SLPNarrative ReviewJournal of autism and developmental disorders2021

Genetic Advances in Autism.

Anita Thapar, Michael Rutter

PMID 32940822

WHAT IT FOUND

Twin studies show autism runs strongly in families, but there is no single genetic cause or treatment target.

For speech-language pathologists, language and communication features are part of a broad, variable genetic spectrum, not a separate subtype.

Key findings

01Twin and family studies reported a mainly genetic contribution to autism, with heritability estimates of 64–91% and a median estimate of 80.8% across countries.

02Autism shares genetic liability with ADHD and other neurodevelopmental conditions; in a Swedish registry, almost half of individuals with autism also had an ADHD diagnosis.

03Rare de novo variants are estimated to explain 10–40% of autism diagnoses, but common variants currently have no predictive utility for clinical testing.

STILL TO COME

How it was doneWhat they foundWhat it means for SLPs

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What it does not show

This is a narrative review, not a trial or systematic review, so it does not test a treatment or provide new patient outcomes. The genetic evidence comes from many different study designs and populations, so it does not tell a clinician which therapy to choose for a specific child. Autism is clinically and genetically heterogeneous, so the same variant may not produce the same speech, language, or behaviour pattern. Current common genetic tests have little predictive use, and rare variant results are often difficult to interpret for families. The review discusses genetic risk and diagnosis, not speech, occupational, or physical therapy outcomes.

Declared interests

Funding was reported from the Dr. Ralph and Marian Falk Medical Research Trust (US), the Medical Research Council, the Wellcome Trust, and Cardiff University. The supplied text does not state author conflicts of interest.

The easy way to misread this

Do not read the heritability estimates as evidence that autism can be reduced to one gene or one therapy pathway. The review says autism is genetically heterogeneous and it is not yet known whether common final biological pathways can be targeted safely by treatment.

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