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Few Quality of Life (QoL) instruments in use today were originally developed for older populations (75+). Information on their validity and reliability in this age group is sparse. The current study investigated the psychometric properties of the Life Quality Gerontological Centre Scale (LGC), a general QoL instrument designed for use among older people. A further aim was to describe and compare QoL with gender and in people needing help with Activities of Daily Living and those not needing such help. A postal questionnaire surveyed 1093 people (mean age 82.7, SD 5.3). Principal component analysis revealed that LGC was reasonably stable as the construct-and cross validation more or less replicated the suggested QoL factors. The instrument differentiated between needing help and not and between men and women. LGC needs further development with respect to reliability, face and content validity but is potentially useful as a diagnostic or an outcome assessment after interventions among older people. Individuals in need of help and women had lower scores in several QoL areas and in total QoL scores compared to those not needing help and men. Older people's QoL may be improved by interventions directed to areas beyond health and physical functioning. Men and women might also benefit from different interventions directed towards QoL.

Disialotransferrin developmental deficiency (DDD) syndrome is a recently described disease consisting of hepatopathy, mental retardation and neuropathy. The biochemical findings indicate a defect in the assembly of the carbohydrate moiety that is common to the secretory glucoproteins. It is believed to be of autosomal recessive inheritance. An ophthalmological examination of ten children suffering from this syndrome showed that all had ocular involvement. Esotropia (and deficient abduction) was found in all ten patients. Seven children had retinitis pigmentosa which was verified by an ERG in three. One patient had retinal signs suggestive of retinitis pigmentosa. The high incidence of ocular findings in the DDD syndrome, which are reported for the first time, indicate that an ophthalmological examination is a helpful diagnostic tool in this disease.

A girl fulfilling four/five of six inclusion criteria and eight/nine of 11 supportive criteria for atypical Rett syndrome had a cytogenetic deletion of chromosome 3p, del(3)(pter→3p25.1∼25.2). The deletion was situated on the maternally derived chromosome and by molecular analysis the deletion breakpoint was shown to be between DNA markers D3S3589 and D3S1263.