Autism and Autism Spectrum Disorder (ASD)

DSM-5: ASD Diagnostic Criteria

(A) Persistent deficits in social communication and social interaction across multiple contexts, as manifested by the following, currently or by history (examples are illustrative not exhaustive): (1) Deficits in social-emotional reciprocity, ranging, for example, from abnormal social approach and failure of normal back-and-forth conversation; to reduced sharing of interests, emotions, or affect; to failure to initiate or respond to social interactions. (2) Deficits in nonverbal communicative behaviors used for social interaction, ranging, for example, from poorly integrated verbal and nonverbal communication; to abnormalities in eye contact and body language or deficits in understanding and use of gestures; to a total lack of facial expressions and nonverbal communication. (3) Deficits in developing, maintaining and understanding relationships, ranging, for example, from difficulties adjusting behavior to suit various social contexts; to difficulties in sharing imaginative play or in making friends; to absence of interest in peers. Specify current severity based on social communication impairments and restricted, repetitive patterns of behavior. (B) Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at least two of the following, currently or by history (examples are illustrative, not exhaustive): (1) Stereotyped or repetitive motor movements, use of objects, or speech (e.g., simple motor stereotypies, lining up toys or flipping objects, echolalia, idiosyncratic phrases). (2) Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal behavior (e.g., extreme distress at small changes, difficulties with transitions, rigid thinking patterns, greeting rituals, need to take same route or eat same food every day). (3) Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests). (4) Hyper-or hyporeactivity to sensory input or unusual interest in sensory aspects of environment (e.g., apparent indifference to pain/temperature, adverse response to specific sounds or textures, excessive smelling or touching of objects, visual fascination with lights or movement). Specify current severity based on social communication impairments and restricted, repetitive patterns of behavior. ( C) Symptoms must be present in early developmental period (but may not become fully manifest until social demands exceed limited capacities, or may be masked by learned strategies in later life). (D) Symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning. (E) These disturbances are not better explained by intellectual disability (intellectual developmental disorder) or global developmental delay. Intellectual disability and autism spectrum disorder frequently co-occur; to make comorbid diagnoses of autism spectrum disorder and intellectual disability, social communication should be below that expected for general developmental level. Note: Individuals with a well-established DSM-IV diagnosis of autistic disorder, Asperger's disorder, or Pervasive Developmental Disorder, Not Otherwise Specified, should be given the diagnosis of autism spectrum disorder. Individuals who have marked deficits in social communication, but whose symptoms do not otherwise meet criteria for autism spectrum disorder, should be evaluated for social (pragmatic) communication disorder. Specify if: With or without accompanying intellectual impairment With or without accompanying language impairment Associated with a known medical or genetic condition or environmental factor Associated with another neurodevelopmental, mental, or behavioral disorder With catatonia

Description and History

-ASD is a DSM-5 disorder characterized by signifi-cant and persistent deficits in social interaction and communication skills and by restricted and repetitive patterns of interests and behaviors (APA, 2013). As we shall see, ASD is not one particular thing. Although all children with ASD display its core features, children vary widely in the form, pervasiveness, and severity of their symptoms, abilities, associated conditions, and needed supports -Although childhood-onset schizophrenia (COS) is not on the autism spectrum in DSM-5, we conclude the chapter with a separate section about this disorder. Historically, autism and COS were thought of as a single condition. Subsequently, they came to be viewed as distinct disorders, with different family histories, outcomes, and associated features (Fitzgerald, 2014). However, findings from recent studies using newer research methods suggest that there may be more overlap between autism and COS than previously thought, and the links between the two are actively being reexamined -Most people have seen or heard the frequent media messages about ASD. Although interest in ASD is at an all-time high, ancient stories suggest that children with this disorder have been around for centuries. For example, stories of elfin children, left in the place of real human babies who were stolen away by the "little people," describe these "changelings" as strange and remote, much like a child with ASD (Wing & Potter, 2002). Early accounts of so-called feral children (e.g., children like Victor of Aveyron [described in Chapter 1] who were isolated from human contact from a very young age) likely represent the first anecdotal reports of children with ASD (Wolff, 2004). The factual history of autism begins in 1943, when psychiatrist Dr. Leo Kanner described 11 children who, in the first few years of life, displayed more attention to objects than to people, avoided eye contact, lacked social awareness, had limited or no language, and displayed stereotyped motor activities. They also exhibited preservation of sameness, which is an anxious and obsessive insistence on the maintenance of sameness in daily routines and activities, which no one but the child may disrupt. Their parents described them as "acting as if people weren't there" and "oblivious to everything around him" (Kanner, 1943, p. 242). Around the same time, Dr. Hans Asperger, an Austrian doctor, described a milder form of this disorder that became known as Asperger's dis-order (Asperger, 1944). Because of the intense interests of the children he studied and their lengthy descriptions of these interests, he compared them to "absent-minded professors." Interestingly, Dr. Asperger's own preoccupa-tions, interests, and social aloofness suggest that he him-self may have had symptoms of the disorder -Kanner (1943, 1944) used the term early infan-tile autism (autism literally means "within oneself") to describe these children. There is, said Kanner, "an extreme autistic aloneness that, whenever possible, dis-regards, ignores, shuts out anything that comes to the child from outside" (1943, p. 242). He described the parents of the children he observed as highly intelligent and obsessive people who were cold, mechanical, and detached in their relationships—called the "refrigerator parent" (who, according to Kanner, just happened to "defrost enough to produce a child"). Although he clearly saw autism as an inborn deficit, he also planted the seeds for the psychoanalytic view that "the pre-cipitating factor in infantile autism is the parent's wish that his child should not exist" (Bettelheim, 1967, p. 125). This early view that autism resulted from a child's defensive withdrawal from an intellectual, cold-hearted, and hostile parent is unsupported. Children with autism have not withdrawn from reality because of a mental disorder—rather, they have failed to enter reality because of widespread and serious disturbances in their development. Autism is now recognized as a strongly biologically based lifelong neurodevelop-mental disorder that is present in the first few years of life -Children with ASD behave in unusual and fre-quently puzzling ways. They may squeal with excite-ment at the sight or sound of a wheel spinning on a toy car, yet ignore or have a full-blown tantrum if someone attempts to play with them. At times they may look through you as if you are a pane of glass, but other times stare directly into your face or tug on your arm to lead you to something they want. When you speak to a child with ASD, she may act as if she is deaf, but then quickly turn in the direction of the faint crinkling sound of a candy wrapper in another room. -Some children with ASD display extreme fear or avoidance of noisy or moving objects such as running water, swings, elevators, battery-operated toys, or even the wind. One child was so afraid of a vacuum cleaner that he would not go anywhere near the closet where it was kept. When someone used it in the house, he ran to the garage and covered his ears. Yet the same child was oblivious to the sounds of traffic roaring by him on a dangerous freeway. Although children with ASD fear many things, they are also attracted to and preoc-cupied with other objects and activities—for example, a rotating fan or a flickering light. These children often develop unusual attachments or reactions to odd objects, such as a rubber band, a piece of sandpaper, or a string. -eptual abilities—for example, identifying the brand of a vacuum cleaner by its sound alone. These percep-tual abilities may result in distress in response to minor changes in the environment—shown, for instance, by screaming, kicking, and lashing out at others if a chair is moved from its usual location. They may spend hour after hour playing in a corner of their room, engaged in stereotyped or repetitive motor activities, such as rocking, lining up objects, or repeatedly flapping their hands and fingers as they flip through pages of a maga-zine. Rather than seeing the big picture, children with ASD are much more likely to fixate on a minuscule object or event in their world, such as a tiny spot on their shirt. Although most of us see the hugeness of trees in the forest, a child with autism is more likely to fixate on one pine needle.

Medical Conditions and Physical Characteristics

-About 10% of children with ASD have a coexisting medical condition that may play a causal role in their disorder (Challman et al., 2003; Fombonne, 2003). These include motor and sensory impairments, seizures, immunological and metabolic abnormalities, obesity, sleep problems, and gastrointestinal symptoms (IACC, 2011). About 25% of individuals with ASD experience seizures (Mouridsen, Rich, & Isager, 2011). Seizure onset usually occurs either in early childhood or more often in late adolescence or early adulthood (Bolton et al., 2011; Parmeggiani et al., 2010), with early-onset seizures typically associated with greater ID and poorer outcomes (Saemundsen, Ludvigsson, & Rafnsson, 2008). Sleep disturbances are also common, occurring in about 65% of children with ASD, and are typically related to the sleep-wake rhythm and prob-lems with sleep onset and maintenance (Hollway & Aman, 2011). Sleep disorders in children with ASD are associated with a wide variety of behavior prob-lems, making it essential to assess and treat sleep prob-lems when working with these children (Malow et al., 2016; Mazurek & Sohl, 2016). Also common are gas-trointestinal symptoms such as abdominal pain, con-stipation, bloating, diarrhea, and nausea, occurring in about 50% of children with ASD (McElhanon et al., 2014). These may be related to food selectivity and allergies and to unusual eating habits and obsessions ranging from minor problems in eating, to disruptive mealtime behaviors, to clinically significant feeding problems, and to anxiety -Children with ASD are usually described as having a normal or attractive physical appearance, and they do not display the visible physical deviations that often accompany severe ID that is not associated with ASD. They may have subtle but distinctive minor physical anomalies such as facial asymmetries, which sug-gest the influence of genetic or other prenatal factors -Many individuals with ASD have a head size that is above or significantly larger than average (Redcay & Courchesne, 2005). This characteristic is more common in higher-functioning individuals and distinguishes them from individuals with ID, language disorder, and ADHD (Gillberg & de Souza, 2002). Interestingly, infants with ASD tend to have a smaller-than-average head size at birth, but then show an excessive increase in growth from 6 to 12 months, leading to the larger-than-normal head size observed at a later age, which is then followed by a deceleration in head growth in adolescence (Courchesne, Carper, & Akshoomoff, 2003; Dawson et al., 2007). The cause of this rapid growth during the first year of life is not known, but one implication is that the overproduc-tion of brain connections too quickly makes it difficult for developing children with ASD to adapt to and make sense out of their experiences (Lewis & Elman, 2008). Atypical synaptic pruning has also been proposed as a mechanism for the abnormal neurodevelopment seen in children with ASD (Thomas et al., 2016). Recent evalu-ations of head-circumference data in ASD studies sug-gest that previous findings could be related to the use of outdated norms or norms that do not adjust for impor-tant covariates (e.g., genetic ancestry, height, age; Chaste et al., 2013; Raznahan et al., 2013). Thus, it remains to be established whether the "accelerated" growth in head size is specific to children with ASD when contemporary or adjusted norms are used.

Cause: Brain Abnormalities

-Although there is no known biological marker for ASD, impressive advances have been made in documenting the neurobiological basis of the disorder (Hernandez et al., 2015; Parellada et al., 2014). Current research suggests that the behavioral features of ASD may result from abnormalities in brain structure and functioning that are consistent with early disturbances in neural development, possibly tracing back to prenatal devel-opment (Stoner et al., 2014; Xiao et al., 2014). Impor-tantly, although many brain regions are implicated, the disorder does not result from an abnormality localized in just one part of the brain. Rather, it seems to result from a lack of normal connectivity across brain net-works that underlie the core features of ASD -Neuropsychological impairments in ASD occur in many domains, including verbal intelligence, ori-enting and selective attention, memory, pragmatic lan-guage, and executive functions (Dawson et al., 2002). The widespread nature of these deficits suggests that multiple regions of the brain are involved at both the cortical and subcortical levels (Happé & Frith, 1996). The types of neuropsychological deficits also vary as a function of the severity of the child's disorder. For example, low-functioning children with ASD may show impairments in basic memory functions, such as visual recognition memory, which are mediated by the brain's medial temporal lobe (Barth, Fein, & Waterhouse, 1995). In contrast, high-functioning children may have more subtle deficits in working memory or in encoding complex verbal material, suggesting the involvement of higher cortical functions (

Early Intervention

-As methods to identify ASD at a very young age have developed, possibilities for effective early interven-tion with infants and toddlers increased dramatically (Wallace & Rogers, 2010). The promise of early inter-vention derives, in part, from the plasticity of neural sys-tems early in development (Mundy & Neal, 2001) and the fascinating hypothesis that providing very young children with ASD with intensive and highly structured experiences may alter their developing brains in ways that permit outcomes that are not otherwise possible (Dawson, 2008). In an important investigation, Dawson and colleagues (2012) found that 18-to 30-month-old children with ASD who received early intervention showed significantly greater improvement than com-parison children after intervention in their ASD symp-toms, IQ, language, and adaptive and social behaviors. In support of the hypothesis of altering the developing brain through early intervention, at 48 to 77 months of age, children who had received the early intervention also displayed more typical patterns of brain activation when viewing faces versus objects than did comparison children, and these brain changes were associated with improved social behavior. Nowadays, whenever pos-sible, intensive interventions for children with ASD begin before the age of 3—the earlier the intervention, the better the outcome is likely to be -Comprehensive early-intervention programs include many of the specific treatments for ASD that we have described (Harris, Handleman, & Jennett, 2005). Var-ious early-intervention programs are available, some based on a learning/behavioral model (e.g., Applied Behavior Analysis; Lovaas & Smith, 2003; Smith, 2011), others based on a structured teaching model (e.g., TEACCH; Mesibov, Shea, & Schopler, 2005; Virues-Ortega, Julio, & Pastor-Barriuso, 2013), and others based on developmental (e.g., Early Start Denver Model; Dawson et al., 2010) and/or relationship-focused (DIR or Floor Time; Greenspan & Wieder, 2006) approaches. These interventions are outcome driven and as a result have evolved dramatically since they were first introduced. Recently, there has been an initiative to integrate the behavioral and developmental models into a naturalistic behavioral developmental intervention that builds on and retains the best features of both approaches (Schreibman et al., 2015). Although these and other early intervention programs may differ in philosophy and emphasis, they share many common goals and features, which is why different models may result in similar outcomes when applied in standard-practice preschool or school settings (Kasari & Smith, 2013). There is a growing consensus that the most effec-tive interventions for children with ASD include the fol-lowing features -The average age of children with ASD entering early-intervention programs has been 3 to 4 years or younger. Early intervention provides direct one-to-one work with the child for 15 to 40 hours per week and active involve-ment of the family. In effect, these programs become a way of life for the family—24 hours a day, 7 days a week. Programs are carried out at home and in the preschool, and efforts are made to include the child in interactions with normal peers, especially later in treatment. -Comprehensive reviews of outcomes for children with ASD completing early-intervention programs find that many of them are able to function in regular educational placements, although the type of setting and amount of support services needed vary considerably. Most children also show developmental gains, as reflected in improve-ments in their social behavior and communication, IQ scores, and scores on developmental tests and as found on classroom observations ▶ Low Student-Teacher Ratio: Allow sufficient one-on-one time and small-group instruction to meet specific individualized goals. ▶ Early: Begin intervention as soon as an ASD diagno-sis is seriously considered. ▶ Intensive: Active engagement of the child at least 25 hours a week, 12 months a year, in systemati-cally planned, developmentally appropriate educa-tional activities with specific objectives. ▶ High Structure: Use predictable routines, visual ac-tivity schedules, and clear physical boundaries to minimize distractions. ▶ Family Inclusion: Include a family component, with parent training as indicated. ▶ Peer Interactions: Promote opportunities for inter-actions with typically developing peers. ▶ Generalization: Teach child to apply learned skills in new settings and situations and to maintain the use of these skills. ▶ Ongoing Assessment: Monitor child's progress and make adjustments in treatment as needed.

Are These Cognitive Deficits found in All Individuals with ASD?

-As we have noted, some individuals with ASD pass ToM tests. However, it is not yet clear whether indi-viduals with ASD who have normal IQs have actually developed a ToM. Studies of high-functioning school-aged children and adolescents with ASD suggest that they understand the theoretical principles of advanced mental state reasoning but do not apply them in everyday life situations -It seems unlikely that a single cognitive abnormality can explain all the deficits present in children with ASD, and a pluralistic approach is likely needed (Gallagher & Varga, 2015). The presence of multiple cognitive defi-cits, some specific and some general, may help us explain why ASD exists in so many forms and levels of severity. Finally, although we have discussed the general and spe-cific deficits in cognitive functioning in ASD individually, note that they are related to one another. For example, there is likely a link between the development of certain EFs and the emergence of children's ToM. -In addition to the cognitive deficits previously dis-cussed, another perspective is that children with ASD have an underlying impairment in social motivation—that is, they fail to find social stimuli intrinsically rewarding (Dawson et al., 2002). For example, most infants find the mutual exchange of positive emotions during social interactions involving eye-to-eye contact rewarding, and it motivates them to notice and attend to social and emotional cues. In contrast, infants who are later diagnosed with ASD initially show as much eye contact as infants who do not go on to develop ASD, but then show a decline in eye contact from 2 to 6 months of age (Jones & Klin, 2013). Children with ASD may fail to find eye-to-eye contact rewarding, or may find it aversive, and thus are less motivated and less likely to attend to social cues, extract meaning from others' emotional expressions, and participate in social exchanges. As a result, they have fewer opportunities to engage in behaviors essential for the development of social communication and language (Garcia-Perez, Hobson, & Lee, 2008; Hobson, 2002/2004). As one adolescent with ASD put it, "I still have to remind myself that there are people." Motivational theories remind us that the poor perspective-taking skills of children with ASD are not only manifestations of a cognitive deficit in their perspective-taking abilities, but may also reflect their disinclination to shift their perspective.

Cause: Neurobiological Findings

-Brain imaging studies have looked for structural and functional abnormalities in brain development or con-sistently localized brain lesions associated with the symptoms of ASD (Williams & Minshew, 2007). More recently, the focus has been on impairments of specific brain networks related to the deficits of children with ASD (e.g., processing information about self and others; Burrows, Laird, & Uddin, 2016). In terms of abnormal brain development, one longitudinal study examined brain growth at multiple points in time from ages 1.5 to 5 years in normal toddlers and toddlers who received a confirmed diagnosis of ASD at around 4 years of age. -The toddlers with ASD showed evidence of overgrowth of cerebral gray and white matter in all regions by age 2.5 years, around the time that their clinical symptoms began to appear. Almost all brain regions were found to develop at an abnormal rate -In terms of localized brain abnormalities, studies have consistently identified structural abnormalities in the cerebellum and in the medial temporal lobe and related limbic system structures (Bauman & Kemper, 2005; Courchesne et al., 2007). The cerebellum, a rel-atively large part of the brain located near the brain stem, is most frequently associated with motor move-ment. However, it is also partially involved in social cognition, modulating emotion, language, executive function, learning, thought, and attention (Hodge et al., 2010; Van Overwalle et al., 2014). Specific areas of the cerebellum are found to be significantly smaller than normal in young people with ASD, particularly in those with a higher level of functioning (Scott et al., 2009). It has been proposed that cerebellar abnormalities may underlie the problem that children with ASD have in rapidly shifting their attention from one stimulus to another -A second localized brain abnormality is in the medial temporal lobe and connected limbic system structures such as the amygdala and hippocampus (Groen et al., 2010; Johnson et al., 2013). These areas of the brain are associated with functions that are often disturbed in children with ASD—for example, learning, memory, and emotion regulation (Mazefsky et al., 2013). The amygdala plays an especially important role in rec-ognizing the emotional significance of stimuli, in ori-enting toward social stimuli, in the perception of eye gaze direction, and, along with the hippocampus, in long-term memory (Schulkin, 2007). Findings from brain scan studies suggest that there are both structural and functional abnormalities in the amygdala of those with ASD (Monk, 2008). For example, enlargement of the amygdala in toddlers with ASD is correlated with the severity of their social and communication impair-ments -Studies of brain metabolism in individuals with ASD suggest decreased blood flow in the frontal and temporal lobes. Studies have also found a decrease in the functional connections between cortical and sub-cortical regions and a delay in the maturation of the frontal cortex, as indicated by reduced cerebral blood flow in the frontal brain regions of preschool-age chil-dren with ASD -In relation to connections among specific brain regions and tracts (parts of the brain that carry signals from one brain region to another and allow communi-cation between the two hemispheres), abnormalities in the corpus callosum, frontal lobe cortex, amygdala, and other brain tracts have been found in young people with ASD (Dajani & Uddin, 2016; Kumar et al., 2010; Shen et al., 2016) and in their unaffected siblings (Barnea-Goraly et al., 2010). Recently, extensive and distinct connections between the cerebellum and the cerebral cortex with regard to the functions of understanding actions ("body reading") and mentalizing ("mind reading") have been established (Van Overwalle, D'aes, & Mariën, 2015). As we have discussed, both of these social-cognitive processes are impaired in children with ASD. Reductions in the area of the corpus callosum (the main fiber tract connecting the hemispheres) have been found in children with ASD, supporting the role of abnormalities in connectivity in the disorder (Ameis et al., 2016; Frazier & Hardan, 2009). Another study found significantly reduced interhemispheric connec-tivity specific to brain regions with functional relevance to ASD (Anderson et al., 2011). Similarly, preschool-age children with ASD were found to have disrupted functional connectivity between the amygdala and areas of the brain important for social communication and language, which may be clinically relevant because weaker connectivity was associated with increased autism severity (Shen et al., 2016). Postmortem studies of single axons in prefrontal regions of the brain have revealed a disconnection of long-distance brain path-ways, excessive connections between adjacent areas, and inefficiency in pathways for emotion, which may account for why individuals with ASD have difficulty in shifting attention, engage in repetitive behavior, and avoid social interactions -Atypical patterns of connectivity in the default mode network (DMN) have also been found in children with ASD (von dem Hagen et al., 2013). The DMN is a network of brain regions that are active when the individual is not focused on the external world and the brain is at wakeful rest—focusing on internal tasks such as daydreaming, thinking about the future, retrieving autobiographical memories, and assessing others' per-spectives. These findings are important, since the DMN includes brain regions (e.g., medial prefrontal cortex, medial temporal lobe) hypothesized to be involved in the higher-order social-cognitive processes that are impaired in children with ASD—for example, working memory, theory of mind, and integration of informa-tion

Course and Outcomes

-Children with ASD develop along different pathways (Szatmari et al., 2015). Some show abnormal behavior soon after birth; some, 25% or more, show seemingly normal development for the first year or longer followed by regression (the loss of previously acquired language and social skills, with an onset of ASD; Parr et al., 2011); while others appear to improve significantly over time (Fein et al., 2013). The symptoms of children with ASD change over time. Most symptoms gradually improve with age, even though children continue to experience many problems. During adolescence, some symptoms, such as hyperactivity, self-injury, and compulsivity, may worsen (Spector & Volkmar, 2006). During later adoles-cence and adulthood, abnormalities such as stereotyped motor movements, anxiety, and socially inappropriate behaviors are common, even in high-functioning individ-uals; these individuals also often experience loneliness, social disadvantage and exclusion, and work difficulties (Howlin, 2013). Complex obsessive-compulsive rituals may develop, and talking may be characterized by idio-syncratic and perseverative speech, monotonous tone, and self-talk -Findings from early studies of children with ASD who received limited help indicated that an over-whelming majority (70% or more) showed poor out-comes with limited progress and continuing handicaps that did not permit them to lead an independent exis-tence (Lotter, 1978). More recent follow-up studies report slightly better, but similar, outcomes (Eaves & Ho, 2008; Howlin et al., 2004; Howlin et al., 2013). Although some improvements in adaptive functioning and ASD-related behavioral symptoms occur with help, very few adults with ASD achieve high levels of inde-pendence. Most remain quite dependent on their family and other support services, with few friends and no permanent job (Bishop-Fitzpatrick et al., 2016; Roux et al., 2013). These adults continue to display problems in communication, stereotyped behaviors and inter-ests, and poor reading and spelling abilities. Overall, children with better language skills, higher intellectual ability, and higher scores on measures of reciprocal social interaction at the time of diagnosis show better long-term outcomes, but outcomes can be variable even for high-functioning individuals -It is possible that better long-term outcomes will be achieved by more recent generations of children with ASD who were diagnosed at a younger age, are higher-functioning, and received intensive early intervention. Longitudinal research will be needed before we know. Whatever the outcome, the reality is that children with ASD grow up, and most will continue to require age-appropriate supports and services. To date, far greater attention has been given to research, programs, and services for children with ASD than to adolescents and adults with ASD. Further efforts to address the needs of older individuals with ASD are sorely needed

General Deficits

-Children with ASD display a general deficit in higher-order planning and regulatory behaviors (Russell, 1997). These processes, called executive functions (EF), permit us to maintain effective problem solving by inhibiting inappropriate behaviors, engaging in thoughtful actions, sustaining task performance and self-monitoring, using feedback, and flexibly shifting from one task to another. This presence of a general deficit in EF in children with ASD is suggested by their difficulties in cognitive functions such as planning and organizing, changing to a new cognitive set, dis-engaging from salient stimuli, processing information in novel and unpredictable environments, and general-izing previously learned information to new situations (O'Hearn et al., 2008). There are many types of EFs, so it will be important to identify which deficits in EF are specific to individuals with ASD (Faja et al., 2016; Russo et al., 2007). For example, children with ASD display EF deficits that are more generalized and pro-found than those seen in ADHD; children with ASD share some deficits with children who have ADHD (e.g., vigilance, inhibitory) and have other deficits that are different (e.g., cognitive flexibility/switching; Cor-bett et al., 2009). Recent brain imaging findings also indicate that different types of childhood disorders are associated with both common and distinct deficits within the brain's executive system (Shanmugan et al., 2016). -Another general cognitive deficit hypothesized to underlie ASD is a weak drive for central coherence, which refers to the strong tendency of humans to interpret stimuli in a relatively global way that takes the broader context into account (Frith, 1993). By doing this, we can extract meaning from complex sets of information and remember the main points rather than the precise details. It has been proposed that individuals with ASD have a weak tendency for central coherence and tend to process information in bits and pieces rather than looking at the big picture (Happé & Frith, 2006). -Consistent with a general deficit in central coherence, individuals with ASD perform surprisingly well on tasks in which a focus on parts of a stimulus, rather than the overall pattern, serves to facilitate performance. Examples of one such task, the Embedded Figures Test, are shown in ● Figure 6.4. The advantage for individuals with ASD on this task may be caused by their spontaneous mental segmentation of the figures into unconnected and meaningless units (Brosnan, Gwilliam, & Walker, 2012). This happens to facilitate the identification of the figure embedded in the whole pattern, resulting in higher scores on this task -A deficit in ToM and weak central coherence in a child with ASD may also affect the generalized knowl-edge of what happens at everyday real-life events such as going on a field trip (Loth, Gomez, & Happé, 2008). These types of mental scripts are important tools in structuring the child's social experiences while accounting for the variability that surrounds real-life events, and may be impaired in children with ASD

Restrictive and Repetitive Behaviors

-Children with ASD display a wide variety of restricted and repetitive behaviors and narrow patterns of inter-ests and activities, such as a fascination with arith-metic, lining up toys, or insistence on driving the same route to school (Leekam, Prior, & Uljarevic, 2011). Restricted and repetitive behaviors are characterized by their high frequency, repetition in a fixed manner, and desire for sameness in the environment. Some chil-dren may perform stereotyped body movements, such as rocking or flapping their hands and arms, with such intensity that they begin to perspire; others may react explosively to a minor change in their routine; others may show a preoccupation with unusual objects, such as an electrical cord. They may show stereotyped and repetitive behaviors at times when they are not explic-itly directed to engage in another activity, suggesting a possible deficit in their ability to initiate activities on their own. Other stereotyped behaviors occur in unpre-dictable or demanding situations and may provide the child with a sense of control over the environment and a way to cope with changes that are not understood -The category of restricted and repetitive behav-iors was expanded in DSM-5 to include repetitive speech and idiosyncratic phrases that were previously identified in DSM-IV as deficits in communication. A common type of repetitive speech in children with ASD is echolalia, which is the child's parrot-like rep-etition of words or word combinations that she or he has heard, either immediately after hearing them, or at a later time. A child who is asked the question "Do you want a cookie?" responds by repeating, "Do you want a cookie?" Although echolalia was once thought to be pathological, it may actually be a critical first step in language acquisition for many children with ASD. Echolalia and other verbal behaviors, such as perse-verative speech—incessant talking about one topic and incessant questioning—may also serve a variety of communicative and developmental functions for chil-dren with ASD. These behaviors may reflect the child's desire to communicate, although in a very primitive way -Research has identified two dimensions of restricted repetitive behaviors in children with ASD: (1) "repeti-tive sensory and motor behaviors" (e.g., hand and body mannerisms, repetitive object use, and unusual sensory interests) and (2) "insistence on sameness behaviors" (e.g., compulsions and rituals, resistance to change). The frequency of the former remains relatively high over time, whereas the latter starts low and increases or worsens over time -Self-stimulatory behaviors are stereotyped as well as repetitive body movements or movements of objects. Hand flapping or pencil spinning are exam-ples. Although self-stimulatory and repetitive behav-iors also occur in typically developing children and children with other forms of neurodevelopmental dis-orders, they are more frequent and persistent in those with ASD (Leekam et al., 2011; Watt et al., 2008). A particular self-stimulatory behavior, such as moving the fingers in front of the eyes, may persist from child-hood through adulthood. In the accompanying photos of Pamela, taken 20 years apart, her self-stimulatory behavior looks amazingly similar. Self-stimulation may involve one or more of the senses, for example, staring at lights, rocking, or smelling objects. -The exact reasons why children with ASD engage in self-stimulatory and other repetitive behaviors are not known, although many theories have been advanced (Turner, 1999). One theory is that these children crave stimulation, and self-stimulation serves to excite their nervous system. Another theory is that their environ-ment may be too stimulating and that they engage in repetitive self-stimulation as a way of blocking out and controlling unwanted stimulation. Other theories profess that self-stimulation is maintained by the sen-sory reinforcement it provides, or that repetitive behav-iors provide a calming influence, a way of regulating extreme levels of emotion (Joosten, Bundy, & Ein-feld, 2009). Finally, restricted and repetitive behaviors may be linked to genetic disorders, such as fragile-X syndrome, that may co-occur with ASD (Moss et al., 2009). In the case of an individual child, any one of these reasons may apply -Atypical reactions to sensory input or unusual inter-ests in sensory aspects of the environment are included in the DSM-5 in the restrictive and repetitive behaviors category (Mandy, Charman, & Skuse, 2012). Many sights, sounds, smells, or textures that most children find normal can be confusing or even painful to children with ASD. A child with ASD may perceive and react to a specific person's voice as to a loud shriek, to a gentle stroke on the arm as to a sharp pain. Temple Grandin said that it wasn't that she didn't want contact with her mother but "the sensory overload of a hug shorted out my nervous system" (Grandin & Panek, 2013, p. 8). Such sensory overresponsivity involves a negative response to or avoidance of sensory stimuli. This response is accom-panied by overreactive brain responses in the primary sensory areas of the brain and areas related to affec-tive processing and regulation, including touch, and a failure to habituate to mildly aversive sensory stimuli (Green et al., 2013, 2015; Puts et al., 2017). A variety of sensory abnormalities are both common and persistent in children with ASD, with 90% or more having prob-lems in two or three sensory domains that continue well into adulthood (Green et al., 2016). These include over-sensitivities or undersensitivities to certain stimuli (e.g., unusual reactions to auditory stimulation), overselec-tive and impaired shifting of attention to sensory input, and impairments in mixing across sensory modalities—for example, an inability to simultaneously see the movement and hear the sound of a person's clapping

Problems in Early Development

-Children with ASD experience more health problems prenatally, at birth, or immediately following birth than do other children. Although not proven as independent risk factors, prenatal and neonatal complications such as preterm birth, bleeding during pregnancy, toxemia (blood poisoning), viral infection or exposure, a lack of vigor after birth, and others have been identified in a small percentage of children with ASD (Gardener, Spiegelman, & Buka, 2009; 2011). One study found that very preterm birth (gestational age of < 26 weeks) was associated with a much higher rate of ASD, with a preva-lence of 8% diagnosed by age 11 -Other risk factors that affect the prenatal environ-ment may place the fetus at increased risk for ASD. These include increased maternal and paternal age, in vitro fer-tilization, maternal use of prescription and nonprescrip-tion drugs, toxic chemicals in the environment during pregnancy, maternal fever during pregnancy, chronic hypertension, and pre-pregnancy obesity (Szatmari, 2011). During gestation, prenatal insults including maternal infection and subsequent immunological acti-vation may increase the risk of ASD, a finding that has stimulated interest in the role of the immune system in ASD more generally (Meltzer & Van de Water, 2017). With regard to parental age, a study of over 7 mil-lion children in California found that older mothers and fathers were more likely to have a child with ASD than were younger parents (Grether et al., 2009). An increase of 10 years in maternal age was associated with a 38% greater risk of ASD and that the same increase in paternal age was associated with a 22% greater risk. The relationship between increasing parental age and ASD suggests that age could be a contributing factor in the increase in ASD. New findings have also shown an increased risk for ASD in the children of younger mothers (< 20 years) and when there is a wider discrep-ancy in parental ages (Sandin et al., 2012; 2015). Taken together these parental age-related findings raise inter-esting questions about possible mechanisms including age-related gene variants, epigenetic dysfunction, shared genetic risk factors, and gene-environment interaction and correlation effects (Charman & Chakrabarti, 2016; Gratten et al., 2016). Exposure to antidepressant medi-cation (SSRIs) during the first trimester of pregnancy has also been found to increase the risk of ASD (Croen et al., 2011). Although problems during pregnancy and birth may not be the primary cause of ASD, they do sug-gest that fetal or neonatal development has been com-promised -A controversial and widely publicized proposal was that some cases of ASD in children who speak only a few words and have other social-communicative behaviors that disappear in the second year of life might be linked to vaccinations. Two hypotheses attracted the most attention. The first incriminated the measles components of combination vaccines for measles-mumps-rubella (MMR) (Wakefield et al., 1998; retracted February, 2010). The second lay blame on exposure to ethyl mer-cury (thimerosal), a preservative used in other vaccines (Ball, Ball, & Pratt, 2001). Both hypotheses claimed that the apparent ASD "epidemic" coincided with the intro-duction of MMR vaccines and/or increased exposure to thimerosal as a result of the increased number of rec-ommended childhood vaccinations in the first 3 years of life. Current scientific evidence does not support an association between MMR vaccines or thimerosal and ASD (Maglione et al., 2014; Mandy & Lai, 2016). Nev-ertheless, a large number of parents of children with ASD still believe that their child's disorder was caused by vaccinations

ASD Defining Features

-DSM-5 criteria for ASD are presented in Table 6.1. As shown, the core features of ASD are represented by two symptom domains: (1) social communication and interaction and (2) restricted, repetitive patterns of behavior, interests, or activities. These domains are well supported by research (Guthrie et al., 2013). To receive a diagnosis of ASD the child must display symptoms in both domains. The symptoms must also be persistent, occur in multiple settings, and be present early in development. Those who display only deficits in social communication and interaction but not restricted and repetitive behaviors should be evaluated for Social (Pragmatic) Communication Disorder, a newly des-ignated type of language disorder -Social Communication and Interaction. DSM-5 lists three symptom types in this category, with all three required for an ASD diagnosis: (1) deficits in social-emotional reciprocity; (2) deficits in nonverbal communication behaviors used for social interac-tion; and (3) deficits in developing, maintaining, and understanding relationships. Table 6.1 includes specific examples of symptoms for each type. -Restrictive and Repetitive Behaviors. Four types of symptoms are specified in this category, with at least two types required for an ASD diagnosis: (1) stereo-typed or repetitive motor movements, use of objects, or speech; (2) insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal behavior; (3) highly restricted, fixated interests that are abnormal in intensity or focus; and (4) hyperreactivity or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment. Table 6.1 includes examples of specific symptoms for each type. -DSM-5 also specifies that a severity rating of current symptoms be made for each domain. Severity ratings reflect the extent to which the symptoms interfere with the child's functioning. More severe deficits are rated as requiring greater levels of support, as follows: requiring support (level 1); requiring substantial support (level 2); and requiring very substantial support (level 3). Severity level ratings should help in guiding the types of programs and services needed to help the child and family, but since symptom severity may fluctuate across situations and over time, these ratings are not intended for use in deter-mining the child's eligibility for services. Research will be needed to assess the validity of the DSM-5 severity rat-ings in relation to their various uses in clinical practice, for example, specification of symptom severity, assessing the impact of symptom severity on functioning, deter-mining the level of needed supports, and support plan-ning -DSM-5 criteria for ASD provide a relatively new way of looking at autism. In light of this, we highlight several key changes in ASD criteria from DSM-IV to DSM-5 and why they were made. First, the DSM-5 organization of symptoms into two domains repre-sents a change from DSM-IV, in which deficits in social interaction and those in communication were viewed as separate domains along with the third domain of restricted and repetitive behavior. However, research does not support viewing social interaction and com-munication as distinct domains (Frazier et al., 2012), and clinicians have difficulty separating the symptoms of each. For example, is difficulty engaging in two-way conversation a deficit in social reciprocity or in com-munication skills? -Second, DSM-5 eliminated all previous subtypes of ASD (e.g., Autistic Disorder, Asperger's Disorder, and Pervasive Developmental Disorder, Not Otherwise Spec-ified [PDD-NOS]) and substituted a single overarching category—ASD. One reason for doing this was to increase the consistency of diagnosing ASD. In DSM-IV, the criteria for autism subtypes were not well conceptu-alized or defined. Although clinicians could readily dis-tinguish ASD from other neurodevelopmental disorders (e.g., intellectual disability, specific learning disorder), distinctions between subtypes were unreliable and incon-sistent and were related more to where the diagnosis was made, the child's level of intellectual ability, and co-occurring conditions, than to the child's ASD symptoms (Lord et al., 2012). A second reason for using a single ASD category rather than subtypes was a recognition that changes in developmental level can lead to changes in symptom presentation. Although an ASD diagnosis is stable after 2 years of age, children often changed diag-nosis from one subtype to another because of age-related changes in their social and cognitive skills (van Daalen et al., 2009). Thus, rather than representing true change, these age-and skill-related fluctuations in diagnosis are best viewed as variability within a single disorder. -The elimination of subtypes as separate disorders in DSM-5 does not mean that these distinctions are unimportant. As we have noted, ASD is not one thing, and there is a great deal of heterogeneity within the disorder. What is important is having a classification system that can address this variability (Rutter, 2013). To do this, DSM-5 includes the use of specifiers to indi-cate whether the child's ASD is associated with a known medical (e.g., epilepsy, very low birth weight) or genetic condition (e.g., fragile X syndrome, Rett syndrome, Down syndrome), and modifiers to indicate when other important conditions, such as intellectual and/or language impairment, are present and/or when ASD is associated with another neurodevelopmental, mental, or behavioral disorder (e.g., ADHD, anxiety disorder, depression). This provides a more detailed description of the full range, severity, and developmental trajectory of the child's problems, which is critical to developing an appropriate treatment plan -There is support for the conceptual validity of using a single ASD category. However, many individuals with ASD, their families, advocacy groups, and clinicians suggest that fewer individuals will be diagnosed, espe-cially those with milder symptoms and normal intel-lectual abilities who were previously diagnosed with Asperger's disorder. Therefore, the use of DSM-5 could result in reduced eligibility for services for these chil-dren. Although research to date suggests that most chil-dren diagnosed with Asperger's disorder will receive a diagnosis of ASD using DSM-5 criteria (Huerta et al., 2012; Kim et al., 2014), it is not yet known whether this will be the case in clinical practice. It has recently been found that children who meet criteria for a diagnosis of ASD in DSM-IV but not DSM-5 are generally less delayed on adaptive and communication skills, have less severe ASD symptoms, particularly on the restricted and repetitive behavior domain, and have fewer comorbid behavioral or emotional problems (Christiansz et al., 2016; Jashar et al., 2016). Thus, the issue of whether some children with fewer or less severe symptoms could be disadvantaged by changes in DSM-5 criteria in terms of eligibility for services will require further monitoring and evaluation

Prevalence

-For decades, ASD was thought to be a rare disorder, affecting about 1 per 2,500 children (Tanguay, 2000). However, recent findings worldwide indicate a much higher prevalence rate—as many as 1 per 68 children or between 1% and 2% (CDC, 2014; Elsabbagh et al., 2012). ASD affects over 2 million individuals in the United States and tens of millions more worldwide (Autism Speaks, 2013). In terms of economic burden, the total estimated annual societal costs of caring for children with ASD in the United States are $11.5 bil-lion or more (Ganz, 2007; Levelle et al., 2014). Health service utilization and costs for children with ASD are at least six times higher than for those without ASD and even higher for those with ASD and a co-occurring condition such as ID, ADHD, or epilepsy (Cummings et al., 2016; Peacock et al., 2013). Given the increasing prevalence and growing emphasis on early identifica-tion and intervention for children with ASD, it is likely that these costs will continue to rise. -Many causes for the apparent dramatic increase in ASD have been proposed—vaccines, mercury, diet, acet-aminophen, caffeine, antibiotics, allergies, environmental pollutants, and electromagnetic radiation—but to date none has been scientifically substantiated. It seems likely that most, if not all, of the rise in prevalence is caused by a greater awareness among parents and professionals; a broadening of the concept and its definition over the years; greater recognition and diagnosis of milder forms of ASD; changes in diagnostic criteria and categories; diagnostic substitution (i.e., the number of children receiving special education under other diagnostic cat-egories, primarily ID, speech impairment, and learning disabilities, has decreased as those diagnosed with ASD have increased); and better case-finding methods (King & Bearman, 2009; Wazana, Besnahan, & Kline, 2007). However, whether there is also a real increase in preva-lence due to an unidentified cause remains an open ques-tion. Interestingly, in contrast to scientific opinion that the increase in ASD prevalence is mainly due to changes in awareness and diagnostic practices, many laypeople continue to believe that the increase is due to increased exposure to new environmental, medical, and techno-logical hazards (e.g., vaccinations, cell phone towers; -ASD is found in all social classes and has been iden-tified worldwide. It is about four to five times more common in boys than in girls, a ratio that has remained fairly constant over the years, even with increasing prevalence estimates (CDC, 2014). The sex differ-ence is most apparent among children with IQs in the average to above-average range, perhaps being as high as 10:1 in higher-functioning individuals. However, among children with ASD and profound ID, the num-bers of boys and girls are similar. Thus, although girls are less often affected by ASD than are boys, when they are affected, they tend to have more severe intellectual impairments (Dworzynski et al., 2012). Girls with ASD who do not have an intellectual impairment are more likely to be formally diagnosed at a later age than boys (Lai et al., 2015). Girls with comparable high levels of ASD symptom severity as boys are also less likely to be diagnosed, suggesting that there is a bias in diag-nosis or that in the absence of co-occurring intellectual or behavioral deficits, girls may be better able to cope with the same level of ASD symptoms (Constantino & Charman, 2012). However, in one report, adult women with ASD who were not diagnosed until a later age described themselves growing up as "pretending to be normal" or "wearing a mask." They also reported expe-riencing conflicts between their ASD and a traditional female identity, and many had been sexually abused, in part due to specific vulnerabilities of being a female with undiagnosed ASD (Bargiela, Steward, & Mandy, 2016). In general, the clinical manifestations of ASD are quite similar for boys and girls, although there may be some differences in their cognitive profiles. For example, it has been found that girls with ASD engage in more pretend play than do boys, sug-gesting that impairment in pretense may be less of a problem for girls (Knickmeyer, Wheelwright, & Baron-Cohen, 2008). Findings also suggest neurobiological differences underlying ASD in males and females (Ecker et al., 2017; Lai et al., 2013b). For example, males but not females with ASD show reduced neural activation in key areas of the brain associated with mentalizing while processing social information -In considering the high ratio of males to females with ASD, Simon Baron-Cohen (2002; 2009) pro-posed the extreme male brain theory of ASD. Those with ASD are presumed to fall at the extreme high end of a continuum of cognitive abilities associated with systemizing (understanding the inanimate world) and at the extreme low end of abilities associated with empathizing (understanding our social world). Both abilities are present in all males and females, but males are presumed to show more systemizing and females more empathizing. Frequent interests and behaviors that occur among individuals with ASD (e.g., atten-tion to details, collecting, an interest in mathematics, mechanical knowledge, and scientific and technical information) are presumed to reflect an extreme on the systemizing dimension of the male brain, and a relative absence of empathizing (e.g., mindreading, empathy, eye contact, and communication; Baron-Cohen et al., 2003). The extreme male brain theory is intriguing but somewhat controversial. Further research into the neu-rocognitive aspects of these dimensions in individuals with ASD will be needed before we can infer that they are "from Mars and not Venus." -Rates of ASD are comparable across different racial and ethnic groups. Where differences are found, preva-lence is higher among non-Hispanic white children than among members of other groups, most likely because of under-identification in non-Hispanic black and Hispanic children (CDC, 2012a). Different racial and ethnic groups do not differ in core symptoms of or risk factors for ASD (CDC, 2012a; Cuccaro et al., 2007). However, African American children are nearly three times more likely than white children to receive another diagnosis such as ADHD or adjustment disorder before being diagnosed with ASD, and they are nearly three times more likely to experience delays in receiving inter-vention (Mandell et al., 2007). In general, children with ASD from culturally and linguistically diverse or eco-nomically vulnerable backgrounds are misdiagnosed more often and identified later than other groups, a situation that requires remediation (Barton et al., 2016). -Societies differ in how they integrate ASD into their cultural frameworks. For example, in contrast to viewing ASD as a disorder, some cultures view chil-dren with ASD as having special skills or as being more in touch with the spirit world. Cultural views range from those of the Navajo, who embrace their children with ASD as being blessed (Kapp, 2011), to the South Koreans, who may hide their children with ASD to protect siblings from being considered tainted and unmarriageable (Grinker, 2007). Despite these differing cultural views of children with ASD, elements of recip-rocal social interaction found in Western cultures occur widely throughout the world, and there is evidence that the diagnostic criteria used for ASD in Western cultures can be applied in other cultures

Treatment: Initial Stages

-Initially, treatment focuses on building rapport and teaching the child learning-readiness skills. Various procedures help the child feel comfortable being physi-cally close to the therapist and to identify rewards to strengthen the child's social behavior, affection, and play. Imitating the child's use of toys may increase eye contact, touching, and vocalizations directed toward the therapist. Prompting the child to engage in play with a preferred toy may decrease social avoidance. -Children with ASD must learn to sit in a chair, come when called, and attend to their teacher if they are to progress. These readiness skills are taught using two approaches. The first is a step-by-step approach to presenting a stimulus and requiring a specific response, referred to as discrete trial training. The second attempts to strengthen behavior by capitalizing on nat-urally occurring opportunities, referred to as incidental training. Most interventions use a combination of these approaches (Ghezzi, 2007), reflecting a more general trend in the field toward the use of increasingly natu-ralistic behavioral interventions through all stages of treatment

Intellectual Deficits and Strengths

-Intellectual disability (ID) is common in children with ASD and is a strong predictor of later functioning (Matson & Shoemaker, 2009). The intellectual ability of children with ASD varies widely, from profound dis-ability to superior ability. Those with superior abilities often capture media attention, yet, in reality, 70% of chil-dren with ASD have been estimated to have co-occurring ID. Approximately 40% have severe to profound ID, and 30% have mild to moderate ID. The remaining 30% have average intellectual ability or above (Fombonne, 2003, 2005). Estimates of ID in children with ASD are decreasing (Centers for Disease Control and Prevention [CDC], 2014; Charman et al., 2011), likely due to an increased use of ASD diagnoses with higher-functioning individuals and more children receiving early interven-tion -Assessing intellectual ability in children with ASD can be challenging, since intellectual tests often require skills such as language and imitation that may be limited in these children (Klinger, O'Kelley, & Mussey, 2009). Intelligence in children with ASD has typically been assessed using the Wechsler Intelligence Scale for Chil-dren (WISC; Mayes & Calhoun, 2008). Most children with ID without ASD show a general delay across all areas of intellectual functioning on this test. In contrast, the performance of children with ASD tends to be uneven across different WISC subtests. One common pattern is a relatively low score on verbal subtests such as compre-hension, and relatively high scores on nonverbal subtests involving short-term memory for strings of numbers or arranging blocks to form a specific pattern (Mouga et al., 2016). However, children with ASD do not show one distinctive IQ test profile (Charman et al., 2011). Children with ASD may also score higher on IQ tests that emphasize nonverbal abilities -Despite their intellectual deficits, a small but signifi-cant number of individuals with ASD develop splinter skills or islets of ability. Their special talents may be in spelling, reading, mathematics, music, or drawing. As many as 25% of children with ASD display a special cognitive skill that is above average for the general popu-lation and well above their own general level of intellect (Howlin et al., 2004). These special abilities are more strongly related to the restricted and repetitive character-istics of children with ASD than to their deficits in social interaction and communication -In addition, about 5% of children with ASD develop an isolated and often remarkable talent that far exceeds normally developing children of the same age. These children, referred to as autistic savants, display super-normal abilities in calculation, memory, jigsaw puzzles, music, or drawing (Treffert, 2010). One boy with ASD had an IQ of 60 but could recite the daily lottery num-bers for the past 5 years. Another boy learned to play the piano by reproducing any tune he heard. Psycholo-gists who studied this boy estimated that he had more than 2,000 tunes in his head (Gzowski, 1993, p. 91). Nadia, a girl with ASD, was obsessed with horses; she drew hundreds of pictures of them with incredible viv-idness and accuracy when she was only 3 years old. One of Nadia's drawings at age 5 is reproduced in ● Figure 6.3. After seeing a picture of a horse in a story, Nadia could generate endless images of what this horse would look like in any pose (Baron-Cohen & Bolton, 1993). Interestingly, Nadia did not retain her savant skills as she got older, suggesting that, for some, later developing higher-order cognitive skills may interfere with the types of processing that support their special abilities -It is not clear whether the special abilities of a few children with ASD reflect intact abilities or indicate a cognitive deficit. However, superior performance by children with ASD has typically been viewed as a side effect of abnormal brain functioning, rather than as a reflection of genuine intelligence. One idea is that autistic savants tend to segment information into parts rather than looking at the whole, which leads to exceptional performance in certain domains (Pring, Hermelin, & Heavey, 1995). Another explanation is that children with ASD think in images rather than in abstract ideas, which allows them to remember mate-rial in the manner of a camera or a recorder (Hurlbert, Happé, & Frith, 1994). Unfortunately, despite the fas-cination and appeal of the skills of autistic savants or the more common splinter skills, in most cases the skills are not used constructively to enhance everyday living.

Social Communication Deficits

-Most children have passed predictable milestones on the path to learning language by age 3; one of the ear-liest is babbling. By the first birthday, a typical toddler says words, turns when he hears his name, points when he wants a toy, and when offered something he does not like, makes it clear that the answer is "no." In con-trast, children with ASD display serious abnormalities in communication and language that appear early in their development and persist (Lazenby et al., 2016). Atypical early vocalizations are a sensitive indicator of a heightened risk for later ASD symptoms in infants with a family history of ASD (Paul et al., 2011). Even before children learn to talk, they have at their dis-posal a rich array of facial expressions, vocalizations, and gestures to communicate their needs, interests, and feelings. One of the first signs of language impair-ment is the inconsistent use of these early preverbal communications. For example, a child with ASD may point to a stuffed animal she wants that is out of reach. By doing this, she is demonstrating the ability to use protoimperative gestures—gestures or vocalizations that are used to express needs. However, this child will fail to use protodeclarative gestures—gestures or vocal-izations that direct the visual attention of other people to objects of shared interest. -The primary purpose of protodeclarative gestures is to engage other people in interaction; for example, a toddler excitedly points to a dog to direct her moth-er's attention to this fascinating creature that she sees. -The use of protodeclarative gestures requires shared social attention and an implicit understanding of what other people are thinking—abilities that are lacking in children with ASD. They are also missing other declarative gestures, for example, the showing ges-ture, which young children without ASD use to show someone else something of interest, such as a newly discovered object -Children with ASD who develop language usually do so before age 5. These children are more likely to display higher levels of cognition, joint attention, and maternal education than those who remain minimally verbal (Weismer & Kover, 2015). As many as 30% to 40% of all children with ASD do not develop useful language; this includes some children who begin to speak and then regress in their speech development, usually between 12 and 30 months of age. They may use no language, or have a small number of single words and fixed phrases that they use in specific situ-ations (e.g., to request a preferred toy at home; Kasari et al., 2013). Children with ASD with no speech or only limited speech rely on primitive forms of com-munication, such as pulling their mother's hand in a desired direction or bringing her a box to be opened. They may use instrumental gestures to get someone else to do something for them immediately, but they fail to use expressive gestures to convey feelings -Although almost all children with ASD show delays in their language development, it is their lack of spon-taneity and their use of qualitatively unusual forms of communication that is most striking (Chiang & Carter, 2008). The rhythm and intonation of their speech is often unusual (Peppe et al., 2007), but most noticeable is their lack of social chatter—their failure to use lan-guage for social communication. Parents and teachers of children with ASD describe their communications as nonsensical, silly, incoherent, and irrelevant, having little meaningful connection with the situation in which they occur. This is illustrated in the following inter-view with Jerry, a 5-year-old boy with ASD who has a great deal of expressive language -Language impairments in children with ASD occur at many levels including delays in expressive commu-nication, impaired comprehension, and odd utterances (Boucher, 2012). For example, pronoun reversal is a common language impairment in children with ASD which occurs when the child repeats personal pro-nouns exactly as heard, without changing them to suit the situation. For example, a child named Tim when asked, "What's your name?" answered, "Your name is Tim," rather than "My name is Tim." Although chil-dren with ASD experience problems with the compu-tational (sounds, words, and grammar) or the semantic (meaning) use of language these are not their primary problems. Rather, these children display profound impairments in pragmatics, which is the appropriate use of language in social and communicative contexts. An example of pragmatics (or, in this case the lack of it) is shown in ● Figure 6.2. The point of the ques-tion "Can you look at me?" is to request that an action be taken, not to request information about the child's ability to look at his mother. To understand this, a child must know more than what words mean—a child must "read" the context in which words are used. Lacking in pragmatic competence, children with ASD often have difficulty understanding nonliteral statements or adjusting their language to fit the situation -High-functioning children with ASD who have mas-tered word order and have large vocabularies may con-tinue to display impairments in pragmatics. In addition, they continue to show both nonverbal and verbal deficits that reflect a basic failure to recognize the thoughts, feel-ings, and intentions of other people. At a nonverbal level, their monotonic voice and lack of gestures suggest diffi-culty in communicating emotions. At a verbal level, they display problems with narrative discourse, including stories lacking in detail and difficulty providing suffi-cient information to others (Bottema-Beutel & White, 2016). As they get older, children with ASD make little use of language for social convention, for example, to greet others or to be polite. It has been suggested that the common element underlying all the communica-tion deficits in ASD is a general failure to understand that language can be used to inform and influence other people

Cause: Molecular Genetics

-New research using molecular genetics has pointed to particular areas on many different chromosomes as pos-sible locations for susceptibility genes for ASD (Klinger et al., 2014). Susceptibility genes are causally implicated in the susceptibility to ASD but do not cause it directly on their own. Although numerous searches for major ASD genes have been undertaken, they have not yielded consistent results (Burt, 2015; Krishnan et al., 2016). Inconsistent findings in gene studies may be due to the considerable etiologic heterogeneity within ASD and the diverse ways in which it appears. No single gene has been found to be relevant for most cases of ASD (Lord & Veenstra-VanderWeele, 2016). Rather than a single gene, ASD is associated with rare mutations that have a strong effect for a very small proportion of individuals with ASD who have such genes, and a few common variants (e.g., submicroscopic deletions or insertions of segments of DNA) of small effect in several genes that seem to be a factor for many cases of ASD (El-Fishawy & State, 2010; Gaugler et al., 2014). Moreover, the expression of ASD gene(s) may be influenced by environmental factors such as exposure to drugs or maternal illness, "a second hit" that occurs primarily during fetal brain development. The possible role of such gene-environment interactions (GxE) and also gene-environment correlations (rGEs) in ASD requires further study -Finally, there are a number of situations in which epigenetic dysregulation (changes in gene expres-sion caused by mechanisms other than changes in the underlying DNA sequence) may be associated with the development of ASD. For example, co-morbid genetic conditions such as fragile-X syndrome or genes or genomic regions exhibiting abnormal epigenetic regu-lation may be associated with ASD (Grafodatskaya et al., 2010). Thus, in searching for genetic alterations responsible for ASD, it may also be necessary to look beyond mutations and variations in specific genes into epigenetic regulation of gene function -It is likely that multiple types of genetic risk for ASD affect a range of behav-ioral and developmental traits, which at the extreme may result in a diagnosis of ASD or another neurode-velopmental disorder

Are These Cognitive Deficits Specific to ASD?

-Of the cognitive deficits that we have described, lack of ToM seems to be the one most specific to children with ASD as compared with children with ID or specific language deficits. Nonetheless, studies of ToM across a variety of other disorders, including schizophrenia, ADHD, and conduct problems, suggest that some of these children also have difficulties in accurately inter-preting other people's intentions (Sprung, 2010). How-ever, those with ASD are more likely to also display the abnormal neural processing associated with ToM -Deficits in processing social-emotional information appear to be less specific to ASD than are ToM deficits; the former occur in many other conditions, including schizophrenia and ID. There is even less diagnostic spec-ificity for executive functioning deficits, which occur in many other clinical groups of children, including those with ADHD and conduct disorder (Griffith et al., 1999). Further work is needed to determine whether the kinds of deficits in executive functioning in chil-dren with ASD differ from those in children with other problems

Treatment: Teaching Socially Appropriate Behavior

-Teaching appropriate social behavior is a high treatment priority (White, Keonig, & Scahill, 2007). Pairing people with whom the child has contact with actions, activi-ties, and events that the child finds pleasant or useful may increase the salience of social cues. Younger chil-dren are also taught ways to express affection through smiling, hugging, tickling, or kissing—behaviors that enable them to return the affection they receive from others. Other ways to enhance social interaction include teaching social toy play, social pretend play, and specific social skills such as initiating and maintaining interac-tions, taking turns and sharing, and including others in activities. Developmental and relationship approaches foster parental use of child-centered responsive interac-tions that embed numerous opportunities for teaching social and emotional behaviors in play. -Making friends is extremely difficult for children with ASD. Although parents and peers report that these children do make friends, their friendships are gener-ally of poorer quality than those of typically developing children (Mendelson, Gates, & Lerner, 2016). Parent-assisted Children's Friendship Training programs for school-age children with ASD target conversational skills, peer group entry skills, developing friendship networks, good sportsmanship, good host behavior during play dates, and handling teasing (Laugeson et al., 2012). Group social skills interventions have also been shown to improve social behaviors in high func-tioning children with ASD -One strategy for teaching appropriate social behavior to children with ASD involves teaching normal or mildly handicapped peers to interact with them. Peers are taught to initiate age-appropriate social behaviors such as playing with toys, commenting about activities, or acknowledging their partner's responses. Teachers may signal and reward the peers' social ini-tiations with the child with ASD. Other strategies use prompts and rewards for teaching the child with ASD to initiate interactions, and in some cases to involve siblings as trainers

Age at Onset

-The diagnosis of ASD is usually made in the preschool period or later. However, most parents of children with ASD become seriously concerned a year or more before a diagnosis is made, typically during the months preceding their child's second birthday (McConkey, Truesdale-Kennedy, & Cassidy, 2009). At this time, their child's lack of progress in language, imaginative play, and social rela-tions stands in sharp contrast to rapid developments in these areas by other children of the same age. Although deficits of ASD become increasingly noticeable around age 2, elements are most likely present and noticed ear-lier, as reflected in Anne-Marie's solemn reaction to her first birthday party -At present, the period from 12 to 18 months seems to be the earliest point in development at which ASD can be reliably detected. For example, an interesting study found that children with ASD generally did not show signs of the disorder at 6 months of age, but between 6 and 12 months they failed to gain new social skills or showed a loss of previously acquired ones (Ozonoff et al., 2010). Most children with ASD showed a subtle and gradual loss of specific social skills between 6 and 18 months that went unnoticed by parents. These find-ings suggest that traditional views that symptoms of ASD are present at birth or that the child shows dra-matic regression at a later age may not accurately depict how ASD develops. Instead, the onset of symp-toms may be more accurately represented as being on a continuum based on the amount and timing of loss of previously acquired skills (Ozonoff et al., 2009). Con-sistent with this view are findings that an early decline in eye contact over the first 6 months may precede the gradual loss of specific social skills that occurs from 6 to 12 months of age. Children who later developed ASD and typically developing children did not differ in eye contact in the first month of life, but for those who later developed ASD, eye contact gradually decreased over the first 6 months of life -Currently, diagnoses of ASD that are made between 18 and 36 months are stable for most children (Kim et al., 2016; Kleinman et al., 2008). However, many children at risk for ASD may not develop an ASD out-come until age 3 years or older, suggesting that ongoing monitoring is needed, even for those who do not meet full diagnostic criteria for ASD at a younger age (Ozonoff et al., 2015; Soto, Kiss, & Carter, 2016). With increasing research into key early behavioral indica-tors and genomic biomarkers, systematic screening and direct observation of infants at risk for ASD (e.g., those with older siblings with the disorder), and universal screening of young infants, it is likely that ASD can and will be reliably detected at earlier ages, particularly for those with low IQ (Oosterling et al., 2010; Pierce et al., 2011). Importantly, early detection and diagnosis has been found to increase the amount of intervention a child receives, and for some children, the quality of their parent-child interactions (Suma et al., 2016). Features of atypical development that are very similar to those found in ASD but are less severe, have recently been detected in infant siblings of children with ASD by the infants' first birthday (Ozonoff et al., 2014). Possible early indicators of ASD may include: "uses few gestures to express social interest," "doesn't respond when name is called," "rarely makes eye contact when interacting," "limited babbling, particularly in a social context," and "displays odd or repetitive ways of moving hands and/ or fingers" (Zwaigenbaum et al., 2009). Children with ASD have been found to differ from typically developing children on most of these indicators between the ages of 12 and 24 months. As part of its campaign to raise awareness about the importance of early identification for intervention, the American Academy of Pediatrics (AAP) recommended that all children be screened for ASD at 18 months and 24 months (Hampton, 2007). The Autism Navigator (www.autismnavigator.com) is a web-based resource where you can view fascinating video clips that show some of the early red flags for ASD as well as examples of commonly used treatments. -To date, efforts to implement early screening and diag-nosis of ASD in community settings and using online and telehealth technology have had positive results (McEwen et al., 2016; Smith et al., 2017). The extent to which these results have brought about reduced time to diagnosis and enrollment in services is not yet known

Cause: Chromosomal and Gene Disorder

-The discovery of the fragile-X anomaly (see Chapter 5) in about 2% to 3% of children with ASD led to increased attention to this and other chromosomal defects that might be related to ASD (Devlin & Scherer, 2012). In general, individuals with ASD have an ele-vated risk, about 5%, for chromosomal anomalies. However, these anomalies alone do not indicate the specific gene sites underlying the disorder, because ASD has been associated with anomalies involving several chromosomes -ASD is also associated with tuberous sclerosis, a rare single-gene disorder. The manifestations of this disorder can vary widely from mild to severe; they may include neural deficits, seizures, and learning disabili-ties. Most cases are derived from de novo mutations, cases in which no family history of the disorder existed (Bailey, Phillips, & Rutter, 1996). About 25% or more of children with tuberous sclerosis also have ASD. This makes the association between ASD and tuberous scle-rosis greater than that for any other genetically based condition. Recently, an increased rate of ASD traits has also been identified in patients with neurofibromatosis type 1 (NF1), a rare tumor syndrome that typically begins in childhood and is also caused by mutations in a single gene

Cause: Family and Twin Studies

-The individual risk of ASD increases with increasing genetic relatedness (Sandin et al., 2014). Some studies have found that as many as 15% to 20% of siblings of individuals with ASD also have the disorder (Ozonoff et al., 2011). Also, at 3 years of age, high-risk siblings who do not receive a diagnosis of ASD show greater severity of symptoms of ASD and lower levels of developmental functioning than do low-risk children (Messinger et al., 2013). Family members of children with ASD display higher-than-normal rates of social and language deficits and unusual personality features that are very similar to those found in ASD but are less severe (Gerdts et al., 2013). Referred to as the broader autism phenotype, these deficits include social oddities such as aloofness, lack of tact, and rigidity; pragmatic language problems such as over-communicativeness or under-communicativeness; and poor verbal comprehen-sion. Family members with the broader phenotype do not, however, display the atypical language (e.g., pro-noun reversal), extreme stereotyped repetitive behavior, or the ID and epilepsy that are often associated with a formal diagnosis of ASD (Rutter, 2000). These findings are consistent with a general family risk for ASD that is genetically mediated. In addition, a growing number of studies have reported similar neurophysiological cor-relates (e.g., atypical brain activation, reduced white matter) for children with ASD and their "unaffected siblings," suggesting a family susceptibility to ASD involving a wide array of brain regions and networks -Twin studies have reported concordance rates for ASD in identical twins ranging from 70% to 90%, in contrast to near-zero rates for fraternal twins (Rutter, 2005). These findings indicate that the heritability of an underlying liability for ASD may be extremely high and suggest that most of the variance in the expression and stability of ASD over time can be attributed to inher-ited genetic influences (Freitag et al., 2010; Holmboe et al., 2013). Accumulating evidence also points to the critical role of a variety of environmental influences on the emergence and subsequent developmental course of ASD (Mandy & Lai, 2016). In support of this, one study found that a large proportion of the variance in suscep-tibility to ASD could be explained by shared environ-mental experiences (58%), with heritability accounting for a smaller amount (38%) (Hallmayer et al., 2011). Thus, susceptibility to ASD may have a moderate genetic heritability component and a substantial shared twin environmental component. To date, the major focus of research on ASD has been on genetic influences, with minimal attention paid to environmental factors. The finding that shared environmental experiences have a significant influence on ASD susceptibility suggests that environmental risk factors occurring prior to or by the end of the first year of life could play an important role. Further research into problems in early development of the types discussed previously, such as low birth weight, multiple births, maternal infections during pregnancy, and parental age, may help advance our understanding of ASD

Deficits in Processing Social-Emotional Information

-The social and communication deficits of children with ASD have generated much interest in how they pro-cess social-emotional information, such as emotional expressions, voice and facial cues, and internal mental states. As we have discussed, their unusual social behavior suggests a significant impairment in their social sensitivities. Social interaction is not entirely absent or impaired, but rather they have great difficulty in situations that require social understanding. - at about 12 months, normally developing infants can tell when they and another person are attending to the same thing. They begin to recognize that people's actions are driven by desires and directed at goals. This ability contributes to the emergence of pre-tend, or "as if," play. Young children with ASD, however, don't understand pretense, nor do they engage in pretend play (Stanley & Konstantareas, 2007). For example, a normally developing child may give a doll a drink of water from an empty cup while making the appropriate slurping sounds, whereas a child with ASD may simply spin the cup repetitively. The deficits in spontaneous pre-tend play in young children with ASD led to the hypothesis that these children would also display impairments in their understanding of beliefs and desires or other mental states in themselves or others that cannot be seen directly. The development of such an awareness of mental states in themselves and others is referred to as mentalization or theory of mind (ToM) (Baron-Cohen, Tager-Flusberg, & Cohen, 2000). By age 4, most children can comprehend what others might know, think, and believe; this is something that even older individuals with ASD have great difficulty doing. The ToM hypothesis of ASD begins with the premise that the ability to read the intentions, beliefs, feelings, and desires of others from their external behavior has adaptive significance in human evolution. ToM proposes that all humans are, by nature, mind readers. We spend our waking lives reading subtle cues that enable us to fill in the blanks about other people's beliefs and intentions. We do this automatically and with little conscious effort. -It has been proposed that many of the primary prob-lems of individuals with ASD stem from or relate to a deficit in their ToM mechanism. In other words, children with ASD suffer in varying degrees from "mindblind-ness"; that is, "they fail to develop the capacity to min-dread in the normal way" (Baron-Cohen, 1995, p. 5). Interestingly, when asked what brains do, most 5-year-olds say that brains are for thinking, dreaming, keeping secrets, and so on. But when children with ASD are asked this question, they may say that the brain is what makes people move—expressing nothing about mental activity (Baron-Cohen, 1995). A child with ToM deficits may be able to learn, remember, and know things about the social world but has little understanding of their meaning. The original test used to determine children's ability to detect mental states of others was called the Sally-Anne Test. A similar test is described in A Closer Look 6.3. This test, which is extremely simple, illus-trates what it means to have an everyday ToM. -A small but significant number of children with ASD (estimates range widely, from 15% to 60%) dem-onstrate some knowledge of ToM—they pass the Sally-Anne Test or tests like it. In contrast to the children with ASD who do not pass false-belief tests, children with ASD who pass the tests display insightful and interac-tive behavior and have better verbal and communica-tion abilities (Frith & Happé, 1994). They also display far more verbal ability than other children of the same chronological age, suggesting that they may work out ToM tasks in a conscious and logical way (Happé, 1995a, 1995b). All children who succeed at ToM tasks, including children with ASD, usually understand meta-phors, irony, and a range of speaker emotions, such as the intention to lie or tell a joke. However, young people with ASD who understand a false belief give laborious explanations for their insights, suggesting the use of conscious and deliberate strategies to discern mental states. In contrast, understanding a false belief may be so natural, automatic, and unconscious for most chil-dren that they may have difficulty explaining how they come up with their answer -Brain scan studies suggest that the ability to men-talize is associated with a specific region of the brain that is connected to a widespread network of brain regions involved in social cognition (van Veluw & Chance, 2013). Regarding the difficulties displayed by children with ASD, these findings may have implications for understanding the neural basis of ASD, which we will return to in a later section. Although specific social-emotional cogni-tive deficits, as in ToM, are very common in children with ASD, the fact that they do not occur in all of these children suggests that mechanisms other than ToM are needed to explain the cognitive deficits in autism.

Treatment of ASD

-These two sentiments—the first by the mother of a child with ASD, the second by an ASD expert—under-score the promise, pain, and uncertainty that surround efforts to help children with ASD and their families. Parents of children with ASD report having tried, on average, seven to nine different therapies for their child, and are currently using four to six (Goin-Kochel, Myers, & Mackintosh, 2007). It has been estimated that about 400 different treatments are being used by individuals with ASD (Interactive Autism Network, 2011). The fact that no one treatment has been suc-cessful in eliminating the core symptoms of ASD makes many parents vulnerable to new claims of dramatic improvements. This is especially true for a dizzying array of widely publicized treatments such as vitamins, nutritional supplements, special diets (e.g., gluten-and casein-free diets), medications (e.g., antipsychotics, stimulants, antidepressants), hyperbaric oxygen therapy (sealing the child in a pressurized oxygen chamber), chelation therapy (removal of heavy metals from the body), weighted vests (to provide "calming" stimulation), secretin (a hormone that controls diges-tion), intranasal oxytocin (a neuropeptide identified as a modulator of social behavior), immunotherapy (use of substances that target a variety of hypothesized but as yet unproven immune system abnormalities), auditory training, music therapy, dance/movement therapy, repetitive transcranial magnetic stimulation (stimulating key motor cortical sites to improve motor activity), sensory integration, facilitated communica-tion, equine-assisted therapy, use of trained service dogs, and even swimming with dolphins (Schreck, Russell, & Vargas, 2013). Unfortunately, most of these treatments have not lived up to their claims under close scientific scrutiny, and some may have harmful effects -Although behavioral, educational, and medical treatments may improve learning and behavior, and may permit a few children to achieve near-normal func-tioning, there is no known cure for ASD. The goals for most treatments are to minimize the core problems of ASD, maximize the child's independence and quality of life, and help the child and family cope more effec-tively with the disorder. These goals can be facilitated by treatments designed to enhance development and learning, to reduce associated maladaptive behaviors, and to educate and support parents in meeting these goals (Myers, Johnson, and the Council on Children with Disabilities, 2007). Understanding parents' beliefs about the causes of their child's ASD is important for treatment -Promising new programs of early intervention, community-based education, and community living options are all reasons for optimism about improving outcomes for children with ASD (Rogers & Wallace, 2011; Volkmar et al., 2014). The most benefit is likely to come from developmentally oriented, early behav-ioral interventions that involve parents and that are used along with special educational methods (Rutter, 2006b). Most children treated using these newer evi-dence-based methods show significant gains in lan-guage, social communication, and measured IQ and a modest reduction in the severity of the core symptoms of ASD (Smith & Iadarola, 2015; Wong et al., 2015). However, questions remain concerning how intensive the interventions need to be (e.g., 20 vs. 40 hours per week), how much change can be achieved, and the extent to which changes can be directly attributed to the intervention. Additional controlled studies are needed before long-term outcomes can be fully assessed

extreme male brain theory

A genetic hypothesis for autism spectrum disorders; highlights the role of evolutionary sex-linked dimensions of brain functioning (such as the logical, systematic thinking characteristic of men and the relational empathy characteristic of women) and proposes that autism spectrum disorders may be an extreme example of the "normal" male profile.

Autism Spectrum Disorder (ASD)

-a disorder that appears in childhood and is marked by significant deficiencies in communication and social interaction, and by rigidly fixated interests and repetitive behaviors -a complex neurodevelopmental disorder characterized by abnormalities in social communica-tion and unusual behaviors and interests. ASD touches every aspect of the child's interaction with his or her world, involves many parts of the brain, and under-mines the traits that make us human—our social responsiveness, ability to communicate, and feelings for other people.

deficit in social communication and social interaction

-social-emotional reciprocity -nonverbal communication behaviors -developing, maintaining, understanding relationships

Progression of ASD

-some show stable low functioning/ maladaptiveness from birth -some start to regress in functioning during adolescence and adulthood (co-insides with Anti-vax movement) -kids with better language skills, higher intellectual ability, and better reciprocal social interaction at diagnosis show better long-term outcome

Rates of ASD

-thought of as being rare 1/2500 and has now been realized to be 1/68 - boys 5x more diagnosed; girls have higher intellectual deficiencies (Extreme Male Brain Theory) possibly due to: -vaccines -mercury -diet -acetaminophen -caffeine -antibiotics -allergies -pollutants -electromagnetic radiation REALLY DUE TO: -greater awareness/recognition/diagnosis -broadening of concept -changes in diagnostic criteria/categories -diagnostic substitutionb

Age of Onset of ASD

-typically diagnosed in pre-k -parents usually concerned a few years before this; usually a couple months before the first birthday

Cause: ASD as a Disorder of Risk and Adaptation

Based on the causal factors we have discussed, a model of risk and adaptation is needed to understand how ASD develops. Genetic and environmental factors lead to abnormalities in brain development, which in turn lead to generalized disturbances in how the child processes information and interacts with his or her environment (Faja & Dawson, 2017). These disturbances are likely to disrupt critical input affecting brain development during early periods of sensitivity (Dawson et al., 2002). There-fore, the relationship between the child's early risk for ASD and later outcomes will be mediated by alterations in how the child interacts with and adapts to his or her environment. For example, Wan et al. (2013) found that the quality of interaction between infants at risk for ASD and their caregivers at 12 to 15 months correlated with an ASD diagnosis at age 3 years. Depending on the inter-action between early risk factors and the environment in which the child develops, different children will follow different developmental pathways. Although pathways may change at any point in development, the longer the child is on a maladaptive pathway, the more difficult it is for change to occur. Thus, as we discuss in the next section on treatment, the earlier the risk for ASD can be identified and the sooner intervention begins, the greater the likelihood that the child will have a better outcome.

The Refrigerator Mother Theory

Each child waseventually determined to be on the autism spectrum—and each of their mothers was thought to be part of the reason they had the condition. Between the 1940s and 1960s, mothers of children with autism were dubbed "refrigerator mothers" and characterized as cold, neglectful, and even abusive

Treatment Overviews

Emilie's case captures the demands, frustrations, aspira-tions, and hopes of a family trying to do the best possible for their child with ASD. A number of treatments are available for helping children with ASD, such as Emilie, and their families. These treatments focus on the spe-cific social, communication, behavioral, and cognitive deficits of ASD that we have discussed throughout this chapter. They include strategies for engaging children and families in treatment; decreasing disruptive behav-iors; teaching appropriate social behavior with adults and peers, including joint attention, imitation, and recip-rocal interaction; increasing functional, spontaneous communication; promoting cognitive skills such as sym-bolic play and perspective taking; and teaching adaptive skills that prepare the child for increased responsibility and independence. Family interventions enable parents to participate fully in their child's treatment and to cope with the substantial demands and parenting-related stress associated with raising a child with ASD, including the stereotyping, rejection, and exclusion that often accompany ASD (Estes et al., 2014; Kinnear et al., 2016; Rivard et al., 2014). In addition, educational interven-tions and speech and language therapy are commonly used. Also, for some children, antipsychotic medications (e.g., risperidone, aripiprazole) may help decrease inter-fering and challenging behaviors and symptoms such as irritability, severe tantrum behavior, physical aggression, and repetitive behaviors (Volkmar et al., 2014), particu-larly when they are combined with intensive behavioral intervention (Arnold et al., 2012; Frazier et al., 2010). However, the effectiveness of these medications must be balanced against their known adverse effects, such as weight gain or liability to cause metabolic disorders (McPheeters et al., 2011). Because children with ASD have great difficulty making changes and generalizing previously learned skills to new environments, these areas must be directly addressed in treatment. It is also critical that treatment be tailored to meet the needs of the individual child and the family, thus making it pos-sible for each child to meet his or her full potential. Indi-vidualized treatments must target both ASD symptom severity and adaptive functioning, as improvement in one area does not guarantee improvement in the other (Scahill et al., 2016; Szatmari et al., 2015). In the following paragraphs we highlight how sev-eral of the treatment components mentioned above are implemented.

Medications

Many children with ASD receive psychotropic medica-tion, most commonly antipsychotics, antidepressants, and stimulants (Downs et al., 2016). As with many of the other childhood disorders we discuss, medication use for children with ASD has also increased, and many of these children receive multiple medications (Spencer et al., 2013). Although certain medications may help in alleviating specific behavioral symptoms of ASD (e.g., irritability, aggressive behavior, self-injurious behavior, obsessive compulsive symptoms) and associated comorbid disorders, their benefits are limited, variable from child to child, and do not alter the core deficits of children with ASD (McCracken, 2011). Given the potential harm of both overuse and underuse and the limited evidence of the effectiveness of medications, particularly for very young children, it is crucial that their risks, benefits, and costs be carefully evaluated

Treatment: Executive Function Intervention

One such school-based program, Unstuck and On Target (UOT), uses cognitive-behavioral strategies to reduce insistence on sameness and to teach flexibility, goal-setting, and planning (Kenworthy et al., 2013). A controlled study compared third-and fifth-graders with ASD and average or above-average intellectual ability who received the UOT intervention with a comparable group of children with ASD who received social skills training. After intervention, children in both groups improved, but those receiving UOT showed signifi-cantly greater improvement in their problem-solving, flexibility, and planning/organizing skills. When observed in their classroom, children who had received UOT were better able to follow rules, make transitions, and be more flexible (Kenworthy et al., 2013). Both groups made equivalent gains in social skills. These findings are promising in showing that children with ASD with average or above-average intellectual ability can learn higher-level cognitive skills and apply them in a mainstream classroom. Since prior executive func-tioning deficits have been shown to predict poorer later daily living skills and socialization in children with ASD, treating executive deficits at a young age may also improve outcomes in important adaptive behav-iors

Accompanying Disorders and Symptoms

Over 90% of individuals with ASD have a co-occurring disorder, and as many as 50% have four or more co-occurring disorders (Lundström et al., 2015). The disorders that most often accompany ASD are ID and epilepsy (Besag et al., 2016), anxiety disorders (Salazar et al., 2015), ADHD (Hanson et al., 2013), learning disabilities, oppositional and conduct prob-lems (Guttmann-Steinmetz et al., 2009), and mood disturbances (Gotham, Brunwasser, & Lord, 2015). Some children with ASD also engage in extreme, per-sistent, and sometimes potentially life-threatening, self-injurious behavior (SIB)—any self-inflicted behavior that can cause tissue damage to the child's own body (see Chapter 5). The most common forms of SIB are head banging, hand or arm biting, and excessive scratching and rubbing. Head banging, if not prevented, can be severe enough to produce bleeding or even brain injury. SIB may occur for a variety of reasons—self-stimulation, to gain attention, or to eliminate unwanted demands—or it may occur for no apparent reason (Oliver & Rich-ards, 2015). Whatever the reasons, rates of emergency/ hospital treatment for self-inflicted injuries in children with ASD are five times greater than for typically devel-oping children (Kalb et al., 2016). However, SIB may not occur more frequently in young children with ASD than in those with other forms of developmental delay. Intellectual disability, atypical sensory processing, need for sameness, repetitive behaviors, and impulsivity are among the strongest risk factors for SIB in children with ASD

Treatment: Teaching Appropriate Communication Skills

Several strategies are used to help children with ASD communicate more appropriately. Operant speech training is a step-by-step approach that first increases the child's vocalizations and then teaches imitation of sounds and words, the meanings of words, labeling objects, making verbal requests, and expressing desires. The emphasis is on teaching the child to use language more spontaneously and more functionally in everyday life situations to influence others and to communi-cate better (Newsom & Hovanitz, 2006). These and other early interventions have been shown to improve spoken language outcomes for children with ASD, with the largest effects when both parent and clinician are actively involved (Hampton & Kaiser, 2016). A more comprehensive approach based on a developmental model has used a naturalistic play and engagement-based communication intervention that focuses on joint attention, symbolic play, engagement, and regula-tion (JASPER; Kasari et al., 2008). This approach has been effective in improving social communication out-comes (e.g., initiating joint attention, play diversity) and behavioral spoken language (e.g., spontaneous commu-nication, novel words) in preverbal children with ASD. Adding a speech-generating device (SGD; off-the-shelf tablet with communication software) to this interven-tion shows initial promise for enhancing outcomes (Almirall et al., 2016; Kasari et al., 2014). A variety of other interactive technologies (e.g., social robotics, touch screen devices) are currently being developed for teaching children with ASD social communication and other skills

Treatment: Reducing Disruptive Behavior

Young children with ASD display many disruptive and interfering behaviors, such as tantrums or throwing objects, as well as self-stimulation, aggression, and self-injury. These behaviors are common reactions to demands on the child that are made early in treatment, and they must be eliminated if the child is to learn more adaptive forms of social interaction and communication. Many procedures are effective in eliminating disruptive behavior, including rewarding competing behaviors, ignoring the behavior, and mild forms of punishment.

Social Interaction Deficits

▶ a lack of monitoring of the social activities of others; ▶ a lack of social and emotional reciprocity; ▶ unusual nonverbal behaviors such as using atypical facial expressions, eye-to-eye gaze, body postures, and gestures to regulate social interaction; ▶ lack of interest and/or difficulty relating to others, especially other children; and ▶ a failure to share enjoyment and interests with others. -Children with ASD experience profound difficulties in relating to other people, even when they have average or above-average intelligence (Pelphrey et al., 2011). From a young age, they show deficits in many skills that are crucial for early social development. -Children with ASD have limited social expressive-ness and sensitivity to social cues, impaired recognition of complex emotions and mental states in everyday life, and experience little sharing of experiences or emotions with other people. These children have great difficulty integrating the social, communicative, and emotional behaviors that are required when greeting a familiar person. Their lack of understanding of people as social partners may lead to their treating people as objects, or to directing their actions at the body parts of other people, as when the child attacks a restraining hand rather than the person. -Children with ASD display atypical processing of faces and facial expressions (Dawson, Webb, & McPartland, 2005). In processing information about the human face, they may overemphasize one part of the face, such as the mouth, rather than attending to its overall shape or focusing on the eyes as most children do. The child's focus on the mouth rather than the eyes seems to be the result of an avoidance of the eyes rather than a preference for looking at the mouth (Tanaka & Sung, 2016). Children with ASD also display deficits in recognizing facial expressions of emotion, particu-larly in detecting fear. This may be because the iden-tification of fear relies more heavily on the eye region than does other emotions, and individuals with ASD avoid looking at and extracting information from the eye region because it is perceived as socially threatening (Song, Hakoda, & Sang, 2016). Notably, children with ASD have been found to make more eye contact with a social robot than with a human when interacting during a play task (Simut et al., 2016). For these children, direct eye contact with people may produce a heightened physiological reaction as indicated by increased skin conductance and brain activity in regions of the brain (i.e., amygdala) associated with fear (Tanaka & Sung, 2016). Atypical face processing in individuals with ASD may be related to their having a less generalized or nar-rower neural network for face detection, which may also contribute to their reduced social interest -they display face processing behavior that is comparable to typically developing controls, high functioning ado-lescents with ASD show under-activation in their face processing neural network when viewing unfamiliar human, but not unfamiliar animal, faces. This finding suggests abnormalities in their ability to recognize the reward value of other people -Children with ASD display impairments in joint attention, which is the ability to coordinate attention to a social partner and an object or event of mutual interest (Mundy & Newell, 2007). Joint attention, which typically emerges between 9 and 14 months of age, involves making a social connection with another person by directing that person's attention to objects or people by pointing, showing, and looking, and by communicating shared interest. Although children with ASD may bring an object to a person or point to an object when they want something done for them, they show little desire to share interest and attention with another person for the sheer pleasure of interaction. Poor quality of eye contact and smiling during parent-infant interactions in the first year of life predict deficits in joint attention in the second year of life (Clifford & Dissanayake, 2008). In turn, deficits in joint attention impede language development in infants with ASD at 20 months and predict language, communication, and social problems at age 42 months -Although it was once thought that children with ASD failed to form a social bond with their parents or that they could not tell the difference between their par-ents and other adults, research has proved this wrong (Rutgers et al., 2004). Most children with ASD are more responsive to their caregivers than to unfamiliar adults, directing more social behavior and seeking to be closer to them than to strangers after a brief separa-tion (Dissanayake & Sigman, 2000). In addition, once the children's disoriented and disorganized repetitive motor behaviors are taken into account, children with ASD display slightly lower—but comparable—rates of secure attachment to their mothers than normal con-trols. When lower rates of secure attachment are found, it is usually in children with lower intellectual ability and greater ASD severity (Naber et al., 2008). Most show a preference for their mother over a stranger, use their mother as a secure base for exploration, and are comforted by their mother when distressed. Impor-tantly, the quality of infant-mother attachment in young children with ASD contributes substantially to the development of the child's play behavior, which is important for the development of social skills -seems to be in their ability to understand and respond to social information (Rogers, Ozonoff, & Maslin-Cole, 1993). As shown in A Closer Look 6.1, a child with ASD will likely notice when his mother leaves the room and will look for her—both actions being signs of attachment. However, unlike a typically developing child, he may have little understanding of the event or how to respond to change the situation, making it seem as if he has no attachment. Thus, although children with ASD are attached to their parents, the way they express attachment is unusual and difficult to "read." As a result, parents may feel that their child is not attached at all, and may feel disheartened by the child's lack of the cuddling, reaching, and responsiveness that typically accompany attachment behavior. -In addition to their social difficulties, children with ASD have difficulty processing emotional information contained in body language, gestures, facial expres-sions, or the voice. Preschool-age children with ASD do not look for or attend to the emotional cues provided by other people. In contrast to other children of the same mental age, they may sort pictures of people according to the type of hat a person is wearing rather than by emotional expressions (Weeks & Hobson, 1987). Children with ASD also have difficulties in under-standing emotional information, and their own bodily expressions of emotion—often characterized by limited spontaneous use of expressive gestures and bizarre, rigid, or mechanical facial expressions—are very dif-ferent from those of typical children (Trevarthen & Delafield-Butt, 2013). They also have difficulties in rec-ognizing emotions from the body movements of others (Atkinson, 2009; Edey et al., 2016). Thus, children with ASD both process and express emotional information in unusual ways.