Autism spectrum disorder: Clinical sciences

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Introduction0:00–0:52

Autism spectrum disorder, or ASD for short, is a neurodevelopmental condition characterized by deficits in social communication as well as patterns of restricted and repetitive behavior.
Autism is considered a spectrum disorder due to the wide variability in the traits, behaviors, and degree of disability that individuals can experience.
Autism is thought to be caused by a combination of genetic and environmental factors that result in altered neural connectivity and atypical brain development.
Children with autism who are identified early and receive timely evaluation are more likely to benefit from intervention services, which ensure better developmental outcomes, including improvements in communication and functional skills.Now, when a pediatric patient presents with a chief concern suggesting autism spectrum disorder, your first step is to obtain a focused history and physical exam.

H&P0:52–2:35

Caregivers commonly report that their child appears socially disengaged and does not communicate or interact with others in typical ways.
For instance, many caregivers notice that their child has poor eye contact. The child may also perform repetitive movements, like hand flapping or body rocking, as a means of self-soothing.
They may also lack flexibility and adaptability, so disrupted routines or unexpected changes often cause significant distress.
Risk factors for ASD include prematurity, low birth weight, and certain genetic conditions, such as fragile X syndrome, which is the most common genetic cause, and Rett syndrome.
It’s also important to note that autism is highly inheritable, so be sure to ask if there’s a family history of ASD. Although the physical exam is often unremarkable, some patients may have macrocephaly or low weight-for-age.Now, here’s your first clinical pearl!
ASD is frequently underdiagnosed or diagnosed late, especially in biologically female children, ethnic minorities, such as African American and Hispanic children, as well as in those with low socioeconomic status and children from non-English-speaking families.
For this reason, pay close attention when any social, behavioral, or developmental concerns arise in these groups.If you see these history and exam findings, your next step is to administer a developmental screening tool that includes specific questions about ASD.

Developmental screening2:35–3:29

These questionnaires rely on caregiver reports of the child’s observed behaviors, and results can identify various types of developmental delay.
Screening results that suggest a social communication delay, with or without cognitive, language, or motor delays, should lead you to suspect ASD.Here’s a clinical pearl to keep in mind!
Patients are routinely screened for ASD during the 18- and 24-month well-child visits. A toddler with a positive autism screen may benefit from an additional evaluation for ASD and other developmental delays, even if the caregivers’ history reveals no concerns.Once you suspect ASD, your next step is to arrange for a comprehensive neurodevelopmental evaluation.

Comprehensive evaluation3:29–5:42

This evaluation will determine whether the patient meets the diagnostic criteria for autism spectrum disorder. It will also assess developmental strengths and weaknesses and identify specific needs that can be addressed through personalized interventions.
The comprehensive neurodevelopmental evaluation includes a developmental and behavioral history; direct observation of behavior; cognitive, language, and motor testing; and assessments of vision and hearing.
Now, the comprehensive neurodevelopmental evaluation will likely demonstrate deficits in social communication and interaction, as well as restricted and repetitive patterns of behavior and interests.
Moreover, ASD-specific social communication characteristics include difficulties with both verbal and nonverbal language.
Individuals with autism often display limited social-emotional reciprocity, which manifests as difficulty maintaining conversations due to a lack of interest, poor insight into other people’s thoughts and feelings, poor eye contact, speaking in a monotone voice without inflections, and having unusual facial expressions.
Next, individuals with autism display restricted behaviors due to atypical sensory processing. This may manifest as indifference to pain or temperature, or hypersensitivity to light, sounds, or textures, which causes intense focus on sensory aspects of the environment.
Additionally, some common repetitive behaviors or movements include hand flapping or body rocking, as well as echolalia, which is the frequent repetition of a word or phrase, and hyperfixation, which is an intense interest in a specific topic like trains, animals, or outer space.
Some children could also present with deficits in cognitive, language, or motor skills; or even visual or hearing impairment.
With these findings, you can diagnose ASD.Now, once you diagnose ASD, you should implement an interdisciplinary approach in order to manage the child’s specific needs.

Interdisciplinary approach5:42–8:45

To ensure comprehensive care, coordinate and provide all of your patient’s care through a medical home, if possible. This will facilitate effective communication among all team members.Next, most children with autism will require various types of therapy, including behavioral, speech and language, and occupational therapy.
The goal of therapy is to hone the child’s social and communication skills, maximize functioning, and improve quality of life.
Behavioral therapy uses behavioral management techniques to positively reinforce new skills and discourage maladaptive behaviors.
Speech and language therapy aims to develop verbal communication skills and may include augmentative strategies like utilizing pictures, gestures, or electronic systems to facilitate communication.
Finally, occupational therapy will help your patient strengthen their practical motor skills during common activities like using utensils, dressing, writing, and typing.Next, school-age children will likely benefit from educational interventions and support.
Tailor educational interventions to the child’s age and developmental level, to promote academic, adaptive, and social skill development within the least restrictive educational setting possible.
This often includes a high teacher-to-student ratio, an orderly classroom environment, a predictable schedule, and clear expectations, with access to support when needed.Finally, you should consider the needs of the family, since caregivers can have the greatest impact on supporting a child with ASD.
Provide caregivers with education about autism diagnosis and treatment options, and connect them to resources such as support groups for families.
Lastly, discuss and offer basic genetic workup to assess for associated genetic syndromes to all families. All patients should get fragile X testing and chromosomal microarray, while biological females should also get MECP2 tested for Rett syndrome.
And here’s a final clinical pearl! ASD frequently co-occurs with other medical conditions like seizure disorders!
Additionally, compared to their peers, children with autism are more likely to have psychological and behavioral disorders like anxiety, depression, and attention deficit hyperactivity disorder.
Children with autism commonly experience other challenges, including gastrointestinal and feeding problems, as well as sleep difficulties.
It is important to identify and treat these other conditions as part of an effective and comprehensive care plan. Alright, as a quick recap… Autism spectrum disorder is a neurodevelopmental condition that impacts social communication and behavior.

Review8:45–9:41

When assessing a child for autism, obtain a focused history and physical exam, and then administer a developmental screening tool that includes autism-specific questions.
If history and screening suggest a social communication delay, you should suspect ASD and proceed with a comprehensive neurodevelopmental evaluation.
If the evaluation reveals deficits in social communication and interaction; as well as restricted and repetitive patterns of behavior and interests; diagnose autism spectrum disorder.
Finally, coordinate an interdisciplinary approach to treatment through the medical home, which typically includes behavioral, speech and language, and therapies, as well as educational and caregiver support.