RESTRIC
+ REPEAT
THE PHENOMENON OF AUTISM compiled and designed by Nicole Newbrey
RESTRICT+ REPEAT
THE PHENOMENON OF AUTISM
RESTRIC
+ REPEAT
THE PHENOMENON OF AUTISM
THE PHENOMENON OF AUTISM: RESTRICT + REPEAT Book designed and compiled by Nicole Newbrey Copyright 2010 Published by Nicole Newbrey Course number GR 601 Taught online by Carolina de Bartolo in Spring 2010 at the Academy of Art University San Francisco, CA Photography and Illustrations by Nicole Newbrey Printed in Oak Park, IL Bound at The Key Book Binding Oakland, CA All Rights Reserved
DEDICATION For my husband. I love you for all of your understanding and patience when I spend hours upon hours on the computer finishing up projects. You are a trooper and I am lucky to have you. And I promise, it will all be worth it in the end.
CONTENTS
1 WHAT IS AUTISM?
01
1.1 History
02
1.2 Epidemiology
06
1.3 Classification
10
2 CHARACTERISTICS
15
2.1 Social Development
16
2.2 Communication
18
2.3 Other Symptoms
20
3 CAUSES
25
3.1 Mechanism
27
3.1.1 Pathophysiology
28
3.1.2 Neuropsychology
32
4 SCREENING + DIAGNOSIS
35
5 MANAGEMENT + PROGNOSIS
47
6 REAL LIFE
63
7 CONCLUSION
73
PREFACE Autism is a disorder that is becoming more prevalent in todays environment, but also has the most confusion as to what it actually is due to lack of medical research. I hope with time and with the advent of this book maybe the general public will become more aware of Autism and how it’s affected millions of families worldwide. The overall idea behind this book was to compile together important information into one, helpful guide for the parents of children with Autism to go through and try to grasp what their child is dealing with. Also to hopefully help guide them onto the best treatment options and counseling they may need as a family. Autism is not just an individual disorder, it affects the entire family. I hope this book helps because Autism will not go away on it’s own, people really need to take a stand and help with the research of this disorder, because I do believe there will be a cure one day.
FOREWORD The Autism/Asperger Spectrum is very broad, ranging from a brilliant scientist to a person who remains nonverbal with a severe disability. There are many characteristics that are the same along the entire continuum. Two of the most important are problems with social situations and sensory sensitivities. Sensory problems are often overlooked. When I was a child, a loud school bell was like a dentist drill hitting a nerve. It hurt my ears. I would like to give a word of advice to all people who work with children or adults on the spectrum: develop talents that can be turned into job skills or hobbies. Social interaction will develop through an interest that can be shared with other people. Special education teachers often put too much emphasis on deficits and not enough on building on areas of strength. As a visual thinker I was good at drawing. And my visual and drawing skills became the basis for my career as a designer of livestock facilities. Skills tend to be uneven; an individual may be good at one thing and not another. I was good at drawing and building things, but algebra was incomprehensible because I could not visualize it. The minds of people on the spectrum are usually specialized. I have observed that there are three basic types of specialized minds: the visual thinking; the music and mathematical mind; and the nonvisual numbers and language translator mind. Teachers and parents should work on utilizing these strengths. People on the spectrum who have a fulfilling life now often had four important assets earlier in their life: early education and treatment; medication or other treatment for severe anxiety, depression, or sensory sensitivities; development of their talents; and mentors and teachers to help them. Temple Grandin, Ph.D. Author, Thinking in Pictures
1
WHAT IS AUTISM? Autism is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior. These signs all begin before a child is three years old. Autism affects information processing in the brain by altering how nerve cells and their synapses connect and organize; how this occurs is not well understood. The two other autism spectrum disorders (ASD) are Asperger syndrome, which lacks delays in cognitive development and language, and PDD-NOS, diagnosed when full criteria for the other two disorders are not met. Autism has a strong genetic basis, although the genetics of autism are complex and it is unclear whether ASD is explained more by rare mutations, or by rare combinations of common genetic variants. In rare cases, autism is strongly associated with agents that cause birth defects. Controversies surround other proposed environmental causes, such as heavy metals, pesticides or childhood vaccines; the vaccine hypotheses are biologically implausible and lacking convincing scientific evidence. The prevalence of autism is about 1–2 per 1,000 people; the prevalence of ASD is about 6 per 1,000, with about four times as many males as females. The number of people diagnosed with autism has increased dramatically since the 1980s, partly due to changes in diagnostic practice; the question of whether actual prevalence has increased is unresolved. Parents usually notice signs in the first two years of their child’s life. The signs usually develop gradually, but some autistic children first develop more normally and then regress. Although early behavioral or cognitive intervention can help autistic children gain self-care, social, and communication skills, there is no known cure. Not many children with autism live independently after reaching adulthood, though some become successful. An autistic culture has developed, with some individuals seeking a cure and others believing autism should be tolerated as a difference and not treated as a disorder.
HISTORY The New Latin word autismus (English translation autism) was coined by the Swiss psychiatrist Eugen Bleuler in 1910 as he was defining symptoms of schizophrenia. He derived it from the Greek word, and used it to mean morbid self-admiration, referring to “autistic withdrawal of the patient to his fantasies, against which any influence from outside becomes an intolerable disturbance.” A few examples of autistic symptoms and treatments were described long before autism was named. The Table Talk of Martin Luther contains the story of a 12-yearold boy who may have been severely autistic. According to Luther’s notetaker Mathesius, Luther thought the boy was a soulless mass of flesh possessed by the devil, and suggested that he be suffocated. The earliest well-documented case of autism is that of Hugh Blair of Borgue, as detailed in a 1747 court case in which his brother successfully petitioned to annul Blair’s marriage to gain Blair’s inheritance. The Wild Boy of Aveyron, a feral child caught in 1798, showed several signs of autism; the medical student Jean Itard treated him with a behavioral program designed to help him form social attachments and to induce speech via imitation.
02 THE PHENOMENON OF AUTISM
Leo Kanner introduced the label early infantile autism in 1943. The word autism first took its modern sense in 1938 when Hans Asperger of the Vienna University Hospital adopted Bleuler’s terminology autistic psychopaths in a lecture in German about child psychology. Asperger was investigating an ASD now known as Asperger syndrome, though for various reasons it was not widely recognized as a separate diagnosis until 1981. Leo Kanner of the Johns Hopkins Hospital first used autism in its modern sense in English when he introduced the label early infantile autism in a 1943 report of 11 children with striking behavioral similarities. Almost all the characteristics described in Kanner’s first paper on the subject, notably “autistic aloneness” and “insistence on sameness”, are still regarded as typical of the autistic spectrum of disorders. It is not known whether Kanner derived the term independently of Asperger. Kanner’s reuse of autism led to decades of confused terminology like infantile schizophrenia, and child psychiatry’s focus on maternal deprivation led to misconceptions of autism as an infant’s response to “refrigerator mothers”. Starting in the late 1960s autism was established as a separate syndrome by demonstrating that it is lifelong, distinguishing it from mental retardation and schizophrenia and from other developmental disorders, and demonstrating the benefits of involving parents in active programs of therapy. As late as the mid-1970s there was little evidence of a genetic role in autism; now it is thought to be one of the most heritable of all psychiatric conditions. Although the rise of parent organizations and the destigmatization of childhood ASD have deeply affected how we view ASD, parents continue to feel social stigma in situations where their autistic children’s behaviors are perceived negatively by others, and many primary care physicians and medical specialists still express some beliefs consistent with outdated autism research. The Internet has helped autistic individuals bypass nonverbal cues and emotional sharing that they find so hard to deal with, and has given them a way to form online communities and work remotely. Sociological and cultural aspects of autism have developed: some in the community seek a cure, while others believe that autism is simply another way of being.
CHAPTER 1: WHAT IS AUTISM? 03
04 THE PHENOMENON OF AUTISM
PARTS OF THE BRAIN AFFECTED BY AUTISM Cerebral Cortex A thin layer of gray matter on the surface of the cerebral hemispheres. Responsible for higher mental functions, general movement, perception and behavorial reactions. Basal Ganglia Gray masses deep within the cerebral hemisphere. Helps regulate automatic movement. Corpus Callosum This consists of closely packed bundles of fibers that connect the right and left hemispheres and allows them to communicate with one another. Amygdala Responsible for all emotional responses including agressive behavior. Hippocampus Makes it possible to remember new information and recent events. Cerebellum Located at the back of the brain, it fine tunes motor activity, regulates balance, body movements, coordination and the muscles used for speaking. Brain Stem Located in the front of the cerebellum and serves as a relay station, passing messages between varying parts of the body and the cerebral cortex. Controls primitive functions of the body essential to survival including breathing and heart rate.
CHAPTER 1: WHAT IS AUTISM? 05
EPIDEMIOLOGY Most recent reviews tend to estimate a prevalence of 1-2 per 1,000 for autism and close to 6 per 1,000 for ASD; because of inadequate data, these numbers may underestimate ASD’s true prevalence. PDD-NOS’s prevalence has been estimated at 3.7 per 1,000, Asperger syndrome at roughly 0.6 per 1,000, and childhood disintegrative disorder at 0.02 per 1,000. The number of reported cases of autism increased dramatically in the 1990s and early 2000s. This increase is largely attributable to changes in diagnostic practices, referral patterns, availability of services, age at diagnosis, and public awareness, though unidentified environmental risk factors cannot be ruled out. The available evidence does not rule out the possibility that autism’s true prevalence has increased; a real increase would suggest directing more attention and funding toward changing environmental factors instead of continuing to focus on genetics. Boys are at higher risk for ASD than girls. The sex ratio averages 4.3:1 and is greatly modified by cognitive impairment: it may be close to 2:1 with mental retardation and more than 5.5:1 without. Although the evidence does not implicate any single pregnancy-related risk factor as a cause of autism, the risk of autism is associated with advanced age in either parent, and with diabetes, bleeding, and use of psychiatric drugs in the mother during pregnancy. The risk is greater with older fathers than with older mothers; two potential explanations are the known increase in mutation burden in older sperm, and the hypothesis that men marry later if they carry genetic liability and show some signs of autism. Most professionals believe that race, ethnicity, and socioeconomic background do not affect the occurrence of autism.
06 THE PHENOMENON OF AUTISM
AUTISM ON THE RISE 1 in 110
1 in 150
1 in 166
1 in 250
1 in 500
1 in 2500 1 in 5000
1975
1985
1995
2001
2004
2007
2009
CHAPTER 1: WHAT IS AUTISM? 07
Several other conditions are common in children with autism. They include: Genetic disorders. About 10-15% of autism cases have an identifiable Mendelian (single-gene) condition, chromosome abnormality, or other genetic syndrome, and ASD is associated with several genetic disorders. Mental retardation. The fraction of autistic individuals who also meet criteria for mental retardation has been reported as anywhere from 25% to 70%, a wide variation illustrating the difficulty of assessing autistic intelligence. For ASD other than autism, the association with mental retardation is much weaker. Anxiety disorders are common among children with ASD; there are no firm data, but studies have reported prevalences ranging from 11% to 84%. Many anxiety disorders have symptoms that are better explained by ASD itself, or are hard to distinguish from ASD’s symptoms. Epilepsy, with variations in risk of epilepsy due to age, cognitive level, and type of language disorder. Several metabolic defects, such as phenylketonuria. Minor physical anomalies are significantly increased in the autistic population. Preempted diagnoses. Although the DSM-IV rules out concurrent diagnosis of many other conditions along with autism, the full criteria for ADHD, Tourette syndrome, and other of these conditions are often present and these comorbid diagnoses are increasingly accepted. Sleep problems affect about two-thirds of individuals with ASD at some point in childhood. Most commonly include symptoms of insomnia such as difficulty in falling asleep, frequent nocturnal awakenings, and early morning awakenings. Sleep problems are associated with difficult behaviors and family stress, and are often a focus of clinical attention over and above the primary ASD diagnosis.
08 THE PHENOMENON OF AUTISM
CHAPTER 1: WHAT IS AUTISM? 09
CLASSIFICATION Autism is one of the five pervasive developmental disorders (PDD), which are characterized by widespread abnormalities of social interactions and communication, and severely restricted interests and highly repetitive behavior. These symptoms do not imply sickness, fragility, or emotional disturbance. Of the five PDD forms, Asperger syndrome is closest to autism in signs and likely causes; Rett syndrome and childhood disintegrative disorder share several signs with autism, but may have unrelated causes; PDD not otherwise specified (PDDNOS; also called atypical autism) is diagnosed when the criteria are not met for a more specific disorder. Unlike with autism, people with Asperger syndrome have no substantial delay in language development. The terminology of autism can be bewildering, with autism, Asperger syndrome and PDD-NOS often called the autism spectrum disorders (ASD) or sometimes the autistic disorders, whereas autism itself is often called autistic disorder, childhood autism, or infantile autism. In this article, autism refers to the classic autistic disorder; in clinical practice, though, autism, ASD, and PDD are often used interchangeably. ASD, in turn, is a subset of the broader autism phenotype, which describes individuals who may not have ASD but do have autistic-like traits, such as avoiding eye contact. The manifestations of autism cover a wide spectrum, ranging from individuals with severe impairments—who may be silent, mentally disabled, and locked into hand flapping and rocking—to high functioning individuals who may have active but distinctly odd social approaches, narrowly focused interests, and verbose, pedantic communication. Because the behavior spectrum is continuous, boundaries between diagnostic categories are necessarily somewhat arbitrary. Sometimes the syndrome is divided into low-, medium- or high-functioning autism (LFA, MFA, and HFA), based on IQ thresholds, or on how much support the individual requires in daily life; these subdivisions are not standardized and are controversial. Autism can also be divided into syndromal and non-syndromal autism; the syndromal autism is associated with severe or profound mental retardation or a congenital syndrome with physical symptoms, such as tuberous sclerosis. Although individuals with Asperger syndrome tend to perform better cognitively than those with autism, the extent of the overlap between Asperger syndrome, HFA, and nonsyndromal autism is unclear.
10 THE PHENOMENON OF AUTISM
Some studies have reported diagnoses of autism in children due to a loss of language or social skills, as opposed to a failure to make progress, typically from 15 to 30 months of age. The validity of this distinction remains controversial; it is possible that regressive autism is a specific subtype, or that there is a continuum of behaviors between autism with and without regression. Research into causes has been hampered by the inability to identify biologically meaningful subpopulations and by the traditional boundaries between the disciplines of psychiatry, psychology, neurology and pediatrics. Newer technologies such as fMRI and diffusion tensor imaging can help identify biologically relevant phenotypes (observable traits) that can be viewed on brain scans, to help further neurogenetic studies of autism; one example is lowered activity in the fusiform face area of the brain, which is associated with impaired perception of people versus objects. It has been proposed to classify autism using genetics as well as behavior.
CHAPTER 1: WHAT IS AUTISM? 11
RETT S YN
E OM DR
PERVA S I V ED EV EL 12 THE PHENOMENON OF AUTISM
ATIVE DIS EGR OR NT DE SI DI
SORDER NOT OT L DI HE TA RW EN IS PM E O
ROME YND RS GE R PE AS (PDD-NOS) ED IF I EC P S CHILD HO OD
) DD (C
DE VE
AUT ISM
R
PER VA SI VE
PDD) ERS ( ORD S I LD TA EN PM LO
CLASSIFICATIONS OF PERVASIVE DEVELOPMENTAL DISORDERS (PDD) Autism a developmental brain disorder characterized by impaired social interaction and communication skills, and limited range of activities and interests, is the most characteristic and best studied PDD. Asperger Syndrome people with Aperger’s show significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development.
Also commonly referred to as Autism Spectrum Disorders (ASD)
Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS) is a diagnosis for people who are well-described by the "PDD" label, but cannot be categorized by any other disorder. It is usually milder than autism, and has similar symptoms to autism, with some symptoms present, and others absent.
Childhood Disintegrative Disorder (CDD) also known as Heller's syndrome and disintegrative psychosis, is a rare condition characterized by late onset (>3 years of age) of developmental delays in language, social function, and motor skills. Rett Syndrome a neurodevelopmental disorder that is classified as an autism spectrum disorder by the DSM-IV. The clinical features include a deceleration of the rate of head growth (including microcephaly in some) and small hands and feet. Repetitive hand movements such as mouthing or wringing are also noted.
CHAPTER 1: WHAT IS AUTISM? 13
2
CHARACTERISTICS Autism is a highly variable neurodevelopmental disorder that first appears during infancy or childhood, and generally follows a steady course without remission. Overt symptoms gradually begin after the age of six months, become established by age two or three years, and tend to continue through adulthood, although often in more muted form. It is distinguished not by a single symptom, but by a characteristic triad of symptoms: impairments in social interaction; impairments in communication; and restricted interests and repetitive behavior. Other aspects, such as atypical eating, are also common but are not essential for diagnosis. Autism’s individual symptoms occur in the general population and appear not to associate highly, without a sharp line separating pathologically severe from common traits. All types of autism have autism symptoms in various degrees. However, not every child with autism will show every characteristic for autism. Some children will have more signs of autism than other children. Every autistic child is different from every other autistic child. In order to obtain the diagnosis of autism, the child would need to be impaired significantly more than expected for their age. In addition, these characteristics for autism would need to be present before three years of age. Often, early signs of autism are present long before a formal diagnosis of autism is obtained. Autism in adults manifests differently than autism in children, but the basic deficits in communication abilities, social skills, and behavior are still present.
SOCIAL DEVELOPMENT Social deficits distinguish autism and the related autism spectrum disorders from other developmental disorders. People with autism have social impairments and often lack the intuition about others that many people take for granted. Noted autistic Temple Grandin described her inability to understand the social communication of neurotypicals, or people with normal neural development, as leaving her feeling “like an anthropologist on Mars�. Unusual social development becomes apparent early in childhood. Autistic infants show less attention to social stimuli, smile and look at others less often, and respond less to their own name. Autistic toddlers differ more strikingly from social norms; for example, they have less eye contact and turn taking, and are more likely to communicate by manipulating another person’s hand. Three- to five-yearold autistic children are less likely to exhibit social understanding, approach others spontaneously, imitate and respond to emotions, communicate nonverbally, and take turns with others. However, they do form attachments to their primary caregivers. Most autistic children display moderately less attachment security than non-autistic children, although this difference disappears in children with higher mental development or less severe ASD. Older children and adults with ASD perform worse on tests of face and emotion recognition. Contrary to common beliefs, autistic children do not prefer being alone. Making and maintaining friendships often proves to be difficult for those with autism. For them, the quality of friendships, not the number of friends, predicts how lonely they feel. Functional friendships, such as those resulting in invitations to parties, may affect the quality of life more deeply. There are many anecdotal reports, but few systematic studies, of aggression and violence in individuals with ASD. The limited data suggest that, in children with mental retardation, autism is associated with aggression, destruction of property, and tantrums. A 2007 study interviewed parents of 67 children with ASD and reported that about two-thirds of the children had periods of severe tantrums and about one-third had a history of aggression, with tantrums significantly more common than in non-autistic children with language impairments.
16 THE PHENOMENON OF AUTISM
CHAPTER 2: CHARACTERISTICS 17
COMMUNICATION About a third to a half of individuals with autism do not develop enough natural speech to meet their daily communication needs. Differences in communication may be present from the first year of life, and may include delayed onset of babbling, unusual gestures, diminished responsiveness, and vocal patterns that are not synchronized with the caregiver. In the second and third years, autistic children have less frequent and less diverse babbling, consonants, words, and word combinations; their gestures are less often integrated with words. Autistic children are less likely to make requests or share experiences, and are more likely to simply repeat others’ words (echolalia) or reverse pronouns. Joint attention seems to be necessary for functional speech, and deficits in joint attention seem to distinguish infants with ASD: for example, they may look at a pointing hand instead of the pointed-at object, and they consistently fail to point at objects in order to comment on or share an experience. Autistic children may have difficulty with imaginative play and with developing symbols into language. In a pair of studies, high-functioning autistic children aged 8–15 performed equally well as, and adults better than, individually matched controls at basic language tasks involving vocabulary and spelling. Both autistic groups performed worse than controls at complex language tasks such as figurative language, comprehension and inference. As people are often sized up initially from their basic language skills, these studies suggest that people speaking to autistic individuals are more likely to overestimate what their audience comprehends.
18 THE PHENOMENON OF AUTISM
Autistic individuals display many forms of repetitive or restricted behavior, which the Repetitive Behavior Scale-Revised (RBS-R) categorizes as follows. No single repetitive behavior seems to be specific to autism, but only autism appears to have an elevated pattern of occurrence and severity of these behaviors.
Stereotypy is repetitive movement, such as hand flapping, making sounds, uncontrollable laughter, head rolling, or body rocking.
Self-injury includes movements that injure or can injure the person, such as eye poking, skin picking, hand biting, and head banging.
Compulsive behavior is intended and appears to follow rules, such as arranging objects in stacks or lines.
Ritualistic behavior involves an unvarying pattern of daily activities, such as a dressing ritual. This is closely associated with sameness and an independent validation has suggested combining the two factors.
Restricted behavior is limited in focus, interest, or activity, such as preoccupation with a single television program, toy, or game.
Sameness is resistance to change; for example, insisting that the furniture not be moved or refusing to be interrupted.
CHAPTER 2: CHARACTERISTICS 19
OTHER SYMPTOMS Autistic individuals may have symptoms that are independent of the diagnosis, but that can affect the individual or the family. An estimated 0.5% to 10% of individuals with ASD show unusual abilities, ranging from splinter skills such as the memorization of trivia to the extraordinarily rare talents of prodigious autistic savants. Many individuals with ASD show superior skills in perception and attention, relative to the general population. Sensory abnormalities are found in over 90% of those with autism, and are considered core features by some, although there is no good evidence that sensory symptoms differentiate autism from other developmental disorders. Differences are greater for under-responsivity (for example, walking into things) than for over-responsivity (for example, distress from loud noises) or for sensation seeking (for example, rhythmic movements). An estimated 60%–80% of autistic people have motor signs that include poor muscle tone, poor motor planning, and toe walking; ASD is not associated with severe motor disturbances. Unusual eating behavior occurs in about three-quarters of children with ASD, to the extent that it was formerly a diagnostic indicator. Selectivity is the most common problem, although eating rituals and food refusal also occur; this does not appear to result in malnutrition. Although some children with autism also have gastrointestinal (GI) symptoms, there is a lack of published rigorous data to support the theory that autistic children have more or different GI symptoms than usual; studies report conflicting results, and the relationship between GI problems and ASD is unclear. Parents of children with ASD have higher levels of stress. Siblings of children with ASD report greater admiration of and less conflict with the affected sibling than siblings of unaffected children or those with Down syndrome; siblings of individuals with ASD have greater risk of negative well-being and poorer sibling relationships as adults.
20 THE PHENOMENON OF AUTISM
OTHER AFFECTS AUTISM CAN HAVE ON A CHILD
Acid pH Body Chemistry which sets up a welcoming host of illnesses...
Toxins which build up from inability to eliminate leading to...
Viral Attacks which further weaken the immune system which allows...
The Whole Body Attack from the Vicious Cycle of Autism
Infestation by Opportunistic Parasites which deplete nutrients & add...
Attacks by Bacteria to open the door to...
Attacks on Tissues by Fungal Dysbioses which weaken further allowing...
CHAPTER 2: CHARACTERISTICS 21
3
CAUSES It has long been presumed that there is a common cause at the genetic, cognitive, and neural levels for autism’s characteristic triad of symptoms. However, there is increasing suspicion that autism is instead a complex disorder whose core aspects have distinct causes that often co-occur. Autism has a strong genetic basis, although the genetics of autism are complex and it is unclear whether ASD is explained more by rare mutations with major effects, or by rare multigene interactions of common genetic variants. Complexity arises due to interactions among multiple genes, the environment, and epigenetic factors which do not change DNA but are heritable and influence gene expression. Studies of twins suggest that heritability is 0.7 for autism and 0.9 for the broader autism phenotype, and siblings of those with autism are about 25 times more likely to be autistic than the general population. However, most of the mutations that increase autism risk have not been identified. Typically, autism cannot be traced to a Mendelian (single-gene) mutation or to a single chromosome abnormality like fragile X syndrome, and none of the genetic syndromes associated with ASDs has been shown to selectively cause ASD. Numerous candidate genes have been located, with only small effects attributable to any particular gene. The large number of autistic individuals with unaffected family members may result from copy number variations—spontaneous deletions or duplications in genetic material during meiosis. Hence, a substantial fraction of autism cases may be traceable to genetic causes that are highly heritable but not inherited: that is, the mutation that causes the autism is not present in the parental genome.
Several lines of evidence point to synaptic dysfunction as a cause of autism. Some rare mutations may lead to autism by disrupting some synaptic pathways, such as those involved with cell adhesion. Gene replacement studies in mice suggest that autistic symptoms are closely related to later developmental steps that depend on activity in synapses and on activity-dependent changes. All known teratogens (agents that cause birth defects) related to the risk of autism appear to act during the first eight weeks from conception, and though this does not exclude the possibility that autism can be initiated or affected later, it is strong evidence that autism arises very early in development. Although evidence for other environmental causes is anecdotal and has not been confirmed by reliable studies, extensive searches are underway. Environmental factors that have been claimed to contribute to or exacerbate autism, include certain foods, infectious disease, heavy metals, solvents, diesel exhaust, PCBs, phthalates and phenols used in plastic products, pesticides, brominated flame retardants, alcohol, smoking, illicit drugs, vaccines, and prenatal stress. Parents may first become aware of autistic symptoms in their child around the time of a routine vaccination, and this has given rise to theories that vaccines or their preservatives cause autism. Although these theories lack convincing scientific evidence and are biologically implausible, parental concern about autism has led to lower rates of childhood immunizations and higher likelihood of measles outbreaks.
26 THE PHENOMENON OF AUTISM
MECHANISM Autism’s symptoms result from maturation-related changes in various systems of the brain. How autism occurs is not well understood. Its mechanism can be divided into two areas: the pathophysiology of brain structures and processes associated with autism, and the neuropsychological linkages between brain structures and behaviors. The behaviors appear to have multiple pathophysiologies.
CHROMOSOME ABNORMALITIES THAT ARE IMPLICATED IN AUTISM
1: Deletion
2: Duplication
3: Inversion
CHAPTER 3: CAUSES 27
PATHOPHYSIOLOGY Unlike many other brain disorders such as Parkinson’s, autism does not have a clear unifying mechanism at either the molecular, cellular, or systems level; it is not known whether autism is a few disorders caused by mutations converging on a few common molecular pathways, or is (like intellectual disability) a large set of disorders with diverse mechanisms. Autism appears to result from developmental factors that affect many or all functional brain systems, and to disturb the timing of brain development more than the final product. Neuroanatomical studies and the associations with teratogens strongly suggest that autism’s mechanism includes alteration of brain development soon after conception. This anomaly appears to start a cascade of pathological events in the brain that are significantly influenced by environmental factors. Just after birth, the brains of autistic children tend to grow faster than usual, followed by normal or relatively slower growth in childhood. It is not known whether early overgrowth occurs in all autistic children. It seems to be most prominent in brain areas underlying the development of higher cognitive specialization. Hypotheses for the cellular and molecular bases of pathological early overgrowth include the following: An excess of neurons that causes local overconnectivity in key brain regions. Disturbed neuronal migration during early gestation. Unbalanced excitatory–inhibitory networks. Abnormal formation of synapses and dendritic spines, by modulation of the neurexin–neuroligin cell-adhesion system, or by poorly regulated synthesis of synaptic protein. Disrupted synaptic development may also contribute to epilepsy, which may explain why the two conditions are associated. Interactions between the immune system and the nervous system begin early during the embryonic stage of life, and successful neurodevelopment depends on a balanced immune response. It is possible that aberrant immune activity during critical periods of neurodevelopment is part of the mechanism of some forms of ASD. Although some abnormalities in the immune system have been found in specific subgroups of autistic individuals, it is not known whether these abnormalities are relevant to or secondary to autism’s disease processes.
28 THE PHENOMENON OF AUTISM
The relationship of neurochemicals to autism is not well understood; several have been investigated, with the most evidence for the role of serotonin and of genetic differences in its transport. Some data suggest an increase in several growth hormones; other data argue for diminished growth factors. Also, some inborn errors of metabolism are associated with autism but probably account for less than 5% of cases. The mirror neuron system (MNS) theory of autism hypothesizes that distortion in the development of the MNS interferes with imitation and leads to autism’s core features of social impairment and communication difficulties. The MNS operates when an animal performs an action or observes another animal perform the same action. The MNS may contribute to an individual’s understanding of other people by enabling the modeling of their behavior via embodied simulation of their actions, intentions, and emotions. Several studies have tested this hypothesis by demonstrating structural abnormalities in MNS regions of individuals with ASD, delay in the activation in the core circuit for imitation in individuals with Asperger syndrome, and a correlation between reduced MNS activity and severity of the syndrome in children with ASD. However, individuals with autism also have abnormal brain activation in many circuits outside the MNS and the MNS theory does not explain the normal performance of autistic children on imitation tasks that involve a goal or object. ASD-related patterns of low function and aberrant activation in the brain differ depending on whether the brain is doing social or nonsocial tasks. In autism there is evidence for reduced functional connectivity of the default network, a largescale brain network involved in social and emotional processing, with intact connectivity of the task-positive network, used in sustained attention and goal-directed thinking. In people with autism the two networks are not negatively correlated in time, suggesting an imbalance in toggling between the two networks, possibly reflecting a disturbance of self-referential thought. A 2008 brain-imaging study found a specific pattern of signals in the cingulate cortex which differs in individuals with ASD.
CHAPTER 3: CAUSES 29
The underconnectivity theory of autism hypothesizes that autism is marked by underfunctioning high-level neural connections and synchronization, along with an excess of low-level processes. Evidence for this theory has been found in functional neuroimaging studies on autistic individuals and by a brain wave study that suggested that adults with ASD have local overconnectivity in the cortex and weak functional connections between the frontal lobe and the rest of the cortex. Other evidence suggests the underconnectivity is mainly within each hemisphere of the cortex and that autism is a disorder of the association cortex. From studies based on event-related potentials, transient changes to the brain’s electrical activity in response to stimuli, there is considerable evidence for differences in autistic individuals with respect to attention, orientiation to auditory and visual stimuli, novelty detection, language and face processing, and information storage; several studies have found a preference for non-social stimuli. For example, magnetoencephalography studies have found evidence in autistic children of delayed responses in the brain’s processing of auditory signals. However, in terms of the timing, type, and locus of the originating abnormality in autism, the data from neuropathology suggest that other areas remote from the neocortex may be the beginning of the pathophysiological cascade. The universal impairment in social cognition found in neuropsychologic studies of autism suggests involvement of certain brain regions known to mediate social and emotional behavior, namely, regions of the limbic system, such as the amygdala and orbital frontal cortex. Animal research indicates that limbic lesions my cause secondary dysfunction in the neocortex. There is precedence in other diseases for this pathway, for example, progressive supernuclear palsy (PSP). Autopsy results in PSP show defects in the upper brain stem. However, PET scans in vivo show frontal area dysfunction. Frontal area functions are closer to the surface and have an amplified effect on scans. The upper brain stem may not properly activate the frontal area. What is most obvious in in vivo imaging may not necessarily reflect the basic defect.
30 THE PHENOMENON OF AUTISM
MECHANISMS OF AN AUTISTIC BRAIN
Parts of brain an autistic individual used for a movement task
Parts of brain a non autistic individual used for a movement task
CHAPTER 3: CAUSES 31
NEUROPSYCHOLOGY Two major categories of cognitive theories have been proposed about the links between autistic brains and behavior. The first category focuses on deficits in social cognition. The empathizing–systemizing theory postulates that autistic individuals can systemize—that is, they can develop internal rules of operation to handle events inside the brain—but are less effective at empathizing by handling events generated by other agents. An extension, the extreme male brain theory, hypothesizes that autism is an extreme case of the male brain, defined psychometrically as individuals in whom systemizing is better than empathizing; this extension is controversial, as many studies contradict the idea that baby boys and girls respond differently to people and objects.
32 THE PHENOMENON OF AUTISM
These theories are somewhat related to the earlier theory of mind approach, which hypothesizes that autistic behavior arises from an inability to ascribe mental states to oneself and others. The theory of mind hypothesis is supported by autistic children’s atypical responses to the Sally–Anne test for reasoning about others’ motivations, and the mirror neuron system theory of autism described in Pathophysiology maps well to the hypothesis. However, most studies have found no evidence of impairment in autistic individuals’ ability to understand other people’s basic intentions or goals, data suggests that impairments are found in understanding more complex social emotions or others’ viewpoints. The second category focuses on nonsocial or general processing. Executive dysfunction hypothesizes that autistic behavior results in part from deficits in working memory, planning, inhibition, and other forms of executive function. Tests of core executive processes such as eye movement tasks indicate improvement from late childhood to adolescence, but performance never reaches typical adult levels. A strength of the theory is predicting stereotyped behavior and narrow interests; two weaknesses are that executive function is hard to measure and that executive function deficits have not been found in young autistic children. Weak central coherence theory hypothesizes that a limited ability to see the big picture underlies the central disturbance in autism. One strength of this theory is predicting special talents and peaks in performance in autistic people. A related theory—enhanced perceptual functioning—focuses more on the superiority of locally oriented and perceptual operations in autistic individuals. These theories map well from the underconnectivity theory of autism. Neither category is satisfactory on its own; social cognition theories poorly address autism’s rigid and repetitive behaviors, while the nonsocial theories have difficulty explaining social impairment and communication difficulties. A combined theory based on multiple deficits may prove to be more useful.
CHAPTER 3: CAUSES 33
4
SCREENING + DIAGNOSIS About half of parents of children with ASD notice their child’s unusual behaviors by age 18 months, and about four-fifths notice by age 24 months. As postponing treatment may affect long-term outcome, any of the following signs is reason to have a child evaluated by a specialist without delay: No babbling by 12 months. No gesturing (pointing, waving goodbye, etc.) by 12 months. No single words by 16 months. No two-word spontaneous phrases (other than echolalia) by 24 months. Any loss of any language or social skills, at any age. U.S. and Japanese practice is to screen all children for ASD at 18 and 24 months, using autism-specific formal screening tests. In contrast, in the UK, screening targets children whose families or doctors recognize possible signs of autism. It is not known which approach is more effective. Screening tools include the Modified Checklist for Autism in Toddlers (M-CHAT), the Early Screening of Autistic Traits Questionnaire, and the First Year Inventory; initial data on M-CHAT and its predecessor CHAT on children aged 18–30 months suggests that it is best used in a clinical setting and that it has low sensitivity (many false-negatives) but good specificity (few false-positives). It may be more accurate to precede these tests with a broadband screener that does not distinguish ASD from other developmental disorders. Screening tools designed for one culture’s norms for behaviors like eye contact may be inappropriate for a different culture. Genetic screening for autism is generally still impractical.
A “well child” check-up should include a developmental screening test. If your child’s pediatrician does not routinely check your child with such a test, ask that it be done. Your own observations and concerns about your child’s development will be essential in helping to screen your child. Reviewing family videotapes, photos, and baby albums can help parents remember when each behavior was first noticed and when the child reached certain developmental milestones. Some screening instruments rely solely on parent responses to a questionnaire, and some rely on a combination of parent report and observation. Key items on these instruments that appear to differentiate children with autism from other groups before the age of 2 include pointing and pretend play. Screening instruments do not provide individual diagnosis but serve to assess the need for referral for possible diagnosis of ASD. These screening methods may not identify children with mild ASD, such as those with high-functioning autism or Asperger syndrome. During the last few years, screening instruments have been devised to screen for Asperger syndrome and higher functioning autism. The Autism Spectrum Screening Questionnaire (ASSQ), the Australian Scale for Asperger’s Syndrome, and the most recent, the Childhood Asperger Syndrome Test (CAST), are some of the instruments that are reliable for identification of school-age children with Asperger syndrome or higher functioning autism. These tools concentrate on social and behavioral impairments in children without significant language delay. If, following the screening process or during a routine check-up, your child’s doctor sees any of the possible indicators of ASD, further evaluation is indicated.
36 THE PHENOMENON OF AUTISM
“WELL CHILD” CHECK LIST
THINGS YOU CAN DO BEFORE THE DOCTOR VISIT
Record/Write down observations and concerns Review family videos, photos, etc to help you remember when each behavior was first noticed Also record when the child reached certain developmental milestones Point and pretend play with child, record how he/she reacts
OPTIONS YOUR DOCTOR MAY GIVE YOU Developmental Screening Test
Autism Spectrum Screening Questionnarie (ASSQ)
Australian Scale for Asperger’s Syndrome
Childhood Asperger Syndrome Test (CAST)
CHAPTER 4: SCREENING + DIAGNOSIS 37
DIAGNOSIS Diagnosis is based on behavior, not cause or mechanism. Autism is defined in the DSM-IV-TR as exhibiting at least six symptoms total, including at least two symptoms of qualitative impairment in social interaction, at least one symptom of qualitative impairment in communication, and at least one symptom of restricted and repetitive behavior. Sample symptoms include lack of social or emotional reciprocity, stereotyped and repetitive use of language or idiosyncratic language, and persistent preoccupation with parts of objects. Onset must be prior to age three years, with delays or abnormal functioning in either social interaction, language as used in social communication, or symbolic or imaginative play. The disturbance must not be better accounted for by Rett syndrome or childhood disintegrative disorder. ICD-10 uses essentially the same definition. Several diagnostic instruments are available. Two are commonly used in autism research: the Autism Diagnostic Interview-Revised (ADI-R) is a semistructured parent interview, and the Autism Diagnostic Observation Schedule (ADOS) uses observation and interaction with the child. The Childhood Autism Rating Scale (CARS) is used widely in clinical environments to assess severity of autism based on observation of children. A pediatrician commonly performs a preliminary investigation by taking developmental history and physically examining the child. If warranted, diagnosis and evaluations are conducted with help from ASD specialists, observing and assessing cognitive, communication, family, and other factors using standardized tools, and taking into account any associated medical conditions. A pediatric neuropsychologist is often asked to assess behavior and cognitive skills, both to aid diagnosis and to help recommend educational interventions. A differential diagnosis for ASD at this stage might also consider mental retardation, hearing impairment, and a specific language impairment such as Landau窶適leffner syndrome. The presence of autism can make it harder to diagnose coexisting psychiatric disorders such as depression.
38 THE PHENOMENON OF AUTISM
Clinical genetics evaluations are often done once ASD is diagnosed, particularly when other symptoms already suggest a genetic cause. Although genetic technology allows clinical geneticists to link an estimated 40% of cases to genetic causes, consensus guidelines in the U.S. and UK are limited to high-resolution chromosome and fragile X testing. A genotype-first model of diagnosis has been proposed, which would routinely assess the genome’s copy number variations. As new genetic tests are developed several ethical, legal, and social issues will emerge. Commercial availability of tests may precede adequate understanding of how to use test results, given the complexity of autism’s genetics. Metabolic and neuroimaging tests are sometimes helpful, but are not routine. ASD can sometimes be diagnosed by age 14 months, although diagnosis becomes increasingly stable over the first three years of life: for example, a one-year-old who meets diagnostic criteria for ASD is less likely than a three-year-old to continue to do so a few years later. In the UK the National Autism Plan for Children recommends at most 30 weeks from first concern to completed diagnosis and assessment, though few cases are handled that quickly in practice. A 2009 U.S. study found the average age of formal ASD diagnosis was 5.7 years, far above recommendations, and that 27% of children remained undiagnosed at age 8 years. Although the symptoms begin early in childhood, they are sometimes missed; years later, adults may seek diagnoses to help them or their friends and family understand themselves, to help their employers make adjustments, or in some locations to claim disability living allowances or other benefits. Underdiagnosis and overdiagnosis are problems, and much of the recent increase in the number of reported ASD cases is likely due to changes in diagnostic practices. The increasing popularity of drug treatment options and the expansion of benefits has given providers incentives to diagnose ASD, resulting in some overdiagnosis of children with uncertain symptoms. Conversely, the cost of screening and diagnosis and the challenge of obtaining payment can inhibit or delay diagnosis. It is particularly hard to diagnose autism among the visually impaired, partly because some of its diagnostic criteria depend on vision, and partly because autistic symptoms overlap with those of common blindness syndromes.
CHAPTER 4: SCREENING + DIAGNOSIS 39
WHAT DISTRACTS YOU? Same illnes contracted at different ages, age determines what will distract a person
What distracts me? “too many sensations”
What distracts me? “too many things”
If extreme, I have Kanner’s Autism
If extreme, I have OCD/OCPD
Focus of my compulsion? Regulating my sensory input by self imposed repetition (sensory rituals)
Focus of my compulsion? Regulating how I sense things by repetitive rearranging (material rituals)
40 THE PHENOMENON OF AUTISM
8 MONTHS
TYPE 2 DISTRACTIONS
BIRTH
TYPE 1 DISTRACTIONS
TYPE 3 DISTRACTIONS
TYPE 4 DISTRACTIONS
What distracts me? “too many ideas”
What distracts me? “too many rules”
If extreme, I have Asperger’s Autism
If extreme, I have ADD Focus of my compulsion? Regulating how others make me think or feel (avoidance rituals)
22 MONTHS
16 MONTHS
Focus of my compulsion? Regulating how I understand ideas by repetitive mental sorting (mental rituals)
CHAPTER 4: SCREENING + DIAGNOSIS 41
The second stage of diagnosis must be comprehensive in order to accurately rule in or rule out an ASD or other developmental problem. This evaluation may be done by a multidisciplinary team that includes a psychologist, a neurologist, a psychiatrist, a speech therapist, or other professionals who diagnose ASD. Because ASDs are complex disorders and may involve other neurological or genetic problems, a comprehensive evaluation should entail neurologic and genetic assessment, along with in-depth cognitive and language testing. In addition, measures developed specifically for diagnosing autism are often used. These include the Autism Diagnosis Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS-G). The ADI-R is a structured interview that contains over 100 items and is conducted with a caregiver. It consists of four main factors—the child’s communication, social interaction, repetitive behaviors, and age-of-onset symptoms. The ADOS-G is an observational measure used to “press” for socio-communicative behaviors that are often delayed, abnormal, or absent in children with ASD. Still another instrument often used by professionals is the Childhood Autism Rating Scale (CARS). It aids in evaluating the child’s body movements, adaptation to change, listening response, verbal communication, and relationship to people. It is suitable for use with children over 2 years of age. The examiner observes the child and also obtains relevant information from the parents. The child’s behavior is rated on a scale based on deviation from the typical behavior of children of the same age. Two other tests that should be used to assess any child with a developmental delay are a formal audiologic hearing evaluation and a lead screening. Although some hearing loss can co-occur with ASD, some children with ASD may be incorrectly thought to have such a loss. In addition, if the child has suffered from an ear infection, transient hearing loss can occur. Lead screening is essential for children who remain for a long period of time in the oral-motor stage in which they put any and everything into their mouths. Children with an autistic disorder usually have elevated blood lead levels.
42 THE PHENOMENON OF AUTISM
Customarily, an expert diagnostic team has the responsibility of thoroughly evaluating the child, assessing the child’s unique strengths and weaknesses, and determining a formal diagnosis. The team will then meet with the parents to explain the results of the evaluation. Although parents may have been aware that something was not“quite righ” with their child, when the diagnosis is given, it is a devastating blow. At such a time, it is hard to stay focused on asking questions. But while members of the evaluation team are together is the best opportunity the parents will have to ask questions and get recommendations on what further steps they should take for their child. Learning as much as possible at this meeting is very important, but it is helpful to leave this meeting with the name or names of professionals who can be contacted if the parents have further questions.
CHAPTER 4: SCREENING + DIAGNOSIS 43
5
MANAGEMENT + PROGNOSIS The main goals of treatment are to lessen associated deficits and family distress, and to increase quality of life and functional independence. No single treatment is best and treatment is typically tailored to the child’s needs. Families and the educational system are the main resources for treatment. Studies of interventions have methodological problems that prevent definitive conclusions about efficacy. Although many psychosocial interventions have some positive evidence, suggesting that some form of treatment is preferable to no treatment, the methodological quality of systematic reviews of these studies has generally been poor, their clinical results are mostly tentative, and there is little evidence for the relative effectiveness of treatment options. Intensive, sustained special education programs and behavior therapy early in life can help children acquire self-care, social, and job skills, and often improve functioning and decrease symptom severity and maladaptive behaviors; claims that intervention by around age three years is crucial are not substantiated. Available approaches include applied behavior analysis (ABA), developmental models, structured teaching, speech and language therapy, social skills therapy, and occupational therapy. Educational interventions have some effectiveness in children: intensive ABA treatment has demonstrated effectiveness in enhancing global functioning in preschool children and is well-established for improving intellectual performance of young children. Neuropsychological reports are often poorly communicated to educators, resulting in a gap between what a report recommends and what education is provided. It is not known whether treatment programs for children lead to significant improvements after the children grow up, and the limited research on the effectiveness of adult residential programs shows mixed results.
Many medications are used to treat ASD symptoms that interfere with integrating a child into home or school when behavioral treatment fails. More than half of U.S. children diagnosed with ASD are prescribed psychoactive drugs or anticonvulsants, with the most common drug classes being antidepressants, stimulants, and antipsychotics. Aside from antipsychotics, there is scant reliable research about the effectiveness or safety of drug treatments for adolescents and adults with ASD. A person with ASD may respond atypically to medications, the medications can have adverse effects, and no known medication relieves autism’s core symptoms of social and communication impairments. Experiments in mice have reversed or reduced some symptoms related to autism by replacing or modulating gene function after birth, suggesting the possibility of targeting therapies to specific rare mutations known to cause autism. Although many alternative therapies and interventions are available, few are supported by scientific studies.Treatment approaches have little empirical support in quality-of-life contexts, and many programs focus on success measures that lack predictive validity and real-world relevance. Scientific evidence appears to matter less to service providers than program marketing, training availability, and parent requests. Though most alternative treatments, such as melatonin, have only mild adverse effects some may place the child at risk. A 2008 study found that compared to their peers, autistic boys have significantly thinner bones if on casein-free diets; in 2005, botched chelation therapy killed a five-year-old child with autism.
48 THE PHENOMENON OF AUTISM
AUTISM TREATMENT OPTIONS 100
THERAPY Applied Behavior Analysis (ABA)
90
Developmental Models Structured Teaching
80
Speech ad Language Therapy Social Skills Therapy Occupational Therapy
70
MEDICATION
60
Antidepressants Stimulants
50
Antipsychotics OTHER
40
Dietary Intervention (i.e. gluten-free, casein-free diet)
% SUCCESS RATE
30
Supplements, Vitamin B6
20
10
Birth–5
6–10
10–Up
CHAPTER 5: MANAGEMENT + PROGNOSIS 49
Treatment is expensive; indirect costs are more so. For someone born in 2000, a U.S. study estimated an average lifetime cost of $3.66 million (net present value in 2010 dollars, inflation-adjusted from 2003 estimate), with about 10% medical care, 30% extra education and other care, and 60% lost economic productivity. Publicly supported programs are often inadequate or inappropriate for a given child, and unreimbursed out-of-pocket medical or therapy expenses are associated with likelihood of family financial problems; one 2008 U.S. study found a 14% average loss of annual income in families of children with ASD, and a related study found that ASD is associated with higher probability that child care problems will greatly affect parental employment. U.S. states increasingly require private health insurance to cover autism services, shifting costs from publicly funded education programs to privately funded health insurance. After childhood, key treatment issues include residential care, job training and placement, sexuality, social skills, and estate planning. Public and private spending for specialized human services has increased dramatically over the past two decades. So have concerns about the investment of public resources in these services. For example, research has shown that without effective intervention, most people with autism and other pervasive developmental disorders (PDD) require lifelong specialized educational, family, and adult services. Every year, millions of dollars are spent on interventions for autism/PDD that have little or no proven efficacy. It is prudent, therefore, to ask how investments in services are likely to pay off in the long run, and how to make the best use of the limited resources available for educating and treating people with autism/PDD. Research with children who have, or are at risk for, various disabilities has shown that effective early intervention can substantially reduce their need for specialized services later on. To be effective, however, Guralnick (1998) and Ramey and Ramey (1998) found that early intervention must be comprehensive, intensive, extended over time, individualized, and delivered directly to children. Of course, such intervention is neither cheap nor easy, so it is important to determine how this kind of intervention is likely to pay off not only in benefits to particular children and families but also in financial savings.
50 THE PHENOMENON OF AUTISM
AVERAGE US ANNUAL OUT OF POCKET TREATMENT COSTS PER CHILD BY DIAGNOSIS
AUTISM
$6,414
$5,824
PDD-NOS
ASPERGER
$4,064
$5,813
OTHER ASD
(US $)
1,000
2,000
3,000
4,000
5,000
6,000
7,000
8,000
CHAPTER 5: MANAGEMENT + PROGNOSIS 51
Many hurdles face any modern couple with children. They must somehow balance work and family demands while getting the bills paid, the laundry done, the meals cooked, the dishes washed, and the homework handled. For couples with a child on the autism spectrum there are many additional challenges. For one thing, they must somehow cope with an array of extra child management tasks such as investigating treatments, finding providers, wrestling with insurance companies, getting children to frequent appointments, or preparing for and attending Individualized Education Plan (IEP) meetings. For another, there is the emotional toll involved when any couple learns that their child has a disability. How they cope and adapt certainly has implications for the health of their ongoing relationship. What did mothers and fathers participating in the IAN Research project report about the impact of having a child with an ASD on the couple’s relationship? Many described very positive and very negative effects on their marriage or partnership, both simultaneously and over time. Still, when forced to choose, 60% of mothers and 54% of fathers said that having a child with an ASD resulted in a “somewhat” or “very negative impact” on the couple relationship. It is heartening to note that research has not shown that parenting a child with a disability always has an overall negative effect on the parents’ relationship. Despite all the difficulties, couples with a child with an ASD have been shown to be no different from typical parents when it comes to reports of spousal support, respect for partner, or commitment. Another encouraging fact: we could find absolutely no support for the 80% divorce rate for families with a child with ASD commonly cited around the autism community. A study looking at divorce rates for families of children with assorted disabilities found an average increase (over the rate for couples with non-disabled children) of only 5.97%. An Easter Seals’ survey of families with a child on the autism spectrum, moreover, found parents of a child with an ASD to be less likely to have ever been divorced than the parents of a typically developing child. (The IAN Project hopes to launch a questionnaire at some point that will permit IAN families to tell us about their experience. How many parents are still with the other parent of their child with ASD? If they are not together, to what extent do they feel the child’s ASD played a role?)
54 AUTISM: RESTRICT + REPEAT
IMPACT ON MARRIAGE DUE TO HAVING AN AUTISTIC CHILD
Very Positive Somewhat Positive No Impact Somewhat Negative Very Negative
CHAPTER 5: MANAGEMENT + PROGNOSIS 55
What areas of marital difficulty have researchers described? In one study, couples with a child with an ASD reported less relationship satisfaction and less social support than parents of typically developing children. Another study looked at families with a child with a developmental disability, a mental health problem, or no issue at all. The researchers studied these families over a number of years in order to see how they adapted and coped over the life course. They discovered that parents of children with developmental challenges had lower rates of employment and social participation, but were the same as “normal” couples when it came to marital status, physical health, and psychological well-being. Those with a child with a mental health problem fared somewhat worse. Although they also were the same as “normal” couples when it came to marital stability, they experienced more physical problems and depression. It should be noted that some children with ASD also have mental health problems, such as anxiety or depression. It may be that the parents of children with both ASD and a mental health issue struggle even more than those of children with ASD alone. One issue frequently mentioned by IAN parents was a dramatic lack of couple time…and being too exhausted to make the most of it when there was time. One mother said, “We both share a deep love for and dedication to our son, but we have no time whatsoever for each other. My husband works two full-time jobs to compensate for my staying home, and to compensate to some degree for the amount of damage to the house that our son’s behavior causes.” “It is tough on my husband that my son requires so much of me,” one weary mother admitted. “And when I have time for my husband, I am often too tired (or just not in the mood) for intimacy.” Another mother also expressed how hard it was to devote any time to the husband-wife relationship. “My husband is very supportive of me and works hard to provide for me and our children. However, it is a challenge to share intimate moments. I think that he doesn’t think that he is a priority for me.”
56 AUTISM: RESTRICT + REPEAT
What did IAN parents identify as a cause of marital conflict? Two issues that stood out were the division of labor—with mothers feeling they bore much more of the child management burden—and any one member of the couple’s denial. Conflict over the household division of labor is not uncommon even among couples who do not have a child with a disability. For couples that must manage the many additional tasks involved when a child has special needs, the issue can become thornier. In a study of couples with a child with Down Syndrome, mothers said they performed the bulk of child-focused and household tasks, and were dissatisfied with the unfair division of labor. On the other hand, women taking part in some studies admitted that at times they blocked fathers from a larger role, feeling the mothers were more in tune with the child, or otherwise more qualified to meet the child’s needs. Speaking of his marriage as “doomed to fail,” one IAN father said, “When we were together she wouldn’t allow me to work with him as if she felt I was taking away from her.” In a study of Australian couples with a child with high functioning autism, fathers tended to view the day-to-day work of child raising as their wife’s territory; viewed the largest personal impact on them as arising from the indirect effect of having a child with a disability on their relationship with their wife; and benefitted from having a life outside the home, in the work place. One father taking part in the study said, “A lot of the burden tends to be put on the mother because the father is working... The father essentially has respite care five days a week.” A few fathers admitted escaping from the situation at home by working more and more hours. Of course, if the mother is the one staying home, she will likely bear the brunt of a child’s difficult behaviors and the social isolation that can result. Gray did note that mothers were the most likely parent to experience emotional distress. Another study, this one examining the differences in stress and coping for 103 parents of children with Asperger’s syndrome and nonverbal learning disorders, likewise found that “mothers had higher rates of stress related to family problems and pessimism about their child’s future, higher rates of antidepressant use, and higher rates of therapy use than did fathers.”
CHAPTER 5: MANAGEMENT + PROGNOSIS 57
One of the Australian mothers in Gray’s study said: “Fathers do go off to work... They don’t have to think about autism... Mothers have to do that. They have to take their kids to the doctor and they have to deal with teachers and they have to deal with the neighbours if the kid hoses the neighbour’s cat...” Echoing the same sentiments, an IAN mother told us, “Sometimes my husband doesn’t understand how hard and how much stress raising an ASD child is.” Although some IAN fathers were deeply involved in meeting the needs of their child with ASD, to the point of giving up a career to stay home, others were not. It is interesting to note that researchers looking at parents of children with health issues found that one strategy employed more often by fathers than mothers was avoidance. “The avoidance strategy mainly involves evading, escaping from, or denying the problem,” they reported. In their comments, IAN parents frequently mentioned a refusal to accept the ASD diagnosis on the part of their spouse as a huge problem and source of disagreement. This was not escape to the work place, but escape from the reality of the situation. One mother said, “My husband was in denial for years and still is to some extent. He also did not want our son to get therapy of any kind. I had to do it behind his back at first and he never went to meetings with doctors or the school…” Sometimes a parent could simply not cope. One mother said of her child’s father, “He couldn’t deal with it. He took off.” Another reported that her husband declined into substance abuse after the diagnosis, while yet another related that her husband left as soon as the pediatrician suggested their child be evaluated. Some parents told us they had come to believe their partner had a previously unrecognized ASD, which further complicated matters. “My son’s father possibly has an ASD himself, and depression,” said one mother. “He refuses to accept his son’s diagnosis and refuses to get the help he needs himself so I have been the only parent in the house to take responsibility for my son’s care emotionally, physically, and educationally. So to say there is resentment towards his father is an understatement. This has had a very negative impact on our marriage… We have stayed together because financially it would be impossible for me.”
58 THE PHENOMENON OF AUTISM
EXTENT OF CURRICULUM MODIFICATION FOR STUDENTS WITH AUTISM IN GENERAL EDUCATION
47% Some Modifications
33% Unmodified
12% Substantial Modifications
8% Specialized Curriculum
CHAPTER 5: MANAGEMENT + PROGNOSIS 59
PROGNOSIS No cure is known. Children recover occasionally, so that they lose their diagnosis of ASD; this occurs sometimes after intensive treatment and sometimes not. It is not known how often recovery happens; reported rates in unselected samples of children with ASD have ranged from 3% to 25%. A few autistic children have acquired speech at age 5 or older. Most children with autism lack social support, meaningful relationships, future employment opportunities or self-determination. Although core difficulties tend to persist, symptoms often become less severe with age. Few high-quality studies address long-term prognosis. Some adults show modest improvement in communication skills, but a few decline; no study has focused on autism after midlife. Acquiring language before age six, having an IQ above 50, and having a marketable skill all predict better outcomes; independent living is unlikely with severe autism. A 2004 British study of 68 adults who were diagnosed before 1980 as autistic children with IQ above 50 found that 12% achieved a high level of independence as adults, 10% had some friends and were generally in work but required some support, 19% had some independence but were generally living at home and needed considerable support and supervision in daily living, 46% needed specialist residential provision from facilities specializing in ASD with a high level of support and very limited autonomy, and 12% needed high-level hospital care. A 2005 Swedish study of 78 adults that did not exclude low IQ found worse prognosis; for example, only 4% achieved independence. A 2008 Canadian study of 48 young adults diagnosed with ASD as preschoolers found outcomes ranging through poor (46%), fair (32%), good (17%), and very good (4%); 56% of these young adults had been employed at some point during their lives, mostly in volunteer, sheltered or part-time work. Changes in diagnostic practice and increased availability of effective early intervention make it unclear whether these findings can be generalized to recently diagnosed children.
60 THE PHENOMENON OF AUTISM
RATE OF INDEPENDENCE INVOLVING ADULTS WITH AUTISM
12% achieved a high level of independence as adults 10% had some friends and were generally in work but required some support 19% had some independence but were generally living at home and needed considerable support and supervision in daily living 46% needed specialist residential provision from facilities specializing in ASD with a high level of support and very limited autonomy
12% needed high-level hospital care
* This study involved 68 adults who were diagnosed before 1980 as autistic children with an IQ above 50
CHAPTER 5: MANAGEMENT + PROGNOSIS 61
6
REAL LIFE Sharky Munat was 2 years old when the police came. For 45 minutes the toddler’s screams pierced the thin walls of his mother’s two-bedroom apartment, until a neighbor finally called the cops. His mother was used to screaming from her unusual child, who cried for hours if she simply laughed while watching television. But Lillie Addams felt sick when a police officer stopped them to check her son for bruises as they walked to a neighborhood park. The officer quickly realized there was no attack -- he was just one of “those kinds of kids”—but his mother wouldn’t know the kind was autistic for two more years. “Check it out, buddy. If you keep it up, they are going to take you away,” the onetime ballet dancer told her son once the officer let them go. Then she sat on a park bench and cried for an hour. Children have autism, but parents are often invisible casualties. Their child’s disorder ricochets through their lives, breaking up marriages, draining bank accounts and robbing them of sleep. University of Washington researchers found these parents, among all with disabled children, suffer the highest levels of depression and anxiety symptoms, and parenting stress.
Since Sharky was diagnosed, his mother has dealt with depression, chest-seizing anxiety attacks, insomnia and incessant guilt that she wasn’t doing enough. “It’s this overwhelming sense of powerlessness,” Addams said. “I feel blamed by society, by insurance companies. As if it was somehow our fault.” Seattle may be a leading center for autism research and treatment, but its therapists and the medical community can’t handle the growing number of families dealing with the disorder. Today, as many as one in 150 children are diagnosed with autism, up from three to four out of 10,000 a decade ago. More than a year after Sharky’s diagnosis, the Addams family felt alone and stressed. Without a map for treatment, they, like other Seattle parents of autistic children, were stuck in a maze of therapies for a disorder with no cure. There are few insurance plans that cover touted behavioral treatments and not enough therapists or slots at specialized schools. Parents can wait 18 months for services—after doctors urge them to begin treatment quickly—and pay tens of thousands of dollars a year out of their own pockets for therapy. Over the past year and a half, Sharky’s three parents -- Lillie, her ex-husband, Ted Munat, and her partner, Stormy Addams—have visited a dozen doctors, therapists and classrooms, yet they still can’t fill big gaps in their son’s treatment. “Everywhere we have gone they are pushing you in different directions,” Stormy Addams, 43, said. “Or they are pushing against you.” On a cool afternoon in April 2007 while many 4-year-olds play at nearby Miller Park, Sharky comes home from school and stays inside his Capitol Hill apartment, running across the wood floors like any kid his age, and talking about Spider-Man and Big Wheels. But he runs across the same area again and again, his ponytail and hands flapping around him, uttering words often impossible to understand. By his third birthday, this engaging child had choked a baby and wanted to kill the family cat.
64 THE PHENOMENON OF AUTISM
CHILD WITH AUTISM: FAMILY IMPACT (FRIENDSHIPS AND SOCIAL NETWORK)
5%
14%
44%
Very Positive Somewhat Positive
15%
No Impact 23% Somewhat Negative Very Negative
CHAPTER 6: REAL LIFE 65
THE DAILY GRIND Like an invasive weed, Sharky’s autism permeated most daily routines for his first four years. At dinnertime in June, Stormy Addams snatches Sharky’s broiled salmon from their tiny oven, puts it in the freezer and then onto his Hello Kitty placemat, hoping to avoid a scene. “Make it colder. Make it cold. Make it cold,” Sharky begs again and again because if it’s warm, he likely won’t eat, he will shriek with the same terror as when his bath is too warm. Then a bite of salmon falls onto Sharky’s Spider-Man T-shirt and he begins swiping at it compulsively. When another morsel drops to the floor, he finally screams, and Lillie Addams ushers him to the first of four timeouts in his bedroom. After two hours of this, dinner finally ends, and it’s off to the bathroom, where one parent holds him down so he won’t thrash while the other brushes his teeth. Even after the 4-year-old falls asleep in Stormy and Lillie’s queen-size bed that night, he thrashes, eventually bloodying Lillie Addams’ nose. “Everything is all drama,” Stormy Addams says. Fast-forward 10 months, and Sharky has taken impressive strides. His sweet social nature now far outweighs more typical outbursts of 30 minutes or less.
66 THE PHENOMENON OF AUTISM
But his speech and comprehension remain noticeably delayed, and his mother’s worry is just as intense, though now focused on finding and paying for therapy and the right school. That means Lillie Addams often sleeps in bursts of two to four hours. She tried Ambian, Lunesta and Trazodone, but they worked only for a few months. “What I am not doing?” Lillie Addams, 39, asked. Last fall the worry got so bad, she thought she was having a heart attack when her chest began tightening. It turned out to be anxiety attacks. Since autism remains such a mystery, parents battle this anxiety for years and constantly manage their expectations. When Sharky turned 4, Lillie Addams thought he would never go to college. Now she is not sure. “Now I just hope he can lead an independent life, and have a girlfriend, or someone to love.” Her maternal hopes fluctuate because her son’s autism is impossible to pigeonhole. With an infectious smile, he plays peacefully with his 5-year-old neighbor in the apartment courtyard one day and tells his father he loves him 20 times the next. “Lots of friends of mine, their first comment is: ‘What a happy child he seems to be,’ “ Munat said.
CHAPTER 6: REAL LIFE 67
But Sharky always struggled to speak and understand. In the fall of 2006, a group of therapists, psychologists and nurses told them why, diagnosing him with autism, but not much else. “It was kind of like this is what you got. See ya bye. We’ll send you some paperwork,” Lillie Addams said. Since then, Addams has struggled to understand a disorder that’s so hard to define that children are diagnosed on a spectrum. She still doesn’t know where her son falls on that scale. Meanwhile, treatment costs easily overwhelmed this family, which earns a combined $70,000 a year. They would love to get Sharky intensive behavioral therapy, for example, but they can’t afford it. “It’s like having a carrot dangled in front of you,” Addams said. “I make $30,000 a year, and often the cost of ABA (behavioral therapy) is $30,000.” With little extra money, the three parents patched together Sharky’s treatment plan over the last year, and worried his window to progress was closing because of what he missed. Sharky was diagnosed with Autism at the age of 4, later than many children with autism. The expense is one more layer of worry on an already complicated family. Lillie Addams and Munat divorced in 2002, and now split custody. Yet this threeparent arrangement works, and Stormy Addams’ role as stay-at-home mom and ad hoc therapist is clearest, etched in a tattoo of her cradling Sharky that runs down Lillie Addams’ entire thigh.
68 THE PHENOMENON OF AUTISM
PLANS FOR THE FUTURE Autism is everywhere these days—in People magazine, on Oprah, the presidential campaign trail and YouTube—but none of this attention, or fresh state and federal money, has reached this family. Instead, Lillie and Stormy Addams are so desperate that they may move to Colorado, California or Canada, anywhere that promises better support when Sharky’s state benefits run out at age 7. Amid their worry, Sharky makes progress. Over the last year, he learned to use the toilet, ride his Big Wheel, sleep in his own bed and brush his teeth. To reduce their stress, the family now does yoga together every morning, and his mothers just resumed their only other stress reliever: going to the gym. His meals and baths, though, are still served cold, and his mother still worries. That’s because Sharky will finish kindergarten this June at the UW’s Experimental Education Unit. His parents wanted him to spend another year at the school because he lacks basic skills, such as writing his name, but he has to move on. They haven’t been told where. But Sharky has improved outside special schools and therapy sessions. A year ago, he slipped on his first pair of black ballet slippers. Now every Thursday inside a North Seattle studio, Sharky glissades alongside his teacher and assumes a classic port de bras, his intense focus intermittently broken by a toothy grin. “The more time I spend, the more hope I see,” Lillie Addams said.
CHAPTER 6: REAL LIFE 69
7
CONCLUSION The best thing you can do to help your child is to work with the professional team. Be informed of the issues surrounding your child’s treatment and outlook. Be sure you are clear about the goals of therapy and how they are to be achieved. Be organized and cooperative in supplying all information required by the team. Communicate your questions and reservations about the treatment plan so they can be addressed. There is no known way to prevent autism. Research into the genetics of autism may eventually offer interventions that can correct genetic errors before the signs and symptoms of autism develop. Although, to different degrees of severity, the core features of autism are life long, predicting the course for an individual with autism is very difficult. Many different variables enter into each person’s experience with autism, including the symptoms and associated behaviors and their severity, the family environment, and the types of interventions used. An individual’s IQ (particularly verbal IQ) is often a predictor of future functioning, with increasing IQ and communication skills associated with an increased ability to live independently. Some people with autism are able to develop their communication and social skills to a degree that allows them a fair degree of independence. Others can learn some skills but still require ongoing support from their family and others throughout their lives.
INDEX
A
C
Aggression, 16
Casein-Free, 48
Applied Behavior Analysis (ABA), 47, 48
Causes, 25, 56
Anticonvulsants, 49
Central Coherence Theory, 33
Antidepressants, 49
Characteristics, 03, 15
Antipsychotics, 49
Childhood Autism, 03, 10, 39
Anxiety Disorder, 08 Asperger, Hans, 03
Childhood Disintegrative Disorder, 06, 10, 39
Asperger Syndrome, 03, 29
Cingulate Cortex, 29
Association Cortex, 30
Classification, 10, 13
Atypical Autism, 10
Cognitive Intervention, 06, 29, 32
Auditory Signals, 30
Communication, 01, 15, 38, 42, 48, 60
Autism Spectrum Disorder (ASD), 01, 10, 16
Cell-Adhesion, 29
Complex Disorder, 25, 42
Autismus, 02
Congenital Syndrome, 10
Autistic Diagnostic Interview-Revised (ADI-R), 38, 42
Childhood Autism Rating Scale (CARS), 38, 42
Autistic Diagnostic Observation Schedule (ADOS), 38, 42
D
Autistic Disorder, 10, 42
Default Network, 29 Deletion, 25
B Behavioral Therapy, 01, 69
Developmental Disorder, 03, 16, 20, 35
Bleuler, Eugen, 02, 03
Diffusion Tensor Imaging, 11
Brain-Imaging, 29
Duplication, 25, 27
E
I
Early Screening of Autistic Traits Questionnaire, 35
Immunization, 26
Eating Behavior, 15, 20
Infantile Schizophrenia, 03
Echolalia, 19, 35, 58
Inhibitory, 28
Enhanced Perceptual Functioning, 35
Insomnia, 08, 64
Epigenetic, 25
K
Epilepsy, 08, 28
Infantile Autism, 03, 10
Kanner, Leo, 03
Excitatory, 28 Executive Function, 33
F
M Magnetoencephalography, 30 Maladaptive Behavior, 47
fMRI, 11
Meiosis, 25
Fragile X Testing, 25, 39
Melatonin, 48
First Year Inventory Qualitative Impairment, 35
Mendelian Condition, 08, 25
G Gastrointestinal (GI) Symptoms, 20 Gene Replacement, 26
Mental Retardation, 03, 08, 10, 16, 38 Metabolism, 29 Mirror Neuron System (MNS), 29, 33
Genotype, 39
Modified Checklist for Autism in Toddlers (M-CHAT), 35
Goal-Directed Thinking, 29
Motor Signs, 20, 42
Growth Hormones, 29
Multigene, 25
H High-Resolution Chromosome, 39
76 THE PHENOMENON OF AUTISM
Mutations, 01, 06, 25, 26, 28, 48
N
P
Neurexin, 28
Parental Genome, 25
Neuroanatomical, 28
Parkinson’s, 28
Neurochemicals, 29
Pathophysiology, 27, 28, 33
Neurodevelopmental Disorder, 15
Pediatrics, 11
Neurogenetic Studies, 11
Pervasive Developmental Disorders (PDD), 10, 13, 50
Neuroimaging, 30, 39 Neuroligin, 28 Neurology, 11 Neuropsychology, 32 Neurotypicals, 16 Non-Syndromal Autism, 10
O Occupational Therapy, 47 Overconnectivity Theory, 28, 30
PDD Not Otherwise Specified (PDD-NOS), 01, 06, 10 Phenylketonuria, 08 Phenotypes, 10, 11, 25 Psychiatry, 03, 11 Psychoactive Drugs, 48 Psychology, 03, 11 Psychometrically, 32 Psychosocial Intervention, 47
R Repetitive Behavior, 01, 10, 15, 33, 39, 42 Restricted Behavior, 01, 15, 38 Rett Syndrome, 10, 38
INDEX 77
S
U
Sally-Anne Test, 33
Underconnectivity Theory, 30, 33
Serotonin, 29 Sensory Abnormalities, 20
V
Social Cognition, 30, 32, 33
Vaccination, 26
Social Development, 16
Violence, 16
Splinter Skills, 20 Stimulants, 48 Stress, 08, 20, 26, 57, 58 Structured Teaching, 47 Sustained Attention, 29, 47 Synapses, 01, 26, 28 Synaptic Dysfunction, 26 Synaptic Protein, 28 Synchronization, 30 Syndromal Autism, 10
T Tantrums, 16 Tuberous Sclerosis, 10 Teratogens, 26, 28 Task-Positive Network, 29
78 THE PHENOMENON OF AUTISM
COLOPHON The original source for this book was created in InDesign and output as a PDF. The diagrams in the book were created using Illustrator and the text was formatted in InDesign. Photographs were enhanced using Photoshop. The typeface used in this book is Univers. This book was printed on text weight LX wht fino from the Paper Source. It was printed in Oak Park, IL on a Brother inkjet printer. The binding is side sewn.