The short version

The usual mix-up

"Autism and ADHD are separate, so their genetics are separate." They are separate diagnoses with overlapping biology. A person can have both, and current diagnostic manuals allow both to be recorded together (not yet verified).

The plain-English layer

Heritability

The Bai et al. study pooled data on 2,001,631 individuals, including 22,156 with autism, across five countries. The median heritability was 80.8% (range 73.2-85.5%), and the maternal effect was small (0.4-1.6%) [1]. As with ADHD (GEN-01), heritability describes why people differ in a population. It does not describe a share of any one person's autism.

Genetic architecture

As with ADHD, autism involves many common variants of small effect and rarer variants of larger effect, including new (de novo) variants (Tier B, general; not yet verified for gene counts). GEN-04 explains the difference.

What genes say about needs

Genes do not tell you a person's support needs. Autistic people vary enormously in communication, independence and health needs, and no gene result predicts those for an individual.

The medical-care evidence

The Swedish study followed 27,122 people diagnosed with autism between 1987 and 2009 against 2,672,185 matched controls. During follow-up, 706 autistic people (2.60%) had died compared with 0.91% of the general population (odds ratio 2.56; 95% CI 2.38-2.76). Mortality was raised for almost all diagnostic categories, with sex and general intellectual ability moderating the pattern [2]. The authors concluded that premature mortality was markedly increased owing to a multitude of medical conditions.

Why this belongs in a genetics series. If a neurodevelopmental condition is associated with raised risk across many medical causes, then care cannot be organised as if the condition were only a mental-health matter. Whole-person medical care, with clear ownership, is the evidence-consistent model. The policy argument is developed in the policy section of this site.

Limits

Sources

Bibliographic details checked against PubMed.

  1. Bai D et al. Association of genetic and environmental factors with autism in a 5-country cohort. JAMA Psychiatry 2019;76(10):1035-1043. DOI · PMID 31314057
  2. Hirvikoski T et al. Premature mortality in autism spectrum disorder. Br J Psychiatry 2016;208(3):232-238. DOI · PMID 26541693