What is ATR-X? The ATRX gene is essential to brain function and may play a role in regulating the activity of other genes, so any alteration to this gene (as happens with ATR-X the disorder) causes a domino effect of issues affecting the entire body.  ATR-X the disorder can be inherited (carried by/passed on by the mother; it typically does not express in or affect females) or a de novo (spontaneous at conception) mutation on the ATRX gene. It is important to know is that ATR-X is a spectrum disorder which means the severity can range from mild to profound. It almost always affects boys but very rarely also affects girls as well. I’ll refer to boys most often on this site to keep things simple.

Every. Single. Boy. is different and will do things on their own timeline. There’s no way to know how your kiddo will develop. So never underestimate them. And keep in mind at the base of it all is what your job as a parent is: make them feel loved and safe and do your best to keep them healthy. That’s all you have to do. Don’t worry about anything else. Are they happy as they can be? Then you’re doing a great job.

ATR-X affects EVERYTHING.

A quick overview of how ATR-X affects individuals:

• Intellectual disability is very common and can be on the more severe side, unfortunately. Cortical Visual Impairment is related and a common issue as the brain often cannot process vision correctly.
• Verbal communication: While some boys learn to talk, it’s quite common for boys to be nonverbal or have very limited words. Sometimes they are able to use communication devices and technology is providing better and better communication options every day.
• Physical disability: Almost all boys are somewhat to very delayed on their physical milestones. Marked hypotonia (low muscle) is typical for all ATR-X boys. Some boys learn to walk (by age 3 or 5 or 8…) but many boys use wheelchairs or need help to be mobile indefinitely. Fine motor skills can be difficult–reaching for and picking up items are skills that may be learned with time. Sitting up can take a while (our kiddo mastered this at age 3.5….we were so proud!).
• Physical appearance: ATR-X boys can often look somewhat similar and there’s reason to believe that the ATRX gene plays a role in facial formation. Many of the boys have upturned mouths, widely spaced teeth, low nose bridges, etc. What they all have in common? They’re ADORABLE, with amazing smiles and laughs and often really great hair.
• Breathing difficulties:  Respiratory problems are common. Central and/or obstructive apnea is widespread and some of our boys are trached (have a tracheostomy tube) or on oxygen at various times. Anesthesia can hard on the boys and they are often kept in the hospital after surgeries for longer than anticipated due to low oxygen levels. Keep an eye on any respiratory infections that can lead to pneumonia as this can be a cause of mortality in ATR-X boys (and read up on the signs of sepsis as well).
• GI issues: Many boys have GI issues of some form (chronic constipation, severe reflux, malrotation of the intestines, rumination, EOE), often causing severe pain. Unfortunately this is a BIG mystery area that leaves doctors puzzled on how to cure the pain. Most boys are on a laxative or probiotic of some form to stay regular.
• Genital abnormalities: Many boys have undescended testicles, microgenitalia or other genital abnormalities.
• Seizures: Roughly 30% of our boys deal with seizure activity, according to the Dutch ATR-X Foundation.
• Skeletal abnormalities: From scoliosis & kyphosis (curvature/rounding of the spine) to brachydactyly (shortening of the fingers and toes due to unusually short bones) to hip issues (coxa valga/coxa vara) and more, many boys deal with skeletal issues. Additionally, many boys are of short stature.

The Dutch ATR-X site lists the most common major issues by bodily system here.

Read more about ATR-X on these sites:

• Simon’s Searchlight ATR-X page and its related gene guide
• National Organization of Rare Disorders
• Genetics Home Reference
• Orphanet Journal of Rare Diseases

Our Dutch friends have particularly strong resources for ATR-X:

• Link to the ATR-X Syndrome Netherlands Foundation
• Video from the Netherlands showing ATR-X families (if you’re new to this syndrome, this gives you a good introduction)
• 2017 ATR-X Awareness Day video showcasing some of our beautiful boys
• Dutch ATR-X Syndrome brochure from 2015 with information on the syndrome and featuring some (adorable) boys & what their daily life looks like
• Downloadable/printable brochures about ATR-X are here, explaining ATR-X for families as well as physicians (as many of our doctors have never heard of this disorder).

ATR-X Research

Research on ATR-X is very limited due to the rarity of cases but there have been some hopeful developments by researchers recently, in particular due to the creation and involvement of the ATR-X Research Alliance group and Simon’s Searchlight.
Follow the ATRX Research Alliance on Facebook to stay up to date on their efforts. Their most recent video update is recorded here (October 2024) and they share some amazing research developments and you can also get introduced to some of the main researchers leading the charge.

ATRX Research Alliance works together with Simon’s Searchlight to further ATR-X research. Sign up and share your family’s genetic report so researchers have a better understanding of our community’s numbers and give them access to all information. Many researchers still think ATR-X affects so few people that it’s not worth researching. We know our numbers are bigger than believed so signing up and sharing your paperwork will help prove that ATR-X is worth studying. Sending in a blood sample is voluntary but is a huge contribution to the study of this condition. Please consider being a part of the research.

Additionally, in 2018 at Tohoku University in Japan. These show that the intellectual disability in mice with ATR-X was improved in two different trials, one in which the mice were given a compound called 5-ALA and another in which they were given a substance called SA4503. Two important notes here are that the cognitive function was improved in mice already afflicted with ATR-X (so it could potentially help boys already diagnosed) and that the trial was done in mice. Human trials are likely a long ways off and approved treatments are even further away. But still…there is hope!

• The full research paper can be rented or bought here  (or check with any friends/family/doctors to see if they can access the paper and download it for you).
• An additional article can be found here explaining helpful details about the trial
• The same group of researchers also published this paper a few months after their original paper, which showed another test administered a substance called SA4503 and found it also improved cognitive function in ATRX mice.

Groups to follow for more information:

• ATR-X group on Facebook (the largest community and source of information)
• American ATR-X Group
• International ATR-X Foundation
• Japanese ATR-X Group
• Italian ATR-X Group
• ATRX Research Alliance
• #siblife created by a wonderful sibling of 2 ATR-X boys, this page is meant to provide support to those in the UK who have siblings with learning disabilities/autism and the joys/stresses that come with it.

Am I missing any? Please share! email Allaboutatrx@gmail.com

Please note I am not a medical professional nor do I give medical advice on this site; I just aim to share as much information about ATR-X as possible and collect it all in one place.
Speak to your doctor before making any medical decisions.