Objective: Overview of the diagnosis of Autism Spectrum Disorder (ASD)
Autism Spectrum Disorder (ASD) is an early-onset, persistent neurodevelopmental disorder characterized by communication processing issues, social difficulties and behavioral and motor challenges which impair or limit everyday functioning (APA, 2013a). People with ASD frequently misread verbal and non-verbal interactions and respond inappropriately in conversations and social situations. Additionally, they are often inflexible, struggle with changes in routine, display repetitive behaviour and have significant trouble forming and maintaining friendships. Symptoms of ASD vary in severity and range along a continuum from mild to severe expression (APA, 2013a; APA, 2103b). ASD begins in infancy or early childhood, however, the associated difficulties may be masked by characteristics of the individual, environmental supports, therapeutic interventions and developmental level. This means that deficits, behavioral patterns and functional limitations are usually not recognized until a child becomes unable to meet important life stage demands (APA, 2013a).
Autism Spectrum Disorder (ASD) in the DSM 5 brings a number of separate DSM - IV disorders together and places them under a single umbrella diagnosis which maintains the sensitivity of previous criteria. Most individuals diagnosed under DSM- IV criteria as having an autistic disorder, Asperger’s disorder, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified, will continue to meet the criteria for ASD (or another disorder) in the DSM 5 (APA, 2013b; Lauritsen, 2013). This spectrum diagnosis permits diagnosis at both earlier and later life stages, improves accuracy of diagnosis and allows clinicians to account for variations in symptoms and severity among individuals (APA, 2013b). Although the ASD diagnosis is not expected to substantially change the number of children who are diagnosed, it will be some time before the actual effect of these changes on prevalence rates and other facets of assessment can be completely determined (Volkmar et al., 2014).
History of ASD
Scholars suggest that traces of what we now call autism have been described throughout history, in legends and accounts of feral children, eccentric individuals, religious figures and even fictional characters (Holaday, 2012; Verhoeff, 2013; Wing, 1997). The word “autism” was first used by psychiatrist Eugen Bleuler, just over a century ago, to describe the way in which individuals with schizophrenia withdrew from the external world into one’s self. Over the next decade the use of the term was
expanded to include non-pathological escapes from reality or “autistic thinking” such as daydreaming or fantasizing (Holaday, 2012; Verhoeff, 2013).
There were a number of individuals who worked and studied in this field during the 1930s and 1940s. Of these, only Leo Kanner and Hans Asperger, who provided vivid descriptions of the affected children and adolescents, rose to prominence (Wing, 1997). Between 1938 and 1943, Kanner observed a subset of children who he referred to as having “early infantile autism.” He described children with repetitive behaviour who were highly resistant to changes in routine, socially aloof and indifferent and who had absent or idiosyncratic speech. Despite general delays in learning, they had isolated functional capabilities, excelled at rote memory tasks and/or showed strong visuo-spatial skills (Holaday, 2012; Wing, 1997). At the same time, Hans Asperger became well-known for describing a similar group of older children and adolescents. These individuals had normal speech capabilities but poor intonation and non-verbal skills, were inappropriate in social interactions, absorbed by their own interests, frequently had poor motor skills and had specified learning problems, despite normal or superior intellect (Holaday, 2012; Wing, 1997). Despite overlapping symptoms and common characteristics, Kanner and Asperger each believed that the syndromes they described were separate and unique (Wing, 1997). Kanner, who was strongly influenced by psychoanalytic theory, asserted that autism was primarily due to having parents (especially mothers) who were
detached, cold, rigid and perfectionistic. He coined the term “refrigerator mother” which along with his ideas, was readily adopted by psychiatrists, psychologists and other professionals of the time (Holaday, 2012).
Beginning in the 1950s, one of the leading adherents and promoters of the “refrigerator mother” theory was Dr. Bruno Bettelheim, a professor and child-development specialist who focused his work and study on the treatment of autistic children. His influence was significant and far-reaching and the idea that autism was the result of cruel and
neglectful mothers became entrenched in professional circles and in popular culture (Holaday, 2012). This theory remained prominent throughout the 1950s, 1960s and 1970s and fell into disfavour only when twin studies suggested that autism was related to genetics and variances in brain development. Researchers and clinicians proposed that autism could be a genetically-inherited personality trait that was present to a milder extent in parents and that the stilted interaction between parents and children with autism might be a reaction to, rather than the cause of, the child's behavior (Wing, 1996).
From the mid-twentieth century until 1980, “autism” was considered to be a form of early-onset psychosis and the term was only used to describe individuals who were severely affected by symptoms. In 1980, with the publication of the DSM III, autism was officially recognized as a disorder and the connection between autism and schizophrenia was removed. The DSM III also allowed for less severe forms of the disorder and
and expression of symptoms have been discovered and research has revealed the causal diversity and complexity of the disorder (Johnson et al., 2013; Walsh, Elsabbagh, Bolton & Singh, 2011). On the basis of new understandings, with the publication of the DSM 5 in 2013, autism has been reclassified as a neurodevelopmental spectrum disorder (APA, 2013; Verhoeff, 2013).
Prevalence of ASD
Since the first epidemiologic studies in the late 1960s and early 1970s, the prevalence of autism has increased dramatically. Initially, European studies estimated that
approximately one in 2,500 children in the population were affected by ASD, while recent studies, suggest that ASD affects as many as 1% - 2% of children globally (APA, 2013a; Baio, 2014). Current research in North America, estimates that ASD affects one in every 68 children aged 8 years. This new estimate is 120% higher than the estimates from the early 2000s (Baio, 2014). The reasons for changes in prevalence are unclear; while they may reflect actual increases in prevalence, studies suggest that they may also be related to improved awareness and recognition, differences in diagnostic criteria and practices, changes in screening age, and increased availability of services/support for individuals with ASD (APA, 2013a; Baio, 2014; Blumberg et al., 2013).
Males have a four times greater risk of being diagnosed with ASD than females, however, females who are diagnosed with ASD tend to have more severe intellectual deficits (Baio, 2014, Volkmar et al., 2014). Researchers suggest that this difference in diagnosis may be related to the possibility that girls with ASD may have more subtle social and communication problems and ASD may go unrecognized when it presents without concomitant intellectual impairments or language delays (Rivet & Matson cited in APA, 2013). Studies looking at prevalence rates based on geographic area,
race/ethnicity, and level of intellectual ability have shown significant variations but it is unclear whether these prevalence rate variations are related to actual differences in ASD. There is a substantial body of research that documents how ethnic/racial and socioeconomic disparities contribute to delays in the recognition, assessment and diagnosis of ASD. Within visible minority communities, the presence of intellectual disability has also been found to exacerbate the likelihood of inadequate assessment and missed diagnosis. This suggests that variations may simply reflect disparities in clinical practice, assessment, diagnosis, and treatment service availability within underserved communities, rather than, actual differences in rates. (APA, 2013; Baio, 2014; Mandell et al., 2009).
Etiology
The complexity of the disorder together with its diverse and overlapping symptoms has presented challenges in determining factors that contribute to and cause autism
(Mandal, 2015). Current research suggests that the development and presentation of ASD results from complex interactions between neurobiological, genetic and
environmental factors (AHRQ, 2014).
Neurobiological factors are believed to play a significant role in the development of autism. The large number and varied nature of the deficits suggest the involvement of an extensive and diverse set of neural systems. Evidence of both functional and structural brain changes have been identified including increases in overall brain size and
irregularities in white matter tract development. Despite these findings, specific loci not been identified and the significance of these brain changes are not clear. Elevated peripheral levels of serotonin have also been found in individuals diagnosed with autism and researchers suggest that other neurotransmitters, especially dopamine, play a role in the over-activity and stereotypical movement which is common in autism (Volkmar et al. 2013).
Over time, a number of possible environmental factors contributing to autism have been suggested. One theory, based on unethical and discredited research, has focused on the idea that childhood vaccines contributed to or caused autism. Extensive research has been done and no evidence of a causal link between vaccines and autism has been found. Despite this, the theory persists and continues to shadow and have influence in autism-based advocacy communities (Holaday, 2012; Kirkland, 2012; Volkmar et al, 2013). Although non-genetic risk factors for autism are poorly understood, research is ongoing and studies suggest that certain environmental factors such as advanced parental age, low birth weight, extreme prematurity, fetal exposure to valproate and maternal infections during pregnancy may contribute to increased risk. Epigenetic factors may contribute to the expression of ASD by enhancing or suppressing an individual’s genetic susceptibility to the disorder (APA, 2013a; AHRQ, 2014; Hallmayer et. al, 2013; Volkmar et. al, 2013; Walsh et.al, 2011).
High rates of ASD in siblings and identical twins have provided evidence that the development of autism is influenced by genetic factors (Volkmar et al, 2013). In the past, single gene research has focused on looking for susceptibility genes for ASD. While single genes have been implicated in about 15% of cases, current studies suggest that ASD more often has a polygenic mode of transmission with dozens of different genetic loci contributing to the development of ASD and autistic behaviour (APA, 2013a; Geschwind, 2011). Multiple genetic variations, both common and rare, have been found and a clear understanding of the genetic transmission of ASD is confounded by the presence of a large number of genes that occur as a result of spontaneous mutations – de novo copy-number variations (Geschwind, 2011; Hallmayer et al, 2011; Sebat et al, 2007). Further, most of these genetic variations are not specific to ASD, but also seem to increase susceptibility to a number of conditions including, schizophrenia, epilepsy, and attention deficit hyperactivity disorder (Geschwind, 2011). Research suggests that, in a majority of cases, complex processes including gene interactions, gene-environment interactions, and epigenetic factors are involved in the development and presentation of ASD. It remains unclear how specific genetic risks and individual
which ultimately shape the behaviour of individuals with ASD (AHRQ, 2014; Geschwind, 2011; Johnson et al., 2013).
Diagnostic Features of Autism Spectrum Disorder
DSM 5 diagnosis of ASD requires that an individual display persistent, pervasive and sustained deficits in reciprocal social communication and interaction across multiple contexts when compared to norms for age, gender, and culture (Criterion A). There must also be evidence of restricted and repetitive patterns of behaviour, interests, or activities (Criterion B). Symptoms must have been present during early development (Criterion C), must result in clinically significant impairment of daily functioning (Criterion D) and must not be better explained by intellectual disability or global developmental delay (Criterion E). Ideally, a diagnosis of ASD is made based on current and historic
information gathered from a number of collateral sources including clinicians, caregivers and (if possible) the individual’s self-report (APA, 2013a).
Criterion A is met only when the individual displays all of the following:
• Deficits in social-emotional reciprocity (manifested by inability to engage with and share thoughts and feelings with others)
• Deficits in nonverbal communicative behaviors used for social interaction (manifested by absent, reduced, or atypical use of gestures, facial expressions, body orientation, speech intonation and eye contact (relative to cultural norms)
• Deficits in developing, maintaining, and understanding relationships (manifested by absent, reduced, atypical or inappropriate social approaches or interest in others)
Criterion B may be manifest in various ways and may include simple motor stereotypies, repetitive use of objects, repetitive speech and stereotyped use of words, excessive adherence to routines, resistance to change and ritualized patterns of verbal or nonverbal behavior. Individuals with ASD may also display highly restricted, fixated interests and extreme or unusual responses to sensory input. Excessive reactions, rituals and restrictions related to the taste, smell, texture and appearance of food are also common (APA, 2013a).
Both Criterion A and Criterion B domains may present in significantly different ways depending on the particular individual’s characteristics, life stage, abilities, previous interventions, current supports and compensation strategies. Severity of ASD fluctuates and clinicians should specify the current level of severity and the amount of support required for each domain (APA, 2013a). Specifiers can be used to indicate the presence or absence of intellectual impairment, language impairment and/or catatonia. Related medical, genetic, or environmental factors should also be documented (APA, 2013a; Volkmar et. al., 2014).
Clinical Presentation
Core symptoms of ASD affect socialization, communication, and behaviour. Clinical signs generally present by 3 years of age and some deficits appear in infants as young as 6 or 12 months. (Levy, Mandell, & Schultz, 2009).
Speech impairments in autism appear to be in their own world and show impaired reciprocal communication even if they have formal language skills. These individuals may ignore requests, not initiate or participate in conversations, and may not even respond to their own name (APA, 2013a; Fasy, 2013).
Deficits in nonverbal communication behavior are evident in very young children who do not use or respond to social stimuli in a typical way. Facial expressions, smiles, body postures and gestures may be stilted and eye contact (relative to cultural norms) may be poor, absent or atypical (APA, 2013a; Jones & Klin, 2013). Children with ASD do not typically engage with others during play, may show reduced pointing, showing, or
bringing objects to others and often fail to follow the eye gaze or pointing of others. Even when spoken language deficits are subtle, individuals with ASD tend not to use
expressive gestures in a spontaneous way and their body language frequently appears wooden, odd or exaggerated (APA, 2013a; Fasy, 2013).
Deficits in social-emotional reciprocity are shown by children who rarely or never initiate interaction, share emotions, or imitate of other children’s behavior. When speech is used, it tends to be one-sided and it is primarily used to request or inform others rather than to mutually share thoughts or feelings with others. In adults, deficits in social-emotional reciprocity may cause difficulty in processing and/or responding to social cues particularly when the situation is new, complex or unusual (APA, 2013a).
The voice of someone with ASD
“As an autistic child, although I could understand everything people said, my responses were limited. I’d try but most of the time no spoken words came. It was similar to stuttering; the words just wouldn’t come out.”
“The clamor of many voices, the different smells – perfumes, cigars, damp wool caps or gloves, - people moving about at different speeds, going in different directions, the constant noise and confusion, the constant touching, were overwhelming.”
~Temple Grandin, 1986
Individuals with ASD have difficulty initiating and maintaining relationships. They may be passive in social encounters, may openly reject others or, alternatively, may approach people in a manner that is perceived to be aggressive or disruptive. Young children with ASD rarely engage in shared social and imaginative play and as they grow older, play often involves very rigid and fixed rules. Adults may struggle to understand appropriate behaviour and communication and may have difficulty adapting their behaviour as they move from one situation to another. They may lack understanding of the different ways that language may be used and may have difficulty with non-literal speech. Social interest may be low, absent or atypical and while some individuals with ASD prefer to engage in solitary activities, others wish to develop friendships but have unrealistic ideas about what actual friendships require and entail (APA, 2013a).
Individuals with ASD demonstrate repetitive and restricted patterns of behaviour,
interests and activities (APA, 2013a). In children repetitive behaviour may be manifest as rocking, spinning, tapping, flapping hands when excited, or self-harming behavior such as biting or head-banging. Individuals with ASD also show intense, focused, fixated and highly restricted interests. For example, children may play with only part of a toy rather than the whole toy, may excessively line up objects or may use repetitive speech, while an adult may repetitively write-out their next day’s schedule (APA, 2013a; Fasy, 2013). Children with ASD commonly show excessive adherence to routines and structure and often have restricted patterns of behavior. This trait means that they also have difficulty and become distressed with change or transitions of activities and may react with crying, screaming, flopping on the floor and having a temper tantrum or meltdown (Fasy, 2013). Some fixated interests and reactions may be related to hyper or hypo-sensitivity to sensory input. Individuals may have extreme reactions to sounds, light, odors, textures and sensations or they may seem to not feel and respond to negative or painful stimuli as expected (APA, 2013a). For these individuals, a lack of understanding of personal boundaries and risky or dangerous situations can make safety a major concern (Fasy, 2013). Some individuals with ASD have intense reactions to the taste, smell, texture, and appearance of food and may develop excessive rituals and restrictions related to food and meal time.
Functional Consequences, Comorbidities and Associated Features
There are significant functional consequences for individuals with ASD. A lack of social skills and communication abilities can have a detrimental effect on learning especially when it is dependent on or related to social interaction. Intellectual and/or language impairment often occurs in individuals with ASD and even those with average or above intelligence tend to have uneven skills and abilities. It is common to see a significant gap between the individual’s intellectual ability and their adaptive skills, academic performance and psychosocial functioning. Rigid adherence to routines, aversion to change, and sensory sensitivities, interfere with the activities of daily living and make eating, sleeping, grooming and routine care challenging (APA, 2013a). Extreme and restricted patterns of eating and food preferences are common and may persist into adulthood.
Individuals with ASD frequently experience psychiatric symptoms that do not fit the criteria for ASD. About 70 % of those with ASD have one comorbid psychiatric disorder and about 40% have 2 or more psychiatric comorbidities (APA, 2013a). Anxiety
disorders, depression and attentional disorders are common but may be undiagnosed due to being overshadowed by the symptoms of ASD (Anagnostou et al, 2014; Volkmar et al., 2014). It is important that individuals are given all diagnoses for which the
individual meets the criteria (APA, 2013a). ASD is also associated with physical health issues and individuals may experience seizures, sleep problems, constipation and abnormal motor signs including catatonic-like motor behaviour. A range of behavioural difficulties such self-injury, obsessive-compulsive phenomena, tics and affective signs are frequently observed in ASD and some individuals will display under or over reactivity as a result of impairments in emotional regulation (APA, 2013a; Volkmar et al., 2014). Symptoms of ASD and the related consequences are often experienced more acutely in childhood and youth and improve with age. While individuals may continue to require resources and support, they are often able to work successfully and live independently or within a supportive environment (Fasy, 2013). Although adults without intellectual disabilities often learn to manage language difficulties and suppress repetitive behaviour in public, the diagnostic criteria is considered to be met if communication issues and repetitive patterns of behaviour and activities were clearly evident in the individual’s past (APA, 2013a).
Screening and Assessment
Early intervention for individuals with ASD is important and has been found to improve outcomes. However, presentation of ASD can show substantial variation depending on the severity of the individual’s condition, their developmental level and their age. This makes the diagnosis of autism in infants and toddlers particularly challenging (APA, 2013a; Fasy, 2013). Some children show developmental delays prior to 12 months of age but delays become more prevalent and apparent during the second year of life. Developmental screening of young children and infants should include questions related to the core symptoms of ASD, with attention paid to social connection and unusual, restricted or repetitive behaviours (Fasy, 2013; Volkmar et al., 2014). Early screening is especially important if parents and caregivers of very young children describe unusual speech patterns, social difficulties or other atypical behaviors in their child (Fasy, 2013; Jones & Klin, 2013; Lopatin, 2012). A number of instruments which focus on
behaviour descriptions as well as parent’s current and ongoing concerns and observations (Levy, Mandell, & Schultz, 2009).
Intervention and Treatment of ASD
Historical Approaches
Throughout history, many different approaches have been used in the management and treatment of ASD. Approaches taken during most of the twentieth century primarily focused on encouraging children with autism to adopt more desirable social behavior and many, but not all, had a punitive effect. These interventions included such things as: long-term removal from parents with placement in residential or foster care settings (parentectomy); ingestion of Lysergic acid diethylamide (LSD) in an attempt to alter the individual’s perceptive state; use of electroconvulsive therapy (ECT) as treatment; use of painful electrical shocks and ECT as punishment for undesirable behavior; chelation therapy; holding or compression therapy (physical restraint) to promote calm and attachment to the holding figure; and the use of exclusion, special and/or supplemented diets. Despite anecdotal reports of improvement in a few individual cases, the majority of these approaches were found to be ineffective, unethical, outright harmful and often traumatizing (ASAT, n.d.; Durbin & Mandas, 2013; Herbert, Sharp & Gaudiano, 2002).
Complementary and Alternative Medicine (CAM) Therapies
In recent decades, interventions such as facilitated communication, sensory integration therapy, auditory integration training, dietary restrictions and/or supplementation, use of biological agents, and numerous other complementary and alternative medicine (CAM) therapies have been proposed, developed, widely publicized and adopted. These interventions make claims related to improving deficits in cognition and communication, developing pro-social behaviour, gaining functional skills, and promoting independence in those with ASD (Levy & Hyman, 2008; Volkmar et al., 2014). Research studies focused on these approaches have generally been found to be methodologically weak and there is a lack of sound scientific evidence that these treatments produce lasting or meaningful outcomes for people with ASD. Some CAM approaches have theoretical promise, but others are potentially harmful and many are overly-expensive (Anagnostou et al, 2014). Because the weight of available evidence does not support most CAM approaches, health providers should not recommend these treatments to caregivers (Herbert et al., 2002; Levy & Hyman, 2008; Munshi, Gonzalez-Heydrich, Augenstein & D’Angelo; Myers, 2009; Volkmar et al., 2014,).
Many parents and caregivers continue to use a variety of CAM therapies, therefore, families should be encouraged to disclose all interventions used, whether or not they are empirically supported or endorsed as effective treatment (Levy & Hyman, 2008).
evaluate any intervention they are considering (Levy & Hyman, 2008; Myers & Plauché Johnson, 2007; Volkmar, 2014).
Contemporary Evidence-Based Practice
Research suggests that the most effective therapy for ASD involves comprehensive treatment using structured and supportive behavioural, communication and educational interventions within a chronic management model (AHRQ, 2014; Myers, 2009; Volkmar et al., 2014). The focus of treatment is improving the person’s and caregivers’ quality of life. Goals for treatment include: 1) correcting or lessening core deficits; 2) minimizing associated difficulties and problems; 3) maximizing functional independence 4)
alleviating family distress and 5) promoting overall health and well-being (AHRQ, 2014; Levy & Hyman, 2008; Mandal, 2015; Myers, 2009). Recent systematic research reviews support the recommendation that earlier intervention may lead to greater improvements and better overall results (AHRQ, 2014; Mandal, 2015; Volkmar et al., 2014). The pervasive nature of deficits and the existence of comorbid features means that progress is often slow and incremental (Levy & Hyman, 2008).
Applied Behavior Analysis (ABA) is a well -researched behavioural intervention which is informed by empirically supported learning principles and has strong support in the peer-reviewed research literature (Myers, 2009; Volkmar, 2014). ABA focuses on reliably measuring and evaluating observable behavior within home, school, and community settings. Interventions are aimed at reshaping behaviour and improving skills through the use of consistent and repetitious positive reinforcement. ABA requires active
parental/caregiver participation and features intensive individualized interventions that target specific symptoms and skills. Treatment typically moves from a one-to-one format to group interventions (Munshi et al. 2011; Myers & Plauché Johnson, 2007; Myers, 2009). Intensive discrete-trial training (DTT) and pivotal response training (PRT) are specific intervention techniques that draw on ABA principles and have been found to be effective (Munshi et al. 2011). ABA has been shown to reduce maladaptive behaviours that interfere with learning, while increasing corresponding desirable behaviours. These methods help people with ASD to generalize and adapt behaviors to new environments or situations (Myers et.al. 2007; Volkmar, 2014). There is a growing body of evidence that behavioral interventions such as ABA are associated with substantial and persistent gains in language, academic performance, and adaptive behaviour, especially when combined with early intervention beginning when children are 2 to 4 years of age. ABA interventions are also considered to be an effective and primary treatment for disruptive, self-injurious and aggressive behaviours. (AHRQ, 2014; Munshi et al. 2011; Myers & Plauché Johnson, 2007; Myers, 2009). Despite growing empirical evidence, more
rigorous research is needed to increase understanding of the effectiveness of behavioral interventions with different individuals with varying symptoms (AHRQ, 2014).
individualized educational plan which accurately recognizes and responds to the individual’s strengths and vulnerabilities is essential. Curricula should include goals focused on developing academic skills and improving social, motor, and behavioural capabilities (Volkmar et al., 2014). Communication is an essential focus of intervention and the goal of enhancing verbal and non-verbal communication should be included in the educational plan of all children with ASD. Speech-language therapists can
coordinate communication interventions. Alternative or augmented communication modalities such as sign language, communication boards, picture exchange, and visual supports can be developed for individuals who do not use words. Individuals with fluent speech may benefit from interventions that focus on enhancing socially reciprocal speech and pragmatic language skills (Myers & Plauché Johnson, 2007; Volkmar et al., 2014). Occupational therapy and physical therapy may also be helpful in promoting skill development and addressing specific issues and comorbid problems related to motor coordination and sensory deficits (Myers & Plauché Johnson, 2007).
Psychotropic medications have not been found to either repair or improve the core deficits of ASD and medications should not be used to treat these impairments
(Anagnostou et al, 2014; Munshi et al, 2014). Associated comorbid symptoms of ASD such as irritability, hyperactivity, depression, sleep disturbances and anxiety may be targets of psychotropic medication. In particular, risperidone and aripiprazole have been found to be effective for irritability and are the only drugs approved by the Federal Drug Administration (USA) for ASD related symptoms (Anagnostou et al, 2014; Munshi et al, 2014; Volkmar et al., 2014). Combined treatment that includes behavioural
interventions, parent teaching and medication have been found to be superior to any of the treatments alone in decreasing severe disruptive behaviour, alleviating emotional distress and increasing adaptive functioning in individuals with ASD associated irritability and anxiety (Munshi et.al, 2014; Volkmar, 2014). Cognitive Behavioural Therapy
(CBT) has been found to be effective for individuals with ASD and co-existing anxiety when they have the verbal and cognitive ability to engage in the intervention
(Anagnostou et al, 2014; NICE, 2013). Other medications such as anticonvulsants can be used to treat seizures and melatonin has been found to be effective in some
individuals with sleep disturbances. Ongoing research into the effectiveness of psychosocial and pharmacological interventions for the treatment of associated symptoms is needed (Anagnostou et al, 2014; March & Schub, 2013).
ASD is complex, has various manifestations, and is generally not “curable.” This means that, even as adults, despite changes in symptoms, behaviour, and abilities over time, individuals with ASD remain in the spectrum and continue to be challenged by problems with daily living, employment, communication, social relationships, and mental health issues (Myers et. al., 2007; Myers, 2009). Adult ASD treatment should take a chronic disease management approach and clinicians working with adults should:
• work in partnership with the individual and their families, partners and carers;
• build trusting, supportive, empathic, respectful and non-judgemental relationships that offer support and care;
• foster the person's autonomy;
• promote active participation in decisions about care; and
• support self-management (NICE, 2012).
Information about ASD, available treatment, and services should be given to the person and significant others (as appropriate). Clinical language should be explained and communication deficits should be considered when providing information and confirming understanding. Clinicians need to be aware of and sensitive to problems in social
interaction and communication and consider their potential significance when encouraging development of relationships with others (NICE, 2012).
Parents, siblings, and partners of individuals with ASD face significant challenges and substantial parental and family support is required on an ongoing and consistent basis (Levy, Mandell, & Schultz, 2009; Myers & Plauché Johnson, 2007). Studies looking at parental divorce and separation rates in individuals with ASD have given inconsistent results, but it is clear that parents of children with ASD are vulnerable to relationship stress, marital problems, decreased social support and potential relationship
fragmentation (Ramisch, Timm, Hock, & Topor, 2013;
Volkmar et al., 2014
). Family members need to be aware that they have a right to personal, social and emotional support. Short breaks, respite care and other services that can support caregivers as couples, individuals and family units should be offered and available. Clinicians providing information and services need to take into account the unique barriers and challenges faced by families coping with ASD (Myers & Plauché Johnson, 2007; NICE, 2012, 2013; Ramisch et al., 2013).Self-Advocacy
Over the past twenty years, self-advocates with ASD have begun to regard autism as a neurological difference which should be respected, rather than as a disorder or
deficiency that needs to be ‘repaired’ (Owren & Stenhammer, 2013). This movement has been referred to as the “autism rights” or “neurodiversity” movement. Individuals who follow this movement believe that “autism is a way of being” and refer to themselves as neurodiverse. Members of this movement affirm the worth of autism as an essential and valued part of their identity and articulate full acceptance of themselves as “autistic individuals” (Sinclair, 1993; 1999).
CONCLUSION
In the last 15 years, the number of individuals receiving a diagnosis of ASD has
increased more than 100 fold. In addition, the criteria for diagnosing ASD has evolved to account for the diversity in social communication and interaction, patterns of behavior, and focused interests as outlined in the DSM 5. As researchers continue to conduct research, clinicians are constantly learning more about what contributes to the development of ASD, what evaluation tools are available to assist with screening, assessment and managing care, and what therapies are the most practical, useful and successful with individuals and families who live with ASD. Yet to this day, healthcare is still “catching up to Asperger, who believed that the "cure" for the most disabling aspects of autism is to be found in understanding teachers, accommodating employers,
supportive communities, and parents who have faith in their children's potential (Silberman, 2015).” With persistent dedication to learning and understanding, and flexibility with practice, clinicians can contribute to the creation of a more accepting, safe and functional world for individuals who identify as ‘neurodiverse’.
REFERENCES
Allan, G. M. (2010). The autism-vaccine story: Fiction and deception? Canadian Family Physician, 56, 1013.
American Psychiatric Association. (1952, 1968, 1980). Diagnostic and statistical manual of mental disorders (Revisions I-IV). Washington, DC:Author.
American Psychiatric Association. (2013a). Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition. Arlington, VA, American Psychiatric Association.
American Psychiatric Association. (2013b). Autism spectrum disorder. Retrieved August 10, 2015, from
http://www.dsm5.org/Documents/Autism%20Spectrum%20Disorder%20Fact%20Sheet.pdf
Anagnostou, E. Zwaigenbaum, L., Szatmari, P., Fombonne, E., Fernandez, B.A.,
Woodbury-Smith M., Brian, J., Bryson, S., Smith, I.M. Drmic, I., Buchanan, J.A., Roberts, W., Scherer, S.W. (2014). Autism spectrum disorder: Advances in evidence-based practice. CMAJ, April 15, 2014, 186(7) 509 – 519. Accessed March 2016 @
http://www.autismontario.com/Client/ASO/AO.nsf/object/ASDReview2014/$file/ASD+-+Review+of+Evidence+Based+Practice4.pdf
Association for Science in Autism Treatment (ASAT). (nd). Making Sense of Autism Treatments: Weighing the Evidence. Author. Accessed March 2016 @
http://www.asatonline.org/research-treatment/making-sense-of-autism-treatments-weighing-the-evidence/
Bainbridge, J. (2013). Inducing labour may increase risk of autism. British Journal of Midwifery, 21(11), 828.
Baio, J. (2014). Prevalence of autism spectrum disorder among children aged 8 years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2010. Centers for Disease Control and Prevention (CDC). MMWR 2014; 63 (No. 2): 1- 21. Accessed online December 2015 @
http://www.cdc.gov/mmwr/pdf/ss/ss6302.pdf
Blumberg, S. J., Bramlett, M. D., Kogan, M. D., Schieve, L. A., Jones, J. R., & Lu, M. C. (2013). Changes in prevalence of parent-reported autism spectrum disorder in school-aged US children: 2007 to 2011–2012. National Health Statistics Reports, 65, 1-12. Accessed online November 2015 @
http://www.sased.org/vimages/shared/vnews/stories/513f815505c21/AUTISM%20National%20Heal th%20Statistics%203%2020%2013.pdf
Brasic, J. R. (2015). Autism: Practice essentials. Medscape Drugs and Diseases, December 1, 2015. Accessed online December 2015 @
http://emedicine.medscape.com/article/912781-overview#a1
Brauser, D. (2014). New practice guidelines for autism. Medscape Medical News, January 29, 2014. Accessed online December 2015 @
http://www.medscape.com/viewarticle/819935
Dingfelder, H. E. & Mandell, D. S. (2011). Bridging the research-practice gap in autism intervention: An application of diffusion of innovation theory. Journal of Autism and Developmental Disorders, 41, 597-609.
Durbin, B. & Mandas, K. (2013). Evolution of the Treatments of Autism. Accessed March 2016 @ http://bdkmsw.umwblogs.org/what-is-autism/aba-therapy/#
Agency for Healthcare Research and Quality (AHRQ). (2014). Therapies for Children with Autism Spectrum Disorder: Behavioral Interventions Update. Comparative Effectiveness Review, Number 137. Effective Health Care Program, AHRQ, Department of Health and Human Services – USA. Accessed online March 2016 @
https://www.effectivehealthcare.ahrq.gov/ehc/products/544/1945/autism-update-report-140929.pdf
Evans, P. (2013). Understanding the mechanisms of autism. Practice Nursing, 24(2), 90-94.
Fasy, J. (2013). Autism spectrum disorders: Learning the signs. New Hampshire Nursing News, 17.
Frye, R. E., Melnyk, S., MacFabe, D. F. (2013). Unique acyl-carnitine profiles are potential biomarkers for acquired mitochondrial disease in autism spectrum disorder. Translational Psychiatry, 3, 1-9.
Geschwind, D.H. (2011). Genetics of autism spectrum disorders. Trends in Cognitive Sciences. 15(9):409–416
Grandin, T. (1986). Emergence labeled autistic. New York, NY: Warner Books, Inc.
Goodman, B. (2013). Research probes autism’s origins in the brain. Retrieved January 27, 2015, from www.webmd.com/brain/autism/news/20131121/research-probes-autisms-origins-in-the-brain?bookmark=true&login=true&print=true
Government of Canada. (2015). Government of Canada investments in autism research critical to Canada. Retrieved August 4, 2015, from http://news.gc.ca/web/article-en.do?nid=975439
Hallmayer, J., Cleveland, S., Torres, A., Phillips, J., Cohen, B., Torigoe, T., … Risch, N. (2011). Genetic heritability and shared environmental factors among twin pairs with autism. Archives General Psychiatry.68(11), 1095-1102. Published online July 4, 2011. Accessed online February 2016 @
http://www.ncbi.nlm.nih.gov/pubmed/21727249 doi:10.1001/archgenpsychiatry.2011.76.
Hensley, E. & Briars, L. (2010). Closer look at autism and the measles-mumps-rubella vaccine. Journal of the American Pharmacists Association, 50(6), 736-741.
Herbert, J.D., Sharp, I.R. & Gaudiano, B. A. (2002). Separating fact from fiction in the etiology and treatment of autism: A scientific review of the evidence. The Scientific Review of Mental Health Practice, 1(1). Accessed online March 2016 @ http://www.srmhp.org/0101/autism.html
Hilton, S., Hunt, K. & Petticrew, M. (2007). MMR: Marginalized, misrepresented and rejected? Autism: A focus group study. Archives of Disease in Childhood, 92, 322-327.
Horvath, A. & Perman, J. (2002). Autistic disorder and gastrointestinal disease. Current Opinion in Pediatrics, 14, 583-587.
Johnson, N. L., Giarelli, E., Lewis, C., & Rice, C. E. (2013). Genomics and autism spectrum disorder. Journal of Nursing Scholarship, 45(1), 69-78. Accessed online January 19, 2016 DOI: 10.1111/j.1547-5069.2012.01483.x
Jones, W. & Klin, A. (2013). Attention to eyes is present but in decline in 2-6 month old infants later diagnosed with autism. Nature, 504, 427-431.
Kelleher, R. J. & Bear, M. F. (2008). The autistic neuron: Troubled translation? Cell 2008, 135, 401-406.
Kirkland, A. (2012). The legitimacy of vaccine critics: what is left after the autism hypothesis? Journal of Health Politics, Policy and Law. 37(1):69-97. Accessed online January 19, 2016. doi: 10.1215/03616878-1496020
Lauritsen, M. B. (2013). Autism spectrum disorders. European Child & Adolescent Psychiatry, 22(Suppl 1), S37-S42.
Levy,S.E. & Hyman, S.L. (2008). Complementary and alternative medicine treatments for children with autism spectrum disorders. Child and Adolescent Psychiatric Clinics of North America. 2008 17(4): 803–ix. Accessed March 2016 @ doi:10.1016/j.chc.2008.06.004
Levy, S.E., Mandell, D.S. & Schultz, R.T. (2009). Autism. Lancet. 374(9701): 1627– 1638. Accessed online @ http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2863325/ doi: 10.1016/S0140-6736(09)61376-3
Lopatin, S. (2012). What are the earliest signs of autism? Exceptional Parent Magazine, 51.
Lord, C., Rutter, M., DiLavore, P. E., & Risi, S. (2012). Autism Diagnostic Observation Schedule (ADOS)(2nd ed.) Retrieved August 6, 2015, from
http://www.mhs.com/product.aspx?gr=cli&prod=ados2&id=overview
Mandal, A. (2015). Autism. Retrieved August 4, 2015, from http://www.news-medical.net/health/Autism-Causes.aspx
Mandell, D. S., Wiggins, L. D., Carpenter, L.A., Daniels, J., DiGuiseppi, C., Durkin, M.S. Giarelli, E., Morrier, M. J., Nicholas, J.S. Pinto-Martin,J.A. Shattuck, P.T.,
Thomas, K.C. Yeargin-Allsopp, M. & Kirby, R.S. (2009). Racial/ethnic disparities in the identification of children with autism spectrum disorders. American Journal of Public Health. 99(3): 493–498. Accessed online January 20, 2016 @ doi: 10.2105/AJPH.2007.131243
March, P. & Schub, T. (2013). A quick lesson about autism. CA: Cinahl Information Systems.
Miller, L. & Reynolds, J. (2009). Autism and vaccination: The current evidence. Journal for Specialists in Pediatric Nursing, 14(3), 166-172.
Munno, D. W. & Syed, N. I. (2003). Synaptogenesis in the CNS: An odyssey from wiring together to firing together. Journal of Physiology, 552, 1-11.
Munshi, K.R., Gonzalez Heydrich, J., Augenstein, T., & D’Angelo, E.J. (2011). Evidence based treatment approach to autism spectrum disorders. Pediatric Annals, 40, 569574.
Myers, R. A., Casals, F., Gauthier, J. Hamdan, F. F., et al. (2011). A population genetic approach to mapping neurological disorder genes using deep resequencing. Plos Genetics, 7(2).
Myers, S.M. (2009). Management of autism spectrum disorders in primary care. Pediatric Annals, 38(1), 42- 49.
Myers, S.M., Plauche´ Johnson, C. & the Council on Children With Disabilities. (2007). Management of children with autism spectrum disorders. Pediatrics 120 (5). p.1162- 1182. Accessed March 2016 @ http://www.behavior.org/resources/265.pdf National Institute of Health. (2015). NINDS autism information. Retrieved July 31, 2015,
from http://www.ninds.nih.gov/disorders/autism/autism.htm.
National Institute for Health and Care Excellence – NICE. (2012). Autism in adults: Diagnosis and management. NICE guidelines. Accessed online March 2016 @ https://www.nice.org.uk/guidance/cg142
National Institute for Health and Care Excellence – NICE. (2013). Autism in under 19s: Support and management. NICE guidelines. Accessed online March 2016 @ https://www.nice.org.uk/guidance/cg170
Owren, T. & Stenhammer, T. (2013). Neurodiversity: Accepting autistic difference. Learning Disability Practice, 16(4), 32-37.
Parikshak, N.N., Luo, R., Zhang, A., Won, H., Lowe, J.K. Chandran, V., Horvath, S., Geschwind, D.H. (2013). Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism. Cell. 155 (5), 1008–1021. Accessed online January 19, 2016 DOI: http://dx.doi.org/10.1016/j.cell.2013.10.031 Poland, G. A. (2011). MMR vaccine and autism: Vaccine nihilism and postmodern
science. Mayo Clinic Proceedings, 86(9), 869-871.
Ramisch, J. L., Timm, T. M., Hock, R. M., Topor, J. A. (2013). Experiences delivering a marital intervention for couples with children with autism spectrum disorder. The American Journal of Family Therapy, 41, 376-388.
Recame, M. A. (2012). The immunization-autism myth debunked. International Journal of Childbirth Education, 27(4), 76-78.
Riggott, J. (2005). Pseudoscience in autism treatment: Are the news and entertainment media helping or hurting? The Scientific Review of Mental Health Practice, 4(1). Accessed March 2016 @ http://www.srmhp.org/0401/media-watch.html
Robson, B. (2013). Autism spectrum disorder: A review of the current understanding of pathophysiology and complementary therapies in children. Australian Journal of Herbal Medicine, 25(3), 128-151.
Rosenberg, R. E., Law, J. K., Yenokyan, G., Mcgready, J., Kaufman, W. E. & Law, P. A. (2009). Characteristics and concordance of autism spectrum disorders among 277 twin pairs. Archives of Pediatric Adolescent Medicine, 163, 907-914. Rosenberg, R. E., Law, J. K., Anderson, C., Samango-Sprouse, C., Law, P. A. (2012).
Survey of vaccine beliefs and practices among families affected by autism spectrum disorders. Clinical Pediatrics, 52(9), 871-874.
Rossignol, D. A. & Frye, R. E. (2012). Mitochondiral dysfunction in autism spectrum disorders: a systematic review and meta-analysis. Molecular Psychiatry, 17, 290-314.
Scherer, S. W. et al. (2014). Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. The American Journal of Human Genetics, 94, 677-694.
Shattuck, P., & Grosse, S. (2007). Issues related to the diagnosis and treatment of autism spectrum disorders. Mental Retardation and Developmental Disabilities Research Reviews, 13, 129-135.
Scherer, S. W. et al. (2011). Functional impact of global rare copy number variation in autism spectrum disorder. Nature, 466(7304), 368-372.
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C. et al. (2007). Strong association of de novo copy number mutations with autism. Science 316(5832), 445-449.
Silberman, S. (2015).The forgotten history of autism. TED talk and transcript. Accessed online March 2016 @
https://www.ted.com/talks/steve_silberman_the_forgotten_history_of_autism/transcript?language=e n
Sinclair, J. (1993). Don’t mourn for us. Autonomy, the Critical Journal of Interdisciplinary Autism Studies, 1(1), 1-4.
Sinclair, J. (1999). Why I dislike ‘person-first’ language. Autism Network International, 1(2), 1-2.
Volkmar, F., Siegel, M., Woodbury-Smith, M., King, B., McCracken, J., State, M., & the American Academy of Child and Adolescent Psychiatry (AACAP) Committee on Quality Issues (CQI). (2014). Practice parameter for the assessment and
treatment of children and adolescents with autism spectrum disorder. Journal of the American Academy of Child & Adolescent Psychiatry, 53 (2), 237–257. Accessed online December 2015. DOI: http://dx.doi.org/10.1016/j.jaac.2013.10.013 Walsh P.N., Elsabbagh, M., Bolton, P. & Singh, I. In search of biomarkers for autism:
Scientific, social and ethical challenges. Nature Reviews-Neuroscience. 2011;12:603–612. Accessed online January 19, 2016.
http://ssrn.com/abstract=2693575
Wieder, S. & Greenspan, S. (2005). Can children with autism master the core deficits and become empathic, creative, and reflective? The Journal of Developmental and Learning Disorders, 9, 1-29.
