Lyme Disease Awareness Month runs throughout the month of May. It is a month that helps increase awareness and improve efforts on how to reduce the burden of the disease for patients. Approximately 15% of patients with Lyme disease will develop Lyme neuroborreliosis, or neurologic Lyme disease,1 which is an infectious disease that affects the central nervous system (CNS). It can be challenging for patients with neurologic Lyme disease to be diagnosed, especially if they do not present with typical symptoms.
For Maria Arini Lopez, it took her almost 2 years to be accurately diagnosed with neurologic Lyme disease. Looking back, Lopez considers herself one of the more fortunate patients, as she recalls learning that it can take more than 2 years to receive an official Lyme disease diagnosis. Lopez, who lives in central Maryland, shared that her COVID-19 pandemic hobby — gardening — was most likely the culprit of her infection in the spring of 2021.
She did not experience any of the tell-tale signs of Lyme disease, which includes the “erythema migrans” rash – often characterized by its “bull’s eye” appearance. Lopez admits that her unusual symptoms made it challenging for clinicians to diagnose her with Lyme disease. This led to her extraordinarily complicated diagnostic journey.
To better understand what it’s like to live with neurologic Lyme disease and how clinicians can improve diagnosis and alleviate disease burden for patients, Lopez recounts her experience from her gradual onset of symptoms to receiving an official diagnosis and how the disease has impacted her daily life.
"
If patients present with inexplicable or atypical symptoms and happen to live in a Lyme-endemic region, testing for Lyme infection may be well worth the effort.
Take us through your experience of being diagnosed with neurologic Lyme disease. What did your clinicians do well? Did you have any poor experiences?
Lopez: I had dramatically varied experiences with 8 different clinicians, including a primary care physician (PCP), optometrist, dentist, otolaryngologist, urogynecologist, rheumatologist, neurologist, and an integrative medicine physician.
I first saw my PCP in early July 2021 for an annual physical and full workup. I expressed feeling concerned that something was just not right. I was having trouble sleeping and felt depressed. I was also a lot more fatigued than usual.
The PCP dismissed my basic labs (complete blood count, metabolic panel, and urinalysis) as ‘normal,’ and told me that I was ‘doing okay,’ despite my communicating that I was struggling. My PCP confirmed that I had a urinary tract infection (UTI), another urgent care provider gave me antibiotics, and I was sent on my way.
My eyes and mouth became very dry, to such a degree that I began to think it might be Sjogren syndrome or some other autoimmune disease. Several years ago, I had been diagnosed with dry eye and had been faithfully following the dry eye regimen recommended by my optometrist, but it was no longer effective. I had the lowest grade for the dry eye testing thanks to the regimen I was prescribed. Now, I had confirmed grade 3 staining, despite following the same regimen. Based on all my symptoms, she agreed that something systemic was going on, and that further testing was now necessary.
When I went to my dentist for my biannual cleaning, I told her about the abnormal sensations, or lack thereof in my lips and tongue, as well as the strange itching in my ears, and she acknowledged my suspicion that I might have Sjogren syndrome. She stated that compared with other patients she knew who had Sjogren syndrome, I had more saliva in my mouth, so she did not think it was the likely culprit, but that it might be worth ruling out. She highly recommended that I see an ear, nose, and throat (ENT) doctor.
The ENT doctor who I saw was extremely thorough. She ordered brain magnetic resonance imaging (MRI) to check for anything that may have been affecting the cranial nerves. Although the MRI was negative, it still ruled out certain outcomes. She also diagnosed me with ear eczema and prescribed a steroid cream and steroid ear drops for both ears. These medications helped immensely with the itching and flaking; however, they did not resolve the underlying discomfort, occasional sharp pain, and lack of flexibility in the cartilage of my right ear.
The ENT recommended I see a rheumatologist to completely rule out Sjogren syndrome and other potential autoimmune conditions, such as multiple sclerosis (MS). The rheumatologist was wonderful! She listened carefully to my medical history and immediately ran a series of more in-depth serological tests for a variety of autoimmune and rheumatic conditions that could possibly explain my symptoms. All of these tests, however, were negative.
What were some notable symptoms you were experiencing throughout your diagnostic journey?
Lopez: Cognitive deficits became apparent, including short-term memory loss, severe brain fog and lack of clarity when thinking, slower processing speeds, and impaired executive function. What used to take me 30 minutes to complete now took hours. I no longer worked as a physical therapist, and symptoms were severely impacting my daily function and work as a freelance medical writer.
Other notable symptoms included daily headaches, neck stiffness, intermittent dizziness and vertigo, severe fatigue and flu-like symptoms, mood disturbances, and whole-body flushing similar to hot flashes that would last up to 30 minutes or longer. My right knee joint began to feel swollen and arthritic. As a manual physical therapist, I had worked for a decade in outpatient orthopedic settings with individuals with knee osteoarthritis and rheumatoid arthritis, so I knew what an arthritic knee felt like to the touch.
I finally turned to a neurologist. After listening to the timeline of my symptoms, he thought of 2 potential explanations. I either had a vitamin B12 deficiency that was contributing to what he called “subacute combined degeneration of the spinal cord,” or there was something of a systemic and infectious nature, possibly viral, that was impacting my neurologic function. He prescribed sublingual B12 along with folic acid and B2 supplementation for 3 months to see if my neurologic symptoms improved. If not, he would investigate possibility that it was an infectious disease.
What happened at the 3-month mark?
After 3 months, the supplements had not improved my symptoms, and my health continued to deteriorate. I was preparing to undergo a lip biopsy in January 2022 to see if Sjogren syndrome was the answer. The ENT doctor mentioned that sometimes blood tests did not always effectively rule out Sjogren syndrome, but that a biopsy would be a definitive next step in the diagnostic process.
I read a story about a patient’s experience with an integrative medicine doctor in Northern Virginia. I knew in my gut that I needed to schedule an evaluation with this doctor, or someone else at his practice. On the day I was scheduled for my lip biopsy, I cancelled my appointment and scheduled a virtual telemedicine visit with the integrative medicine specialist. By this time, I was fatigued to the point that traveling any distance took maximal effort.
After listening to my lengthy story, which I had now told upwards of 8 times, the integrative medicine doctor wrote a referral for me to undergo 52 blood tests, including a genetic test called GENIE, as well as the line blot serum tests for Lyme disease. On February 9, 2022, I finally found out that I had an active Lyme infection with Borrelia burgdorferi.
According to LabCorp, diagnosis of Lyme disease using Western blot testing requires positivity of 1 of the following 2 patterns:
An immunoglobulin (Ig) G-positive pattern, in which 5 of the following Borrelia-specific bands (18, 23, 28, 30, 39, 41, 45, 58, 66, and 93) are positive
An IgM-positive pattern, in which 2 of the 3 Borrelia-specific bands (23, 39, 41) are positive
My results indicated an IgM-positive pattern, reading:
B burgdorferi 41kD Ab.IgG
B burgdorferi 39kD Ab.IgM
B burgdorferi 23kD Ab.IgM
Although it may have provided more detailed information to definitively confirm a Lyme neuroborreliosis diagnosis, I never underwent cerebrospinal fluid (CSF) analysis, which experts recommend in addition to serological testing.1,2
What did your clinician do well during your original diagnosis?
The integrative medicine specialist immediately started me on oral doxycycline. He provided me with extensive background information on the Herxheimer response, preparing me for the possibility that I may feel worse before I felt better. He also prescribed a substantial number of oral supplements to help my body better cope with the die-off and detoxification process. I received an email with a detailed explanation as to each supplement’s purpose and how I was to take them.
After 4 months of treatment with antibiotics and supplements, the Lyme bloodwork was now negative, with only one band (Borrelia burgdorferi 41kD Ab.IgG) showing up as positive.
Fast forward to April 2024, although I completed a successful antibiotic, my sensory paresthesia throughout my body began to worsen again. I underwent additional neurologic testing, including nerve conduction velocity and electromyography testing for upper and lower extremities, a brain MRI without contrast, and complete spinal MRIs with and without contrast.
According to my neurologist, although my large nerve fiber axons seemed mostly intact, Lyme infection has the potential to trigger onset of small fiber neuropathy, contributing to my chronic, widespread skin sensory disturbances as well as several autonomic signs and symptoms, including:
inability to sweat normally,
dizziness/vertigo with positional changes,
extreme fatigue,
Raynaud-like symptoms in feet,
loss of appetite and nausea,
heart palpitations,
dry mouth, and
worsening of dry eyes.
These symptoms can flare up again during an acute viral or bacterial infection. A skin biopsy will be necessary to confirm the diagnosis of small fiber neuropathy. Regardless of the final diagnosis, I learned that Lyme disease can affect not only the CNS, but the peripheral nervous system too.
What do you want clinicians to take away from your experience with neurologic Lyme disease?
Active listening to the whole story in its entirety is critical and medical gaslighting happens, even to other health care providers, and it is unacceptable. Our symptoms and stories are valid, and they should not only be believed, but taken seriously to avoid potentially permanent neurologic deficits.
It is understandable that health care providers can be limited by their scope of practice or area of specialization, but they should never be limited in terms of referring their patients to a specialist or provider who they think might be able to find answers and provide solutions. These recommendations often lead the patient in the right direction and at the very least do not leave them hanging without answers or effective treatment. Continuity of care matters.
Also, not every patient will present with a history of a tick bite or an erythema migrans rash. These patients may experience progression of concerning symptoms that can mimic other conditions, complicating accurate diagnosis and enabling an acute, early-stage Lyme infection to transition into a chronic, late-stage infection that pervades multiple body systems, including the central nervous system, joints (especially the knees), and heart.
If patients present with inexplicable or atypical symptoms and happen to live in a Lyme-endemic region, testing for Lyme infection may be well worth the effort.
Thank you to all the health care providers that listen, believe, and actively seek answers without giving up. You give patients like me hope for a better future.
Editor’s Note: This interview was edited for clarity and length.
This is the second article in a 2-part series on Lyme disease. The first article Lyme Neuroborreliosis: Expert Shares Key Insights on Diagnosis, Treatmentis available here.
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Autism spectrum disorder (ASD) is a multifaceted developmental disorder consisting of persistent deficits in social communication and interaction, as well as restricted, repetitive behaviors, interests, and activities.1 Some individuals with ASD learn to use certain behaviors and strategies to minimize or conceal their symptoms so they can be perceived as neurotypical. The term “masking” (also referred to as “camouflaging") is used to describe these coping strategies.1-5
Masking may offer certain benefits to people with ASD, but it also can lead to delayed diagnosis or treatment, and may negatively affect their mental health.6,7 Clinicians need to be able to recognize masking behaviors so they can identify individuals with underlying social communication difficulties.6 This article describes masking by individuals with ASD, and its reasons, implications, and consequences.
"Masking" Behaviors in Autism Spectrum Disorder
The diagnostic criteria for ASD are defined in the American Psychiatric Association’s Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, Text Revision (DSM-5-TR).1 The DSM-5-TR criteria specify that symptoms of ASD must be present in an individual's early developmental period, but they may not become noticeable until social demands exceed one’s limited capacities, or they may be disguised by learned behaviors.1
Individuals with ASD — particularly males — also may have one or more comorbid intellectual developmental disorders.1,3,6 However, individuals with ASD who have minimal or no cognitive impairment may have more subtle displays of their symptoms and may be better able to hide these deficits through masking.1
Behaviors that a person with ASD might use to mask their symptoms include the following3,5,6:
Making and maintaining eye contact despite being uncomfortable doing so;
Rehearsing conversations;
Mimicking others' mannerisms and styles;
Mimicking conversations;
Adjusting the volume of their speech; and
Not standing too close to others.
Individuals with ASD often learn to use masking behaviors over time. They may become adept at looking at others when speaking to them, using scripted phrases during conversations, or mimicking others' facial expressions, gestures, and mannerisms. However, their limitations in social interaction might be revealed when (for example) a person with ASD who has learned to effectively use storytelling to fit in tends to speak in monologues instead of engaging in typical back-and-forth conversation.6
"Masking" vs "Camouflaging"
While many researchers and clinicians use the terms masking and camouflaging interchangeably, others make distinctions between various types of these behaviors. Based on the personal experiences of individuals with ASD, Hull et al developed the Camouflaging Autistic Traits Questionnaire (CAT-Q), a 25-item self-report questionnaire, and administered it to 354 adults with ASD.4 Using a self-report method allowed the participants to describe their own behaviors across various situations.
The findings suggested there are 3 subtypes of camouflaging behaviors: compensation, masking, and assimilation.2,4 Compensation for social deficits related to ASD includes using rehearsed phrases and mimicking the observed mannerisms of others.2,4 Masking autistic traits involves having an intense awareness and monitoring of one’s behavior to present a non-autistic persona to others.2,4 Assimilation is using behavioral techniques to blend in better in uncomfortable social situations without letting others see the discomfort (for example, by forcing oneself to interact via performing and pretending).2,4
Why People with Autism Spectrum Disorder Use "Masking"
In addition to wanting to fit in better and avoid being stigmatized, people with ASD have other reasons for engaging in masking. Cage et al evaluated masking in 262 adults with ASD.7 The participants described the reasons they use masking behaviors, as well as the contexts in which they most often use masking. Based on the responses, Cage et al categorized reasons for masking as conventional (those that served a functional purpose such as at work or school) and relational (those that served to ease everyday social interactions and relationships).7
Conventional reasons include the following7:
To communicate their ideas or work;
To perform well at their job or at school;
To aid working with classmates or colleagues;
To get others to take them, their ideas, or their work seriously;
To get a job;
To reduce awkwardness in social interactions;
To impress their superiors at work or school;
To demonstrate responsibility; and
To get a promotion.
Relational reasons include the following7:
To make friends;
To seem attractive to a potential romantic partner;
To appear likable;
To bond with others;
To fit in with others;
To demonstrate my successes;
To express trustworthiness; and
To express intelligence.
Four reasons did not fit into either category7: "To reduce stigma, stereotypes or discrimination against you"; "Because it is expected of you"; "To find a flat or house to live," and "To make others feel more comfortable."
Participants were also permitted to provide "other" reasons for masking that weren't among the 21 reasons included on the questionnaire. These other reasons were grouped into 5 themes as follows7:
Fitting in and passing in a neurotypical world (most common);
Avoiding retaliation and bullying by others;
Concerns about impression made when not camouflaging;
Habit; and
Internalized stigma (least common).
Adverse Effects of "Masking" in Autism Spectrum Disorder
While individuals with ASD may experience benefits from masking, it also can be detrimental. Masking can delay the diagnosis of ASD or lead to misdiagnosis, thus preventing individuals from receiving prompt, appropriate treatment.2,4 Mental health disorders are common among people with ASD, and masking might make exacerbate these conditions. In their study of theCAT-Q, Hull et al found that masking behaviors were associated with higher levels of social anxiety, anxiety, and depression.4 A greater amount of masking was associated with poorer mental health outcomes.4 Masking also may create problems related to having a sense of identity and experiencing anxiety and stress due to feeling that one cannot be one's "true" self.7
Cage et al examined the experiences of patients who reported “switching” between using masking behavior in certain situations and not using it in others. The levels of stress reported by people who switched were equal to those reported by individuals who frequently used masking, and both groups had higher stress than patients with ASD who used masking less often.7 This suggests that masking in some situations but not others could be as burdensome as masking all of the time.7 Although individuals who switch do not have to face the stress of having to consistently mask their identity, they do have to constantly evaluate the risk of having their autistic identity exposed in each new context.7 This can result in exhaustion and burnout.
"Masking" in Women with Autism Spectrum Disorder
While ASD affects both genders, males are diagnosed more often, and typically earlier in life. These differences in diagnosis might be because in general, females appear to be more likely to use masking strategies, and to use them more effectively.2-4
Cage et al found that women with ASD are more likely than men to engage in masking for conventional reasons, such as in an effort to succeed at work or school.7 Women who use masking have reported that the practice takes extreme cognitive effort and leaves them feeling anxious and exhausted.3,5 Females who use masking may be more aware of their autistic symptoms and the difficulties these symptoms create in social contexts.2 This self-awareness and the stress associated with hiding their symptoms can have a negative mental and emotional impact.2
Conclusion
To fit in better and for other reasons, individuals with ASD may choose to use behavioral strategies to mask their deficits in social communication and interaction. While masking can help patients with ASD in certain areas, such as in engaging in work or school or in forming relationships, it can come at a cost. Masking may delay proper diagnosis of the disorder. It can be physically and mentally exhausting, stressful, and lead to increased anxiety and depression.
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Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects an individual's social interactions and communication.1 In recent decades, the prevalence of ASD has increased from 1 in every 150 children to 1 in every 36.2 While most people with ASD are diagnosed during childhood, individuals with ASD who have subtle symptoms and/or are able to use compensation strategies and coping mechanisms may not receive a diagnosis until adulthood.1 Many of the diagnostic criteria, diagnostic tests, and interventions for ASD emphasize children. Understanding how to recognize, diagnose, and manage ASD in adults is critical to being able to provide optimal care for these patients.
Autism Spectrum Disorder Diagnostic Criteria
As described in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, Text Revision (DSM-5-TR), the diagnostic criteria for ASD include 5 main components1:
Persistent deficits in social communication and social interaction;
Restricted, repetitive patterns of behavior, interests, or activities;
Symptoms must be present in the early developmental period;
Symptoms must cause clinically significant impairment in social, occupational, or other important areas of functioning; and
These disturbances are not better explained by intellectual disability or global developmental delay.
Social Deficits
The social deficits of ASD are categorized as difficulties with social-emotional reciprocity, nonverbal communication, and relationships. Social-emotional reciprocity impairments include having difficulty initiating conversations, being unable to carry on a typical back-and-forth conversation, and not responding in emotionally sensitive or appropriate ways.1 Nonverbal communication deficits include trouble making eye contact or using body language, difficulty using or understanding gestures, and a lack of facial expressions.1 Individuals with ASD may have a lack of interest in or trouble making friends and maintaining friendships. They also may have trouble adjusting their behavior to suite various social contexts.1
Restricted, Repetitive Behaviors
Behaviors that are characteristic of ASD include the following1:
Repetitive motor movements (such as hand flapping or finger flicking), use of objects (such as spinning coins), and speech (such as repeating words and phrases used by others);
Rigid adherence to schedules and resistance to change;
Having highly restricted, fixated interests; and
Exhibiting increased sensitivity to sensory stimuli.
For a patient to meet the criteria for an ASD diagnosis, these symptoms need to have been present since early development.1 Although the ASD symptoms may not become fully evident until later in life, ASD does not first develop in adulthood.1 The ASD diagnostic criteria in DSM-V require that deficits limit or impair a person's everyday functioning, such as the ability to excel in school, maintain a job, or live independently.1
Symptoms of Autism in Adults
Adults with ASD generally have similar signs and symptoms as children. These usually center around poor communication strategies and impaired social functioning. However, adults with ASD may have learned to “mask” or cover up some of those symptoms to fit in and shield themselves from social repercussions associated with ASD. Behaviors that might be used to mask ASD symptoms include the following3,4:
Mimicking others’ mannerisms and styles;
Mimicking small talk;
Altering speech volume;
Rehearsing conversation topics before interacting with others;
Making eye contact despite discomfort doing so; and
Not standing too close to others.
Masking ASD traits may be more prevalent in females than in males.4 One reason more males than females are diagnosed with ASD earlier in life may be that females have more effective masking strategies.4 Masking can help individuals with ASD to succeed in social situations, but it can also lead to anxiety and exhaustion.4
Examples of potential symptoms of ASD in adults include the following3:
Difficulty with expressive communication: Lack of a filter when speaking, flat affect, monotonous tone of voice, difficulty maintaining conversations, avoidance of or particularly intense eye contact, difficulty identifying thoughts/feelings;
Difficulty interpreting communication: Trouble understanding nonverbal cues and others' intentions, thoughts and feelings; and
Restricted interests and behaviors: Insistence on routine and stress when routines are disrupted, intense interest in a particular hobby, object, or area of study.
In terms of repetitive behaviors, adults with ASD often learn to hide hand flapping and other motor movements that are characteristic of younger patients, but they may adapt such behaviors by rubbing their fingers together inside a pocket, tapping their feet, or repetitively rubbing their hands on their thighs.3 In adults, some internal symptoms might not be outwardly apparent, such as social anxiety, social phobia, or exhaustion after social activities3 Adults with ASD also may3:
Have trouble organizing, planning, or maintaining focus;
Irregular sleep patterns; and
Clumsy gait or poor physical coordination.
Diagnosing Autism in Adults
Challenges to accurately diagnosing ASD in an adult include the need to determine if symptoms were present during the patient's early development period, an adult's ability to mask or compensate for ASD symptoms, and the high rates of co-occurring psychiatric and medical disorders, with symptoms overlapping those of ASD.5,6 Prompt diagnosis is important because even in adults, earlier diagnosis is associated with improved quality of life.7 The optimal approach to diagnosing ASD in an adult has not yet been established. A request for evaluation for ASD may be initiated by the patient or by a family member/caregiver. The clinician may need to talk to the patient’s family members to determine if symptoms of ASD have been present since the patient's childhood.8 A referral to a psychiatrist or neuropsychiatrist who specializes in ASD often is necessary because those clinicians are best equipped to make the diagnosis.3,8
The DSM-5-TR diagnostic criteria for ASD are used for both children and adults. However, additional measures may be needed to help establish an accurate diagnosis in an adult patient. Questionnaires used to help clarify an ASD diagnosis in adults include the Autism Spectrum Quotient (AQ), the abridged AQ-10, the Social Responsiveness Scale-Adult version, and the second edition of the Autism Diagnostic Observation Schedule (ADOS-2).6
The ADOS-2 is considered a gold-standard instrument for diagnosing ASD in adults.5 It's a standardized test for measuring communication deficits. It consists of 4 modules that can be administered based on the patient's age; module 4 is intended for adolescents and adults with fully developed speech.5
The ADOS-2 focuses on verbal and nonverbal communication deficits. The test is highly sensitive — it does a good job of detecting ASD in adults who actually have the condition — but there are many false positives, especially if the patient has psychotic symptoms.5
Management of Autism in Adults
Treatment of ASD specifically for adults remains poorly studied, and services for adults with ASD lag far behind those available for children.9 Optimized treatment strategies have not been established.6 Autism spectrum disorder in adulthood presents heterogeneously, and treatment strategies are mostly individually based.
Psychosocial Interventions
Behavioral-based treatments such as social skills training and applied behavior analysis have been used to effectively address the core symptoms of ASD in children, and may be appropriate for adults.4,6 Cognitive-behavior therapy and mindfulness-based therapy approaches have been used with some success for adults with ASD.6 These strategies have been used to improve communication as well as emotional processing to reduce anxiety and stress that arise from societal and social expectations that are not intuitive to understand.4,6 Vocational support such as training in interview skills and supported employment may be beneficial for adults with ASD but research to support a specific vocational strategy is lacking.6
Receiving an ASD diagnosis as an adult can be overwhelming. It is important for adults with ASD to have access to support and resources to understand their condition and feel less isolated. Support groups can be useful for the patient as well as for the family members of an adult who has been recently diagnosed with ASD.3 Online support groups can allow patients to share their experiences without having to face the anxiety of in-person interactions.3
Pharmacotherapy
Other than the antipsychotics aripiprazole and risperidone for treating ASD-associated irritability in children of certain ages, the US Food and Drug Administration has not approved any medications for treating ASD.10 However, people with ASD often also have comorbid psychiatric symptoms and disorders, and receive medication to address these conditions. Specifically, an adult with ASD may benefit from being prescribed the following medications6:
Stimulants or atomoxetine for attention-deficit/hyperactivity disorder;
Antidepressants for anxiety, depression, or obsessive-compulsive disorder;
Mood stabilizers for bipolar disorder; or
Antipsychotics for irritability and impulsivity.
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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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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