In this study we describe the levels of clinically significant behavior in participants with Sotos syndrome relative to three matched contrast groups in which the behavioral phenotype is well documented (Autism Spectrum Disorder, ASD; Prader-Willi, and Down syndromes). Parents and carers of 38 individuals with Sotos syndrome (mean age = 17.3; SD = 9.36), completed questionnaires regarding self-injury, aggression, repetitive behavior, autism spectrum phenomenology, overactivity, impulsivity and mood, interest and pleasure. Individuals with Sotos syndrome showed an increased risk of self-injurious behavior, physical aggression, and destruction of property relative to the Down syndrome group but not a greater risk of stereotyped behavior. Impulsivity and levels of activity were also significantly higher relative to those with Down syndrome and comparable to those with ASD. A large proportion of participants met the cut off score for ASD (70.3%) and Autism (32.4%) on the Social Communication Questionnaire. Social impairments were particularly prominent with repetitive behavior and communication impairments less characteristic of the syndrome. Interestingly, preference for routine and repetitive language were heightened in individuals with Sotos syndrome and the repetitive behavior profile was strikingly similar to that observed in individuals with Prader-Willi syndrome. These findings build upon previous research and provide further evidence of the behavioral phenotype associated with Sotos syndrome.

A small number of recent papers have described individuals with intellectual disabilities and microdeletions in chromosome band 19p13.2. However, little is known about the behavioral characteristics of individuals with microdeletions in this area. The current study examines behavioral characteristics of a series of 10 participants ranging in age from 2 to 20 years with 19p13.2 microdeletions. Parents/caregivers completed a series of established behavioral measures which have aided the elucidation of the behavioral phenotypes of a number of genetic neurodevelopmental syndromes. All but the youngest two participants (aged 2 and 3 years) were verbal, ambulant, and classified as "partly able" or "able" with regard to self-help skills. Six of eight participants for whom a screening measure for autism spectrum disorders (ASD) could be deployed met criteria for an ASD. Six of the 10 participants had displayed self-injurious behavior in the month prior to assessment, eight had displayed destruction/disruption of property, and eight had shown physically aggressive behaviors. Repetitive behaviors were prevalent in the sample (with all participants displaying at least one repetitive behavior to a clinically relevant level), as were problems with sleep. Low mood was not prevalent in this group, and nor were overactivity or impulsivity. Full determination of a behavioral phenotype for this group would require a larger sample size, distinguishing between genetic subtypes. However, the current data suggest that ASD characteristics, repetitive, and challenging behaviors (such as aggression and self-injury) might be associated with 19p13.2 microdeletions, providing a basis for future investigation.

Introduction FNA is the optimal test for classifying concerning thyroid nodules. Approximately 15-30% of FNAs are indeterminate, representing diagnostic challenge with intra- and inter-observer variability among cytologists. The Bethesda System (BS) for cytopathology was created in 2007 to standardize thyroid cytology with corresponding malignancy risk. Our goal is to identify the incidence of atypia of undetermined significance/follicular lesion of undetermined significance (AUS/ FLUS) and the percent of malignant AUS/FLUS cases at our institution. Methods Chart review of 3068 adult patients with FNA performed from 2003 to 2015 was completed, with attention to reports considered "indeterminant". BS for reporting thyroid cytology was not in use at our institution during that time. Cytopathology reports were evaluated for key descriptors concerning for AUS, FLUS, or follicular neoplasm. Results 461 cytology reports included language consistent with possible "indeterminate" cytology. These reports were reviewed with our institution's cytopathologist and retrospectively assigned an equivalent BS category. 241 cases were consistent with BS category III (7.86% of all thyroid nodule FNAs done during this time period). Molecular marker studies were not being performed at our institution on indeterminate thyroid cytology specimens during this time period. Of the patients who had indeterminate cytology consistent with BS category III, 66.3% (160/241) went for surgery. The malignancy rate was 27.5% (44/160) in the BS category III group. Conclusion Our data demonstrated that category III nodules in some practice settings may have a higher risk of malignancy than traditionally believed, and that guidelines recommending repeat FNA or observation merit reconsideration. Molecular marker testing on indeterminate thyroid cytology specimens has been shown to be helpful in determining cases for surgery and is now being utilized at our institution. Presentation: No date and time listed