Fragile X, ASD and No Common Sense

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http://fragilex.org National Fragile x Foundation

I’ve decided to become familiar with the Autism Spectrum Disorder junk drawer of  “behavioral symptoms” knowing that several genetic disorders have been “tossed in” with non medical ASD symptoms / diagnosis. I should have known it would be irrational…

Aye, yai, yai!

 

 

Autism Spectrum Disorder and Fragile X Syndrome

Fragile X syndrome is the most common known single gene cause of ASD

What Is Autism Spectrum Disorder?

Autism spectrum disorder (ASD) is a behavioral diagnosis. (True: it is not a medical condition.) The range of ASD ymptoms vary and are generally characterized by an impaired ability to communicate and interact socially with other people. Sometimes children will not meet the diagnostic criteria for ASD but will have autistic-like features. (Demonstrates that it is not a specific, but rather, subjective condition; those who are diagnosed may have little in common except “social problems” of unknown and unspecified characteristics and causes.)

The diagnosis of ASD is usually made by a developmental or general pediatrician, neurologist, psychologist, psychiatrist, or other specialist. A clinician may make a diagnosis of ASD after observing the behavior and language of a child and using the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) criteria for their evaluation. In addition, the diagnosis may be made after evaluating the child using a number of testing instruments, such as the Autism Diagnostic Observation Schedule – 2nd edition (ADOS-2) or the Autism Diagnostic Interview – Revised (ADI-R). These instruments are considered the gold standard – the most accurate instruments available – for a diagnosis and are often used in research.There is no blood test for ASD, and imaging studies such as MRIs don’t diagnose the condition – it is purely a behavioral diagnosis similar to Attention Deficit Hyperactivity Disorder (ADHD).

What Causes ASD?

Much remains unknown about the condition—including what causes it in many individual cases. However, when a child is diagnosed with ASD, blood tests are often ordered to rule out the known genetic causes. Fragile X syndrome (FXS) is the most common known single gene cause of ASD. Other genetic causes of ASD include deletions of chromosome 15q, tuberous sclerosis and other rare genetic conditions. (Common sense: If a child tests positive for a specific genetic condition, why is that then not their diagnosis? Why would individuals with genetic disorders be “lumped together” with individuals whose symptoms have a different or unknown source? Or only exist in someone’s imagination.)  

It’s as if a child who has a persistence cough, and is diagnosed with tuberculosis, retains the diagnosis “has a cough behavior” and shares that diagnosis with children whose coughs have unrelated causes. The positive result of a diagnosis is to narrow down and identify the cause of symptoms, in order to establish treatment. Why is ASD backwards?

Many times a child with ASD will be tested or evaluated for all the known genetic causes of autism but no cause will be found. However, family studies have shown that in families with one child with ASD there is an increased risk for another child to have the condition. (Or are they at higher risk of being diagnosed, whether or not they are ASD, due to bias?) This risk is not as high as in those families with an identified single gene cause, such as FXS. It is more in line with multifactorial risks, similar to heart defects or cleft lip. This leads experts to believe there is a genetic component even in those without a single gene identified cause. (Could we have a little more science and less belief?)

Relationship Between ASD and FXS

This is bizarre: Overlapping DIAGNOSIS with genetic disorders make ASD  (a purely behavioral mess of subjectively interpreted “symptoms” to begin with) into a bizarre product of human invention; a bureaucratic nightmare for parents and children, schools and insurance providers.

Whereas ASD is a behavioral diagnosis, FXS is a medical, or more accurately, a genetic diagnosis. When associated with FXS, ASD is caused by the genetic change or mutation in the Fragile X gene. If a child is diagnosed with ASD and then diagnosed with FXS, he or she still has ASD, it is just that the cause of their ASD is known. It is no different than someone with FXS also having ADHD or any other behavioral symptom of FXS.

The article FXS and ASD: Similar But Different highlights a well-attended panel discussion at the 13th International Fragile X Conference that addresses the topic: FXS and ASD: Clinical Insights into the Similarities and Differences for Diagnosis and Treatment.

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How Many Children With FXS Have ASD?

Many studies have evaluated the FXS-ASD link over the past decade. Since many children with FXS are interested in social interactions, they may not meet the diagnostic criteria for ASD, even though they exhibit some features of ASD such as poor eye contact, shyness, social anxiety, hand-flapping and sensory issues. Autism is much more common in boys with FXS than in girls with FXS. According to the CDC, a national parent survey found that 46 percent of males and 16 percent of females with FXS have been diagnosed or treated for ASD. The FORWARD Registry and Database tells us that 40 percent of individuals with FXS are diagnosed with ASD by their doctor in the clinics of the Fragile X Clinical and Research Consortium (FXCRC).

How Many Children With ASD Have FXS?

About 10 percent of children with ASD are identified as having another genetic and chromosomal disorder such as fragile X syndrome. Given the possibility of a link, it is recommended that all children with ASD, both male and female, be referred for genetic evaluation and testing for FXS and any other genetic cause of ASD.

ASD’s Effect on Children With FXS

Studies show that individuals with FXS who have autism can have a more significant intellectual disability (lower IQ) than those with FXS who do not have autism. (Isn’t this backwards? “Autism” is not a “thing” – it’s a collection of variable behaviors. If a child has low IQ, there are behaviors that follow from that, which contribute to a diagnosis of autism or not.) 

For further reading on the relationship between autism and fragile X syndrome, see:

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