Understanding ASD: A Review for Pediatricians

Judith Aronson-Ramos, M.D.www.draronsonramos.com

Autism A.L.A.R.M.

Autism is prevalent Listen to parents Act Early Refer Monitor CDC ALARM Campaign “Learn The Signs Act Early”

A.L.A.R.MAutism is prevalent 1 in 68 -Autism and Developmental Disabilities Monitoring Network (CDC -2010) Developmental disorders may have subtle signs and be easily missedListen to parents Early signs of autism can be present before 18 months Parents usually DO have concerns something is wrong When parents do not spontaneously raise concerns, ask if they have anyAct early Make screening and surveillance part of your practice (as endorsed by the

AAP)** controversy of screening all vs those with concerns (US Preventive Services Task Force recommendation in august to stop screening all children sent back for further review )

Learn to recognize red flags Use validated screening tools (MCHAT 18,24 mo. and others)- CPT96110/1Refer To Early Intervention, Child Find, school program (don’t wait for a diagnosis) To an autism specialist for a definitive diagnosis To audiologist and rule out a hearing impairment To local community resources for help and family support – CARD, etc.Monitor Consider a follow-up appointment to discuss concerns Educate parents and provide them with information FOR ONLINE EDUCATION ABOUT ASD

http://www.cdc.gov/ncbddd/autism/index.html

What happened to Autism? Aspergers?Publication of DSM 5, May 2013 – PDDS replaced

by ASD Any child previously diagnosed with Aspergers,

Autism, or PDD-NOS should meet the new criteria for ASD

Initial concern about losing diagnoses unfoundedRetts and Childhood Disintegrative disorder no

longer lumped together with ASDDSM5 terminology –ASD levels 1-3 with/without

language impairment, intellectual disability, other genetic or developmental disorder

DSM 5 – ASD can have comorbid – ADHD, GAD, OCD, etc.

Annual Research Review: Classification of Autism Spectrum DisordersLord & Jones, 2012

Social &Communication Domain(s) in IV vs. 5DSM IVSOCIAL (2/4)(a) Marked impairment in the use of multiple nonverbal

behaviors to regulate social interaction (b) Failure to develop peer relationships appropriate to

developmental level(c) A lack of spontaneous seeking to share enjoyment,

interests, or achievements with other people (d) Lack of social or emotional reciprocityCOMMUNICATION (1/4) (a) Delay in, or total lack of, the development of spoken

language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)

(b) In individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation

(c) Stereotyped and repetitive use of language or idiosyncratic language

(d) Lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level

DSM 5Persistent deficits in social communication and social interaction across multiple contexts as manifest by the following, currently or by history: (social + communication=social communication (3/3))1. Deficits in social-emotional reciprocity2. Deficits in nonverbal communicative behaviors used for social interaction3. Deficits in developing and maintaining and understanding peer relationships

RRBI – IV vs. 5(3) RRBI -Restricted repetitive and

stereotyped patterns of behavior, interests and activities, as manifested by at least two of the following:

(a)Encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus HORSES

(b) Apparently inflexible adherence to specific, nonfunctional routines or rituals

(c)Stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements) HAND GESTURES

(d) Persistent preoccupation with parts of objects

B. Restricted, repetitive patterns of behavior, interests, or activities as manifested by at least two of the following:

1. Stereotyped or repetitive speech (echolalia), motor movements, or use of objects

2. Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or non-verbal behavior

3. Highly restricted, fixated interests that are abnormal in intensity or focus 4. Hyper-or hypo-reactivity to sensory input or unusual interest in sensory aspects of environment

Red Flags Not responding to name Lacking in back and forth play, limited/no joint attention , tri-point

gaze shift No pointing or babbling - 9 mo. or later No functional words at 15 mo. or later, echolalia, jargoning Repetitive and non-purposeful play – dumping toys, lining things

up, stacking –instead of creative/imaginative use of objects Limited or no eye contact Repetitive body movements or posturing – hand flapping, finger

twisting, spinning, rocking, all to an excessive degree. Unable to be redirected at 15 mo.+ due to an intense fixation

with an object or interest -“sticky attention”- “things over people” Unable to engage in expected activities for age from 12 mo. Prolonged difficulty with separation, extreme upset at changes in

routine, severe tantrums Viewing or inspecting objects from unusual angles – laying down

to look at spinning wheels or objects, using peripheral vision, fixating on moving objects that are not toys such as fans, elevators, washing machines etc.

Not comprehending instructions, directions, or tasks that are clearly age appropriate.

For more information on red flags visit www.firstsigns.org

Critical Red Flags Wetherby, Lord et al, Early Indicators of ASD in 2nd yr. of Life,

JADD, 2004, Vol.34, 473-493 9 Red Flags Lack of appropriate gaze Lack of warm joyful expressions with gaze Lack of sharing interest and enjoyment Lack of response to name Lack of coordination of gaze, facial expression, gesture,

sound Lack of showing, pointing Unusual prosody – echolalia, jargoning Repetitive movements or posturing of body, hands, arms,

fingers Repetitive movements with objects

Rapid ObservationCaregiver- child- examiner interactionsResponse to name, greeting behaviorGeneral level of language skillsFollowing a point or command by examiner or parent

Self stimulatory behaviorsOpen ended questions about child’s development; listening to and referring those parents who already have concerns

Abandoning a wait and see approachTIDOS – three item direct observation screen for autism – response to name, eye contact, joint attention – Autism August 2014 vol. 18 no. 6 733-742

Screening Instruments AUTISM SPECIFIC MCHAT – modified checklist for autism in toddlers 18 mo.

repeat at 24 mo. SCQ – Social Communication Questionnaire (2-4 yrs.) POSI, ESAT, available from www.theswyc.org

GLOBAL DEVELOPMENT Ages and Stages – Social Emotional CSBDP –Communication and Symbolic Behavior

Developmental Profile Parents Evaluation of Developmental Status (PEDS)

DSM 5 Improvements Inclusion of sensory challenges and difficultiesExplicit statement of how compensatory mechanisms can

mask underlying deficits (late diagnoses) – symptoms do not have to be present before the age of 3

Present in early developmental period but may be diagnosed later due to increased social demands behaviors do not need to be directly observed, by history is sufficient

Co morbid diagnoses (70%)– ADHD, GAD, OCD,etc. End of the inconsistent use of PDD-NOS and AspergersGreater appreciation of ASD as a heterogeneous

spectrum of disorders Reduces stigmatization – no hierarchy of PDDs though

severity should be specified

Social Communication Disorder Individuals who have marked social communication

deficits but whose symptoms do not otherwise meet criteria for ASD should be evaluated for social communication disorder (SCD) (an orphan dx? new PDD-NOS?)

SCD does not have any of the RRBIs necessary for an ASD diagnosis

There are currently no specific tools to make this diagnosis, rather by default it will be individuals who fail to meet full criteria for ASD and have pragmatic language deficits

AAP Recommendations Regarding Autism Screening

AAP Policy Statement July 2006 recommends a general developmental screening tool at 9,18, 30(?) month visit (ASQ,PEDS etc.)

Screening with an Autism specific instrument at the 18 month visit

For added specificity and sensitivity re-screen for Autism at 24 month visit mean age for regressive autism is 20 months may be missed if not re-screened

Screening Pro & Con Low cost of screening and potential benefit CDC - tools for screening as autism about 70% accurate and

only take about 15 minutes to administer—2 minutes of professional time.

Controversy is screen all vs screen only with parental concern

70-75 % of time there is a parental concern in ASD Anxiety, unnecessary testing and cost of ASD tx in false

positives Good diagnostic tools by age 2 – majority still diagnosed 4 or

later

Parents If they are already concerned validate and refer If you are concerned and they are not refer Good resources for parents www.firstsigns.org and

www.autismspeaks.org the video libraryFAU CARD www.coe.fau.edu/card/ or UM CARD

www.umcard.org Birth to 3 refer to early steps3-5 refer to child findDiagnostic referral: DB Pediatrician, Neurology,

Child Psychiatry/Psychology, Genetics

Parental ConcernPrimary concern is often language delayConcern about play skills (spinning wheels, lights off and on, spinning objects, lining up, and dumping)

Delayed and inconsistent responding to othersDifficulties with sleepPicky eaterPreschool sees “red flags”Pediatrician often the first professional consultedScreening widely available on the internet – firstsigns.org, cognoa.org and others

Pitfalls of AssessmentStability of diagnosis under age 2 and paucity of

diagnostic assessments under 2 (ADOS-T)Over 2/2.5 – CARS, SRS, ASRS, ADOS other diagnostic

tools in addition to history, observation, DSM criteriaConcerns inherent in assessing young children: variability

in performance, time constraints, natural vs. testing environment, lack of desire to please others

Usefulness of videoDifferentiation from language delay, DD, other confoundsOver dx and postponing a dx both have risks Inability to assess interaction with other children in the

office setting Importance of reassessment and follow up

Next Steps

Evidenced Based Treatments 20-40 (?) hours per week of combined interventions Applied Behavioral Analysis(ABA), Early Start Denver Model

(ESDM), PRT, other behavioral models Speech therapy Occupational Therapy Physical therapy Social Skills, Pragmatic Language Groups Therapeutic school CBT, MBSR – adults with ASD and anxiety/depression Additional therapies showing positive effects: hippotherapy,

sensory integration based therapies, omega 3 fatty acids, selective medications

Outcomes Research consistently demonstrates early intervention is

resulting in significant improvement – short and long term “Optimal Outcome” subgroup – loss of diagnosis- OO a child

no longer meets criteria for ASD on standardized instruments, IQ > 80, functions in a mainstream academic setting without supports for autism-related symptoms

New research showing cognitive skills much higher than prior estimates - more mainstreaming

Adaptive behavior - self care, interpersonal relationships, ADLS, - area which is very responsive to treatment and can make a big difference in whether or not an individual will become independent regardless of cognitive ability

BACKLASH – child is doing so well because he or she never really had ASD, everyone is on the spectrum, insurance co.

Funding for adults, employment, housing etc. – Autism Self Advocacy Network, Autism Speaks (education, community awareness, research), Congressional Funding (Combating Autism Act ‘06, ‘11)

New Research Published in Autism, Oct 2015, Blumberg MD et. al, National

Center for Health Statistics -1/8 ASD diagnosis will change; 18-37 % diagnosed at 2yrs will lose dx by age 4

Shulman, MD at Albert Einstein 1/14 (7%) lose dx, majority (92%) still need intervention (not published)

Loss of dx associated with higher IQ, language, and intensive early intervention

Common dx in children who lost ASD- ADHD, S/APD, GAD, Depression, BP,LD

Parents reasons for the loss of an ASD diagnoses (Blumberg): treatment effects; the condition went away on its own; a healthcare provider changed the diagnosis with new info (73.5%); disagreement with the initial diagnosis; diagnosis was merely to get access to services (24%).

Fewer children dx by a specialist lost their diagnosis

My Clinical ExperienceYounger ages of concern 9-15 mo. Earlier referral of siblings More girls, still 4-5:1 male to femaleLosing the ASD diagnosisMore mainstreaming, higher level of function - 46 % IQ>85

Subgroup with poor progressLater diagnosis in minoritiesIncreasing challenges with fundingLess concern about vaccines

ResourcesEarly Intervention Programs serve birth to three years of age, county specific: Palm Beach 561-881-2822 and Broward 954-728-8080

Child Find serves three years to school age, county specific, Broward 754-321-2204 / Palm Beach 561-434-8971

Card Center 561-297-2023/2055 or 1-800-9AUTISM

RESOURCES tab on www.draronsonramos.com