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Autism spectrum disorder

Background

Overview

Definition
ASD comprises a heterogeneous group of neurodevelopmental disorders characterized by early-onset deficits in social communication as well as restricted and repetitive interests and behaviors.
1
Pathophysiology
ASD is associated with alterations in brain connectivity resulting from a complex interaction of genetic, epigenetic and environmental factors.
2
Epidemiology
The prevalence of ASD in the US is estimated at 1,250-2,410 persons per 100,000 population.
1
Disease course
Clinical manifestations include developmental delay, deficits in social interaction, communication, and repetitive/restricted behaviors. Approximately 75% of patients with ASD have comorbid psychiatric conditions including anxiety, depression, attention-deficit hyperactivity disorder, bipolar disorder, and Tourette syndrome.
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3
Prognosis and risk of recurrence
Individuals with ASD have an estimated excess mortality rate ratio of 5.6. Associated medical disorders (including epilepsy with cognitive impairment) and accidents account for most of the deaths.
4

Guidelines

Key sources

The following summarized guidelines for the evaluation and management of autism spectrum disorder are prepared by our editorial team based on guidelines from the World Health Organization (WHO 2023), the British Association for Psychopharmacology (BAP 2019,2018), the U.S. Preventive Services Task Force (USPSTF 2016), and the American Academy of Child and Adolescent Psychiatry (AACAP 2014). ...
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Screening and diagnosis

Indications for screening: as per USPSTF 2016 guidelines, insufficient evidence to assess the balance of benefits and harms of screening for ASD in young children for whom no concerns of ASD have been raised by their parents or a clinician.
I
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  • Diagnostic process

  • Diagnostic criteria

Diagnostic investigations

Clinical assessment: as per AACAP 2014 guidelines, include questions about ASD symptomatology in the developmental assessment of young children and in the psychiatric assessment of all children.
B

Medical management

Pharmacotherapy
As per BAP 2018 guidelines:
Insufficient evidence to recommend any pharmacological agent for the routine management of ASD.
I
Avoid risperidone and aripiprazole in the management of repetitive behaviors in view of potential adverse effects. If used, clinicians should weigh up the risks and benefits and reevaluate these regularly.
D

Nonpharmacologic interventions

Physical activity: as per WHO 2023 guidelines, consider offering structured physical exercise to improve development, including social and communication development, and functioning in pediatric and adolescent patients with autism.
C

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  • Psychosocial interventions

  • Alternative and complementary therapies

Specific circumstances

Patients with depression
As per BAP 2018 guidelines:
Individualize the approach to treatment of depression in pediatric patients with ASD. Follow established guidelines to treat depression.
B
Individualize the approach to treatment of depression in adult patients with ASD. Follow established guidelines to treat depression.
B

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  • Patients with anxiety

  • Patients with irritability

  • Patients with sleep disorders

  • Patients with attention deficit and hyperactivity disorder

  • Patients with tic disorders and Tourette's syndrome

Follow-up and surveillance

Long-term support: as per AACAP 2014 guidelines, maintain an active role in long-term treatment planning and in the support of the individual and the individual's family.
B