Autism Spectrum Disorders (ASD)

ASD

A class of neurodevelopmental disorders characterized by: 

• An impairment in social reciprocity, atypical communication in multiple contexts

• Restricted and repetitive behaviors (RRBs) and interests

  • with or without ID

  • with or without language impairments

  • social pragmatic communication disorder without RRBs 

• these disorders occur along a continuum in regard to severity (Levels 1-3) 

• there is no cure 

• lifelong disability with a variety of outcomes 

• may include different responses to sensory information, may demonstrate difficulty managing changes in routine

• neurodiversity 

deficits in social interaction

• impaired non verbal behaviors such as eye contact, facial expression, body posture, and gestures (may be apparent from birth)

• failure to develop peer relationships and friendships

• lack of spontaneous seeking to interact with others to share pleasure with others 

• lack of social and emotional reciprocity (turn taking, shared meaning) 

• difficulty understanding what behaviors expected by others 

deficits in communication 

• delay or lack of spoken langugae (may be noticed at 12-36 months when language skills should increase) 

• inability to initiate or sustain conversation 

• repetitive use of language; scripting which is repeating invaluable leanguage information such as commericals or TV program scripts

• decreased imaginative play

examples of restricted and repetitive behaviors (RRBs)

• preoccupation with patterns with anormla inensity or focus

• unable to change routine or rituals, become upset with change

• repetitive motor mannerisms, such as hand flapping, rocking, finger flicks, blinkin, dangling items

• preoccupation with object parts, such as obsessed with the wheels spinning on cars and does not play with the car appropriately

types of ASDs in DSM-IV

• autistic disorders

• Asperger’s disorder

• Rett’ss disorder (females primarily affected)

• Childhood Disintegrative Disorder (CDD)

• Pervasive Developmental Disorder - not otherwise specified (PDD-NOS)

DSM-5 criteria for ASD

Now there is one universal ASD diagnosis (no longer

subtypes such as Asperger syndrome, Rett disorder, etc.)

- Now language for with or without intellectual impairment andwith or without language impairment

- Age of onset change from “age three” to “early childhood”

- Level classification= 2013, DSM 5

• Social Pragmatic Communication Disordercategory added (recognizes RRB may not be present)

• Defcits in recognizing use of language is contexts, nonverbal cues, turn taking

• Atypical development

• At birth may be averse to eye contact, aloof

• Perhaps not until1-3 years do characteristics emerge, especially language delay or loss of language

level 1 (ASD)

requiring support

level 2 (ASD)

requiring substantial support

level 3 (ASD)

requiring very substantial support 

etiology of ASD (biology)

No single cause. Likely interaction of biology, genetic, environmental factors.

Biology

• Differences in brain growth in frontal and temporal lobes (may begin in the 2nd trimester) cognition, language, social, emotional skills

  • Excessive neurons

  • Abnormally rapid growth and large brain volume in 2- to 4-year-olds. Slower growth associated with better skill development

• Eye contact differences in infancy = DEC opportunities for learning social skills, focus on objects

• Differences in how brain areas communicate – fewer connections front to back, long range, and across

characteristics of brain structure

• Variability in the volume in the cortex.

• Increased head size as an infant, then regulates in childhood.

• Difficulties with brain studies are because the neuron development, and structural sizes are different between individuals.

  • Thoughts on variations with hippocampus, amygdala, cerebellum

  • Abnormal neurons in the wrong layers of the brain

etiology of ASD (genetics)

• Genetics are involved in a majority of cases but not one gene

  • Children born to older parents (father) are at a higher risk.

  • If family has one child with ASD, there’s 10%-20% or 33% chance of having a 2^nd with ASD

    • Twin studies: If one child is diagnosed with ASD…

      • Identical twins: 60%-70% chance of BOTH having ASD

      • Fraternal twins: 5%-10% chance of BOTH having ASD

• Comorbid with some genetic conditions

genetics

• Over 1,000 genes have been associated with ASD

• 17 deletions and duplications 

  • i.e., Fragile X, 22q11 microdeletion, 16p11.2 deletion

• Still exploratory

• 3-40% of individuals with ASD have an identified genetic cause

etiology of ASD (environment)

• Environment may combine with a genetic predisposition to cause/prevent development of ASD

  • Children born to older parents (both father and mother) are at a higher risk

  • Prenatal toxin exposure – maternal valproate for epilepsy, insecticides, freeway air pollution

  • Maternal fever 3^rd trimester – health monitoring

  • Low birth weight, prematurity – health monitoring

  • Nutrition, prenatal vitamins

vaccines and ASD

• The immunization controversy is associated with the MMR vaccine.

  • There is no epidemiologic data that proves the correlation between the MMR vaccine and the prevalence of ASDs.

• Thimerosal (an ethylmercury-based preservative) also has been thought to cause ASDs.

  • Vaccines are now thimerosal free.

  • There is no strong evidence that suggest the relationship between ASDs and thimerosal exposure.

risk factors of ASD

• Maternal psychiatric conditions but not use of SSRIs during pregnancy

• Mothers with higher weight gain during pregnancy; risk of autism may be even stronger if mothers were also overweight before pregnancy

• Women who had an infection during the second trimester of pregnancy accompanied by a fever

• Neonatal jaundice was associated with ASD at 35-37 weeks

• Breastfeeding

• Diabetes and hypertension

• Preconception opioid prescription

• Birth spacing

• Prenatal alcohol exposure

• Birth complications

prevalence of ASD

• 1 in 31 (3.2%) children aged 8 years diagnosed with ASD (based on 2022 data)

• Males 3-5x more likely to be diagnosed than females

identification of ASD

• There is no medical test to detect autism.

• Symptoms must be present by age 3 years; however, diagnosis can occur years after development of symptoms.

• ASD diagnosis is not thought of as age of onset of symptoms, but as age of recognition of symptoms.

• Screening tools and parent questionnaires are used to aid in diagnosis.

• The younger the child is when diagnosed, the greater the functional outcome, of course this is variable with severity of symptoms.

  • Many children are diagnosed after age 4, but can be diagnosed as early as 18 months.

  • Early signs: avoiding eye contact, little interest in others, limited language, upset with changes.

identification of ASD (communication)

• Eye contact, social gestures such as pointing, reaching up to be lifted

• Not responding to own name

• Difficulty interpreting others’ body language and facial expressions

• Knowing how close to stand

• Theory of the mind limitations with respect to understanding or predicting others’ thoughts and feelings and actions

• Verbal skill development may be delayed or not occur

• Echolalia

identification of ASD (restrictive and repetitive behaviors)

• Abnormal and intense preoccupation with routines or patterns”

• Daily routine disruption

• Obsessions with certain topics or parts of objects

• Stereotyped behaviors – hand flapping, rocking

important considerations of ASD

• Audiology assessment

• Fragile X DNA analysis

• Chromosome microarray analysis

• Increasing use of Exome sequencing genetic testing

• EEG-seizure activity related to regression in language

• Mouthing objects = Pica

race and ethnicty in ASD 

• Minority groups are diagnosed later and less often

• Whites diagnosed more often than Black and Hispanic children, prevalence INC with SES, earlier Dx with INC SES of an area, INC Dx among English-speaking

associated conditions with ASD

• Intellectual Disability

• Epilepsy

• Tic disorders

• Sleep Disorders (70% affected, DEC family QOL): managed with medication, behavioral changes

• Gastrointestinal Symptoms: constipation, esophagitis

• Psychiatric Conditions: anxiety, depression

• Genetic Disorders

• Feeding Challenges: dietary, allergies, oral motor delays, limited diet

• Sensory processing disorder – hypo and hyperreactivity to sensory information, possibly 95% of those with ASD

• Sensory Modulation Disorder

• Sensory-Based Motor Disorder

• FM and GM deficits

• Food selectivity/refusal – brands, gag, behaviors, health

• ADHD

• Anxiety

• Depression occur at higher rates among people diagnosed with ASD compared to those who have not been

course and prognosis

• ID, Language, Motor Skills may predict functional outcomes

• The success of adulthood greatly varies with the severity of the disorder in respects to language acquisition and IQ. ID among 15%-20% up to 68% of those with ASD. Higher IQ often = INC employment and IND living

• Joint attention associated with higher language level - share experiences with others

• Hand-eye coordination and hand preference may be associated with vocational abilities later

• If a disorder-specific intervention program is begun as early as possible, then educational and social success is better achieved.

• DEC life expectancy (36-41 y.o.): deaths from injury (suffocation, asphyxia, drowning; elopement)

• 80% of adults with ASD are unemployed and no longer eligible for school services, including those with above average IQs.

• Trauma of masking, “living an inauthentic, neuro-normative life”

applied behavioral analysis 

• Developed by Dr. Ivor Lovaas

• Method of teaching, reinforcing, and maintaining new skills and desirable behaviors

• Uses discrete trial teaching, prompting, and reinforcement

• Goals include language development, social use of language, increased social approach, promotion of play skills, decrease behaviors that interfere with the desired goals, extinguish problematic, maladaptive behaviors (i.e., self-injurious behaviors [SIBs], aggression) encourage interaction with peers and generalize skills.

• Skills must be generalized to home and classroom.

• In some states, therapeutic staff support (TSS) and behavior specialist consultant (BSC) workers assist with this intervention in all environments

strategies for self injurious behaviors (SIBs)

• Ask caregivers for assistance and strategies

• Request behavior specialist- EI providers to attend sessions

strategies for non cooperative behaviors

• Recognize intrinsic motivators

• Go slow and low

• Child-led experiences

strategies for excessive emotions

• Verbally identify emotions

• Use sensory strategies

• Request support from their caregivers

strategies for stimming

• They are doing this for a reason---- got to figure out WHY!

• Do not hinder unless it is impeding cooperation.

developmental individual difference relationship based model 

• DIR model was developed by Weider and Greenspan.

• Uses adult interaction as its primary tool to teach social communication, attention leading to engagement, problem solving, and appropriate play and interaction.

• Used as an early intervention program

pragmatic language and social skills training

• Research proves that organizing visual cues and associating them with language helps children with ASD associate spoken words with events.

• The Picture Exchange Communication System (PECs)

• American Sign Language

• Use of augmentative and alternative communication is frequently introduced to increase independence with language.

• Pragmatics is often decreased in children who have ASD who are verbal.  This treatment focuses on integration of gestures, expression, proximity, and inflection in language to enhance interpersonal communication.

strategies for communication

• Recognize how the child communicates.

• Ask the caregiver.

• Gestures, proximity of communication

• Sign language

• Body language

• Observe systemic responses

• Flight, fight or freeze moments

sensory integration 

• Not proven through research

• Used to stimulate or calm individuals who demonstrate altered sensory and motor reactivity.

• Assessment is completed through parent/ teacher questionnaires and observation

• The goal is not to eliminate the problem but to teach the child how to handle the sensory situation in an appropriate manner!

• Remember every person is different.

neurodiversity

• refers to differences in individual brain functioning as typical variations (versus defects) of the brain that result in a range of behavioral traits among individuals

• describes the idea that people experience and interact with the world around them in many ways

• there is no “right” way of thinking, learning, and behaving, and differences are not viewed as deficits

• focus on differences rather than deficits

• dont assume that anyone is incapable or unintelligent

• differences in social preferences, way of learning, ways of communication and/or ways of perceiving the environment