Helping Give Away Psychological Science/Autism Speaker Series/ The Heterogeneous Phenotype: Predicting Outcomes in ASD

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The Heterogeneous Phenotype: Predicting Outcomes in ASD[edit | edit source]

Rebecca Grzadzinski, Ph.D - Research assistant professor at the University of North Carolina at Chapel Hill, Carolina Institute for Developmental Disabilities

Introduction[edit | edit source]

  • Far fewer females are diagnosed with ASD as compared to males. This largely has to do with the different ways that males and females present ASD
    • For every four boys diagnosed with autism, only one female is diagnosed in childhood. However the true ratio of males to females with autism is closer to 3:1 due to the large number of females that get diagnosed with autism later in life.
  • Diagnosis in females
    • Girls are diagnosed on average two years later than males
      • Average age of diagnosis for males os 4 for females it is 6
    • Girls are more likely to be misdiagnosed than males
    • Diagnosis is heavily influenced by “other” behaviors

Differences for autistic females by school age[edit | edit source]

  • Toddler and preschool
    • Reduced likelihood of being diagnosed with ASD
    • Increased likelihood of diagnostic delay
  • Middle Childhood
    • Greater social motivation
    • Reduced RRB’s
    • More gender typical interests
  • Adolescence and adulthood
    • Sex-specific puberty issues
    • Comorbid psychopathology
    • Social exclusion
    • Sexual vulnerabilities
    • Lower quality of life

The older females with autism get, the better they are able to camouflage their symptoms and appear fine.

Infancy and early milestones[edit | edit source]

  • There are mixed reports on the sex-differences in infancy of individuals wiht autism and neurotypical development
  • In high risk sibling studies, differences between boys and girls do not appear to be ASD-specific
  • Parents of males with ASD report social interaction concerns more than parents of females with ASD
  • Looking to discover what some of the early developmental concerns and milestones are
    • Are there differences in parents reports of early developmental milestones between boys and girls
    • Do parents report these milestones at different times in regard to concern for child's development?

2 current studies[edit | edit source]

  • The study took 195 subjects who were aged 8 to 17 who had all been diagnosed with autism.
    • Parents were asked to report when they first saw symptoms and had concerns about an autism diagnosis
      • Parents of females with autism reported the first concern on average 7 months later than males with autism
      • Before the age of 6 there are very few differences between males and females. (Toddler and preschool years)

Methods[edit | edit source]

  • There are mixed reports of differences in autistic toddlers
    • Potential differences in play behavior
    • Potential differences in gestures
    • Strongest differences in restricted and repetitive behaviors
  • Middle childhood
    • Greater social motivation
    • More typical friends and friendship behaviors
    • Fewer and or different restrictive and repetitive behavior
    • Emergence of camouflage behaviors
  • Eye tracking
    • Provides a noninvasive way to understand attention and motivation
    • Comparable across ages and developmental levels
    • Used frequently in ASD to study social intention and attention to objects
  • What can eye tracking tell researchers about female intention and attention in social situations. Research suggests that males with ASD have reduced attention to faces with lower social motivation and focus most of their attention on their high interest groups.

Study 1 Results[edit | edit source]

  • Sasson and touchstones paired preference paradigm showed individuals (particularly males) focused their attention on the high autism interest object more when paired with a face
  • The question is how will females interact in this same study?
  • Preference is based on the percentage of time spent looking at either the high autism interest object or the face
    • Males spend less time looking at faces and more time looking at the autism interests like trains or clocks
  • Prioritization is the latency to first attend
    • Females are faster to attend to faces than males

Study 2 Results[edit | edit source]

Study 2 was related to circumscribed interest.

These findings were overly focused on males and found:

  • They are more detail oriented
  • More circumscribed
  • Reduced to social image
  • This study wants to use eye tracking to find out if the female attention will different when compared to men and do their interests differ, if so, then how?
    • Exploration is the number of images explored
      • When presented a screen with a variety of images spanning many interests females tended to look at more female images than males (individuals with ASD and Neurotypical females)
    • Detail orientation is based on the number of repeat fixations
      • Males are more detail oriented than females and this attention goes to more male and neutral images
      • ASD males are more detail oriented than ASD females looking at male images

Summary of findings:[edit | edit source]

  • There is evidence that autistic females ahve a protective effect when it comes to social stimuli
  • Male and female individuals with ASD have been observed to still have the typical sex differences
  • Heightened detail orientation tends to be a male phenomena
  • Studies do not fully replicate the large group effects observed in previous studies

Camouflaging in females[edit | edit source]

  • First hand account of mother of ASD female:
    • says that her daughter is able to direct her gaze and attention to a face but it is not that she is looking at you, rather she is booking through you.
    • Says her daughter gets home from school after doing this all day and then crashes because she is so exhausted from trying to fit in all day
  • Females are more likely to employ compensatory behaviors to mitigate some of their social difficulties
    • These behaviors include gestures, linguistic markers, pragmatic language and friendship behaviors.
    • These are all diagnostic markers of ASD in females
    • There is evidence that camouflaging has prolonged impacts and requires significant effort in individuals.

ASD in adolescents and adulthood[edit | edit source]

  • Increased likelihood of late diagnosis
  • Changing nature of friendships and social participation
  • Higher rates of depression, anxiety, suicidal ideation, and eating disorders
  • Increased rates of gender incongruence
  • Poorer outcomes in adulthood
  • Poorer adaptive behaviors
  • Psychological negative impact of camouflaging

Summary and clinical implications[edit | edit source]

  • Differences in early childhood and pre-diagnosis do not seem to be aSD specific
  • Evidence suggests that females are protected in some way or have a social advantage over makes, but only up until adolescence
  • These differences increase females chances of being overlooked by current diagnostic practices
  • Adolescence and adulthood is often accompanied with significant mental health challenges and vulnerabilities
  • Evidence this is reducing and that clinical knowledge is increasing

Sex v. Gender[edit | edit source]

  • Sex is defined at birth and is biological based off of chromosomal makeup. XY is male and XX is female
  • Gender is a socially constructed identity of masculine or feminine
    • Sex and gender are used interchangeably however this is not the case

Gender and ASD[edit | edit source]

  • Does the experience of being a girl and identifying as a girl influence how ASD is expressed and experienced?
  • Does the experience of parenting a girl impact the child's expectations?
  • Want to find out how gender manifests in ASD and how gender influences the expression of ASD
    • A lot of this has to do with gender stereotyping when it comes to the toys that parents give their children
      • Parents are more likely to give their boy children harder object that symbolize masculinity whereas parents of females give them soft nurturing toys that symbolize femininity

Why is gender important?[edit | edit source]

  • Diagnostic tools for ASD are often based on play toys
  • Clinicians have expectation when they see male or female patients
  • Parents also have gendered expectations of their children
  • All of these differences typically fall along the traditional gender lines
  • Between 15-24% of autistic individuals do not affiliate with their assigned sex
  • 22% of autistic females do not identify as female
  • Gender incongruence is associated with poorer mental health and higher suicidality

Future directions[edit | edit source]

  • Including gender identity in research
  • Intervention for females
  • Diagnostic pathways
    • Currently analyzing data from large national dataset to understand sources of diagnosis for females with aSD
    • Asinking families about their diagnostic experiences using an adapted CDC survey
    • Ask parents and guardians about the emergence of symptoms and the context of their original diagnosis, who made the diagnosis, child's current diagnostic status, types of treatments and interventions or educational services used to address the developmental problems, and other parental concerns and or perspectives.

Clinical and practice implications[edit | edit source]

  • ASD females are currently diagnosed and treated in the same way as males
  • Growing evidence suggest this needs to be adapted to fit the female phenotype
    • Play, interests, friendships, social motivations

Clinical considerations: assessment and intervention[edit | edit source]

  • Using sex-specific norms when possible
  • Considering the role of gender in assessment and intervention
  • How do we identify females with ASD earlier