We report on molecular classes in PWS using advanced genomic technology in the largest cohort to date. LOH patterns in UPD15 may impact the risk of having a second genetic condition if the mother carries a recessive mutant allele in the isodisomic region on chromosome 15. The risk of UPD15 may also increase with maternal age.

Men with anorexia and bulimia nervosa account for 10% of people with this condition and for binge eating disorder they account for as many as 25%. Risk factors in men include athletics, sexuality, psychiatric co-morbidity and negative life experiences. Differences in eating disorders exist between men and women relating to behavior and psychological symptoms. Men are much more likely than women to underestimate body size and desire a more muscular body. Men are less likely than women to engage in typical compensatory behaviors such as vomiting and more likely to engage in activities such as excessive exercise to attempt to lose weight or counteract the effects of eating. Men are more likely than women to binge rather than restrict due to negative body image. Studies show that men with eating disorders are less likely to seek treatment than women are. Obstacles to treatment include cultural biases toward eating disorders because they are considered to be female disorders, a lack of trained professionals and a lack of treatment setting that specifically deals with male eating disorders patients. Finally, even with little research to guide treatment of eating disorders, the outcome seems to be similar for men and women.

The historical diagnosis of Prader-Willi syndrome (PWS), a complex genetic disorder, in adults is often achieved by clinical presentation rather than by genetic testing and thus limited genetic subtype-specific psychometric investigations and treatment options. Genetic testing and clinical psychiatric evaluation using Diagnostic and Statistical Manual (DSM)-IV-TR criteria were undertaken on 72 adult residents (34 M; 38 F) from the Prader-Willi Homes of Oconomowoc (PWHO), a specialty PWS group home system. Methylation specific-multiplex ligation probe amplification and high-resolution microarrays were analyzed for methylation status, 15q11-q13 deletions and maternal uniparental disomy 15 (mUPD15). Seventy (33M; 37F) of 72 residents were genetically confirmed and 36 (51%) had Type I or Type II deletions; 29 (42%) with mUPD15 and 5 (7%) with imprinting defects from three separate families. Psychiatric comorbidities were classified as anxiety disorder (38%), excoriation (skin picking) (33%), intermittent explosive disorder ([30%-predominantly among males at 45% compared with females at 16% [OR = 4.3, 95%CI 1.4-13.1, P< 0.008]) and psychotic features (23%). Psychiatric diagnoses did not differ between mUPD15 vs deletion, but a greater number of psychiatric diagnoses were observed for the larger Type I (4.3) vs smaller Type II (3.6) deletions when age was controlled (F = 5.0, P < 0.04). Adults with PWS presented with uniformly higher rates of psychiatric comorbidities which differed by genetic subtype with gender-specific trends.

Prader-Willi syndrome (PWS) is a complex genetic imprinting disorder characterized by childhood obesity, short stature, hypogonadism/hypogenitalism, hypotonia, cognitive impairment, and behavioral problems. Usually PWS occurs sporadically due to the loss of paternally expressed genes on chromosome 15 with the majority of individuals having the 15q11-q13 region deleted. Examples of familial PWS have been reported but rarely. To date 13 families have been reported with more than one child with PWS and without a 15q11-q13 deletion secondary to a chromosome 15 translocation, inversion, or uniparental maternal disomy 15. Ten of those 13 families were shown to carry microdeletions in the PWS imprinting center. The microdeletions were found to be of paternal origin in nine of the ten cases in which family studies were carried out. Using a variety of techniques, the microdeletions were identified in regions within the complex SNRPN gene locus encompassing the PWS imprinting center. Here, we report the clinical and genetic findings in three adult siblings with PWS caused by a microdeletion in the chromosome 15 imprinting center inherited from an unaffected father that controls the activity of genes in the 15q11-q13 region and summarize the 13 reported cases in the literature.

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The goal of this study was to analyze the impact of obsessive compulsive behaviors (OCB) in eating disorder males and females admitted for residential treatment in terms of length of stay and severity of symptoms. Patients (N=384) were separated into four groups based on gender and the score obtained for the Maudsley Obsessive-Compulsive Inventory at admission. The instrument used to assess severity of eating disorder symptoms was the Eating Disorder Inventory (EDI-2) at admission and discharge. The results showed that the presence of comorbid OCB in eating disordered males and females account for longer length of stay (LOS) and an increased severity of eating disorder symptoms. Clinically, these findings point to the need for development of more targeted residential programs that are equipped for and adept at treating the comorbid eating disorder/OCB patient population.