Chapter 3: Autism Spectrum Disorder (ASD)

General Population Chance of Having Autism

0.2%

Elements that Must Be Used in a Comprehensive Assessment

1. History about child, parent, and genetics. 2. Medical History of the child like milestones and regression, as well as any issues in sleeping, eating, psychiatric. 3. Physical/Neurological Examination means ruling out fragile X syndrome, tuberous sclerosis, and congenital rubella which can look similar to ASD. Checking for medical illnesses, head circumference, cranial nerves, motor examination, etc. 4. Parent Interviewing and their impression of their child which may give insight. 5. Language Development Tools 6. Tests in Cognitive Development 7.Tests in other developmental areas like sensory, motor, and adaptive skills. 8. Formal/Informal evaluation of child interacting with others. MOST IMPORTANT. Use Autism Diagnostic Observation Schedule (ADOS) to examine eye contact, transitioning between tasks... 9. Audiological Testing to rule out hearing disorders. 10. Other assessments like EEG (for seizures), MRIs, genetic testing, heavy metal contamination tests.

Incident Rates

Accurate incident rates are hard to measure since age of onset is unclear. Estimates range from 2.1 to 8.3 per 10,000 for all children diagnosed with ASD.

Table 3.3 pg 42

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Gastrointestinal (GI) Disorder

A disorder of the digestive tract. Occurs in unusually high rates in children with autism. Issues include G.I. reflux, gastritis, persistent gas, diarrhea, and constipation.

Theories of Autism: Limbic System

A network of structures that regulate emotion, like the amygdala and hippocampus, appear abnormal in brains of individuals with ASD. Things like feelings, desire, and understanding of the meaning in life are linked to the limbic system. In those with ASD there is decreased size of the neuron's that make up structures of the limbic system.

Theory of Mind

A popular hypothesis in autism that these children struggle to understand other person's feelings, thoughts, and intentions ("reading" someone). Without this it is difficult to interpret or predict the actions of others.

Use of Chelation (C & AM)

A way of removing heavy metal toxins from a child's system. Metal poisoning causes similar symptoms to autism. Although research shows no link, some parents choose to do this treatment.

Hyperlexia

Ability to read without understanding of what is being read

Brain Structure and Austism

Abnormalities have been found in the limbic system, brainstem, frontal lobe, and cerebellum.

Catatonia

Abnormality of movement and behavior arising from a disturbed mental state.

ASD Incidence and Prevalence

Affects 1% of the world population. 3.5 million Americans live with the disability. Prevalence has been rising steadily and increased by 119.4% from the year 2000 where 1 in 50 were diagnosed with autism, to the year 2010 where 1 in 68 children were diagnosed. Autism is the fastest growing developmental disability.

Special Mental Functions

Again is variable depending on the type of autism. It is not uncommon though for children with ASD to have difficulty regulating emotions and to have psychiatric disorders. Most common issue is specific phobia (crowds, bridges, loud noises). Attention deficits are highly prevalent. OCD. 10% of cases have symptoms of major depression. Emotional regulation disability can lead to emotional lability, anxiety, temper tantrums, and aggressive behaviors to self/others.

Theories of Autism: Head Circumference

Although born with normal head circumferences, increased brain volume and head circumference are evident in children with autism from 3 to 4 years old.

Theories of Autism: Gluten and Casein

An unproven theory is that children with autism experience abnormal digestion of gluten (protein in wheats) and casein (protein in cow milk). The theory believes that children with autism lack the enzyme that breaks down these substances. Resulting in opioid and morphine like substances accumulating and leading to children socially withdrawing or engaging in repetitive behavior.

Autism Society of America Definition of Autism

Autism is a neurologic disability that likely originates in utero due to errors in genes causing abnormalities in brain structure and function.

Autism by Community and Demographic Characteristics

Autism is more often diagnosed in some cities compared to others. For instance NJ (1 in 45) compared to AL (1 in 175). White children are more likely to be given an autism diagnosis compared to black or Hispanic children.

Food Selectivity

Children with ASD usually have extremely self restricted diet and disruptive behaviors during meal time. It is not uncommon for them to refuse to eat more than 5-10 very specific foods. Examples include eating a specific brand/shape of a food, plate arrangement, foods not touching. Not eating certain food groups and having meltdowns when eating non preferred food. Often refuse to eat fruits/vegetables. Lack of consumption of essential nutrients can have long term health effects, and causes meal time stress within the family.

Theories of Autism: Neural Networking

Behaviors of autism may result from abnormalities in the neuronal networking between multiple areas of the brain, as the brain processes complex information.

Theories of Autism: "Extreme Maleness"

Boys 5 times more likely to be diagnosed. Brain structure differences? Extreme maleness believes the male brain is more for "systemizing" while a female brain is more for empathizing.

Attention Deficit Patterns in ASD

Distractibility, disorganization, intense preoccupation in preferred activities for unusual lengths of time, and lack of boredom in repeating same action.

Autism Spectrum Disorder (ASD)

Characterized by impairment in social interaction and social communication and by the presence of restricted and repetitive behaviors. Issues include difficulty participating in conversation and misreading verbal social cues. Also people with ASD have unusual responses to sensory information (tactile, auditory, visual), are highly sensitive to change in the environment, and are overly dependent on routines. Considered a lifelong disability with no cure. However, early intervention can have a positive and powerful impact on quality-of-life.

Autism and Memory

Children with ASD often show scattered pattern of memory functions. More complexity = greater impairment because they use fewer organizational strategies. Word recall is more difficult than digit recall. Memory areas that stay intact are visual and rote memory.

Diagnosing Autism

Children with autism demonstrate some combo of language, social, and behavioral issues. However, range of severity is vast. The DSM-5 provides specifiers to capture their impact. The first step is seeing if there is a presence or absence of intellectual disability, language disorder, associated medical conditions, and/or catatonia. Secondly the severity level for the two core symptoms is captured on the three point scale from mild to severe. Allowing for an umbrella diagnosis, and more individualized treatment.

Autism and Language Delay

Common in ASD. Some are highly verbal (literal, echolalia, and repetitive speech) and others are nonverbal. Language comprehension and motivation can be affected. Children with ASD who are verbal may have odd intonation like sing song speech or monotone patterns. Lack of understanding what they hear may lead to inability to produce certain words sounds accurately.

Autism and Cognitive Impairments

Common, but not universal in the autism population. ASD individuals usually have scattered skills. Generalization, symbolic play, theory of mind, imitation and creativity are all areas of struggle. However, they tend to be above average in puzzles, calculations, and rote verbal memory. They have better visual spatial skills than auditory verbal skills on IQ tests (Rapin). Some read at a young age with minimal teaching. but experience hyperlexia. Executive functioning (planning, mnemonics, cognitive flexibility) are often impacted.

Jean Ayres

Completed pioneering research on sensory processing disorders that make it a large area of interest in OT today. Coined the term "sensory integration" to explain learning differences in children who struggled with interpreting info from their body/the environment.

Asperger's Disorder

DSM-IV characterized this form of autism isashaving social and behavioral challenges without presentation of cognitive deficits. This led to a better prognosis at being able to function independently in employment and self-sufficient living.

Key Indicators of Autism

Delay or disorder in social behaviors like social smiling or response to name. Difficulty or complete absence of verbal/nonverbal communication (pointing, showing). Atypical play and early preoccupations with specific parts of a toy.

Course and Prognosis of ASD

Depends on the individuals case. Although most can live functional lives, they never seem to completely rid the characteristics of their diagnosis. Issues in intelligence, language, and motor disability can affect prognosis.

Early Diagnosis

Diagnoses are coming at an age earlier than ever before. This is optimal so therapy can be introduced to reduce symptoms and promote learning. Support from an early time.

ASD Core Symptoms: Social Interaction Issues

Difficulty in social interaction: Limited use of eye contact, facial expressions, and social gestures like shrugging, pointing, lifting arms up to be lifted). Issues interpreting body language or facial expressions. Children with ASD often do not seek out others to share enjoyment, do not share interest in the same objects objects as peers, and don't look for approval or reassurance from parents. They may have little interest in peers or may not know how to express themselves. Kids with ASD often prefer playing alone, limited or repetitive play routines, and limited/absent pretend play skills.

Sexual Behavior and Autism

Difficulty interacting makes inappropriate sexual behavior a concern. Discouraging inappropriate behaviors is difficult so most common things are public masturbation or public touching of one's own private parts.

Autism and Perceptual Functioning

Due to sensory stimuli issues individuals with ASD often process and react abnormally. 30-100% demonstrate deviant sensory perceptual activities.

Theories of Autism: Cerebellum

Dysfunction of the cerebellum might play a role, since it sits over the brainstem it might affect sensory discrimination, attention, emotions, mental imagery, problem-solving, and language processing; speed/consistency/appropriateness of mental and cognitive processes; visual/spatial orientation. Also, Purkinje cells (neurons in the cerebellum) form a layer near the surface and convey signals away from the cerebellum.Those with autism have a decreased amount of Purkinje cell numbers.

ASD Impact on Occupational Performance

Each case is different and depends on where/ how severe the disability occurs. ADLs like dressing/eating can be difficult in those with sensory disorders/postural issues. IADLs like driving/shopping can be a problem in those with emotional regulation issues and focusing problems. Play and leisure can be limited due to need for repetitive behavior. Education can be affected. Employment is also affected. ASD is pervasive and can impact every area of occupational performance.

Motor Skills

Early success in hand eye coordination may predict vocational abilities later in life. Fine motor skills also predict later leisure pursuits. Children with definite hand preference perform significantly better on motor, language, and cognitive tasks.

Environmental Factors

External influences that may cause damage to people's systems if they are overexposed or exposed during a period of critical development.

Assessing the Child for Autism

First comes concern about abnormal behavior from the parent. The child is screened by an early car provider/professional. Important to get someone with experience as no two types of autism are the same. Usually an autism evaluation team is used which includes a pediatrician, psychologist, OT, and SLP.

Frontal Lobe

Function is a voluntary control of the body's movements. Specific regions of the lobe are also responsible for social behavior, spontaneous production of language, initiation of motor activity, processing sensory stimuli, and planning reactions as a result of the input, abstract thinking, problem-solving, and judgment.

Complementary and Alternative Medicine (C & AM)

Gained popularity in the past decade. Defined as a broad domain of healing resources that are not intrinsic to politically dominant health systems and are supplemental to educational services. They believe these methods can target underlying medical conditions, like GI and sleep disorders. Their aim is to aid not cure. Used in 30-50% of children in the US, although 9% is harmful, and 11% are using multiple methods. Studies are being done to test the effectiveness but thus far these ideas are unproven and remain controversial.

Emotional Lability

Going from crying to laughing for no apparent reason.

Level 2: Severe to Moderate ASD

Has some use of language but verbal/nonverbal communication is limited. Difficulty engaging with others, considered odd. When attempting conversation sticks to their interest (trains, numbers, etc) and can't shift to mutual interest topics. Inflexible and noticeably insists on sameness.

Theories of Autism: Males

Higher number of males are diagnosed with autism. 3 to 4 males diagnosed for every 1 female.

Theories of Autism: Twins

If one identical (mono) twin is diagnosed with autism, the other will be diagnosed somewhere on the spectrum of 90% to 95% of cases. In fraternal (di) twins If one receives the diagnosis only 10% chance of the other twin receiving that diagnosis. This may imply that shared genetic codes increase likelihood of autism occurrence.

Theories of Autism: Frontal Lobe

Imaging studies indicate reduced activation of the frontal lobe in people with ASD. In some cases areas of the frontal lobe appear larger in children with ASD., How these abnormalities affect children with ASD remains unclear, but many symptoms of autism appear related to problems in frontal lobe functioning.

ASD Diagnostic Characteristics

Impairment in social communication and social interaction that occurs over several contexts. Restricted, repetitive behavior, interests, and/or activities. Children with ASD are typically deviant and delayed in typical patterns of development.

Sensory Based Motor Disorders

Include dyspraxia, difficulty with motor planning (praxis), and postural disorders or poor postural strength/stability.

ASD Core Symptoms: Restrictive and Repetitive Behaviors

Individuals with autism often exhibit an abnormal or intense preoccupation with routines and patterns. Obsessions with specific topics are common (letters, numbers, elevators). Additional common characteristics include rigidity in daily routines, abnormal stereotyped behaviors like repetitive hand flapping or body rocking, and unusual, nonfunctional preoccupation with parts of an object (wheels on a toy car).

Abnormalities in Brain Structure/Function

It is possible that children with autism start life with brains that are physically different from those of typical developing children. It is also possible that the way in which life life experiences are mapped onto the brain is altered as a result of these differences. Studies indicate subtle differences in several areas of the brain,Meaning researchers are unsure which area, or combination, results in the disorder.

Inappropriate Behaviors

It's important to monitor children with autism closely, especially those who are nonverbal because acting out with inappropriate behaviors may be their only form of expressing discomfort. If a child shows sudden aggressive, severe, or unusual behaviors, or awakens frequently from sleep a medical diagnosis may be necessary.

Theories of Autism: Combination Factors

It's possible that interaction of genes and environmental factors cause autism. However in order for characteristics to appear, an individual would need to be exposed to a thus far unknown environmental factor.

Language in ASD

Language level is a strong predictor of functioning over the course of the lifespan. If they are able to combine words before the age of 5 this is a good prognosis. It's important to assess that the child can spontaneously create sentences not just repeat (echolalia). Joint attention is also a big predictor of language outcomes.

Sensory Modulation Disorder

Listed under restricted/repetitive behaviors are hypo/hyperactivity to sensory info and/or unusual preoccupation with sensory stimuli in the environment. Many sensory issues even go beyond this. Today sensory processing issues in ASD is found in around 95% of cases. It is divided into subtypes based on difficulty modulating sensory info in order to stay calm.

Use of Antifungal Treatment (C & AM)

Many believe yeast (fungus) overgrowth can cause medical disorders like autism, so use of probiotics and low sugar diets are used as treatment.

Theories of Autism: Immune System Disorders

Many debate that children with autism have increased vulnerability to immune system disorders. However there is a current lack of research to prove/disprove this factor.

Global Impairment

Means that autism does not reflect damage to one specific area of the brain. Since it impacts multiple areas, it affects different types of development.

Rote Memory

Memory of previously heard chunks of language rather than spontaneous generation of language.

Is Autism an Epidemic?

Most likely not, the increase in prevalence most likely occurs from better identification and availability of services, as well as changes in the diagnostic criteria.

Pharmacological Therapies

Most people do not believe in using medications due to harmful side effects and since the disorder is permanent, probably genetic, and neurological. However, drugs like risperidone (atypical antipsychotic agent), show promising results in reducing tantrums, irritability, aggression, and self injurious/repetitive behaviors.

Etiology of ASD

No one etiologic factor causes ASD, although researchers believe things like genetics play a heavy role.

Medical/Surgical Treatment

None present. The strongest treatment is early intervention in between the ages of 0-3.

Ambiguous Hand Preference

Occurs when child switches hand to perform the same activity.

Level 3: Very Severe ASD

Often doesn't have language use, and if so it is atypical. Does not seek engagement unless it is to meet needs. Often uses unusual techniques to communicate. Ignores or does not respond to direct social engagement. Extreme inflexibility, to the point where they may have injurious behavior when changes occur.

SOR

Over or Hyperresponsitivity. Sometimes called "sensory defensiveness". Issues with bathing, grooming, crowds, and unexpected noises. Causes anxiety and decreased activity away from home.

DSM 5 Definition of ASD

Provides one universal definition of ASD. With a list of specifiers for specific impairment.

Theories of Autism: Relatives

Relatives of children with ASD more commonly display traits of autism (anxiety, aloofness) than relatives of other children. Presence of these traits in family members may be genetically linked to manifestation of autism.

Gluten Free, Casein Free Diet (C & AM)

Research is inconclusive but many beliefs this helps.

United Kingdom Medical Research Council

Reviewed the following environmental risk factors as possible causes of autism: prenatal or postnatal exposure to viruses, infections, drug/alcohol, endocrine factors, and carbon monoxide. However these factors are thus far not linked to ASD.

Theories of Autism: Genes

Sauce far no single gene has been found to cause ASD; therefore research is focused on finding a combination of genes that maybe responsible.

Use of Secretin (C & AM)

Secretin is a hormone that promotes secretion by pancreas and liver. Extra secretin through injections became popular, but little evidence to back it.

SC or SS

Sensory Craving (Seeking), insatiable craving that interferes with functioning. Issues include touching everything, putting nonfood items in the mouth, and always moving. Inability to focus leads to struggling in academic settings.

Fine and Gross Motor Impairment

Sensory issues can relate to the ability to use sensation to plan, guide, and execute movement. These impairment include problems in skilled movements, hand eye coordination, speed, praxis and imitation, posture, and balance. Particularly debilitating are deficits in motor imitation skills even though perceptual and motor capacities are intact. Children with this issue often perform poorly on tasks that require executing movement. Also (40%) display ambiguous hand preference long past age where dominant hand preference develops.

Co-Occuring Conditions in ASD

Sensory processing disorder, find and gross motor deficits, food selectivity, sleep disturbances, and G.I. issues can create additional stressors affecting life quality.

Theories of Autism: Siblings

Siblings of children with autism, are at a higher risk for having autism. For parents, the probability of having a second child with autism is 3% to 7% if the first child is male and has autism. If the first child is female with autism, the likelihood of a second child with autism increases to 7% to 14%. Higher rates of speech and language disorders also are found among these families, suggesting that the siblings receive some, but not all, of genes responsible for autism.

Use of Antibiotic Treatments (C & AM)

Some believe use of antibiotic treatment can alter the course of autism symptoms.

Finding Out a Child has ASD

Some children have problems from birth, such as appearing aloof and making less eye contact. In other cases characteristics of autism emerge between 12 to 36 months of age, when language skills are supposed to emerge and don't in these children. Not uncommon for children at this age to lose language skills.

Intellectual Disability in ASD

Some children with ASD have decreased mental capacity limiting ability to plan, problem solve, think abstractly, and/or comprehend complex ideas. IQ is measured through assessments and scores below 75 indicate impairment. Prevalence is between 15-20%, some estimates ranging as high as 68%. IQ is the most important indicator of adaptive functioning in later life.

Medical Conditions

Some medicines are necessary for co-occuring issues like seizures or GI disorders.

Theories of Autism: Measles Mumps Rubella (MMR) Vaccinations

Some researchers speculate that the mercury in this vaccination is responsible for causing changes in a persons system that lead to symptoms of autism. However further investigation shows no valid association between the MMR vaccine and autism. Though exposure to Mercury can look similar to autism, children with autism have not consistently evidenced elevated levels of mercury. In contrast children with behavioral and developmental difficulties were discovered to have higher levels of lead in their systems (also not associated with autism).

Echolalia

Speech where a child echoes back what he/she has heard. Although common in young children, children with autism retain this characteristic and use it in abnormal ways. It results from poor auditory processing while auditory memory remains intact. It can occur immediately after hearing someone speak or can be delayed. Although it appears unusual, kids with autism frequently use it in ways they find meaningful (repeating favorite lines).

Joint Attention

The ability to use use eye contact and gestures in order to share experiences with others.

Dr. Leo Kanner

The first person to describe autism in 1943, he believed autism was caused by cold and unresponsive parents. (FALSE)

Controversy Over New DSM-5 Categorization

The new way of diagnosing autism removed the original 5 diagnostic categories: Asperger's, pervasive developmental disability, childhood disintegrative disorder, Rett's syndrome, and autism disorder. Those against it believe that diagnosis may be more restricted and people being diagnosed with autism may not fit the new criteria and may not have access to services and support previously provided. Whether or not the new diagnosis is successful can only be told through time.

ASD Core Symptoms

There are two core symptoms: difficulty in social interaction (which includes language issues) and restrictive and repetitive behavior.

ASD Core Symptoms: Langauge Impairments

This includes the delays in language development and abnormalities in language use. Children with autism show delays in learning how to speak, with some children unable to use words until their school age years. In severe cases spoken language may not be acquired at all. The child's ability to respond to voices or comprehend verbal language (auditory processing) can also be impacted. It's not uncommon to hear parents say that their child does not respond when spoken to or called by name. Social impairments play a role here because these children may not be motivated to communicate, are typically challenged to understands social cues such as facial expressions or intonation to interpret meaning, and have difficulty maintaining the give-and-take of conversations. Echolalia, pronoun reversal and use of out of context words may also be present.

SUR

Under or Hyporesponistivity. Taking longer to respond or not noticing stimuli that others notice. Issues responding to injuries, unaware of the environment, doesn't notice food on face/clothing. This is the most common sensory motor disorder in ASD.

Sleep Disturbance

Up to 70% of those with ASD have some type of sleep disturbance. They may resist sleep or take a long time to fall asleep. They may awaken a lot during the nights, or wake up very early. The reason why is unknown but many believe it may due abnormalities in the brainstem and in melatonin levels. Poor sleeping leads to disruptive day time behavior. This issue often can stress the entire family.

Level 1: Mild to Moderate on ASD

Use of sentence level language but has difficulty using it functionally. Less interest in social engagement and described as odd/atypical. Attempts to make friends but misses social cues. Most comfy in a well worn routine.

Supplements (C & AM)

Use of vitamins and minerals to assist children with GI issues. Frequently used supplements include vitamin C, cod liver oil (Vitamin A & D), and Vitamin B6 combined with magnesium.

Autism and Visual Perception

Usually an area of strength in individuals with ASD. Can be used to help with their stability. They have issues seeing images as a whole. For example, if a child with ASD is presented with an image of a house made of many geometric features they may not see the house only the various shapes.v

Urinary Tract in Autism

Usually typical in structure and function. However, issues in sensory/cognitive areas can make toilet training difficult leading to later ages of achievement.

Theories of Autism: The Brainstem

Within the brainstem, neuron's in the inferior olives of individuals with autism show deviation by age. In young children cells are larger than normal but typical an appearance. In adulthoodThe cells are unusually small and pale. Inferior olives are connected to Purkinje cells by climbing fibers made at 28 to 30 weeks of gestation.If Purkinje cells die, then the inferior olive will also deplete. However, Purkinje cells are reduced in number in children with autism, but cells of inferior olive are normal in quantity. This may imply that damage to Purkinje cells occurs in utero before the bond was established (before 28 to 30 weeks of gestation).