Data from 10 sites of the NICHD/NIDCD Collaborative Programs of Excellence in Autism were combined to study the distribution of head circumference and relationship to demographic and clinical variables. Three hundred thirty-eight probands with autism-spectrum disorder (ASD) including 208 probands with autism were studied along with 147 parents, 149 siblings, and typically developing controls. ASDs were diagnosed, and head circumference and clinical variables measured in a standardized manner across all sites. All subjects with autism met ADI-R, ADOS-G, DSM-IV, and ICD-10 criteria. The results show the distribution of standardized head circumference in autism is normal in shape, and the mean, variance, and rate of macrocephaly but not microcephaly are increased. Head circumference tends to be large relative to height in autism. No site, gender, age, SES, verbal, or non-verbal IQ effects were present in the autism sample. In addition to autism itself, standardized height and average parental head circumference were the most important factors predicting head circumference in individuals with autism. Mean standardized head circumference and rates of macrocephaly were similar in probands with autism and their parents. Increased head circumference was associated with a higher (more severe) ADI-R social algorithm score. Macrocephaly is associated with delayed onset of language. Although mean head circumference and rates of macrocephaly are increased in autism, a high degree of variability is present, underscoring the complex clinical heterogeneity of the disorder. The wide distribution of head circumference in autism has major implications for genetic, neuroimaging, and other neurobiological research.

Understanding of regression in autism has been hampered by variability in parental and clinical recognition and reporting of lost skills. This study introduced an instrument, the Regression Supplement Form, intended to supplement the Autism Diagnosis Interview-Revised and yield precise information about the types and timing of regression and events concurrent with loss and regain of skills. Data were collected from parents of 44 children (38 male, 6 female; mean age = 6 years) with Autistic Spectrum Disorder (37 Autistic Disorder, 7 Pervasive Developmental Disorder-Not Otherwise Specified). Parental responses on the Autism Diagnosis Interview-Revised indicated loss of skills during early development. The profile of regression that emerged included loss of skills between 18 and 21 months, on average, with language-only regression less common than loss of other, nonlanguage skills only or of full regression (loss of language and other skills). The onset of regression typically was gradual in nonlanguage areas and split between gradual and sudden loss for language skills. Some of the children were developing atypically before they lost other, nonlanguage skills, that is, their age at first words was delayed until age 2 years or older. Parents tended to attribute loss to medical factors such as immunizations. Many of the children regained some of the lost skills when they were 3.5-5 years of age, with therapeutic and instructional interventions given credit for the regain.

Objectives Dental erosion, the chemical dissolution of enamel without bacterial involvement, is a rarely reported manifestation of gastroesophageal reflux disease (GERD), as well as of recurrent vomiting and dietary habits. It leads to loss of tooth substance, hypersensitivity, functional impairment, and even tooth fracture. To date, dental erosions have been assessed using only very basic visual methods, and no evidence-based guidelines or studies exist regarding the prevention or treatment of GERD-related dental erosions. Methods In this randomized, double-blind study, we used optical coherence tomography (OCT) to quantify dental tissue demineralization and enamel loss before and after 3 weeks of acid-suppressive treatment with esomeprazole 20 mg b.i.d. or placebo in 30 patients presenting to the Berne University Dental Clinic with advanced dental erosions and abnormal acid exposure by 24-h esophageal pH manometry (defined as >4% of the 24-h period with pH < 4). Enamel thickness, reflectivity, and absorbance as measures of demineralization were quantified by OCT before and after therapy at identical localizations on teeth with most severe visible erosions as well as several other predefined changes in teeth. Results The mean±s.e.m. decrease of enamel thickness of all teeth before and after treatment at the site of maximum exposure was 7.2±0.16 μm with esomeprazole and 15.25±0.17 μm with placebo (P =0.013), representing a loss of 0.3% and 0.8% of the total enamel thickness, respectively. The change in optical reflectivity to a depth of 25 μm after treatment was −1.122 ±0.769 dB with esomeprazole and +2.059±0.534 dB with placebo (P = 0.012), with increased reflectivity signifying demineralization. Conclusions OCT non-invasively detected and quantified significantly diminished progression of dental tissue demineralization and enamel loss after only 3 weeks of treatment with esomeprazole 20 mg b.i.d. vs. placebo. This suggests that esomeprazole may be useful in counteracting progression of GERD-related dental erosions. Further validation of preventative treatment regimens using this sensitive detection method is required, including longer follow-up and correlation with quantitative reflux measures.

To evaluate the potential importance in autistic subjects of copy number variants (CNVs) that alter genes of relevance to bioenergetics, ionic metabolism, and synaptic function, we conducted a detailed microarray analysis of 69 autism probands and 35 parents, compared to 89 CEU HapMap controls. This revealed that the frequency CNVs of ≥ 100 kb and CNVs of ≥ 10 Kb were markedly increased in probands over parents and in probands and parents over controls. Evaluation of CNVs ≥ 1 Mb by chromosomal FISH confirmed the molecular identity of a subset of the CNVs, some of which were associated with chromosomal rearrangements. In a number of the cases, CNVs were found to alter the copy number of genes that are important in mitochondrial oxidative phosphorylation (OXPHOS), ion and especially calcium transport, and synaptic structure. Hence, autism might result from alterations in multiple bioenergetic and metabolic genes required for mental function.

OBJECTIVE To examine the incidence of incisional hernias (IHs) and propose a simple modification to reduce the incidence of IHs. Robot-assisted radical prostatectomy (RARP) historically uses a vertical midline camera port incision to extract the prostate. METHODS Of 900 consecutive RARPs, the initial 735 had a vertical and subsequent 165 transverse incisions. Two methods were used to identify IHs: clinic visits noted in the prospective database and screening using electronic mail. We compared the baseline factors between the vertical IH and IH-free cohorts. The maximal scar width was recorded in 178 consecutive men presenting to our clinic: vertical (n = 107) and transverse (n = 71). RESULTS IHs occurred significantly more often after a vertical incision (5.3% vs 0.6%, P = .005). The IH rates after a vertical incision could be estimated to be as great as 16.7% (18 of 108) using the electronic mail respondents or as low as 3.3% (21 of 627) according to clinic follow-up. On univariate analysis, baseline age, International Index of Erectile Function 5-item questionnaire, prostate weight, bother score (all P ≤ .05), and body mass index (P = .058) were associated with an increased risk of an IH. After adjusting for baseline factors on multivariate logistic regression analysis, the relative odds of developing an IH with a vertical versus transverse incision was 11 (95% confidence interval 1.5–82). The average maximal scar width was reduced from 5.5 to 2.0 mm (P < .0001). CONCLUSION In the present sample population, the vertical IH rate was estimated to be potentially as low as 3.3% or as great as 16.7%. On multivariate analysis, a greater body mass index and larger prostate size significantly increased the risk of hernia development. Transverse incisions dramatically reduced the rate of IHs and the maximal scar width. The IH rates varied significantly by reporting method.