Autism Spectrum Disorder in 2014

1. Autism Spectrum Disorderin 2014 B.J. Freeman, PhD Professor Emerita, UCLA School of Medicine Alabama CASE Conference February 25, 2014

2. What are Autism Spectrum Disorders? ASDs are heterogeneous syndromes with multiple etiologies. Currently the view is that some factor or combinations of factors act through one or more mechanisms to produce a disruption in brain development that leads to the behavioral syndrome of ASD.

3. ASDs are one of neurodevelopmental disorders manifest in early childhood characterized by impairments of personal, social, academic/occupational functioning.

4. ASDs are characterized by persistent deficits in social communication and social interactions across multiple contexts, including deficits in -

5. social reciprocity • nonverbal communication used for social interaction • skills in developing, maintaining & understanding relationships • restricted, repetitive patterns of behaviors, interests or activities

6. Because symptoms vary across development & may be masked by compensatory mechanisms & supports in place, diagnostic criteria may be met on HISTORICAL INFORMATION, but must result in impairment.

7. Today applied behavior analysis (ABA) is the standard of practice for treatment of ASD and has been found to alter brain development.

8. Advantages of DSM-5 New Category of Autism Spectrum Disorder includes previously separate diagnoses of - • Autistic Disorder • Asperger’s Disorder • Childhood Disintegrative Disorder • Pervasive Developmental Disorder, NOS

9. Research indicates a continuum from Mild to Severe • Criteria specifies a range of severity as well as describing the individual’s overall developmental status.

10. Provides a dimensional assessment to improve sensitivity & specificity of criteria. • Is a more descriptive definition that can be individualized; helps clinicians make individualized diagnosis. • Allows diagnosis of comorbid conditions.

11. DSM-5 definition of Intellectual Disability should make it easier to qualify persons with scores on IQ tests in the average range for services.

12. ASD Diagnosis Symptoms must be present in the early developmental period (but may not become fully manifest until social demands exceed limited capacities, or may be masked by learned strategies in later life). No age of onset criteria.

13. Symptoms cause clinically significant impairment in social, occupational or other important areas of current functioning.

14. Disturbances are not better explained by intellectual disability or global developmental delay. Intellectual disability (ID) and ASD frequently co-occur; to make comorbid diagnoses of ASD and ID, social communication should be below that expected for general developmental level.

15. Individuals with a well-established diagnosis of Autistic Disorder, Asperger’s Disorder or PDD-NOS, should be given the diagnosis of Autism Spectrum Disorder.

16. Individuals who have marked deficits in social communication, but whose symptoms do not otherwise meet criteria for ASD should be evaluated for social (pragmatic) communication disorder.

17. In DSM-5, diagnosis is specified - with/without intellectual impairment; with/without accompanying language impairment; if associated with a known medical or genetic condition or environmental factor; if catatonic (Gerard); and if present, psychiatric diagnosis (e.g., ADHD)

18. Severity Specifiers Indicates level of support required: Level 1, requires support; Level 2, requires substantial support; or Level 3, requires very substantial support Rated separately for social communication and restricted repetitive behaviors.

19. For description, not diagnosis Severity can vary with context; can and will change overtime Descriptors should not be used to determine eligibility for services Allows diagnosis to be individualized

20. Diagnostic Specifiers • With or without intellectual disability: It is important to understand variability and uneven patterns of intellectual functioning. Verbal and nonverbal skills should be assessed independently. For persons with limited language, use untimed nonverbal tests for potential.

21. With or without language impairment: Include description or qualifier (e.g., no intelligible speech, phrased speech) Receptive language usually lags behind expressive language and should be listed separately.

22. Associated with known medical or genetic condition or environmental factors;or with neurodevelopmental or mental disorders: Usually a gap between intellectual & adaptive skills. May present with motor clumsiness. Disruptive/challenging behaviors common. Adolescents & adults prone to anxiety and/or depression.

23. Prevalence • Current research indicates 1% of population is affected. • Prevalence of ASDs is estimated at 1:88 children (1:50 boys)

24. Who is Affected? All races, ethnic groups &socioeconomic levels Boys are 4 times more likely to develop ASDs than girls (currently 1 in every 4 males) Most recent estimates in the U.S. show 1.5 million people with ASDs and a new case diagnosed nearly every 20 minutes.

25. Much progress has been made in diagnosis. • Symptoms are evident at 8-12 months. • CDC recommends screening for ASD at 18 and 24 months.

26. Increase in Prevalence: Changes in diagnostic criteria Development of concept of a wide autism spectrum Different methods used in studies Growing awareness and knowledge Development of treatment programs Possible true increase in number of children being born

27. Autism is the only dramatically rising disorder while intellectual disability, Down syndrome and cystic fibrosis remain relatively stable.

28. Development & Course Always note age & pattern of onset symptoms Usually seen in first 12 months Small group shows deterioration in functioning Loss of skills merits further medical evaluation (Rett’s disorder)

29. Not a degenerative disorder and it is typical for learning and compensation to continue throughout life. Improvement is the natural course when intervention is provided early. May come to attention at any age and is more difficult to diagnose as people age and must rely more on history.

30. Risk & Prognostic Factors Best established prognostic factors for individual outcome is presence/absence of intellectual disability in the past. Important only in distinguishing ID from non-ID, but diagnosis must be made cautiously.

31. Functional language by age 5 is a good prognostic sign. Comorbid epilepsy is usually associated with greater intellectual impairment and lower verbal ability.

32. Environmental Factors • Many health problems are due to both genetic & environmental factors; this is likely the case with ASDs. • Researchers are currently exploring whether viral infections & air pollutants, for example, play a role in triggering autism.

33. Prenatal and post-natal brain and nervous system development may be disrupted by environmental exposure at lower levels than would affect adults.

34. There may be critical windows of susceptibility both prenatally and in early childhood during which the effects of exposure to environmental contaminates, depending on dose and timing, can be significantly more severe and lead to permanent and irreversible disability.

35. Known in utero environmental risk factors: Rubella Thalidomide Misoprostal Ethanol Valporic acid (VPA)

36. Nonspecific risk factors : Advanced parental age - mother & father Low birth weight - prematurity Fetal exposure to Valporate Lack of folic acid

37. Genetic Factors Heritability estimates range from 37%-90% based on twin studies. 15% of cases are known genetic mutation Even when genetic cause present, not full penetrant Remainder of cases appear to be polygenic with possibly 100s of genetic loci making small contributions.

38. ASD is considered to be one of the most inheritable complex genetic disorders in psychiatry. Despite its high heritability, autism has a heterogeneous etiology with multiple genes and chromosomal regions involved. Today autism represents a disruption in early brain development.

39. Genetic Causes of Autism Autism has no single known cause. Given the complexity of the disorder, the range of autistic disorders, and the fact that no two children with ASDs are alike, there are likely many causes. These may include genetic causes.

40. A number of genes appear to be involved in autism. Some may make a child more susceptible to the disorder; others affect brain development or the way the brain cells communicate. Still others may determine the severity of symptoms & overlap with other disorders.

41. Each problem in genes may account for a small number of cases, but taken together, the influence of genes may be substantial. Some genetic problems seem to be inherited, whereas others happen spontaneously.

42. In families who have one child with autism, the risk of having another child with autism is 3%-8%. The concordance of autism in monozygotic twins is 60%. A number of studies have found that first-degree relatives of children with autism also have increased risk of ASDs.

43. Culture Related Issues All races, ethnic groups and socioeconomic levels are affected. Cultural & socioeconomic factors may affect age of diagnosis. Late diagnosis & under-diagnosis occurs in minorities.

44. Ethnicity and socio-economic status do not consistently influence prevalence of ASDs. However, minorities are under-represented in treatment centers and tend to be diagnosed later.

45. According to the CDC, between 2002 and 2008 there was a 110% increase in Hispanic children, a 91% increase in Black non-Hispanic children, and a 70% increase in White non-Hispanic children diagnosed with ASDs.

46. On average, African-American children are diagnosed 18 months later than White children. Mandell (2002) reported African-American children were less likely (by 2.6 times) to receive an autism diagnosis on the first visit to a specialty office.

47. Gender Related Issues Diagnosed 4:1 in males Girls may present differently & remain undiagnosed Currently overall prevalence is 1:88; 1:50 boys

48. Functional Consequences Persons with ASDs have difficulty learning from the environment and require intensive early intervention.

49. Differential Diagnosis: Rett Syndrome Selective mutism Language disorders& social (pragmatic) communication disorder Intellectual disability(Intellectual developmental disability without ASD) Stereotypic motor disorder Attention-deficit/hyperactive disorder Schizophrenia

50. Comorbidity: Intellectual disability Language impairments Psychiatric symptoms 70% have one comorbid psychiatric diagnosis, 40% have two or more, particularly as persons age. When diagnostic criteria for comorbid condition is met, that diagnosis is made as well.