AUTISM

Morning Report

WHAT THE GENERAL PEDIATRICIAN NEEDS TO KNOW

WHAT IS AUTISM?

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 CDCs ADDM network

Identical Twins: if one has an ASD, then the other will be affected about 60-92% of the time. Nonidentical twins: if one has an ASD, then the other is affected 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 also affected 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-related genetic changes is ~25%.

DIAGNOSIS & CLINICAL FEATURES

CASE #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 skills and inconsistent imitation skills. His communication development was delayed; he began using vocalizations 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 were not 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 was absent. He often appeared to be non-engaged and responded inconsistently to his 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 greatest impact

DSM-V NEW CRITERIA

DSM-IV:

Outlined 5 Pervasive Development Disorders: Autistic Disorder, Aspergers, Retts, Childhood Disintegrative Disorder, 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 who have 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 social and 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
3 - Severe 2 - Moderate 1 - Mild

Social Behavior
Few intelligible words Speaks few sentences, odd Doesnt have friends

Repetitive/Restrict ive Behavior

Extreme Inflexibility Difficulty coping with change 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 object and 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 peoples interests, emotions, and feelings Difficulty making friends or sharing imaginative play

SOCIAL- MASTERING 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 laterfunctional language!!

SOCIAL CLINICAL PROBES

12-15 mo- Hey! Look at the Tap, come look at the Call the childs name or have parent call childs name and look for response Bubble Game

COMMUNICATION AND LANGUAGE

Unusually quiet with few vocalizations Difficulty using language to communicate ideas Language deviance-large vocabularies but difficulty putting meaningful sentences together. Imparting information without acknowledging response Impaired nonverbal communication Limited babbling in the first year of life-stereotyped clicks, screeches, humming, grunting, inappropriate laughter, and nonsense syllables Poor receptive language skills-saying more than they understand

COMMUNICATION CONTINUED
Words and entire sentences can drop in and out of the childs 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 LANGUAGE
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 youre 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 left alone 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?

ASD Video Glossary Courtesy of First Signs Inc. Autism Speaks Its time to listen.

SOCIAL INTERACTION NONVERBAL BEHAVIORS 2, 3

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 parents of 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, febrile seizures Lack of temperature elevations with illness Lack of malaise with illness

CO-MORBIDITIES DONT JUST ASSUME HIS

BEHAVIOR IS A REFLECTION OF HIS AUTISM

If Dysmorphic Facies

Consider Genetics consult/DNA analysis Consider EEG/neurology consult if history indicates seizure like activity or symptoms of regression

Seizures 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 the child. Sensory Disintegration heightened response to shots, procedures

SOMETIMES ITS NOT SO EASY

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

RESOURCES

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:

Dont underestimate a person with autism. Try to understand them. --Unknown

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

For all the misleading info about autism you can find visit, Jenny McCarthys non-profit, http://www.generationrescue.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