autism for pediatricians

7/27/2019 Autism for Pediatricians

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AUTISM Morning Report



WHAT THE GENERAL PEDIATRICIAN

NEEDS TO KNOW



WHA

T I S A UT

I S M?

Autism spectrum disorders (ASD) are

a group of neurodevelopmental

disorders defined by qualitative

impairments in:

communication and social interactions

restricted interests and activities

stereotypical behaviors



“ON THE SPECTRUM”

Estimated Prevalence 1 in 88 in US Children based on CDC’s ADDM network

Identical Twins: if one has an ASD, then the other

will be affected about 60-92% of the time. Non-identical twins: if one has an ASD, then the other isaffected about 0-31% of the time

Parents who have a child with an ASD have a 2% –18% chance of having a second child who is alsoaffected

4:1 ratio of male to female



GENETICS

Many theories….

Highly heritable; but some environmental

component too

Several genes have been associated Because phenotype is widely variable, ASD may

represent a common manifestation of multiple

genetic disorders

Currently, percentage of children with ASD-relatedgenetic changes is ~25%.



DIAGNOSIS & CLINICAL FEATURES



C ASE #1 AJ was a full-term baby delivered with no complications.

His mother reported that as a baby and toddler, he was healthy

and his motor development was within normal limits for the major milestones of sitting, standing, and walking.

At age 3 he was described as low tone with awkward motor skillsand inconsistent imitation skills.

His communication development was delayed; he began usingvocalizations at 3 months of age but had developed no words by

3 years. AJ communicated through nonverbal means and used

communication solely for behavioral regulation. He communicated requests primarily by reaching for the communication

partner's hand and placing it on the desired object.

He knew about 10 approximate signs when asked to label, but these werenot used in a communicative fashion.

Protests were demonstrated most often through pushing hands. AJ played functionally with toys when seated and used eye gaze

appropriately during cause-and-effect play, but otherwise eye gaze wasabsent.

He often appeared to be non-engaged and responded inconsistently tohis name.



SCREENING GUIDELINES

AAP recommends that all children be screened for

ASD with an autism-specific tool at the 18 month

and the 24 or 30 month well-child assessments.

It is important to re-screen children for ASD after

the 18 month visit since one in four children with an

ASD can have regression of previously acquired

skills, especially language, around 18 to 24 months.

A positive screen does NOT mean that the child

has autism. It only means that they are high risk for developmental concern and need referral to a

specialist.



SCREENING GUIDELINES (CONT.)

2+ risk factors: older sibling, parental concern,

physician concern = 3 referrals: Audiology,

Developmental Pediatrician, Early Intervention

1+ risk factor: screen with 1 month follow-up

MCHAT (16-30 mos)- Se of 0.87 and Sp of 0.99

PPP of 0.85 and NPP of 0.93

ADOS, ADI gold standard

Intervention before 3.5 years has the greatestimpact



DSM-V NEW CRITERIA

DSM-IV:

Outlined 5 Pervasive Development Disorders: AutisticDisorder, Asperger‟s, Rett‟s, Childhood DisintegrativeDisorder, or PDD NOS

DSM-V: Autism Spectrum Disorder (ASD) Restricted criteria so about 15-17% of kid who previously

qualified will not qualify with new criteria; however those whohave already qualified with DSM-IV will be „grandfathered‟ in.

Persistent difficulty in social communication and social

interactions across multiple contexts Restricted, repetitive patterns of behavior, interests, or

activities.

Symptoms cause clinically significant impairment in socialand occupational functions.



DSM-V NEW CRITERIA (CONT.)

Criteria basically the same but took out language delay

as a requirement and added in reactions to sensory

input or unusual interests in sensory aspects of the

environment

Severity Level Social Behavior Repetitive/Restrict

ive Behavior

3 - Severe Few intelligible

words

Extreme Inflexibility

2 - Moderate Speaks fewsentences, odd

Difficulty copingwith change

1 - Mild Doesn‟t have

friends

Difficulty with

transitions



SOCIAL- PROBLEMS WITH RECIPROCITY

No social smile

No anticipatory posture for being picked up

Poor eye contact

Impaired attachment behavior

Cannot differentiate important people-parents,siblings, teachers

Extreme anxiety with change

No joy in sharing

Difficulty alternating attention between and objectand an event

Awkward/Inappropriate social behavior

Difficulties with verbal reasoning



SOCIAL- “THEORY OF MIND”

Cannot infer the feelings or mental state of others

Cannot make attributions about the motivation or

intentions of others

Cannot develop empathy Cannot interpret social behavior of others

Difficulty responding to other people‟s interests,

emotions, and feelings

Difficulty making friends or sharing imaginative play



SOCIAL- M ASTERING JOINT ATTENTION

10 months-follow shifting gaze

10-12 months-follow a point and respond

12-14 months “requesting” point

14-16 months “comment” point 18-24 months triadic-child, object, caregiver

14-16 months-bring an object to parents

And 1 year later…functional language!!



SOCIAL CLINICAL PROBES

12-15 mo- Hey! Look at the… Tap, come look at

the…

Call the child‟s name or have parent call child‟s

name and look for response

Bubble Game



COMMUNICATION AND L ANGUAGE

Unusually quiet with few vocalizations

Difficulty using language to communicate ideas

Language deviance-large vocabularies but difficultyputting meaningful sentences together.

Imparting information without acknowledgingresponse

Impaired nonverbal communication

Limited babbling in the first year of life-stereotyped

clicks, screeches, humming, grunting, inappropriatelaughter, and nonsense syllables

Poor receptive language skills-saying more thanthey understand



COMMUNICATION CONTINUED

Words and entire sentences can drop in and out of

the child‟s vocabulary for a week, a month, or years

Immediate and delayed echolalia-compulsive

repetition of words spoken by somebody else

Use of out of context, stereotyped phrases

Pronoun reversal- “You want the toy.”

Peculiar voice quality and rhythm

50% never develop useful speech Fascination with letters and numbers

Hyperlexia-fluent reading, ABCs, ads, jingles



NORMAL L ANGUAGE

6 mos- normal babbling, ba ba to ba da pa pa da

da, babbling then silence

10-12 mos- inflection with animated gibberish

12 mos – say single words like mama, dada, up,bye, this, that, juice

24 mos – putting two words together (mama up);

large vocabulary of words



9 AND 12 MONTH CLINICAL PROBE

Look at you while you‟re speaking?

Babbles in turn?

Varied vocalizations?

Gestures? Waves Bye Bye?

Call out name…



15-24 MONTH CLINICAL PROBE

Unusual vocalizations?

Pop up words?

Exceptional labeling of shapes, colors, numbers?

Echolalia? Sentences spoken as a single word Whatisit?

Ritualistic, non functional speech?



STEREOTYPED BEHAVIOR

Absent spontaneous, exploratory play

Ritualistic manipulation of toys and objects with few

symbolic features

Compulsive phenomenon-spin, bang, line ups Lack of imitative play or abstract pantomime

Rigid, repetitive, and monotonous play

Attachment to inanimate objects

Stereotypies, mannerisms, and grimacing when leftalone

Temper tantrums with moving objects or routine

changes



TYPICAL PLAY

4 mos- sensorimotor play

8-10 mos- throwing and banging

12- 14 mos- towers

16-18 mos- simple pretend play 18-20 mos- complex pretend play



CLINICAL PROBE FOR BEHAVIORS

12 and 18 month- favorite toys, manner of play?

>2 y/o:

Hand flapping?

Twirling? Finger movements?

Rocking?

Head nodding?

Toe walking?

Licking?

Sniffing?



S O C I AL I NT E RA C T I ON– N

ONV E RBAL BE HAV I OR S – 2 , 3

ASD Video

Glossary

Courtesy of First

Signs Inc.

Autism Speaks

It‟s time to listen.



OTHER CLINICAL FEATURES

Instability of mood and affect-laughing and crying

bursts

Response to sensory stimuli-music, vestibular

stimulation, wrist watch, sound, pain

Hyperkinesis

Aggression and Tantrums

Self injurious behavior

Short attention span Lack of focus

Insomnia

Feeding problems



WE COULD DO BETTER…

A study published in the Archives of Pediatrics and

Adolescent Medicine found that parents of children

with autism were less likely to report that their

children received the type of primary care

advocated by the AAP when compared to parentsof children with other special health care needs.

The "medical home model," which is defined by the

AAP as accessible, continuous, comprehensive,

family-centered, compassionate, culturally effective,and coordinated with specialized services was used

as a measure for ideal primary care of children.



TREATMENTS

Mostly Behavioral Therapy – to improve daily

function

Medicine:

Risperidone – FDA approved for aggression, irritability

Aripiprazole – FDA approved for aggression, irritability



RELATED DISORDERS AND PHYSICAL ILLNESS

1% of children with autistic disorder also have

fragile X syndrome

2% of children with autistic disorder also have

tuberous sclerosis

70% of children with autism have ID

4-32% of people with autism have grand mal

seizures

Higher incidence of URIs, GI symptoms, febrileseizures

Lack of temperature elevations with illness

Lack of malaise with illness



CO-MORBIDITIES – DON‟T JUST ASSUME HIS

BEHAVIOR IS A REFLECTION OF HIS AUTISM

If Dysmorphic Facies… Consider Genetics consult/DNA analysis

Seizures Consider EEG/neurology consult if history indicates seizure

like activity or symptoms of regression

Sleep Disturbances Consider good sleep hygiene, behavioral management

Allergies – immune dysfunction in Autism

Autoimmune Disorders – Celiac, Crohns, UC

Autonomic Instability (increased sympathetic drive)

Mitochondrial Disorders Other GI disturbances (Chronic Constipation, Diarrhea)

Pica Consider Lead screening



WHEN EXAMINING IN OFFICE…

Difficult with transitions: tell them what you are

going to do multiple times before acting

Get the parents on board – they know their child

best. Ask them how the child will respond to being

examined. Ask them how to best approach thechild.

Sensory Disintegration – heightened response to

shots, procedures…



SOMETIMES IT‟S NOT SO E ASY

May seek comfort or attention when injured or

anxious

Can and frequently do form attachments

Can develop primitive pointing

Joint attention not universally present at 1 year

Precocious language skills

Excelling at trial and error tasks

Advanced motor skills Kids with ID also have impaired pretend play



RE S O UR C E

S

“Don‟t underestimate a

person with autism. Try

to understand them.”

--Unknown

Autism Science Foundation:

http://www.autismsciencefoundation.org/

Medical home portal:

http://www.medicalhomeportal.org/ Leading autism science & advocacy org:

http://www.autismspeaks.org/

Learn the Signs. Act Early:

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

For all the misleading info about autism you can

find visit, Jenny McCarthy‟s non-profit,

http://www.generationrescue.org/


http://www.medicalhomeportal.org/










http://www.medicalhomeportal.org/






REFERENCES

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

www.autismsciencefoundation.org

Bauman ML, Medical comorbidities in autism:

challenges to diagnosis and treatment.

Neurotherapeutics. 2010 Jul;7(3):320-7.

www.autismspeaks.org/

Debbie Bilder, University of Utah, Medical Director of

Neurobehavior HOME program


http://www.ncbi.nlm.nih.gov/pubmed/20643385





http://www.ncbi.nlm.nih.gov/pubmed/20643385



autism for pediatricians

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