Approach to AutismApproach to AutismApproach to AutismApproach to Autism

ASD DefinitionASD DefinitionASD DefinitionASD Definition

Autism is a neurodevelopmental disorder characterized by:

1. Qualitative impairment in reciprocal social interaction.

2. Qualitative impairment in communication.

3. Restricted, repetitive, and stereotyped behavior, interests, and other activities.

Autism is a neurodevelopmental disorder characterized by:

1. Qualitative impairment in reciprocal social interaction.

2. Qualitative impairment in communication.

3. Restricted, repetitive, and stereotyped behavior, interests, and other activities.

Autism Spectrum Disorder

Autistic DisorderAsperger Syndrome

PDNOSDisintegrative Disorder

DSM IV vs DSM V

DSM VDSM VDSM VDSM VPersistent deficits in social communication and interactions, as manifest by ALL of the following deficits in:

1. Social-emotional reciprocity

2. Nonverbal communication behaviors used for social interaction;

3. Developing and maintaining relationships appropriate to developmental level (beyond caregivers)

Persistent deficits in social communication and interactions, as manifest by ALL of the following deficits in:

1. Social-emotional reciprocity

2. Nonverbal communication behaviors used for social interaction;

3. Developing and maintaining relationships appropriate to developmental level (beyond caregivers)

Restricted, repetitive patterns of behavior, interests, and activities, as manifested by at least TWO of the following:

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

2. Excessive adherence to routines, ritualized patterns of verbal or nonverbal behavior, or excessive resistance to change

3. Highly restricted, fixated interests

4. Hyper- or hypo-reactivity to sensory input or unusual interest in sensory aspects of environment

Restricted, repetitive patterns of behavior, interests, and activities, as manifested by at least TWO of the following:

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

2. Excessive adherence to routines, ritualized patterns of verbal or nonverbal behavior, or excessive resistance to change

3. Highly restricted, fixated interests

4. Hyper- or hypo-reactivity to sensory input or unusual interest in sensory aspects of environment

EpidemiologyEpidemiologyEpidemiologyEpidemiology

Median world wide prevalence 62/10 000.1

Male to Female ratio - 4.3:1

“The recent upward trend in rates of prevalence cannot be directly attributed to an increase in the incidence of the disorder, or to an ‘epidemic’ of autism. There is good evidence that changes in diagnostic criteria, diagnostic substitution, changes in the policies for special education, and the increasing availability of services are responsible for the higher prevalence figures.” 2

Median world wide prevalence 62/10 000.1

Male to Female ratio - 4.3:1

“The recent upward trend in rates of prevalence cannot be directly attributed to an increase in the incidence of the disorder, or to an ‘epidemic’ of autism. There is good evidence that changes in diagnostic criteria, diagnostic substitution, changes in the policies for special education, and the increasing availability of services are responsible for the higher prevalence figures.” 2

EtiologyEtiologyEtiologyEtiologyGenetics

One child in a family with ASD rates as high as 18.7%. Double if 2 or more children.3

mutations in SHANK3, 11q23, 19q13 4

Obstetric Complications

Valproate 5, SSRI 6 Infection (rubella)

Toxic Exposure, Parental Age, Maternal Antibodies

Genetics

One child in a family with ASD rates as high as 18.7%. Double if 2 or more children.3

mutations in SHANK3, 11q23, 19q13 4

Obstetric Complications

Valproate 5, SSRI 6 Infection (rubella)

Toxic Exposure, Parental Age, Maternal Antibodies

Differential DiagnosisDifferential DiagnosisDifferential DiagnosisDifferential DiagnosisAttention-deficit/hyperactivity disorder (ADHD) plus anxiety

Nonverbal learning disability

Obsessive compulsive disorder

Anxiety plus language delay (with/without sensory issues)

Cognitive delay plus anxiety

Social (Pragmatic) Communication Disorder

Attention-deficit/hyperactivity disorder (ADHD) plus anxiety

Nonverbal learning disability

Obsessive compulsive disorder

Anxiety plus language delay (with/without sensory issues)

Cognitive delay plus anxiety

Social (Pragmatic) Communication Disorder

DiagnosisDiagnosisDiagnosisDiagnosis

Developmental MilestonesDevelopmental Milestones

Gross Motor Fine Motor Social Speech/Language

1 month - chin up in prone - hands fisted near face

- discriminates mother’s voice

- startles to loud noise

3 months - sits with support- holds head up

- bats at objects- inspects fingers

- reciprocal smile- follows person moving across room

- vocalizes when talked to- coos

6 months - sits without support- prone--bears weight on one hand

- transfers hand to hand- raking of pellet

- stranger anxiety begins

- listens then vocalizes when adult stops- gestures for “up”- babbles

9 months - pulls to stand - pincer grasp - separation anxiety- follows a point "Oh look at..."- recognizes familiar people visually

- orients to name well- imitates sounds- understands simple questions(“Where’s mommy?”)

Gross Motor Fine Motor Social Speech/Language

1 year - independent standing or walking

- scribbles/holds crayon

- shows objects to parent to share interest- points in order to get desired object (proto-imperative pointing)

- follows one-step command with gesture- recognizes names of two objects - looks when named- speaks one word

15 months - stoops to pick up toy- runs stiff legged- walks carrying toy

- builds 3-4 cube tower- releases pellet into bottle

- shows empathy (someone else cries child looks sad)- recognizes without a demo that a toy requires activation and hands it to an adult if can’t operate

- Says at least 3-5 different words spontaneously- Understands at least 3 different words- Points to 1 body part

18 months - starts to run- throws ball standing- seats self in small chair

- makes 4 cube tower- crudely imitates vertical stroke

- engages in pretend play

- begins to show shame and possessiveness

- Speaks minimum of 10-15 words-points to 3 body parts-points to familiar people when named

Gross Motor Fine Motor Social Speech/Language

2 years - walks down steps holding rail, both feet on each step

- throws overhand- kicks ball without demo

- makes a single line “train” of cubes

- imitates horizontal line

- parallel play- begins to mask emotion for social etiquette

Follows two step commandsSimple sentences (2 words)Speaks minimum 50 words50% intelligibility

3 years - balances on one foot for 3 seconds

- goes up stairs alternating feet

- rides tricycle- walks heel to toe

- catches ball - arms stiff

- copies circle- cuts with scissors side to side (awkwardly)

-starts to share with/without prompts-imaginative play-uses words to describe what others are thinking (mom thought I was asleep)

-points to parts of picture-groups objects-200+ words-3 word sentences-75% intelligibility -understands long/short

Gross Motor Fine Motor Social Speech/Language

4 years - balances on one foot for 4-8 seconds

- hops on one foot 2-3 times

- catches bounced ball

- copies square- ties single knot

- Deception - interested in tricking others and concerned about being tricked by others

- has a preferred friend

- group play

-points to things that are the same vs different-repeats 4-6 syllable sentence-tells stories-100% intelligibility-uses feeling words

5 years - goes down stairs alternating feet, no rail

- balances on one foot >8 seconds

- walks backward heel-toe

- copies triangle- writes first name- puts paper-clip on paper

- has a group of friends

- responds verbally to good fortune of others

- knows right and left- produces words that rhyme-defines simple words-knows telephone number-retells stores with clear beginning, middle, end

DiagnosisDiagnosisDiagnosisDiagnosis

AAP Screening Guidelines: Identifying Infants and Young Children With Developmental Disorders in the Medical Home: An Algorithm for Developmental Surveillance and Screening.

AAP Screening Guidelines: Identifying Infants and Young Children With Developmental Disorders in the Medical Home: An Algorithm for Developmental Surveillance and Screening.

1. Surveillance - the process of recognizing children who may be at risk of developmental delays.

2. Screening - the use of standardized tools to identify and refine that recognized risk.

3. Evaluation - a complex process aimed at identifying specific developmental disorders that are affecting a child.

Definitions

Surveillance

Screening

Evaluation

9, 18, 30 month visits

Developmental Surveillance1. Eliciting and Attending to the Parents’ Concerns

2. Maintaining a Developmental History

3. Making Accurate and Informed Observations of the Child

4. Identifying the Presence of Risk and Protective Factors

5. Documenting the Process and Findings

1. Eliciting and Attending to the Parents’ Concerns

“Do you have any concerns about yourchild’s development? Behavior? Learning?”

Recognize that parental concerns mandateserious attention.

Absence of parental concern does not preclude the possibility of serious developmental delays.

2. Maintaining a Developmental History

“What changes have you seen in your child’s development since our last visit?”

Age specific queries

Delay

Deviations

Dissociation

Regression

3. Making Accurate and Informed Observations of the Child

Careful physical and developmental examination

4. Identifying the Presence of Risk and Protective Factors

Risks: Environmental, genetic, biological, social, and demographic factors

Protective Factors: - Strong connections within a loving, supportive family.- Opportunities to interact with other children and grow in independence.- Environment with appropriate structure.

5.Documenting the Process and Findings

Electronic Medical Records - Specific form for developmental findings or plans.

Emerging Technology - Automated developmental risk assessments within the waiting room through computer-interpreted paper forms or information kiosks

By 9 months-Many motor skills and sensory - developmental issues (vision and hearing) can be reliably identified-Precursors of serious developmental delays are present-Early communication skills are emerging: (lack of eye contact, communicative pointing, response to name may suggest risks for language delays and/or ASD)

By 18 months-Delays in communication and language are evident and significant-Mild motor delays not apparent at 9 months may now be evident-M-CHAT should be administered for ASD

By 30 months-Most motor, language and cognitive problems can be identified with screening instruments

Screening

General DevelopmentalScreening Tools

Parent-interview form; designed to screen for

developmental and behavioral problems

0 - 8 years old

10 items

2-10 minutes

sensitivity: 0.74–0.79 (moderate)

specificity: 0.70–0.80 (moderate)

Parents’ Evaluation of Developmental Status(PEDS)

Ages & Stages Questionnaires (ASQ)Parent-completed age-

specific questionnaires screening

communication, gross motor, fine motor,

problem-solving, and personal adaptive skills; results in pass/fail score

for domains

sensitivity: 0.70–0.90 (moderate to

high)specificity: 0.76–0.91(moderate to high)

4–60 month old

30 items

10–15 min

Battelle Developmental Inventory Screening Tool, 2nd

ed (BDI-ST)Directly administered tool; designed to screen

personal-social, adaptive, motor, communication,and

cognitive development; results in pass/fail score

and age equivalent.

sensitivity: 0.72–0.93 (moderate tohigh)

specificity: 0.79–0.88 (moderate)

0 to 95 months100 items10–25 min

Bayley Infant Neurodevelopmental Screen (BINS)

Directly administered tool; series of 6 item sets

screening basic neurologic functions;

receptive, expressive and cognitive processes

results in risk category (low, moderate, high risk)

sensitivity: 0.75–0.86 (moderate)specificity: 0.75–0.86 (moderate)

3–24 months

11–13 items

10 min

Autism Screening Tools

Modified Checklist for Autism in Toddlers(M-CHAT)

Parent-completed questionnairedesigned to identify children at risk of autism from the general population

16–48 months

23 items5–10 min

sensitivity: 0.85–0.87 (moderate) specificity: 0.93–0.99 (high)

Pervasive Developmental Disorders Screening Test-II(PDDST-II), Stage 1-Primary Care Screener

Parent-completed questionnaire designed to identify children at risk of autism from the general population

12-48 mo

22 items10-20 minutes

sensitivity: 0.85-0.92 (moderate to high)specificity: 0.71–0.91(moderate to high)

Social Communication Questionnaire (SCQ)

Parent-completed questionnaire designed to identify children at risk of

ASD from the generalpopulation; based

on items in the ADI-R

>4 y

40 items

5–10 min

sensitivity: 0.85 (moderate)

specificity:0.75 (moderate)

Evaluation

Developmental Evaluation- Aimed at identifying the specific developmentaldisorder or disorders affecting the child- Providing further prognostic information and allowing prompt initiation of specific and appropriateearly childhood therapeutic interventions.-Interdisciplinary team:Developmental Pediatricians, child psychiatrists, child neurologist in conjunction with early childhood educators, child psychologists, SLP, OT, PT, audiologists, social workers.

Medical Evaluation- Vision screening, hearing evaluation, review of newborn metabolic screening and growth charts

- Based on history, physical exam, risk factors: include brain imaging, electroencephalogram (EEG), genetic testing, and/or metabolic testing

- Underlying etiology identified in ~ 1/4 cases of children with developmental delay:

- (50%) in children with GDD and motor delays- (5%) in children with isolated language disorders 8

THE END

ReferencesReferencesReferencesReferences

1. Elsabbagh, M., Divan, G., Koh, Y.-J., Kim, Y. S., Kauchali, S., Marcín, C., Montiel-Nava, C., Patel, V., Paula, C. S., Wang, C., Yasamy, M. T. and Fombonne, E. (2012), Global Prevalence of Autism and Other Pervasive Developmental Disorders. Autism Res, 5: 160–179. doi: 10.1002/aur.239

2.Fombonne E, Quirke S, Hagen A (2009) Prevalence and interpretation of recent trends in rates of pervasive developmental disorders. Mcgill J Med 12: 73.

3. Ozonoff S, Young GS, Carter A, Messinger D, Yirmiya N, Zwaigenbaum L, et al. Recurrence risk for autism spectrum disorders: a Baby Siblings Research Consortium study. Pediatrics. Sep 2011;128(3):e488-95.

4. Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F, et al. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet. Jan 2007;39(1):25-7

5. Christensen J, Grønborg TK, Sørensen MJ, Schendel D, Parner ET, Pedersen LH, et al. Prenatal valproate exposure and risk of autism spectrum disorders and childhood autism. JAMA. Apr 24 2013;309(16):1696-703.

6..Croen LA, Grether JK, Yoshida CK, Odouli R, Hendrick V. Antidepressant use during pregnancy and childhood autism spectrum disorders. Arch Gen Psychiatry. Nov 2011;68(11):1104-12.

7.Identifying infants and young children with developmental disorders in the medical home: an algorithm for developmental surveillance and screening. Pediatrics. 2006;118(1):405–420; Johnson CP, Myers SM, and American Academy of Pediatrics Council on Children With Disabilities. Identification and evaluation of children with autism spectrum disorders. Pediatrics. 2007;120(7):1183–1215.

8. Shevell MI, Majnemer A, Rosenbaum P, Abrahamowicz M. Etiologic determination of childhood developmental delay. Brain Dev. 2001;23:228–235.

1. Elsabbagh, M., Divan, G., Koh, Y.-J., Kim, Y. S., Kauchali, S., Marcín, C., Montiel-Nava, C., Patel, V., Paula, C. S., Wang, C., Yasamy, M. T. and Fombonne, E. (2012), Global Prevalence of Autism and Other Pervasive Developmental Disorders. Autism Res, 5: 160–179. doi: 10.1002/aur.239

2.Fombonne E, Quirke S, Hagen A (2009) Prevalence and interpretation of recent trends in rates of pervasive developmental disorders. Mcgill J Med 12: 73.

3. Ozonoff S, Young GS, Carter A, Messinger D, Yirmiya N, Zwaigenbaum L, et al. Recurrence risk for autism spectrum disorders: a Baby Siblings Research Consortium study. Pediatrics. Sep 2011;128(3):e488-95.

4. Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F, et al. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet. Jan 2007;39(1):25-7

5. Christensen J, Grønborg TK, Sørensen MJ, Schendel D, Parner ET, Pedersen LH, et al. Prenatal valproate exposure and risk of autism spectrum disorders and childhood autism. JAMA. Apr 24 2013;309(16):1696-703.

6..Croen LA, Grether JK, Yoshida CK, Odouli R, Hendrick V. Antidepressant use during pregnancy and childhood autism spectrum disorders. Arch Gen Psychiatry. Nov 2011;68(11):1104-12.

7.Identifying infants and young children with developmental disorders in the medical home: an algorithm for developmental surveillance and screening. Pediatrics. 2006;118(1):405–420; Johnson CP, Myers SM, and American Academy of Pediatrics Council on Children With Disabilities. Identification and evaluation of children with autism spectrum disorders. Pediatrics. 2007;120(7):1183–1215.

8. Shevell MI, Majnemer A, Rosenbaum P, Abrahamowicz M. Etiologic determination of childhood developmental delay. Brain Dev. 2001;23:228–235.