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Leukoencephalopathy with swelling and a discrepantly mild clinical course ("van der Knaap disease") is a recently identified syndrome. It is characterised by macrocephaly occurring during the first year of life, initially normal or nearly normal development, and slowly progressive ataxia and spasticity with initial preservation of intellectual functions.(More)
Hypoplasia and aplasia of the optic nerve are congenital anomalies characterized respectively by a marked volume reduction (very small papilla, often identifiable only as a rosy-yellowish area from which the retinal vessels emerge) and by the absence of the optic disk (absence of the nerve and mainly of its vessels) and of the visual functions. These(More)
The aim of this research was to investigate whether the development of object permanence is an available sign of the cognitive development in infants with psychomotor handicaps. Subjects consisted of 5 males, ranging in age from 12 to 33 months, with handicaps as a result of perinatal brain injury. Four were preterm infants. All of the children received(More)
ACTH therapy induces transient behaviour disturbances (irritability, restlessness or drowsiness and apathy), parallel to the EEG. changes. These behaviour abnormalities have a positive relationship with cortisolemic levels and clinical results. A clear relationship between ACTH therapy and pseudoatrophic CT findings can be observed.
The salient features are described of the psychomotor treatment given to two sisters: SA aged 11 yrs 5 months and MGA aged 9 yrs 9 months both affected with aspecific congenital myopathy and under medical treatment since they were 3 months old. These two cases were selected as examples for the following reasons: (1) they may offer the opportunity to(More)
BACKGROUND Aim of this study is to verify whether tonus neurophysiological and communicative-relational aspects in hypotonic subjects can be recovered by psychomotor therapy. METHODS This case series includes two randomized groups of children with central hypotonia observed at the Department of Child Neuropsychiatry of the Gaslini Institute of Genova from(More)
Longterm effects of early rehabilitative treatment are evaluated in 37 premature infants at neurological risk. The late neurological and psychomotor development of this group of children (experimental group) is compared with that of another 35 at risk premature infants (control group), who received only conventional follow-up care. The two groups do not(More)
Leukoencephalopathy with swelling and a discrepantly mild clinical course is a recently identified syndrome described by van der Knaap et al. It is characterised by macrocephaly occurring during the first year of life, initially normal or nearly normal development, slowly progressive ataxia and spasticity with initial preservation of intellectual functions.(More)