As physicians and researchers continue to refine their understanding of autism spectrum disorder (ASD), increasing evidence is shedding light on the distinct manifestation of autism symptoms in women.1 Because of the historical emphasis on the stereotypical presentation of ASD among boys and men, women with ASD have often been overlooked or misdiagnosed due to the unique behavioral patterns and challenges faced by women with ASD.
This has contributed to the development of a sex and gender bias in which neurodevelopmental conditions are diagnosed at a significantly higher rate for boys/men compared to girls/women. In particular, ASD has a 1% prevalence in children with a 3:1 boy-to-girl ratio.1
Correspondingly, women with ASD may not receive an official diagnosis until later in adulthood. Failure to recognize ASD in girls/women at an early age may lead to underdiagnosis or misdiagnosis with other mental health conditions, greatly impacting their mental health, social functioning, and quality of life — compounded by an increased risk of developing comorbid eating disorders, sleep disorders, neurological conditions, and/or psychiatric conditions.2,3
Given the adverse outcomes associated with the under-recognition of ASD symptoms, understanding the presentation of autism symptoms in women can help equip physicians with the knowledge needed to better identify and support women with ASD to improve their quality of life.
What Are the Diagnostic Criteria for Autism?
According to the Diagnostic and Statistical Manual, Fifth Edition (DSM-5), the diagnostic criteria for ASD must include persistent deficits observed in each of the following 3 domains of social communication and interaction:4
Social-emotional reciprocity
Nonverbal communication used for social interactions (ie, lack of facial expressions, lack of nonverbal communication, or abnormalities in eye contact, body language, and use/understanding of gestures)
Relationship development, understanding, and maintenance
In addition to these social and communication deficits, individuals must have a history or current presentation of at least 2 of the 4 types of restricted, repetitive behaviors:4
Stereotyped or repetitive movements, speech, or use of objects
Adherence to inflexible routines, insistence on sameness, or ritualistic patterns of behavior (either verbal or nonverbal)
Restrictive fixations or interests with abnormal intensity or focus
Either hypo- or hyperreactivity to sensory input or atypical interest in sensory aspects of an environment
These 7 diagnostic criteria for ASD are graded on a severity scale by the level of support needed, in which Level 1 requires support, Level 2 requires substantial support, and Level 3 requires very substantial support.4
Gender Differences in Autism Symptom Presentation, Comorbid Conditions
Although the DSM-5 has standardized the diagnostic criteria for ASD, women often elude official diagnosis at an earlier age because their initial symptoms manifest differently, relative to men.
Psychiatry Advisor spoke with Tatiana Rivera Cruz, LICSW, a licensed clinical social worker and therapist, who shared her expertise and insights about these sex- and gender-related differences among individuals with ASD.
She stated, “Boys often [are] diagnosed early on, around 2.5 to 3 years [of age], because the symptoms of autism [are] extremely noticeable and very intense — in particular, extreme, repetitive, behavioral patterns (like hand shaking or repeating certain words) or absence of sensory skills or specific sensory preferences.”
Conversely, she explained that “With girls, the symptoms of autism are muted and not as noticeable. Often times, the symptoms of autism that manifest in women are confused with ADHD, depression, anxiety, or social anxiety.” These misdiagnoses can have a major effect on individuals, as Ms Cruz highlights when discussing her encounter with a patient.
I treated a [woman] who was diagnosed with autism much later in life. The [woman] mentioned that she couldn’t understand what was happening to her because she felt that she couldn’t be social with people or communicate well. She didn’t understand social cues. She didn’t get sarcasm. She didn’t get jokes. She believed it was social anxiety because being around people understandably gave her anxiety since she couldn’t understand them and felt like she didn’t fit in.
When we evaluated her, she met all the criteria for an autism diagnosis — yet for years she received psychotherapy treatments for depression, anxiety, and social anxiety. These treatments weren’t really addressing the underlying problem, rather they were just managing secondary symptoms that developed due to autism.
Aligned with Ms Cruz’s observations, research indicates that boys with ASD exhibit more pronounced restricted, repetitive behaviors compared with girls, promoting earlier recognition and diagnosis by clinicians.1,5 Girls, on the other hand, demonstrate greater social communication skills, prelinguistic and linguistic functioning, autobiographical memory, and cognitive flexibility than boys with ASD.1
Studies also indicate that women with ASD are more likely to be diagnosed with comorbid cardiovascular, endocrine, gastrointestinal, nutrition, and psychiatric disorders, relative to men with ASD.3
Researchers have theorized that differences in sex hormones during the prenatal period affect brain anatomy, function, and gene expression. These sex-based differences in brain development may in turn contribute to the different manifestations that are observed in ASD, like the ability of women with ASD to more frequently and successfully mask or camouflage their symptoms of ASD due to their heightened skills of observation, analysis, imitation, and communication.1
"
[P]hysicians should consider careful ASD screening assessments that account for autism symptoms in women, instead of relying on the more pronounced manifestations that are commonly associated with boys/men.
Societal Factors Influencing Autism Diagnoses in Women
In addition to the differences in symptom presentation and comorbid conditions observed between girls/women and boys/men, delayed diagnosis of ASD in women may be due to societal factors, including clinician bias, parental education, and compensatory behaviors exhibited by girls/women with ASD.
Clinician Bias
According to qualitative research studies, women diagnosed with ASD in adulthood reported that healthcare providers often dismissed their symptoms and lacked awareness of the differences in ASD symptom manifestation among women, leading to delayed diagnoses.6
A systematic review published in 2021 confirmed these self-reported concerns, as investigators found that clinician bias was a barrier to early ASD diagnosis among women. Parents of girls with ASD perceived a hesitancy or reluctance among clinicians to diagnose girls with ASD, and girls were often misdiagnosed with other conditions. The authors noted that part of this reluctance may correspond to the perceived higher incidence of ASD among boys.5
Lack of Parental Education, Resources
Because ASD has long been associated with the stereotypical presentation displayed by boys, many parents believed that ASD was not a relevant diagnosis for girls — thereby dissuading parents from identifying symptoms and seeking a diagnosis earlier in their child’s life. Overall, parents of boys are around 1.46 times more likely to express 1 or more concerns about ASD than parents of girls.5
Ms Cruz commented, “Misinformation is another thing, especially in social media. This may be a cause for delayed diagnosis because people might get the sense that seeking out a diagnosis or an explanation for why they are different from other people isn’t necessary.” Potential misinformation regarding the importance of an early ASD diagnosis and prompt treatment may thwart parents, or even patients themselves, from taking action to seek a diagnosis of ASD.
Compensatory and Camouflaging Behaviors
Given that girls with ASD more frequently use camouflaging techniques to mask social difficulties when interacting with peers, their symptoms may not be as apparent to parents and physicians.5
In a review of the diagnostic implications of autism symptoms in women, study authors broke down social camouflaging into 3 categories: 1) compensation for autistic traits or behaviors, 2) masking one’s own autistic traits via constant monitoring of personal behaviors (such as eye contact, gestures, facial expressions), and 3) assimilating other people’s behaviors and forcing oneself to perform and pretend during social interactions
To further elaborate, Ms Cruz gave the following examples of camouflaging or masking techniques effectively used by girls and women with ASD:
Suppressing behaviors is a masking technique in which individuals with ASD suppress their emotions, expressions, or socially “unacceptable” behaviors to adapt and conform to social settings.
Studying and imitating social behaviors is a camouflaging technique (whether it is done consciously or subconsciously).7 Individuals will observe people during social events and try to imitate these behaviors. Women with autism may try to plan ahead and try to envision how they will react when placed in certain social situations.
Analyzing body language is another masking technique women with ASD use to imitate and fit in with colleagues and peers to feel more comfortable despite their perceived differences.
Scripting conversations may make it difficult to detect ASD in women. Individuals will imagine conversations involving small talk about basic topics to prepare for social interactions. This is frequently paired with rehearsing those conversations beforehand.
Exhibiting excessive accommodations is another masking technique that women with ASD may use. They may try to be more “go-with-the-flow” and not as strict with the requirements that they need to feel comfortable, but this technique becomes very hard to maintain for longer periods of time.
Lastly, helpfulness is a compensatory technique that women with ASD may exhibit. It might pertain to helping other people, but also helpfulness toward oneself (eg, knowing when to take oneself out of an awkward or uncomfortable situation). Women with autism frequently think about these things in advance and use them to adapt to the situation at hand.
Another aspect that may mask ASD in women is the concept that their “special interests” or intense focuses on particular subjects may align more with their neurotypical peers, such as interests in celebrities or animals, like horses. However, the intensity of interest remains atypical.8
Although these camouflaging behaviors may help women with ASD to fit in socially and interact with their neurotypical peers better, these behaviors are superficial coping methods that can promote autistic burnout, constant feelings of exhaustion, a loss of sense of self, and increased anxiety and stress.8
Studies indicate that women with ASD are objectively more adept at these camouflaging techniques than their male counterparts, and this heightened ability among women to mask their symptoms of ASD is associated with superior signal-detection sensitivity.10 Further, the gender-based expectations of girls/women to “be more social” or “act like a girl/woman” may promote a higher degree of censuring ASD symptoms while simultaneously adopting gender-normative social behaviors.9
Consequences of Delayed Diagnosis
A delayed diagnosis of ASD likely results in long-term consequences, given that early interventions during critical developmental stages in childhood can make a major difference in symptom trajectory. Ms Cruz extrapolated on these consequences, stating, “Not catching autism early can lead to increased difficulties with speech and language issues, executive function, self-regulation, and sensory sensitivities if these symptoms of autism are not treated early.”
Women with ASD are more likely to be prescribed psychotropic medications, such as antidepressants, anticonvulsants, and mood stabilizers, while men with ASD have higher odds of being prescribed anticonvulsants, stimulants, or other medications typically used to treat attention-deficit hyperactivity disorder (AHDH) to help manage their symptoms impulsivity, hyperactivity, and distractibility.10
These gender disparities in prescription trends parallel women’s experiences in medicine more generally, and are in line with Ms Cruz’s observation that women often are diagnosed with secondary mental health conditions, such as anxiety or depression, instead of their underlying disorder. These prescription differences reinforce the notion that ASD does in fact manifest differently in women and men.10
Undiagnosed ASD in women may also promote autistic burnout. Although symptoms of autistic burnout differ from case by case, it has been described as “an overwhelming sense of physical exhaustion.”11
Some individuals with autistic burnout may experience uncontrollable emotional outbursts of sadness or anger, intense anxiety, or even suicidal ideation. Autistic burnout can also exacerbate certain symptoms of ASD, including repetitive behaviors, heightened sensitivity to sensory input, or increased difficulty accepting changes to daily routines.11
Evidence suggests that autistic burnout often results as a consequence of camouflaging and mimicking neurotypical behavior, such as small talk, eye contact, and suppressing repetitive behaviors — all of which require significant effort and energy on the part of the individual with ASD.11
Ms Cruz recounted,
Most of the patients that I have seen with autism have said that they have coped with autism for a long time until a point where they can’t do it anymore. That feeling was the driving force behind them eventually seeking help and an official diagnosis. They coped for so many years trying to overcome situations, avoid other situations, manage symptoms, or change the way they saw or did things. At the end, they just can’t do it anymore.
Clinical Challenges Diagnosing Autism in Adults
Diagnosing ASD in adult women may prove challenging to clinicians for several reasons. For example, developmental trajectories and outcomes of social communication vary more during adolescence and adulthood than childhood.12
Additionally, ASD is a neurodevelopmental disorder that by definition manifests in early childhood. If this diagnosis is missed during childhood, it may prove more challenging to diagnose in adults because their parents or other family members may no longer be present to provide reliable childhood medical history or symptom reporting. This is particularly important as patients may not be able to accurately recall or identify autistic traits they may have exhibited at a young age. 12
Given that women with ASD have an increased likelihood to develop comorbid conditions relative to men, clinicians may inadvertently focus more on the management of these conditions and thereby overlook the more subtle symptoms of ASD that are present in women.12
With this in mind, physicians should consider careful ASD screening assessments that account for autism symptoms in women, instead of relying on the more pronounced manifestations that are commonly associated with boys/men. Additionally, women who present with symptoms of ADHD, depression, anxiety, or social anxiety may warrant a full ASD assessment to ensure diagnostic accuracy.
Active efforts are needed to remedy this health disparity. Identifying this “lost generation”12 of adult women with ASD is the first step in validating the struggles that they are enduring, but just might be better at hiding.
Editor’s note: Some responses have been revised for clarity and length.
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Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication/interaction and restricted, repetitive behaviors, interests, and activities that cause significant impairment in functioning.1,2 The terminology and diagnostic criteria of ASD have changed several times since the disorder was first described in 1943, which has made it challenging to standardize research and identification.3 Yet in recent years, the prevalence of ASD has been markedly increasing, and the demographics of those diagnosed with ASD has been changing.1 Understanding the basic facts about ASD and the latest statistics and trends is essential for identifying patients early and providing them with optimal care.
Causes of Autism Spectrum Disorder
Although researchers have not identified a single, unifying cause of ASD, it is believed to result from a combination of genetic and environmental factors that affect the developing brain.4,5
Limited evidence suggests individuals with ASD have anatomical changes in the layers of their cortex. Patients with ASD exhibit differences in limbic areas involved in fear and emotional regulation, such as the amygdala. The brains of individuals with ASD frequently have “overgrowth” of their cortical areas and increased cerebral spinal fluid. They also have changes in the balance of excitatory and inhibitory neurotransmission and signs of abnormal cellular differentiation.4 Extensive evidence has demonstrated thatthe measles, mumps and rubella vaccine and other childhood vaccines do not cause ASD.5
Risk Factors for ASD
Many risk factors are associated with developing ASD. Older maternal and paternal age have each been associated with an increased risk of ASD.4
The use of certain medications during pregnancy has also been associated with the risk of having a child with ASD. Maternal antidepressant use — specifically selective serotonin reuptake inhibitors — during the second or third trimester has been associated with an increased risk of ASD, even after adjusting for maternal depression.6 Prenatal use of thalidomide and valproic acid also have been linked to an increased risk of ASD in offspring.4 Conversely, taking prenatal folic acid while also taking an antiepileptic medication might decrease the risk of ASD.4
Genetics may play a role in ASD risk. Siblings of a person with ASD have a higher chance of developing the disorder.4 One monozygotic twin have a higher chance of developing ASD if the other twin has it. Several chromosome-linked disorders, including Fragile-X and Down syndrome, have also been associated with the occurrence of ASD.4,7
What Are the Most Common Signs?
The current American Psychiatric Association diagnostic criteria for ASD are published in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, Text Revision.2 Those criteria include 2 primary categories of symptoms: deficits in social communication/social interaction, and restricted, repetitive patterns of behavior, interests, or activities.2
Many people with ASD have atypical social behaviors. They may have impaired verbal and nonverbal communication, as well as difficulty making friends and maintaining relationships.2,7 Individuals with ASD tend to avoid eye contact and have difficulty interpreting normal social cues.7 They have trouble understanding implications or hidden meanings and engaging in the back-and-forth of a conversation.
Repetitive behaviors commonly exhibited by people with ASD include the following2:
Repetitive motor movements or speech (such as body rocking, arm or hand flapping, repeating words just spoken by another person); and
Insisting on sameness, inflexibly adhering to routine, or performing ritualized patterns of behavior (such as having difficulty with transitions, having rigid thinking patterns, needing to eat the same food each day).
Behaviors associated with ASD also may include a strong preoccupation with minute details or obsessions with certain topics or objects, such as a type of toy. Lining up objects in a specific manner or order can be a characteristic behavior of ASD.2,8
Individuals with ASD may be hyperreactive or hyporeactive to sensory input. They may be uncomfortable or upset by certain sounds. They may also display high sensitivity to certain types of visual or tactile stimuli, such a textures, lights, or movement.2,8
For an individual to receive an ASD diagnosis, their symptoms need to significantly impair their functioning. This could include their ability to focus at school, communicate with others, or hold a job and live independently.2,8
Comorbid Conditions
Autism spectrum disorder can co-occur with many other conditions, particularly neurological or psychiatric conditions.4 Approximately 37% of children with ASD also have an intellectual disability.9 Psychiatric disorder such as anxiety disorders, attention deficit/hyperactivity disorder, mood disorders, disruptive behavior disorders, and obsessive-compulsive disorder are also highly comorbid with ASD.4 Most adults with ASD have at least 1 comorbid psychiatric condition.10 Other common comorbidities include seizures, sleep disorders, gastrointestinal problems, and immune dysfunction.4,11
When Is Autism Spectrum Disorder Diagnosed?
Autism spectrum disorder is usually diagnosed during childhood, generally during the first 2 years of life.7 Social deficits typically are noticeable in the toddler years, and parents may recognize that their children miss developmental milestones. Early diagnosis is critical for the implementation of early interventions, including psychological and behavioral therapies.7Earlier ASD diagnoses are associated with improved quality of life compared to those in whom the diagnosis is delayed.12
A person's sex may play a role in the age of diagnosis. A study that compared the age at diagnosis of ASD in 208 people found that males were more likely to be diagnosed before they were age 18 years, and females were more likely to be diagnosed in adulthood.12
In the United States, early diagnosis of ASD may be improving. According to the Centers for Disease Control and Prevention (CDC), in 2020, children born in 2016 were 1.6 times as likely as children born in 2012 to be identified as having ASD by age 4.9
Autism Spectrum Disorder Statistics
Autism spectrum disorder is an increasingly common condition. The CDC's Autism and Developmental Disabilities Monitoring (ADDM) Network published its most recent surveillance report in 2023; it focused on data from 2020.1,13 Th ADDM Network found approximately 1 in 36 children in the United States was estimated to have ASD.1,13 This prevalence has increased steadily over the last 20+ years. The estimated prevalence of ASD was 1 in 150 children in 2000, and 1 in 44 in 2018.1,13
The World Health Organization estimates that worldwide, approximately 1 in 100 people have ASD.5 This is not likely to be accurate, however, because many low-income countries have limitations with consistent reporting methods. In developing countries, there also may be less overall awareness of ASD and access to consistent medical care.5
Autism spectrum disorder affects people of all racial and ethnic groups.13 In the ADDM Network report, the estimated prevalence of ASD in 2020 was highest among Hispanic (3.3%) and Asian/Pacific Islander (3.2%) children, were followed by Black (2.9%), American Indian (2.7%), and White (2.4%) children.1,14 Children of 2 or more races had the lowest incidence of ASD (2.3%).1,14 These data differ from previous estimates, in which the prevalence was highest among White children.9
In the ADDM Network report, the prevalence of ASD also varied by geographic location. Of 11 state sites included in the report (Arizona, Arkansas, California, Georgia, Maryland, Minnesota, Missouri, New Jersey, Tennessee, Utah, and Wisconsin), the overall prevalence was highest in California (4.5%), while the estimated prevalence was lowest in Maryland (2.3%).1,9
The prevalence of ASD varies greatly by sex. In the United States, boys are about 4 times more likely than girls to receive a diagnosis of ASD.1,9 However, 2020 was the first time the ADDM Network estimated that the prevalence in girls was greater than 1%.
Author Bio
Hannah Actor-Engel, PhD, earned a BS in Neural Science at New York University and her PhD in Neuroscience at the University of Colorado. She is a multidisciplinary neuroscientist who is passionate about scientific communication and improving global health through biomedical research.
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Autism spectrum disorder (ASD) is a developmental disorder characterized by ongoing problems with social communication, social interaction, and restricted, repetitive behaviors, interests, and activities.1,2 While an experienced clinician can reliably identify ASD in children as young as age 2 years, many children do not receive the diagnosis until they are much older, which delays effective treatment.3 Parents may be able to spot signs and symptoms of ASD very early in their child's life, which can lead to earlier evaluation and treatment. This article describes what you should do to prepare for the initial evaluation if you suspect your child may have ASD, or if you think you might have ASD.
Prevalence of Autism Spectrum Disorder
In the United States, approximately 1 in every 36 children aged 8 years is estimated to have ASD.4 Boys are approximately 4 times as likely to be diagnosed with ASD than girls.4 Because ASD is a lifelong condition, an estimated 2.2% of U.S. adults (approximately 5.4 million people aged 18 years and older) are living with ASD.5
Early Signs of Autism Spectrum Disorder
Autism spectrum disorder can be diagnosed at any age.6 Symptoms of ASD are generally identified when a child is aged 12 to 24 months, though they may appear earlier than 12 months if severe, or later than 24 months if subtle.1 Parents or caregivers may be able to notice early signs of ASD before their child is 1 year old.2
Typical early symptoms of ASD include1:
A delay in language development;
A lack of social interest or unusual social interactions (such as pulling someone by the hand without trying to look at them);
Abnormal patterns of play (such as carrying toys around but not actually playing with them); and
Atypical communication (such as knowing the alphabet but not responding to their own name).
The 2 types of symptoms of ASD are difficulties with social communication/interactions and restricted, repetitive behavior, interests, or activities.1
Specific social communication/interactions problems include avoiding eye contact, having difficulty using nonverbal gestures, using stilted or scripted speech, interpreting abstract ideas literally, having trouble recognizing one's own emotions as well as the emotions of other people, and having difficulty making or keeping friends.2
A child who shows restricted interests is extremely focused on a specific subject to the exclusion of other subjects and expects others to be just as interested in that subject.2 A child with ASD has inflexible behavior and extreme difficulty dealing with change, particularly changes in routine or participating in new experiences.2 Repetitive behaviors might include movements such as hand flapping, rocking, or spinning, being hypersensitive to stimuli such as loud noises, and arranging toys or other items in a very particular pattern.1,2
Studies have shown that, with rare exceptions, a child with ASD will experience deterioration in their social and communication behaviors over the first 2 years of life. During the second year of life (aged 12 to 24 months) repetitive behaviors and abnormal play typically become more obvious. A small number of patients with ASD experience these behavioral declines in adolescence. Some people with ASD may not seek an evaluation for ASD until they are an adult, possibly prompted by an ASD diagnosis in a child in their family.1,2
Autism Spectrum Disorder Screening: Resources and Tools
While parents can informally assess their child for signs and symptoms of ASD, they also can use tools designed for that purpose. While these tools generally are intended to be used by clinicians, they rely at least in part on input from parents, so parents may find it helpful to explore them before their child is evaluated by a specialist.
The Modified Checklist for Autism in Toddlers (M-CHAT-R; available at www.mchatscreen.com) is a screening tool intended to be used by primary care providers, specialists, or other professionals to determine a child’s risk for ASD.7 It consists of 2 parts: the M-CHAT-R and the M-CHAT-R Follow-up (M-CHAT-R/F).
The M-CHAT-R consists of 20 yes/no questions about how a child usually behaves. Scoring of the M-CHAT-R is interpreted as follows7:
Total score 0 to 2: Low risk. Repeat screen after second birthday for children under 24 months of age.
Total score 3 to 7: Medium risk. A clinician should administer the M-CHAT-R/F to obtain further details about at-risk responses. If the score is still 2 or higher, the child has screened positive.
Total score 8 to 20: High risk. The child should receive immediate diagnostic assessment and early intervention evaluation from a clinician.
If a child screens positive on the M-CHAT-R, a clinician should administer the M-CHAT-R/F, which consists of 20 pass/fail questions and detailed instructions for how to interpret the results.7 Because the goal of the M-CHAT-R is to detect as many cases of ASD as possible, it has a high rate of false positives, which means that not every child whose M-CHAT-R results suggest they are at risk for ASD will be diagnosed with the disorder.7 However, children who screen positive on the M-CHAT-R are at risk for other developmental disorders and should be evaluated by an experienced clinician.7
In addition to M-CHAT, several other tools that include input from parents can be used to screen children for development delays that might suggest a diagnosis of ASD3:
Ages and Stages Questionnaires (https://agesandstages.com) is a general developmental screening tool to be completed by a parent or caregiver. It features 19 age-specific questionnaires that address communication, gross motor, fine motor, problem-solving, and individual adaptive skills.
Parents’ Evaluation of Developmental Status (https://pedstest.com) is a general developmental screening tool. It is a parent-interview form used to screen for developmental or behavioral problems that warrant further evaluation.
Communication and Symbolic Behavior Scales (https://brookespublishing.com/product/csbs) is a standardized tool to screen for communication and symbolic abilities in children up to age 24 months.
Screening Tool for Autism in Toddlers and Young Children (https://vkc.vumc.org/vkc/triad/stat) is an interactive screening tool for children with suspected developmental delays. It features 12 activities that evaluate play, communication, and imitation skills.
Screening tools such as these are used to help identify a child who might have a neurodevelopmental delay such as ASD, but they do not provide conclusive evidence of a delay and they do not establish a diagnosis.3 Parents who thinks their child might have ASD should express their concerns to their child's pediatrician. The American Academy of Pediatrics recommends that pediatricians conduct general developmental screening of all children at 9, 18, and 30 months of age, and screening specifically for symptoms of ASD at 18 and 24 months.8 If necessary, the pediatrician will refer parents to a specialist who will conduct a thorough evaluation using the appropriate diagnostic criteria.
Autism Spectrum Disorder Diagnostic Criteria
In order to receive a diagnosis of ASD, a child needs to meet the criteria established by the American Psychiatric Association and published in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, Text Revision.1 Those criteria can be summarized as follows1:
A. Persistent deficits in social communication and social interaction as manifested by all of the following:
Deficiencies in social-emotional reciprocity (such as an inability to engage in normal back-and-forth conversation);
Deficiencies in nonverbal gestures used in social interaction (such as problems with eye contact, body language, or understanding or using gestures); and
Deficiencies in developing, maintaining, and understanding relationships (such as a lack of interest in peers).
B. Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at least 2 of the following:
Repetitive motor movements, use of objects, or speech (such as body rocking, arm or hand flapping, lining up toys, repeating words just spoken by another person);
Insistence on sameness, inflexible adherence to routine, or ritualized patterns of behavior (such as difficulty with transitions, rigid thinking patterns, need to eat the same food each day);
Highly restricted, fixated interests that are abnormal in intensity or focus (such as a strong attachment to peculiar objects); and
Hypersensitivity or hyporeactivity to sensory input or abnormal interest in sensory aspects of the environment (such as indifference to pain or temperature, adverse response to specific sounds or textures).
To meet these criteria, a child must not only have the required number of symptoms but the symptoms must have been apparent early in the child's developmental period and must cause significant impairment in functioning.1 These symptoms must not be better explained by an intellectual disability or global developmental delay.1
Autism Spectrum Disorder Checklist for Parents
To best help a child who they suspect might have ASD, parents can be better informed about the condition and diagnosis. Some checklist items for parents to address include:
Keep track of your child’s developmental milestones through the Centers for Disease Control and Prevention (CDC) milestone tracker app (https://www.cdc.gov/ncbddd/actearly/milestones-app.html), which outlines incremental milestones for children from age 2 months to 5 years.9
Research the initial signs/symptoms and diagnostic criteria of ASD.1
Use a developmental screening tool, such as the M-CHAT-R or Ages and Stages Questionnaire, to prepare for your child's initial diagnostic evaluation with their pediatrician.3
Seek out an evaluation from a specialist such as a psychiatrist or psychologist.2
Autism Spectrum Disorder Checklist for Patients
An adolescent or adult who suspects they may have ASD can follow a similar checklist:
Research the symptoms and diagnostic criteria of ASD.
Express your concerns to your primary care provider.
Seek out a specialized evaluation from a specialist.
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Introduction
Dizziness is a common complaint among patients seeking care. The dizzy patient is frequently seen in a primary care setting and emergency department visits, accounting for up to 5% of those types of encounters.1,2 Over their lifespan, close to 35% of the adult population can present to a health care provider for a complaint of dizziness.2 Moreover, up to 25% of patients with dizziness have a potentially life-threatening condition (eg, stroke, cardiovascular, or metabolic events), and nearly 50% of patients can leave the clinician with an incorrect diagnosis or no official diagnosis at all.2,3
Because of the extensive overlapping etiologies of dizziness, it is prudent to have a well-rounded and universal approach.4 Classically, the subjective and ambiguous definition of dizziness is divided into 4 major descriptive categories or types5:
However, patient descriptions may be vague and vary considerably (eg, vertigo, spacey, rocking, weak, lightheaded, brain fog, floating, or off-balance), while some are unable to truly describe their sensations.6 This traditional approach based on type of dizziness has never been validated, is unreliable because it is not evidence-based, and has not been shown to accurately correlate with the cause of dizziness.7-9 Ultimately, with prevention of morbidity and mortality in mind, providers can take a better approach.
The Triage-TiTrATE method may serve as a useful model for isolating the potential causes of dizziness.10-12 This method shifts the focus toward triaging, with an emphasis on symptom timing and triggers, while using targeted bedside eye exams. In brief, an initial triage to identify obvious threats or causes coupled with a dizziness classification into a respective vestibular syndrome is based on the patient’s history of timing and triggers. This may help reduce complexity and decrease the rate of misdiagnosis, particularly from a serious cause. This method is supported by a current best-evidence approach to dizziness.13Of note, a 2020 study using an algorithm sequence questionnaire based on timing and triggers was shown to be both valid and reliable in helping predict the most likely cause of dizziness in an outpatient setting.14
Taking a History
When a patient presents with dizziness it is important to take a thorough history. Patient descriptions can offer benefits, however mostly lack utility in diagnosis given the variety of subjective symptoms that can be described.15 History components should outline the dizziness onset (new or recurrent), duration, triggers, and associated symptoms versus identifying the type of dizziness.10 Reviewing the past medical history, family medical history, social history, and medications will offer hints into a diagnosis. Gathering the appropriate information will also help uncover a peripheral versus central cause of dizziness, such as a stroke.16
Triage
Recognize dangerous and/or nonvestibular causes based on history, vital signs, and selective testing.17
Examples:
History: dangerous D’s (diplopia, dysarthria, dysphonia, dysphagia, dysmetria), thunderclap headache, head-neck-ear injury, photophobia, chest pain, presyncope, shortness of breath (SOB), pleurisy, vomiting, diarrhea, melena, vaginal bleeding in pregnancy, medications (new or altered dose), drug or alcohol ingestion, bleeding, anxiety.18
Testing: patient-specific, and may include: blood glucose, complete blood count, complete metabolic panel, electrocardiogram, cardiac enzymes, chest radiograph, D-dimer, and urine drug screen.
Timing (TiTrATE)
During this step, the provider discovers the onset, duration, and evolution of the dizziness. It is then categorized as an acute, episodic, or chronic vestibular syndrome.10
Acute: new-onset episode, persistent, and prolonged for days to weeks.
Episodic: recurrent intermittent dizziness for seconds, minutes, or hours, classified as either triggered or spontaneous.
Chronic: lasting weeks, months, or years.
Triggers (TiTRATE)
Information about what triggers dizziness can help the provider discern whether it is provoked by an event or exposure.12
Head or body movement, standing, visual, sounds, Valsalva.19
And Targeted Exams (TiTRATE)
Specific findings from a targeted eye examination can help separate benign from serious causes.11
HINTS (head impulse, nystagmus, test of skew).
A clinically concerning HINTS exam that meets central criteria is shown to be 100% sensitive and 96% specific for stroke.20
By using the timing and triggers history, providers can categorize the patient into a vestibular syndrome, and each syndrome will guide the targeted eye exam.22
Acute Vestibular Syndrome
Acute vestibular syndrome (AVS) is defined as a new-onset episode of continuous and persistent dizziness lasting days to weeks. Associated symptoms may vary and include exacerbation with any head movement, nystagmus, unilateral hearing loss, abnormal gait, nausea, and vomiting.12
It is important to differentiate between worsening symptoms with head movement and triggering of symptoms with head movement, as the former should fall under AVS.27 Common diagnoses to consider include posterior circulation ischemic stroke, vestibular neuritis (VN), and labyrinthitis. Less commonly seen are thiamine deficiency, medication toxicity, and multiple sclerosis.22 Caution is advised as even though stroke and VN are the most commonly seen, the potential for symptom overlap and similarities does exist, along with isolated dizziness in a stroke.28
"
History components should outline the dizziness onset (new or recurrent), duration, triggers, and associated symptoms versus identifying the type of dizziness…Gathering the appropriate information will help uncover a peripheral versus central cause of dizziness (ie, stroke).
A 3-step bedside eye movement exam known as theHINTS exam can confidently rule out stroke more precisely than magnetic resonance imaging (MRI) within the first 48 hours.29 HINTS is both cost-effective and time-saving.30 If imaging is deemed necessary, MRI is more sensitive and accurate for stroke detection than computed tomography (CT); however, no accompanying diagnostic improvement is seen.31 Alternatively, the addition of a hearing exam to detect hearing loss (known as the HINTS PLUS exam) may aid in identifying brainstem ischemia.32 Finally, the use of video-oculography can also assist in stroke diagnosis.33
Episodic Vestibular Syndrome
Episodic vestibular syndrome (EVS) is defined as recurrent episodic bouts of intermittent dizziness lasting a few seconds, minutes, or hours. Multiple episodes are typically experienced by the patient. The condition is divided into subcategories of triggered or spontaneous.
Triggered: dizziness that is triggered by a specific event or exposure, with episodes typically lasting less than 1 minute. Most commonly caused by a change in head position or standing, such as benign paroxysmal positional vertigo (BPPV) and orthostatic hypotension.10,12 Other causes include postural orthostatic tachycardia syndrome (POTS) and superior semicircular canal dehiscence syndrome (SCDS), which are less common.18
Spontaneous: dizziness that is not triggered by an apparent specific event or exposure. Conditions can include transient ischemic attack (TIA), vestibular migraine, Meniere’s disease, and panic attack/hyperventilation.21 Episodes will typically last minutes to hours.
Chronic Vestibular Syndrome
Chronic vestibular syndrome (CVS) is defined as dizziness that lasts weeks, months, or years, and that may or may not have an initial or discernible cause. The differential diagnosis can include acoustic neuroma, posterior fossa tumor, cerebellar disease, multiple sclerosis, somatoform or psychogenic, post-concussive syndrome, and polypharmacy.12,23,24,26 Rare causes of CVS are bilateral vestibular loss (BVL) and persistent postural-perceptual dizziness (PPPD).18,25
Additional Neurologic Testing, Imaging, and Labs
Considering the complexity of diagnosing the dizzy patient, the practitioner must personalize additional neurologic tests, neuroimaging, and laboratory testing based on the history and examination. Clinically relevant physical exam testing may include pronator drift, rapid alternating movements, finger-to-nose, gait analysis, Romberg, and the Timed Up and Go.
Key Clinical Points
Dizziness can present as the sole symptom of a stroke.
As the HINTS exam and Dix-Hallpike maneuver have strong reliability, the provider should learn to effectively and correctly perform them.
Movement may exacerbate symptoms in ANY vestibular syndrome; do not take this as a positive Dix-Hallpike in error.
If a HINTS exam displays even 1 central sign, this should point towards a concerning cause.
The targeted eye exam is more sensitive than MRI in patients presenting in the first 48 hours.
CT is a poor test to exclude posterior circulation stroke.
Each vestibular syndrome closely relates to a specific differential diagnosis list.
Conclusion
Identifying the etiology of dizziness is complex, and without a methodical approach, providers risk missing the correct diagnosis. The Triage-TiTrATE method provides a credible approach. Accurately triaging and emphasizing key features of the complaint, in combination with a targeted bedside eye exam, will likely have better patient outcomes than traditional methods incorporating subjective descriptions of dizziness. Clinically appropriate testing and management can then ensue. Further research should aim to confirm this algorithm’s accuracy and effect on clinical practice.
For instructional videos on HINTS and Dix-Hallpike, please see:
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