The use of the brunet lezine scale for the cognitive and motor assessment of patients with profound and multiple disabilities

ObjectivesTo date, there is no validated tool allowing the assessment of cognitive and motor capacities of patients with polyhandicap (PLH) because of their profound and multiple disabilities because of their severe mental deficiencies and motor handicaps, as well as their extremely low possibilities to communicate. However, as these patients hardly ever reach the cognitive and motor development of infants older than two years, we hypothesized the level of their development may be assessed by means of an adapted version of the Brunet-Lézine (BL) Scale. Therefore, the aim of this study is to estimate the relevance of the use of the Brunet-Lézine Scale among PLH patients.PatientsForty patients (21 males and 19 females aged 4 to 54) were enrolled in two specialized French Rehabilitation Centers. They were all PLH patients with a combination of motor (pyramidal, extra pyramidal, cerebellar, neuromuscular) deficiencies and a profound mental retardation (IQ could not be assessed); they fully depended on caregivers for their everyday needs (FIM<30) and they had a very restricted mobility (GMFCS II to V).MethodsThe relevance of the use of Brunet-Lézine Scale among PLH patients was first assessed by describing the distribution of patients’ scores on the four dimensions of the scale. Then the structure of the scale was verified and the convergence of the scores at this scale with other relevant – while not sufficient – scores was assessed: FIM, GMFCS, and a clinical evaluation of sociability and verbalization by another independent caregiver.ResultsPLH patients tend to present low scores on the Brunet-Lézine Scale, which correspond to early developmental stages. Among PLH patients, it sounds more relevant to group the four dimensions of the Brunet-Lézine into two factors: motor activity (posture and coordination) and social interactions (language and sociability).Discussion/conclusionConvergence analyses suggest that the motor and social development of PLH patients may be reliably estimated by means of the Brunet-Lézine Scale

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Brain malformations involving the corpus callosum are common in children with developmental disabilities. We identified DCC mutations in four families and five sporadic individuals with isolated agenesis of the corpus callosum (ACC) without intellectual disability. DCC mutations result in variable dominant phenotypes with decreased penetrance, including mirror movements and ACC associated with a favorable developmental prognosis. Possible phenotypic modifiers include the type and location of mutation and the sex of the individual

Health characteristics and health care trajectory of polyhandicaped person before and after 1990

International audienc