Turner Syndrome Foundation
Is there a connection between Turner syndrome (TS) and Autism Spectrum Disorder (ASD)? Both conditions occur on a spectrum, which means they will vary greatly in how they present in patients. Is there a connection between the two conditions, though? While knowledge of both conditions changes over time, and we have much to learn about both, let’s look at some of what we know right now!
Defining ASD: DSM-What?
The Diagnostic and Statistical Manual of Mental Disorders-5 (commonly known as the DSM-5) is compiled by subject matter experts in the mental health field to define mental disorders. Its intent is to improve diagnosis, treatment, and research of mental health conditions.
For ASD, the DSM-5 splits the essential features into two criteria. Criterion A is “persistent deficits in reciprocal social communication, in nonverbal communicative behaviors used for social interaction, and in developing, managing, and understanding relationships.” Criterion B is “restricted, repetitive patterns of behavior, interests, or activities.” (For more information, see the DSM-5 Guidebook)
Connections & Similarities between TS & ASD Diagnoses
The CDC (Centers for Disease Control) states the following in its article What is Autism Spectrum Disorder?: “… ASD is a
developmental disability caused by differences in the brain. Some people with ASD have a known difference, such as a genetic condition. Other causes are not yet known.”
ASD is similar to TS in that the X-chromosome abnormalities in TS patients can result in physical differences in the brain. Also, both conditions do not have definitive causes (meaning they happen randomly and may have other medical issues associated with them).
Many people dislike or have trouble in social settings. They may be shy or not like crowds. But for what reason, or to what extent? This could be a general personality trait that’s not attributable to TS or ASD in any way, or it may be. This is where the individual, varied traits are similar in both conditions, as well as in the general population.
The Lost Girls
The article The Lost Girls, by Apoorva Mandavilli for Spectrum News, discusses research she and her fellow researchers conducted that found that ASD and ASD traits manifest themselves differently in boys and girls. And they are pushing for this to be applied to ASD research. In particular, they point out that girls should be specifically taught social skills (which is something that girls with TS also might struggle with). Things like eye contact, reading nonverbal cues, and dealing with social rejection may be particularly challenging.
The article highlights three girls and the difficulties surrounding their ASD diagnoses. Maya had a lot of difficulty getting diagnosed, part of that possibly due to the social and communication issues that come with ASD. A delayed or difficult diagnosis will sound familiar to TS patients.
Lula’s mother discusses the difficulty of dealing with puberty and self-care. Puberty issues will ring differently but still true among those with TS.
Leigh’s family found a residential care facility for her to help better manage her anxiety (due to autism). Her mother worries about the potential for abuse if she’s assigned a male caretaker. This
is a common concern for parents of girls, but it’s echoed by and amplified with both ASD and TS patients.
Both ASD and TS will present struggles, but this article gives hope that they can be overcome and that there are others who understand and have dealt with them. Whether someone has either one or both of these diagnoses, help and support are out there (see below)!
“Almost overnight, we went from a couple of people talking about sex differences to everyone studying this as a major factor in the field."
What the Research Says about TS & ASD
TS occurs in 1 in every 2,000 live female births. The CDC states that about 1 in 36 children has been diagnosed with ASD, according to its Autism and Developmental Disabilities Monitoring (ADDM) Network. The article Turner Syndrome Tied to Autism, by Emmet Fraizer, states that “nearly two-thirds of people with TS have autism traits, and almost one-quarter meet the diagnostic criteria for autism.”
The author notes that there is a difference between having autism traits and being diagnosed with autism. The DSM-5 lists the traits of autism and gives specific criteria as to when they should begin, how many of them must be present, and other information
pertinent to making a diagnosis. There will be people across the general population who may show traits of autism, but not in a way that meets the criteria for an ASD diagnosis.
One study from the UK found that 23% of participants (children and adolescents from ages 5 to 19 with TS confirmed by genetic reports or clinical letters) met the diagnostic criteria for ASD. These subjects were either members of the UK Turner Syndrome Support Society or had visited clinics in the UK. This highlights the importance of being involved in support groups and with doctors/clinics specializing in TS. The researchers compared the participants using data from National Health Service (NHS) Digital and the UK Data Archive Service.
A similar study in Sweden came to some of the same conclusions, showing a “fourfold increased risk of autism spectrum disorder.” Researchers identified the participants from Sweden’s National Patient Registry using diagnosis codes for TS and matched them with controls by date of birth from Sweden’s Total Population Register.
So whether it’s just traits of autism or meeting the diagnostic criteria for autism, there seems to be a connection with TS.
What You Can Do
Even though both of these conditions vary and are on a spectrum, there are things you can do! If you or your child do not already have a diagnosis but suspect either of these conditions because of specific traits, start by consulting your pediatrician or primary care physician. They can give you information about testing or referrals to get a diagnosis. Once you have a diagnosis confirmed or eliminated, follow up with them and seek any additional care you need from the specialists they refer you to.
Some of the traits or symptoms of these conditions may benefit from speech, occupational, or physical therapy. The organizations mentioned below can help with referrals or in navigating whatever therapy may be needed, as well. See the Turner Syndrome Foundation’s (TSF’s) website for more information about Evaluations & Treatments and obtaining School Accommodations.
In addition to medical information from professionals, seek support groups for other resources. TSF has a Guidelines & Resources page that contains checklists and guidelines for the specialists TS patients should meet with, and when. You can also find information and resources on TSF’s Learning and Cognitive Issues pages. TSF also offers Star Sisters, a private, online group for those affected by TS, and the 24/7 Caregivers Group, for those who are caring for loved ones with more complex cases of TS and/or other conditions.
There are also several groups that offer support, advocacy, and awareness for autism. Autism Speaks has resources and information geared towards autism under its Help and Information tab. These are just a couple of groups that offer support and help with advocacy and awareness. There are many other resources online. Increasing support, advocacy, and awareness is why it’s important to help these organizations as much as you can in whatever capacity you can.
With the right support and help from medical professionals and support organizations, you can live well with either of these conditions!
Sources
Diagnostic & Statistical Manual of Mental Disorders-5 (DSM-5-TR), American Psychiatric Association
Data and Statistics on Autism Spectrum Disorder, Centers for Disease Control
What Is Autism Spectrum Disorder?, Centers for Disease Control
Mental Health and Neurodevelopment in Children and Adolescents with Turner Syndrome, SAGE Journals
The lost girls, Spectrum
Turner syndrome tied to autism, Spectrum
U.S. autism prevalence inches upward as racial gaps close, Spectrum
Written by Helen Rhoads, volunteer blog writer. Edited by Susan Herman, TSF Blog Coordinator, and Kayla Ganger, TSF Professional Member Liaison. Designed by Susan Herman.
© Turner Syndrome Foundation, 2023
