A CONVERSATION ABOUT NEURODEVELOPMENT: LOST IN TRANSLATION Roberto Tuchman, M.D. Chief, Department of Neurology Nicklaus Children s Hospital Miami Children s Health System 1
1 in 6 children with developmental disability Child Development fundamentally distinguishes pediatrics from all other areas of medicine Developmental screening tests are certainly better than nothing; however, they serve merely to identify a chief complaint, not to supplant pediatric clinical judgment Voigt, R. G. and P. J. Accardo (2015). "Formal Speech-Language Screening Not Shown to Help Children." Pediatrics 136(2): e494-495.
Developmental Vector Normal Development Neurodevelopmental Disorders Regression: Loss of Skills type severity or degree developmental time Neurodegenerative Disorders
Typology/Phenotype Descriptive; group according to similar findings Pathophysiology How does the etiology lead to the clinical manifestations Etiology Causes/Risk Factors: genetic Rapin, I. J Autism Dev Disord (2014) 44:2661 2666
neurodevelopmental landscape ASD Dimensional Overlapping Diagnosis and Symptoms
Director (in Japanese, to the interpreter): "The translation is very important, O.K.? The translation." Interpreter (in Japanese, to the director): "Yes, of course. I understand." Director (in Japanese, to Bob): "Mr. Bob. You are sitting quietly in your study. And then there is a bottle of Suntory whisky on top of the table. You understand, right? With wholehearted feeling, slowly, look at the camera, tenderly, and as if you are meeting old friends, say the words. As if you are Bogie in Casablanca, saying, 'Here's looking at you, kid,' Suntory time!" Interpreter (In English, to Bob): "He wants you to turn, look in camera. O.K.?" Bob: "...Is that all he said?" Rich, Motoko (September 21, 2003). "What Else Was Lost in Translation" (https://www.nytimes.com/2003/09/21/style/ what-else-was-lost-in-translation.html
Little Boxes Thinking in boxes raises several questions: A 3 year year old with ASD presents to you for intervention what type of intervention would you recommend? The parents want to know the prognosis of their 5 year old child with a diagnosis of ASD, what will you tell them?
KEY POINTS Overlap of symptoms between ADHD and ASD The children with ADHD diagnosed first were nearly 30 times more likely to receive their ASD diagnosis after age 6 PEDIATRICS October 2015 The delay in ASD diagnosis was consistent across childhood and independent of ASD severity
Parents bring you an 8 year old with a history of motor and verbal tics for greater than one year they are concerned about the tics and behavior and they would like treatment. What are you more likely to treat? 1) Tics 2) OCD 3) ADHD
Stereotypies are: A) Self-stimulating behaviors B) Abnormal motor output to normal sensory stimuli C) Tics in individuals with intellectual disability
Neurodevelopmental Diagnostic Categories/Definitions/Labels Motor-Sensory (sensorimotor) Cognition: Social versus Non-Social Language-Communication Hyperactivity, Impulsivity, Attention Anxiety, Repetitive Behaviors (OCD), Tics/Stereotypies Developmental Milestones: Input-Output Systems
What group of milestones are most important between 12 to 24 months of life? A. Motor/Sensorimotor B. Language C. Social Communication D. Cognitive-non-social skills
Social Cognitive Processes Neurodevelopment Social cognition: broadly includes processes used to perceive, encode, store, retrieve, and regulate information about other people and ourselves. Green, M. F., et al. (2015). "Social cognition in schizophrenia." Nat Rev Neurosci
SOCIAL COMMUNICATION: Social Motivation and Social Attention Facial Emotional Recognition (FER) Theory of Mind: Reading minds; Metacognition Green, M. F., et al. (2015). "Social cognition in schizophrenia." Nat Rev Neurosci
Earliest signs of atypical social development in infants may be a decline in eye fixation starts around 2 to 6 months of age leads to reduced attention to faces and face like stimuli Social-visual engagement is under genetic influence Represents a neurodevelopmental dimensional trait Variation in social information processing skills in the general population Jones W, Klin A. Attention to eyes is present but in decline in 2-6-month-old infants later diagnosed with autism. Nature 2013 Zwaigenbaum L, Bauman ML, Stone WL, et al. Early Identification of Autism Spectrum Disorder: Recommendations for Practice and Research. Pediatrics 2015 Constantino JN, Kennon-McGill S, Weichselbaum C, et al. Infant viewing of social scenes is under genetic control and is atypical in autism. Nature 2017
Social Cognitive Diversity Google, Facebook, Facetime, and the Developing Brain Logical- Analytical Brain IQ Social- Intervention Emotional Variables Brain SQ/EQ/OCQ Neurodevelopmental Outcome
The Dimensional Aspects of ASD Traits and Features of ASD are continuous not bimodal Height, Weight, BP Arbitrary nature to diagnostic cutoff of ASD Neurodevelopmental characteristics influence social function IQ, Attention, Emotional regulation, Executive function Constantino, J. N. and T. Charman (2016). "Diagnosis of autism spectrum disorder: reconciling the syndrome, its diverse origins, and variation in expression." Lancet Neurol
Social, Non-Social Cognition, and Epilepsy Share Overlapping Circuitry Blue dot in Ventral Tegmental Area STG: superior temporal gyrus FFA: fusiform face area IFG: inferior frontal gyrus IPL: inferior parietal lobe ACC: anterior cingulate cortex mpfc: medial prefrontal cortex Green, M. F., et al. (2015). "Social cognition in schizophrenia." Nat Rev Neurosci
Disorders of Network Function Neural bases of anxiety disorders - Brooks and Stein Dialogues in Clinical Neuroscience - Vol 17. No. 3. 2015 Insula Limbic system Thalamus Richard, A. E., et al. (2017). "Features of the broader autism phenotype in people with epilepsy support shared mechanisms between epilepsy and autism spectrum disorder." Neurosci Biobehav Rev
THINKING OUTSIDE THE BOXES ASD IMPLICATIONS FOR TREATMENT Interventions not Label Driven Think bottom-up not top down
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