Address for correspondence: Dr. Alka A. Subramanyam, OPD 13, 1 st Floor, Department of Psychiatry, TMC and BYL Nair Ch. Hospital, Dr. A. L. Nair Road, Mumbai - 400 008, Maharashtra, India. E-mail: moc.liamg@maynamarbus.akla
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These guidelines have been framed after an amalgamation of expert guidelines across the globe, and existing practices in India, as outlined by experts in the field. Due to the lack of systematic research in the field of autism in India, the evidence of the said practices is not documented, which becomes a limitation of these guidelines. The good part is that India has an indigenous tool for assessment, which has been recommended by the Government of India, which we have attached as an Appendix 1.
Autism has till date always been viewed as an illness from the medical model, and hunt for a “cure” has been the norm. With the increase in awareness and available therapies, the focus shifted to disability and inclusion. However, as more autistic individuals express themselves and their needs, the focus now has shifted from the medical model to the social model of neurodiversity, thereby implying that autism is actually a variant of normal human development and human diversity. The next decade will probably see how best the two paradigms can be aligned to destigmatize and integrate autistic individuals into society at large.
Keeping the above in mind, the 5 th edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM 5) shifted from grouping the disorders as separate diagnoses under the umbrella of pervasive developmental disorders (PDDs) to conceptualizing them as all members of the broader category of known as autism spectrum disorder (ASD). The number of core domain deficits was reduced to two (social communication and repetitive behavior). ASD would now be diagnosed when a patient demonstrated at least three symptoms in the domain of social communication and at least two symptoms of restricted interests/repetitive behaviors; including an added behavior of hyper-or hypo-reactivity to sensory input or unusual interests in sensory aspects of the environment [ Table 1 ].
Diagnostic and statistical manual of mental disorders -IV-TR versus diagnostic and statistical manual of mental disorders - 5
Recommendation to identify “specifiers” to better understand the individual needs of each child with ASD (cognitive and language ability, level of supports needed, co-occurring medical and mental health conditions, catatonia)
The inclusion of co-occurring mental health disorders (e.g., attention-deficit/hyperactivity disorder).
The International Classification of Diseases-10 th version (ICD-10), still used the term PDD. What is interesting is that the proposed changes in ICD-11 have not only changed the nosology to ASD but have also included intellectual development and functional language, which is closer to the clinical picture, and also is in keeping with the concept of neurodiversity.
At a glance, when we compare these classificatory systems, below are the changes we can see [ Table 2 ].
Change in the classification of autism
Thus with the above inclusions, the numbers are bound to increase. The latest statistics state that the prevalence of ASD, is now estimated at 1 in 68, more in males, (Centre for Disease Control National Center on Birth Defects and Developmental Disabilities, USA, 2014), which is alarming rise from 1:500 less than a decade ago. The possible reason for this is increase in the number of copy number variation and gene variations. Multiple genes seem to be involved. These genes are responsible for synaptic plasticity, synaptic scaffolding proteins, receptors, cell adhesion molecules or proteins that are involved in chromatin remodeling, transcription, protein synthesis or degradation, or actin cytoskeleton dynamics. For example, Genes for neuroligins, SHANKs, CNTNAP2, FMR1 to name a few.
On analysis of neuronal growth and pathways cortico-striato-thalamo-cortical circuits (for repetitive behaviors), ventral tegmental area connectivity to nucleus accumbens (for social interaction), and amydala to ventral hippocampal connectivity (for social interactions) are areas of active interest and study. The validity of the same, and the translation into structural diagnostic neuro-imaging is yet to be established, and hence limits the use of the same.
Similarly, functional neuropathology reveals excessive synapses due to a slow pruning process. However, diagnostic modalities to ascertain the same are yet awaited.
Autism being a complex disorder, the assessment should as far as possible be done by multidisciplinary team who besides the psychiatrist should include a psychologist, a special educator, an occupational therapist, and an audiologist and speech therapist [ Figure 1 ]. In the western world, educational psychologists in school settings double up for the assessment of cognition and curricular level too. Furthermore, it is good to keep the child's pediatrician in the loop, to ensure that any physical comorbidities are handled effectively too.
Approach to assessment of autism
Beyond longitudinal changes in ASD symptoms, the assessment of co-occurring physical and mental health conditions, is essential to providing quality care. Clinicians must actively ask about signs and symptoms of these conditions. Rule-out other conditions (e.g., hearing impairment), evaluate for co-morbid conditions (e.g., seizures), and search for underlying etiology (e.g., genetic syndrome). A medical history (birth, current health, and family history), physical examination (growth, dysmorphic features, neuro, and skin evaluation) and audiological evaluation, genetic testing (chromosomes, fragile x, microarray), and other optional investigations such as electroencephalography, brain imaging, metabolic testing, as appropriate might be useful depending on the nature of the case. The above approach helps to delineate essential versus complex autism, when it comes to overall management and prognosis, as well as gives us a base on which to approach and psycho-educate the parents.
The Ministry of Social Justice and Empowerment (Department of Empowerment of Disabilities) released the INCLEN Tool for the assessment of ASD on April 25, 2016, to be uniformly followed for the assessment of autism in India. Inbuilt in the tool, is a scale called Indian Scale for assessment of Autism, which not only gives cutoff scores but also severity indices and percentage disability, which helps certify (detailed later) and is in keeping with the new Rights of Persons with Disability Act.
The American Academy of Pediatrics recommends that all children be screened for developmental delays and disabilities during regular well-child doctor visits, namely, at 9 months, 18 months, 24 or 30 months. The American Association for Child and Adolescent Psychiatry recommends ASD surveillance at all developmental and psychiatric assessments of children, ASD-specific screening Modified Checklist for Autism in Toddlers (e.g., M-CHAT) at 18 and 24 months visits or when surveillance raises concern. If the screening indicates significant ASD symptomatology, a thorough diagnostic evaluation is essential. Evaluation should include multi-disciplinary assessment with the clinician coordinating it. Diagnostic instruments commonly used: Autism Diagnostic Observation Schedule (ADOS), Autism Diagnostic Interview, and Diagnostic Interview for Social and Communication Disorders. The use of such instruments only supplement, but not replace informed clinical judgment. Early screening, however, is recommended to intervene early [Tables [Tables3 3 and and4 4 ].
Early symptomatic biomarkers for detection of autism
Modified checklist for autism in toddlers revised scoring
The M-CHAT-R can be administered and scored as part of a well-child care visit, and also can be used by specialists or other professionals to assess risk for ASD. The primary goal of the M-CHAT-R is to maximize sensitivity, meaning to detect as many cases of ASD as possible. Therefore, there is a high false positive rate, meaning that not all children who score at risk will be diagnosed with ASD. To address this, we have developed the follow-up questions (M-CHAT-R/F). Users should be aware that even with the follow-up, a significant number of the children who screen positive on the M-CHAT-R will not be diagnosed with ASD; however, these children are at high risk for other developmental disorders or delays, and therefore, evaluation is warranted for any child who screens positive
For all items except 2, 5, and 12, the response “NO” indicates ASD risk; for items 2, 5, and 12, “YES” indicates ASD risk. The following algorithm maximizes psychometric properties of the M-CHAT-R:
Total score is 0–2; if the child is younger than 24 months, screen again after the second birthday. No further action required unless surveillance indicates risk for ASD.
Total score is 3–7; Administer the follow-up (second stage of M-CHAT-R/F) to get additional information about at-risk responses. If the M-CHAT-R/F score remains at 2 or higher, the child has screened positive. Action required: Refer child for diagnostic evaluation and eligibility evaluation for early intervention. If the score on follow-up is 0–1, child has screened negative. No further action required unless surveillance indicates risk for ASD. The child should be rescreened at future well-child visits.
Total score is 8–20; it is acceptable to bypass the follow-up and refer immediately for diagnostic evaluation and eligibility evaluation for early intervention.
For assessment, the common tools used are screening tools and diagnostic tools.
Screening tools are designed to help identify children who might have developmental delays. It can be specific to a disorder (for example, autism) or an area (for example, cognitive development, language, or gross motor skills), or they may be general, encompassing multiple areas of concern. Screening tools do not provide conclusive evidence of developmental delays and do not result in diagnoses. A positive screening result should be followed by a thorough assessment. Screening tools do not provide in-depth information about an area of development
Many diagnostic tools are available to assess ASD in young children, but no single tool should be used as the basis for diagnosis. Diagnostic tools usually rely on two main sources of information--the parents’ or caregivers’ descriptions of their child's development; and a professional's observation of the child's behavior. In some cases, the primary care provider might choose to refer the child and family to a specialist for further assessment and diagnosis. Such specialists include child psychiatrists, geneticists, neurodevelopmental pediatricians, and early intervention programs that provide assessment services [ Table 5 ].
Summary of selected assessment instruments for autism spectrum disorder
Alternatively, information can be obtained from caregivers about the child's ASD symptoms using questionnaires. The two most commonly used are the Social Responsiveness Scale (SRS, SRS-2) and the Social Communication Questionnaire.
In accordance with DSM-5 specifiers, some features related to ASD require additional assessment, including the presence of cognitive or language impairment (or both). Abilities in these areas can range from severely impaired to advanced. The presence of developmental delays or co-occurring diagnoses, such as attention deficit and hyperactivity disorder (ADHD), in addition to ASD symptoms, may add complexity to the diagnostic assessment process. Given these complexities, cognitive and language assessments and consideration of comorbid emotional and behavioral disorders are recommended for all patients with ASD.
ADHD particularly becomes a very important co-morbidity and confounding factor with ASD. Prevalence of ADHD symptoms in individuals with a primary clinical diagnosis of ASD has been reported to be between 13% and 50% in the general population. When in doubt, the symptoms can be treated, and a diagnosis can be made later. This particularly holds true for those who have high functioning autism (previously Asperger's) and hyperactivity.
Similarly, it is difficult to differentiate between intellectual disability and ASD at times, and the comorbidity is very high, around 30%–45%. Besides, there are hardly any tests which can accurately assess cognitive ability and intellect in autism. Hence, whenever in doubt, a period of serial evaluation and observation helps in reaching the final diagnosis. The ASDs-comorbidity for adults (ASD-Ca), 84 item scale designed to look at comorbid psychopathology in adults with as an intellectual disability.
Most of the time, inputs from members of the multi-disciplinary team will help lead to the diagnosis of autism. However, at times, it becomes difficult to differentiate autism from other conditions. Hence, the following are important to keep in mind while assessing the individual [ Table 6 ].
Differential diagnosis of autism spectrum disorder
A differential diagnosis for specific core domains becomes easier to approach, rather than trying to establish a differential for the disorder as a whole. This helps avoid both over-diagnosis and under-diagnosis.
Just as the ideal assessment for autism is multi-disciplinary, so too, approach to treatment involves a multi-sensory, multi-disciplinary approach. Early intervention should be the aim to yield the best outcome and results.
Despite advances in early diagnosis and intervention, efficacious reversal of core autistic symptoms is still not accomplished, to date.
Treatments include a range of behavioral, psychosocial, educational, medical, and complementary approaches. The options vary by age and developmental status.
Chronic management is often required to maximize functional independence and quality of life by minimizing core deficits in social skills and communication, facilitating development and learning, promoting socialization, reducing maladaptive behaviors, and educating and supporting families.
The treatments can be broadly divided into the following:
These form the mainstay of approaches toward autism. These may be divided into:
Early-stage Denver model – This aims to accelerate children's development in all domains; intervention targets derived from the assessment of developmental skills; stresses social-communicative development, interpersonal engagement, imitation-based interpersonal development, and social attention and motivation
Applied behavioral analysis (ABA) – ABA is probably the most widely used intervention for children as well as adults with autism. It focuses on improving specific behaviors initially using discrete trials to teach simple skills, then progressing to more complex skills and complex behaviors. It is helpful in a wide variety of skills, namely, social skills, communication, reading, and academics as well as adaptive learning skills, such as fine motor dexterity, hygiene, grooming, domestic capabilities, punctuality, and job competence. ABA is effective for children and adults with psychological disorders in a variety of settings, including schools, workplaces, homes, and clinics. It has also been shown that consistent ABA can significantly improve behaviors and skills and decrease the need for special services. Ideally, more than 20 h per week, under the age of 4 is recommended. ABA also helps in minimizing negative behaviors. In autistic adults, ABA can help with memory, relationships and cognitive strength
Social communication, emotional regulation, and transactional support – This is an educational model which uses practices from other approaches, including ABA, TEACCH, floortime and relationship development intervention (RDI). The social communication, emotional regulation, and transactional support (SCERTS). Model differ most notably from the focus of ABA, by promoting child-initiated communication in everyday activities. SCERTS is the most concerned with helping children with autism to achieve progress, which is defined as the ability to learn and spontaneously apply functional and relevant skills in a variety of settings and with a variety of partners.
The acronym SCERTS refers to the focus on:
SC: Social Communication-Development of spontaneous, functional communication, emotional expression and secure and trusting relationships with children and adults
ER: Emotional Regulation-Development of the ability to maintain a well-regulated emotional state to cope with everyday stress, and to be most available for learning and interacting
TS: Transactional Support-Development and implementation of supports to help partners respond to the child's needs and interests, modify and adapt the environment, and provide tools to enhance learning (e.g., picture communication, written schedules, and sensory supports).
Specific plans are also developed to provide educational and emotional support to families, and to foster teamwork among professionals.
These include therapies that focus on building emotional relationships, fostering social communication, and building social skills. Most commonly practiced are:
DIR/Floortime-Developmental, individual difference, relationship-based and RDI-Relationship development intervention
Use of communication modalities such as sign language, communication boards, visual supports, picture exchange communication system (PECS), use of social stories, and social skills training. The latter three are more commonly used strategies, with some degree of effectiveness.
The PECS, allows people with minimal or no verbal abilities to communicate using pictures. An individual using PECS is taught to approach another person and give them a picture of the desired item in exchange for that item. This thus forms a means of communication. A child or adult with autism can use PECS to communicate a request, a thought, or anything that can reasonably be displayed or symbolized on a picture card. PECS works well in the home or in the classroom.
A Social Story accurately describes a context, skill, achievement, or concept according to specific defining criteria. These criteria guide the author to ensure an overall patient and supportive quality, a format, “voice,” content, and learning experience that is descriptive, meaningful, and physically, socially, and emotionally safe for the child, adolescent, or adult with autism. For more advanced communication or older children, social articles may be used.
The core of autism is the lack of social skills and an inability to understand social nuances and graces. Social skills training provides a graded, stepwise approach to train a child in the simplest of socially expected behavior, to facilitate friendships in the real world, which become a challenge for a person with autism.
Structural educational approach with explicit teaching and formulation of individualized education plans is important for every child with autism.
TEACHH – Treatment and education of Autistic and related Communication-handicapped Children. It involves an array of teaching or treatment principles and strategies based on the learning characteristics of individuals with ASD, including strengths in visual information processing, and difficulties with social communication, attention, and executive function. Structured TEACCHing is not a curriculum, but instead is a framework to support the achievement of educational and therapeutic goals. This framework includes:
Physical organization Individualized schedules Work (Activity) systems Visual structure of materials in tasks and activities.The goal of Structured TEACCHing is to promote meaningful engagement in activities, flexibility, independence, and self-efficacy.
Occupational therapists use sensory integration therapy to help a child with autism play like other children. Sensory integration therapy involves placing a child in a room specifically designed to stimulate and challenge all of the senses. Sensory integration therapy is based on the assumption that the child is either overstimulated or understimulated by the environment. Therefore, the aim of sensory integration therapy is to improve the ability of the brain to process sensory information so the child will function more adaptively in his/her daily activities.
Some evidence of CBT for anxiety and anger management in the high functioning youth with ASD
Animal-assisted therapy, particularly the use of trained dogs, has been gaining increasing popularity. The premise that a nonverbal bond with the animal, can facilitate the release of oxytocin, and thereby improve social skills and bonding, as well as build empathy; forms the basis of this therapy [ Table 7 ].
Overview of Non-pharmacological approaches for ASD
Medication is indicated if the child is unresponsive to nonpharmacological intervention or when the behavior has a negative impact on functioning. In cases when the problem behavior is responsive to medication, it is with the understanding it is symptomatic treatment, not a cure and not a substitute for appropriate behavior and education programming.
Atypical antipsychotics, particularly risperidone and aripiprazole, are effective in reducing irritability, stereotypy, and hyperactivity. Methylphenidate is effective in reducing ADHD symptoms.
Atomoxetine and alpha-2 agonists appear effective in reducing ADHD symptoms. Selective Serotonin Reuptake Inhibitors (SSRI's) are not effective in improving repetitive behaviors in children with ASD, and in fact, frequently cause activating adverse events. Efficacy of antiepileptic drugs is inconclusive. Newer agents, including glutamatergic agents and oxytocin, appear promising albeit with mixed results.
Serious behavioral disturbance (irritability) involving severe tantrums, aggression, and self-injury is frequent in ASD. A multimodal approach is used in the management of irritability in ASD. Individuals with mild irritability may benefit from treatment with an α-2 adrenergic agonist. Risperidone and aripiprazole are the only two FDA–approved atypical antipsychotics medications for irritability in children and adolescents with autism. Evidence to date has been mixed regarding the effectiveness of other pharmacologic agents for irritability in ASD. Research into the pharmacotherapy of serious behavioral disturbance is needed to develop more effective and better-tolerated treatments.
Psychopharmacological treatment of core and associated symptoms in ASD is challenging [ Table 8 and Figure 2 ]
