AIM The aim of this study was to evaluate an interdisciplinary visual assessment for multiply challenged children diagnosed with cerebral palsy (CP).METHOD A comprehensive ophthalmological assessment together with a visual classification scale (VCS) and a questionnaire evaluating daily visual function were completed regarding 77 children (41 females, 36 males; age range 3-20y; mean age 8y 3mo [SD 4y 3mo]; Gross Motor Function Classification System [GMFCS] level V; Manual Ability Classification System level V) who were diagnosed with CP (79.2% spastic quadriplegia, 6.5% athetoid quadriplegia, 10.4% mixed type, 3.9% hemiplegia). All participants had severe to profound motor and intellectual disability and an inability to communicate consistently through either verbal or assisted communication. The interrater and test-retest reliability of the questionnaire and its validity in comparison with the VCS were examined. In addition, the contribution of ophthalmological testing in predicting daily visual function was assessed.

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Our findings indicate that severe infantile thiamine deficiency may result in epilepsy.

We report on 6 patients with short stature and progressive enchondromatous-like changes of the vertebral bodies and the metaphyses of the long bones. Parental consanguinity was observed in 5 of 6 cases, supporting autosomal recessive inheritance. In spite of the similarity in radiographic changes and body proportions, genetic heterogeneity is suggested by the presence of CNS calcifications in 3 patients. Two of the latter had progressive quadriparesis. We tentatively classified these patients into 2 provisional types. An iliac crest biopsy in one of the patients with "type I" disease did not demonstrate enchondromatosis. Light and transmission electron microscopic studies demonstrated large cisterns and small inclusion bodies containing a flocculent material within the rough endoplasmic reticulum of the chondrocytes. Based on the histological and radiographic findings, we propose to classify these conditions among the spondylometaphyseal skeletal dysplasias.

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Parents and teachers of children following severe TBI differ in their reports on a child's emotional and behavioural problems. The present study not only underscores the importance of multiple informants, but also highlights, for the first time, the possibility that informants' perceptions may vary across time.

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