Clinical practice guidelines for autism spectrum disorders

Abstract

INTRODUCTION 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 5th 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].Table 1: Diagnostic and statistical manual of mental disorders -IV-TR versus diagnostic and statistical manual of mental disorders - 5MAJOR CHANGES TO THE DIAGNOSTIC AND STATISTICAL MANUAL OF MENTAL DISORDERS-5, AUTISM DIAGNOSTIC CRITERIA Category name changed from PDDs to ASDs The inclusion of sensory differences in criteria 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-10th 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].Table 2: Change in the classification of autismThus 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. PROCESS OF ASSESSMENT 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.Figure 1: Approach to assessment of autismBeyond 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 3 and 4].Table 3: Early symptomatic biomarkers for detection of autismTable 4: Modified checklist for autism in toddlers revised scoringThe 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 SCORING ALGORITHM 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: Low-risk 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. Medium-risk 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. High-risk 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 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 Diagnostic tools 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].Table 5: Summary of selected assessment instruments for autism spectrum disorderAlternatively, 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. ADDITIONAL ELEMENTS OF AUTISM SPECTRUM DISORDER ASSESSMENT 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 in adults with as an intellectual of the from members of the multi-disciplinary team will help to the diagnosis of autism. 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