Exploring the presence of a sex-specific phenotype of autism spectrum disorder in a random cohort of males and females: a retrospective case note service Audit

Introduction

 

Autism spectrum disorder (ASD) is a neurodevelopmental condition that affects social communication and behavior. ASD is more prevalent in males than females, but the reasons for this sex difference are not well understood. Some studies suggest that there may be a sex-specific phenotype of ASD, meaning that males and females with ASD may have different characteristics and symptoms. However, the evidence for this is inconsistent and limited by methodological issues. Therefore, this study aims to explore the sex difference and phenotype in a clinic sample of individuals diagnosed with ASD.

 

Methods

 

The study used a service evaluation of sex/gender differences on 150 historical ASD assessment reports (75 males, 75 females) using a 103-item questionnaire developed from a quantitative review of existing literature. The questionnaire covered various domains of ASD, such as social communication, restricted and repetitive behaviors, sensory issues, cognitive abilities, mental health, and adaptive functioning. The questionnaire also included items related to sex/gender identity, sexual orientation, and gender dysphoria. The data were analyzed using descriptive statistics, chi-square tests, and t-tests.

 

Results

 

The results showed that males and females with ASD had similar rates of diagnosis, age at diagnosis, and cognitive abilities. However, there were some significant sex differences in the following domains:

  • Social communication: Females with ASD reported more difficulties with social communication than males, especially in understanding social cues, initiating and maintaining conversations, and making friends. Females also reported more camouflaging, or hiding their autistic traits, than males.
  • Restricted and repetitive behaviors: Males with ASD reported more restricted and repetitive behaviors than females, especially in terms of having narrow interests, collecting objects, and engaging in rituals and routines. Males also reported more stereotypies, or repetitive movements, than females.
  • Sensory issues: Females with ASD reported more sensory issues than males, especially in terms of being sensitive to sounds, smells, tastes, and textures. Females also reported more sensory seeking behaviors, such as touching or smelling objects, than males.
  • Mental health: Females with ASD reported more mental health problems than males, especially in terms of anxiety, depression, and self-harm. Females also reported more suicidal ideation and attempts than males.
  • Adaptive functioning: Females with ASD reported lower adaptive functioning than males, especially in terms of daily living skills, socialization, and communication. Females also reported more difficulties with independent living, education, and employment than males.

 

The results also showed that some individuals with ASD had non-binary or transgender identities, diverse sexual orientations, and gender dysphoria. However, there were no significant sex differences in these aspects.

 

Discussion

 

The study provides some evidence for a sex-specific phenotype of ASD in a clinic sample, with females showing more social and emotional difficulties, and males showing more behavioral and cognitive difficulties. The study also highlights the diversity and complexity of sex/gender identity and expression in individuals with ASD. The study has some limitations, such as the retrospective and self-report nature of the data, the small and non-representative sample, and the lack of standardized measures. Therefore, more research is needed to confirm and extend the findings, using larger and more diverse samples, longitudinal and prospective designs, and multiple sources and methods of assessment.

 

Conclusion

 

The study suggests that there may be a sex-specific phenotype of ASD, with different implications for diagnosis, intervention, and support. The study also emphasizes the importance of considering sex/gender identity and expression in individuals with ASD, as well as their mental health and adaptive functioning. The study calls for more awareness and sensitivity to the sex/gender differences and diversity in ASD, and for more tailored and personalized services for individuals with ASD and their families.

 

Faq

What is camouflaging and why do females with ASD do it more than males?

 

Camouflaging is the act of hiding or masking one’s autistic traits in order to fit in with social norms and expectations. Females with ASD may do it more than males because they face more pressure to conform to gender stereotypes and roles, and because they may have more awareness and motivation to socialize.

 

What are stereotypies and why do males with ASD do them more than females?

 

Stereotypies are repetitive movements or postures that are often rhythmic and purposeless, such as rocking, flapping, or spinning. Males with ASD may do them more than females because they may have more severe impairments in sensory processing and motor coordination, and because they may have less inhibition and awareness of social norms.

 

What are sensory issues and why do females with ASD have them more than males?

 

Sensory issues are difficulties in processing and responding to sensory stimuli, such as sounds, smells, tastes, and textures. Females with ASD may have them more than males because they may have more sensitive and complex sensory systems, and because they may have more emotional and physiological reactions to sensory stimuli.

 

What are the common mental health problems in females with ASD and why do they have them more than males?

 

The common mental health problems in females with ASD are anxiety, depression, and self-harm. Females with ASD may have them more than males because they may face more stress and challenges in coping with their ASD symptoms, social expectations, and life transitions. They may also have more internalizing and emotional regulation difficulties, and less access to appropriate diagnosis and support.

 

What are the common adaptive functioning difficulties in females with ASD and why do they have them more than males?

 

The common adaptive functioning difficulties in females with ASD are daily living skills, socialization, and communication. Females with ASD may have them more than males because they may have more impairments in executive functioning, such as planning, organizing, and problem-solving. They may also have more barriers and discrimination in accessing education and employment opportunities, and less social support and resources.

 

What are some of the sex/gender identity and expression aspects in individuals with ASD?

 

Some of the sex/gender identity and expression aspects in individuals with ASD are their biological sex, their gender identity, their gender expression, their sexual orientation, and their gender dysphoria. Biological sex refers to the physical characteristics of one’s body, such as chromosomes, hormones, and genitals. Gender identity refers to one’s internal sense of being male, female, neither, or both. Gender expression refers to one’s outward presentation of gender, such as clothing, hairstyle, and voice. Sexual orientation refers to one’s attraction to others, such as heterosexual, homosexual, bisexual, or asexual. Gender dysphoria refers to one’s distress or discomfort with one’s assigned sex or gender.

 

How common and diverse are sex/gender identity and expression aspects in individuals with ASD?

 

The study found that some individuals with ASD had non-binary or transgender identities, diverse sexual orientations, and gender dysphoria. However, there were no significant sex differences in these aspects. The exact prevalence and diversity of sex/gender identity and expression aspects in individuals with ASD are not well-known, as they may vary depending on the definition, measurement, and sample used. More research is needed to understand and respect the sex/gender identity and expression aspects in individuals with ASD.

 

What are some practical implications and suggestions for clinicians and practitioners working with individuals with ASD?

 

Some practical implications and suggestions for clinicians and practitioners working with individuals with ASD are to be aware and sensitive to the sex/gender differences and diversity in ASD, and to tailor and personalize the assessment, diagnosis, intervention, and support according to the individual’s needs and preferences. Clinicians and practitioners should also consider the sex/gender identity and expression of individuals with ASD, as well as their mental health and adaptive functioning, and provide them with information and resources on these topics. Clinicians and practitioners should also collaborate and communicate with the parents or caregivers of individuals with ASD, and involve them in the decision-making and planning process.

 

What are some educational implications and suggestions for teachers and educators working with students with ASD?

 

Some educational implications and suggestions for teachers and educators working with students with ASD are to be aware and sensitive to the sex/gender differences and diversity in ASD, and to tailor and personalize the curriculum, instruction, and support according to the student’s needs and preferences. Teachers and educators should also consider the sex/gender identity and expression of students with ASD, as well as their mental health and adaptive functioning, and provide them with information and resources on these topics. Teachers and educators should also collaborate and communicate with the parents or caregivers of students with ASD, and involve them in the educational planning and evaluation process.

 

What are some social implications and suggestions for parents or caregivers of individuals with ASD?

 

Some social implications and suggestions for parents or caregivers of individuals with ASD are to be aware and sensitive to the sex/gender differences and diversity in ASD, and to tailor and personalize the care and support according to the individual’s needs and preferences. Parents or caregivers should also consider the sex/gender identity and expression of individuals with ASD, as well as their mental health and adaptive functioning, and provide them with information and resources on these topics. Parents or caregivers should also seek and access professional and peer support, and advocate for the rights and interests of individuals with ASD.

 

What are some personal implications and suggestions for individuals with ASD?

 

Some personal implications and suggestions for individuals with ASD are to be aware and sensitive to the sex/gender differences and diversity in ASD, and to tailor and personalize the self-care and self-advocacy according to one’s needs and preferences. Individuals with ASD should also consider their sex/gender identity and expression, as well as their mental health and adaptive functioning, and seek and access information and resources on these topics. Individuals with ASD should also seek and access professional and peer support, and express their views and feelings.

 

Source:

https://www.emerald.com/insight/content/doi/10.1108/AIA-11-2022-0053/full/html

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