Context:

A groundbreaking international study was recently published in Nature which shed new light on the complexities of autism spectrum disorder (ASD). Researchers from the University of Cambridge have discovered that autism diagnosed in early childhood and autism recognized later in life may arise from distinct developmental and genetic patterns. This challenges the long-held assumption that autism is a single condition with a unified underlying cause.

About two Pathways into Autism

The study analyzed data from nearly 50,000 autistic individuals and identified two distinct pathways into autism.

• • One group showed difficulties in social interactions, communication, and behavior that were evident earlier in life and persisted into adulthood. These children were more often diagnosed in preschool or primary school.
  • Another group showed far fewer difficulties at first, although these became more pronounced in adolescence, particularly as schoolwork and friendships became more demanding. These children tended to be diagnosed later in life.
  • The genetic analysis revealed two partly distinct patterns of genetic variants across many people.
  • One was linked more closely to earlier diagnoses and was associated with pronounced social and communication difficulties in early life but showed only weak genetic ties to conditions such as attention-deficit/hyperactivity disorder (ADHD) or depression.
  • The other, linked to later diagnoses, carried stronger associations with ADHD, post-traumatic stress disorder, depression, and self-harm.

Implications for Diagnosis and Support:

The study highlights the need for tailored support and awareness. Adolescents who receive a diagnosis later often struggle with mental health problems that can compound their challenges. Further it emphasises the need for urgent support for co-occurring mental health conditions, which can have a huge impact on quality of life.

About Autism spectrum disorder (ASD):

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by difficulties with social communication and interaction, and restricted or repetitive behaviors.

• •  It is called a "spectrum" because the symptoms, abilities, and needs vary widely from person to person.
  • Symptoms generally appear in early childhood and can impact areas like social skills, learning, and behavior throughout life.
  •  Early intervention and support services can improve a person's health and well-being.

Conclusion:

The study highlights the complexity of autism, revealing distinct genetic roots for early and late diagnoses. By acknowledging this diversity, we can work towards better support and understanding for individuals with autism and their families.