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From Concern to Condition
A research-based approach to
Medical Diagnosis
Jaruwan Kittisopit,M.D.
Developmental and Behavioural Pediatrician
Jom Choomchauy, M.D.
Child and Adolescent Psychiatrist
20 September 2013, Bangkok
Disclosure
 The speakers have no financial relationships
with or commercial interests in any products
discussed in this presentation.
Presentation Objective
• Introduction to research-based approach to
medical diagnosis in the field of
neurodevelopmental and neuropsychiatry.
Concerns?
Delays, Deviation, Advance,
Regression, Disequilibrium :
• Developmental milestones : GM,FM,LA,VR,SO,ADL
• Behaviors
• Mental & Emotional state
• Learning & Academic achievements
• Family issues
Combinations!
Significant Concerns?
Consideration
 Norm : Age
Ethnicity
 Individual profile / baseline of
development/temperament
 Cultural variations
 Onset, Severity, Duration, Progression ?
 Functional impairment?
 Different settings ?
 Red Flags : Early signs
Significant Concerns?
Functional Impairment:
Symptoms & Signs cause clinically
significant impairment, negatively
impact, interfere with or reduce
social, academic, occupational or other
important areas of current functioning.
Medical Approach
• History taking
• Physical examination
• Developmental & Mental status examination
• Further Investigations:
Laboratories
Formal Assessments
Signs & Symptoms(S/S) Work up  Dx PlanRx
Pediatric Approach
• A child as a whole
person : p/db/m
• A child as a part of
Family system
• Source of information:
primary & secondary
client
caregivers
3rd party: school,
agency, community
Research & Clinical Application
Evidence-based practice
Study designs?
Research & Clinical Application
Evidence-based practice
Classification of Research /study
Retrospective , Cross-sectional, Prospective study
Exploratory, Descriptive study , Analytical study
Observational , Interventive study
Case report, Case series, Case-control
RCT : randomized, double blind,(cross over), trial
Clinical trials
Epidemiologic study
Genetic study
Psychometric validity study
Concern  Condition ??
Conditions?
• Neurodevelopmental conditions
• Neuropsychiatric conditions
• Brain Functions : Complex capacity , Overlapping
• Neuro—Neurons—Neurotransmitters—
Connectome—Genome
• Genotype & Phenotype
• 1 phenotype…many genes
• 1 gene many phenotypes
• Developmental/Behavioral/Mental/Learning
• Norm/variation/deviations/CONDITIONS
• Multifactor : Nature & Nurture
• SYNDROME
• SPECTRUM
BIO-PSYCHOSOCIAL Model
• Biology : Brain function, Genetic,
Temperament, Brain trauma, Toxin, Infection,
Nutrition etc.
• Psychosocial: Parenting, Experience, Character
& Personality, School, Peers, Community,
Culture etc.
Bio-Psychosocial Interaction
Case Vignette:NC
A 13 years old South American girl with history of depressed
mood for 2 months
Symptoms
• Depressed mood, lonely
• Negative thoughts
about herself
• Difficulty concentrating
• Lethargy, Loss of Energy
• Guilty feeling
• Irritability and agitation
Symptoms
• Sense of Inferiority
• Suicidal ideation
• Emotionally sensitive
• Social anxiety
• Paranoid ideation
• Auditory hallucination
Clinical Approach
• Clinical Evaluation and Psychological tests
• Diagnosis: Major Depressive Disorder, Severe
with Psychotic Features
• Plan
– Ongoing monitoring and Follow up sessions
- Medication
- Psychotherapy
- Music Therapy
- Family Intervention
- School Consultation and Clinical Liaison
depressed mood
loss of happiness (joy)
loss of interest/pleasure
loss of energy/enthusiasm
decreased alertness
decreased self-confidence
reduced
positive affect
+
+
+
+ +
normal
mood
depressed mood
guilt/disgust
fear/anxiety
hostility
irritability
loneliness
increased
negative affect
-
- - -
-
Match Each DSM IV Diagnostic Symptom for a Major Depressive
Episode to Hypothetically Malfunctioning Brain Circuits
S
NA
PFC
BF
A
H
Hy
T
NT
SC
C
psychomotor
fatigue (physical)
pleasure
interests
fatigue/
energyconcentration
interest/pleasure
psychomotor
fatigue (mental)
guilt
suicidality
worthlessness
mood
guilt
suicidality
worthlessness
mood
sleep
appetite
fatigue (physical)
psychomotor
Categorical & Dimensional Model
• Categorical model: Symptoms Categories,
DSM IV
• Dimensional model: Functioning level,
Severity, Continuum
• DSM-5— Incorporate Dimensional Model and
Categorical model!
Case Vignette : JK
• JK: 5-year Thai boy, 1st language is Thai, English is 2ndlanguage for 3
years since entered an International school :
• School concerned of his aloofness, preferred to talk and play with
particular peers and toys and often had conflicts.
• Sometimes he appeared to show no sympathy to peers looking on
when peers cried after their fights. He rarely spoke in English but
appeared to understand however would often ask the same
questions again and again to TA in Thai.
• Parents disagreed with school but were aware of his shyness
especially in new situations: he is easily worried about whether he
did things wrong and would often drift away during homework. He
is a very talkative boy, curious and creative at home.
• He enjoys playing with other kids but has few chances to join them
due to his schedule. Mostly after school he would be dropped off at
his mother’s office and spend time playing with an ipad.
Case Vignette : JK
• JK: 5-year Thai boy, 1st language is Thai, English is 2ndlanguage for 3 years since entered an
International school :ESL : English as Second Language
• School concerned of his aloofness, preferred to talk and play with particular peers and toys
and often had conflicts.
• Sometimes he appeared to show no sympathy to peers looking on when peers cried after
their fights. He rarely spoke in English but appeared to understand however would often ask
the same questions again and again to TA in Thai. Social and Communication and
Play skills concerns from school
• Parents disagreed with school but were aware of his shyness especially in new situations: he
is easily worried about whether he did things wrong and would often drift away during
homework. He is a very talkative boy, curious and creative at home. Parents had
different perspective. Slow to warm up temperament, Creative ,
curious, but anxious and distractible
• He enjoys playing with other kids but has few chances to join them due to his schedule.
Mostly after school he would be dropped off at his mother’s office and spend time playing
with an iPad. Able to socialize with same age peers in familiar
situations, under-exposure to child-plays
Case Vignette : JK 5-yr boy
• ESL
• Social and Communication and Play skills
concerns from school
• Parents had different perspective : Slow to
warm up temperament, Creative , curious,
but anxious and distractible
• Able to socialize with same age peers in
familiar situations
• Under-exposure to child-plays
What’s next?
• Gather more information from different perspectives
: client, parents, school and other professionals in
order to get to know a child’s profile : ability,
strengths and needs , in order to provide suitable
and appropriate interventions
• Evaluation :Clinical & Formal
• Assessment: Diagnostic & Follow up
– Developmental & Behavioral
– Psychoeducational
– Neurodevelopmental / Neuropsychological
– Speech& Language
– Physio/Occupational
Case Vignette: JK 5-yr boy
• Clinical assessment: parent clinical interview,
play-based developmental evaluation /MSE
• Diagnostic evaluation:
ADI-R, ADOS,
Mullen Scales, NEPSY-II (AT/EF, SP:ToM,AR)
School vdo, school visit
Questionnaires: SDQ, SNAP-IV,PDDSQ
So, Does Diagnosis Matter?
Why?
• Universal Language among professionals
• Practice Guidelines/Road map: for
Intervention , Counseling, Prognosis
• Strengths & Needs
• Future Research : etiology ,
specific treatment, course,
prognosis
Questions?
Thank you

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From Concerns to Conditions 013 print_edition- jom and jaruwan

  • 1. From Concern to Condition A research-based approach to Medical Diagnosis Jaruwan Kittisopit,M.D. Developmental and Behavioural Pediatrician Jom Choomchauy, M.D. Child and Adolescent Psychiatrist 20 September 2013, Bangkok
  • 2. Disclosure  The speakers have no financial relationships with or commercial interests in any products discussed in this presentation.
  • 3. Presentation Objective • Introduction to research-based approach to medical diagnosis in the field of neurodevelopmental and neuropsychiatry.
  • 4. Concerns? Delays, Deviation, Advance, Regression, Disequilibrium : • Developmental milestones : GM,FM,LA,VR,SO,ADL • Behaviors • Mental & Emotional state • Learning & Academic achievements • Family issues Combinations!
  • 5. Significant Concerns? Consideration  Norm : Age Ethnicity  Individual profile / baseline of development/temperament  Cultural variations  Onset, Severity, Duration, Progression ?  Functional impairment?  Different settings ?  Red Flags : Early signs
  • 6. Significant Concerns? Functional Impairment: Symptoms & Signs cause clinically significant impairment, negatively impact, interfere with or reduce social, academic, occupational or other important areas of current functioning.
  • 7. Medical Approach • History taking • Physical examination • Developmental & Mental status examination • Further Investigations: Laboratories Formal Assessments Signs & Symptoms(S/S) Work up  Dx PlanRx
  • 8. Pediatric Approach • A child as a whole person : p/db/m • A child as a part of Family system • Source of information: primary & secondary client caregivers 3rd party: school, agency, community
  • 9. Research & Clinical Application Evidence-based practice Study designs?
  • 10. Research & Clinical Application Evidence-based practice Classification of Research /study Retrospective , Cross-sectional, Prospective study Exploratory, Descriptive study , Analytical study Observational , Interventive study Case report, Case series, Case-control RCT : randomized, double blind,(cross over), trial Clinical trials Epidemiologic study Genetic study Psychometric validity study
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  • 18. Conditions? • Neurodevelopmental conditions • Neuropsychiatric conditions • Brain Functions : Complex capacity , Overlapping • Neuro—Neurons—Neurotransmitters— Connectome—Genome • Genotype & Phenotype • 1 phenotype…many genes • 1 gene many phenotypes • Developmental/Behavioral/Mental/Learning • Norm/variation/deviations/CONDITIONS • Multifactor : Nature & Nurture • SYNDROME • SPECTRUM
  • 19. BIO-PSYCHOSOCIAL Model • Biology : Brain function, Genetic, Temperament, Brain trauma, Toxin, Infection, Nutrition etc. • Psychosocial: Parenting, Experience, Character & Personality, School, Peers, Community, Culture etc.
  • 21. Case Vignette:NC A 13 years old South American girl with history of depressed mood for 2 months Symptoms • Depressed mood, lonely • Negative thoughts about herself • Difficulty concentrating • Lethargy, Loss of Energy • Guilty feeling • Irritability and agitation Symptoms • Sense of Inferiority • Suicidal ideation • Emotionally sensitive • Social anxiety • Paranoid ideation • Auditory hallucination
  • 22. Clinical Approach • Clinical Evaluation and Psychological tests • Diagnosis: Major Depressive Disorder, Severe with Psychotic Features • Plan – Ongoing monitoring and Follow up sessions - Medication - Psychotherapy - Music Therapy - Family Intervention - School Consultation and Clinical Liaison
  • 23. depressed mood loss of happiness (joy) loss of interest/pleasure loss of energy/enthusiasm decreased alertness decreased self-confidence reduced positive affect + + + + + normal mood depressed mood guilt/disgust fear/anxiety hostility irritability loneliness increased negative affect - - - - -
  • 24. Match Each DSM IV Diagnostic Symptom for a Major Depressive Episode to Hypothetically Malfunctioning Brain Circuits S NA PFC BF A H Hy T NT SC C psychomotor fatigue (physical) pleasure interests fatigue/ energyconcentration interest/pleasure psychomotor fatigue (mental) guilt suicidality worthlessness mood guilt suicidality worthlessness mood sleep appetite fatigue (physical) psychomotor
  • 25. Categorical & Dimensional Model • Categorical model: Symptoms Categories, DSM IV • Dimensional model: Functioning level, Severity, Continuum • DSM-5— Incorporate Dimensional Model and Categorical model!
  • 26.
  • 27. Case Vignette : JK • JK: 5-year Thai boy, 1st language is Thai, English is 2ndlanguage for 3 years since entered an International school : • School concerned of his aloofness, preferred to talk and play with particular peers and toys and often had conflicts. • Sometimes he appeared to show no sympathy to peers looking on when peers cried after their fights. He rarely spoke in English but appeared to understand however would often ask the same questions again and again to TA in Thai. • Parents disagreed with school but were aware of his shyness especially in new situations: he is easily worried about whether he did things wrong and would often drift away during homework. He is a very talkative boy, curious and creative at home. • He enjoys playing with other kids but has few chances to join them due to his schedule. Mostly after school he would be dropped off at his mother’s office and spend time playing with an ipad.
  • 28. Case Vignette : JK • JK: 5-year Thai boy, 1st language is Thai, English is 2ndlanguage for 3 years since entered an International school :ESL : English as Second Language • School concerned of his aloofness, preferred to talk and play with particular peers and toys and often had conflicts. • Sometimes he appeared to show no sympathy to peers looking on when peers cried after their fights. He rarely spoke in English but appeared to understand however would often ask the same questions again and again to TA in Thai. Social and Communication and Play skills concerns from school • Parents disagreed with school but were aware of his shyness especially in new situations: he is easily worried about whether he did things wrong and would often drift away during homework. He is a very talkative boy, curious and creative at home. Parents had different perspective. Slow to warm up temperament, Creative , curious, but anxious and distractible • He enjoys playing with other kids but has few chances to join them due to his schedule. Mostly after school he would be dropped off at his mother’s office and spend time playing with an iPad. Able to socialize with same age peers in familiar situations, under-exposure to child-plays
  • 29. Case Vignette : JK 5-yr boy • ESL • Social and Communication and Play skills concerns from school • Parents had different perspective : Slow to warm up temperament, Creative , curious, but anxious and distractible • Able to socialize with same age peers in familiar situations • Under-exposure to child-plays
  • 30. What’s next? • Gather more information from different perspectives : client, parents, school and other professionals in order to get to know a child’s profile : ability, strengths and needs , in order to provide suitable and appropriate interventions • Evaluation :Clinical & Formal • Assessment: Diagnostic & Follow up – Developmental & Behavioral – Psychoeducational – Neurodevelopmental / Neuropsychological – Speech& Language – Physio/Occupational
  • 31. Case Vignette: JK 5-yr boy • Clinical assessment: parent clinical interview, play-based developmental evaluation /MSE • Diagnostic evaluation: ADI-R, ADOS, Mullen Scales, NEPSY-II (AT/EF, SP:ToM,AR) School vdo, school visit Questionnaires: SDQ, SNAP-IV,PDDSQ
  • 32. So, Does Diagnosis Matter? Why? • Universal Language among professionals • Practice Guidelines/Road map: for Intervention , Counseling, Prognosis • Strengths & Needs • Future Research : etiology , specific treatment, course, prognosis
  • 33.

Notas del editor

  1. Example 2-years old toddler who is on-the-go vs 7 year old , He is easily distract, forgetful to the point that miss his assignment bu t not drop hi sgrade however he felt bad about himself..effect to self is the most important..
  2. In our field , this is the same , but it is a soft signs, like a software instead of hardware problemsSoftware conditions not the hardware problemsNeeds to be objectives, however not many tools availableNew technology out, however not yet accessible in Thailand and still needs clinical judgementWe do not use LABS as Dx but we combine HX, PE, IX to dx, plan of Rx, to predict long term outcomee.g. NEBA for ADH
  3. Example :SecretinGFCF diet ADHD Rx
  4. Connectome: new technology A connectome is a comprehensive map of neural connections in the brain.The production and study of connectomes, known as connectomics, may range in scale from a detailed map of the full set of neurons and synapses within part or all of the nervous system of an organism to a macro scale description of the functional and structural connectivity between all cortical areas and subcortical structures. The term "connectome" is used primarily in scientific efforts to capture, map, and understand the organization of neural interactions within the brain. One such effort is the Human Connectome Project, sponsored by the National Institutes of Health, whose focus is to build a network map of the human brain in healthy, living adults. Another was the successful reconstruction of all neural and synaptic connections in C. elegans (White et al., 1986,[1]Varshneyet al., 2011[2]). Partial connectomes of a mouse retina [3] and mouse primary visual cortex [4] have also been successfully reconstructed. Bock et al.'s complete 12TB data set is publicly available at Open Connectome Project.
  5. Nerve cells (i.e., neurons) communicate via a combination of electrical and chemical signals. Within the neuron, electrical signals driven by charged particles allow rapid conduction from one end of the cell to the other. Communication between neurons occurs at tiny gaps called synapses, where specialized parts of the two cells (i.e., the presynaptic and postsynaptic neurons) come within nanometers of one another to allow for chemical transmission. The presynaptic neuron releases a chemical (i.e., a neurotransmitter) that is received by the postsynaptic neuron’s specialized proteins called neurotransmitter receptors. The neurotransmitter molecules bind to the receptor proteins and alter postsynaptic neuronal function. Two types of neurotransmitter receptors exist—ligand-gated ion channels, which permit rapid ion flow directly across the outer cell membrane, and G-protein–coupled receptors, which set into motion chemical signaling events within the cell. Hundreds of molecules are known to act as neurotransmitters in the brain. Neuronal development and function also are affected by peptides known as neurotrophins and by steroid hormones
  6. Nature and Nuture interactionEpigenetic: It refers to functionally relevant modifications to the genome that do not involve a change in the nucleotide sequence. Examples of such modifications are DNA methylation and histone modification, both of which serve to regulate gene expression without altering the underlying DNA sequence. Gene expression can be controlled through the action of repressor proteins that attach to silencer regions of the DNA. These changes may remain through cell divisions for the remainder of the cell's life and may also last for multiple generations. However, there is no change in the underlying DNA sequence of the organism;[2] instead, non-genetic factors cause the organism's genes to behave (or "express themselves") differently
  7. She wants to get better, not hopeless. NC realizes that she has family who care for her. She was able to see her strength even though a bit unsure feeling!
  8. Dyspnea example: asthmatic attack, CHF, Pneumia, Metabolic DKAAcademic underachievement: low intelligence, SLD, ADHD, mood-Anxiety,MDD, or just bored, genius but bored OR Acedemic mismatched !!!