Approach to neurodevelopmental disorders: Clinical sciences

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Introduction 0:00–0:56

Neurodevelopmental disorders are conditions characterized by early childhood developmental delays and deficits, which can affect personal, social, academic, or occupational functioning.
The severity of neurodevelopmental disorders varies widely. Some patients do well with the right support and can take part in family, school, and community life, while others have more severe challenges and need full-time assistance.
It’s important to identify these disorders as early as possible because the sooner help begins, the better the outcome. Now, major types of neurodevelopmental disorders include autism spectrum disorder, attention deficit hyperactivity disorder or ADHD, Tourette syndrome, and intellectual disability.
When a patient presents with a chief concern suggesting a neurodevelopmental disorder, your first step is to obtain a focused history and physical exam.

H&P 0:56–1:53

Most patients present in early childhood, and caregivers commonly have concerns about the child’s development or behavior.
Many of these children have already been diagnosed with one or more developmental delays, such as motor or language delays.
They might also have been diagnosed with genetic conditions like fragile X or Rett syndrome. The physical exam is typically unremarkable unless the patient has distinct phenotypic features due to an underlying genetic syndrome.
For example, with fragile X syndrome, the patient might have narrow long facies, with large ears; while those with Rett syndrome have a characteristic hand wringing.
If you see these findings, consider a neurodevelopmental disorder. To identify the specific condition you are dealing with, you’ll need to investigate further.

Autism 1:53–4:01

Start by assessing for social disengagement, a key feature of autism spectrum disorder, or ASD. If social disengagement is present as a primary concern for your patient, expand your history to ask specifically about signs and symptoms of autism.
Caregivers commonly report that the child appears disinterested in social interactions and does not communicate or interact with others in typical ways.
For instance, the patient may not respond to direct questions or engage in back-and-forth conversations. They may have limited use of nonverbal body language, with poor eye contact, monotone voice, or flat facial expressions.
The patient may also perform repetitive movements, like hand flapping or body rocking; and lack flexibility and adaptability, so disrupted routines or unexpected changes often cause significant distress.
Additionally, patients with ASD frequently have sensory sensitivities and may appear fascinated with or repelled by sensory aspects of the environment, such as lights, sounds, and textures.
Finally, ask about risk factors for ASD, which include prematurity, low birth weight, certain genetic conditions, such as fragile X and Rett syndromes, and a family history of ASD.
With this classic history, you should consider ASD and assess your patient using the DSM-5 criteria. To diagnose ASD, the patient must demonstrate deficits in social communication and interaction, as well as restricted and repetitive patterns of behavior and interests.
The onset of this behavioral pattern must be during early childhood, typically before 3 years old. Additionally, the patient’s symptoms must impair academic, social, or adaptive functioning to be considered disordered.
If these criteria are present, diagnose ASD. Alright, if social disengagement is not a primary concern, your next step is to assess for impulsivity or distractibility, key features of attention deficit hyperactivity disorder, or ADHD.

ADHD 4:01–7:21

In this case, caregivers and teachers commonly report excessive levels of either hyperactivity, inattention, or both. These patients often show academic underachievement, poor emotional regulation, and delayed social and play skills.
The history may also reveal risk factors for ADHD, such as prematurity, low birth weight, or adverse childhood experiences.
Lastly, ask about family history, which often reveals one or more family members with ADHD. With these findings, you should consider attention deficit hyperactivity disorder, and then assess if your patient meets the DSM-5 criteria for ADHD.
First, assess if your patient has symptoms related to hyperactivity and impulsivity. Hyperactive symptoms include excessive talking, the inability to play quietly, constant fidgeting, difficulty remaining seated, difficulty staying still, and appearing to be on the go.
Impulsive symptoms include blurting out answers before being called on, having difficulty taking turns, and interrupting others frequently.
If your patient displays 6 or more of these symptoms, they are positive for hyperactivity and impulsivity. Next, evaluate for symptoms related to inattention.
These include difficulty sustaining attention, avoidance of tasks that require focus, high distractibility, forgetfulness, poor organizational skills, and lack of attention to detail.
Additionally, these patients often appear as if they are not listening, even when spoken to directly; they may frequently fail to complete tasks; and tend to lose important items and belongings.
If your patient displays 6 or more of these symptoms, they are positive for inattention. To diagnose ADHD, the patient must screen positive for hyperactivity and impulsivity, or inattention, or both.
Their symptoms must have started before 12 years of age and must be present for more than six months, in at least two settings, such as home and school.
Finally, these symptoms must be severe enough to impair academic, social, or adaptive functioning. If these diagnostic criteria are met, that’s attention deficit hyperactivity disorder.
Depending on your patient’s symptoms, you can classify their ADHD as predominantly hyperactive-impulsive, predominantly inattentive, or combined type ADHD.
Here’s a clinical pearl to keep in mind! Patients with ADHD often have a coexisting learning disorder; a persistent and impairing difficulty with learning a foundational academic skill, such as reading, writing, or math.
School-based educational assessment can help identify deficits in subject-specific academic skill performance and confirm the diagnosis of a learning disorder.
Alright, let’s switch gears to when impulsivity or distractibility are absent. In this case, assess for motor and verbal tics.

Tourette syndrome 7:21–9:18

Tics are sudden, recurrent movements and vocalizations that are hard to control. Common motor tics include blinking, facial grimacing, kicking, jumping, or copying the movements of others.
On the flip side, common vocal tics include coughing, throat clearing, grunting, yelling, or repeating words or phrases.
If tics are present, you have to dig deeper into the history. The most well-known tic disorder is Tourette syndrome, also called Tourette disorder.
Patients frequently report sudden, recurrent movements and vocalizations, and may describe premonitory feelings, or a sense that a tic is about to happen.
With concentration, they may be able to temporarily suppress the tic from happening. Tics typically have a waxing and waning course, as the number, type, and frequency of tics change over time.
Additionally, tic disorders may be exacerbated by stress. In Tourette syndrome, tic onset is typically around 4 to 6 years old, and severity peaks around 10 to 12 years old, then tends to improve throughout adolescence.
A family history of tic disorders is often present. With this classic history, consider Tourette syndrome, and assess your patient using the DSM-5 criteria.
To diagnose Tourette syndrome, your patient must have a history of two or more motor tics as well as one or more vocal tics.
The symptoms, in this case tics, must be present for one or more years, with an onset before 18 years old. If all these diagnostic criteria are present, diagnose Tourette syndrome.
Finally, let’s discuss a situation where ticks are absent. In this case, ask specifically about signs and symptoms of intellectual disability.

Intellectual disability9:18–12:12

Caregivers commonly report that the child had one or more developmental delays during early childhood, and upon entering school, they typically have difficulty with academic learning.
Depending on the severity of intellectual impairment, patients with intellectual disability may need support for most aspects of daily living.
They might also have risk factors for intellectual disability, including certain genetic conditions, such as fragile X and Down syndrome; prenatal substance exposure, like fetal alcohol syndrome; and hypoxic-ischemic brain injury.
With this classic history, consider intellectual disability, and assess your patient using the DSM-5 criteria. The diagnosis requires your patient to have deficits in intellectual capacity and adaptive functioning since early childhood.
Intellectual capacity refers to cognitive skills such as reasoning, problem-solving, and academic learning. On the flip side, adaptive functioning refers to the social and practical skills that are necessary for personal independence at home, school, work, and within the community.
If these diagnostic criteria are present, you can diagnose intellectual disability. Here’s another clinical pearl!
Intellectual disability may co-occur with ASD. Patients with both conditions tend to be diagnosed early due to pronounced symptoms.
On the flip side, ASD alone is often underdiagnosed or diagnosed late, especially in certain groups like biologically female patients, ethnic minorities, those with low socioeconomic status, and patients from non-English-speaking families.
For this reason, pay close attention when any social, behavioral, or developmental concerns arise in these groups. Let’s finish with a high-yield fact!
Many DSM-5 diagnoses have a severity specifier, which indicates the level of impairment and the corresponding need for support.
For example, the severity specifiers in intellectual disability include mild, moderate, severe, and profound. People with mild intellectual disability have the potential for traditional employment and independent living, and their support needs may be limited to complex decision-making, such as health care and legal decisions.
On the other hand, people with profound intellectual disability need full-time care and support for all aspects of daily living, and their communication skills are severely limited.
Alright, as a quick recap… When assessing a patient for a neurodevelopmental disorder, look for key features through history and physical exam, which are complemented with the DSM-5 criteria.

Review 12:12–12:48

When a patient has significant social disengagement, think of autism spectrum disorder. However, if your patient has significant impulsivity or distractibility, consider ADHD.
Next, if your patient presents with tics, that’s probably Tourette syndrome. Finally, if your patient has deficits in intellectual capacity and deficits in adaptive functioning,