Traditional psychology has held the view that mentally healthy people have a good grasp of reality. However, studies on self-concept, perceived control and optimism have shown that mentally healthy people have a tendency to distort reality in these areas in a positive, self-serving direction. These studies led Shelley Taylor to coin the term "positive illusions" to describe overly positive self-evaluations, exaggerated perceptions of control, and unrealistic optimism. Taylor also theorized that those who were depressed had fewer positive illusions than those who were not depressed. The current study attempted to extend the foundation of basic research on the concept of positive illusions as well as their relationship to depression. Participants were given questionnaires at two time points (summer and winter) that measured the three components of positive illusions as well as Seasonal Affective Disorder (SAD), or winter depression. It was expected that those who had SAD would be depressed in the winter and therefore have fewer positive illusions at that time than in the summer when they were less depressed. Significant positive correlations between selfconcept, perceived control, and optimism indicated shared variance which is consistent with the existence of an underlying variable, i.e. positive illusions. Though results showed no difference in positive illusion scores between summer and winter, those with higher SAD scores (signifying greater depression) had fewer positive illusions at both time points than those with lower SAD scores. Finally, the remarkable similarity between positive illusion scores at the two time points suggests that positive illusions may exist as a personality trait, rather than being state dependent. Drawbacks of this study and suggestions for future research are discussed.

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CASE: A 6-year-old boy with a diagnosis of autism spectrum disorder (ASD) presented to primary care for a newpatient, transfer-of-care evaluation. At the initial encounter, the patient used a maximum of 60 words and was receiving speech and language therapy (SLT) through school. Family history was positive for seizures in the father and paternal grandfather as well as ASD in an older brother. Referrals to genetics, private SLT, and an autism specialist were offered, although the latter was declined by family. The subsequent genetics evaluation resulted in discovery of a small gain on chromosome 1q42.2 and associated partial duplication of the DISC1 gene. The assay could not determine the exact clinical significance of the abnormality, but similarly sized and located abnormalities involving the DISC1 gene are reported in some patients with ASD and developmental delay. During a follow-up pediatrics appointment, the father expressed his wish for further evaluation of causes of autism spectrum disorder (ASD) and requested an electroencephalography (EEG) evaluation. The family concomitantly reported slow improvement in speech with therapy, the use of up to 200 words, and the ability to count to 10. The primary care physician reiterated that EEG and imaging studies are not indicated for an isolated ASD diagnosis with no supporting history or physical examination indications. The clinician discussed ASD-recommended therapies with the family. Neurology referral was made per parental request. The patient subsequently presented to neurology at the age of 7 years. The parents reiterated during the initial neurologic developmental history that the patient had shown some improvement with speech and language therapy in the past 18 months, knew as many as 200 to 300 words, and could put some words together into simple sentences. Gross and fine motor development were felt to be within the normal range for age. The parents also reported some scripting, and mild echolalia was noted on examination. Notably, there was no history of language regression. Apart from language delay, the neurologic examination was otherwise normal at initial evaluation. Given this clinical picture, ASD treatment options were again discussed. Despite education, parents continued to request for EEG evaluation as a workup for the etiology of the patient's ASD. Electroencephalography was ultimately ordered owing to the strong and repeated paternal request despite denial of any seizure-like episodes in the patient. EEG unexpectedly showed extremely frequent, almost constant focal electrographic seizures arising from the T3/T5 electrodes in the speech area of the left temporal lobe, prompting the initiation of oxcarbazepine maintenance therapy. Because of the noted abnormalities on EEG, magnetic resonance imaging (MRI) was obtained. Mild abnormalities were noted on MRI study including possible minimal inferior cerebellar vermian hypoplasia, mildly prominent bodies of the lateral ventricles, and nonspecific, nonenhancing punctate T2 hyperintensities in the subcortical white matter. These findings were not felt to be clinically relevant to the patient's presentation or seizure evaluation. No repeat imaging was ordered. Hindsight is always 20/20. As a clinician evaluating the patient initially, would you have pursued further workup sooner?

Submitted to the faculty of the Bioinformatics Graduate Program in partial fulfillment of the requirements for the degree Master of Science in the School of Informatics, Indiana University August 2005 / Protein regions which lack a fixed structure are called ‘disordered’. These intrinsically disordered regions are not only very common in many proteins, they are also crucial to the function of many proteins, especially proteins involved in signaling and regulation. The goal of this work was to identify the prevalence, characteristics, and functions of conserved disordered regions within protein domains and families. A database was created to store the amino acid sequences of nearly one million proteins and their domain matches from the InterPro database, a resource integrating eight different protein family and domain databases. Disorder prediction was performed on these protein sequences. Regions of sequence corresponding to domains were aligned using a multiple sequence alignment tool. From this initial information, regions of conserved predicted disorder were found within the domains. The methodology for this search consisted of finding regions of consecutive positions in the multiple sequence alignments in which a 90% or more of the sequences were predicted to be disordered. This procedure was constrained to find such regions of conserved disorder prediction that were at least 20 amino acids in length. The results of this work were 3,653 regions of conserved disorder prediction, found within 2,898 distinct InterPro entries. Most regions of conserved predicted disorder detected were short, with less than 10% of those found exceeding 30 residues in length. Regions of conserved disorder prediction were found in protein domains from all available InterPro member databases, although with varying frequency. Regions of conserved disorder prediction were found in proteins from all kingdoms of life, including viruses. However, domains found in eukaryotes and viruses contained a higher proportion of long regions of conserved disorder than did domains found in bacteria and archaea. In both this work and previous work, eukaryotes had on the order of ten times more proteins containing long disordered regions than did archaea and bacteria. Sequence conservation in regions of conserved disorder varied, but was on average slightly lower than in regions of conserved order. Both this work and previous work indicate that in some cases, disordered regions evolve faster, in others they evolve slower, and in the rest they evolve at roughly the same rate. A variety of functions were found to be associated with domains containing conserved disorder. The most common were DNA/RNA binding, and protein binding. Many ribosomal protein families also were found to contain conserved disordered regions. Other functions identified included membrane translocation and amino acid storage for germination. Due to limitations of current knowledge as well as the methodology used for this work, it was not determined whether or not these functions were directly associated with the predicted disordered region. However, the functions associated with conserved disorder in this work are in agreement with the functions found in other studies to correlate to disordered regions. This work has shown that intrinsic disorder may be more common in bacterial and archaeal proteins than previously thought, but this disorder is likely to be used for different purposes than in eukaryotic proteins, as well as occurring in shorter stretches of protein. Regions of predicted disorder were found to be conserved within a large number of protein families and domains. Although many think of such conserved domains as being ordered, in fact a significant number of them contain regions of disorder that are likely to be crucial to their function.

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Pedophilia, now termed pedophilic disorder, has been consistently defined by mental health professionals, social scientists, and historians as sexual interest in prepubescent children. In this chapter, we review evolving professional definitions of this disorder, available information regarding the prevalence of pedophilia, as well as etiological models to explain the development and manifestation of pedophilic interests. This includes considerations of historical as well as current views of how this disorder develops. Assessment strategies are reviewed, including the importance of a pretreatment psychosexual history as well as formal and structured assessment tools that are beneficial in treatment. Important treatment models for pedophilia include cognitive-behavioral therapy, relapse prevention, psychopharmacological interventions, and use of the risk-needs-responsivity framework. The chapter further describes empirical research related to recidivism and assessment of sex offender risk among those diagnosed with pedophilia, including the identification of common risk assessment tools. Finally, we conclude with a discussion of relevant policy issues and directions for future research in this important area.

Introduction: Bipolar disorder (BD) is a genetically heritable mood disorder typically characterized by manic and depressive episodes. Cognitive impairments experienced by people with BD are one of the best predictors of functional capacity in their daily lives. There are notable impairments in various domains, such as executive functioning, working memory, and processing speed, in both individuals diagnosed with BD as well as their first-degree unaffected relatives, which emphasizes the important role genetic factors play in the onset and presence of cognitive impairments. One commonly studied single nucleotide polymorphism (SNP) associated with BD and cognition is the CACNA1C rs1006737 SNP. Although there have been numerous studies investigating the effects of rs1006737 on cognitive functioning in BD, results have been inconclusive and mixed. Thus, we examined the involvement and impact of the CACNA1C rs1006737 risk SNP on cognitive functioning in the domains of executive functioning, working memory, and processing speed. Methods: A total of 70 euthymic BD-I participants and 76 healthy control (HC) participants were assessed on the cognitive domains of executive functioning, working memory, and processing speed and genotyped for the CACNA1C rs1006737 risk SNP. Results: No significant differences were observed in the scores for the cognitive domains of executive functioning, working memory, and processing between BD risk carriers vs. non-risk homozygotes, HC risk carriers vs. non-risk homozygotes, BD and HC risk carriers, and BD and HC non-risk homozygotes. Conclusion and Future Directions: The results suggest that the rs1006737 risk SNP does not have a significant impact on the cognitive domains investigated in BD and HC. However, our small sample size and lack of an age-matched control group are crucial limitations that must be taken into consideration. Future studies with larger sample sizes can help to further elucidate the role the CACNA1C rs1006737 risk SNP plays in cognitive functioning in BD. / Thesis / Master of Science (MSc)

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