Read Full Text: Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment (Free to access)
Journal: Pediatrics
Year Published: 2017
Ranked 99th on our 2015-2020 list of the 100 most influential OT-related articles
Many of our patients have co-occurring conditions—yet we rarely come across research that delves into how comorbidities intersect to create unique clinical presentations.
This article is refreshing for that very reason. The authors do a deep dive into the co-occurrence of autism and Fragile X syndrome.
If you work with patients who have either of these conditions, it is critical to know about the other. In fact, Fragile X syndrome is one of the most common known conditions that can cause secondary autism—so it’s no surprise that the two often go hand in hand in our patients. When these two conditions do co-occur, they can create a unique presentation that should inform your treatments.
Let’s dive in.
Refresher on Fragile X syndrome
We’ve already done a deep dive on Fragile X syndrome (FXS), and I encourage you to read this article as a refresher on the syndrome.
In short, though, Fragile X syndrome is the most common inherited cause of intellectual disability. Although the syndrome can present in many different ways, some of the common manifestations include:
- Attention deficits
- Hyperactivity/impulsivity
- Hyperarousal
- Anxiety
- Self-injurious behaviors
- Autism Spectrum Disorder (ASD)
Wait…do we know what causes autism?
Idiopathic autism accounts for the majority of autism cases (about 85%). Remember that “idiopathic” means that the cause is unknown.
However about 15% of autism cases actually seem to be caused by another condition—and in these cases, it’s referred to as “secondary autism.” The most common causes of secondary autism include tuberous sclerosis, Down’s Syndrome, FXS, and congenital infections.
It is important to know when you are working with someone who has primary versus secondary autism, since we are beginning to learn about the unique profiles of the different types of secondary autism.
Speaking of which…
FXS + ASD
According to our current understanding, 1-6% of all cases of autism seemed to be caused by FXS.
For males with FXS, around 30-54% also meet the diagnostic criteria for autism. Females with FXS meet the criteria for autism around 16%-20% of the time.
Researchers are in the beginning stages of delineating the unique features of ASD + FXS. Overall, individuals with the FXS + ASD combo seem to be more affected in many behavioral and cognitive areas.
The problem, though, is that the prior research in FXS + ASD has been limited; it has been primarily based on family surveys and small research samples.
But, that is why we’re so excited about this current study!
What did the authors hope to contribute to the research on FXS and ASD?
The overall goal of the study was to examine the impact of an ASD diagnosis on individuals with FXS in a way that would be helpful to clinical and public health interventions.
The researchers were able to analyze data from a relatively large database of individuals with Fragile X. Here are the hypotheses they posited that were most relevant to OT delivery:
- An association between FXS + ASD and seizures would be confirmed.
- Individuals with FXS + ASD would report more frequent sleep problems requiring treatment.
- Behavioral problems would be increased in the group with FXS + ASD, particularly:
- Irritability/aggression
- Perseveration/obsessive compulsive behavior
- Hypersensitivity/overreactivity
- Non-pharmacological interventions (like OT!) would be more frequently used in this population compared to those with FXS or ASD alone
How they gathered the data
The researchers were able to analyze data from FORWARD—The Fragile X Online Registry With Accessible Research Database. FORWARD is a longitudinal database with standardized clinician- and parent-reported data. At the time of this study, 25 clinics from the Fragile X Clinical & Research Consortium (FXCRC) were submitting data.
About 600 individuals in this database had the data necessary to be included in this study.
Assessments that are relevant to OT
Three assessments were included in the standardized data, which we are adding to our OT assessment search:
- Social Responsiveness Scale, Second Edition (SRS™-2)
- Social Communication Questionnaire (SCQ)
- Aberrant Behavior Checklist- 2 (ABC-2)
Results
Several hypotheses were confirmed by the data analysis:
- Seizures did occur more frequently in the FXS + ASD group (around 21%) versus the FXS only group (around 8%).
- Sleep problems were more common in the FXS + ASD group (around 41%) versus FXS group (around 30%).
- Behavioral problems were prevalent in FXS alone, but they were even more prevalent in FXS + ASD. For example, attention difficulties were found in around 77% of participants with FXS aged 12-21, versus 90% of participants of this same age group with FXS + ASD.
- Children with FXS + ASD received more services overall than children with FXS only. I’ll have to refer you to the chart on page 199 to get the full story, as multiple services were considered. But, for example, around 75% of participants aged 5-21 with FXS + ASD received OT, whereas only 59% of kids with FXS alone received OT.
What did the authors conclude/discuss?
In many ways, this research confirmed the hypothesis based on smaller studies:
That FXS + ASD can present with a more severe behavioral and developmental profile than FXS alone.
Even though the use of therapy was relatively common amongst all participants, the authors pointed out that there was still room for improvement to help families navigate the complexities of these co-occurring diagnoses.
One theory about barriers to utilizing more services was simply that families may have difficulty finding providers with the expertise needed to help manage these conditions. Families with children with idiopathic autism have reported unmet needs partially due to this very reason.
Takeaways for OT practitioners
1.) As an OT practitioner, you are uniquely poised to provide treatments to these kids.
FXS + ASD can impact many different facets of a child’s life, which makes your holistic OT care a natural fit for these kids’ needs.
As OTs, we can look into the unique learning/behavior/sensory profile of each child we are working with—but we can also pivot to other areas of functioning, like sleep hygiene, if they have become the main stressors for the family.
I’ve recently completed the Learn Play Thrive Course on Autism Interventions, with @meg2 and have been thinking all week about how the foundations of autism interventions could be paired with the knowledge of the unique profile of FXS+ASD to really help us look holistically, yet specifically at ways to help these individuals and families.
2.) This article was lacking in strengths-based language/approaches, but this is an important dimension you can bring to your treatments.
I was almost cringing at times reading this article; it was so deficits-focused! But, I think one of our strengths as OTs is that we can take in medical information about conditions, while at the same time seeing the unique child in front of us, complete with all of their wonderful strengths 
If you are interested in hearing a parent’s perspective on the strengths of her own child with Fragile X, @sanchala shared an excellent TED talk and interview on The unused power of Fragile X.
I also really enjoyed a recent podcast between @meg proctor and my former NYU professor, Dr. Kristie Patten, called A Strengths-Based Approach to Autism Interventions.
(Possibly) Earn CEUs/PDUs for reading this article.
Many of you can receive continuing education credits for reading this article. Here’s a form to help you do it, along with information to help you understand who qualifies.
And, here’s the full APA citation you many need:
Kaufmann, W. E., Kidd, S. A., Andrews, H. F., Budimirovic, D. B., Esler, A., Haas-Givler, B., . . . Berry-Kravis, E. (2017). Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment. Pediatrics, 139 (Supplement 3). doi:10.1542/peds.2016-1159f