Autism spectrum disorder – current concepts and future prospects

Administrator: Pratibha Singhi, India

Dr Constance Smith-Hicks
Medical Director, Center for Autism and Related Disorders, Kennedy Krieger Institute Assistant Professor of Neurology Johns Hopkins Univ SOM
hicksc@kennedykrieger.org
Current concepts in the etiology and neurobiology of ASD
Despite continued increase in the prevalence of autism spectrum disorder (ASD), a universally agreed upon etiology is lacking. The consensus based on strong evidence for the role of antenatal and prenatal factors including genetic and epigenetic factors is that autism is not just clinically heterogeneous but is also etiologically heterogeneous. An interaction between genetics - both rare and common genetic variants as well as environmental insults that occur early in development appear to have system level impacts and result in autism. Research on ASD pathophysiology has also focussed on systemic processes, including prenatal stress and maternal immune dysregulation, alterations in the foetal immune system, changes in immune modulators, such as gut dysbiosis and increased gut permeability possibly leading to gut-driven modulation of amygdala development. In this talk, we will discuss the current concepts regarding the neurobiological basis of ASD from the bedside to the bench and back. We will discuss the role of genes, pathways, circuits, and systems as well as epigenetics involved in the pathophysiology of ASD

Prof. Pratibha Singhi
Director Pediatric Neurology and Neurodevelopment Medanta, The Medicity, Gurgaon, Haryana, India
doctorpratibhasinghi@gmail.com
Early Diagnosis of autism spectrum disorders (ASD) -Practicalities and Research
Early diagnosis of ASD is extremely important as early interventions have been shown to be very effective for children with ASD. However considerable delays still exist in the diagnosis of ASD, more so in resource limited countries. Lack of awareness about early manifestations among parents, primary care physicians and pediatricians, lack of training among clinicians regarding autism specific screening and diagnostic instruments, concerns about incorrect diagnosis and poor access/ prolonged waiting times for assessment are some of the factors that lead to diagnostic delays. Increasing public awareness through mass media regarding the red flags for autism, use of simplified, culturally relevant diagnostic tools that can be administered by minimally skilled health care workers for screening and surveillance, and innovative service models could help with early diagnosis.
Research on siblings of children with ASD and in high-risk infants has characterized early behavioural characteristics of children with ASD. Advances in biomarker research including metabolomics, genetics and epigenetics has the potential for pre-symptomatic diagnosis of ASD in high-risk families. Technologically sophisticated measurement strategies such as the use of computerized algorithms derived from machine learning are other potential innovative methods. This talk will summarize important advances and practical problems related to the early diagnosis of ASD.

Dr. Samata Singhi
Director Epilepsy Monitoring Unit, Kennedy Krieger Institute Assistant Professor of Neurology Johns Hopkins Univ SOM
samata.singhi@gmail.com
Epilepsy In Children with Autistic Spectrum Disorder (ASD)- diagnostic and management issues
The relationship between epilepsy and Autistic Spectrum Disorder (ASD) is complicated. About 5 % to 46% of children with ASD develop epilepsy- which is much higher than the incidence in typically developing children. The prevalence of epilepsy is particularly higher in children with severe ASD and in those with low IQ. The risk of ASD is higher in children with epilepsy - being 46% for West syndrome and 5% for other epilepsies. Moreover, many children with ASD have epileptiform discharges without having clinical seizures. Controversy exists regarding the effects of these discharges on the neural networks of children with ASD and whether these should be treated with anti-seizure medications (ASMs) or not. Diagnosis of epilepsy in children with autism can be difficult especially in those with intellectual disability and with significant stereotypies. Also, the choice of ASMs must be carefully made especially with regards to their behavioural side effects. This talk will discuss the peculiarities of, and challenges associated with the management of epilepsy and epileptiform discharges in children with ASD.

Dr Antigone S Papavasiliou
Senior Pediatric Neurologist Iaso Children’s Hospital, Athens
theon@otenet.gr
Current Management Practices in Autism Spectrum Disorder (ASD) – Role of the Child Neurologist
Current management practices in ASD include behavioural and psycho-educational interventions, as well as, pharmaceutical treatments. The treatment plan may include Early Intervention Programs, Behavioural Interventions such as, Applied Behaviour Analysis (ABA) and other therapies, such as, Occupational Therapy, Speech Therapy, TEACCH, Social Skills Development and others, as needed. In addition, medications may be prescribed for epilepsy, sleep disorders and hyperirritability, as needed. Although there are no curative treatments available for ASD, a number of agents are being researched. A combination of therapies tailored to address the child’s specific needs is often required. The role of the child neurologist in ASD management, is important in the following areas:
a. Etiologic assessment aiming towards diagnosis of neurologic or genetic conditions underlying ASD.
b. Getting psychometric and neuropsychological assessments in order to detect strengths and weaknesses of each particular child.
c. Epilepsy diagnosis and treatment.
d. Evaluation and treatment of Sleep problems.