From Concern to ConditionA research-based approach to

Medical Diagnosis

Jaruwan Kittisopit,M.D.

Developmental and Behavioral 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 reducesocial, academic, occupational or other important areas of current functioning.

(DSM V May 2013)

Medical Approach • History taking• Physical examination• Developmental & Mental status examination• Further Investigations:

LaboratoriesFormal 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

clientcaregivers3rd party: school,

agency, community

Research & Clinical ApplicationEvidence-based practice

Study designs?

Degu G, Tessema F. ,January 2005.

Research & Clinical ApplicationEvidence-based practice

Classification of Research /studyRetrospective , Cross-sectional, Prospective studyExploratory, Descriptive study , Analytical studyObservational , Interventive study

Case report, Case series, Case-controlRCT : randomized, double blind,(cross over), trial

Clinical trialsEpidemiologic studyGenetic studyPsychometric validity study

Degu G, Tessema F. ,January 2005.

ASD : Practice Guideline (AAP 2010)

(AAP 2010)

Social and Communication Red flags

• No big smiles or other warm, joyful expressions by 6 months• No back-and-forth sharing of sounds, smiles, or other facial

expressions by 9 months• No babbling by 12 months • No back-and-forth gestures, such as pointing, showing,

reaching, or waving by 12 months • No words by 16 months • No two-word meaningful phrases (without imitating or

repeating) by 24 months • Any loss of speech or babbling or social skills at any age

Greenspan, S.I. (1999) , Filipek, P.A. et al.( 2000 )

Concern Condition ??

the WU-Minn HCP consortium: March 2013

Conditions?• Neurodevelopmental conditions

Neuropsychiatric conditions• Developmental/Behavioral/Mental/

Learning Diorders• Norm/Variation/Deviations/

CONDITIONS• 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.

Engel GL.Am J Psychiatry 1980;137:535-544 Borrell-Carrio F, Suchman AL & Epstein RM. Ann Fam Med, 2004; 2(6): 576-582

Bio-Psychosocial Interaction

Bishop DVM &Snowling MJ.Psychological Bulletin ,2004, Vol. 130, No. 6, 858–886

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

Major Depressive Disorder: Diagnostic Criteria DSM-5

5 of following symptoms, must include one of first two, occurred almost every day for two weeks

• Depressed mood• Pleasure or interest/ Loss • Appetite• Sleep disturbance, too much or too little• Agitation or retardation• Fatigue or loss of energy• Feelings of worthlessness or guilt• Difficulty concentrating or deciding• Recurrent thoughts of death

American Psychiatric Association. 2013, DSM-5

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 moodloss of happiness (joy)

loss of interest/pleasureloss of energy/enthusiasm

decreased alertnessdecreased self-confidence

reduced positive affect

++

++ +

DAdysfunction

NE

dysfunction

normalmood

depressed moodguilt/disgust fear/anxiety

hostilityirritabilityloneliness

increased negative affect

-- - -

-

NEdy

sfunc

tion

5HT

dysfunction

Nutt D etal, J Psychopharmacol July 2007 21: 461-471

Match Each DSM IV Diagnostic Symptom for a Major DepressiveEpisode to Hypothetically Malfunctioning Brain Circuits

S

NA

PFC

BF

AH

Hy

T

NT

SC

C

psychomotor fatigue (physical)

pleasureinterestsfatigue/energyconcentration

interest/pleasure

psychomotorfatigue (mental)

guiltsuicidalityworthlessness

mood

guiltsuicidalityworthlessnessmood

sleepappetite

fatigue (physical)

psychomotor

Stahl SM, Zhang L &Damatarca C & Grady M. J Clin Psychiatry 2003;64[suppl 14]:6–17)

Categorical & Dimensional Model

• Categorical model: Symptoms Categories, DSM IV

• Dimensional model: Functioning level, Severity, Continuum

• DSM-5— Incorporate Dimensional Model and Categorical model!

American Psychiatric Association. 2013, DSM-5Busko M. Why Dimensional as Well as Categorical Diagnoses Are Needed in DSM-V.Medscape Medical News; 2007, Jun 15,

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 visitQuestionnaires: SDQ, SNAP-IV,PDDSQ

Case Vignette: JK 5-yr boy

• Assessment results• Clinical Diagnosis based on

DSM-IV TR (2000) &DSM-5 (2013)

• Recommendations : Ix, Rx, F/U

• Feedback / Collaborations

ADOS-2 Mullen

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

Mens Sana Monogr. 2006 Jan-Dec; 4(1): 127–138. doi: 10.4103/0973-1229.27610

Questions?

Thank you