Six pathway families
Each relation can be studied independently or in combination.
P1–P5 describe the intrinsic causal and developmental architecture. P6 is a formally modelable downstream classification pathway. Atomic subidentifiers allow one arrow, one pathway family, or a prespecified combination to be reviewed or tested without treating the complete framework as one indivisible claim.
P1Intrinsic causal/developmental
Phenotype-formation pathway
Phenotype-specific common-variant liability → phenotype-specific neuroendophenotype → phenotype-specific traits
The pathway formalizes how phenotype-specific liability is hypothesized to contribute to intermediate biological and cognitive features and then to the traits that constitute the relevant profile. The neuroendophenotype and each resulting trait are subfeatures within the profile, not the complete profile itself.
Atomic relations
- P1a · Phenotype-specific common-variant liability → phenotype-specific neuroendophenotype
- P1b · Phenotype-specific neuroendophenotype → phenotype-specific traits
P2Intrinsic causal/developmental
Burden-formation pathway
Risk factors or exposures → buffering or amplification → realized neurodevelopmental insults → cumulative Neurodevelopmental Burden
Potential risk factors and exposures become neurodevelopmentally relevant only insofar as, after buffering or amplification, they produce realized insults. Neurodevelopmental Burden is the cumulative developmental burden arising from all realized insults across development, not a simple count of exposures.
Atomic relations
- P2a · Risk factor or exposure × buffering or amplification → realized neurodevelopmental insult
- P2b · Realized neurodevelopmental insults across development → cumulative Neurodevelopmental Burden
- P2c · Insult type, timing, duration, target, and interaction → composition of Neurodevelopmental Burden
P3Intrinsic causal/developmental
Burden–capacity pathway
Neurodevelopmental Burden → attained and/or currently available Cognitive Capacity
The principal modeled route from burden to expression is through constraint on the cognitive and executive resources attained across development or available at the relevant time.
Atomic relations
- P3a · Cumulative Neurodevelopmental Burden → attained and/or currently available Cognitive Capacity
- P3b · Individual realized neurodevelopmental insult → attained and/or currently available Cognitive Capacity
P4Intrinsic causal/developmental
Compensation pathway
Cognitive Capacity and external resources → compensatory deployment → modified function and observable expression, potentially with effort and cost
Resources do not compensate merely by existing. Their deployment may improve function, reduce visible trait expression, or both, while also producing effort, short-term cost, or longer-term cost.
Atomic relations
- P4a · Internal and external resources → compensatory deployment
- P4b · Compensatory deployment → functional effectiveness and/or reduced trait visibility
- P4c · Compensatory deployment → effort, sustainability, and short- or long-term cost
P5Intrinsic causal/developmental
Expression pathway
Phenotype-specific trait profile + Cognitive Capacity and compensation + Neurodevelopmental Burden + current context → Functional and Clinical Expression
Functional and Clinical Expression is the actual integrative outcome generated by the framework. The trait profile primarily supplies the form and magnitude of expressed traits. Cognitive Capacity and compensation influence how demands are managed, Neurodevelopmental Burden may constrain available capacity, and surrounding demands, support, scaffolding, and fit moderate the resulting effects.
Atomic relations
- P5a · Phenotype-specific trait profile → form and magnitude of the expressed trait pattern
- P5b · Cognitive Capacity and compensation → management, visibility, functional consequence, effort, and cost
- P5c · Current demands, support, scaffolding, and fit → moderated Functional and Clinical Expression
P6Clinical ascertainment
Clinical ascertainment pathway
Functional and Clinical Expression + diagnostic criteria + ascertainment context → Clinical Diagnosis
This downstream classification pathway formalizes how expression is translated into diagnosis under specified criteria, assessment procedures, referral and access pathways, evaluator practices, service organization, and cultural or regional conditions.
Atomic relations
- P6a · Functional and Clinical Expression × diagnostic criteria → diagnostic eligibility
- P6b · Referral, access, informants, instruments, evaluator practice, and service context → observed Clinical Diagnosis