RESUMO
Recent research suggests that mild autistic-like characteristics can be measured among relatives of individuals with autism and in the general population. These characteristics have been referred to as the broader autism phenotype (BAP), and include pragmatic language difficulties, aloofness, and rigidity. Evidence is growing to suggest that individuals with BAP encounter difficulties in their social interactions. Recent work demonstrates that college students scoring high on the BAP report more loneliness (Jobe & Williams White, 2007) and more interpersonal problems (Wainer, Ingersoll, & Hopwood, 2012). Because intimate relationships are important in development and are very salient in emerging adulthood, the authors examined the relation of the BAP to romantic attachment and empathy among young adults. Higher BAP scores were associated with lower empathy and higher attachment anxiety and avoidance. Specifically, pragmatic language difficulties were related to higher rates of avoidant attachment and this relationship was mediated by empathy. In contrast, pragmatic language deficits were directly related to anxious attachment.
Assuntos
Transtorno Autístico/fisiopatologia , Corte/psicologia , Empatia/fisiologia , Relações Interpessoais , Apego ao Objeto , Estudantes/psicologia , Adolescente , Adulto , Transtorno Autístico/psicologia , Feminino , Humanos , Masculino , Fenótipo , Universidades , Adulto JovemRESUMO
Chromosomal copy number variants (CNV) are the most common genetic lesion found in autism. Many autism-associated CNVs are duplications of chromosome 15q. Although most cases of interstitial (int) dup(15) that present clinically are de novo and maternally derived or inherited, both pathogenic and unaffected paternal duplications of 15q have been identified. We performed a phenotype/genotype analysis of individuals with interstitial 15q duplications to broaden our understanding of the 15q syndrome and investigate the contribution of 15q duplication to increased autism risk. All subjects were recruited solely on the basis of interstitial duplication 15q11.2-q13 status. Comparative array genome hybridization was used to determine the duplication size and boundaries while the methylation status of the maternally methylated small nuclear ribonucleoprotein polypeptide N gene was used to determine the parent of origin of the duplication. We determined the duplication size and parental origin for 14 int dup(15) subjects: 10 maternal and 4 paternal cases. The majority of int dup(15) cases recruited were maternal in origin, most likely due to our finding that maternal duplication was coincident with autism spectrum disorder. The size of the duplication did not correlate with the severity of the phenotype as established by Autism Diagnostic Observation Scale calibrated severity score. We identified phenotypes not comprehensively described before in this cohort including mild facial dysmorphism, sleep problems and an unusual electroencephalogram variant. Our results are consistent with the hypothesis that the maternally expressed ubiquitin protein ligase E3A gene is primarily responsible for the autism phenotype in int dup(15) since all maternal cases tested presented on the autism spectrum.