Autism

Rachelle Tyler, M.D., M.P.H.Associate Professor of Pediatrics

Developmental Studies Program

Department of Pediatrics

David Geffen School of Medicine at UCLA

Case Presentation

Birth History:

Female twin A of a 32-week gestation. Mother was 31years old at the time of the pregnancy. Mother had good prenatal care. She had placenta previa 27 weeksinto the gestation. Mother was hospitalized until the twins were born.

The twins were delivered by C-section as mother continued to have contractions and vaginal bleeding. The infant’s Apgars were 8 and 9. The infant remained in

theNICU for 6 weeks. She was treated for RDS, had apnea of prematurity, anemia of prematurity, and some feeding intolerance. She was discharged home in goodhealth.

Case Presentation

Twenty-One Months: History

She was eating well, had no problems with various textures of food,and was growing well. Her immunizations were up to date and she had a negative ROS.

Her parents were concerned about her being “hyposensitive” She liked to put objects in her mouth and would pick up lint off the floor and eat it. She was receiving occupational therapy for the hyposensitivity”. She had 20 to 30 words, but she did not consistently respond to verbal commands given to her by her parents.

Case Presentation

Twenty-One Months: Exam

She made intermittent eye contact with the examiner, but showed minimal wariness of the examiner as a stranger. She was pleasant, active, easily distracted by the noises in the clinic (e.g. other children crying) and did not remain on task for any significant periods of time. She showed no interest in language items and did not respond to verbal commands given to her by the examiner or her parents. Shewas scheduled for a follow-up appointment for 2-3 months.

Case Presentation

Twenty-Four Months: History

She continued to have no major medical problems. Her parents reported that she had about 300 to 400 words and that she spoke in phrases. They felt that she was responding to questions more so than she had been. They felt that her expressive language was ahead of her receptive language. She was not engaging in shared attention with them. She was very active and they were concerned about AD/HD.

Case Presentation

Twenty-Four Months: Exam

She showed minimal interest in any of the toys that

were presented to her. She spent most of the time

aimlessly wandering around the room. She did not

respond to her name being called either by the

examiner or her parents. She made minimal eye contact

with the examiner or her parents.

Case Presentation

Autism

Impairments in:

Reciprocal social interactions

Verbal and non-verbal communication

History of repetitive behaviors

AutismClinical Definition

• Heterogeneous neurodevelopmental disorder characterized by impairments in:– Reciprocal social interactions– Verbal and non-verbal communication– The range of activities or interests

Autism Spectrum Disorder(Prevalence)

• Prior 1985: 5 to 10/10,000

• Mid-nineties: CDC received calls about

• increasing prevalence

• Recent: 1 in 150 children

• Four males: one female

Autism Spectrum Disorder

• Postulates on increased prevalence– Greater awareness– More screening and evaluation– Broadened criteria (Autism, Autism Spectrum

Disorder, Asperger)– Labels get services– Assortive mating

Autism Spectrum Disorder(Etiology)

• Genetics—likely a polygenic disorder resulting from gene-environment interactions

• Possibly chromosomal “hot spots” with loci on 6,7,13,15, 16, 17, 22.

• Possible various environmental triggers in those who are genetically predisposed have not been identified

Autism Spectrum Disorder(Genetic Predisposition)

• More common in families who have a history of other psychiatric disorders (e.g. obsessive compulsive disorder, bipolar disorder)

• More common in families with another child with autismFive times greater risk for another child to have autismFifty percent chance if two children in family have autismSixty percent risk in dizygotic twinsNinety percent risk in monozygotic twins

• More common in families with other family members who havemild communication and social impairment problems

Autism(Diagnosis)

• Onset of symptoms prior to 3 years of age• Most commonly diagnosed between 2.5 to 5

years of age• Core symptoms:

Impaired social interactions/functioningImpairment in communicationRepetitive behaviors/limited repertoire of activities

Autism (Impaired Social Interactions)

• Minimally initiates activity with others

(especially other children)

• Minimally responds appropriately when

approached by other children

• Uses others as objects

Autism (Impairment in Communication)

• Does not talk by 18 months

• Regression of language skills between 16-24 months

• Minimally orients to name being called

• Echolalic speech without comprehension of what they are saying

• Words and phrases are out of context

Autism(Restricted Activities/Interests)

• Ritualistic Behaviors (e.g. hand-flapping)

• Intolerant of changes in daily routine (e.g. changes in daily traveling routes)

• Difficulty with transitions (e.g. from outside to inside)

Detection of Developmental Disabilities in Children

• Approximately sixteen percent (16%) of children have developmental disabilities

• Less than thirty percent (30%) are detected

• Subtle disabilities are difficult to detect at younger ages

• Detection must be done early for intervention to occurs

Mandate on Developmental Screening

• Title V of Social Security Act and Individuals with Disabilities Education Improvement Act (IDEA 2004)– “Child health care professionals to provide early

identification and intervention for children with developmental disabilities through community based collaborative systems”

Mandate on Developmental Screenings

• AAP Policy Statement: July 2006– Identification of infants and young children with

developmental disorders in the medical home– Developmental assessment in the medical home

• Surveillance

• Screening

• Evaluation

Mandated Screening Intervals

• General Development:Nine monthsEighteen monthsThirty monthsFour yearsAny time that a parent/guardian has a concern

• Autism:Eighteen monthsTwenty four monthsThirty months

Screening Tools

• Formal Screening (General Development):PEDS (Parent’s Evaluation of Developmental Status)Ages and StagesDenver Developmental Screening

• Formal Screening Tools (Autism):CARS (Childhood Autism Rating Scale)MCHAT (Modified Checklist for Autism in Toddlers)CHAT (Checklist for Autism in Toddlers)

Child’s Name Filled out by: Date of Birth Relationship to child Today’s date

Modified Checklist for Autism in Toddlers (M-CHAT) Please fill out the following about how your child usually is. Please try to answer every question. If the behavior is rare (e.g., you've seen it once or twice), please answer as if the child does not do it. 1. Does your child enjoy being swung, bounced on your knee, etc.? Yes No 2. Does your child take an interest in other children? Yes No 3. Does your child like climbing on things, such as up stairs? Yes No 4. Does your child enjoy playing peek-a-boo/hide-and-seek? Yes No 5. Does your child ever pretend, for example, to talk on the phone or take care of dolls, or pretend other things? Yes No 6. Does your child ever use his/her index finger to point, to ask for something? Yes No 7. Does your child ever use his/her index finger to point, to indicate interest in something? Yes No 8. Can your child play properly with small toys (e.g. cars or bricks) without just mouthing, fiddling, or dropping them? Yes No 9. Does your child ever bring objects over to you (parent) to show you something? Yes No 10. Does your child look you in the eye for more than a second or two? Yes No 11. Does your child ever seem oversensitive to noise? (e.g., plugging ears) Yes No 12. Does your child smile in response to your face or your smile? Yes No 13. Does your child imitate you? (e.g., you make a face-will your child imitate it?) Yes No 14. Does your child respond to his/her name when you call? Yes No 15. If you point at a toy across the room, does your child look at it? Yes No 16. Does your child walk? Yes No 17. Does your child look at things you are looking at? Yes No 18. Does your child make unusual finger movements near his/her face? Yes No 19. Does your child try to attract your attention to his/her own activity? Yes No 20. Have you ever wondered if your child is deaf? Yes No 21. Does your child understand what people say? Yes No 21. Does your child sometimes stare at nothing or wander with no purpose? Yes No 23. Does your child look at your face to check your reaction when faced with something unfamiliar? Yes No ©1999 Diana Robins, Deborah Fein, & Marianne Barton http://www.dbpeds.org/media/mchat

Autism Spectrum Disorder(Differential Diagnosis)

• Mental retardationSocially interactive at cognitive levelLanguage skills are more related to cognitive age

• Chromosomal disorder Fragile X Slow to normal development Regression after 1 year of ageRett’s syndrome Deceleration in head growth

Neurodegenerative

Autism Spectrum Disorder(Diagnosis)

• Complete history with focus on time of onset and severity of difficulties

• Physical exam with focus on ruling out dysmorphic features (e.g. epicanthal folds, short fingers)

• Rule out hearing deficit—no more than 20db loss• Rule out visual deficit• Laboratory tests (chromosomal analysis if dysmorphic

features present)

Autism Spectrum Disorder(Evaluations)

Evaluation Tools:

• Bayley III

• ADOS (Autism Diagnostic Observation Schedule)

• Wechsler Intelligence Scale for

Children (WISC-III)

Autism Spectrum Disorder

• High functioningNormal cognitionCommunication may be good, but

concreteAsperger syndrome—normal or close to normal language

• Low functioningLow IQ (<70)Poor communications skillsRepetitive behaviors

Autism Spectrum Disorder(Associated Disorders)

• Problems with sensory integration (e.g. textures, everyday sounds)

• Seizures—20 to 30% by adulthood

• Tourette’s syndrome

Autism Spectrum Disorder(Management)

• Life-long• Goal—work towards as much independence as

possible• Early intervention• Specific interventions—speech/language therapy,

occupational therapy, feeding therapy, applied behavioral analysis, social skills training

• Parent education, counseling, and support groups

Autism Spectrum Disorder(Interventions)

• Behavioral– Applied behavioral analysis– Floor-time– Pivotal response

• Speech/language therapy– Individual– Group

• Occupational therapy– Individual– Group

Autism Spectrum Disorder(Medications)

Antidepressants for anxiety symptoms

Anti-psychotics for severe behavioral problems

Stimulants to decrease hyperactivity

Autism Spectrum Disorder(Resources)

• Regional Centers

• Local School Districts

• Community Professionals (e.g. psychiatrists, psychologists, social workers, occupational therapists, speech therapists)

Autism Spectrum Disorder(Prognosis)

Good prognosis:

Speech present prior to 5 years of age

Performance IQ over 70

Highly structured environment

Case Presentation

Fifty-Eight Months: History

Had been attending a small private preschool setting with a

one-on-one with her and had been receiving in-home

behavioral interventions. She had difficulty following group

instructions. She was easily distracted and had frequently

had to be called back to task. She was able to keep up with

the school work that was being presented to her.

Case Presentation

Fifty-Eight Months: Exam

She made good eye contact with the examiner and her mother. She engaged in social referencing with her mother and the examiner. She was very active and frequently had to be called back to task. She spoke in complete sentences and her words were generally in context. Her overall developmental skills were within the normal limits

Autism Spectrum Disorder

Questions?