How do de novo mutations during pregnancy contribute to the development of autism? 

Recent studies show that de novo mutations and autism may be closely linked, particularly when these genetic changes occur spontaneously during pregnancy. These are not inherited from either parent but arise for the first time in the sperm, egg, or embryo potentially altering early brain development.

Some of these changes may affect genes responsible for neural communication or structural development. While not all de novo mutations and autism outcomes are clear-cut, a subset of mutations has been strongly associated with an increased chance of diagnosis. Unlike inherited genetic risk, de novo variants can emerge without family history, making their identification important for better understanding the diverse causes of autism. Early genetic screening can sometimes offer insights and inform decisions around support during prenatal development.

Early Behaviours That May Signal Autism

Children with autism often display distinctive patterns of behaviour. The earlier these signs are recognised, the sooner targeted help can be offered.

Delayed or absent speech

Children may speak later than expected or use very few words, relying on gestures or repetition.

Little interest in peer interaction

You may notice that a child prefers to play alone or shows limited interest in other children.

Fixed routines and resistance to change

Even small disruptions to routine can lead to stress or emotional outbursts.

Visit providers like Autism Detect for personal consultations and insights tailored to your child’s developmental needs.

For a deeper dive into the science, diagnosis, and full treatment landscape, read our complete guide to Pre‑natal and Birth‑related Factors.