Continuing Education Activity

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by significant and persistent challenges in social communication, social interaction, and the presence of restricted, repetitive behaviors, interests, or activities. These symptoms appear in early childhood and vary in severity, creating a heterogeneous presentation across individuals. ASD affects critical areas of functioning, including social and occupational domains, and its impact is lifelong. Early recognition and intervention are essential to mitigate challenges, improve outcomes, and enhance the quality of life for individuals with ASD.

This educational activity provides healthcare professionals with the knowledge needed to understand the current guidelines for ASD assessment, diagnosis, and intervention. Participants also gain knowledge of the importance of early detection and evidence-based practices that address the diverse needs of individuals with ASD. The course emphasizes the value of interprofessional collaboration, where coordinated efforts among healthcare professionals, educators, therapists, and families contribute to more comprehensive care. By fostering shared decision-making and leveraging the expertise of diverse team members, healthcare professionals are better positioned to deliver tailored interventions, reduce the challenges associated with ASD, and promote meaningful improvements in patient outcomes.

Objectives:

• Differentiate between autism spectrum disorder and other neurodevelopmental conditions to ensure accurate diagnosis and tailored interventions.

• Screen for autism spectrum disorder using evidence-based tools and protocols in clinical practice to support early detection.

• Implement intervention strategies that align with current autism spectrum disorder guidelines to improve patient outcomes.

• Collaborate with an interprofessional team to improve care coordination and communication when implementing interventions for individuals with autism spectrum disorder.

Introduction

Autism spectrum disorder (ASD) is a multifaceted neurodevelopmental disorder. According to the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, Text Revision (DSM-5-TR), the diagnostic criteria for autism spectrum disorder are:

• Pervasive difficulties in social communication across multiple contexts, as manifested by all of the following, currently or by history:
  • Deficits in social-emotional reciprocity ranging from abnormal social approach and failure of normal back-and-forth conversation to reduced sharing of interests, emotions, or affect to a failure in initiating or responding to social interactions.
  • Deficits in nonverbal communicative behaviors used for social interaction, ranging from poorly integrated verbal and nonverbal communication to abnormalities in eye contact and body language or deficits in understanding and use of gestures to a total lack of facial expressions and nonverbal communication.
  • Deficits in developing, maintaining, and understanding relationships that ranges from difficulties adjusting behavior to suit various social contexts to difficulties in sharing imaginative play or making friends to the absence of interest in peers.
• Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at least 2 of the following, currently or by history:
  • Stereotyped or repetitive motor movements, use of objects, or speech (eg, simple motor stereotypies, lining up toys or flipping objects, echolalia, idiosyncratic phrases).
  • Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal behavior (eg, extreme distress at small changes, difficulties with transitions, rigid thinking patterns, greeting rituals, needing to take the same route or eating the same food every day).
  • Highly restricted, fixated interests that are abnormal in intensity or focus (eg, strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests).
  • Hyper- or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment (eg, apparent indifference to pain/temperature, adverse response to specific sounds or textures, excessive smelling or touching of objects, visual fascination with lights or movement).
• Symptoms must be present in the early developmental period (but may not fully manifest until social demands exceed limited capacities or may be masked by learned strategies in later life).
• Symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning.
• These disturbances are not better explained by intellectual developmental disorder (intellectual disability) or global developmental delay. Intellectual developmental disorder and ASD frequently co-occur. To make comorbid diagnoses of ASD and intellectual developmental disorder, social communication should be below that expected for the general developmental level.

An important aspect of the DSM-5-TR diagnostic criteria is the use of specifiers of current severity, level of intellectual impairment, level of language impairment, association with known genetic or medical conditions or environmental factors, and if comorbid catatonia is present, allowing the clinician to communicate a more detailed clinical description when diagnosing ASD.[1] See Image. Severity Specifiers for Autism Spectrum Disorder, Table. The diagnosis of ASD replaces a spectrum of conditions such as autistic disorder, Asperger disorder, and pervasive developmental disorder not otherwise specified that were previously diagnosed separately in the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision (DSM-IV-TR).

According to the Centers for Disease Control and Prevention, 15% to 20% of the world's population exhibits some form of neurodivergence.[2] Neurodiversity refers to the diversity of minds and brains in the world, as each individual is unique, and there is no single "right" way of thinking.[3] The term neurodiversity is often used for neurological and developmental conditions such as ASD, attention-deficit/hyperactivity disorder, and learning disabilities to describe non-pathological variations in the function of human brains. Neurodivergent individuals are frequently stigmatized and devalued. Neurodiversity embraces the concept that differences need not be viewed as deficits.[4]

Although healthcare professionals often use person-first language, such as "individual with autism," many adults with autism prefer identity-first language, such as "autistic person." Healthcare professionals should use the patient's preferred language.[5] Parents and families with children diagnosed with ASD confront numerous challenges—social isolation, emotional frustrations, strained relationships, and financial burdens. The rate of ASD in siblings is higher, especially in monozygotic twins.[6] Significant barriers to care exist for individuals with autism, and clinicians need to have a framework to facilitate care. One such framework is the SPACE (sensory, predictability, acceptance, communication, empathy) model, which addresses 5 core autistic needs:

• Sensory needs: Sensory sensitivities are common for people with autism, and sensory issues can make healthcare environments inaccessible. Sensory overload in a medical environment can lead to involuntary shutdowns or meltdowns.
• Predictability: Autistic individuals need routine and structure and may experience extreme anxiety with change or new experiences.
• Acceptance: Stigma and stereotypes are damaging to people with autism, who require understanding, a holistic approach, and appropriate accommodations.
• Communication: When stressed, people with autism may experience challenges with verbal communication and may do better with augmentative and alternative communication methods such as writing or using electronic devices.
• Empathy: Autistic people may experience hyper-empathy, leading to shutdown. Healthcare professionals may find the perspective of the autistic person challenging.[7] 

Etiology

ASD is a neurodevelopmental condition most likely caused by the interplay between genetic predispositions and environmental factors. Uncertain underlying pathways may involve immune dysregulation, mitochondrial dysfunction, oxidative stress, gut microbiome alterations, and hormonal disturbances.[8]

Genetic causes and modifiers of ASD include the following mechanisms:

• Monozygotic twins, siblings, and families have a high concordance of ASD, which suggests a significant genetic component, with heritability estimated to be about 50%.[8]
• The etiology of ASD is multigenic and heterogeneous; hundreds of risk genes have been identified.[9]
• Individuals with similar gene variations can have very different phenotypes.[9]
• Two broad classes of proteins are involved: those involved in synapse formation and those involved in transcriptional regulation and chromatin remodeling.[9]
• Other genetic contributions to ASD may include de novo gene variations, somatic mosaicism, and higher copy number variations (CNVs), which account for approximately 10% of ASD cases. Significant CNVs implicated in ASD are 16p11.2 and 15q11-13; however, these are only present in 1% of autism cases.[9]
• Genes with epigenetic-modulating functions are involved in ASD susceptibility. Affected pathways could include synaptic transmission, immune function, ion transport, and gamma-aminobutyric acid-ergic genes.[9]
• Overlap exists between the genetic underpinnings of ASD and other neuropsychiatric disorders, including schizophrenia, attention-deficit/hyperactivity disorder,  intellectual disability, and bipolar disorder.[9]
• Potential genetic modifiers can significantly alter the presentation of ASD. One explanation is the presence of second modulating variants that may interact with other susceptibility loci in a "second hit." These can be caused by additional CNVs or small nucleotide repeats and indels.[9]
• There is no certainty as to why there are lower rates of ASD in females. Various theories are that females may inherently possess protective factors, that males are more vulnerable, or females have different features of ASD.[9]

Environmental and perinatal factors associated with ASD:

• Numerous robust scientific studies have found no links between vaccines and autism. The components of the vaccines (thimerosal or mercury) or multiple vaccines, such as the mumps-measles-rubella vaccine, are not associated with the development of autism or autism spectrum disorder.[10][11][12]
• Prenatal exposure to rubella, influenza, or cytomegalovirus infections and fevers during pregnancy are associated with ASD.[8]
• Gestational diabetes and maternal obesity are established risk factors for ASD.[8]
• Maternal use of serotonin reuptake inhibitors or other antidepressants may be linked to ASD. This association is attenuated when controlled for pre-existing psychiatric conditions, however.[8]
• Maternal antibiotic use may increase the likelihood of ASD.[8]
• Prenatal exposure to phthalates, air pollutants, and heavy metals such as lead and mercury may increase the likelihood of ASD. Pesticides may also be implicated in ASD.[8]
• There may be connections between ASD and advanced maternal or paternal age, assisted reproductive technologies, maternal nutritional status, and use of valproic acid or other antiepileptic medications, highlighting the multifactorial nature of ASD. [13]

Epidemiology

Changes over time in how autism is characterized confound epidemiological estimates of the prevalence of ASD. The term "autism" was coined by Eugen Bleuler in 1911 to describe the extreme social withdrawal and self-centeredness sometimes present in patients with schizophrenia. Leo Kanner used the term autism in 1943 to describe children who had language abnormalities, then later hypothesized that extreme self-isolation and insistence on sameness were core features of the syndrome.[14][15] In 1944, Hans Asperger described children with social deficits and above-average language skills.[14] Asperger syndrome would eventually be included with autistic disorder, Rett syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified as subtypes of pervasive developmental disorder in the DSM-IV, published in 1994.[16] Historians of child psychiatry have since brought to light Asperger collusion with the Nazis in identifying children for child euthanasia, and his work has been discredited.[17]

Questioning the validity of childhood disintegrative disorder and recognizing Rett syndrome as a separate entity, in 2013, the DSM-V replaced pervasive developmental disorder with autism spectrum disorder and abandoned the not-otherwise specified designation. Today's autism spectrum disorder is defined by a single set of categorical criteria within the domains of communication deficits and repetitive behaviors.[18] ASD has a heterogeneous prevalence globally, and rates in each country are influenced by diagnostic methods, the populations surveyed, and the resources available.[19] One of the first prevalence estimates for autism was published in 1967 and was based on a study of English children aged 8, 9, and 10. The survey showed that 4.5 children per 10,000 had "autistic conditions of early childhood."[20] A recent global meta-analysis showed a pooled prevalence of ASD of 1.01% in North America, 0.73% in Europe, and 0.41% in Asia. The highest prevalence was in the United States (1.12%), Sweden (0.90%), and Denmark (0.73%). The lowest prevalence was in Taiwan (0.11%), France (0.32%), and China (0.42%). The global point-prevalence of ASD increased from 0.25% from 1994 to 1999 to 0.99% from 2015 to 2019.[21]

According to the Centers for Disease Control and Prevention, in 2020, approximately 1 in 36 children aged 8 years in the United States was diagnosed with ASD, approximately 4% of boys and 1% of girls.[2] Girls with autism may be underdiagnosed or misdiagnosed and only diagnosed later. The proportion of girls diagnosed with autism increased steadily from 2000 to 2021, which may also reflect the recognition that autism may manifest differently in girls and women.[22] Although overall ASD prevalence was 50% higher in the past in White children than among Black or Hispanic children, this gap has narrowed as the identification of ASD has become more equitable.[2]

Pathophysiology

Even with extensive research, the pathophysiology of ASD continues to be elusive, although there is a complex genetic component to the disorder. The most validated hypotheses are the impairment of neural connectivity and damaged synaptogenesis, in which the increased number of neurons in autistic individuals may impair shaping and fine-tuning neural circuits. Other hypotheses are impaired neural migration, impaired synaptogenesis and dendritic morphogenesis, excitation-inhibition imbalance, the broken mirror neuron theory, impaired immunity and neuroinflammation, and the role of epigenetics.[23]  

Neuroimaging studies of people with ASD often reveal variations in brain size, gray and white matter structures, and differential neural pathways; however, a pattern of alterations consistent with ASD has not yet been identified. The brain changes in ASD show an abnormal growth trajectory, with early overgrowth followed by regression.[24] Environmental factors might contribute up to 50% of the risk variance in ASD. These factors include advanced parental age, preterm birth, delivery complications, and exposure to toxic metals, drugs, air pollutants, and endocrine-disrupting chemicals.[25]

History and Physical

The American Academy of Pediatrics (AAP) updated its report, "The Identification, Evaluation, and Management of Children with Autism Spectrum Disorder" in 2020 to reflect current evidence-based recommendations.[6] The AAP recommends screening all children for ASD, as early intervention may influence outcomes. Screening identifies language, cognitive, and motor delays.[6][26] Diagnosing ASD involves identifying and reporting behavioral clinical symptoms using the DSM-V-TR diagnostic criteria. A clinician trained to diagnose ASD using these criteria can integrate historical information and objective observation.[6]

An evaluation for ASD should include the following:

• Comprehensive past medical, developmental, social, and family history (with attention to factors that can affect child development, such as prematurity, trauma history, exposure to teratogens, and family history of developmental problems)
• Complete physical examination (including growth parameters, detailed neurological examination, and any dysmorphic features or skin manifestations of neurocutaneous disorders)
• Hearing and vision tests
• A structural behavioral observation (which requires specific training)[6]

Using questionnaires such as the Social Communication Questionnaire or Social Responsiveness Scale to structure the interview can help obtain a history of symptoms of ASD.[6] In some research settings, the Autism Diagnostic Inventory-Revised is a lengthy parent interview used to document behaviors associated with ASD. Two validated observation tools that can provide structured data to confirm a clinical diagnosis of ASD are the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) and the Childhood Autism Rating Scale, Second Edition. The ADOS-2 requires specialized training to administer and score.[6] 

Red flags for early symptoms of ASD include not responding to their name by 12 months, not pointing at objects to show interest by 14 months, and not "pretend playing" by 18 months. General red flags are: avoids eye contact and may want to be alone, has trouble understanding other people's feelings or talking about their feelings, delayed speech and language skills, repeating words or phrases over and over, giving unrelated answers to questions, getting upset by minor changes, obsessive interests, making repetitive movements, or having unusual reactions to sensory stimuli.[6]

Evaluation

There are no laboratory tests or clinical imaging studies that can be used to make a diagnosis of ASD.[6] Consideration should be given to referral for pediatric genetic evaluation.[6] If there is a clinical indication, the healthcare professional should consider ordering the following:

• Plasma amino acid levels
• Urine organic acid levels
• Acylcarnitine metabolite levels
• Other testing for specific metabolic disorders
• Liver and thyroid function tests
• Lead levels
• Neuroimaging studies if there are atypical regression, micro- or macrocephaly, seizures, an abnormal neurological examination, or cranial abnormalities
• Electroencephalogram if there are seizures, atypical regression, loss of language, or other neurological symptoms [6] 

Treatment / Management

Autism spectrum disorder is a complex condition requiring an individualized and comprehensive approach tailored to each child and adult's age and specific strengths and weaknesses. The life course of neurodivergent individuals can be challenging, and autism can be conceptualized as a disability or as a set of unique skills that can be viewed as strengths.[4] In the United States, laws such as the No Child Left Behind Act of 2001, the Individuals with Disabilities Education Improvement Act of 2004, and the Every Student Succeeds Act of 2015 ensure that children with developmental delays, including ASD, can access free and evidence-based interventions. 

Focused Intervention Practices for ASD

According to the Evidence-Based Practices for Children, Youth, and Young Adults with Autism: Third Generation Review,[27] there are 2 broad classes of interventions in the research literature. Focused intervention practices address specific learner outcomes and individual learner goals. Comprehensive program models are manualized sets of practices that focus on a breadth of outcomes over time.[27]

Interventions may be provided through early intervention services, schools, non-profit agencies, or public agencies, and differ in theoretical approach and scope. Characteristics of evidence-based interventions include assessment, setting goals, shared decision-making, trained clinicians, individualized services and support, a structured learning environment, social opportunities, behavioral management, measures of progress, family support, and transition planning.[6]

There are 28 focused intervention practices that meet the criteria for evidence-based practice, addressing 13 different outcomes in the 3 age groups reviewed:

• Antecedent-based interventions for academic/pre-academic, adaptive/self-help, challenging/interfering behavior, communication, mental health, play, school readiness, and social outcomes
• Augmentative and alternative communication for academic/pre-academic, challenging/interfering behavior, communication, joint attention, mental health, motor, play, and social outcomes
• Behavioral momentum intervention for academic/pre-academic, adaptive/self-help, challenging/interfering behavior, communication, play, school readiness, and social outcomes
• Cognitive behavioral/instructional strategies  for academic/pre-academic, adaptive/self-help, challenging/interfering behavior, cognitive, communication, mental health, school readiness, self-determination, and social outcomes
• Differential reinforcement of alternative, incompatible, or other behavior for academic/pre-academic, adaptive/self-help, challenging/interfering behavior, communication, joint attention, motor, play, school readiness, and social outcomes
• Direct instruction for academic/pre-academic, cognitive, communication, and school readiness outcomes
• Discrete trial training for academic/pre-academic, adaptive/self-help, challenging/interfering behavior, cognitive, communication, joint attention, play, school readiness, self-determination, social, and vocational outcomes
• Exercise and movement for academic/pre-academic, adaptive/self-help, challenging/interfering behavior, cognitive, communication, motor, play, school readiness, and social outcomes
• Extinction for adaptive/self-help, challenging/interfering behavior, communication, joint attention, school readiness, and social outcomes
• Functional behavioral assessment for academic/pre-academic, adaptive/self-help, challenging/interfering behavior, communication, and school readiness outcomes
• Functional communication training for adaptive/self-help, challenging/interfering behavior, cognitive, communication, play, school readiness, and social outcomes
• Modeling for academic/pre-academic, adaptive/self-help, challenging/interfering behavior, communication, motor, play, school readiness, social, and vocational outcomes
• Music-mediated intervention for adaptive/self-help, challenging/interfering behavior, communication, motor, play, school readiness, social, and vocational outcomes
• Naturalistic intervention for academic/pre-academic, adaptive/self-help, challenging/interfering behavior, cognitive, communication, joint attention, mental health, motor, play, school readiness, and social outcomes
• Parent-implemented intervention for academic/pre-academic, adaptive/self-help, challenging/interfering behavior, cognitive, communication, joint attention, mental health, motor, play, school readiness, and social outcomes
• Peer-based instruction and intervention for academic/pre-academic, challenging/interfering behavior, cognitive, communication, joint attention, mental health, play, school readiness, and social outcomes
• Prompting for academic/pre-academic, adaptive/self-help, challenging/interfering behavior, cognitive, communication, mental health, school readiness, self-determination, and social outcomes
• Reinforcement for academic/pre-academic, adaptive/self-help, challenging/interfering behavior, cognitive, communication, joint attention, motor, play, school readiness, social, and vocational outcomes
• Response interruption/redirection for academic/pre-academic, adaptive/self-help, challenging/interfering behavior, communication, motor, play, school readiness, and social outcomes
• Self-management for academic/pre-academic, adaptive/self-help, challenging/interfering behavior, communication, play, school readiness, self-determination, social and vocational outcomes
• Sensory integration for academic/pre-academic, adaptive/self-help, challenging/interfering behavior, cognitive, communication, motor, and social outcomes
• Social narratives for academic/pre-academic, adaptive/self-help, challenging/interfering behavior, communication, joint attention, play, school readiness, and social outcomes
• Social skills training for adaptive/self-help, challenging/interfering behavior, cognitive, communication, mental health, play, school readiness, self-determination, and social outcomes
• Task analysis for academic/pre-academic, adaptive/self-help, communication, joint attention, motor, play, social, and vocational outcomes
• Technology-aided instruction and intervention for academic/pre-academic, adaptive/self-help, challenging/interfering behavior, cognitive, communication, joint attention, mental health, motor, play, school readiness, social, and vocational outcomes
• Time delay for academic/pre-academic, adaptive/self-help, challenging/interfering behavior, cognitive, communication, joint attention, motor, play, school readiness, social, and vocational outcomes
• Video modeling for academic/pre-academic, adaptive/self-help, challenging/interfering behavior, cognitive, communication, joint attention, motor, play, school readiness, social, and vocational outcomes
• Visual supports for academic/pre-academic, adaptive/self-help, challenging/interfering behavior, cognitive, communication, joint attention, motor, play, school readiness, social, and vocational outcomes [27]

Examining the efficacy of interventions in realistic educational settings by teachers, speech and language pathologists, and psychologists is crucial for future research to determine which practices are evidence-based.[27]

Pharmacological Interventions for ASD

No present medications rectify the core symptoms of ASD. Physical sources of discomfort, such as dental pain, reflux, otitis media, and fracture, should always be considered when there is a behavior change. Psychiatric diagnoses such as attention-deficit/hyperactivity disorder, anxiety, obsessive-compulsive disorder, mood disorders, and conduct disorders occur in 70% to 90% of children and adolescents with ASD, and medications are used to help manage those disorders. When behavioral interventions are insufficient to address significant challenges, such as aggression, self-injurious behavior, insomnia, or lability, and any medical conditions have been treated, psychotropic medications can be considered.[6]

Options for common target symptoms are:

• Hyperactivity, impulsivity, inattention, and distractibility: psychostimulants, atomoxetine, clonidine, guanfacine, and atypical antipsychotic medications
• Irritability and severe disruptive behavior (aggression, self-injury, property destruction): atypical antipsychotic medications, clonidine, guanfacine, serotonin reuptake inhibitors (SRIs), valproic acid, and venlafaxine
• Repetitive behavior: atypical antipsychotic medications, valproic acid, and SRIs
• Anxiety and depression: SRIs, clonidine, guanfacine, and atypical antipsychotic medications [6]

The risks and benefits of prescribing medications should be carefully weighed, and informed consent should be obtained. Psychotropic medications should be used as part of a comprehensive, multi-faceted approach to challenging symptoms of ASD.[6]

Differential Diagnosis

ASD is a complex neurodevelopmental disorder that can sometimes be confused with other conditions due to overlapping symptoms. A thorough evaluation is essential to differentiate ASD from other disorders, such as:

Genetic Syndromes

• Tuberous sclerosis complex: This is characterized by benign tumors in multiple organs, skin manifestations, seizures, and cognitive deficits.
• Fragile X syndrome: This disorder is often associated with intellectual disability and characteristic physical features.
• Chromosome 15q11-q13 duplication syndrome: This condition may include hypotonia, joint laxity, developmental delays, and speech delay.
• Angelman syndrome: This is a neurodevelopmental disorder characterized by severe intellectual disability, postnatal microcephaly, and movement or balance problems.
• Rett Syndrome: This condition is predominantly in females and is characterized by loss of speech and stereotypic hand movement.
• Neurofibromatosis type 1: This condition is characterized by skin manifestations and neurofibromas.
• Down syndrome: Characteristics of this condition include specific dysmorphic features, intellectual disability, and other associated medical conditions.
• Noonan syndrome: This syndrome is associated with short stature, congenital heart disease, and delayed development.
• Williams-Beuren syndrome: Features of this condition include distinct facial characteristics, cardiovascular issues, and developmental delays.
• DiGeorge (22q11.2 deletion) syndrome: This condition presents with cardiac anomalies, hypoplastic thymus, and hypocalcemia.
• Smith-Lemli-Opitz syndrome: This is an autosomal recessive disorder of cholesterol biosynthesis with various clinical features.
• Timothy syndrome: This syndrome is characterized by syndactyly, congenital heart disease, and cognitive abnormalities.
• Joubert syndrome: Features of this condition include hypoplasia of the cerebellar vermis, neurological symptoms, and renal anomalies.[6][28]

Environmental and Metabolic Conditions

• Heavy metal poisoning, especially mercury and lead
• Aminoacidurias
• Hypothyroidism
• Organophosphate exposure
• Seizure disorders, especially atypical seizures [6]

Psychiatric Disorders

According to the DSM-5-TR, the following disorders are part of the different diagnoses for ASD:

• Attention-deficit/hyperactivity disorder 
• Intellectual developmental disorder
• Language disorders and social (pragmatic) communication disorder
• Selective mutism
• Stereotypic movement disorder
• Rett syndrome
• Anxiety disorders
• Obsessive-compulsive disorder
• Schizophrenia
• Personality disorders
• Mood disorders

Rare Conditions

• Glycogen storage disorders [29]
• Autoimmune encephalitis [30]

In the diagnostic process, it is crucial to consider the patient's full clinical picture and history. While many of these conditions may overlap with symptoms of ASD, a comprehensive evaluation will help make a definitive diagnosis.

Prognosis

The prognosis of ASD varies significantly among individuals, making it challenging to predict outcomes, especially at the time of diagnosis. While some children may exhibit improvements in core symptoms, 9 out of 10 children diagnosed with ASD who are younger than 6 years of age continued to meet the criteria for ASD a year or more later, but the evidence for this is not robust.[31] Favorable prognostic factors include higher cognitive skills at 2 years of age, participation in earlier intervention services, decreased repetitive behaviors, increased tested verbal intelligence quotient, and the presence of family and community supports.[6] Executive function difficulties are associated with poorer outcomes.[6] ASD is associated with a significantly increased risk of all-cause mortality, including ending one's own life.[32][33]

Complications

Physical sources of discomfort and medical conditions should always be considered when behavior changes occur.[6] Individuals with ASD experience a higher burden of medical and psychiatric conditions. In one study, the results showed that 74% of individuals with autism had at least one comorbidity.[34] People with ASD may have atypical symptoms, making the recognition of other diagnoses more difficult.[34]

Cooccurring conditions affecting people with ASD include sleep disorders; a range of neurological disorders, including epilepsy, macrocephaly, hydrocephalus, cerebral palsy, migraine/headache, and inborn abnormalities of the nervous system; obesity; other psychiatric diagnoses such as attention-deficit/hyperactive disorder, anxiety, and mood disorders; encopresis; enuresis; and behavioral disorders such as food refusal, self-injury, and aggression. Of children with ASD, about 30% will have intellectual disabilities, and 30% are minimally verbal.[6][34][35] Disruptive behaviors such as wandering, tantrums, self-injury, and aggression in home and community settings may complicate outcomes for individuals with ASD.[6]

Consultations

Consideration should be given to referral for pediatric genetic evaluation.[6] ASD often co-occurs with other conditions such as motor abnormalities (79%), gastrointestinal problems (up to 70%), epilepsy (up to 30%), intellectual disability (45%), and sleep disorders (50%–80%) and may require referral to neurology, gastroenterology, or pulmonology/sleep medicine.[36] Regular check-ins with specialists such as developmental pediatricians, child neurologists, psychologists, and psychiatrists can be invaluable. These specialists can monitor progress, provide behavioral guidance, and address medical or psychological concerns.

Deterrence and Patient Education

People with ASD have difficulty accessing comprehensive, coordinated services for their healthcare needs.[6] Parents and families who have members diagnosed with an autism spectrum disorder face many challenges, including social isolation, frustration, strained relationships, and financial difficulties. Helpful strategies include family-centered and coordinated care through a medical home model in which the primary care clinician partners with individuals and family members in planning and advocating for their needs.[6] The medical home model also incorporates using the clinician's therapeutic alliance with patients with ASD to help them understand their diagnosis and remind them of their strengths.[6] 

The shared decision-making process is collaborative, with dialogue among the individual, caregivers, and providers. Shared decision-making is particularly important when there is no accepted, evidence-based approach to a question.[6] Strengthening protective factors such as increasing parents' communication and behavioral management skills and providing psychoeducation to promote understanding of their family member's condition and challenges is crucial. Other helpful strategies include connecting with others in similar situations, developing alliances, caring for oneself, and becoming an advocate. Recommendations for healthcare professionals include understanding the common problems parents face, building parent-to-parent connections, and encouraging a good relationship with parents and their children.[37][38]

Pearls and Other Issues

Flexibility should be the standard of care, and healthcare delivery methods should meet the needs of individual patients.[5] Physical sources of discomfort and medical conditions should always be considered when there is a change in behavior.[6] Although healthcare professionals often use person-first language, such as "individual with autism," many adults with autism prefer identity-first language, such as "autistic person." Healthcare professionals should use the patient's preferred language.[5] Results from numerous robust scientific studies have found no links between vaccines and autism. The components of the vaccines (thimerosal or mercury) or multiple vaccines, such as the mumps-measles-rubella vaccine, are not associated with the development of autism or autism spectrum disorder.[10][11][12]

Enhancing Healthcare Team Outcomes

People with ASD have difficulty accessing comprehensive, coordinated services for their healthcare needs and report greater unmet medical and psychiatric needs and higher financial burdens. The American Academy of Pediatrics recommends a medical home model in which primary care provides the structure for clinicians to collaborate with patients and families for accessible, comprehensive, family-centered, coordinated, compassionate, and culturally sensitive care. The medical home model results in fewer unmet needs.[6]

Interprofessional collaboration between clinical, community, and educational settings is essential to promote integrated and comprehensive care. The World Health Organization states that interprofessional collaboration occurs "when multiple health workers from different professional backgrounds work together with patients, families, carers, and communities to deliver the highest quality of care."[39] Further, school psychologists are frequently involved in evaluating learners when outside professionals such as developmental-behavioral pediatricians, psychologists, psychiatrists, neuropsychologists, or neurologists formulate a diagnosis of ASD. According to Gardner and colleagues in Identification of Autism Spectrum Disorder and Interprofessional Collaboration between School and Clinical Settings (2021), once a diagnosis of ASD is made, applied behavior analysts, speech-language pathologists, occupational therapists, teachers, and other professionals can optimize outcomes by delivering care in intentionally created work groups with shared responsibility for the learner.