People with autism spectrum disorder (ASD) face numerous healthcare disparities relative to their peers without ASD, as individuals with ASD often have reduced access to high-quality health care and experience lower satisfaction with patient-provider communication.1 Recent studies have begun to shed light on the unique obstetric challenges that people with ASD may experience during the perinatal period, although research on the intersectional experience of autism and pregnancy remains limited to date.2,3
“This population of childbearing people are unique in that they face multiple challenges such as unmet healthcare needs, communication issues, and experience more barriers to receiving appropriate education,” said Patricia D. Suplee PhD, RNC-OB, FAAN, associate professor at Rutgers University School of Nursing in Camden, New Jersey.4,5
Unique Challenges of Autism and Pregnancy
Along with the physical, emotional, and service-related challenges that are associated with pregnancy more generally, people with ASD often experience additional perinatal difficulties compared to neurotypical individuals, according to Megan Freeth, MSc, PhD, professor of neurodevelopmental psychology and director of research and innovation in the Department of Psychology at the University of Sheffield in the United Kingdom.
In a 2023 survey-based study published in the Journal of Autism and Developmental Disorders, Hampton et al compared the perinatal experiences of 384 individuals with ASD and 492 individuals without ASD. They found that those with ASD reported lower satisfaction with health care during perinatal medical encounters and were more likely to feel overwhelmed by the sensory aspects of childbirth.6
"
Experts point to the need for ongoing provider education and research to further understand and improve care obstetric care for individuals with ASD.
Although providers should avoid making assumptions about a patient’s sensory experience, Prof Freeth explained that many people with ASD can experience intense challenges with the sensory aspects of pregnancy.7 For example, they may have an extremely heightened sense of smell and taste, sensitivity to touch, or sensitivity to the lights and sounds of clinical environments.
“For some, sensory experiences during birthing can result in feeling so overwhelmed that a disconnect from reality can be experienced,” she said. “Autistic people tend not to express emotional reactions in the same way as non-autistic people, and during birthing this can lead to clinical staff not realizing the severity of stress levels and can also exacerbate miscommunication, resulting in the autistic person not understanding their options and not having their preferences understood” by clinicians.
Studies have also indicated that communication challenges could make it harder for individuals with ASD to ask providers for help during labor and the postpartum period.3 “Some autistic individuals may be unsure how to answer open-ended questions or convey how they are feeling during labor,” said Jane Donovan, PhD, RNC-MNN, assistant clinical professor at Drexel University College of Nursing and Health Professions in Philadelphia, Pennsylvania. “Additionally, during childbirth, there are numerous encounters with healthcare professionals and staff who have varying levels of experience and knowledge working with neurodiverse individuals, and these social encounters with unfamiliar people can be stressful for an autistic individual.” She noted that the stress and pain of labor can exacerbate communication differences for autistic individuals.
Studies have also shown that individuals with ASD are more likely to experience postnatal depression and anxiety relative to their peers without ASD.8,9
Improving Obstetric Care and Outcomes in ASD
In providing obstetric care to patients with ASD, Dr Donovan emphasized that providers need to recognize the vast diversity within this population. “It is essential to understand that autism is a spectrum condition with a great deal of variation among autistic individuals, and a provider’s view of autism should not be based on 1 patient,” she remarked.
Dr Suplee offered the following recommendations for providers developing a care plan for autism and pregnancy:
Assess each birthing person as an individual and do not assume that all patients with ASD will communicate or react the same way
Do not make assumptions about how to provide intrapartum or postpartum care based on perceived client social interactions
Learn how to interpret social cues and sensory overload and how to make appropriate accommodations to best meet the client's needs10
Provide effective communication and tailor all education specifically to the client
Discuss support services that can be incorporated during each phase of the client's birthing journey
Educate staff on what it means when a person experiences a heightened sensory perception of sound, light, or touch and what types of interventions can be utilized in these instances
Prof Freeth noted, “Consistent support from the same team members throughout pregnancy is particularly valued by autistic people.” In addition, “Having clear, precise information provided in written form to supplement information provided via discussions tends to be helpful as some autistic people take a little longer than non-autistic people to process information and appreciate being able to go over key information again in their own time,” she explained.
Other helpful adjustments may include options for individual or online classes or support groups — rather than large group-based formats — and allowing the presence of a patient advocate at appointments.9
Clinicians may need to take extra time to listen to the special concerns of these patients, especially regarding sensory issues. Providers and hospitals may also consider making small adjustments to the sensory environment, such as not having music playing or screens on in a waiting room, having the option to wait for appointments in a non-crowded space, or using a lamp for lighting instead of overhead lights, Prof Freeth recommended.
Dr Donovan added that having sensory kits that contain items such as noise-canceling headphones, stress balls, sunglasses, and fidget toys available on obstetric units may help to ease sensory overload. “Implementing strategies to create a sensory-friendly environment in waiting rooms, examination areas, and on the labor and postpartum units can provide a more welcoming environment to neurodiverse individuals,” she stated.
Given the high rates of comorbid mental health disorders among individuals with ASD,6 Dr Donovan advised that mental health screenings should be included in the plan of care for autism and pregnancy.
Unmet Needs
Experts point to the need for ongoing provider education and research to further understand and improve obstetric care for individuals with ASD. Ideally, such efforts would include “autistic-led training and co-production of service development whereby autistic people are involved in designing maternity services,” Prof Freeth suggested. She noted the need for research focused on the development and evaluation of such services, along with studies that would elucidate the lived experiences of pregnancy, birthing, and the postpartum period among people with ASD.
Dr Donovan said she would like to see provider training programs focused on “interventions to facilitate communication and create sensory-friendly environments.”
“Policies and protocols should be developed and used as guides when caring for birthing people with ASD during the intrapartum and postpartum periods,” Dr Suplee recommended. She cited the need for research exploring strategies for teaching new mothers with ASD about parenting skills and recognizing infant cues, as well as qualitative studies to “build evidence on how best to care for this population during the antepartum, intrapartum, and postpartum periods that will lead to improved maternal health outcomes.”
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Our easy-to-read fact sheets provide clinicians with reliable information to share with patients and their caregivers.
Postpartum depression is defined as the onset of major depression associated with childbirth that negatively affects the mood and behavior of the parent.1 During pregnancy, an individual undergoes considerable hormonal fluctuations, including increased levels of estrogen and progesterone. After childbirth, these hormone levels drop rapidly, which can contribute to the onset of postpartum depression. Additionally, the postpartum period is often accompanied by increased stress due to the demands of caring for a newborn, sleep deprivation, and hormonal changes.
For new parents battling postpartum depression, finding the right medication to manage your condition can be a critical step towards healing and supporting your mental health. Our helpful guide aims to inform patients about the risks, benefits, and considerations associated with postpartum depression medication as they begin their recovery.
"
For new parents battling postpartum depression, finding the right medication to manage your condition can be a critical step towards healing and supporting your mental health.
Major Depressive Disorder
Depression is a general term for a common psychiatric disorder that presents with symptoms such as sadness, irritability, loss of interest in activities, feelings of worthlessness, hopelessness, guilt or anxiety, concerns over death, and/or suicidal ideation. Individuals with depression may also experience fatigue, difficulty concentrating, and changes in their appetite weight, and sleep.2
Major depressive disorder, or MDD, is characterized by a sad mood and/or lack of interest in activities. A diagnosis of MDD requires the presence of at least 5 of the key symptoms for most of the day, nearly every day, or for at least 2 weeks.1,3
Postpartum Depression
Postpartum depression is classified as a major depressive disorder that begins during or after childbirth, typically within the first 3 months and up to 1 year after childbirth. Approximately 15% to 20% of childbearing individuals develop postpartum depression each year. Although it is one of the most common complications of the postpartum period, it is often underdiagnosed and undertreated.1,4
Symptoms of postpartum depression may overlap with MDD, but include unstable mood, anxiety, irritability, extreme sadness, decreased pleasure, low energy, as well as obsessive worry – typically about the baby’s health, feeding, and safety. More serious symptoms that require immediate evaluation by a provider are thoughts about self-harm, suicide, or harming one’s child.1,3,4
While the exact cause of postpartum depression is not fully understood, several key factors contribute to its development:5,6
Hormonal Changes: Hormonal fluctuations during and after pregnancy can impact neurotransmitter levels in the brain, which play crucial roles in regulating mood
Genetic Predisposition: Individuals who have a family history of depression or mood disorders are at higher risk for postpartum depression
Psychological Factors: Psychological factors, such as a history of depression or anxiety, can increase the risk of developing postpartum depression. Additionally, stressors related to childbirth, such as difficult labor, pregnancy complications, or concerns about parenting, can contribute to the onset of depression
Social Support and Stress: Lack of social support, relationship difficulties, financial strain, and other stressors can exacerbate the risk for postpartum depression
Physical Health: Vitamin D deficiency, gestational diabetes, obesity, chronic health conditions, sleep disturbances, or health complications during pregnancy or childbirth can also contribute to the development of PPD
Medication Options
If you are experiencing symptoms of postpartum depression, speak with your provider to discuss treatment options. Currently, antidepressants in combination with psychotherapy are recommended to treat moderate-to-severe depression.1 Commonly used postpartum depression medication options include the following:
Nortriptyline is a TCA that inhibits reuptake of norepinephrine and serotonin into the neurons to increase their levels, as well as inhibit the activity of other agents.
Mirtazapine is an atypical antidepressant that works as an antagonist at central presynaptic a2-adrenergic receptors to enhance noradrenergic and serotonergic activity.
Sleepiness or drowsiness Increased appetite Weight gain Dizziness
Brexanolone and zuranolone are medications approved for treatment of postpartum depression. They work on the GABAA receptors to regulate mood and behavior.
Sleepiness or drowsiness Dry mouth Passing out Flushing of the skin or face Dizziness Fatigue Diarrhea Common cold Urinary tract infection
It's important to recognize that postpartum depression is a complex and multifaceted condition that varies from person to person. Although the transition to parenthood can be challenging for many individuals, when symptoms persist and significantly impact daily functioning, it may indicate the presence of postpartum depression. Seeking professional help is crucial for diagnosis and treatment.
Frequently Asked Questions
How can I tell if I’m experiencing postpartum depression?
If you think you may have postpartum depression, it is important to speak with your provider. Your provider can provide a clinical assessment or utilize self-report tools, such as the Edinburgh Postnatal Depression Scale (EPDS) – a widely and reliably used screening tool for postpartum depression.15 Physicians are encouraged to screen for postpartum depression at the first postnatal obstetrical visit. If you or a loved one are experiencing symptoms of postpartum depression, follow-up with your provider to discuss diagnostic and treatment options.
Are these medications safe for me to take while breastfeeding?
It is recommended that patients who are currently breastfeeding, or planning on breastfeeding, should first speak with their provider to discuss the potential risks and benefits of different medication options. The decision to use antidepressants during postpartum while breastfeeding involves careful consideration of both the potential risks and benefits for both the parent and the baby.
Treating postpartum depression with antidepressants can improve parental mental health and reduces the risk for paternal self-harm or harm to their child. However, some medications can pass into breast milk.10-13 There is ongoing research regarding the long-term effects of antidepressant exposure during breastfeeding on infant development. While some studies have suggested potential concerns, the overall consensus is that the benefits of breastfeeding typically outweigh the potential risks for antidepressant exposure.
For example, sertraline and paroxetine have a better safety profile for infants during breastfeeding, but there is less available data for other serotonin reuptake inhibitors such as escitalopram and duloxetine.1,8 When taking fluoxetine, it is recommended to monitor infants for agitation, irritability, poor feeding, and poor weight gain.16 Research also indicates that zuranolone has potential risk for harm to the infant. It is recommended to use effective contraception during zuranolone treatment and for 1 week after the final dose.14
In many cases, the benefits of treating postpartum depression with antidepressants outweigh the potential risks, but it's important to carefully consider all factors and explore alternative treatments if appropriate.
When should I stop taking my medication?
It is important to consult your provider before discontinuing treatment. Discontinuation during pregnancy may increase your likelihood of a depression relapse, compared with individuals who continue antidepressants.11,12 However, if you experience new or worsening depression, anxiety, irritability, insomnia, mania, or suicidal thoughts and behavior, you should speak with your provider to determine if this is a side effect of your medication.
Newer postpartum depression medications such as Brexanolone and Zuranolone have specific durations of therapy. Zuranolone should only be taken once daily for 14 days while brexanolone is administered as a continuous infusion over 60 hours (2.5 days).13,14
You should stop taking your medication and seek immediate medical help if you experience a seizure or an allergic reaction such as development of skin rash, hives, chest pain, edema, and shortness of breath.
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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Our easy-to-read fact sheets provide clinicians with reliable information to share with patients and their caregivers.
Biomedical therapy for autism spectrum disorder (ASD) is becoming increasingly popular as a complementary treatment option to traditional medication regimes, yet many patients are still unclear about what biomedical therapy entails. Therefore, the following fact sheet provides a helpful overview of biomedical therapy for ASD and answers commonly asked questions.
Autism Spectrum Disorder
Autism spectrum disorder (ASD) is a neurodevelopmental disorder associated with impairment in social communication and interactions as well as the presence of restricted, repetitive behaviors.1 It is influenced by both genetic and environmental factors, though the direct cause is still unknown.2
The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, Text Revision (DSM-5-TR) is considered the gold standard for ASD diagnosis. The 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.2
Common Treatment Options for Autism
Because ASD occurs on a spectrum, treatment options can vary with each patient depending on their unique set of symptoms. There is no curative treatment for ASD, but the management of ASD takes on a multifaceted approach that includes occupational, behavioral, speech, and play therapies. Psychosocial interventions can also help improve specific behaviors, such as language and social engagement.3
Although there are no medications directly indicated for the treatment of ASD specifically, many individuals receive medication for comorbidities associated with their diagnosis. Patients with ASD may take medication for irritability, aggression, hyperactivity, and seizures that may co-present with the condition.2 Some examples of the common medications used to manage these other symptoms and disorders may include:4
Biomedical therapy is a specific treatment approach that considers the underlying biological basis of a condition and targets physiological impairment.5 The goal of biomedical therapy for autism is to optimize physiological factors impacting brain function and development to treat symptoms and improve patient functioning.
Research indicates that ASD is associated with deficits in mitochondrial metabolism and oxidative stress as well as abnormalities in the regulation of the following essential metabolites:6
Folate
Tetrahydrobiopterin
Glutathione
Cholesterol
Carnitine
Branch chain amino acids
Biomedical therapy can be categorized based on the pathophysiological process they target.
Mitochondrial Dysfunction
The mitochondria generate energy for cellular processes. When the mitochondria is impaired, it can lead to developmental delays, muscle weakness, and neurological problems.6 Individuals with ASD who have mitochondrial dysfunction often have more severe behavioral and cognitive deficits, relative to those with typical mitochondrial function. Treatments may include:6
Antioxidants, such as vitamin C and N-acetyl-L-cysteine
L-carnitine
Multivitamins containing vitamin B, vitamin E, co-enzyme Q10
Folate Metabolism
Folate is naturally found in the human body and helps to regulate the absorption of vitamin B. However, individuals with ASD may have genetic modifications in the folate pathway which leads to a decrease in available folate in the brain, known as cerebral folate deficiency. Lack of folate causes symptoms such as fatigue and muscle weakness. Patients with folate irregularity are treated with folinic acid for neurological, behavioral, and cognitive improvements.6
Redox Metabolism
Redox reactions are necessary for many biological functions. Evidence has shown that individuals with ASD may have abnormal redox metabolism which could lead to oxidative damage in areas of the brain responsible for speech, emotion, and social behavior. Several treatments for oxidative stress are available, including:6
Vitamin or mineral supplements containing antioxidants, co-enzyme Q10, and vitamin B
Subcutaneous injections of methylcobalamin (a form of vitamin B12)
Oral folinic acid
Tetrahydrobiopterin supplementation
N-acetyl-L-cysteine
These treatment options can help improve many common ASD symptoms, including hyperactivity, tantrums, sensory-motor skills, irritability, and even sleep and gastrointestinal symptoms.
Tetrahydrobiopterin Metabolism
Tetrahydrobiopterin (BH4) is naturally found in the body and is necessary for multiple important metabolic pathways. Abnormalities in BH4 are prominent in ASD, as the disorder is associated with a lack of oxidative stress needed for BH4 pathways. Treatment for BH4 metabolic dysfunction is primarily the use of sapropterin, a synthetic form of BH4. Sapropretin has been shown to improve cognitive ability, communication, adaptability, verbal expression, and social function in patients with ASD.6
Frequently Asked Patient Questions
At what stage should I consider biomedical therapy for autism?
Because ASD is a lifelong condition that occurs on a spectrum, there is no standard timeline for when a treatment should be started.7 Interventions are tailored to the patient’s specific needs. Although supplements are generally safe and well tolerated, they can have interactions with certain medications. Speak with your healthcare provider when making decisions on treatment options as it is important to keep track of your medications to monitor improvement and prevent adverse medication interactions.
How long does it take to see improvement?
When evaluating treatment success, it is important to consider what symptoms or conditions are being targeted. For example, some patients may be seeking treatment to sleep better or decrease their repetitive behaviors. Tracking progress by logging symptoms and improvements can help you and your provider gain an accurate measure of your treatment response. Improvements may not be seen immediately, especially as certain medications can take time to show measurable effects. Your symptoms may fluctuate over time, so consistent medication adherence is necessary to improve your chances of overall improvement.8
Are there side effects associated with these treatments?
All of the biomedical treatments mentioned throughout this fact sheet are generally considered safe and well-tolerated. However, there are minor side effects for some of these treatments, as detailed below:
Patients taking L-carnitine have expressed slight gastrointestinal issues. Symptoms such as nausea, vomiting, and abdominal cramps are usually experienced when the supplement is taken at night on an empty stomach. To minimize these symptoms, these supplements can be taken after a meal and your time of dosing can be adjusted.6
Some patients taking high-dose folinic acid may experience increased irritability, insomnia, or gastroesophageal reflux when co-administered with other medications, such as antipsychotics.6
Individuals taking N-acetyl-L-cysteine may experience mild side effects such as constipation, fatigue, daytime drowsiness, or increased appetite.6
Not all patients respond to treatment options in the same way. Patients should speak with their providers to discuss their treatment plan and any potential side effects they may experience.
