RESUMO
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.
Assuntos
Estudos de Associação Genética , Fenótipo , Síndrome de Prader-Willi/diagnóstico , Síndrome de Prader-Willi/genética , Adolescente , Adulto , Cromossomos Humanos Par 15 , Variações do Número de Cópias de DNA , Gerenciamento Clínico , Feminino , Estudos de Associação Genética/métodos , Testes Genéticos , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Dissomia Uniparental , Adulto JovemRESUMO
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.