Autistic spectrum disorders

Source: BRS – Pediatrics, 2019

Pathophysiology (Gillberg, 2019)

• Autism spectrum disorder is a developmental disability characterized by persistent deficits in social communication and repetitive/restrictive patterns of behavior, interests, or activities. The etiology is multifactorial, with genetics counting 10–20% (many genes implicated). However, the impact of environmental, epigenetic, and medical risk factors has yet to be determined.
• Of note, there is strong evidence showing vaccinations do not cause autism.
• Associated conditions may include intellectual disability, learning disabilities, epilepsy, tic disorders, sleep disorders, feeding disorders, attention deficit/hyperactivity disorder (ADHD), other psychiatric conditions, and genetic syndromes (e.g., Fragile X).

Epidemiology (CDC, 2020)

• About 1 in 59 children has been identified with autism spectrum disorder (ASD) according to estimates from CDC’s Autism and Developmental Disabilities Monitoring (ADDM) Network (CDC, 2020). Increased incidence is related in a large part to early screening/detection and broader diagnostic criteria.
• Autism is more common in boys (4:1 ratio).

Physical exam findings (Brown et al., 2019)

The diagnosis of Autistic Disorder in DSM-5 has 2 key criteria: 1. Impairments in social communication and social interaction, and 2. A restricted, repetitive range of interests, behaviors, and activities

• Qualitative impairment in social communication (all three of the following are present on evaluation or by history): Deficits in social–emotional reciprocity (back and forth interactions); 2. Deficits in nonverbal communicative behaviors used for social interaction; 3. Deficits in developing, maintaining, and understanding relationships
• Repetitive, restricted, and stereotyped patterns of behavior, activities, and interests (two of the following criteria present on evaluation or by history) Stereotyped or repetitive motor movements, use of objects, or speech; 2. Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal behavior a. Highly restricted, fixated interests with abnormal intensity or focus; b. Hyper- or hyporeactivity to sensory input; unusual interest in sensory aspects of the environment
• Symptoms are present in early childhood.
• Symptoms cause significant functional impairment (e.g., learning, adaptive behavior, peer/family relationships).
• Spectrum is wide (high functioning vs. low functioning) with many individual differences in presentation.

Differential diagnoses and rationale (Gillberg, 2019)

Types of Autism

• Asperger’s Syndrome. Children with Asperger’s Syndrome tend to struggle to understand and interpret social cues, develop intense, often obsessive interests in one or two subjects and often display a higher-than-average and even gifted intelligence. Asperger’s Syndrome receive an initial misdiagnosis because other conditions resemble it, such as Obsessive Compulsive Disorder and Attention Deficit Disorder.
• Rett Syndrome. This type of progressive autism only affects girls and begins to become apparent when they reach about 6 months old. Typical symptoms including repetitive hand and arm flapping, delayed speech and problems with fine and gross motor skills.
• Childhood Disintegrative Disorder (CDD). Children seem to develop normally — meeting all of their milestones — but then suddenly start regressing around the age of 2.
• Kanner’s Syndrome. Also called Classic Autistic Disorder. Children with standard behaviors of autism, including difficulty understanding and communicating with others, limited to no eye contact, hypersensitivity to noises, touch, light and smell and a strong preference for routine.
• Pervasive Developmental Disorder – Not Otherwise Specified (PDD-NOS). This more mild form of autism can cause children to have social or developmental delays, like walking or talking later than most children.

Austitic spectrum disorder can be differentiated with diagnoses with behaviour problems, ADHD, emotional difficulties, Tourette syndrome, selective mutism and attachment disorder

Management plan (Brown et al., 2019)

• There are many interventions to treat “core” symptoms of autism, but none are curative.
• Primary treatments include behavioral interventions (ABA [applied behavioral analysis]), special education, speech–language therapy, occupational therapy and social skills training. ABA is a set of principles used to understand and modify behavior in the context of the child’s environment. ABA has the best evidence in treating the core symptoms of autism in young children.
• Medication may be needed to manage comorbid psychiatric conditions or maladaptive behaviors unresponsive to other approaches.