Developmental medicine and child neurology
-
Dev Med Child Neurol · Jul 2014
Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum.
Benign hereditary chorea is a dominantly inherited, childhood-onset hyperkinetic movement disorder characterized by non-progressive chorea and variable degrees of thyroid and respiratory involvement. Loss-of-function mutations in NKX2.1, a gene vital to the normal development and function of the brain, lungs, and thyroid, have been identified in a number of individuals. ⋯ Our data suggest that the neurological phenotype is prominent in this condition and that many patients with benign hereditary chorea do not have the classic triad of brain-lung-thyroid syndrome. The extended phenotype may include obsessive-compulsive disorder and skeletal abnormalities.
-
Dev Med Child Neurol · Jun 2014
ReviewThe association between children's contact with people with disabilities and their attitudes towards disability: a systematic review.
The aim of this review was to systematically review and synthesize observational evidence of associations between children's naturally varying contact with people with disabilities and their attitudes towards disability. ⋯ Studies identified in this review generally indicate that children's contact with people with disabilities is associated with more positive attitudes towards disability. There is a need for more rigorous research to examine the effect of children's contact with people with disabilities on their attitudes towards disability.
-
Dev Med Child Neurol · Jun 2014
Motor impairment in very preterm-born children: links with other developmental deficits at 5 years of age.
To elucidate the relation between motor impairment and other developmental deficits in very preterm-born children without disabling cerebral palsy and term-born comparison children at 5 years of (corrected) age. ⋯ Complex minor neurological dysfunctions, low IQ, slow processing speed,and hyperactivity/inattention should be taken into account when very preterm-born children are referred for motor impairment.