Comorbidities And Developmental Trajectories
According to recent literature , in the present study, both males and females presented a high percentage of co-occurring conditions . The most frequent comorbidity in both groups was ADHD, co-occurring in about 70% of cases, without significant differences between males and females. This evidence differs from previous literature in which ADHD comorbidity appeared more common in males . In accordance with other authors, we hypothesized that the diagnosis of ADHD was underrated in females since females with ADHD have different, more hidden, symptomatology, showing inattentive rather than hyperactive manifestations . Concerning internalizing disorders, our findings were different from previous literature reporting a statistically significant prevalence of internalizing disorders in females, in that we rather found a non-significant trend for anxiety, depressive, and eating disorders in the female group . The mean age of the sample could justify these findings since internalizing and feeding disorders often occur in adolescence or adulthood. In this study we found that caregivers ask for a first specialist medical consultation at different ages and for different reasons: females were referred later to clinical services, particularly for level 1 ASD . This finding fits with previous literature , also showing how females who received an early diagnosis of ASD often have intellectual impairment.
What More Needs To Be Studied
Even though scientists and researchers have some hypotheses about why autism appears to be different in boys than girls, so much of what we know about ASD and gender is unknown. Studies continue to be conducted around the globe focusing on these and other unanswered questions related to diagnosis and genetics:
What are the genetic factors that contribute to ASD?
Are girls more resistant to the genetic mutations and influences that contribute to ASD? If there are genetic protective effects, what are they and how do they operate?
If we understand these inherited mutations that contribute to ASD, what can we learn from how they are passed between parents and children?
Are the differences in ASD prevalence actually related to archaic diagnostic criteria that favor boys?
Are the symptoms of ASD found more commonly in boys seen as more troublesome or problematic to teachers and caregivers than the symptoms more commonly present in girls?
Do we better educate parents and caregivers of boys to be on the look-out for concerns and leave behind girls in the process?
If we know more about gender differences, both genetic and diagnostic, how can that help us provide better services and care to children with ASD?
Amy Sippl
Living In The Space Between The Sexes
The connection between ASD and gender dysmorphia has gone relatively unnoticed up until now. In a very good article from Spectrum Magazine that talks about what it feels like to have GD, they found that:
Between 8 and 10 percent of children and adolescents seen at gender clinics around the world meet the diagnostic criteria for autism, according to studies carried out over the past five years, while roughly 20 percent have autism traits such as impaired social and communication skills or intense focus and attention to detail. Some seek treatment for their gender dysphoria already knowing or suspecting they have autism, but the majority of people in these studies had never sought nor received an autism diagnosis.
The more awareness we have on this topic the sooner we can offer appropriate testing and support for individuals with ASD, and those who do not identify with the bodies in which they were born.
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Misconception : Autism Is The Same For Everyone
Autism is a spectrum each autistic person’s experience is unique.
And that means autistic people can have different support needs. In 2013, the American Psychiatric Association removed Asperger’s Syndrome from the diagnostic manual and changed the diagnosis to Autism Spectrum Disorder. Kayley Whalen with the Autistic Women and Nonbinary Network said Asperger’s was a label that referred to an autistic person who was considered to not have major barriers to functioning in society.
Some autistic people are nonverbal and need an augmentative and alternative communication device. But being nonverbal doesn’t mean they’re less capable of communicating. Brandi Thompson of Plano said her son, who is nonverbal, was grossly underestimated at school.
“In his own words, he was bored and angry, and they treated him like a baby,” Thompson said.
Thompson realized she herself was autistic when her son was diagnosed.
She said her mother worried she was autistic when she was a baby, but decided she was too smart to be autistic.
“People don’t get help unless they’re disruptive,” she said.
Autism Spectrum Disorder And Gender: The Case For Expanding The Autistic Phenotype
This article was originally submitted to the Modern MD competition hosted by the Dartmouth Undergraduate Journal of Science and was recognized as an honorable mention.
Introduction:
To serve their patients most equitably, medical practitioners need to understand how gender should help determine the care and treatment which people receive. Oftentimes, conditions present differently depending on gender. With a male bias in the recognition of symptoms, women often go undiagnosed or misdiagnosed, missing the treatment they deserve and require. This holds especially true in diagnosing autism spectrum disorder, or ASD.
The term ASD encompasses a host of disorders falling along the autism spectrum. These range from autistic disorder to Asperger syndrome to pervasive developmental disorder not otherwise specified, with ASD now the single category defined in the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition, DSM-5 . ASD is a neurodevelopmental disorder marked by issues with social interaction and communication, along with repetitive behaviors and hyper focus. The severity of ASD fluctuates widely on an individual basis .
Causes:
The principal issue behind the underdiagnosis of ASD females is the widespread misunderstanding of how ASD is displayed by females. This misunderstanding stems from a variety of factors, one of which is the higher rates at which females with ASD partake in camouflaging behaviors.
Effects:
Solutions:
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Increased Mutation Burden In Female Asd Patients
We collected DNMs from 5748 ASD trios and 1911 control trios from the ASC, SSC, MSSNG, and other published studies. Our analysis revealed that the probands carried significantly more loss-of-function and deleterious missense mutations than the matched controls, with no difference in tolerant missense mutations .
Fig. 1: Mutation load of functional classes of DNMs in the coding region.
a Mutation load per person in ASD versus control group. b Mutation load per person in male ASD subjects versus male controls. c Mutation load per person in female ASD subjects versus female controls. d Mutation load per person in male ASD subjects versus female ASD subjects. Mutation types are displayed by class. p-values were calculated by Fishers exact test. The p.adjust function in R was employed to calculate the corrected p-values for multiple comparisons, *adjusted p< 0.05, **adjusted p< 0.01, ***adjusted p< 0.001, N.S. not significant. The error bars represent 95% confidence intervals for the mean rates.
Misconception : Autism Is Less Prevalent In People Of Color
People of color are also diagnosed later and less often. According to the CDC, white children are about 30% more likely to be diagnosed with Autism Spectrum Disorder than Black children and around 50% more likely to be diagnosed than Latino children.
A 2014 study found there is no racial or ethnic difference in when parents of autistic children noticed symptoms of autism in their children, but white children are still more likely to be diagnosed.
This bias extends to autism research. Desiree Jones is a third-year PhD candidate at UT Dallas, who says autism research often focuses on the needs of white boys. That can lead autistic children of color to not getting diagnosed.
“If they don’t really fit the mold of what someone thinks autism should be, then maybe they aren’t screened as closely,” Jones said. “They kind of fly under the radar.”
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Reduced Autosomal Penetrance In Females A Final Theory
For completeness we briefly mention a final theory, arising from studies of rare CNVs with ASC ,,,. As mentioned earlier, these scans have not routinely implicated the X chromosome, but this final model proposes that a significant proportion of ASC cases are the result of dominant de novo mutations which have reduced penetrance in females. Statistical analysis of ASC family data has provided supporting evidence . A problem for this theory, however, is that the majority of studies report that the sex ratio in children with ASC and de novo CNVs is 11. This clearly does not fit with reduced penetrance in females . A second problem for this theory is that it does not address why penetrance should be reduced in females. However, we agree that it is critical that large-scale linkage and association studies test for sex-specific effects.
Why Are Autism Spectrum Conditions More Prevalent In Males
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Affiliation Autism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, United Kingdom
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Affiliation Autism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, United Kingdom
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Affiliation Autism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, United Kingdom
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Affiliation Autism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, United Kingdom
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Affiliations Autism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, United Kingdom, Centre for Integrative Neuroscience and Neurodynamics, School of Psychology and Clinical Language Sciences, University of Reading, Reading, United Kingdom
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Affiliations Autism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, United Kingdom, Department of Psychiatry, University of North CarolinaChapel Hill, Chapel Hill, North Carolina, United States of America
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What Are The Benefits Of Improved Understanding Of Autism In Girls
Research on gender differences could help in the development of non-biased diagnostic criteria and diagnostic instruments in future.
- It will raise awareness among health professionals who are involved in early identification and diagnosis of autism. It would help diagnose women those who would otherwise be undiagnosed.
- Understanding of how autism presents differently in females will also help in understanding their different needs and providing them with the right supports and interventions.
- It could also help to understand whether transitions differ in both sexes and if yes, how do we help girls to have successful transitions?
Differences In Motor Skills And Communication Skills
One study looked at the gender differences as related to symptoms of autism and developmental functioning. Those who were assessed in this study included children in the age range of 17 to 37 months who also met the criteria for a diagnosis of autism spectrum disorder .
In this study, no gender differences were found related to symptom severity. However, this study which examined toddlers with ASD, found that girls at this age range had more motor skill deficits but less communication skill deficits compared to boys.
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What Is The Connection Between Autism And Gender Dysphoria
Since the mid-1990s, researchers had puzzled over a series of case reports made on individuals who had been diagnosed with autism spectrum disorder also showing classic traits of gender dysphoria the condition of having a psychological identity with a gender other than the one they were born with.
Both disorders are relatively rare, affecting less than one percent of the population. So the number of reports was striking, but it wasnt until a study was performed in Holland in 2010 that scientists were able to make a solid connection between the two: nearly 8 percent of the more than 200 children and adolescents referred to a clinic for gender dysphoria also came up positive on an assessment for ASD.
A 2002 study on gender dysphoria shows that it may have genetic underpinnings, just as ASD does.
Autism and gender dysphoria have one other unhappy connection, which is that we dont know a lot about the underlying changes in the brain that lead to either condition.
And its not just gender dysphoria, either. In general, gender identity and sexuality seem to be more fluid and less conventional among people with ASD. Studies have found that individuals with ASD tend to have a wider range of sexual orientations than what is found in the general population. They are more likely to:
- Identify as asexual
- Have decreased heterosexual identity and contact
- Increased homosexual attraction
- Not be concerned with the gender identity of their romantic partner
Girls And Autism: Overcoming The Gender Gap To Ensure Best Outcomes
- diagnosis, gender, gender bias, girls, Spring 2020 Issue, support, treatment
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The Centers for Disease Control estimates that 1 in 59 children has autism spectrum disorder , with boys being four times more likely to be diagnosed than girls . Recently, through a meta-analysis of epidemiological studies, it was concluded that the true ratio may be closer to three times more likely in males . We currently have no definitive reason as to why more boys are diagnosed with ASD than girls. This disparity in diagnosis between genders has an effect on how well we as professionals understand autism and how it may impact boys and girls differently. In recent years, the unique presentations of females with ASD has been noted, and the field is just beginning to address the ways in which gender might influence diagnosis, assessment, treatment planning, and the assessment of success in intervention.
Maggie Haag, MEd., BCBA, LSW
Jennifer Labowitz, MS, NCSP, BCBA
References
Attwood, T. . Girls and women who have Aspergers syndrome. In Willey, L. H., Safety skills for Asperger women: How to save a perfectly good female life. London: Jessica Kingsley Publishers.
Cridland, E. K., Jones, S. C., Caputi, P., & Magee, C. A. . Being a girl in a boys world: Investigating the experiences of girls with autism spectrum disorders during adolescence. Journal of Autism and Developmental Disorders, 44, 1261-1274.
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Why Autism Strikes Mostly Boys
Why does autism strike four times as many boys as girls? The answer may lie in specific biological shielding mechanisms that operate in girls, but not boys, even when both sexes have the same genetic defects associated with the disorder.
That conclusion leapt from the data in a study led by University of Minnesota researcher Nicola Grissom, Ph.D., an assistant professor of psychology. Published in Molecular Psychiatry, the study opens a door to understanding and one day better treating the disorder.
Researchers have known about the female protective effect in autism spectrum disorders for quite a while, but the reasons why girls might be protected while boys are vulnerable have remained mysterious, Grissom said.
This effect means a boy has a 1-in-42 chance of being diagnosed, but a girl has only a 1-in-189 chance, according to the Centers for Disease Control. Those who do develop the disorder have difficulty in responding to rewards that would otherwise serve as cues that help shape social behavior.
Definite Increase In Gender Confusion
Mandy Breslow LCSW, MS Ed is a licensed clinical social worker, a mom of two autistic sons, and has a degree in Early Childhood Special Education. She confirmed she has seen a definite increase in gender confusion among her autistic clients in their teens and twenties.
They have such a difficult time figuring out who they are, with gender and sexuality getting thrown into that already full bag of things that all teen angst goes into. It stands to reason that, for someone on the autism spectrum who is already questioning their place in society, their gender identity and sexuality come into question too, she explains.
From my perspective, the gender identity question has become one of the things that teens look for. Just like they have to figure out their own style of clothes, neurotypical and neurodiverse teens now have to define themselves. This is even more of a struggle for neurodiverse kids, who already feel different from others.
Breslow adds that mental health and medical professionals are asking young people more questions about their gender and sexualitywhich means it is not surprising that more neurodiverse teens are questioning those topics.
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Data Collection And Annotation
Data of total 5748 trios and 1911 unaffected controls were collected from recent public trio-based WES/WGS studies,,, on ASD . The patients in these studies were diagnosed with ASD using the gold standard Autism Diagnostic Observation Schedule , the Autism Diagnostic Interview and Autism Diagnostic Interview-Revised . Control samples were composed of unaffected SSC siblings. Only clinical information applied from SFARI base in the SSC was available. Age of the children diagnosed with ASD ranged from 4 to 18 years old, and we estimated the severity of ASD by IQ and restricted repetitive behaviors. Comprehensive annotation of each DNM was performed by ANNOVAR and VarCards with RefSeq as described in our previous studies, including functional implications functional predictions for missense mutations and allele frequencies of different populations from various human genetic variation databases, including gnomAD, ExAC, ESP, and 1000G Genomes Project.
Only coding and splicing-site DNMs were selected for further analysis. In addition, DNMs with a minimum allele frequency> 0.1% in the public human genetic variation databases, mentioned above, were excluded. Deleterious missense mutations were predicted by the combination of REVEL and VEST3 due to their best performance in predicting pathogenicity for missense variants. We categorized deleterious missense DNMs and loss-of-functions DNMs as putative functional DNMs.
Describing Differences In Boys And Girls With Autism
A Swedish study looked at a revised version of an autism screening questionnaire to see if girls with ASD had different traits. The researchers found that girls with ASD were more likely than boys with ASD to avoid demands placed on them, to be careless with their appearance and dress, to interact mostly with younger children, and to be very determined. Boys were more likely to lack a best friend, according to the study, published in 2011.8
Another interesting difference: A monotone or robot-like voice is considered fairly typical of boys with Aspergers or high-functioning autism, but not so with girls. Instead, the girls were more likely to speak in a high-pitched, childish or hoarse voice.8
Psychologist Tony Attwood has also noted this difference in some women with Aspergers. Their tone resembles a much younger person, having an almost child-like quality, he stated in Aspergers and Girls.9
Whether due to culture or biology, girls in the general population are often less aggressive than boys, according to Dr. Attwood. That means girls with ASD are less likely than boys with ASD to have behaviors that trigger a referral to a psychologist or psychiatrist in the first place.
The social difficulties of a passive girl may be discounted by her teachers and parents. A girls failure to make eye contact may be mistaken for shyness, coyness or naiveté, rather than seen as a sign of ASD, according to Sheila Wagner, M.Ed, of the Emory Autism Center.10
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