Aetiological findings and associated factors in children with severe mental retardation

Abstract

The purpose of this study, through a retrospective epidemiological survey carried out over three geographical areas in France, was to characterize the aetiological factors involved in severe mental retardation (SMR) within a geographically defined population of children with disabilities aged between 7 and 16 years. The inclusion criteria for SMR (IQ<50) were met by 1150 children born between 1976 and 1985. Of these children, aetiology was known in 25%, suspected (or unclear) in 26%, and unknown in 49%. These rates of known and suspected aetiology varied between the groups of children with CP and those without CP. An analysis of factors associated with SMR was undertaken among the 144 subjects with SMR, of suspected or unknown aetiology, who had been referred to a neonatal care unit with or without intensive care (NCU) during their neonatal period. These subjects with SMR were compared with 864 children without SMR (control children) who were also referred to an NCU during their neonatal period. The main specific associated factors were a prolonged intubation of more than 24 hours, a very low birthweight (<1500 g) for children with an associated clinical feature of CP, and the presence of isolated neonatal fits and a time of transfer to the NCU of more than 4 hours after birth for children without an associated clinical feature of CP. Although common associated factors were encountered in the children with SMR with CP and the children with SMR without CP, the results of this study suggest differences in the underlying pathogenic factors.

Monitoring the prevalence of severe intellectual disability in children across Europe: feasibility of a common database

“…Although statistics are kept at the national or regional level in several European Union member states, the lack of standardization of definitions and in recruiting and including cases, 5 makes cross-country comparison of prevalence difficult, and the data may be of little use for planning, monitoring, and evaluation of national and regional policies. 6 Furthermore, the overall prevalence of intellectual disability is around 1% in Europe, but that of severe intellectual disability (including the moderate severe and profound categories, but excluding mild intellectual disability) is only 0.4%, 7 making the number of children in the latter group within one database insufficient for studying specific subgroup characteristics, examples of which include males born with a low birth weight, 8 the proportion of children with epilepsy frequenting mainstream school, and issues of aetiology 9,10 and social class distribution. 11 Different definitions, classifications, and ascertainment methods for intellectual disability that exist across the world continue to challenge the field of epidemiology.…”

Neurodevelopmental profile of a new dysmorphic syndrome associated with submicroscopic partial deletion of 1p36.3

“…The prevalence of severe learning disability (SLD), as defined by an IQ <50, is fairly homogeneous among different populations studied and remains around 3 per 1000 children (Murphy et al 1995, Cans et al 1999. In approximately half of the children the cause of their SLD is unknown.…”

“…In approximately half of the children the cause of their SLD is unknown. In a regional study from France (Cans et al 1999(Cans et al ) of 1150(Cans et al children (born between 1976(Cans et al and 1985 whose case notes were retrospectively surveyed, the aetiology was considered definitely known in a quarter (of which two thirds had trisomy 21), another quarter had possible or suspected aetiology, and the causation was unknown in the remainder. Among 565 paediatric patients with learning disability and congenital abnormalities, in whom the aetiological diagnosis had not yet been made, who were investigated by Ohdo and colleagues (1992) by clinical evaluation and karyotypic analysis, the primary aetiology was elucidated in 54%.…”

Adaptação transcultural parcial da escala Aberrant Behavior Checklist (ABC), para avaliar eficácia de tratamento em pacientes com retardo mental

“…Cerca de 70 a 85% dos pacientes com transtorno de desenvolvimento apresentam alterações comportamentais que não são tratadas ou sequer diagnosticadas. Muitas destas condições podem acarretar delírios e quadro psicótico 6,7 . Apenas cerca de 5% a 10% dos portadores de retardo tornam-se adultos independentes, 25% têm alguma melhora, mas ainda necessitam de supervisão, enquanto que o restante continua incapacitado, requerendo institucionalização para melhores cuidados, redundando em alto custo familiar e comunitário 8 .…”