Recently there have been a few folks that I've had conversations with, some face to face, some written, and one question came up a few times, that made me curious. The questions being asked is in the headline, but basically these folks have been wiling to come forward with their situation, which involved having one or more children who were born with OI, and have recently been determined to be on the Autistic Spectrum. I'm not a specialist in situations that involve Autism, I have been blessed to work with some kids on the spectrum, but never both OI and Autism. I will be honest, the first time I heard about such a situation, a few years back, I was heartbroken. Having a child with OI, in many cases has a ton of challenges, having to try and explain OI to a child with Autism just sounds like something that would be incredibly difficult.

Autism. Having a child with OI and these interactions have significantly broadened my perspective on various issues, this being one of them.. My wife and I have had conversations several times over the last 2 years about how Autism certainly seems to be talked about, more and more than it once was...

This is a genuinely interesting area of emerging research. Here's a thorough summary of what the scientific literature shows:

The Traditional Consensus (Pre-2018)

Autism and ASD were not historically recognized as an association with OI — children with bone fragility were generally described as having normal intellectual development, and autistic traits were often overlooked in younger children with OI due to the clinical focus on their motor delay.  (Health Research Authority)

The Key Breakthrough Study (2018)

The most significant research came from Sheffield Children's Hospital in the UK — home to Western Europe's largest OI cohort. A joint genetics and psychology research study was undertaken using gold-standard diagnostic tools (the Autism Diagnostic Inventory Revised and the Autism Diagnostic Observation Schedule) to identify a cohort of 7 children with OI who also showed symptoms consistent with ASD, and to undertake genetic analyses on them.  (ScienceDirect)

Among the patients who fulfilled research criteria for ASD, whole exome sequencing found: one patient had compound heterozygous variants in NBAS; one had a variant in NRXN1 (a gene already linked to autism); one had a maternally inherited PLS3 variant; and the remaining patients had pathogenic variants in COL1A1/COL1A2 — the core OI genes.  (PubMed Central)

The finding of a variant in NRXN1 is particularly notable, as this gene (neurexin-1) is one of the more established genetic risk factors for ASD, suggesting a potential shared genetic pathway in at least some individuals.

Important Caveats from the Study's Authors

The study was not set up as a prevalence study — it was an exploration of genetics in association with confirmed ASD and bone fragility. The numbers are small, and a planned national study across more centres was proposed to help define this association further.  (PubMed Central)

Follow-Up Work (2019 and Beyond)

A 2019 conference presentation from Sheffield highlighted that dual diagnosis of ASD and OI may be delayed because presenting problems are inappropriately attributed solely to OI, resulting in children not receiving specialized ASD support.  (Bone-abstracts)

A feasibility study was also registered with the UK Health Research Authority, specifically aiming to investigate whether it is feasible to conduct a larger-scale project to properly establish the prevalence of ASD traits in children diagnosed with OI.  (Health Research Authority)

On the broader bone-autism question, a 2025 population-representative Australian cohort study (published in the Journal of Autism and Developmental Disorders) found that autistic children have poorer bone health than their non-autistic peers, though prior evidence had been based on small clinical samples. The study also explored whether shared genetic or environmental factors — rather than autism itself — might explain the association.  (Springer)

Where Things Stand Today

The honest answer is that the science is suggestive but not conclusive. There is no large-scale, definitive study that has either firmly confirmed or ruled out a meaningful link. What the research has shown is:

ASD does appear in a subset of children with severe/complex OI more than might be expected by chance

Some specific genetic variants (particularly NRXN1) may create a shared vulnerability for both conditions in rare cases

Most children with OI do not have ASD — this is not a universal feature of the condition

The field has called for larger national/international studies to establish true prevalence, but those have not yet been published

The clinical recommendation from researchers is that clinicians managing children with severe OI should be alert to early signs of developmental delay or autistic traits, and not automatically attribute all behavioral differences to the physical condition.

Now as you can see there may have been a connection found, but at the current time, there do not seem to be a strong connection upheld by today's science.  That being said science is progressing faster and faster every day. In conversations with my wife, an RN, one question that keeps coming up is this: Is Autism becoming more prevalent here in the states, or is science and communication developing so fast, that not only are the signs of Autism being discovered earlier in kids than it used to, and OR are we just hearing more and more about it because communication is faster and more widespread, so that we're hearing about it more often than we used to? After a the Autism Awareness Campaign has been progressing for a number of years and I believe is working we.