Six new patients with the Cohen syndrome are reported from Finland and 25 published cases from elsewhere are reviewed. New findings are consanguinity among two pairs of parents, granulocytopenia, and marked ophthalmological changes: decreased visual acuity, hemeralopia, constricted visual fields, chorioretinal dystrophy with bull's‐eye‐like maculae and pigmentary deposits, optic atrophy, and isoelectric electroretinogram. Previously known features of the Cohen syndrome (non‐progressive mental retardation, short stature, microcephaly, peculiar facies, slender hands and feet, floppiness, delayed puberty) are confirmed or revised.
The ophthalmological features merit attention in the previous and future suspected cases of the Cohen syndrome. Autosomal recessive inheritance can be taken for granted.
A nine-year follow-up of 116 children born consecutively in 1971-74 with a birthweight of 1 500 g or less showed that 59 had died. Of those who were alive, four had severe motor and/or mental handicaps and three were blind because of retrolental fibroplasia. The low birthweight children without severe handicaps were found to have impaired motor function, speech defects and impaired school achievement more often than the controls. There was a significant correlation between the test results at the age of five and nine years, which indicates that children with school failure can be recognized and early remedial treatment started before school or on starting school.
Magnetoencephalographic (MEG) discharges were recorded with multichannel superconducting quantum interference device (SQUID) gradiometers in 13 young candidates for epilepsy surgery. The sources of epileptic activity were related to generators of somatosensory and auditory evoked cortical responses and projected on magnetic resonance imaging (MRI) scans. Seven subjects had restricted or regional MEG foci, located in the frontoopercular (1), sensorimotor (3), perisylvian (1), mesiotemporal (1), or temporooccipital cortex (1). The MEG foci in the 3 patients who underwent operation agreed with the intracranial findings. Findings in the other patients emphasize the need to collect further data to define the ultimate role of MEG in preoperative evaluation of epilepsy.
The motor skills of 382 children with neonatal risk factors and 107 children with no risk factors, in the age group 8-9 years, were studied using the Test of Motor Impairment (Stott-Moyes-Henderson). Neonatal disturbances, such as low birthweight and neurological symptoms were associated with marked clumsiness. The test performance was found, unexpectedly, to be significantly affected by age and sex in both the study and the control group. The test items were the same for an age range of one whole year, with no allowance for continuous development of skills. The need of normative data for each country is stressed.
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