Background: Emerging research suggests that seeking an autism diagnosis as an adult is usually difficult and time-consuming but brings relief once a diagnosis is made. This study explored the experience of the pathway to an autism diagnosis during adulthood for adults living in Australia. Methods: We conducted a qualitative phenomenological study and interviewed 13 adults who identified as autistic about their pathway to autism diagnosis in their mode of choice. Spoken interviews were transcribed verbatim, and transcripts were analyzed by using a thematic approach. Results: Data analysis resulted in 6 themes and 20 meaning units that described the experiences of adults seeking an autism diagnosis in Australia. These themes involved two interwoven journeys that spanned before, during, and after the diagnostic process. The personal journey involved feeling different, considering autism, and living as autistic, whereas the clinical journey involved missed opportunities, varied diagnostic experiences, and absent supports. Conclusions: Given the potential benefits for adults obtaining a formal autism diagnosis and accessing postdiagnostic supports, it is important that health professionals and governments collaborate to reduce access barriers and ensure adequate services are available. The findings from this study informed the development of Australia's national guideline for autism diagnosis.
Obsessive-compulsive disorder (OCD) is a heritable disorder, but no
definitive, replicated OCD susceptibility loci have yet been identified by any
genome-wide association study (GWAS). Here, we report results from a GWAS in the
largest OCD case-control sample (N = 14,140 OCD cases and N = 562,117 controls)
to date. We explored the genetic architecture of OCD, including its genetic
relationships to other psychiatric and non-psychiatric phenotypes. In the GWAS
analysis, we identified one SNP associated with OCD at a genome-wide significant
level. Subsequent gene-based analyses identified additional two genes as
potentially implicated in OCD pathogenesis. All SNPs combined explained 16% of
the heritability of OCD. We show sub-stantial positive genetic correlations
between OCD and a range of psychiatric disorders, including anxiety disorders,
anorexia nervosa, and major depression. We thus for the first time provide
evidence of a genome-wide locus implicated in OCD and strengthen previous
literature suggesting a polygenic nature of this disorder.
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