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Diagnoses of Autism: Role of the Female Protective Effect

Autism Spectrum Disorder (ASD) has historically been diagnosed more frequently in males as compared to females. This has been documented extensively in both epidemiological and genetic studies. By way of understanding this stark difference in diagnoses of autism, we at Small Steps Big Dreams in Dubai, UAE had found that four times as many boys present and are treated for autistic characteristics than are girls.

Origins

In the 1980s, Luke Tsai found that autistic girls have more relatives with autism or certain language impairments, in contrast to the boys with the condition. This finding hints that girls need to inherit more factors related to autism than boys do to show traits of ASD. Several large tests and/or studies since then have supported Tsai’s observation.

ASD in female patients

The most compelling evidence to corroborate this theory comes from studies centered around families of twins, rather than an individual autistic child. One study found that the younger siblings of autistic girls are more likely to also have the condition than are the younger siblings of autistic boys.

Another study found that women with autism or developmental delay tend to have larger disruptions in their genomes than do men with the disorder. Inherited mutations are also more likely to be passed down from unaffected mothers than from fathers.

The methods used to screen for autism in men will not produce the exact results in women. From this, it can be deduced that women are resistant to mutations that contribute to autism, as compared to men.

The Female Protective Effect
According to a study published on 26th February in the American Journal of Human Genetics, lead researcher Evan Eichler says that women are protected from autism and developmental delay. They require more mutational load, or more mutational hits that are severe, in order to push them over the threshold. Males on the other hand are kind of the canary in the mineshaft, so to speak, and they are much less robust.

According to the ‘female protective effect’, girls require a greater etiologic load to manifest autistic behavioral impairment. This is a different, yet non-exclusive concept from that driving the more extensively investigated hypothesis of male-specific ASD risk.

Other Possibilities
Specialists have considered a second possibility. This one predominantly concentrates on constituents inherent to male development, such as fetal testosterone, that may or may not influence liability toward disordered social behavior.

Various studies and common diagnoses of autism have been researched to better aid the children of determination in Dubai, and the most obvious explanation for autism’s gender bias is because men have only one X chromosome. They are thus considerably hypersensitive to mutations in this chromosome.

If we are to go along with this theory, we must consider that several autism-linked genes are located on the X chromosome. Although, most of the mutations that show a gender bias in newer studies are not on the X chromosome, suggesting that potentially other factors must be involved.

Importance of Understanding the Female Protective Effect

In addition to providing insight into the ASD sex ratio, an understanding of familial risk in boys versus girls with autistic impairments might prove to be extremely informative for future genetic association efforts. Characterizing the factors that protect girls from autism could help researchers develop targeted treatments or lower the risks associated with the condition. Centers focusing on autism therapy in Dubai and autistic child treatment in UAE  can also use future research to be better equipped, and aid families with new-found knowledge. The first concern to be addressed may well be knowing exactly the biological factor that forms the female protective effect.

John Gabrieli, a neuroscientist at the McGovern Institute for Brain Research, stated these studies are striking. It shows that something in the genes or environment is “muting’’ autistic traits in girls.

The Need for Further Research

Aravinda Chakravarti, director of the Center for Complex Disease Genomics comments that we need to re-create the developmental environment to better understand the female protective effect. We need to further delve into what it is about brain development that makes it such that females are protected and receive lesser diagnoses of autism — “ ultimately that is what we won’t know”.

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