Hi All,
this post is continuation of “National Conference on ASD 2020” series, in this post you would find the details of First Scientific Session happened on day one. The chairperson was Prof. Sunil.K.Narayan (who delivered the Keynote address earlier in the day), below were the speakers part of this Scientific Session:
1) Dr. Roopa Srinivasan – Neurological Perspectives and Interventions
2) Dr. Vignesh Kumar – Clinical Impact on early diagnosis of Autism spectrum disorder
3) Dr. Sabari Sridhar – Psychiatric perspectives in Autism
Since there were pressed of time, all presenters were given a very limited time for their presentation, hence they rushed with the slides compromising on the content which defeated the sole purpose of the conference ..! Students did a terrible job of moving the slides of ppt deck in the laptop, they were out of sync consistently with what speaker was saying and what was displayed in the projector.
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Neurological Perspectives & Interventions by Dr.Roopa Srinivasan, Director, Developmental Pediatrics, Ummeed Child Development Center, Mumbai
She works for Non Profit Organization called Ummeed Child Development Center. Her center serves children with disabilities, children who are born with disabilities (down syndrome), children who are exposed to high risk factors such as Poverty, limited access to education, limited access to nutrition, therefore had developed a disability etc.
She said often parents come to professionals with the following areas of concern that my child:
- “Does not talk yet”,
- “Does not respond to being spoken to and yet hears the minutest of sounds of his/her choice”,
- “Does not interact with people/children around him/her”
When a professional probes further, they get to know the underlying causes such as:
- Delayed speech
- Limited Nonverbal skills to compensate for lack of speech
- Limited reciprocity, shared enjoyment during interactions
- Lack of varied play skills (esp. Pretend play skills)
- Repetitive behaviors, desire for sameness, sensory issues
She focused on the Gene interactions with the brain. Earlier they were using karyotyping which only gives a comprehensive view, whereas for the last years, they began using fluorescent in situ hybridization, which has the ability to narrow down and point towards abnormalities. Still it is a long way to find out the genetic causes. However, they know for sure that Autism is caused by Complex Genetic Inheritance factor, where there is a gene to gene interaction and also a gene to environment interaction.
By using Chromosomal Microarray Whole Exome sequencing they were able to identify another 20% of the genes that cause autism, but still 80% needs to be discovered. They are proceeding further with the Whole Genome sequencing to find the part of our genetic make-up that doesn’t change.
She spoke about Neuronal Migration disorder which means that certain cells have not found their rightful place when the fetus brain is getting developed in the Uterus.
In the first 6 months, the brain gets surrounded by a fluid called Cerebrospinal Fluid (CSF), which does a similar function of a blood where it brings nutrition to the brain and it takes away the waste products. In autism kids, this CSF fluid is found in excess ( by 18% to 25%). CSF is a rich material that promotes the growth of brain cells, it triggers rapid proliferation of cell which causes the different parts of the brain not to interact with each other. As a result, the child when grows up, does not make the inferences which a typical child would have. Children with greater abnormality in white Matter connectivity have greater Sensory Processing difficulties.
Brain constantly grows, i.e. neuro plasticity happens all the time. Toxic Stress like Poverty which brings Poor access to medication, Nutrition, health, education, etc. plays a vital role in stimulating the brain in early years.
Ideal Interventions are combination of behavioral and developmental intervention, below are few intervention approaches that are widely practiced now:
- Behavioral Interventions (ABA)
- Developmental Relationship Focused Interventions (Floor time, DIR)
- Naturalistic Developmental Behavioral Interventions (Early Start Denver)
- Parent Mediated Interventions
- Educational Interventions (TEACCH)
- Social skills Instruction
- Speech, Occupational therapy. Special education
- Co-morbidities- seizure, sleep, feeding, GI issues
- ADHD, anxiety disorders, other mood disorders
She mentioned about the broad classification of interventions that are available in today’s context, they are:
1) Symptomatic Treatment: Where we address only the symptoms presented by the child, not its cause, which is the widely followed method of intervention.
2) Biomarker based Treatment: Biomarkers relates to genetic factors and neurological factors. Very little focus is given to this type of treatment as of date.
3) Precision Medicine: This would be possible when the gene identification is complete and the neurological changes that they cause. As the research progresses, they would be able to classify children according to their gene profile and target it.
Her theory based on the research done by her team is that Autism is caused due to Genes (which i feel is the closest match from many other researches), and they are in the process of identifying and labelling genotypes that are known to cause this. Her presentation is highly technical, and its not for minds like me, however if her theory is correct does it mean that Autism is hereditary and why is that timing (Spike in number of autism kids) is so synced up across globe in last few years. What causes all the gene issues to show up all of a sudden in last few years, what is the trigger.
Her presentation is short, neat, crisp to the point, she articulated the message very well in the time allotted to her.
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Clinical Impact on Early Diagnosis of Autism Spectrum Disorder – Dr.Vignesh Kumar DM – Neonatology, MBBS, MD – Pediatrics
He is a Neonatologist, completed his DM Neonatology from Madras Medical College. Currently working as Assistant Professor at Chettinad Hospital and Research Institute. Below were few points shared by him:
Risk Factors that may contribute in having a child with ASD are:
- Genes known or Identified to cause of Disorder
- If Sibling is already diagnosed with ASD
- Increased Parental age (beyond 35 years)
- Exposure to pesticides
- Pre-term babies
- Consumption of sodium Valproate during pregnancy
- Prenatal exposure to Pesticide
- Traffic related Air Pollution
- Rubella Infection during pregnancy
As per DSM 5 criteria Children all the symptoms mentioned below are essential to be present:
- Problems with Socialization
- Difficulty using non speech behaviors for social interaction
- Lack of social or emotional responses
- Rigid functioning of non-functional routine
- Obsession with inflexible and limit interest
- Obsession with parts of objects
- Inflexible and repetitive movements
- Failure to develop relationship with Peers
- Problems in communication (difficulty in initiating or continuing a conversation for a prolonged period of time)
- Echolalia
Red Flag Signs are:
- Hand Flapping movements
- Walking on Tip Toes
- Head Banging
- Screaming in public spaces
- Biting / Aggressiveness
- Avoids eye contact
- Lack of Speech and Communication
- Problems with feeding
- Lack of Response to verbal commands
ASD Screening tools that can be used are:
- For 1 to 5.5 years, Ages and Stages Questionnaire (ASQ-3)
- For 16 to 30 months, M Chat – R/F (Modified Checklist for Autism in Toddlers – Revised/ Follow up)
- For 24 to 36 months STAT (Screening Tool for Autism in Toddlers & Young Children)
Diagnostic Tools that can be used are:
- ADOS-2 (Autism Diagnostic observation schedule second edition)
- ADI-R (Autism diagnosis intervention – Revised)
- CARS-2 (Childhood autism rating scale)
- GARS-3 (Gilliam Autism Rating Scale)
- VABS (Vineland Adaptive Behavior Scales)
Other points shared are:
- Developmental history and medical history of the child is very important.
- Parent -Professional (Rehab or Medical) relationship is important
- Support Groups for Parents is required for continuous motivation and help
- Families (entire) support is needed for the child.
His talk was very restricted to diagnosis, screening and known causes from his experience, which is due to the limited time he is presented with. Did not find any research related information from his presentation.
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Psychiatric Perspectives in Autism Spectrum disorders – Dr. Sabari Sridhar O T, M.D.
He is a psychiatrist, currently working as Associate professor – Dept. of Psychiatry in Chettinad Hospital and Research Institute. He shared the below in his presentation:
Features on Social Relatedness:
- Qualitative impairment in reciprocal social interaction
- Lack of awareness of existence of feelings in others
- No/Abnormal seeking of comfort in times of distress
- No/Impaired imitation
- No / Impaired social play
- Gross Impairment in the ability to make peer friendships
Features on Language and Communication:
- Qualitative impairment in verbal and non-verbal communication
- No mode of communication
- Abnormal nonverbal /verbal communication
- Only need based communication
- Abnormalities in content
- Impairment in abilities to initiate or sustain conversation
- Absence of imaginative activity
Features of Repertoire of Interests:
- Distress over change in trivial aspects of environment
- Insistence on following routines
- Restricted range of interests
Classic Symptoms of ASD at different age levels
During Preschool,
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- Lack of Interest in Others
- Failure in Empathy
- Difficulties in Communication
- Absent or severely delayed speech
Above 3 years,
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- Marked resistance to change
- Restricted Interests
- Stereotyped Movements
- Poor Peer Interaction
During Adolescence,
- Behavioral deterioration
- Self-stimulatory behaviors
- problems in dealing with transition
- Disruptive or compulsive behaviors
During Adulthood,
- — Persistent problems in social interaction
- — Independent Employment
- — No Friends
- — Not live independently
- — Intensive Care
Types of Disorders
- ASD
- Rett’s disorder
- Asperger’s disorder
- Childhood dis-integrative disorder
- PDD-NOS (atypical autism)
Neuro-pathological changes of autism
- Recent studies have shown that an abnormal pattern of brain growth occurs in the areas
- Cerebral cortex (mainly frontal lobe)
- Cerebellum
- Limbic structures (Hippocampus and amygdala)
- It is followed by abnormal slowness in the brain growth
- These brain regions are intimately involved in the development of social, communication and motor abilities
- Social orienting deficits in autism were linked to abnormalities in frontal brain mechanism involved in associating rewards with goal directed activity
- About 15 to 20% autistic children have macrocephaly
Cytoarchitectural abnormalities in the brains of patients with autism are
- Thickened cortex,
- High neuronal density
- Minicolumnar alterations
- presence of neurons in the molecular layer
- poor grey-white matter boundaries
These changes give the hypothesis that the primary defect in autism is the result of abnormal development of a distributed neural network
Theory of mind
- Autistic children have the inability to attribute thoughts, intentions, emotions to others
- Impairment in the comprehension or interpretation of the intention, goals, and actions of the characters
- Autistic children’s have reliably lower functional connectivity within the “Theory of Mind network”
Differential diagnosis
- Mental Retardation
- Specific Developmental Disorders
- Schizophrenia
- Selective Mutism
- Social Anxiety
- Stereotypic movement disorder
- Obsessive Compulsive Disorder
- Dementia (Childhood Onset)
- Reactive attachment disorder
- Schizoid Personality disorder
- Avoidant Personality disorder
EVALUATION PROCESS
- Historical Information
Collect Pregnancy, Labor, Delivery related information , Family History, Medical history (seizures, sensory deficits) along with developmental milestones and any regression if any, Intervention history etc.. It is critical to know when the onset or recognition was first noticed. (i.e. when were parents first concerned about the child and why were they concerned, were any aspects of the child’s early development unusual, and so forth. )
- Psychiatric Examination of the Child
- Observational settings
- interaction with parents and siblings
- levels of stress experienced by the family in response to the child’s symptoms
- effectiveness of parental interventions
- level of language and communication skills
- unusual strengths, weaknesses, or special interests
- specific problem behaviors
- Physical examination
- treatable medical conditions
- conditions with important implications for the family, e.g., inherited medical conditions such as Fragile X syndrome or tuberous sclerosis.
- immunization history, history of allergies or unusual responses to medication
- audiological and visual Examinations
- neurological Assessment
- Laboratory Studies
- no specific laboratory test for autism
- Fragile X testing
- Wood’s lamp examination for tuberous sclerosis
- genetic screening for inherited metabolic disorders or chromosome analysis
- Consultative Services
- geneticists
- pediatric neurologists
- other medical professionals
- orthopedists and respiratory therapists (Rett’s)
- Observational settings
- Psychological Assessment
- Developmental/Intelligence Testing.
- assessments of the child’s cognitive ability
- levels of function
- eligibility for services
- separate estimates of verbal and nonverbal (performance) IQ
- Developmental/Intelligence Testing.
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- Adaptive Skills
- presence of any associated mental retardation
- treatment planning
- Adaptive Skills
Formal assessments tools
- Childhood Autism Rating Scale ratings (CARS)
- Connors abbreviated scale
- Schedule of Catherine Maurice
- Checklist for Autism for Toddlers (CHAT)
- ADI-R (Autism Diagnostic Interview – Revised) – not routinely used in India
- ADOS (Autism Diagnostic Observation Schedule) – not routinely used in India
Speech-Language-Communication Assessments
- Vocabulary (Measures of single word vocabulary – Receptive and Expressive)
- Language Skills (Actual use of Language – Receptive and Expressive)
- Articulation and Oral Motor Skills (Difficulties with articulation or specific oral motor difficulties)
- Pragmatic Skills (Social use of language -communication skills)
Occupational and Physical Therapy Assessments
- sensory hyper or hypo-sensitivity
- difficulties in motor development
PSYCHO-SOCIAL INTERVENTIONS
- Educational and Vocational Interventions
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- Educational setting appropriate to the child’s needs
- behavioral interventions and special education
- vocational and pre-vocational training for adolescents -> independent or supported employment
- continued social development
- maximize capacities for independent living
- areas include teaching
- attending skills
- imitation skills
- receptive language skills
- expressive language skills
- pre-academic skills
- self-help skills
- Behavioral Interventions
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-
- behavior modification procedures and applied behavior analysis
- learning principles -> differential reinforcement
- social skills training – > enhance social competence and build social skills
- teaching social skills in real life settings
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- Family Interventions
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- support of the parents and siblings
- active involvement in assessment and treatment process
- special needs parents and siblings
- increased risk for depression or stress related illness
- positive coping strategies
- local and national resources and opportunities for parent support
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PHARMACOTHERAPY
Medicines shall be used to focus on target symptoms such as Aggressiveness, Hyperactivity, Self-Mutilation, Stereotypes, insomnia, inability to focus on tasks, seizures
- Neuroleptics – significant benefit in terms of reduced stereotype and withdrawal thus facilitating learning with side effects as sedation and irritability.
- Haloperidol – It is a second generation antipsychotics with low risk of side effects
- Serotonin Reuptake Inhibitors: Fluoxetine, Fluvoxamine, Escitalopram, Clomipramine (TCA)
- Clonidine – is an alpha-2 noradrenergic receptor agonist, it relates with hyper activity
- Methylphenidate (Ritalin) – Used for hyper activity
Alternate Medcines
- vitamin A and C
- Megavitamin therapy
- Secretin
- Oxytocin
- immunoglobulins
- steroid treatments
Somatic treatments
- ECT
- Holding therapy
- Auditory training
- Patterning therapy
His deck was exhaustive which can nowhere be completed in the given time frame. He ran through most of the slides due to lack of time, as many of the introductory slides were already covered by earlier speakers.
Regards,
Saranya and Karthikeyan
karthiksaranyaparents@gmail.com
Autism Spectrum Disorder - Personal Experiences (Chennai Family) 