Neuropsychological, psychiatric, and physical manifestations in 149 members from 18 fragile X families.

One hundred forty-nine subjects from 18 families with fragile X [fra(X)] syndrome were evaluated for their neuropsychological, psychiatric, and physical characteristics. The 36 fra(X) males had intelligence quotients ranging from less than 20 to 61, which prevented the delineation of a reliable neuropsychological profile. Behaviour fitted DSM-III-R and ADI diagnostic criteria of autism in only 2 subjects, both with very low intelligence level (IQ less than 20). Of 36 heterozygotes (HZ), 22 had an IQ between 20 and 80 and 14 between 81 and 99. The neuropsychological profile of the latter was compared with IQ-age-environment-matched 14 normal females and 14 normal males. Significantly poorer results in HZ were found on immediate digit memory and on Raven's progressive matrices (a visuo-spatial test of logical capabilities). The latter result, in conjunction with those results on the Bender visual-motor gestalt test and on some WAIS subtests, suggests a frequent deficit in spatial capabilities in such subjects. Such results tended to be confirmed by the profiles of the 22 HZ with IQ 20-80. No psychiatric abnormalities were found in HZ, except in one subject with IQ less than 20 which fitted DSM-III-R and ADI criteria for autism. Typical physical manifestations, especially cranio-facial, were more frequently present in the HZ group with lower IQ. Subnormal IQ was probably the most reliable abnormality for the detection of HZ in 49 females at 50% and 25% risk of heterozygosity.

Effects of gamma-globulin therapy in severely epileptic children.

The effects of gamma-globulin therapy have been studied from clinical, immunological, and electrographic perspectives in 10 children affected by severe organic epilepsy. After the first or the second injection of large doses of IgG, an appreciable reduction in seizure frequency and an improvement in behavioral and psychological performance were observed in seven children. These clinical modifications were not correlated with an important decrease of the EEG epileptic elements, but in most cases they were associated to an increase in alpha activity and/or in power of the predominant EEG frequency. These changes were observed during the entire treatment period and tended to disappear when therapy was interrupted. No significant changes in both immunological data and plasma levels of antiepileptic drugs accompanied the clinical and EEG changes.