Doris A. Trauner

Neurologic features of Williams and Down syndromes

Eight patients with Williams syndrome and 6 with Down syndrome, matched for age and full-scale IQ, underwent detailed neurologic testing as part of a large multidisciplinary research center study. Williams syndrome patients were small for gestational age and often had histories of failure-to-thrive and feeding problems as infants. Half of the Williams syndrome patients had epilepsy. On neurologic testing, Williams syndrome patients had greater difficulty with gross and fine motor coordination, oromotor skills, and cerebellar function than did those with Down syndrome. The neurologic distinctions between these 2 groups may reflect an underlying, as yet undefined, metabolic defect in Williams syndrome.

Cortical Atrophy and Cognitive Performance in Infantile Nephropathic Cystinosis

A group of children and adolescents with infantile nephropathic cystinosis underwent cognitive testing and were examined for cortical atrophy using magnetic resonance imaging or computed tomography. Ten of 11 patients demonstrated cortical atrophy. A consistent pattern of lower cognitive performance was found in patients with greater atrophy; however, only the relationship between atrophy and short-term memory approached statistical significance. In addition, evidence for greater impairment of visual memory than of other cognitive functions was observed. This latter observation did not appear to be related to the degree of atrophy.

Neurologic and cognitive deficits in children with cystinosis

Many neurologic symptoms occur with coughing paroxysms in patients with CF. Few seek medical advice for these symptoms. Rarely, a patient who reports these symptoms should be evaluated further for more serious neurologic conditions, including brain abscess. 12 However, for most patients it seems reasonable to offer reassurance that, although the symptoms may be alarming, the incidence of irreversible sequelae appears small.

Comprehension and expression of affect in language-impaired children

Eight children with developmental language impairment (LI) and eight age-, sex-, socioeconomic-status-, and I.Q.-matched controls were given tests of comprehension and expression of affective intent in spoken language and through facial expression. The LI children performed significantly more poorly than did controls in both comprehension and spontaneous expression of vocal affect. On tasks involving emotional facial expression, the opposite results were observed: The LI children were more dramatic in their expression of facial affect than were the controls. Children with language impairment appear to have a deficit in affective comprehension and expression that is modality-specific, i.e., limited to vocal affect. The heightened range of affective facial expression that they demonstrate may be a compensatory mechanism to offset their difficulties with vocal affect.

Effect of octanoate injection on rat blood-brain barrier

Serum concentrations of short and medium chain fatty acids, including octanoate, are elevated in hepatic encephalopathy and Reye syndrome. Injection of octanoate into animals produces features reminiscent of Reye syndrome, but the mechanisms are unknown. To evaluate the effect of octanoate on blood-brain barrier permeability, three techniques were used. Entry of horseradish peroxidase and trypan blue into brain was not observed after octanoate injection. Brain uptake of tryptamine, tyrosine and methionine was increased significantly by octanoate, while uptake of insulin was unchanged. This study suggests that octanoate may produce central nervous system alterations by facilitating entry of certain low molecular weight compounds into brain. This may represent one mechanism for the development of encephalopathy in liver disease and Reye syndrome.