Approach to neurodevelopmental disorders: Clinical sciences

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.

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. 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.

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.