Autism spectrum disorder (ASD): Nursing

Autism spectrum disorder, or ASD, is a neurodevelopmental disorder that manifests during infancy or early childhood and is associated with social communication and interaction deficits, as well as restrictive or repetitive behavior, interests, and activities, which can interfere with how a client functions independently in society. Many previously separate disorders like Autistic disorder and Asperger disorder now fall under ASD.

First, let’s look at childhood developmental milestones, which are skills or behaviors that most infants are able to perform at a specific age. These milestones can be divided into social, communication, cognitive, and movement.

Social milestones include starting to smile at 2 months of age. By 4 months, they can copy facial expressions. At 6 months they can recognize familiar faces and enjoy playing with others. At 1 year, they enjoy playing games like peekaboo and show fear with strangers. By 2 years of age, they enjoy playing with other children, show more independence, and start being more defiant, the so-called terrible 2s.

Communication-wise, at 2 months, infants can coo and say “ga” and will respond to sounds. By 4 months, they can babble and try to copy sounds they hear. By 6 months, they start stringing together vowels like ooh-ahh-ehh and respond to their own name. At 1 year, they can respond to simple requests like “come”, say simple words like mama and dada, and use simple gestures like waving bye bye. By 2 years of age, they can point to the correct object when named, and say sentences with 2 to 4 words.

Next, regarding cognitive development, at 2 months they start following moving objects with their eyes, and pay more attention to faces. By 4 months they’ll watch moving toys and reach for them, and by 6 months they’ll start showing curiosity about objects they can see. By 1 year, they can use simple objects correctly like brushing their hair with a comb, and they will experiment with different objects by banging, shaking, or throwing them. By 2 years, they can follow 2 step instructions like pick up the ball and throw it in the basket, they can sort objects by categories such as color, shape, and size, and name familiar items like bird, cat, house.

Finally, when it comes to motor development, at 2 months infants should be able to hold their head up. At 4 months they should be able to hold their head steady without support, roll over from their tummy to their back, hold a toy in their hand, and press down with their leg when standing on a hard surface. By 6 months, they can roll front to back and back to front, and sit without support. By 1 year, they can stand on their own, and walk while holding onto objects. By 2 years, they can kick a ball, run, stand on their tiptoes, and walk up and down stairs.

Now, the exact cause of autism spectrum disorder is still unknown, but it’s believed to be linked with mutations in certain genes that regulate normal brain development.

Important risk factors that have been associated with the development of autism spectrum disorder are mostly non-modifiable, and include being assigned male at birth, family history of autism spectrum disorder, older parental age, and prematurity. Clients with certain genetic syndromes, such as fragile X syndrome, tuberous sclerosis, Rett syndrome, and Down syndrome, are also at an increased risk for developing autism spectrum disorder. Modifiable risk factors include maternal infections during pregnancy, as well as prenatal exposure to toxic agents, such as certain antiepileptic medications. However, no link has been found between ASD and MMR vaccination.

Okay, the exact pathophysiology of autism spectrum disorder is still not fully understood, but it looks like there’s abnormal development in certain regions of the brain like the frontal and temporal lobes, which are responsible for regulating social and communication behaviors.

Clinical manifestations of autism spectrum disorder usually appear before 2 years of age, but they might also appear later in life. Children with ASD often have several delayed developmental milestones, especially social and communication milestones. However, there’s a lot of variability. Some children develop early milestones normally but fail to progress to later milestones. For example, they might start babbling at month 4, but they can’t say simple words like mama and dada by age one. Others might develop some milestones normally, but miss others. So at the age of 2, they might show more independence, but refuse to play with others.

In addition to missing milestones, clients with ASD develop social and communication deficits. There are three main types of social and communication deficits. First is deficits in social-emotional reciprocity, ranging from a difficulty with normal back-and-forth conversation to completely failing to initiate and respond to social interactions. This is often made worse by the fact that many clients with autism spectrum disorder also experience hearing impairment. Second is deficits in nonverbal communication like difficulty coordinating speech with eye contact. And third is deficits in developing, maintaining, and understanding social relationships, which includes adjusting behavior to suit a specific context, to difficulties with making and keeping friends.

In addition to these deficits, clients have restrictive and repetitive behaviors, interests, and activities. These include stereotyped or repetitive motor movements like eye twitches, use of objects, or speech. Additionally, clients can be inflexible when it comes to change, or might show ritualized patterns of verbal or nonverbal behavior, like always facing one direction when they play. They might also have highly restricted, fixated interests like a strong attachment to candles. And finally, they show hyper- or hypo reactivity to specific sensory stimulation, like being indifferent to pain or getting extremely upset by the sound of rain.

Clients with autism spectrum disorder might exhibit one or more of these deficits, and vary in how severe the deficit is. Based on this, they can be grouped into three functional levels. Level one clients are functional and verbal but have a hard time establishing relationships. They are often perceived as weird or eccentric due to their behavior, or lazy and insecure because they might be late to meet their developmental milestones. Level two clients have more prominent social difficulties, may only use simple sentences to express their needs and have obvious repetitive and odd behaviors. Level three clients have severe functional limitations, are usually non verbal or may only use a few words and require constant care and support.

In any case, a common comorbid condition for ASD is epilepsy, which develops typically during early childhood or adolescence. Complications of ASD include dependency on others to function normally, which puts additional pressure and stress on the whole family. Clients with problems establishing social relationships with others, might experience social isolation, learning difficulties, and problems with school and finding jobs. Children with ASD can also be commonly bullied and victimized by their peers. Finally, it's important to remember clients with ASD are at a higher risk for developing depression, anxiety and psychotic disorders.

Okay, diagnosis of autism spectrum disorder is based on the client’s history and physical assessment. Primary care providers, or PCPs, usually perform screening of children using Modified Checklist for Autism in Toddlers-Revised which is a questionnaire for parents about their child’s behavior. It is performed at 18 months of age with a follow up at 24 and 30 months of age. If autism spectrum disorder is suspected, the client is then referred to a specialist, such as a child's psychiatrist, that can establish the diagnosis based on the Diagnostic and Statistical Manual for Mental Disorders fifth edition or DSM-5 criteria. This is a set of diagnostic criteria indicating the symptoms that must be present, and for how long, to diagnose a condition.

Now, based on the DSM-5 criteria, to diagnose autism spectrum disorder the client must have persistent defects in social and emotional reciprocity, non-verbal communication and relationship development. Additionally, they must have at least two out of four types of restrictive and repetitive behaviors, including stereotyped or repetitive motor movements; rigid adherence to routines; restricted interests with abnormally high focus; or abnormal reactivity to sensory stimuli.