Autism Spectrum Disorder (ASD) Presentation

Autism Spectrum Disorder (ASD)

Alana Fabish, Emily Griffin, Ellen Quinn, Nicolette SinagraNYMC - Department of Speech-Language PathologyMarch 1, 2016

Today’s Objectives● Autism Spectrum Disorder

○ Predictive factors○ “Red flags”○ Characteristics

● Transition from DSM-IV to DSM-V● The Diagnostic Process

○ Screening Tools; Early Dx; Referral/Service Options● Dx Controversies & Professionals ● AAP Guidelines● Capstone Information

Autism (ASD)● Developmental disability

○ Social, communication, behavioral challenges ■ ~ 1 in 68 Dx; 4:1 (M/F)

● Etiology: ıdıopathıc. ○ Biological/Genetic? Environmental? Dietary? Vaccinations*

● “Umbrella Term” (~2013) ○ Asperger’s Disorder (AsD), Autistic Disorder (AD), PDD-NOS○ People fall on a continuum from mild to severe deficits

Predictive Factors ● Maternal age was not a predictive factor when compared to

the family characteristics and dynamics (Bickel et al., 2015).

● “Urbanicity” led to an increased amount of diagnoses, due to: ○ Increased general awareness. ○ Exposure to families in similar situations. ○ Better access to healthcare providers.

● Two main predictive factors: ○ Having an older, typıcally developıng sıblıng. ○ Sıgns of developmental regressıon for a younger age (also given a

more mild Dx).

“Red Flags”

● ~ 14-24 months○ Repetitive mannerisms○ Not consistently responding to name (ın abs. HL)○ Sensory atypicalities (e.g., dıet)○ Lack of persistence in social interaction○ Late talking○ Echolalia○ Regression in developmental milestones (*18m)

Hallmark Characteristics ● Socialization

○ Lack of social/emotional reciprocity○ Difficulty establishing shared frame of reference ○ Frequent use of stereotypic expressions or topics

● Pragmatics○ Inability to appreciate the perspectives of others

■ “Theory of Mind”○ Echolalia○ Difficulty regulating and identifying emotions

Hallmark Characteristics (cont.) ● Communication

○ Delayed or absent verbal communication or gestures○ Lack of pretend & symbolic play○ Impaired initiation

● Behaviors○ Restricted repertoire/ repetitive behavior○ Inflexible adherence to routines ○ Ritual lining up of objects○ Hypersensitivity

● Revised and published in 2013● One of the most important changes was to: ASD

○ “Revised diagnosis represents new, more accurate, and medically and scientifically useful way of diagnosing individuals with autism-related disorders” (American Psychiatric Association, 2013)

Redefining Autism: DSM-IV to DSM-V

● Change from DSM-IV○ Dx with 4 disorders:

■ autistic, Asperger’s, childhood disintegrative, PDD-NOS○ Not applied consistently across clinics/centers○ Assert: anyone dx’d with one of those disorder should still meet

DSM-5 Criteria for ASD

Redefining Autism (cont.)● New DSM-V criteria:

○ Considered a better reflection of the state of knowledge about autism○ Single umbrella disorder will improve dx of ASD without limiting

sensitivity of criteria or change number of children diagnosed

● Criteria change encourages earlier diagnosis○ Individuals must show symptoms from early childhood ○ DSM-IV was geared towards ID-ing school age children○ DSM-V more useful in diagnosing younger children

● Controversy:○ Most children with DSM-IV PDD diagnoses will retain diagnosis of ASD○ Other studies have found the opposite - criteria is too strıct

DSM-5 Diagnostic Descriptors: ASD● Must meet the following criteria:

○ Persistent deficits in social communication/social interaction across multiple contexts■ Ex: deficits in nonverbal communication, deficits in developing, maintaining, and

understanding relationships, deficits in social-emotional reciprocity○ Restricted, repetitive patterns of behavior, interests, activities manifested by at least two

specific examples■ Ex. stereotyped/repetitive movements OR rituals OR fixated, restrictive interests OR

hyper-or hyporeactivity to sensory input○ Symptoms must be present in early developmental period○ Symptoms limit and impair everyday functioning○ Disturbances are not explained by intellectual disability

● Severity is based upon: ○ Social communication impairments and restrictive, repetitive patterns of behavior.

Social (Pragmatic) Communication Disorder● Must meet the following criteria:

○ Persistent difficulties in social use of verbal/nonverbal communication manifested as:■ for social purposes■ inability to change communication to match the context/needs of the listener■ difficulty following rules of conversation and storytelling■ difficulty understanding inferences, nonliteral, and ambiguous meaning of language

○ Deficits result in functional limitations in communication, participation, social relationships, academics, or occupational performance

○ Onset is in early developmental period○ Symptoms/deficits cannot be explained by other medical/neurological conditions

AAP Guidelines: Screening & Surveillance● AAP (American Academy of Pediatrics)

○ Pediatricians and physicians responsible for ASD surveillance & screening

○ Surveillance - ongoing process, pediatrician identifies children at risk for developmental delays

○ Screening - using standardized tools at specific well visits to support/refine children at risk

AAP: Surveillance vs. Screening Timeline

● Recommend surveillance at each well visit○ Ask parents about child’s developmental milestones and/or

concerns○ AAP brochure “Is Your One-Year-Old Communicating With

You?” at 9 or 12-month visit● Recommend that all children be screened with a standardized

developmental tool at specific intervals, regardless of whether a concern has been raised or a risk has been identified: ○ 9 months; 18 months; 24 months OR 30 months. ○ Additional screenings recommended for hıgh-rısk chıldren (e.g.

relative with ASD) or when parents express concerns

Screening “at risk” children

● Under 18 months - nothing available for routine screenings○ Infant/Toddler Checklist from Communication & Symbolic Behavior Scales

Developmental Profile● Over 18 months - many available screeners, categorized as “level 1” or

“level 2”○ Level 1- administered within a well visit, differentiate children at risk for

ASD from typical peers ex. MCHAT○ Level 2- administered/used in EI or developmental clinics, differentiate

children at risk for ASD from other developmental disorders

Screening children not “at risk” at 18 and 24 month● Any Level 1 ASD screener is appropriate for young children with no

risk● Please see handout for comprehensive list

Screening & Diagnosis (cont.)● Positive (+) screening:

○ Refer for a comprehensive diagnostic evaluation:■ Developmental pediatrician■ Pediatric neurologist■ Pediatric psychologist or psychiatrist

○ Provide parental education■ Reading materials on ASD■ “Wait and see” NOT recommended

○ Refer for audiologic evaluation

Screening Tools● Modified Checklist for Autism in Toddlers:

○ “MCHAT (screening)”○ Screening test for 18-36 month old children of concern○ ~5-10 min to administer and score○ 9 yes/no questions for parent○ No specific training needed

Screening Tools (cont.)● Pre-linguistic Autism Diagnostic Observation Schedule:

○ “PL-ADOS”○ ~ 12 months - childhood ages○ Direct observation of elicited behavior

■ Social overtures, play, imitating, requesting, reciprocity, nonverbal communication

○ Training required for use of PL-ADOS○ ~ 40 - 60 minutes to administer & score

Screening Tools● Autism Diagnostic Interview, Revised

○ “ADI-R” ○ Children and adults with a mental age above 2.0 years old

■ Useful for diagnosing autism, planning treatment, and dıfferentıal dıagnosıs of autısm from other developmental disorders

○ Standardized Parent/Caregiver interview: ■ Focusing on: reciprocal social interaction; communication & language;

repetitive & stereotyped behaviors ○ Training required for use of ADI-R○ ~ 90 - 150 minutes to administer & score

Screening Tools● Childhood Autism Rating Scale:

○ “CARS” ○ Most widely used dx instrument*○ ~ 24 months - childhood ages○ Direct observations to identify autism and determine symptom

severity.■ Two 15-item rating scales (Standard/High-Functioning)■ + Parent/caregiver questionnaire

○ Training required for use of CARS○ ~ 15 minutes to administer & score

Why is Early Dx Important?

● Intervention provided before age three has a much greater impact than intervention provided after age five

● May help speed the child’s overall language development● Improvement in IQ scores● Gains in initiation of spontaneous communication● Generalization of gains beyond therapeutic sterile environment ● Lead to better long-term functional outcomes

Woods, J. J., Wetherby, A. M., (2003). Early identification of and intervention for infants and toddlers who are at risk for autism spectrum disorders. Language, Speech, and Hearing Services in Schools, 34, 180-193.

ReferralsFollowing a (+) screening, the primary role of the pedıatrıcıan is to…

● Discuss results with parents/caregivers○ Possible recommendation for genetic testing

● Refer to a developmental pediatrician or neurologist ● Refer to Early Intervention for children <3 and Special Education Services for

children >3 ● Refer to psychologist or psychiatrist PRN

Service Options● Early Intervention (EI)● Committee on Preschool Education (CPSE)

○ Home-based Program○ Clinical Setting○ School○ Daycare○ Individual and/or Group

Service Options (cont.)● Choice of setting depends on a varıety of factors relatıve to

the ındıvıdual:○ Age/Developmental Level○ Type & Severity of the Communication Disorder○ Strengths and Interests of the Child ○ Medical Problems○ Family’s Interests and Ability to Participate○ Language Used by the Child and Family○ Community Resources

Service Options (cont.)● Therapies available for children can include:

○ Speech Therapy (ST)○ Occupational Therapy (OT)○ Physical Therapy (PT)○ Adaptive Skills○ Social Emotional

Intervention Options ● (ABA) Applied Behavioral Analysis ● (TEACCH) Treatment and Education of Autistic and Related

Communication Handicapped Children ● (PECS) Picture Exchange Communication System ● (PROMPT) Prompts for Restructuring Oral Muscular Phonetic Targets ● Developmental Child Directed Model● SCERTS Model● Sensory Integration Therapy● Hippotherapy/Therapeutic Horseback Riding● Music Therapy● Auditory Integration Therapy (caution!)

Dx controversies & Professionals● Controversy:

○ Medical professions reported Dx and Screening challenges. ■ Time constraints.■ Uncertainty in identification of signs of ASD.■ Lack of experience & familiarity of tools. ■ Fiduciary concerns: cost/reimbursement.

Dx controversy & Professionals (cont.)● Internal & External challenges.

○ Limited ASD-specific training.○ Ambiguous Dx criteria. ○ Limited understanding of ASD’s variable nature. ○ Fear of misdiagnoses.

● Challenges affect:○ Confidence, certainty, efficacy, and reliability of Dx.

● Dx in uncertain situations? ○ 60/105 doctors Dx ASD under uncertain circumstances.

● Must acknowledge: ASD mis/over/lack of diagnoses.○ Impact → Child’s life & allocation of appropriate services.

Our CapstonePrımary Goal: Investigate and survey pediatricians in:● Westchester, Putnam, Dutchess, Rockland; ● Suffolk, and Nassau counties; ● Five boroughs of New York City, In order to determine:

○ Salient diagnostic indicators of ASD○ Commonly used assessment tools (formal & informal) to screen for ASD○ Their knowledge of changes to the diagnostic criteria in the DSM-V○ Which specialist is their primary referral source ○ Level of educational training regarding ASD signs and symptoms (e.g.,

medical school; clinical programs; continuing education courses; etc.)

Questions?

ReferencesAmerican Psychiatric Association: Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition. Arlington, VA, American Psychiatric Association, 2013

Bickel, MD, J., Bridgemohan, MD, C., Sideridis, PhD, G., & Huntington, N. (2015). Child and Family Characteristics Associated with Age of Diagnosis of an Autism Spectrum Disorder in a Tertiary Care Setting. Journal of Development and Behavioral Pediatrics, 36(1), 1-7.

CDC. (2015, August). Screening and Diagnosis for Healthcare Providers. Retrieved from http://www.cdc.gov/ncbddd/autism/hcp-screening.html

Dosreis, S., Weiner, C. L., Johnson, L., Newschaffer, C. J. (2006). Autism spectrum disorders screening and management practices among pediatric providers. Developmental and Behavioral Pediatrics, 27(2), 88-94.

Goin-Kochel, R. P., Mackintosh, V. H., & Myers, B. J. (2006). How many doctors does it take to make an autism spectrum diagnosis?. Autism, 10(5), 439-451.

Johnson, C.P., Myers, S.M., Council on Children with Disabilities. (2007). Identification and Evaluation of Children with Autism Spectrum Disorders. American Academy of Pediatrics. Retrieved from www.pediatrics.org/cgi/doi/10.1542/peds.2007-2361

Junco, M. (2016). AAP urges continued autism screening in addition to more research. American Academy of Pediatrics. Retrieved from http://www.aappublications.org/news/2016/02/16/Autism021616

Lauritsen, M., Astrup, A., Pederson, C., Obel, C., Schendel, D., Schieve, L., Parner, E. (2013). Urbanicity and Autism Spectrum Disorders. Journal of Autism and Developmental Disorders, 394-404.

Lord C, Risi S, DiLavore PS, Shulman C, Thurm A, Pickles A. Autism from 2 to 9 years of age. Arch Gen Psychiatry. 2006 Jun;63(6):694-701.

ReferencesMandell, D. S., Novak, M. M., Zubritsky, C. D. (2005). Factors associated with age of diagnosis among children with autism spectrum disorders. Pediatrics, 116(6), 1480-1486. Mazureck, M. O., Handen, B. L., Wodka, E. L., Nowinski, L., Butter, E., Engelhardt, C. R. (2014). Age at first autism spectrum disorder diagnosis: The role of birth cohort, demographic factors, and clinical features. Journal of Developmental Behaviors Pediatrics, 35(9), 561-569.

Skellern, C., Schluter, P., & McDowell, M. (2005). From complexity to category: responding to diagnostic uncertainties of autistic spectrum disorders. Journal of Paediatrics and Child Health,41(8), 407-412.

Woods, J. J., Wetherby, A. M., (2003). Early identification of and intervention for infants and toddlers who are at risk for autism spectrum disorders. Language, Speech, and Hearing Services in Schools, 34, 180-193.