Understanding relationships between autism,intelligence, and epilepsy: a cross‐disorder approach

Aim As relationships between autistic traits, epilepsy, and cognitive functioning remain poorly understood, these associations were explored in the biologically related disorders tuberous sclerosis complex (TSC), neurofibromatosis type 1 (NF1), and epilepsy. Method The Social Responsiveness Scale (SRS), a quantitative measure of autistic traits, was distributed to caregivers or companions of patients with TSC, NF1, and childhood‐onset epilepsy of unknown cause (EUC), and these results were compared with SRS data from individuals with idiopathic autism spectrum disorders (ASDs) and their unaffected siblings. Scores and trait profiles of autistic features were compared with cognitive outcomes, epilepsy variables, and genotype. Results A total of 180 SRS questionnaires were completed in the TSC, NF1, and EUC outpatient clinics at the Massachusetts General Hospital (90 females, 90 males; mean age 21y, range 4–63y), and SRS data from 210 patients with ASD recruited from an autism research collaboration (167 males, 43 females; mean age 9y, range 4–22y) and 130 unaffected siblings were available. Regression models showed a significant association between SRS scores and intelligence outcomes (p<0.001) and various seizure variables (p<0.02), but not with a specific underlying disorder or genotype. The level of autistic features was strongly associated with intelligence outcomes in patients with TSC and epilepsy (p<0.01); in patients with NF1 these relationships were weaker (p=0.25). For all study groups, autistic trait subdomains covaried with neurocognitive comorbidity, with endophenotypes similar to that of idiopathic autism. Interpretation Our data show that in TSC and childhood‐onset epilepsy, the severity and phenotype of autistic features are inextricably linked with intelligence and epilepsy outcomes. Such relationships were weaker for individuals with NF1. Findings suggest that ASDs are not specific in these conditions.     

South American pemphigus foliaceus: Study of an epidemic in El Bagre and Nechi, Colombia 1982 to 1986

Between 1982 and 1986 we have had the chance to study 21 patients with pemphigus foliaceus of the 'fogo selvagem' type. The patients came from El Bagre and Nechi, rural areas of Colombia with some gold mining. This is the first outbreak of South American pemphigus foliaceus reported in Colombia. The majority of the patients were mestizo men, who worked as farmers or miners or both, with an average age of 44. Five patients were relatives. Eleven patients (52%) had mild disease, three (14%) moderate disease and seven (33%) severe disease. During hospitalization, three patients died due to complications or as a result of immunosuppressive treatment. Of the remaining 18 patients, 10 were in remission with treatment, one was in remission without treatment, while no information was available on the remaining seven.     

THE ROLE OF THE CIRCULATION IN MEASUREMENTS OF SKIN CONDUCTIVITY

Summary.— Measurements of skin conductivity using silver disc and multiplint electrodes have been described. Comparisons with skin temperature measurements using thermistor probes have been made, and a parallel between the two parameters demonstrated. A connection between skin conductivity and blood flow was suggested, and confirmed by the effects on conductivity of exercise and the intradermal injection of adrenaline and histamine under the electrode site. The implications of this are discussed and a possible role of such measurements in the clinic is mentioned.