Autism Spectrum Disorders Judith A. Axelrod, M.D. Developmental-Behavioral Pediatrician Square One Specialists in Child and Adolescent Development Professor of Pediatrics University of Louisville School of Medicine

Disclosures A. “I have no relevant financial relationships with the manufacturers of any commercial products and/or provider of commercial services discussed in this CME activity.” B. “I do not intend to discuss an unapproved/investigative use of a commercial product/device in my presentation.”

Autism Spectrum Disorder Described in 1943 by Dr. Leo Kanner Study of 11 children Early infantile autism Characterized by social differences Dr. Hans Asperger Described milder form of disorder Asperger syndrome

Autism Spectrum Disorder/ Pervasive Developmental Disorders DSM-IV-TR (APA, 2000) 5 disorders under the PDD umbrella Qualitative impairments of communication Qualitative impairments of social skills Restricted, repetitive, and stereotyped patterns of behavior, interests, and activities

PDD Umbrella Asperger’s Autism Childhood Disintegrative N.O.S. Rett’s

Autism Spectrum Disorders Social communication skills<cognitive skills PDD-NOS Sub-threshold Autism Asperger Syndrome Social interaction deficits and restricted interests Child Disintegrative Disorder Normal development for first 2 years of life Rett Syndrome

Social Communication Disorders Autism Asperger’s Disorder Pervasive Developmental Disorder, NOS

Development of social communication Within the first and second year of life children develop: Sense of self Capacity to judge form evidence Ability to integrate ideas from past experience Ability to appreciate psychological state of another person

Social communication Teasing Helping Comforting

Development of social communication During the first and second year of life children Show interest in other people Show curiosity about feelings and thoughts

Pretend Make believe play

Social Communication requires: Joint attention Effective reciprocity or emotional sharing The ability to realize that another person has thoughts and ideas similar to you

Theory of Mind Understanding the desires of another Understanding the emotional state of another person Having the ability to figure out what a person’s intentions are Knowledge that what you are thinking can be conveyed to others through nonverbal means

Case study Joseph is a 2 ½ year old male who lives “in his own world”. During his first year of life he was playful and interactive. He spoke single words at 8 months. At 15 months he had a 9-15 word vocabulary. At 18 months an insidious regression of his language and communication skills began. By 2 years, Joseph spoke 4 words; he did not give eye contact. He did not share his joys.

Autism Spectrum Disorder Neurobiological disorder Inconsistency of development Expression of symptoms varies with age and developmental level of person

Autism Universally considered a neurobiological disorder No specific etiology Likely complex etiology Genetics Environmental factors Associated conditions

Genetic Aspects 5% recurrence risk Concordance in 90% monozygotic twins Concordance in <10% dizygotic twins Mild associations with genetic syndromes Fragile X syndrome (3%) Tuberous Sclerosis (2-5%)

Associated with Autism perhaps by chance Neurofibromatosis Cornelia de Lange Syndrome Angelman Syndrome Down Syndrome Intrauterine exposure to: Rubella CMV Varicella

Autism Facts Common (1:160) More common in boys Occurs across all populations Cause is not known Considered a spectrum disorder

Associated medical conditions Mental retardation Seizures Two phases of presentation Early childhood Late adolescence Linked to evidence of brain dysfunction/damage

Autism through the lifespan Infants and toddlers Easy going “too good” baby Baby with sensory processing abnormalities Difficulty regulating behavior Overexcited, fussy, crying inconsolably

Infants and Toddlers Poor imitation Abnormality in eye contact Under responsive to people Bland facial expressions with less smiling High tolerance to pain, cold, or heat Hypersensitive to taste, touch

Early Indicators Lack of pretend play No point to express interest Poor joint attention Inefficient use of eye gaze Communication deficits Poor response to name

Other Indicators Speech delay Acts as if cannot hear well/ignores In own world Abrupt decline in use of words 18-24 mos. Repetitive play Unusual play/TV preferences

Early Childhood Typically most obvious signs and symptoms of Autism Ages 4-5 years standard age in determining severity of Autism Repetitive and stereotypic behaviors emerge and peek at 5-7 years Special interests and sameness emerge Obsessions and compulsions

Common Features Repeated body movements/stereotypies Hand flapping, pacing, unusual inspection, opening and shutting doors, staring at lights Attachments to objects Resistance to change Difficulties with transitions Aggression Self injurious behaviors (rare)

Common Features, continued Sensory issues Difficulty with generalization Overselectivity Splinter skills

Middle Childhood Subtypes emerge Stereotypies diminish Aloof Passive Active but odd Stereotypies diminish Divergence of population with language acquisition and developing cognitive skills

Associated findings Clumsiness Dyspraxia Sensory processing difficulties Hypotonia Joint laxity Toe walking

Adolescents Continued difficulty with social and pragmatic language Some seek to develop social skills Refinement of special interests Increased anxiety, some have deterioration but regain later

Adults Vastly differing outcomes 1/3 able to care for self, achieve some independence, have some friends, live independently or with support, work Nearly 70% have fair to good language Marriage is rare

Adults continued About 45% have poor outcome Dependent on family or living in residential setting Major seizures, behavioral problems, continued dependency Increased rates of depression and anxiety

PDD Umbrella Asperger’s Autism Childhood Disintegrative N.O.S. Rett’s

Asperger syndrome continued No apparent cognitive impairment No apparent receptive or expressive language impairment

Asperger Syndrome Impairment in social interaction Restricted, repetitive, and stereotyped patterns of behavior

Ian is a 12 yr old who is described as a bright, witty, intelligent youngster who talks constantly. He is curious and persistent. He is anxious, argumentative and has trouble with transitions. Ian has a history of repetitive behaviors described as facial grimacing, finger rituals. He has unusual speech patterns. Adults are more tolerant of him than same aged peers. He has few friends. Parents report that Ian is an only child because life is very difficult with him and he requires much time and effort. Ian has Asperger Disorder.

Asperger Syndrome Normal language development No delay in receptive and expressive language milestones Language skills are defined as normal especially in early life No delay in cognition or adaptive behaviors in early life

Asperger Syndrome Qualitative impairments in social interaction 1. Impaired nonverbal behavior Poor eye gaze Poor use of facial expression Poor use of gestures to regulate interaction

Asperger Syndrome Qualitative impairments in social interaction Impaired social communication Rigid Excessive or tedious Pedantic Narrow range of interests

Nonverbal Learning Disorders Some experts believe that NLD and Asperger Syndrome are one and the same Clinical presentation is similar with Asperger Syndrome

NLD Characteristics Composed of a constellation of skill deficits that impact all aspects of living. Poor nonverbal problem solving Significant discrepancy between verbal and nonverbal cognitive abilities Much lower nonverbal than verbal

NLD continued Difficulty correctly processing and attending to tactile and visual modalities. Psychomotor coordination difficulties or physical awkwardness. Specific weaknesses in social perception and social judgment. Significant problems in adapting to new or complex situations.

NLD Risks Social withdrawal and social isolation which may worsen as they get older. Predisposed to have internalizing psychological disorders such as depression and anxiety. Often diagnosed (misdiagnosed?) with ADHD due to poor organizational skills, poor planning and impulse control difficulties. Perceptual difficulties of NLD can interfere with reading, math, spelling.

PDD Umbrella Asperger’s Autism Childhood Disintegrative N.O.S. Rett’s

PDD:NOS/Atypical Autism Criteria not met for another ASD/PDD Impairments in social interaction WITH Impairments in verbal and nonverbal interactions OR stereotyped behaviors, interests or activities

Autism Spectrum Disorders: Associated problems Attention problems Impulse control difficulties Sleep problems Obsessive compulsive behaviors Self-injurious behaviors Tics Depression Anxiety

PDD Umbrella Asperger’s Autism Childhood Disintegrative N.O.S. Rett’s

Childhood Disintegrative Disorder Normal development 1st 2 years Significant loss of skills (before 10 years) in at least 2 areas: Expressive or receptive language Social skills or adaptive behavior Bowel or bladder control Play Motor skills

Childhood Disintegrative con’t Abnormalities of functioning in at least 2 of the following areas: Qualitative impairment in social interaction Qualitative impairments in communication Restricted, repetitive, and stereotyped patterns of behavior, interests, and activities

Level One Assessment A screening Developmental surveillance by providers performed at every well child visit A starting level evaluation for children referred for developmenal difficulties

Level One, continued Use broad-band screening questionnaires Listen to parental concerns about child’s development Ask specific developmental probes regarding speech-language, social, and behavioral development

Examples of Parent Concerns Acts as if cannot hear well Not talking like should Acts as if in his own world A loner Does same play over and over Odd interests

Absolute Indicators for Level Two Evaluation No babbling by 12 months No gesturing by 12 months No single words by 16 months No 2-word spontaneous phrases by 24 months Any loss of any language or social skills at any age

Diagnosis and Assessment of Autism Level Two Evaluation Diagnosis and Assessment of Autism

Diagnostic Toolbox Input from team Input from parents Input from school Direct observation Cognitive measures Adaptive measures Diagnostic measures Clinical judgment

Cognitive Measures No cognitive pattern confirms or excludes a diagnosis of Autism (but may help in differentiation of Asperger Syndrome or Nonverbal Learning Disorder). Essential for educational planning Provides a full range of standard scores (floor)

Adaptive Measures Essential in the diagnosis of mental retardation Provides information regarding social and communication functioning Example: Vineland Adaptive Behavior Scales

Input from Speech-Language Pathologist Measures of receptive language Measures of expressive language, including both communicative means (how) and communicative functions (why) Measures/observations of play and social skills Pragmatics

Medical Diagnostic Measures Comprehensive Physical and Neurological examination Laboratory evaluation High resolution chromosome analysis DNA for Fragile X Syndrome Thyroid function testing Plasma amino acid screen Urine Organic acids Comparative Genomic Hybridization Study

Medical Diagnostic Measures MRI of brain Sleep deprived EEG

Screening and Diagnostic Measures Various standardized questionnaires and structured interviews are part of a thorough assessment for ASD. Standardized measures can help by providing information regarding: Symptoms Primary domains of deficits Severity of symptoms / deficits

Screening and Diagnostic Measures Autism Diagnostic Interview – Revised Autism Diagnostic Observation Schedule Childhood Asperger Syndrome Test Checklist for Autism in Toddlers Social Communication Questionnaire Gilliam Autism Rating Scale Childhood Autism Rating Scale

Intervention Early identification Speech-Language Therapy Occupational Therapy Physical Therapy Interaction with same aged normal peers

Intervention Development of a communication system Picture Exchange Communication System (PECS) Visual schedules Visual cues Social skills training Social stories Play groups

Intervention Analysis of behavior for appropriate behavioral intervention (e.g., ABA) Intensive behavioral approach Goal is to teach children how to learn by focusing on building blocks of development Developmental, individual-difference, relationship-based (DIR) / Floortime Use of play to build relatedness (e.g., warmth, pleasure, meaningful communication, creativity)

Educational Intervention Teachers need specific training in the education of children with Autism Intensive Speech-Language therapy Collaboration between therapist, parents, and teacher is critical Promote behaviors with positive behavioral strategies Use of visual and manipulative educational materials

Educational Intervention Visual communication aids Visual schedule, chart of daily activities Social skills training Buddy system Social stories Positive reinforcement for positive behaviors

Key Issues for Intervention Early intervention is critical Communication Social Skills Development Gradual increase in prosocial behaviors Development of self & awareness of others

Medication There are no medications that “cure” Autism. Medication should be used for specific symptoms.

Specific symptoms for medication Anxiety Obsessive-Compulsive behaviors Depression Self abusive behaviors Aggression Sleep deprivation

Medications Used Selective Sertonin Reuptake Inhibitors (SSRI) Prozac (Fluoxetine) Zoloft (Sertraline) Celexa (Citalopram) Neuroleptics Risperdal(Risperidone) Zyprexa (Olanzapine) Geodon (Ziprasidone) Abilify (Aripiprazole)

Medications Used Continued Alpha adrenergic agonists Clonidine Guanfacine Mood stabilizers Depakote (Valproic acid) Tegretol (Carbamazepine) Antiopiod Naltrexone

Alternative Therapies unproved Gluten-Casein Free Diet Based on toxicologic opioid hypothesis Nutritional Supplements Based on hypothesis that minerals and/or vitamins improve “autistic behaviors” Immune globulin therapy Based on assumption Autism is an autoimmune abnormality Secretin Intravenous hormone that stimulates pancreas and liver to manage “autistic behaviors” Chelation Based on hypothesis that mercury exposure is cause of Autism

Autism and learning The child with autism can learn skills for communication, can develop the skills for emotional and social relationships, and can learn to diminish stereotypical behavior. No one particular program works for all children.

Autism Autism is a lifelong developmental disorder.

Autism There is no “cure” for Autism. Prognosis is dependent on cognition and the ability to develop social skills. Early intervention is critical and optimizes treatment.

The following organizations can offer information and support: Autism Society of America (ASA) www.autism-society.org/ 7910 Woodmont Avenue, Suite 300, Bethesda, Maryland 20814-3067, 1-800-3-AUTISM, National Autism Hotline, P.O. Box 507, Huntington, West Virginia 25710-0570, (304) 525-8014, fax (304) 525-8026. Autism Research Institute, http://autism.com/ 4182 Adams Avenue, San Diego, California 92116, (619) 281-7165, fax 619-563-6840. MAAP, More Advanced individuals with Autism, Asperger’s syndrome and Pervasive Developmental Disorder,

Information and Support Autism Society of Kentuckiana www.ask-lou.org/ P.O. Box 90, Pewee Valley, KY 40056, Autism Society of the Bluegrass http://asbg.org/ 243 Shady Lane, Lexington, KY 40503-2034, (859) 278 4991 Indiana Resource Center for Autism http://www.autismindiana.org/ Susan Pieples, President P.O. Box 1064, Carmel, Indiana 46082 (317) 695-0252, susan@broadhorizons.us.

Information and Support University of Louisville Autism Center at Kosair Charities, 1405 E. Burnett Avenue, Louisville KY 40217, (502) 852-1300 http://louisville.edu/autism/ FEAT of Louisville 1100 East Market Street Louisville KY 40206 (502) 596-1258 http://www.featoflouisville.org/