BREAKING THE MAZE OF AUTISM

Autism is the new public health challenge on the horizon. We rather than having a disability approach should now start focusing on the capability approach towards the ASD (Autism Spectrum Disorder) child. The mortality data from year 2008 to 2018 on under 5years of age has probably shown a decline which is definitely praiseworthy. The few clinical endpoints of any ASD children are difficulties with social communication/ interaction and restricted /repetitive behaviours or interests……
By Team Double Helical

Keeping such brainstorm ideas in mind a public health lecture on Autism Spectrum Disorder (ASD) was organized recently by Media and Protocol Division in collaboration with Center of Excellence & Advanced Research on Childhood Neurodevelopmental disorders, Child Neurology Division, Department of Pediatrics, AIIMS, New Delhi to focus on what is autism, what are the symptoms and how it is diagnosed and what are the associated co-morbidities?

The public health lecture converged on breakingthe maze of ASD with special focus on inclusive quality education for all.

The key thrust areas of the Center of Excellence & Advanced Research for Childhood Neurodevelopment Disorders, proposes to enhance the research and knowledge at diverse levels.

According to health experts, the ASD can be diagnosed as early as 12-18 months age and is a Neuro developmental disorder. According to the 2020 CDC and 2022 WHO global statistical data, 1 in 44 people and 1 in 100 people are diagnosed with ASD.

The features of Autism Spectrum Disorder are not similar in all individuals and the severity is also not uniform. In child neurology division, we have screened more than 1800 ASD patients; of which almost 80% had one or more associated co-morbidities. Children with ASD and their caregivers, as well as siblings have impaired quality of life as compared to typically developing children. Degree of impairment of quality of life of ASD children and caregiver has strong to moderate negative correlation with severity of autism, their behavioral comorbidities and development quotient. ASD children with hyperactivity and sleep disturbance have more impaired quality of life as compared to their counterparts. Caregivers of ASD children have more parenting stress and degree of parenting stress has strong positive correlation with autism severity. A holistic scrupulous approach is necessary for best outcome.

The various approaches of research being carried out include Artificial intelligence, virtual reality, blood heavy metal levels, quantitative EEG, training modules, weighted compression vest, metagenomics, sperm epigenome, polysomnography, developing diagnostic tools, methylation markers, miRNomics, diet based interventions, probiotics, alternative Augmentative Communication, Robotics, Brain Machine Interface, exome sequencing, CGH array and molecular biomarkers leading to improved diagnostic and therapeutic outlook for better clinical implications.

Under the laurels and mentorship of experts the child neurology division has developed specialty in academics, clinical care (laboratory investigations), patient education/ awareness, research, advocacy and public health domains.

The public health lecture had highlights and inspirations from multiple experts; including policy makers, educators, skill developers, pediatric neurologists, pediatricians, clinical psychologists, scientists, occupational therapist, physiotherapists and other paramedical experts.

Few of the other highpoints of the public health lectures were launch of “Parent Advocacy Group” and release of informative pamphlets and booklets for health care professionals, caregivers and patients.

Dr. Randeep Guleria, Director, AIIMS, New Delhi, addressed the public and stated about the ongoing achievements of the institution along with special emphasis on the glories of Child neurology division. He also pointed out the division is being aggressively approaching holistic infrastructure for special need children and their inclusion in the society.

Dr Randeep Guleria also emphasized that there is a need to look at the challenges in both Rural and Urban setting. In the present setting we don’t have many trained professionals, who can take care of special need children. One should look forward and educate themselves making the society more acceptable towards the special need children.

Dr. Arvind Bagga, HOD, Department of Pediatrics, AIIMS, New Delhi emphasized on the need for having public health lectures and the importance of the pediatrics department and the child neurology division in delivering services to the patients/caretakers and healthcare professionals. He also thanked the participation of the public both Online and offline.

Dr. Subrata Sinha, Dean, Research, AIIMS, New Delhi, mentioned about the value of quality research in AIIMS, which has been boon for exploiting all the therapeutic areas in starting from a molecular level to a medical device. It was also stated the academic clinical trials though conducted in a conservative manner gives us complementary data to serve better in the clinical settings.

According to Dr. Subrata Sinha, the research platforms should be fully utilized for better outcome having high translational values in the clinical settings. One should focus on the maximum potential of the child and give the child all possible available resources. Personalized attention and research would be more beneficial in children with ASD.

Dr. Sheffali Gulati, Professor and Faculty Incharge, Centre of Excellence & Advanced Research for Childhood Neurodevelopmental Disorders, AIIMS, New Delhi, said, “Autism is the new public health challenge on the horizon. We rather than having a disability approach should now start focusing on the capability approach towards the ASD child. The mortality data from year 2008 to 2018 on under 5years of age has probably shown a decline; which is definitely praiseworthy. The few clinical endpoints of any ASD children are difficulties with social communication/ interaction and restricted /repetitive behaviors or interests. Screening and identification of neurodevelopment disorders and behavioral/ emotional problems encompasses a greater capacity to deal with the developmental disabilities, metabolic disorders, sensory concerns and behavioral and emotional problems. The CDC and WHO data suggestive of increased number of ASD cases are a huge concern. The overall estimated prevalence of any neurodevelopmental disorder (NDD) in age bracket of 2-9 years in India is 12% and ~22% of these have more than one associated NDDs.”

According to Dr. Sheffali Gulati, the etiology of the NDDs is still very unclear, but many of the research done, targets the environmental/prenatal factors, epigenetic factors and genetic factors foe the disease pathogenesis. The child neurology division has been constantly working for the ASD patients and few of the highlights are:

AIIMS modified INDT tool based on DSM5 & in consonance with ICD11
Development and validation of DSM5 based diagnostic tool
Rastriyabalswasthyakaryakram
Mobile apps
DSM-5 diagnostic criteria – use with specifiers & severity level; Gold standard Diagnostic tools: ADOS-2, ADI-R
E-modules for healthcare professionals
Technology to guide ASD
Oral probiotics supplementation in children with Autism Spectrum disorders (ASDs): a randomized double blind, placebo controlled trial
Blood heavy metal levels and quantitative EEG correlates in children with autism
To explore the association of Molecular, Genetic and Environmental markers in ASD and other Neurodevelopmental Disorders including ADHD and Cerebral Palsy: A cross sectional study
COMPASS: Communication-focused parent-mediated treatment for ASDS in South Asia trial (Site PI) (University of Manchester and Sangath)
Development & validation of a scalable mobile platform for screening of developmental neuropsychiatric disorders in low-resource settings START-Screening Tools for Autism Risk using Technology
Role of Artificial Intelligence (AI) In Autism Spectrum Disorder
Robot assisted therapy for children with autism spectrum disorder
Alternative augmentative communication: ASD
AI based BCI framework
Machine based learning in ASD
Start- screening tools: autism risk using technology
EIRA: eye-tracking assessment for children with ASD
A PCR&metagenomicapproach of gut microbiota
Research based on stem cell & microglia
Music therapy
Research on HRQoL of caregivers of ASD children with various associated factors
Web- based platform for wider access to remote parts of the country: empowerment of professionals/ parents
Various Neurodevelopmental disorders; Training material for master trainers in ASD Developmental assessment made simple… checklist…mobile app
Training of Master TrainersAug/ Sep 2016, Feb 2017, April 2017,April 2018
Launch of National Child Neurology Helpline and Tele-Consultation Services for Childhood Neurodevelopmental Disorders
Bilingual Learning Resources, patient information material

With the following years we have been constantly identifying and bridging the gaps through convergence. Autism was recognized as a disability as per GOI in 2016 and the first disability certificate was issued on 28th Apr 2016.

One of the biggest achievement was creation of Center of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders on 1st December, 2017 under the aegis of IIFCL; CSR program. With a humanistic and holistic approach, we are aimingand focusing towards de-stigmatization, with an equitable outlook towards the children with special need.

P.R. Jaishankar, Managing Director, IIFCL praised the commendable work done by child neurology division for the children with special needs. The young generations at IIFCL are facing neurological/ neurodevelopmental issues with their wards. Environment, social surrounding and lifestyle plays an important role and is important for the children with special needs. IIFCL is an organization is into financing infrastructures including social and medical infrastructures. We are focusing on health and education and are happy to be a part of corporate social responsibility (CSR) supporting Center of excellence (COE) and Advanced Research for Childhood Neurodevelopmental Disorders. CSR believes in supporting the initial platform, so as the results can be fruitful in building a sustainable strategic business model for clinical settings. Budgetary support is very important for sustainable business model, so as the outreach can be available to the economically lower strata children. The support to COE gives lot of impetus to multi-centric approach and clinical trials targeting diagnostic, prognostic and therapeutic challenges. Discussion have been initiated with AIIMS and health ministry to support these sustainable quality treatment and hybrid model; which can be available to all.

Dr.Shamika Ravi, Vice President, Observer Research Foundation, talked about being in constant touch with child having a high functioning ASD. She mentioned that at the services which are available now is really a boon for children with special need in the community. There is a requirement of robust policiesin place to support the various platforms under the COE. Child neurology division is at the forefront for new experimentation and imparting knowledge. Dr.Shamika Ravi, said, “It becomes our responsibility to educate the government to enact and implement the law rightfully for the benefits of the people. The interventions have to be continuous and definitely take a longer time than just the monetary investment. The family, sibling and social environment plays a great rolein rearing true cost for an ASD family member, it is also reported that 70% of the mothers of ASD children are clinically depressed. As a society, it is our responsibility to extract the best potential of the ASD child and to give maximum opportunity for developing the same. The maximum load for taking care of the child becomes a responsibility of mother in an Indian society. With the urbanization and the increase in nuclear families, women have been pushed inside the four walls of home and subsequently the rearing and bearing the cost of upbringing the child (Normal/special need) is solely on mother. In India, we do have the policies in place, but the awareness amongst the public is minimal. The funding has to be generous so as the kind of research undertaken under the umbrella of COE can benefit the special need children. Further it is the responsibility of Government, general public to think towards rehabilitation of special need children. In Bangalore and Chennai, few centers are providing vocational training to ASDs children, so as they can become more and more independent.”

Dr. Prashant Jauhari, Associate Professor, AIIMS, New Delhi, focused on what is autism, what are the symptoms and how it is diagnosed and what are the associated co-morbidities? He described the typical onset is before the age of 36 months and the main difficulties faced are qualitative impairment of social interaction, Stereotypical, ritualistic, repetitive, restrictive patterns of interests, behaviors and activities and major defects in language development andother communication skills. It is important to diagnose the symptoms early and should always see forabsence of babbling by 12 months, Gesturing (e.g., pointing, waving bye-bye) by 12 months, Single words by 16 months, two-word spontaneous (not just echolalic) phrases by 24 months or loss of any language or social skills at any age and further to should have a clinical opinion. Additionally, one should look for lack or impaired eye contact, imitation, joint attention gestures, social interest and social play and use of language for social purposes. The diagnosis is purely clinical by the use of tool, DSM, on confirmation Childhood Autism Rating Scale (CARS) is used for severity. He also mentioned few of the salient diagnostic features in social communication domain are impaired ability to initiate or sustain a conversation, echolalia and pronominal reversal (substituting ‘I’ for “you’ or vice-versa), may not be able to understand or use gestures and delayed / absence of proto-declarative pointing. He also mentioned the comorbidities are psychiatric disorders, intellectual disability, epilepsy, vision/hearing problems, behavioral disorders, feeding disturbances, sleep disturbance, abnormalities of mood, sensory deviance and hyperactivity. He also pointed out that 40 to 80% have sleep problems, difficulty going off to sleep, frequent awakenings and decrease in total sleep time. He also referred to the study conducted by AIIMS regarding sleep problems in ASD children.

Dr. Prashant Jauhari also stated that the mechanism of Autism is still unknown, various postulates rule out to abnormal connectivity amongst the brain cells called neurons, defect in brain formation in a fetus at the microscopic level, neurotransmitter imbalance and abnormal mirror neurons. He also justified the roles of MRI, EEG, genetics, and heavy-metals in ruling out the diagnosis.

Dr. Biswaroop Chakraborty, Additional Professor, AIIMS, New Delhi, presented all the necessary and critical management endpoints for ASD children. The main persons involved in the management are Family, Pediatric Neurologist, Clinical Psychologist, Geneticist and Special educator. The Psychological intervention and its principles are Modified Applied Behavior Analysis (ABA), Sensory Integration (SI) and Structured Teaching which helps in Developing Core skill, Reinforcement /Operant conditioning principles. The assessment of risk vs. benefit ratio should be ascertained prior to any supportive/ medical/ proposed treatments like atypical antipsychotics: aripiprazole, risperidone, olanzapine, clozapine (hyperactivity, temper tantrums, aggression, self-injurious behaviour). SSRIs like Fluoxetine are recommended for (anxiety and repetitive behavior); Methylphenidate is recommended for hyperactivity.

According to Dr.Biswaroop Chakraborty, the role of stem cell therapy in autism is still not very clear; it is known that Mesenchymal stem cells hold the greatest promise, but till today no suggestive studies has been reported in pre-clinical experiments. The safety data for the use of stem cells is not available few studies are undertaken in China with umbilical cord stem cells for which the results are awaited. Dietary modifications are also in practice, where preliminary reports with MCT based and Gluten free diet have shown some encouraging results, for conclusive results clinical trials should be performed. Rapamycin has been reported to show improved behavior in ASD animal models, but proven clinical studies are yet to be reported. The complementary and alternative therapy like Melatonin is recommended for sleep latency, onset and duration problems; B6 and Magnesium is known to improve social and communication skills and repetitive skills. Folic acid is prescribed and may improve expressive and receptive speech, Omega 3 fatty acids may be given for stereotypies, hyperactivity, Probiotics is recommended if associated GI problems. Exercises and music therapy can be recommended based on the clinical status. Music therapy has shown benefits in behavior, language and in overall autistic symptoms; extensive studies has been done about the type of music, timing, frequency mode of delivery and active individualized music therapy has been found more beneficial.

Dr.KanijFatemaMonami, Associate Professor, Pediatric Neurology, Bangabandhu Sheikh Mujib Medical University (BSMMU) Dhaka, Bangladesh presented the perspective in Bangladesh and stated that in 2010 there was surge in the services with the establishment of pediatric neurology division. 15 centers “Sishuvikas Kendra”, tertiary care centers and primary health care centers are dedicated for giving the services to paediatric patients with special needs. The main challenges in an LMIC as Bangladesh are availability of trained professionals, who can take care of children with ASD. In a community survey done for diagnosis of ASD, misdiagnosis was very much evident. Children with Cerebral palsy and ADHD were misdiagnosed as ASD. Early identification is another challenge in LMICs as compared to HICs. In Bangladesh Government has taken initiatives, where financial supports are given to the platforms related to not only ASD but also the other Neurodevelopmental disorders. In 2013, two acts have been implemented by government to educate and ensure the well-being of disabled people. Government as a part of social responsibility is also giving monetary support to the disabled people, who are living in poverty. In 2019 special integrated education policy was set up for providing basic education, vocational programs and rehabilitation to children with special need. In BSMMU, genetic testing is regularly done for understanding the pathology of ASD. Two apps have been launched for early screening of ASD and for verbally challenged persons. The other aspect which government is emphasizing is capacity building; has initiated a six-month certificate course for special educators, psychologists, health professionals, who will serve along with the clinical team towards the special need children. Here in Bangladesh, we are persistently doing survey in Urban and Rural populations for early detection of ASD.

U.K. Shukla Programme Director, The National Trust, Department of Empowerment of Persons with Disabilities (Divyangjan), New Delhi, mentioned, a law made and not enforced/ implemented rightly is equal to no existence of law. The recognition of Autism in India in the policies was initiated in year 2016. Four conditions are focused by the ministry of social justice and empowerment is Autism, cerebral Palsy, Intellectual disability and multiple disabilities. He emphasized that it is very crucial to observe the milestones of any child till two years of age, which can help in early identification of neurodevelopmental diseases. Till today we don’t have any cure and the best approach would be to look forward with the best available interventions. He also mentioned, one should pay attention to day-to-day activities like toilet training, and basic needs, should be the first step towards their independence. Few regulations related to guardianship are made under the authority of district magistrate are in place, but the lacunae lie in the understanding and the approaches of the regulations. For working parents/ special need child there is vikas day care schemes, Samarth, Gaharaunda, Niramaya andDisha are formulated. We have implemented the policies, but have we given special educators in school to undertake these challenges, the regulatory authorities should revisit and think through. The representation received from India on guardianship are varied and the policy makers are still looking forward for the corrections and further implantation.

Till today we do not have any scheme which looks into the integral matter of disability in totality. The national trust along with the other regulatory authorities is looking forward for development of robust schemes. The skills should be developed so as the special need child can think himself/herself as a participating member rather than burden. The central government employees should enrol their special need child, so as they can avail full pension, as-n-when they are eligible.