Objectives and competences for the module
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Understand what autism is: Recognize autism as a spectrum of neurological developmental disorders, emphasizing its diversity and uniqueness in
each individual and understanding the relevance of the neurobiological basis.
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Explore the impact of autism on individuals and their families: Discuss the challenges and strengths associated with autism,
and how it affects various aspects of daily life for individuals and their families.
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Identify the symptoms and main characteristics of autism: Distinguish the main areas of development affected by autism, including communication,
social interaction, and behavior patterns.
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Demystify autism: Debunk common myths and understand that autism is not a disease that needs curing but a developmental disorder that one lives with.
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Promote the importance of early detection and intervention: Highlight how early detection and intervention can positively influence the child's development.
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Highlight the need for a multidisciplinary approach: Explain how collaboration between professionals from different areas improves support and development
for the person with autism throughout their life
Module index
1. Introduction to Autism
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Definition of Autism: Symptoms and main characteristics
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History and evolution of the concept of autism.
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Prevalence and risk factors.
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Diversity of autism
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Importance of translational neuroscience
2. Detection and Diagnosis
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Recognising and Diagnosing Autism in Early Childhood
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Diagnosis and evaluation process.
3. Myths and Realities
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Debunking common myths about autism.
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Current perspectives on autism.
4. Impact of autism in individuals and their families.
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Impact of autism in early childhood: strengths and challenges.
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Impact of autism in adolescence: strengths and challenges.
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Impact of autism in adult life: strengths and challenges.
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Impact and challenges for families: strengths and challenges.
5. Resources and Support
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Organizations and resources available for families and professionals.
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Support networks and online communities.
1. Introduction to autism
This chapter provides a comprehensive examination of Autism, beginning with its definition, core features, and
diagnostic criteria. It traces the history of autism from its earliest descriptions to modern understandings,
discusses its prevalence, and explores key risk factors influencing its development. Emphasizing the diversity of
autism, the chapter highlights the wide range of manifestations and individual experiences. Additionally, it
underscores the role of translational neuroscience in advancing research and improving clinical practices.
1.1 Definition of Autism: Symptoms and Main Characteristics
Autism is a set of heterogeneous neurodevelopmental conditions characterized by differences in social interaction, communication, and behavior
(World Health Organization, 2023). These differences typically manifest in early childhood and persist throughout life, affecting an individual's
ability to engage in social relationships, adapt to changes, and navigate daily activities (Hodges et al., 2020; Frith, 2023).
Core Characteristics of Autism (Qin et al., 2024)
Difficulties in social interaction: Individuals with autism often face significant challenges in social interaction, particularly in understanding
emotions, recognizing intentions, and adapting to social norms. These difficulties can make it hard to form and maintain friendships or engage in reciprocal
conversations. A core characteristic of autism, social interaction deficits manifest in struggles with making eye contact, interpreting social cues, and
responding appropriately to social situations, sometimes leading to behaviors that may seem indifferent or unresponsive (Sanchack & Thomas, 2016).
A key concept in understanding social interaction difficulties in individuals with autism is the Theory of Mind (ToM), which refers to the
ability to recognize and interpret another person’s thoughts, feelings, beliefs, and intentions (Baron-Cohen et al., 1985).
Furthermore, individuals with autism may have difficulty sharing enjoyment, interests, or accomplishments with others (Hong et al., 2023).
They often find it challenging to navigate the give-and-take nature of conversations, which can result in social misunderstandings or isolation. Their
interactions may appear rigid or one-sided, making it difficult to establish meaningful connections with peers. Emerging research also suggests that social
difficulties in autism should be understood as a two-way mismatch between autistic and nonautistic individuals, rather than solely as autistic deficits.
Differences in communication styles contribute to these challenges, highlighting the role that both autistic and nonautistic individuals play in social
interactions (Davis & Crompton, 2021).
These social challenges can have lasting effects on an individual’s personal and professional life, influencing their ability to integrate
into social and work environments. Developing social skills is crucial for fostering relationships and achieving independence, and
difficulties in this area can significantly impact overall quality of life. Effective support and targeted interventions can help individuals
with autism build essential social competencies and improve their ability to engage with others.
Communication deficits: Communication difficulties are another hallmark of autism, ranging from delayed speech development to an absence of
verbal communication.
Individuals with autism often show notable differences in both verbal and non-verbal communication. Verbal challenges include delayed speech development,
limited speech, echolalia, or a complete absence of spoken language. These issues may persist into adulthood and affect the individual’s ability to engage
in social interactions effectively (Baird et al., 2003).
Non-verbal communication is also significantly affected. Individuals with autism may struggle with using and interpreting gestures, facial expressions,
and body language.
This lack of non-verbal communicative skills can make it difficult for them to understand others' emotions and expressions, further complicating social
interactions (Sanchack & Thomas, 2016).
The complexity of these communication issues varies widely, often depending on the position on the autism spectrum and the individual's developmental level.
Even those with typical language abilities may struggle with conversational nuances, emotional expression, or understanding nonverbal cues such as body language
and facial expressions.
Repetitive behaviors and restricted interests: Repetitive behaviors and restricted interests are core characteristics of autism. Individuals often demonstrate
deep, intense focus on specific subjects or activities to the exclusion of others. These might include preoccupations with certain topics, unusual routines, or
repetitive behaviors such as rocking, hand-flapping, or echolalia, and a strong preference for rigid routines. These behaviors serve various functions, such as
providing a sense of order and predictability, managing anxiety, or expressing excitement. While they can be beneficial as coping mechanisms in an unpredictable
environment, they may also interfere with daily functioning or contribute to social isolation. Understanding and addressing these behaviors in educational and
therapeutic settings is crucial for supporting individuals with autism in navigating their environments effectively (Sanchack & Thomas, 2016).
Sex differences exist in the presentation of stereotyped behaviors and restricted interests, with autistic males generally exhibiting these traits at higher rates
than autistic females. Additionally, qualitative variations have been observed in how these behaviors manifest, particularly in the nature of restricted interests
among females. Clinicians must be aware of these distinctions, as they may contribute to the underdiagnosis of autism in females and may not be adequately captured
by existing diagnostic tools (Edwards et al., 2024).
Sensory sensitivities: Sensory processing differences are prevalent in individuals with autism, manifesting as heightened or diminished
responses to sensory stimuli such as sounds, lights, textures, and tastes. These sensitivities can profoundly affect daily life, influencing
preferences in clothing, food, and even occupational choices. Some individuals may experience extreme discomfort from specific sensory inputs,
while others may exhibit reduced responsiveness to pain or temperature. Given their significant impact on quality of life, personalized
accommodations are often necessary to create supportive and comfortable environments (Patil & Kaple, 2023; Hong et al., 2023).
Autism can also be influenced by co-occurring conditions, including attention deficit hyperactivity disorder (ADHD), epilepsy, dyspraxia, anxiety
disorders, sleep disturbances, phobias, emotional dysregulation, gastrointestinal issues, and, in some cases, self-injurious behaviors (Gałecki &
Szulc, 2018; Micai et al., 2023).
Diagnostic classification
The latest diagnostic frameworks, including the International Classification of Diseases (ICD-11) (World Health Organization, 2022) and the Diagnostic and Statistical
Manual of Mental Disorders (DSM-5) (American Psychiatric Association, 2013) recognize autism as a spectrum disorder, rather than a single, uniform condition.
This means that autism presents with a wide range of intellectual, linguistic, and functional abilities, leading to significant variability among individuals.
Some individuals require minimal support in their daily lives, while others need substantial assistance to navigate their environment. Diagnosis is typically made
through a comprehensive assessment that includes clinical observations, developmental history, and standardized diagnostic tools.
To reflect these differences, the DSM-5 introduces a three-tiered classification system that assesses the level of support required based on communication
abilities and restrictive or repetitive behaviors:
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Level 1 – 'Requires Support' Individuals at this level experience difficulties in social interactions due to communication deficits. They may struggle with
initiating and sustaining conversations, and their responses can sometimes be perceived as atypical or inappropriate. Their behavior tends to be rigid, making
adaptation to new situations challenging. Difficulties with organization and planning can hinder their independence, requiring structured support to function
effectively in daily life. While they may possess average or above-average intelligence, their challenges in social cognition and flexibility can impact their
academic and professional success.
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Level 2 – 'Requires Substantial Support' At this level, social functioning is significantly impaired despite external support. Individuals may initiate
interactions infrequently, and both verbal and non-verbal communication deficits are more pronounced. Conversations are often limited to specific, highly focused
topics of interest. A strong resistance to change and an inflexible approach to routines lead to considerable difficulty in adapting to new environments or demands.
These individuals often struggle with emotional regulation and may display distress or behavioral outbursts when faced with unexpected changes or sensory overload.
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Level 3 – 'Requires Very Substantial Support' Individuals at this level experience severe communication impairments, often using only a few words or relying on
alternative means to express basic needs. Their ability to engage in reciprocal social interactions is minimal, often responding only to direct cues. Behavioral rigidity
and intolerance to change are extreme, severely restricting their ability to function independently in daily life. Continuous, intensive support is required to ensure
their well-being and safety. Many individuals at this level may also have intellectual disabilities and require lifelong care and assistance.
Societal Perspectives and Advocacy
Awareness and acceptance of autism have increased significantly in recent years, leading to improved policies, workplace accommodations, and educational resources.
The neurodiversity movement has played a crucial role in shifting perceptions of autism, advocating for the recognition of autism as a natural variation of human
neurology rather than a disorder to be "cured." Many self-advocates emphasize the importance of inclusion, self-determination, and respect for different ways of
thinking and experiencing the world.
However, challenges remain, particularly regarding access to support services, diagnostic disparities, and public understanding. Many autistic individuals and their
families continue to face barriers in healthcare, education, and employment, highlighting the need for ongoing research, policy improvements, and societal change.
1.2 History and evolution of the concept of autism
The term "autismos" is derived from two Greek words: "autos" (self) and "ismos" (a suffix meaning action or state). It is used to describe a patient's idiosyncratic and
self-focused states, leading to withdrawal into a world of personal fantasies (Goldstein & Naglieri, 2017). The term was first introduced in 1911 by Eugen Bleuler,
best known for his work on schizophrenia (Bleuler, 1950). In 1943, Leo Kanner published an article in the journal Nervous Child, in which he borrowed Bleuler's term
while introducing the modern concept of autism (Kanner, 1943). Kanner's study analyzed the behavior of 11 children who exhibited rigidity and inflexibility in their
actions and reacted negatively to changes in their environment and daily routines. He also noted deficits in symbolization, comprehension, and abstract thinking. Like
Bleuler, Kanner observed that these children seemed to exist in their own world and lacked typical social interactions. However, he hypothesized that autism was distinct
from schizophrenia, arising from a specific developmental disorder. He further proposed that these children lacked the biological capacity to analyze and synthesize
social information, leading to severe communication deficits and a lack of motivation for interpersonal relationships (Golt & Kana, 2022).
Kanner believed that autism was a genetic disorder and observed that many of his patients' parents were academically and professionally successful. However, despite
recognizing its biological basis, he also suggested that upbringing could play a role, which inadvertently laid the groundwork for psychoanalytic theories that
emphasized environmental influences —particularly family dynamics— as contributing factors. This perspective led to the development of the "refrigerator mother"
hypothesis, popularized by Bruno Bettelheim in The Empty Fortress (Bettelheim, 1967), which wrongly blamed emotionally distant parenting for autism. This misguided
theory contributed to stigma and parental guilt but was later debunked by research, notably the work of Dr. Bernard Rimland, who emphasized the biological and
neurological foundations of autism (Galeck & Sszulc, 2018; Golt & Kana, 2022). Numerous scientific studies have since confirmed that interactional difficulties
originate within the child rather than being a result of parental behavior. Contemporary research supports the notion that biological and genetic factors contribute
to susceptibility to autism (Goldstein & Naglieri, 2017).
A year after Kanner's seminal work, Viennese physician Hans Asperger published a parallel study in which he described similar social difficulties among his patients,
using the term "autistic psychopathy" (Asperger, 1944). This condition later appeared in the DSM-IV-TR classification as "Asperger's syndrome" (American Psychiatric
Association, 2000; Goldstein & Naglieri, 2017). The children Asperger studied differed from Kanner's in certain aspects, particularly in their intellectual and language
abilities, which remained intact in Asperger's group. This distinction led to the recognition of Asperger's syndrome as a separate condition with a unique symptom
profile that did not fully align with childhood autism (Drabata, 2021). According to the criteria outlined in the ICD-10, Asperger’s syndrome was diagnosed in the
absence of clinically significant delays in spoken language or comprehension (World Health Organization, 2004). Up to age three, adaptive behavior and curiosity about
the environment align with intellectual development. However, social difficulties become evident, including limited use of eye contact and other nonverbal cues, as
well as challenges in peer interactions, particularly in emotional and social reciprocity. Individuals with Asperger’s often exhibit intense, narrow interests and
rigid behavioral patterns, such as a strong adherence to routines and motor stereotypies like finger tapping or an unusual focus on object details.
In 1966, Andreas Rett identified a developmental disorder in girls who initially exhibited typical development before experiencing a regression between 7 and 24 months
of age. Rett syndrome, classified in the DSM-IV, is characterized by partial or complete loss of speech, motor skills, and hand function, along with decelerated head
growth (American Psychiatric Association, 1994; Goldstein & Naglieri, 2017). According to ICD-10, Rett syndrome is distinguished by normal development up to five
months of age, followed by a slowdown in head growth and loss of purposeful hand use between five months and four years of age (World Health Organization, 2004).
This regression is accompanied by motor stereotypies and deficits in language expression and comprehension, which hinder social development. However, subsequent
revisions to diagnostic classifications removed Rett syndrome from the autism spectrum.
Until the 1970s, autism was classified as a form of schizophrenia. Both the first and second editions of the Diagnostic and Statistical Manual of Mental Disorders (DSM)
used the term "childhood schizophrenia" to describe autistic children (American Psychiatric Association, 1952; American Psychiatric Association, 1968). However,
advancements in experimental psychology, epidemiology, and genetics during the 1960s and 1970s underscored the necessity of an operational definition of autism to
ensure consistency in research findings. The third edition of the DSM (DSM-III) officially recognized autism as a distinct disorder, providing specific symptom
descriptions and diagnostic guidelines (American Psychiatric Association, 1980). The DSM-III-R later introduced refinements to enhance diagnostic reliability (American
Psychiatric Association, 1987; Drabata, 2021).
The ICD-10, still in use in some contexts, classified autism under pervasive developmental disorders, emphasizing qualitative impairments in social interaction and
communication, as well as restricted, stereotyped, and repetitive behavioral patterns. It distinguished between infantile autism (manifesting before age three),
atypical autism (not meeting all diagnostic criteria and emerging after age three), Rett syndrome, and Asperger's syndrome (World Health Organization, 2004).
The diagnostic criteria for autism underwent a major revision with the introduction of the DSM-5 in 2013, which replaced distinct subtypes—such as Asperger’s Disorder
and Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS)—with the unified category of Autism Spectrum Disorder (ASD). This shift moved away from a
categorical framework to a dimensional approach, recognizing autism as a continuum of severity rather than distinct diagnoses. The DSM-5 organizes core symptoms into
two domains: deficits in social communication and interaction, and restricted, repetitive behaviors and interests. Key updates included the removal of delayed or absent
language development as a diagnostic criterion, the expansion of the symptom onset period beyond age three, and the introduction of Social (Pragmatic) Communication
Disorder (SCD) for individuals with social difficulties but without restricted or repetitive behaviors (American Psychiatric Association, 2013; Goldstein & Naglieri,
2017). The DSM-5 remains the primary diagnostic framework in clinical practice, with severity levels ranging from mild to severe based on functional impact (Posar &
Visconti, 2023).
The ICD-11, published by the World Health Organization in 2022, also defines ASD by persistent difficulties in social interaction and communication alongside
restricted and repetitive behaviors. While similar to the DSM-5 in recognizing autism as a spectrum, the ICD-11 takes a broader approach, emphasizing early
onset and significant impairments across various life domains (Petti et al., 2022; Krawczyk & Święcicki, 2020). Unlike the DSM-5, it does not impose strict
social communication criteria, which allows for a more flexible diagnosis but may reduce specificity. Additionally, the ICD-11 places a greater focus on
individuals without intellectual or verbal impairments, potentially underrepresenting those with more profound support needs.
Despite some differences, both classification systems have converged in recent revisions, reflecting a shared understanding of autism as a heterogeneous condition.
The reclassification of Asperger’s Disorder and PDD-NOS within ASD in the DSM-5 marked a major shift, aligning more closely with the ICD-11’s broader
conceptualization of autism. However, variations remain due to the distinct purposes of these frameworks: the DSM-5 is designed primarily for clinical diagnosis and
research, while the ICD-11 serves a global public health function, guiding epidemiological tracking and healthcare resource allocation (First et al., 2015).
The understanding of autism has evolved significantly over time, reflected in successive updates to diagnostic criteria. Now recognized as a complex, multi-generational
condition, autism arises from an interplay between genetic predisposition and teratogenic factors during fetal development, disrupting higher-order neural
functions(Gałecki & Szulc, 2018). As research progresses, ongoing advancements continue to refine diagnostic frameworks, deepening the understanding of autism and
enhancing the precision of identification and support strategies.
1.3 Prevalence and risk factors
Autism prevalence
The global prevalence of autism has risen significantly over the past few decades, driven by increased awareness, evolving diagnostic criteria,
and enhanced screening practices (Lyall et al., 2017). Currently, approximately 1 in 100 children worldwide are diagnosed with autism, though
estimates vary considerably across sociodemographic groups and geographic regions (Zeidan, 2022).
Meta-analyses provide more detailed prevalence breakdowns, highlighting the complexity of autism epidemiology. The overall pooled prevalence is
estimated at 0.72% (95% CI = 0.61–0.85), with specific rates of 0.25% (95% CI = 0.18–0.33) for Autistic Disorder, 0.13% (95% CI = 0.07–0.20) for Asperger Syndrome,
and 0.18% (95% CI = 0.10–0.28) for Atypical Autism (AA) and Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS) combined (Talantseva et al., 2023).
These variations reflect both methodological differences in prevalence studies and changes in the conceptualization of autism over time.
Regional and methodological factors further shape prevalence estimates. Studies using records-review surveillance tend to report higher rates than those employing
other methodologies (Talantseva et al., 2023). Geographically, North America consistently shows higher prevalence compared to other regions, with the United States
registering some of the highest estimates. Additionally, autism prevalence is generally higher in high-income countries than in lower-income ones, likely due to
differences in diagnostic access and awareness. Age-related trends also emerge, with prevalence peaking in children aged 6–12 years, compared to lower rates in
children under 5 or over 13 years (Talantseva et al., 2023).
Despite the growing recognition of autism, global trends in prevalence, incidence, and disability-adjusted life years (DALYs) remain an area of active research.
Data from the Global Burden of Diseases, Injuries, and Risk Factors Study indicate that while the overall age-standardized prevalence of autism remained stable
between 1990 and 2019, both prevalence and DALYs increased in high socio-demographic index (SDI) countries. In contrast, some low-SDI countries experienced a
decline in age-standardized incidence, suggesting gaps in awareness and diagnostic capacity. Another notable shift is the decreasing male-to-female diagnostic
ratio, which may reflect increased recognition of autism in females, a group historically underdiagnosed (Solmi et al., 2022).
Large-scale reviews further illustrate the variability in autism prevalence worldwide. A meta-analysis of 74 studies involving 30,212,757 participants estimated
the global prevalence at 0.6% (95% CI: 0.4–1%). Regional differences were also observed, with prevalence rates of 0.4% (95% CI: 0.1–1) in Asia, 1% (95% CI: 0.8–1.1)
in the Americas, 0.5% (95% CI: 0.2–1) in Europe, 1% (95% CI: 0.3–3.1) in Africa, and 1.7% (95% CI: 0.5–6.1) in Australia (Salari et al., 2022). These disparities
highlight the need for improved ASD detection in lower-income regions while emphasizing the growing demand for better support and intervention strategies in
high-income countries, where prevalence continues to rise (Salari et al., 2022).
Risk factors for autism
Autism arises from a complex interplay between genetic and environmental influences. Heritability estimates range from 40% to 90%, underscoring the strong genetic
basis of autism (Wang & Wang, 2024). Advances in genomic research have identified numerous autism-associated genes, including neuroligins, neurexins, GABA receptors,
cadherins, and SHANK family members, many of which are also implicated in other neurodevelopmental conditions (Chaste & Leboyer, 2012). Genomic sequencing has further
revealed a combination of de novo mutations and rare inherited variants that contribute to autism susceptibility, highlighting the genetic heterogeneity of the
condition.
Environmental factors further shape autism risk, particularly during prenatal and perinatal periods. Parental age has been linked to autism, with increased risk
associated with both advanced maternal (≥40 years) and paternal (≥50 years) age, as well as younger maternal age (≤20 years) in some studies. Maternal health
conditions, including obesity and diabetes, have also been identified as significant risk factors, with research showing a 62% increased likelihood of autism in
children of diabetic mothers. Nutritional deficiencies, particularly in folic acid, vitamin D, and zinc, may also play a role in fetal neurodevelopment, with studies
suggesting that adequate prenatal supplementation could reduce autism risk (Wang & Wang, 2024).
Prenatal and perinatal complications, such as prematurity, low birth weight, and hypoxia, contribute to autism risk, though they are considered secondary rather than
primary causal factors. Additionally, exposure to environmental toxins—including heavy metals (lead, mercury), air pollutants, pesticides, and tobacco—has been
associated with neurodevelopmental disruptions (Yenkoyan et al., 2024). Certain medications, such as valproic acid and β2-adrenergic agonists, have also been
implicated in increasing autism susceptibility. Maternal infections during pregnancy, including viral and bacterial infections, may induce inflammatory responses
that influence fetal brain development, further contributing to autism risk (Wang & Wang, 2024).
Neuroimaging studies highlight structural and functional differences in autistic individuals, particularly in brain regions governing social cognition, sensory
processing, and executive function. These findings reinforce the neurobiological nature of autism, distinguishing it from purely behavioral or psychological conditions.
Functional connectivity differences in neural networks suggest atypical synaptic signaling, which may underlie sensory sensitivities and difficulties with information
processing commonly observed in autistic individuals.
Emerging research explores the interplay between genetic predisposition and environmental influences, emphasizing their combined role in shaping autism severity and
presentation. Disruptions in synaptic signaling, immune system dysregulation, and alterations in the brain-gut axis are key areas of investigation, potentially
guiding future therapeutic strategies (Wang et al., 2023). The role of the gut microbiome in neurodevelopment is an active area of study, with evidence suggesting
that microbial imbalances could influence neurological function and behavior. Further studies aim to clarify these mechanisms to inform targeted interventions and
preventive approaches (Chaste & Leboyer, 2012).
1.4 Diversity of autism
The latest DSM-5 classification emphasizes that autism spectrum disorders (ASD) can manifest in diverse ways and with varying degrees of
severity. The term spectrum reflects the wide range of intellectual and language abilities among autistic individuals while acknowledging the
presence of core diagnostic features (American Psychiatric Association, 2013). The level of functional impact varies significantly and is
influenced by multiple factors, including gender, intellectual ability, co-occurring conditions, and even aspects of identity such as sex and
sexual orientation. Additionally, cultural differences shape how autism is perceived, as norms for social interaction—such as eye contact and
other nonverbal behaviors—differ across societies.
A growing perspective views autism as a form of neurodivergence rather than a disorder, framing it as a natural variation in cognitive functioning
rather than a deviation from a neurotypical norm. This approach shifts away from a pathologizing framework, emphasizing the diversity of human
perception and cognition while actively working to reduce the stigma surrounding autism. Within this framework, autism is understood as an identity
to be acknowledged, accepted, and supported. Acceptance fosters a sense of belonging within a community of individuals with shared characteristics and
challenges, allowing for mutual understanding and validation of lived experiences (Prizant & Fields-Meyer, 2023).
As stated before, the prevalence of autism has risen over time, with co-occurring conditions adding further variability to its clinical presentation
(Bougeard et al., 2021).
Intellectual disability co-occurs with autism in approximately 70% of cases (Schwartz & Neri, 2012). However, cognitive abilities among autistic
individuals are highly heterogeneous, making intellectual assessment complex and requiring careful interpretation. Traditional intelligence quotient
(IQ) scores, which represent an average of various cognitive domains, often fail to capture the true functional profile of autistic individuals, as
performance can vary significantly across different subscales. Notably, around 10% of autistic individuals demonstrate exceptional, specialized
abilities—such as extraordinary memory for specific facts, advanced mathematical calculations, or heightened musical and visual-spatial skills—at
rates higher than the general population. Intelligence testing is therefore essential not only for identifying areas of difficulty but also for
recognizing strengths that may guide early intervention and support strategies (Goldstein & Naglieri, 2017).
Autism also frequently coexists with language-related challenges, including difficulties with reading, writing, and arithmetic, as well as structural
language impairments affecting sentence comprehension and construction.
Behavioral and psychiatric conditions are also common in autism, with anxiety, ADHD, obsessive-compulsive disorder, and mood disorders being frequently
co-occurring (Hodges et al., 2020): ADHD is reported in 25% to 81% of individuals with autism, and anxiety and depression are present in 42% and 37% of
adults with autism, respectively. In children seeking treatment, 42% have anxiety disorders, 46% have oppositional defiant disorder, and 8% have mood
disorders (Hodges et al., 2020). According to the DSM-5, approximately 70% of autistic individuals have at least one co-occurring psychiatric condition,
while 40% have two or more (American Psychiatric Association, 2013). In many cases, individuals experience psychiatric symptoms that do not fully meet the
diagnostic criteria for a distinct disorder but still impact daily functioning. The high prevalence of co-occurring conditions underscores the complexity
of managing autism alongside other health and behavioral challenges.
Attention-deficit hyperactivity disorder (ADHD) is characterized by difficulties with attention regulation, impulsivity, and hyperactivity (American Psychiatric
Association, 2013). ADHD is more frequently diagnosed in autistic individuals without intellectual disability than in the general population (Swetlik et al., 2019).
However, its presentation in autism may differ from typical ADHD symptoms. Autistic individuals with ADHD may struggle with following instructions, maintaining
organization, or managing conversational turn-taking. Some symptoms traditionally associated with ADHD, such as difficulty adhering to social norms, may actually
stem from autistic social differences rather than attentional deficits, underscoring the need for careful clinical observation. While ADHD is marked by an inability
to sustain attention and a susceptibility to external distractions, autistic individuals may experience hyperfocus on specific interests combined with internal
distractibility. Importantly, research indicates that the co-occurrence of ADHD and autism significantly increases the risk of depression, anxiety, and other
psychiatric conditions compared to ADHD alone (Casseus et al., 2023).
Autism significantly influences the presentation of mood disorder symptoms. For instance, feelings of guilt, a common feature of depressive disorders, may be
absent in autistic individuals due to cognitive differences such as limited insight, difficulties with conceptual understanding, or reduced social comparison.
Instead, mood disorders in autism may present as increased aggression, self-injurious behavior, heightened obsessive-compulsive tendencies, or a general decline
in daily functioning (Goldstein & Naglieri, 2017).
Autistic individuals are four times more likely to experience depression than the general population, making it the most common mental health condition among this group.
Many report inadequate social support, and the resulting loneliness is a key factor in mood deterioration and increased suicide risk (Hedley et al., 2018).
In bipolar disorder, depressive episodes alternate with periods of mania, characterized by elevated or irritable mood, psychomotor agitation, reduced need for sleep,
distractibility, and racing thoughts (American Psychiatric Association, 2013). Differentiating these symptoms from autism can be challenging, as autistic individuals
may also exhibit irritability, hyperactivity, talkativeness, fearlessness, and a naturally lower need for sleep (Goldstein & Naglieri, 2017).
Autistic individuals often experience heightened anxiety to varying degrees, which can be triggered by difficulties in understanding certain situations, such as
thunderstorms or unexpected changes. In some cases, this anxiety may meet the diagnostic criteria for an anxiety disorder or obsessive-compulsive disorder (OCD).
However, distinguishing between these conditions in autism can be challenging due to differences in self-awareness, difficulty articulating internal experiences,
and variations in the motivation behind certain behaviors. For example, repetitive actions or rigid routines may stem from anxiety or be an intrinsic part of autism,
making clinical differentiation complex (Goldstein & Naglieri, 2017).
Mood and behavioral fluctuations in autism are often triggered by routine disruptions, environmental changes, or sensory and regulatory challenges rather than true
affective episodes. These stressors can lead to irritability, emotional reactivity, psychomotor agitation, and insomnia, which may be mistaken for mania (Dunalska et al.,
2020). One of the most effective ways to assess psychiatric disorders in autism is by identifying deviations from an individual’s baseline behavior, such as a shift from
previously manageable behaviors to sudden, uncontrolled outbursts (Goldstein & Naglieri, 2017).
Social isolation and alienation can have severe psychological consequences, particularly for autistic individuals, increasing their risk of mood disorders and suicidal thoughts.
Young autistic adults are especially vulnerable, facing higher rates of suicide attempts and deaths (Ruggieri, 2020). Contributing factors include unmet social needs,
chronic stress from navigating a neurotypical world, and barriers to accessing appropriate mental health care. Addressing these risks requires a comprehensive approach
that promotes social inclusion, autism-informed mental health support, and greater awareness of the unique challenges autistic individuals face (Hedley et al., 2018)
Common co-occurring medical conditions in autism include gastrointestinal (GI) disorders, sleep problems, obesity, and seizures (Hodges et al., 2020): Studies have shown that
around 20% of individuals with autism have epilepsy, while 10-12% experience GI issues such as diarrhea, constipation, or reflux. Epilepsy is more prevalent in those with
autism and comorbid intellectual disability (ID), especially in cases involving higher-risk conditions like tuberous sclerosis complex. Sleep disturbances affect 50-73% of
individuals with autism, and the prevalence of obesity and overweight is notably higher in this group compared to typically developing children.
Autism has traditionally been diagnosed more frequently in males, but emerging research suggests the actual male-to-female ratio is closer to 3:1 rather than 4:1. Girls
and women with autism are at a significantly higher risk of being misdiagnosed, diagnosed late, or entirely overlooked. This underdiagnosis is influenced by several
factors, including gender biases, the historical perception of autism as a predominantly male condition, and differences in how autistic traits manifest across genders
(Hodges et al., 2020).
Autistic girls often exhibit more subtle traits, particularly those with average or above-average intelligence and fluent language skills. Many develop strong compensatory
strategies, such as masking or camouflaging—consciously or unconsciously mimicking neurotypical social behaviors to fit in. While this can help them navigate social
interactions, it also makes their struggles less visible to clinicians, educators, and even family members. As a result, their autistic traits are frequently misattributed
to anxiety, depression, or other mental health conditions, delaying access to appropriate support. The high rate of co-occurring conditions in autistic females, including
anxiety disorders, tic disorders, depression, eating disorders, and suicidality, further complicates diagnosis (Rynkiewicz et al., 2019).
Early diagnosis and intervention are crucial for supporting autistic girls and women in developing a positive self-identity, understanding their needs, and accessing
appropriate educational, social, and occupational support. Without recognition and accommodations, they may struggle with relationships, academic achievement, and
workplace challenges. Social difficulties, combined with differences in social judgment and overconfidence, can also increase their vulnerability to various forms of
abuse, particularly sexual exploitation. Specialized therapeutic support is essential to address these risks and to empower autistic women with the knowledge and tools
to navigate social and professional environments safely.
Like everyone, autistic individuals have a fundamental need for love, connection, and meaningful relationships. However, they may face unique challenges in understanding
romantic communication, interpreting subtle social cues, and expressing their own emotional and physical needs. Their experiences with romance and sexuality are as diverse
as those of neurotypical individuals, encompassing a wide range of identities and relationship structures (Dewinter et al., 2017). Ensuring access to comprehensive,
autism-informed education on relationships and sexuality is key to fostering healthy, fulfilling connections.
In summary, the picture of autsm is highly variable due to intellectual level, gender, comorbidities and other individual factors. It requires great diagnostic insight and an
individualised therapeutic approach to ensure that autistic people are able to develop and fulfil their potential and increase their adaptability. There are many forms
of support that, if properly chosen, will help to build their independence and give them the opportunity to lead fulfilling lives, both personally and
professionally.
1.5 Importance of translational neuroscience
Translational neuroscience plays a pivotal role in enhancing our understanding and treatment of Autism. This interdisciplinary field merges
in-depth scientific research with practical clinical applications, unveiling the complex interplay of genetic, neurobiological, and
environmental factors that contribute to autism.
Research in translational neuroscience begins with examining how divergent brain development in individuals with autism can impact brain function.
Studies indicate that certain neurons may not migrate correctly during brain development, significantly affecting overall brain activity. For instance,
Casanova and colleagues (2020) demonstrated how these insights lead to the development of targeted treatments, such as transcranial magnetic stimulation (TMS),
which has shown potential in enhancing cognitive functions by modulating brain activity.
Genetic research also holds a crucial role in the field. The extensive study by Satterstrom et al. (2020) identified numerous genes that influence neurodevelopmental
and neurophysiological pathways. This knowledge emphasizes the importance of early genetic screening and the potential for developing gene-targeted therapies tailored
to individual needs, thereby enhancing the precision of treatments. Moreover, advanced neuroimaging techniques have become invaluable in providing insights into structural
and functional brain changes throughout an individual's life. These technologies aid in the early detection of autism and in monitoring the efficacy of treatments
(Ecker et al.,, 2015).
Ethical and social considerations are paramount in translational neuroscience. Manzini et al. (2021) discuss the significant ethical questions raised by the potential implications
of early intervention and diagnosis, particularly concerning the risks of stigmatization and the appropriate timing for introducing diagnoses and treatments. This
underscores the need for a thoughtful, multidisciplinary approach to ensure that interventions respect individual rights and are delivered effectively.
Looking ahead, the focus of translational neuroscience is increasingly moving towards more personalized medical interventions for autism. Molloy et al. (2023) explore the implications
of synaptic gene conditions or synaptopathies, which involve disruptions in genes critical for synaptic biology. These conditions are often associated with autism and
developmental delays and may lead to various neuropsychiatric outcomes. Understanding these synaptic dysfunctions opens new avenues for therapeutic interventions targeted
at these molecular pathways, potentially revolutionizing treatment approaches. Additionally, pioneering research by Klin (2023) highlights the importance of early
developmental trajectories in autism. Klin’s work focuses on advancing methods for early diagnosis through the study of social visual engagement, which could significantly
enhance early detection and intervention strategies. This research holds promise for altering the course of the disorder by enabling interventions at critical
developmental stages, thereby optimizing long-term outcomes for individuals with autism.
In summary, translational neuroscience is key to unraveling the complex etiology of autism and advancing effective therapeutic interventions. By integrating insights from genetics,
neurobiology, and clinical research, this field is continuously evolving, striving to refine and personalize treatment strategies to significantly improve the lives of
individuals with autism.
2. Detection and Diagnosis
This chapter explores the detection and diagnosis of autism, highlighting key aspects of the process:
1. Early Warning Signs – Indicators that may suggest autism in infancy and early childhood, such as delayed speech, limited eye contact,
lack of social engagement, repetitive behaviors, and unusual sensory responses.
2. Diagnosis and Evaluation Process – A comprehensive assessment involving medical history, behavioral observations, and input from caregivers
and professionals to determine the presence of autism.
3. Assessment Tools and Scales Used – Standardized instruments, such as the Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview-Revised (ADI-R),
which help clinicians evaluate symptoms and determine an accurate diagnosis.
Since autism presents with a wide range of characteristics and severity, early and precise identification is crucial for timely intervention and support.
2.1 Recognising and Diagnosing Autism in Early Childhood
The early identification of autism is pivotal for enabling effective intervention strategies, significantly enhancing developmental outcomes
over time. Early signs, manifesting before the age of three, can be observed as early as six months. These include the absence of social
smiling, delayed babbling, and poor eye contact. As children grow, these signs can develop into more noticeable communication issues, such
as delayed speech and minimal use of communicative gestures like pointing or waving by twelve to eighteen months.
Behavioral indications at this early stage may include a limited interest in social games, a preference for solitary play, and an apparent disregard
for social cues. Notably, sensory sensitivities—either an overreaction to minor sounds and textures or an unusual tolerance to intense sensory input—are
also common early indicators. These signs necessitate careful monitoring by caregivers and early consultation with healthcare professionals (Baird et al., 2003).
Although ASD screening is recommended at 18 months using the M-CHAT, research on high-risk siblings has identified behavioral markers of autism as early as 12 months.
The M-CHAT (Modified Checklist for Autism in Toddlers) is a widely used tool designed to identify early signs of autism in children between 16 and 30 months of age,
focusing on a range of developmental behaviors.
For universal screening, the ITC/CSBS-DP (Infant-Toddler Checklist for the Communication and Symbolic Behavior Scales Developmental
Profile) has been proposed for use from 12 months. This tool helps assess communication and social development, which are key areas affected by autism.
Alongside the M-CHAT-R/F (M-CHAT with Follow-Up), used from 15 months, this approach could enhance early autism detection within healthcare systems, facilitating
timely intervention for at-risk children (Salgado-Cacho et al., 2021).
Early autism diagnosis
Early autism diagnosis is essential because it allows for timely interventions during key developmental stages, leading to significant improvements in social communication,
language, and adaptive skills. Early support helps children build independence and enhances their long-term quality of life. It also empowers families by providing
access to specialized therapies, educational resources, and community support, reducing uncertainty and stress while fostering a more inclusive and supportive environment
(Okoye et al., 2023).
However, early diagnosis also comes with challenges (Okoye et al., 2023): labeling and stigma can affect a child’s self-esteem and social interactions, while the risk of misdiagnosis or
overdiagnosis may lead to unnecessary interventions, adding emotional and financial stress. The diagnostic process is also complex and lengthy, which can be overwhelming
for both children and families. Despite these challenges, the benefits of early identification overwhelmingly support improved developmental outcomes and better long-term
support for autistic individuals and their families.
According to recent studies, the average age of autism diagnosis is approximately 60.5 months, with a range from 30.9 to 234.6 months. However, in studies that focused solely on
children aged 10 years or younger, the mean age of diagnosis is lower, around 43.2 months (van’t Hof et al., 2020).
With growing awareness of autism in both society and the scientific community, along with expanded diagnostic criteria, some individuals are receiving their first autism diagnosis
in adulthood (Yu et al., 2024). This group, often referred to as the "lost generation" (Lai & Baron-Cohen, 2015), was either undiagnosed or misdiagnosed during childhood.
Indeed, diagnosing autism in adults presents unique challenges due to incomplete developmental histories, masking of traits, and co-occurring psychiatric conditions that
may obscure autistic characteristics (Lai & Baron-Cohen, 2015).
2.2 Diagnosis and evaluation process.
The process of diagnosing autism involves multiple stages, each designed to gather comprehensive information about the individual's developmental history, behaviors, and
abilities. This process typically starts with early signs recognized by parents or caregivers, followed by professional screenings and ultimately a multidisciplinary
assessment. The goal is to ensure that all aspects of autism are considered and that the diagnosis is accurate, leading to effective intervention strategies.
Diagnosis and evaluation process.
The journey to a formal autism diagnosis begins with subtle early warning signs noted by parents or caregivers, followed by professional screenings. These screenings
involve a series of behavioral evaluations and developmental monitoring, culminating in a comprehensive assessment by a multidisciplinary team. This team approach is
critical given the diverse manifestations of autism and its potential overlap with other developmental disorders.
The diagnostic process includes gathering detailed developmental histories from parents and conducting behavioral observations by specialists in developmental disorders,
potentially supplemented by neurological examinations if sensorimotor abnormalities are present. The team typically comprises developmental pediatricians, child
neurologists, psychologists, psychiatrists and speech and language therapists, each providing insights that contribute to a holistic understanding of the child's
developmental issues (Baird et al., 2003).
This comprehensive evaluation is based on standardized measures, designed to provide a comprehensive understanding of an individual’s developmental profile.
Among the most widely used are the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) and the Autism Diagnostic Interview-Revised (ADI-R). The ADOS-2 employs
structured and semi-structured tasks to evaluate social communication and restricted or repetitive behaviors, while the ADI-R is a structured caregiver interview that
captures developmental history and autism-specific behaviors across different contexts (Lord et al., 2012; Hirota & King, 2023).
Additional assessment tools further refine diagnostic accuracy and help differentiate autism from other developmental conditions. The Childhood Autism Rating Scale (CARS) is particularly
useful in gauging autism severity by evaluating key behavioral domains, such as social interactions, adaptability, sensory responses, and communication patterns
(Baird et al., 2003). Furthermore, assessments of sensory processing and motor function are critical, as atypical sensory sensitivities and motor coordination
difficulties are common in autism. Evaluating responses to sensory stimuli, such as sound and touch, alongside motor skills like balance and coordination, offers
valuable insights into how these factors impact daily functioning and social engagement (Okoye et al., 2023).
Each tool and scale provides valuable insights that guide clinicians not only in making a diagnosis but also in tailoring intervention strategies. This comprehensive assessment
ensures that all aspects of the individual's condition are considered, facilitating a more effective management plan tailored to their specific needs.
Advances in Genetic Testing and Biomarkers for Autism Diagnosis
Autism diagnosis is evolving with advances in clinical genetic testing, which can help identify genetic causes of autism, guide treatment, and predict recurrence risks in families.
Genetic testing plays a crucial role in early diagnosis, treatment planning, and genetic counseling, with recent research revealing high genetic heterogeneity in autism
(Han et al., 2022; Trost et al., 2022). Large-scale genetic data, including next-generation sequencing and machine learning, is advancing the understanding of how
genetic variations influence brain development and function.
For genetic diagnosis, practices such as microarray detection of copy number variations (CNVs), whole-exome sequencing (WES), and whole-genome sequencing (WGS) are employed.
Additionally, technologies like transcriptomics and epigenomics are enhancing our understanding of the molecular mechanisms underlying autism. Non-invasive prenatal
testing (NIPT) has emerged as a key tool for detecting genetic disorders early, using maternal plasma fetal cell-free DNA (cfDNA) (Myers & Johnson, 2007). Early diagnosis
is essential for accessing intervention services that can reduce symptoms and improve personal and social functioning.
In addition to genetic testing, biomarkers like microRNAs (miRNAs) have shown potential for autism diagnosis and prognosis. Altered miRNA expression in the brain, blood,
and saliva of autism patients provides insights into the molecular mechanisms of the disorder (Hicks & Middleton, 2016). For instance, miRNAs like miR-146 and miR-153
have been identified as promising autism biomarkers (Nguyen et al., 2018; You et al., 2019). These miRNAs target genes crucial for neuronal development, further supporting
their role in autism pathophysiology (Vasu et al., 2019).
Recent studies have also explored umbilical cord blood for early autism detection. Differential gene expression in cord blood from children later diagnosed with autism suggests
that neonatal transcript markers could serve as potential early diagnostic tools. Additionally, sperm chimera analysis has revealed that de novo mutations in male sperm
are linked to an increased risk of autism in offspring. This discovery could lead to novel autism risk prediction methods, offering more accurate assessments based on
paternal genetic contributions (Breuss et al., 2020; Kong et al., 2012; Rahbari et al., 2016).
Future Directions
Despite its rising prevalence, autism remains a complex public health challenge with no specific diagnostic markers, complicating efforts to develop targeted therapeutic
strategies (Hodges et al., 2020). Current treatments primarily focus on behavioral and educational interventions to enhance social communication and reduce restrictive
and repetitive behaviors, while pharmacological approaches address co-occurring conditions such as anxiety and attention deficits rather than core autism symptoms (Lai
et al., 2014).
Looking ahead, autism research is shifting toward a more integrated approach that combines genetic, environmental, and neurobiological perspectives. This multidisciplinary
framework is essential for advancing precision medicine, enabling tailored interventions based on individual genetic and environmental profiles. Additionally, public
health efforts must prioritize improving diagnostic accuracy and expanding access to therapeutic services, particularly in underserved regions. As research progresses,
these advancements hold the potential to refine treatment strategies, enhance quality of life for autistic individuals, and mitigate the broader impact of autism on
families and society (Wang et al., 2023).
3. Myths and Realities
This chapter addresses common misconceptions about autism and provides an updated understanding based on scientific evidence:
1. Debunking Common Myths – Challenging widespread misunderstandings, such as the idea that all autistic individuals lack empathy, that autism is caused by poor parenting or vaccines, or that it can be "cured."
2. Current Perspectives on Autism – Exploring modern views that emphasize autism as a natural variation in neurology rather than a disorder to be "fixed," highlighting neurodiversity, inclusion, and the importance of individualized support.
This chapter reinforces the importance of relying on research-based information to foster a more accurate and respectful understanding of autism.
3.1 Debunking common myths about autism.
Autism is often misunderstood, surrounded by numerous myths that significantly affect public perception and the approach to treatment.
Parenting
One widespread myth is that autism results from poor parenting, specifically cold or distant parental behavior. This belief has been scientifically
disproven; autism is a neurodevelopmental disorder with biological underpinnings, not caused by parenting styles.
Abilities
Another myth suggests that all individuals with autism are either savants or possess extraordinary abilities in specific areas such as mathematics,
music, or memory. While it is true that some individuals with autism may display remarkable skills, these characteristics are not universal across the spectrum.
It is important to understand and appreciate the diversity within the spectrum of autism, which ranges widely in how it affects individuals' abilities and behaviors
(Gabis et al., 2022).
Social interaction
Another common misconception is that people with autism do not wish to form social connections or are incapable of emotional expression. In reality, many individuals
with autism desire social interaction but may express and experience it differently. Misinterpretations of their social and emotional capacities can lead to significant
stigma and barriers to social integration (Tonge & Brereton, 2022).
Autism and vaccines
The myth linking autism to vaccinations, particularly the MMR vaccine, has been one of the most damaging public health myths in recent history. The MMR vaccine, which protects
against measles, mumps, and rubella—three highly infectious viral diseases—has been falsely accused of causing autism. This belief originated from a 1998 study by British
physician Andrew Wakefield and 11 co-authors, published in the medical journal The Lancet. The study has since been thoroughly discredited, with extensive research across
various populations and scientific reviews debunking its claims. The Lancet later retracted the article, recognizing its fundamental flaws and ethical concerns.Despite clear
evidence refuting any link, the persistence of this myth has led to outbreaks of previously controlled diseases due to vaccine hesitancy. Public health officials and medical
communities continue to combat this misinformation by promoting the benefits of vaccines and the risks associated with not vaccinating children. The myth undermines trust in
medical interventions and hampers the efforts to maintain public health safety (Gabis et al., 2022).
Autism in girls
Lastly, another widespread myth is that autism is very rare in girls. While autism is diagnosed in boys about 4.2 times more often than in girls, it is still relatively common among
females. This discrepancy is partly due to the fact that girls with autism are more likely to be misdiagnosed or overlooked, as they tend to mask their symptoms more
effectively than boys. Additionally, traditional diagnostic criteria have historically been based on male presentations of autism, reinforcing the misconception that
autism is primarily a male condition.
Cure
Autism is a lifelong neurodevelopmental condition, not an illness, meaning it cannot be cured. However, effective, evidence-based interventions can help autistic individuals
of all ages develop skills, adapt, and gain greater independence. With the right support, both children and adults can continue to grow, navigate challenges, and lead
fulfilling lives.
3.2 Current perspectives on autism.
Modern understanding of autism recognizes it as a complex disorder influenced by genetic and environmental factors. Research has advanced from
viewing autism through a purely psychological framework to a broader neurobiological perspective that seeks to understand the genetic,
environmental, and neurological factors involved. Current research focuses on identifying biomarkers, understanding neurodevelopmental pathways,
and developing targeted therapies that can address specific symptoms and challenges associated with autism.
The concept of autism as a spectrum has been pivotal in shifting the diagnostic and therapeutic approaches, allowing for more personalized and effective
interventions. This spectrum framework acknowledges the wide variability in how autism manifests, challenging the one-size-fits-all approach and highlighting the
need for tailored educational and behavioral interventions. Additionally, there is an increasing focus on early diagnosis and intervention, which have been shown
to significantly improve outcomes for children with autism. Early and accurate diagnosis enables timely access to interventions that can improve communication,
social skills, and overall adaptive functioning (Tonge & Brereton, 2022).
Currently, two emerging paradigms are reshaping how autism is understood: evolutionary psychiatry and the neurodiversity movement. Both challenge the traditional view of
autism as a disorder and instead recognize it as a natural variation of human cognition. They expand the definition of what is considered "normal," emphasize individual
strengths, and advocate for support and inclusion rather than treatment. Evolutionary psychiatry approaches autism from a scientific perspective, exploring its evolutionary
roots, while the neurodiversity movement focuses on social change and reducing barriers to participation. Together, these perspectives represent a shift away from a purely
medical model, promoting a more inclusive and nuanced understanding of autism (Hunt & Procyshyn, 2024).
4. Impact of autism in individuals and their families.
This chapter explores the multifaceted impact of autism across different life stages, highlighting both strengths and challenges.
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Early Childhood: Discusses early developmental traits, unique abilities, and potential difficulties in communication, sensory processing, and social interaction.
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Adolescence: Examines the evolving social, emotional, and educational needs, along with strengths such as deep focus and unique problem-solving skills.
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Adulthood: Addresses independence, employment, relationships, and the diverse abilities that contribute to personal and professional success.
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Family Impact: Explores the experiences of caregivers and family members, emphasizing both the challenges they face and the strengths that emerge from supporting an autistic loved one.
4.1 Impact of autism in early childhood: strengths and challenges.
Early childhood is a critical period in the development of children with autism, as this is when unique strengths and challenges become increasingly apparent. The way autism manifests in early
childhood can significantly shape the individual’s developmental trajectory, affecting social, emotional, cognitive, and sensory experiences. While some autistic children
may demonstrate exceptional abilities and interests, they may also face considerable difficulties in social interactions and communication, which can create challenges for
them and their families. As children with autism transition into adolescence and adulthood, these strengths and challenges evolve, often leading to different experiences as
they navigate school, work, and social environments.
Strengths in Early Childhood
In early childhood, many autistic children exhibit remarkable abilities that set them apart in specific domains (Han et al., 2022). These strengths often become apparent
through the following traits:
1. Exceptional Memory: Many autistic children demonstrate extraordinary memory abilities, particularly in areas like rote learning and factual
recall. This can manifest as an ability to remember details or facts that others may overlook. These memory skills can be an asset in academic
settings, where retaining information can lead to high performance in subjects that involve structured learning or factual knowledge
(Han et al., 2022).
2. Specialized Interests: Autistic children often develop intense, specialized interests in certain topics, objects, or activities. These focused
interests can become areas of deep expertise, with children absorbing vast amounts of knowledge in a relatively short time. For instance, a child might
develop an exceptional understanding of dinosaurs, trains, or outer space. These interests not only provide opportunities for learning and mastery but
can also be a source of comfort and stability in an otherwise overwhelming world.
Challenges in Early Childhood
While the strengths mentioned above are significant, children with autism also face various challenges that can hinder their ability to thrive in typical
developmental contexts (Han et al., 2022).
1. Social Interaction Difficulties: One of the hallmark features of autism is difficulty in forming social relationships. In early childhood, this manifests as challenges .
in engaging with peers, understanding social cues, and responding appropriately in social situations. Children with autism may struggle to initiate and maintain
conversations, which can lead to feelings of isolation or frustration. This can be particularly evident in group settings such as preschool, where social interaction
is a central component of the learning environment.
2. Communication Challenges: Both verbal and non-verbal communication difficulties are common in young children with autism. Some children may be non-verbal or
have limited speech, while others may speak fluently but struggle with the social aspects of communication, such as turn-taking in conversations or understanding
figurative language. Non-verbal communication, such as facial expressions, body language, and gestures, can also pose challenges, making it harder for children to
express their needs or understand those of others.
3. Sensory Sensitivities: Sensory processing issues are prevalent in children with autism and can significantly affect their daily experiences. Many children are
hypersensitive to sensory stimuli, such as loud noises, bright lights, or certain textures, which can lead to sensory overload. Everyday environments like playgrounds,
classrooms, or even family gatherings can become overwhelming, causing distress, anxiety, or meltdowns. The challenges of sensory sensitivities can make it difficult
for children with autism to fully engage in typical childhood experiences.
4. Emotional Regulation: Autistic children may experience challenges in regulating their emotions. They might become easily frustrated or overwhelmed in situations that others
would find manageable. This emotional dysregulation can lead to outbursts, tantrums, or withdrawal, especially when faced with changes in routine, transitions, or unexpected
events. The inability to express or manage emotions effectively can lead to further difficulties in social interactions, making it harder for children with autism to form
positive relationships with others.
4.2 Impact of autism in adolescence: strengths and challenges.
Adolescence is a transformative period for all individuals, but for autistic adolescents, it often brings unique complexities. As they navigate increasing academic
demands, social expectations, and emotional development, their experiences can vary significantly depending on cognitive abilities, support systems, and individual
traits. While some autistic adolescents demonstrate strengths in specific fields and structured environments, others may face additional challenges, including
intellectual disability, difficulties with executive functioning, and co-occurring mental health conditions. It is essential to recognize that not all autistic
individuals have exceptional abilities, and each adolescent’s experience is shaped by a diverse range of factors.
Strengths in Adolescence
For some autistic adolescents, structured academic environments provide an opportunity to thrive. The ability to focus intensely on specific subjects, follow routines,
and engage deeply in areas of interest can lead to notable achievements, particularly in the following domains (Cidav et al., 2012):
1. Proficiency in Structured Tasks and Subjects
Many autistic adolescents excel in subjects that follow logical patterns and structured rules, such as
mathematics, science, engineering, or computer programming. Their ability to recognize patterns, analyze data, and approach problems with a logical mindset can make
them strong performers in STEM-related fields.
2. Innovative Thinking and Attention to Detail
Autistic individuals often process information in unique ways, leading to creative problem-solving and innovative ideas.
This can be particularly valuable in areas that require systematic thinking, such as scientific research, music composition, coding, or technical design. Their attention to
detail can also be a major asset, allowing them to notice inconsistencies or errors that others may overlook.
3. Commitment to Interests and Routines
Many autistic adolescents develop deep knowledge and expertise in specialized interests. While these focused passions may be
seen as restrictive from a neurotypical perspective, they can lead to academic success, career opportunities, or personal fulfillment. Additionally, a strong preference for
routine and consistency can help maintain productivity and organization, particularly in structured environments.
4. Honesty and Direct Communication
Some autistic adolescents demonstrate a strong sense of integrity, honesty, and direct communication. While social nuances
may be challenging, their straightforwardness can be refreshing in academic and professional settings where clarity is valued.
Challenges in Adolescence
While adolescence can bring growth and opportunities, it is also a period of increasing challenges for autistic individuals. Social expectations become more complex, academic
and executive functioning demands rise, and co-occurring conditions such as anxiety and depression may emerge or worsen. Some autistic adolescents also have intellectual
disabilities, which can further impact learning, independence, and daily functioning (Cidav et al., 2012).
1. Social Communication Difficulties and Increased Awareness
As they enter adolescence, many autistic individuals become more aware of their social differences,
leading to frustration, loneliness, or feelings of exclusion. While some autistic adolescents may not seek social interaction, others do—but may struggle to navigate complex
social rules, unspoken expectations, and peer dynamics. This discrepancy between social desire and social ability can contribute to significant distress and negatively impact
mental health and self-esteem.
2. Heightened Anxiety and Depression
Adolescence is a period of increased emotional complexity, and autistic individuals are at a higher risk for anxiety, depression,
and other mood disorders. Social rejection, academic pressures, sensory overload, and difficulty coping with change can all contribute to emotional distress. Many autistic
adolescents experience meltdowns or shutdowns as a result of overwhelming stressors, particularly in environments that do not accommodate their needs.
3. Difficulties with Executive Functioning
Executive functioning refers to skills such as planning, organization, time management, and impulse control—areas that can
be particularly challenging for autistic adolescents. School demands often increase during this stage, requiring students to juggle multiple assignments, manage deadlines, and
transition between tasks efficiently. Without proper support, executive functioning difficulties can lead to academic struggles, frustration, and low self-confidence.
4. Sensory Sensitivities in New Environments
The sensory challenges present in early childhood often persist into adolescence, but new settings—such as high school,
public transportation, and social gatherings—introduce additional stressors. Bright lights, loud noises, crowded spaces, and unpredictable social interactions can be overwhelming,
making it difficult for autistic adolescents to fully engage in school, extracurricular activities, or social events.
5. Bullying and Social Exclusion
Studies indicate that autistic adolescents are at a higher risk of bullying, social exclusion, and victimization in school settings.
Their differences in communication, sensory preferences, and behaviors can make them targets for teasing or isolation. This not only affects mental health but can also discourage
social participation, leading to withdrawal and reduced opportunities for connection.
6. Transitioning to Independence
As adolescents grow older, expectations for independence increase. This can be particularly challenging for autistic individuals,
especially those with intellectual disabilities or difficulties with life skills. Tasks such as self-care, money management, transportation, and decision-making may require
additional support and accommodations.
4.3 Impact of autism in adult life: strengths and challenges.
Autistic adults experience a wide range of strengths and challenges, influenced by factors such as cognitive abilities, access to support, sensory
sensitivities, and societal accommodations. While some thrive in highly structured environments and specialized fields, others struggle with workplace
expectations, social relationships, and independent living skills. Additionally, the high prevalence of co-occurring conditions—such as anxiety,
depression, and executive functioning difficulties—can further impact daily life (Gates et al., 2023).
Strengths in Adulthood
1. Success in Specialized and Detail-Oriented Careers
Some autistic adults find fulfillment in careers that require precision, deep focus, and structured problem-solving,
such as Information Technology (IT), graphic design, and research. Their preference for structure, predictability, and routine makes them reliable employees who follow procedures
meticulously, maintain a strong work ethic, and remain consistent in long-term projects. In the right setting, these strengths allow autistic adults to excel in roles that require
precision and consistency.
2. Deep Knowledge and Specialized Interests
Autistic individuals often develop a profound expertise in specific topics due to their intense focus and ability to
retain detailed information. When supported, these interests can enhance self-esteem, career opportunities, and lifelong learning.
3. Strong Memory, Attention to Detail, and Innovative Problem-Solving
Autistic adults often possess a unique ability to concentrate intensely on complex tasks, using
logical, analytical thinking to make significant contributions in their chosen fields. Their strong memory, particularly for facts, dates, patterns, and structured information,
allows them to excel in professions that demand accuracy, consistency, and an eye for detail. Additionally, their innovative problem-solving skills and systematic thinking enable
them to approach challenges from unique angles, leading to creative solutions in fields like science, technology, and engineering. Their ability to detect patterns makes them
particularly valuable in complex problem-solving tasks.
Challenges in Adulthood
1. Employment Barriers and Workplace Challenges:
Although autistic adults may excel professionally, they often struggle with social and executive demands at work.
Challenges include understanding unwritten workplace norms, adapting to change, sensory issues, and difficulties with job interviews that focus on social skills. As a result,
many face high unemployment and underemployment, despite being qualified. Workplace accommodations, like clear communication and remote work, can improve job retention and
satisfaction.
2. Social and Relationship Challenges:
Autistic adults often face difficulties with small talk, interpreting nonverbal cues, and emotional reciprocity, leading to
isolation and anxiety. While some prefer solitude, others seek meaningful connections but struggle with navigating social complexities. Romantic relationships can be challenging
due to differences in emotional expression, sensory sensitivities, and communication styles, but relationships based on understanding and direct communication can be fulfilling.
3. Executive Functioning and Independent Living:
Many autistic adults struggle with executive functioning, affecting time management, task organization, and finances.
While some live independently, others need support for daily life. Tools like reminders can help, but external support may still be needed.
4. Mental Health Challenges:
Higher rates of anxiety, depression, and burnout are common among autistic adults, often due to masking, social rejection, and sensory
overload. "Autistic burnout" is a result of prolonged efforts to adapt to a neurotypical world. Autism-informed mental health care is essential but often lacking.
5. Limited Support Services for Adults:
Support for autistic adults is limited, with gaps in employment programs, social skills training, and autism-informed healthcare.
This lack of resources contributes to high unemployment, housing insecurity, and mental health challenges.
6. Healthcare Disparities and Medical Challenges:
Autistic adults face barriers in healthcare, including sensory difficulties in medical settings, misdiagnosis,
and higher rates of co-occurring conditions. Advocating for medical needs is often difficult, leading to untreated health issues. Autism-informed healthcare professionals
and sensory-friendly environments can significantly improve their experiences.
Accommodations like flexible work schedules, clear communication, sensory-friendly environments, accessible mental health services tailored to
autistic needs, and autism-aware healthcare providers are essential for improving the quality of life for autistic adults. Additionally, social and
community programs that encourage neurodivergent-friendly interactions, along with housing and independent living support, can help those needing
assistance with daily tasks. The efforts of self-advocacy and neurodiversity movements have been crucial in promoting acceptance, advocating for policy
changes, and fostering workplace inclusivity, enabling autistic adults to thrive without the pressure to mask their true selves.
4.4 Impact and challenges for families: strengths and challenges.
Impact and Challenges for Families: Strengths and Difficulties
Raising a child with autism presents both profound challenges and unique strengths for families. While many families develop remarkable resilience and advocacy
skills, the emotional, psychological, and financial toll can be substantial. However, addressing these challenges requires a more holistic approach to
interventions that consider both the well-being of the child and the family as a whole (Cidav et al., 2012).
Strengths
1. Resilience and adaptability
Families with autistic members often cultivate remarkable resilience and adaptability. The need to advocate for
their loved ones fosters a deep understanding of educational and healthcare systems, enabling them to become effective navigators of often complex bureaucracies.
This journey frequently strengthens family bonds, fostering a profound sense of unity, advocacy, and mutual support
2. Personal Growth and Emotional Strength
Evidence of family resilience includes strong connectedness, a deeper appreciation of life, and the ability to
derive positive meaning from the challenges associated with autism. Many families report that raising an autistic child leads to increased empathy, patience, and a
broader perspective on human diversity. They may develop stronger problem-solving skills, greater tolerance, and an enhanced ability to mobilize resources in times of need.
Spiritual and personal growth are also frequently cited, as families seek meaning and support in their personal beliefs and community networks.
3. Advocacy and Community Impact
Many parents and caregivers find themselves becoming skilled advocates, not only for their own children but also within the larger
autism community. Through this advocacy, families can experience a sense of empowerment and fulfillment, knowing that their efforts contribute to broader systemic improvements
in inclusion, acceptance, and accessibility.
Challenges
1. Financial Strain and Economic Challenges
The financial burden on families with autistic children is often considerable. The high cost of therapeutic
interventions, including behavioral therapy, speech and occupational therapy, and specialized education, can create significant financial strain. For many families,
this means that one parent may need to reduce work hours or leave their job altogether to provide the necessary care, which can exacerbate economic difficulties.
This financial challenge is made even more difficult by the variability in insurance coverage for autism-related therapies, with many families struggling to afford
the services their children need. The economic pressures are compounded by a lack of consistent support or resources, leaving families to manage these substantial costs
largely on their own.
2. Emotional and Psychological Impact on Caregivers
Caring for a child with autism can take a significant psychological and emotional toll on parents and caregivers.
Research has shown that parents of autistic children report higher levels of stress, anxiety, and depression compared to parents of typically developing children or those with
other developmental disorders (Rezendes & Scarpa, 2011). The demands of caregiving, including decreased parenting efficacy, chronic exhaustion, and increased mental and physical
health issues, are common. The constant stress of caregiving, paired with the isolation that many parents experience, can further amplify feelings of burnout. Without sufficient
respite or support, these emotional and health challenges can become overwhelming, negatively impacting the well-being of caregivers.
3. Siblings' Experiences and Family Strain
Siblings of children with autism often face unique emotional and psychological challenges. Due to the amount of attention
that the autistic sibling requires, these siblings may feel neglected or overlooked. They may also take on caregiving responsibilities from a young age, which can influence their
emotional development. Feelings of resentment, guilt, or the pressure to mature quickly are not uncommon. Additionally, families with autistic children often experience higher
rates of marital strain and divorce, reflecting the immense strain that caregiving can place on family dynamics. This highlights the critical need for comprehensive family support
services that address the needs of all family members, not just the child with autism.
Summary of the module
Introduction to Autism
The module provides an in-depth exploration of autism , a neurodevelopmental condition characterized by challenges in social interaction,
communication, and repetitive behavior patterns. It emphasizes the diversity within the spectrum, acknowledging that autism presents differently across individuals,
with varying levels of intellectual and functional abilities.
Evolution of the Concept of Autism
The historical context of autism diagnosis is examined, from the early days when it was often confused with schizophrenia, to
modern classifications in DSM-5 and ICD-11. These frameworks recognize autism as a spectrum disorder with a range of severity, providing clinicians with guidelines for
diagnosis and intervention.
Symptoms and Diagnosis
Key symptoms of autism include deficits in social interaction, verbal and non-verbal communication, and repetitive behaviors. The module details
important diagnostic tools like the Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R), which help in identifying autism across
different age groups and severities.
Early Detection and Intervention
The importance of early detection is highlighted, with a focus on the long-term benefits of early intervention. Behavioral and
developmental therapies, when applied early, have been shown to improve communication, social skills, and daily functioning in children with autism.
Multidisciplinary Approach
The module stresses the need for a multidisciplinary approach to supporting individuals with autism, involving educators, therapists,
psychologists, and medical professionals. Collaboration across these fields ensures comprehensive care throughout the individual’s life, from childhood to adulthood.
Translational Neuroscience
A significant section is dedicated to translational neuroscience, which bridges research and clinical practice. This field helps in
understanding the neurobiological and genetic underpinnings of autism, paving the way for personalized interventions and potential breakthroughs in treatment strategies.
Lifelong Support and Therapeutic Strategies
Lifelong support is essential for individuals with autism, as challenges persist throughout adulthood. The module
emphasizes evidence-based therapeutic strategies that can be adapted over time to meet changing needs in areas such as social interaction, employment, and independent
living.
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Glossary of terms
1. ADHD (Attention-Deficit Hyperactivity Disorder): A condition characterized by difficulties with attention, impulsivity, and hyperactivity, which commonly co-occurs with autism but presents differently in autistic individuals.
2. ADI-R (Autism Diagnostic Interview-Revised): A structured interview conducted with caregivers to gather detailed developmental history and autism-specific behaviors.
3. ADOS-2 (Autism Diagnostic Observation Schedule-Second Edition): A standardized tool used by clinicians to assess social communication skills and repetitive behaviors in individuals suspected of having autism.
4. Asperger's Syndrome: A condition previously recognized as a distinct form of autism, characterized by difficulties in social interactions and restrictive interests, but with normal or above-average intellectual and language development. It was subsumed into Autism Spectrum Disorder in the DSM-5.
5. Autism Prevalence: The proportion of individuals within a population diagnosed with autism. Prevalence has increased globally due to factors like improved awareness and diagnostic criteria, with current estimates suggesting about 1 in 100 children are diagnosed.
6. Biomarkers: Biological indicators, including microRNAs and umbilical cord blood markers, that may aid in the early detection and understanding of autism.
7. Camouflaging/Masking: The conscious or unconscious effort by autistic individuals, particularly females, to mimic neurotypical social behaviors to fit in, often leading to delayed diagnosis and mental health challenges.
8. Co-occurring Conditions: Additional medical or psychological conditions that often occur alongside autism, such as ADHD, epilepsy, anxiety disorders, sleep disturbances, and gastrointestinal issues.
9. Communication Deficits: Difficulties in both verbal and non-verbal communication. These can include delayed speech development, echolalia, or a complete absence of spoken language. Non-verbal challenges include struggles with using and interpreting gestures, facial expressions, and body language.
10. Diagnostic Classification: A system used to categorize individuals with autism based on the level of support they require in their daily lives.
11. Early Diagnosis: The process of identifying autism in young children, typically before the age of three, to facilitate timely interventions and improve developmental outcomes.
12. Executive Functioning: Cognitive processes involved in planning, organization, impulse control, and flexible thinking, often impaired in autistic individuals.
13. Genetic Testing: Techniques such as whole-genome sequencing and microarray analysis used to identify genetic variations associated with autism.
14. Genomic Sequencing: A method for determining the complete DNA sequence of an individual's genome. In autism research, genomic sequencing is used to identify genetic mutations and variations associated with the condition.
15. Intellectual Disability (ID): A condition characterized by significant cognitive impairments, co-occurring with autism in about 70% of cases, though intelligence profiles vary widely.
16. M-CHAT (Modified Checklist for Autism in Toddlers): A screening tool used to detect early signs of autism in children aged 16 to 30 months.
17. Neurodivergence: A concept framing autism as a natural variation in cognitive functioning rather than a disorder, promoting acceptance and inclusion.
18. Neurodiversity Movement: A social and advocacy movement that promotes the view that autism is a natural variation of human neurology rather than a disorder to be “cured.” It emphasizes inclusion, self-determination, and respect for different ways of thinking and experiencing the world.
19. Neuroimaging: The use of imaging techniques (e.g., MRI, PET scans) to study brain structure and function. In autism research, neuroimaging is used to identify structural and functional differences in the brains of individuals with autism.
20. Obsessive-Compulsive Disorder (OCD): A condition involving intrusive thoughts and repetitive behaviors, frequently co-occurring with autism and sometimes difficult to differentiate from autistic routines.
21. Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS): A diagnostic category in the DSM-IV for individuals exhibiting some, but not all, symptoms of autism. It was merged into the broader category of Autism Spectrum Disorder in the DSM-5.
22. Repetitive Behaviors: Behaviors that are stereotyped and restrictive, such as hand-flapping, rocking, or a strong preference for routines. These behaviors provide a sense of order and predictability, often acting as coping mechanisms for anxiety or excitement.
23. Rett Syndrome: A rare developmental disorder that primarily affects girls, characterized by a period of typical development followed by regression in motor and speech skills, as well as loss of purposeful hand movements. Initially considered part of the autism spectrum, it is now classified separately.
24. Sensory Sensitivities: Heightened or diminished responses to sensory stimuli like sounds, lights, textures, and tastes. Individuals with autism may experience discomfort or indifference to sensory inputs, which can impact daily life and may require accommodations.
25. Social Interaction Difficulties: Challenges in understanding emotions, recognizing intentions, and engaging in reciprocal communication. These issues often result in social misunderstandings or isolation.
26. Synaptic Signaling: The process by which neurons communicate with each other through synapses. Abnormalities in synaptic signaling have been linked to autism, particularly in brain areas involved in social cognition and sensory processing.
27. Teratogenic Factors: Environmental factors that can cause developmental disruptions in a fetus, potentially leading to conditions like autism. These may include maternal infections, medications, or exposure to toxins during pregnancy.
28. Theory of Mind (ToM): The ability to recognize and interpret another person’s thoughts, feelings, beliefs, and intentions. It is often used to understand difficulties in social interactions for individuals with autism.
29. Translational Neuroscience: A field that connects scientific research with clinical practice to advance autism understanding and treatment through genetic, neurobiological, and environmental insights.
30. Underdiagnosis in Girls: The tendency for girls with autism to be diagnosed later or misdiagnosed due to their ability to mask symptoms and the historically male-focused diagnostic criteria.