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From an early age, individuals with autism spectrum disorder (ASD) spend less time engaged in social interaction compared to typically developing peers (TD). One reason behind this behavior may be that the brains of children diagnosed with ASD do not attribute enough value to potential social exchanges as compared to the brains of typically developing children; thus, potential social exchanges are avoided because other environmental stimuli are more highly valued by default. Neurobiological investigations into the mechanisms underlying value-based decision-making has shown that the ventral medial prefrontal cortex (vmPFC) is critical for encoding the expected outcome value of different actions corresponding to distinct environmental cues. Here, we tested the hypothesis that the responsiveness of the vmPFC in children diagnosed with ASD (compared to TD controls) is diminished for visual cues that represent highly valued social interaction. Using a passive picture viewing task and functional magnetic resonance imaging (fMRI) we measured the response of an a priori defined region of interest in the vmPFC in children diagnosed with ASD and an age-matched TD cohort. We show that the average response of the vmPFC is significantly diminished in the ASD group. Further, we demonstrate that a single-stimulus and less than 30 s of fMRI data are sufficient to differentiate the ASD and TD cohorts. These findings are consistent with the hypothesis that the brains of children with ASD do not encode the value of social exchange in the same manner as TD children. The latter finding suggests the possibility of utilizing single-stimulus fMRI as a potential biologically based diagnostic tool to augment traditional clinical approaches. Wellcome Trust Principal Research Fellowship; Kane Family Foundation; Autism Speaks; Charles A. Dana Foundation; National Institutes of Health [RO1 DA11723, RO1 MH085496, T32 NS43124, UL1TR001420-KL2] This work was funded by a Wellcome Trust Principal Research Fellowship (PRM), Kane Family Foundation (PRM), Autism Speaks (PRM), the Charles A. Dana Foundation (PRM) and the National Institutes of Health (RO1 DA11723 (PRM), RO1 MH085496 (PRM), T32 NS43124 (KTK), UL1TR001420-KL2 (KTK)). The authors would like to thank the NEMO software development team for their assistance in programming the stimulus presentation scripts, and the Human Neuroimaging Laboratory's technological staff for their assistance with recruitment and scanning.

Increased public awareness of autism spectrum disorders (ASD) and routine screening in primary care have contributed to increased requests for diagnostic ASD evaluations. However, given the scarcity of subspecialty autism diagnostic resources, overreferral of children suspected of having ASD may be contributing to long waiting lists at tertiary care autism centers and delaying diagnosis for those children who truly have ASD. To determine whether children are being excessively referred to ASD-specific diagnostic clinics, our objective was to determine the prevalence of true ASD diagnoses in children referred for diagnostic ASD evaluation. Charts of all patients referred to a regional autism center between April 2011 and August 2012 for suspicion of a possible ASD were retrospectively reviewed and demographic and clinical diagnoses abstracted. Only 214 of 348 patients evaluated (61%) received an ASD diagnosis. Thus, concerns about autism are not confirmed by an ASD diagnosis in a significant number of children.

Mutations in Methyl-CpG-Binding protein 2 (MECP2) are commonly associated with and the neurodevelopmental disorder Rett syndrome (RTT). However, some people with RTT do not have mutations in MECP2, and interestingly there have been people identified with MECP2 mutations that do not have the clinical features of RTT. In this report we present four people with neurodevelopmental abnormalities and clear RTT-disease causing MECP2 mutation but lacking the characteristic clinical features of RTT. One patient's symptoms suggest an extension of the known spectrum of MECP2 associated phenotypes to include Global Developmental Delay (GDD) with Obsessive Compulsive Disorder (OCD) and Attention Deficit Hyperactivity Disorder (ADHD). These results furthermore reemphasize that RTT should remain a clinical diagnosis, based on the recent refurbished consensus criteria.

Purpose: Despite growing concerns toward maintaining participants' privacy, individual investigators collecting tissue and other biological specimens for genomic analysis are encouraged to obtain informed consent for broad data sharing. Our purpose was to assess the effect on research enrollment and data sharing decisions of three different consent types (traditional, binary, or tiered) with varying levels of control and choices regarding data sharing. Methods: A single-blinded, randomized controlled trial was conducted with 323 eligible adult participants being recruited into one of six genome studies at Baylor College of Medicine in Houston, Texas, between January 2008 and August 2009. Participants were randomly assigned to one of three experimental consent documents (traditional, n = 110; binary, n = 103; and tiered, n = 110). Debriefing in follow-up visits provided participants a detailed review of all consent types and the chance to change data sharing choices or decline genome study participation. Results: Before debriefing, 83.9% of participants chose public data release. After debriefing, 53.1% chose public data release, 33.1% chose restricted (controlled access database) release, and 13.7% opted out of data sharing. Only one participant declined genome study participation due to data sharing concerns. Conclusion: Our findings indicate that most participants are willing to publicly release their genomic data; however, a significant portion prefers restricted release. These results suggest discordance between existing data sharing policies and participants' judgments and desires.

Objective: To describe the cognitive and behavioral phenotypic features of the Potocki-Lupski syndrome (duplication 17p11.2), a recently recognized syndrome with multiple congenital anomalies and developmental delays. Method: Fifteen subjects were enrolled in an extensive multidisciplinary clinical protocol. Cognitive and behavior evaluations included a parent-report medical and psychological history form, intellectual assessment and assessments of adaptive behavior, executive functioning, and maladaptive behavior and emotions. Eight of the families completed an Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule-Generic. Results: The majority of patients (13 of 15) presented with intellectual disability. Moreover, the majority of patients also had moderate to severe behavioral difficulties, including atypicality, withdrawal, anxiety, and inattention. Many patients characterized also presented with autistic symptom pictures, some of whom (10 of 15) met diagnostic criteria for an autistic spectrum disorder, namely autistic disorder or pervasive developmental disorder not otherwise specified. Conclusion: This work expands on the behavioral phenotype of duplication 17p11.2 (Potocki-Lupski syndrome). Further phenotypic analysis will aid in clinical diagnosis, counseling, and management of this newly characterized microduplication syndrome. The association between this syndrome and autistic spectrum disorder may contribute to further understanding the etiology of the pervasive developmental disorders.

Limited evidence suggests that the prevalence of mental retardation (MR) – now called “intellectual disability” (ID) – in ASD ranges between 25.8% and 58.5%, with co-occurrence in 66–70% of children who meet strict criteria for autism. However, parents and professionals differ significantly in their understanding of or opinions about intellectual functioning among children with ASD. The current study analyzed archival data to calculate the prevalence of parent-reported MR among children with ASD (N = 498). Collectively, 9.2% of families affirmed MR; when analyzed by type of ASD, the rates for those with autism and PDD-NOS were 12.6% and 7.3%, respectively. A variety of explanations for these low rates are posited alongside implications for clinical practice and families’ receipt of services.

We present the case of a 14-year-old Hispanic boy with a 6-month history of a psychotic disorder necessitating several hospitalizations who was incidentally found to have multiple sclerosis with no physical findings. Neuropsychological assessment has revealed impairments in word-finding, bilateral fine motor skills, and attention. Imaging and laboratory studies have supported the diagnosis of multiple sclerosis. Steroid and immunomodulating therapy has not significantly affected psychiatric symptoms. He has had poor response to psychotropic medications as well. We discuss the implications of multiple sclerosis as the cause of this patient's psychiatric illness.

Studies of children experiencing disasters date back to the 1950s. Early studies were flawed by reliance on parent report alone and collection of data long after the disaster. Multiple factors influence response to disasters. These include features of the disaster, such as scope, duration, timing and causation, and features of the victims, such as age, intelligence, prior exposure to traumas, and pre-existing psychiatric disorders. Expected responses to disasters are outlined for each developmental stage. Identification of risk factors and intervention strategies, such as parental education, debriefing, trauma narratives, and medication, are discussed. Outcomes of disaster exposure, including acute stress disorder, post-traumatic stress disorder and the development of other psychiatric disorders are reviewed.

The face is the primary tool of human communication. In early childhood, the face plays a crucial role in bonding and attachment. Severe craniofacial problems may alter bonding and attachment, thereby resulting in future risk for emotional, behavioral, and social problems. Clinical and research findings, while incomplete, suggest that this is the case. This conceptual understanding of the key role of face-to-face communication in early childhood provides a compelling rationale for early repair of craniofacial deformations.