigmentosa (PCARP). Using(More)
OBJECT Selective dorsal rhizotomy (SDR) has been shown to provide considerable benefit to children with spastic cerebral palsy (CP). The authors sought to evaluate the risks of postoperative spinal deformities in patients following SDR. METHODS All patients who underwent SDR at McGill University between 1991 and 2001 were identified. Hospital charts and(More)
INTRODUCTION We have identified a large consanguineous Lebanese family with 5 individuals with severe childhood-onset recessive sensory loss associated with deafness and variable optic atrophy. METHODS Autozygosity mapping was performed in all affected individuals, followed by whole-exome sequencing (WES) in 2 individuals. RESULTS WES identified a(More)
The objective of this study was to characterize participation in leisure activities in children with cerebral palsy (CP) and identify determinants of greater involvement. Ninety-five children of school age (9y 7mo [SD 2y 1mo]) with CP were recruited, and participation was evaluated with the Children's Assessment of Participation and Enjoyment in a subset(More)
AIM the aim of this study was to describe and identify factors associated with motivation in children with cerebral palsy (CP). METHOD children with CP were recruited for this cross-sectional study. Children were assessed using the Leiter Intelligence Test, the Gross Motor Function Measure, and the Vineland Adaptive Behavior Scale. Parents completed the(More)