DM-ID-2: Growing Pains in Our Understanding of Psychiatric Disorders among Persons with ID.

JARRETT BARNHILL MD DLFAPA, FAACAP, NADD-CC

UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE

What Exactly are Psychiatric Diagnoses? Evolution of descriptive psychiatry- the idea of a categorical mode of syndrome diagnosis

Discrete syndromes versus the dimensional nature of most disorders

Minimization of etiology as a contributing factor- movement away from a psychodynamic approach to understanding mental disorders

Biology of mental disorders- evolution of genetics, molecular psychiatry, neuroimaging technologies, “personalized medicine”

Each step towards trying to more tightly define mental disorders led to more complex ideas about their nature

Concept of Diagnostic Nomenclature Basic idea- how to standardize nomenclature by descriptive, categorical methodologies, minimizing the use of etiology in diagnosis

From the DSM 3 onward these categories have been refined to match clinical research and statistical analyses.

If 5-axis diagnoses seemed helpful and a step forward, why ditch it?

GAF to the WHO-DAS;

Two topics to illustrate the complex changes in two Neurodevelopmental Disorders: Trauma and Stressor related disorders and Disruptive Mood Dysregulation Disorders

What Exactly Are Psychiatric Disorders- The Skeptics View?

Collections of symptoms that hang together but are they syndromes?

Validity of discrete categories, distinct lesion-focused models; reality is a continuum-severity/functional impairment?

Are all psychiatric disorders neurodevelopmental; gene-environmental interactions, who ordered that?

Are genetics a boon or a curse- what do they tell us?

Is neuro-imaging the next phrenology?

Is the age of the discrete neurotransmitter a delusion; are we focusing on the wrong things?

Has the Biopsychosocial Model Become a Cliché?

The original idea: move away from reductionist, simple cause-effect, brain-behavior relationships

Can the model avoid “reification of meaninglessness” and be adapted to our neuroscience revolution?

Genetic, environmental psychological determinism, linear causality versus transactional, epigenetic, and probability (Quantum revolution)

William James and the researchers fallacy- DA model of schizophrenia, ecological/ethological alternatives

Can Categorical/Descriptive Approaches to Diagnosis Ever Deal with Heterogeneity?

Disorder as final common pathways- rethinking to sources of psychopathology

Family traits- variation within families- biopsychosociology

Temperamental antecedents- risk factors, prodromal, states or traits

Genetic Risk factors- where do disconnection and imbalance between excitatory/regulatory systems fit into our models for the inheritance of ID, problem behaviors and mental illness- e. g. where to put behavioral phenotypes

What is the nature of environmental risk factors- transactional models, GXE

Biomarkers- where do they interact with ecological factors, neuro-ethological models

DSM 5: Clinician’s Point of View Uses a descriptive, categorical approach to establish phenomenological subtypes- many have limited adaptability for the severe end of ID

Elimination of 5 axis model in the DSM-5 to align with ICD-11

Super category- Neurodevelopmental Disorders encompasses ASD, ID and other disorders attributed to a childhood onset; many psychiatric disorders are neurodevelopmental.

Broad categories, specifiers, lumping and clinical v research usefulness, dimensionality and overlapping symptoms

Broadness of categories not adapted for patients with dual diagnoses

What’s different? Temperamental features of DMDD- neuroticism, impulse dysregulation, emotional dysregulation and ADHD/ODD

State v. Trait related- externalizing/internalizing disorders, longitudinal trajectory and continuity with BD v mood disorder

IDD- boundary with Intermittent Explosive Disorder, Disruptive/Impulse Control and Conduct Disorder, ASD

Neurocognitive disorders are often overlooked in individuals with IDD

How Do we make a Diagnosis in IDD? Basic temperamental traits- neuroticism, intense negative reactions, chronic over-reactivity, relationship to ADHD with emotional dysregulation

Neural substrates- top down/bottom up; excitation/inhibition, sensitivity to affective information, awareness of emotions

Overlap Intermittent Explosive Disorder but mood/irritability are not intermittent; ODD- two subtypes: irritable high levels of neuroticism; callous un-emotionality, overt defiance resemble CD, and greater risk ASPD; BD- episodic euphoria/irritability with phasic shifts in mood, activity level, self appraisal and circadian/vegetative states

Diagnostic Approaches- Necessary Adjustments Presentation- quality of diagnosis affected by level of ID, co-occurring genetic, neurodevelopmental and neurological/medical disorders; ASD

Qualitative differences between borderline to mild/moderate and severe-profound ID; boundary issues, dueling heterogeneities

Referrals- mostly due to behavioral issues not primary psychiatric complaints;

Assessment requires multiple sources; modifications dues to language and communication deficits, capacity for self-reflection/reporting; modifications- MSE

Adaptations- diagnostic criteria, instruments not designed to define specific endophenotypes

Consensus diagnosis; combining behavioral data with psychiatric assessment

Approach to Behavior Problems in Individuals with Severe/Profound ID

S/P ID require qualitative changes; ASD adds to this need

Three axis model for the DC-ID:

Axis- level of ID; Axis II- causes of IDD; reversal of Axis III sequence, begin with neurobiological-temperamental variability, problem behaviors; symptoms of psychiatric disorders, associated DD

Attachment behaviors need to be included

Temperament- genetic, neurophysiological correlates; transactional model; neuroticism, behavioral inhibition, novelty seeking, introversion/extroversion, cognitive/emotional instability; internalizing/externalizing

Dx- relates to imbalances between multiple and often overlapping domains

Data Collection- Ideally from across multiple settings and ecological contexts

Longitudinal or developmental trajectory of symptoms- time line of behavior/symptom development plotted against life events

Aberrant Behavior Checklist provides a methods of clustering target behaviors: Irritability, lethargy, stereotypy, HA/noncompliance, inappropriate speech (Inventory)- symptoms not Dx

Integrate data from previous assessment and functional behavioral analyses; past treatments

Careful data monitoring can also be used as a diagnostic tool

What Can Behavioral Data Teach Us? Differences in world view- learning models provide insights but may not explain why this disorders affects this individual

Associative CS+US= UR/CR, instrumental (ABC), neurobiology of learning, forgetting and recovering

Factors that initiate a behavior may not be the same as those maintaining it

DSM- predisposing, precipitating, perpetuating, and protective (resilience)

A means of tracking treatment response

What do we learn from our failures?

Analysis of Functional Behavioral Analysis Function: approach-avoidance, intensity of drive, valence of reinforcement, arousal, positive negative affective state

Antecedents: assessment of stimulus/setting, pos/neg affective valence

Behaviors: careful subtyping

Consequences: ease of reinforcement; resistance to extinction

Analysis of Function Function of behavior- arousal, reactivity, motivational state, approach-avoidance, autonomic regulation

Drive or craving, reward potential, hedonic drive

Neuroticism- emotional reactivity

Behavioral inhibition, conflict

Escape behaviors-sensitivity, threat perception

Other Factors Affecting Consequences Ease of conditioning, extinction, reversal learning

Operant learning- valence of reinforcer

Extinction- LTD (long term depression)

Extinction spurt or increased appetitive behaviors

Multiple layers of conditioning- panic disorder with agoraphobia

Another Look at Antecedents and Behavior Antecedents or trigger events, positive/negative experience, setting, memory, conditioning experiences, social factors

Classical conditioning (initiating)- CS/CR impact motivation (escape); intensity of reward potential (approach); Temperamental and presence of psychiatric disorders

Fear conditioning- LTP (panic disorder)

DM-ID-2 Adapting DSM-5 criteria to the special needs of clinicians treating IDD, loss of multi-axial format is problematic, much more data available

Accommodation with the basic issues related to borderline/mild v. severe/profound IDD- not taking into account qualitative differences, nor consideration of a novel approach to diagnosis

Not specifically adapted for the special problems posed by ASD- will we need a new set of criteria or assessment algorithms

Serves as a textbook that includes an update and integrate on developmental neurosciences with bio-psycho-social factors

Includes a section on behavioral phenotypes, but most is devoted to phenomenological subtypes

Diagnostic Instruments- domains and a Clinician’s View of their Research Value Phenomenological “phenotypes” within individual syndromes; separation of Bipolar Disorder from Depressive Disorders; development of Disruptive Mood Dysregulation Disorder from prepubertal BD; Disruptive and Impulse control disorders- integration of temperamental, neurobiological and neuro-ethological phenotypes

ASD- use the specifiers to integrate RDoC criteria; borrow the DC-LD 3 axis model; work with DM-ID development in symptom adaptation

Five factor model of personality disorders- operationalize that temperamental profile analysis for problem behaviors and Disruptive, Impulse-Control and Conduct Disorders

Summary How do we handle general to specific modes of diagnosis- endophenotyping? Current systems are phenomenological phenotypes (lumping, heterogeneity); “neurobiological” endophenotyping (, splitting, etiology-based)

Specificity of neuropharmacology; where do ecological models, diversity systems of therapy fit in? Improvement vs remission, what can we learn from pain management- nociception, subjective pain, misery

In IDD, a comparisons behavioral phenotypes and primary psychiatric disorders , temperament and personality; genes as risk factors, influence the impact of setting events; neuroplasticity, extinction and resilience.

What can individuals with severe/profound ID or severe ASD teach us about diagnosis?

Conclusions Diagnosis is a process; diagnoses are hypotheses that remain reductionist’s ; concept will change over time

How do we monitor progress- ACA and a new synthesis

DSM-5 and DM-ID-2 are based more on a description of syndrome, phenomenological endophenotypes,

Heterogeneity remains across many domains; Behavioral phenotypes are a step in the right direction

Are all major psychiatric disorders neurodevelopmental