Objective: Autism and eating disorders (ED) frequently co-occur, particularly in women. Autistic individuals are often undiagnosed when they present to mental health services and many receive their autism diagnosis during or after ED treatment. This study sought to understand the experiences of autistic women with co-occurring anorexia nervosa (AN) receiving an autism diagnosis.
Method: Secondary data analysis was conducted on 17 semi-structured interviews with autistic women with AN using reflexive thematic analysis. Participants had a diagnosis of autism, had current or past experience of AN, were female-identifying and aged 18 or above.
Results: Participants experienced missed opportunities for autism diagnosis along with misdiagnoses and misunderstandings from healthcare professionals. Participants tended to receive their diagnosis at the point of crisis and experienced being passed between autism and ED services. Receiving a diagnosis helped participants make sense of their experiences and take control of their lives but also brought feelings of shock and distress.
Conclusions: While autism diagnosis is often a positive experience for autistic women with AN, a range of emotions can be experienced. The findings highlight a need for better and earlier identification of autism among women with EDs, alongside appropriate post-diagnosis support and ED treatment that is adapted to autistic individuals' needs.
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http://dx.doi.org/10.1002/erv.3186 | DOI Listing |
Mol Genet Genomic Med
March 2025
Department of Medical Genetics, University of British Columbia (UBC), Vancouver, British Columbia, Canada.
Background: While recently identified heterozygous PRPF8 variants have been linked to various human diseases, their role in neurodevelopmental disorders (NDDs) remains ambiguous. This study investigates the potential association between homozygous PRPF8 variants and NDDs. Most PRPF8 variants are primarily associated with retinal diseases; however, we analyze a family with multiple members diagnosed with NDDs.
View Article and Find Full Text PDFFront Pediatr
February 2025
Department of Primary Care, Ohio University Heritage College of Osteopathic Medicine, Athens, OH, United States.
Children with neurodevelopmental disabilities living in rural and low-resourced regions within the United States, such as Appalachia, face gaps and barriers to accessing healthcare services due to a shortage of providers, specialists, hospitals, and clinics. Without access to specialized medical and rehabilitation services, their performance across developmental domains and participation within their communities is likely suboptimal. The purpose of this study was to identify both intrinsic and extrinsic factors using a mixed-methods approach to better understand factors that may impact performance across developmental domains and participation for children with disabilities living in Appalachia.
View Article and Find Full Text PDFSci Rep
March 2025
Department of Psychology, Rutgers University, Newark, NJ, 07102, USA.
Individuals with autism can show intact decoding (i.e., ability to recognize and pronounce written words accurately).
View Article and Find Full Text PDFImportance: Down syndrome, resulting from trisomy 21, is the most prevalent chromosomal disorder and a leading cause of intellectual disability. Despite its significant impact on brain development, research on the white matter microstructure in infants with Down syndrome remains limited.
Objective: To investigate early white matter microstructure in infants with Down syndrome using diffusion tensor imaging (DTI) and neurite orientation dispersion and density imaging (NODDI).
Background: While neighborhood conditions have previously been shown to have substantial effects on later occupational, educational and health outcomes, this is the first study to examine the relation between neighborhood factors and attention-deficit/hyperactivity disorder (ADHD) symptoms in children with autism and developmental delays.
Methods: Children from the CHARGE (Childhood Autism Risks from Genetics and the Environment) Study were evaluated at ages 2-5 years and then later in the ReCHARGE (follow-up) Study at ages 8-20 years (mid-childhood/adolescence). Using linear regression, we assessed associations between the Child Opportunity Index 2.
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