This study assessed the relationships between maternal systemic lupus erythematosus (SLE) or rheumatoid arthritis (RA) and risk for autism spectrum disorders (ASDs) in offspring. Seven observational studies, including 25,005 ASD cases and 4,543,321 participants, were included for meta-analysis. Pooled results by using random-effects models…

The aim of this retrospective study, with prospective data collection, was to correlate congenital cytomegalovirus (CMV) infection with autism spectrum disorder (ASD) and to define its prevalence. Seventy proven congenitally-infected infants, born between 2007 and 2012, were referred to our centre for CMV diagnosis and follow-up, which consisted…

The article presents a case history of a boy with both infantile autism and histidenia (an inborn error of amino acid metabolism), and discusses the possible relationship between the two conditions. (DLS)

Reviews the research on the relationship of autism and pervasive developmental disorders to tuberous sclerosis (TSC). Notes that, among TSC cases, the frequency of autism is 25% and among autistic populations, the frequency of TSC is 1% to 4%. It is thought that an abnormal TSC gene may directly influence the development of autism. (DB)

Evaluation of the frequency of ear infections, ear tube drainage, and deafness for 51 autistic children (ages 2-18) indicated that autistic children had a greater incidence of ear infections than matched normal peers and lower functioning children had an earlier onset of ear infections than higher functioning autistic peers. (Author)

Analysis of data from 126 children with autism found macrocephaly (head circumstance microcephaly (head circumference <3rd centile) was found in 15.1%. Microcephaly was significantly associated with the presence of medical disorders. (Author/DB)

The developmental history of a 14-year-old male with Klinefelter's Syndrome (XXXXY) is described. The boy's physical development was consistent with many patterns described in the XXXXY literature, although his retardation was not as severe as expected from the literature. (Author/DB)

The frequency and clinical presentation of autism in 28 probands with tuberous sclerosis complex (TSC), an autosomal dominant disorder characterized by benign tissue growths and a high frequency of seizure disorders and mental retardation, was examined. Eight probands met criteria for autism. Implications for understanding the association of…

This report presents three case reports of male children who meet criteria for autism and also Aarskog syndrome, a genetic disorder characterized by hypertelorism, short nose, long philtrum, short stature, brachydactyly, and shawl scrotum. Two of the children also presented with severe mental retardation. (DB)

A study investigated the incidence of autism in 20 patients with tuberous sclerosis complex (TSC). The prevalence of autistic disorder was conservatively estimated at 20%. Data suggest a possible association between both hypsarrythmia and TSC-related cardiac abnormalities with autism in this subgroup of individuals with TSC. (Author/CR)

The study examined cognitive and emotional aspects of development in four infants treated from 10 to 52 months in a reverse isolation environment because of congenital severe combined immunodeficiency disease. Case material is discussed with reference to severe disruption of oral feeding experience, quality of parental involvement, and sensory…

This study compared 29 females with Turner syndrome and 21 females with fragile X syndrome (ages 6-22) on a videotaped role-play interaction with 34 females in a comparison group. Three of eight behavioral measures of social skills differentiated the participant groups. Fragile-X subjects required more time to initiate interactions and Turner…

Parents of 42 children (ages 2-32) with Lesch-Nyhan disease were questioned concerning the subjects' behavior patterns. Grouping of responses into nine categories of cognitive skills indicated that only one boy showed any significant cognitive impairment. Despite evidence of good cognitive and emotional skills, subjects were academically delayed,…

A study of 211 children and adults with autism (n=81), other pervasive development disorders (PDD) (n=24), and conditions other than PDD (n=106) found the prevalence of medical conditions with suspected etiologic relationships with autism varies between 10 and 15%, depending on the diagnostic system employed. (Author/CR)