AREA 01 / 15Life course · Developmental origin
Birth / feeding
What was already visible before later labels appeared?
Pregnancy, delivery, neonatal course, latch, early feeding mechanics, reflux, growth entry point, and unusual support needed during infancy.
Primary chapter · Oral, GI, ENT & growth →Information available and how to read it
For 2 people, at least one item in this area is supported by an original clinical record.
WHAT THE INFORMATION SHOWS
Early feeding, reflux, growth-entry, neonatal, and support-needs histories are documented in 23 people; 38 profiles do not yet answer this early-life question.
HOW TO READ IT
Pregnancy, neonatal, and feeding history should define the developmental starting point; later diagnoses cannot reconstruct what was never captured.
NEXT MEASUREMENT
Use birth and neonatal records, serial growth, feeding mechanics, airway safety, early supports, and a dated developmental timeline.
Clinical terms found in the available information
Pregnancy & birth
- prenatal growth or exposure history
- prematurity
- fetal or perinatal rhythm concern
- delivery and neonatal complications
- jaundice or neonatal treatment
Early feeding mechanics
- latch or atypical suck
- bottle pattern and low volumes
- pacifier non-acceptance
- cheek stimulation or unusual feeding support
- fatigue, reflux, or large spit-ups
Early trajectory
- hypotonia or unusual tone
- early motor or communication differences
- failure to thrive or downward growth shift
- tube or specialist feeding support
- early airway or swallowing concern
These terms were not assessed in the same way for every person, so this is not a table of how common each feature is.
Where the information comes from and what it cannot show
SOURCE TYPES REVIEWED
- birth records
- growth curves
- feeding evaluations
- family chronology
Counts include all 61 connected people. Clinical records, family-reported results, direct observations, and proposed explanations are kept separate. Permission information does not count as clinical evidence. Missing information is not a negative result.
AREA 02 / 15Molecular & perturbation · Molecular finding
Genetics
What exactly is the molecular finding—and what is not established?
Transcript, cDNA and protein change, variant class, inheritance, laboratory classification, testing method, co-findings, and unresolved interpretation.
Primary chapter · Variant landscape →Information available and how to read it
For 21 people, at least one item in this area is supported by an original clinical record.
WHAT THE INFORMATION SHOWS
Exact molecular results are recorded for 59 people. An original laboratory report is available for 21. Two other people have non-exact or unresolved results and are not included in protein-position analysis.
HOW TO READ IT
Variant class is the beginning of mechanism, not a severity score. Transcript, inheritance, direction of effect, co-findings, and residual functional dosage remain essential.
NEXT MEASUREMENT
Cross-check the original laboratory report, transcript and isoform, parental testing, classification, CNV context, and allele-specific functional evidence.
Clinical terms found in the available information
Primary molecular line
- transcript and isoform
- cDNA and protein consequence
- variant class and laboratory classification
- testing method and report date
- inheritance and parental testing
Interpretive controls
- nonsense-mediated-decay context
- CNV extent and neighboring genes
- complex or mixed molecular architecture
- co-findings and second diagnoses
- pending or protein-undefined records
Recurrence & family structure
- exact-allele recurrence
- same-residue but different consequence
- familial segregation
- twin and relative structure
- public-source duplication versus independent people
These terms were not assessed in the same way for every person, so this is not a table of how common each feature is.
Where the information comes from and what it cannot show
SOURCE TYPES REVIEWED
- genetic report
- parental testing
- ClinVar context
- co-finding review
Counts include all 61 connected people. Clinical records, family-reported results, direct observations, and proposed explanations are kept separate. Permission information does not count as clinical evidence. Missing information is not a negative result.
AREA 03 / 15Life course · Neurodevelopment
Development / language
How did skills emerge, plateau, fluctuate, or become accessible?
Motor and language milestones, receptive and expressive profiles, learning, memory access, apraxia, communication supports, and developmental trajectory.
Primary chapter · Development & memory →Information available and how to read it
For 9 people, at least one item in this area is supported by an original clinical record.
WHAT THE INFORMATION SHOWS
Observed performance changes with task structure, fatigue, illness, sensory load, medication, and communication access in the current record.
HOW TO READ IT
Stable developmental difference, uneven skill profile, fluctuating access, and true acquired loss are different clinical constructs and should not share one regression label.
NEXT MEASUREMENT
Repeat short language and executive probes, adaptive measures, hearing and sleep review, seizure context, and comparable video or task samples across states.
Clinical terms found in the available information
Milestones & learning
- gross- and fine-motor milestones
- nonverbal or late-language periods
- continued gains, plateau, or uneven acquisition
- intellectual and adaptive testing
- school curriculum and support needs
Speech & language
- apraxia or motor-speech difficulty
- articulation
- receptive versus expressive language
- grammar and syntax
- auditory processing and response latency
Memory & access
- decoding versus comprehension
- working and delayed memory
- episodic, spatial, and procedural differences
- word-finding and retrieval
- state-dependent access, true loss, and recovery
These terms were not assessed in the same way for every person, so this is not a table of how common each feature is.
Where the information comes from and what it cannot show
SOURCE TYPES REVIEWED
- developmental testing
- speech reports
- school records
- longitudinal observation
Counts include all 61 connected people. Clinical records, family-reported results, direct observations, and proposed explanations are kept separate. Permission information does not count as clinical evidence. Missing information is not a negative result.
AREA 04 / 15Neurocognitive & state · Neurophysiology
Seizure / EEG / spells
What is electrographic, what is observed, and what remains unresolved?
Seizure diagnoses, EEG architecture, background organization, sleep captured, non-epileptiform spells, event awareness, recovery, and cardiac channel context.
Primary chapter · Neurology & seizures →Information available and how to read it
For 13 people, at least one item in this area is supported by an original clinical record.
WHAT THE INFORMATION SHOWS
This area includes established electroclinical seizures, abnormal EEG background without an epileptiform event, captured nonepileptic movements, and unresolved spells.
HOW TO READ IT
Event phenotype, EEG background, captured electrographic correlate, sleep state, and cardiorespiratory physiology answer different questions.
NEXT MEASUREMENT
Define the representative event, capture sleep and the event when indicated, document recovery, and align EEG with video, ECG, oxygenation, or other physiology supported by the phenotype.
Clinical terms found in the available information
Seizure phenotypes
- absence or brief generalized seizures
- generalized tonic-clonic or convulsive events
- focal or multifocal events
- spasms
- neonatal or infant events
EEG architecture
- background slowing or disorganization
- posterior dominant rhythm
- interictal generalized, focal, or multifocal discharges
- sleep-stage acquisition
- activation and photic response
Spells & controls
- staring or shutdown-like events
- nocturnal or awakening-linked events
- typical movements captured without EEG correlate
- cardiac, oxygenation, or autonomic overlap
- post-event confusion, sleep, weakness, or recovery
These terms were not assessed in the same way for every person, so this is not a table of how common each feature is.
Where the information comes from and what it cannot show
SOURCE TYPES REVIEWED
- raw or formal EEG
- neurology notes
- event video
- spell timeline
Counts include all 61 connected people. Clinical records, family-reported results, direct observations, and proposed explanations are kept separate. Permission information does not count as clinical evidence. Missing information is not a negative result.
AREA 05 / 15Neurocognitive & state · State regulation
Sleep / state / fatigue
Can the nervous system enter, sustain, and exit physiological states reliably?
Sleep onset and architecture, awakening, daytime fatigue, state-dependent access, recovery windows, paradoxical alerting, and within-day variability.
Primary chapter · Sleep & state →Information available and how to read it
For 7 people, at least one item in this area is supported by an original clinical record.
WHAT THE INFORMATION SHOWS
The record includes fragmented or short sleep, awakening-linked change, failed sleep staging in one study, normal staged sleep in another, and airway or sleep-deprivation burden.
HOW TO READ IT
Sleep duration, architecture, airway, nocturnal events, circadian state, medication, and daytime access must be separated.
NEXT MEASUREMENT
Pair sleep diary or actigraphy with iron and airway review, medication timing, event logs, and polysomnography or EEG when the clinical question supports it.
Clinical terms found in the available information
Sleep entry & maintenance
- long sleep latency
- night waking
- short or fragmented sleep
- heavy sleep and difficult awakening
- sleep talking, screaming, or unusual movements
Architecture & airway
- sleep-stage organization
- sleep-related movement
- snoring or mouth-open sleep
- obstructive or central events
- reassuring sleep physiology as an explicit control
Daytime state
- fatigue and reduced endurance
- nap-related schedule change
- awakening-linked seizure or access change
- circadian and medication effects
- prolonged or paradoxical sedation
These terms were not assessed in the same way for every person, so this is not a table of how common each feature is.
Where the information comes from and what it cannot show
SOURCE TYPES REVIEWED
- sleep study
- EEG sleep data
- sleep logs
- medication chronology
Counts include all 61 connected people. Clinical records, family-reported results, direct observations, and proposed explanations are kept separate. Permission information does not count as clinical evidence. Missing information is not a negative result.
AREA 06 / 15Body systems · Oral-motor system
Oral / dental / chewing
Is oral function being reduced to a generic feeding label?
Chewing, swallowing, pocketing, gagging, dentition timing, oral pain signaling, mucosa, saliva, sensory response, brushing, and food-safety dependence.
Primary chapter · Oral function →Information available and how to read it
For 4 people, at least one item in this area is supported by an original clinical record.
WHAT THE INFORMATION SHOWS
Suck and latch, low intake, dysphagia, abnormal chewing, gagging, sensory gating, late eruption, oral pain, and mucosal intolerance appear as distinct patterns.
HOW TO READ IT
A generic feeding label can hide airway, oromotor, sensory, GI, dental, and pain mechanisms that require different assessment.
NEXT MEASUREMENT
Characterize oral motor function, swallowing safety, dentition and mucosa, sensory context, food texture, pain signaling, and nutrition separately.
Clinical terms found in the available information
Chewing & swallowing
- absent, delayed, or inefficient chewing
- pocketing or prolonged texture dependence
- gagging
- drooling or saliva pooling
- choking, dysphagia, thickened liquids, or aspiration concern
Dentition & structure
- eruption timing
- teething or dental pain
- retained or delayed dentition
- dental treatment needs
- palate, bite, tooth, toe, or nail morphology
Mucosa, pain & sensory calibration
- gum bleeding or oral ulceration
- tooth pain
- brushing intolerance
- mint, foam, fluoride, or temperature reactions
- oral seeking, biting, chewing objects, or reduced flavor warning
These terms were not assessed in the same way for every person, so this is not a table of how common each feature is.
Where the information comes from and what it cannot show
SOURCE TYPES REVIEWED
- feeding study
- dental record
- speech/OT note
- caregiver observation
Counts include all 61 connected people. Clinical records, family-reported results, direct observations, and proposed explanations are kept separate. Permission information does not count as clinical evidence. Missing information is not a negative result.
AREA 07 / 15Body systems · Internal regulation
GI / fuel / bowel
How do motility, intake, fuel defense, and bowel state interact with function?
Reflux, vomiting, diarrhea, constipation, motility, satiety, pica, intake shifts, hydration, fuel-state concerns, and behavior during bowel-state change.
Primary chapter · GI & fuel physiology →Information available and how to read it
For 3 people, at least one item in this area is supported by an original clinical record.
WHAT THE INFORMATION SHOWS
Retention, reflux, vomiting, food-state coupling, constipation, and selected fuel-state concerns are represented in the available records.
HOW TO READ IT
Motility, intake, hydration, pain, metabolic defense, medication, and functional state should be aligned on the same timeline.
NEXT MEASUREMENT
Track stool pattern, intake, hydration, vomiting, weight, pain, relevant glucose or ketones, intervention, and recovery using the clinically indicated GI or metabolic workup.
Clinical terms found in the available information
Upper GI
- large spit-ups or reflux
- recurrent vomiting
- cyclic-vomiting patterns
- gagging or emesis linked to intake
- medication-, illness-, or constipation-linked worsening
Bowel & motility
- constipation and stool retention
- fecal impaction
- withholding and toilet-learning context
- overflow diarrhea or alternating stools
- pain, distension, and motility slowing
Fuel & intake
- hunger or satiety differences
- food refusal, visual or sensory gating, and pica
- fasting or fuel-state intolerance
- clinically indicated metabolic assessment
- hydration, low intake, weight, and functional change
These terms were not assessed in the same way for every person, so this is not a table of how common each feature is.
Where the information comes from and what it cannot show
SOURCE TYPES REVIEWED
- GI notes
- imaging
- laboratory data
- stool and intake logs
Counts include all 61 connected people. Clinical records, family-reported results, direct observations, and proposed explanations are kept separate. Permission information does not count as clinical evidence. Missing information is not a negative result.
AREA 08 / 15Body systems · Pressure and clearance
ENT / hearing / airway
Are drainage, pressure, secretion, or airway burdens changing state?
Otitis, mastoid and sinus findings, hearing thresholds, tinnitus, adenoids, tonsils, airway, breathing during sleep, and discordance between imaging and symptoms.
Primary chapter · ENT, hearing & airway →Information available and how to read it
For 5 people, at least one item in this area is supported by an original clinical record.
WHAT THE INFORMATION SHOWS
Symptoms, imaging, audiology, middle-ear disease, and sleep-airway burden do not always align in the current records.
HOW TO READ IT
Radiographic sinus or mastoid signal, hearing function, secretion clearance, pressure, and sleep-related obstruction are separate clinical variables.
NEXT MEASUREMENT
Align symptoms with ENT examination, audiology, tympanometry, airway and sleep assessment, imaging context, treatment, and recovery.
Clinical terms found in the available information
Ear & hearing
- recurrent otitis
- thick middle-ear fluid
- mastoid effusion
- tubes or myringotomy
- hearing loss, tinnitus, muffled hearing, ABR, or reassuring audiology
Sinus & nasal airway
- sinus disease or congestion
- chronic rhinorrhea
- adenoid or tonsil hypertrophy
- deviated septum or obstruction
- local treatment and operative response
Sleep-airway interface
- mouth-open sleep
- snoring
- witnessed pauses
- airway-linked fatigue or state change
- snoring without obstructive sleep apnea as an explicit control
These terms were not assessed in the same way for every person, so this is not a table of how common each feature is.
Where the information comes from and what it cannot show
SOURCE TYPES REVIEWED
- ENT exam
- audiology
- MRI/CT
- operative note
Counts include all 61 connected people. Clinical records, family-reported results, direct observations, and proposed explanations are kept separate. Permission information does not count as clinical evidence. Missing information is not a negative result.
AREA 09 / 15Neurocognitive & state · Sensorimotor output
Motor / tone / gait / vision
What changes across baseline, fatigue, illness, pain, and recovery?
Hypotonia or hypertonia, gait, balance, coordination, laterality, pain, weakness, movement spells, ocular motor findings, and functional mobility.
Primary chapter · Movement, gait & tics →Information available and how to read it
For 7 people, at least one item in this area is supported by an original clinical record.
WHAT THE INFORMATION SHOWS
Hypotonia and coordination differences coexist with laterality, pain, foot and gait findings, acquired loss or recovery, and state-linked motor change.
HOW TO READ IT
Static developmental motor difference, episodic change, pain-limited output, orthopedic burden, and acquired neurologic loss require different explanations.
NEXT MEASUREMENT
Use serial neurologic and musculoskeletal examinations, PT/OT measures, gait or task video, laterality, pain, vision, and recovery trajectory.
Clinical terms found in the available information
Tone, strength & coordination
- hypotonia
- hypertonia, stiffness, or mixed tone
- balance and coordination
- fine-motor and handwriting difficulty
- fatigue, weakness, or reduced endurance
Gait, laterality & feet
- toe walking
- clubfoot, flat-valgus feet, tibial varus, or toe webbing
- unilateral dragging, limping, or inward turning
- AFOs, supportive shoes, or ankle support
- side-specific loss and recovery
Pain, movement & vision
- blunted or heightened pain expression
- muscle pain, fracture, tightness, or contracture
- tics, stereotypies, posturing, or episodic movement
- change in mobility and recovery
- strabismus, ocular-motor, or other vision findings
These terms were not assessed in the same way for every person, so this is not a table of how common each feature is.
Where the information comes from and what it cannot show
SOURCE TYPES REVIEWED
- neurologic exam
- PT/OT
- ophthalmology
- video chronology
Counts include all 61 connected people. Clinical records, family-reported results, direct observations, and proposed explanations are kept separate. Permission information does not count as clinical evidence. Missing information is not a negative result.
AREA 10 / 15Neurocognitive & state · Contextual function
Behavior / sensory
Is behavior being interpreted without its physiological context?
Sensory seeking or avoidance, overload, shutdown, anxiety, regulation, transitions, pain response, interoception, and the context surrounding functional change.
Primary chapter · Neurobehavioral & mental health →Information available and how to read it
For 4 people, at least one item in this area is supported by an original clinical record.
WHAT THE INFORMATION SHOWS
Regulation, sensory response, anxiety, shutdown, overload, atypical pain signaling, and task demand are often documented alongside changes in physiology or access to communication.
HOW TO READ IT
Observable behavior is an output. Intent, psychiatric meaning, sensory function, communication mismatch, pain, and medical burden should not be assumed to be interchangeable.
NEXT MEASUREMENT
Describe the event first, then record antecedent physiology, communication access, environment, duration, support response, and recovery before assigning a label.
Clinical terms found in the available information
Sensory processing
- sound, touch, texture, temperature, or oral sensitivity
- sensory seeking and deep-pressure needs
- repetitive movement used for regulation
- low or amplified pain response
- interoceptive and body-state differences
Regulation & context
- overload, freezing, or shutdown
- anxiety, OCD-like rigidity, or mood symptoms
- transition and routine dependence
- environment- or task-specific performance
- communication mismatch and delayed response
Change over time
- head banging, aggression, or other behavior that improved
- new fear or sensory response
- illness-, sleep-, bowel-, pain-, or medication-linked change
- school versus home differences
- recovery, recurrence, and a new baseline
These terms were not assessed in the same way for every person, so this is not a table of how common each feature is.
Where the information comes from and what it cannot show
SOURCE TYPES REVIEWED
- structured history
- school records
- OT assessment
- context log
Counts include all 61 connected people. Clinical records, family-reported results, direct observations, and proposed explanations are kept separate. Permission information does not count as clinical evidence. Missing information is not a negative result.
AREA 11 / 15Body systems · Barrier and response
Immune / skin / mucosal
What is measurable—and what remains only temporally associated?
Infection history, antibody-response testing, mucosal findings, skin, wound healing, allergy, inflammatory testing, and recovery after immune load.
Primary chapter · Immune, skin & mucosa →Information available and how to read it
For 6 people, at least one item in this area is supported by an original clinical record.
WHAT THE INFORMATION SHOWS
Recurrent infection and ENT burden, mucosal fragility, skin or healing observations, and selected laboratory findings are present but heterogeneous.
HOW TO READ IT
The current record supports standardized immune and barrier phenotyping; it does not establish a shared ASH1L immune disorder.
NEXT MEASUREMENT
Define infection type and frequency, barrier or mucosal phenotype, objective immune testing when indicated, treatment exposure, vaccine-response question, and recovery.
Clinical terms found in the available information
Infection & antibody response
- recurrent viral or bacterial illness
- ENT or skin infection burden
- anti-infective exposure
- immunoglobulin and antibody-response testing
- specialist interpretation over time
Inflammation & mucosa
- systemic inflammatory markers
- selected immune testing
- oral, ENT, GI, or urinary mucosal findings
- allergy or atopy
- normal markers retained as explicit controls
Skin, vascular & repair
- eczema, itching, flushing, or skin differences
- bruising
- wound healing or scarring
- vascular or hemostatic observations
- fracture and mobility context
These terms were not assessed in the same way for every person, so this is not a table of how common each feature is.
Where the information comes from and what it cannot show
SOURCE TYPES REVIEWED
- immunology record
- laboratory data
- infection timeline
- dermatology
Counts include all 61 connected people. Clinical records, family-reported results, direct observations, and proposed explanations are kept separate. Permission information does not count as clinical evidence. Missing information is not a negative result.
AREA 12 / 15Body systems · Whole-body regulation
Autonomic / cardiac / urinary / temperature
Do episodic outputs align across systems and time?
Heart rate and rhythm, syncope-like events, temperature, sweating, color change, urinary findings, hydration, exercise tolerance, and peri-event physiology.
Primary chapter · Cardiac & autonomic →Information available and how to read it
For 6 people, at least one item in this area is supported by an original clinical record.
WHAT THE INFORMATION SHOWS
Faint or breath-related events, temperature and sweating differences, urinary findings, orthostatic symptoms, rhythm concerns, and both reassuring and abnormal cardiac studies appear in the available records.
HOW TO READ IT
Symptoms alone cannot separate seizure, syncope, arrhythmia, autonomic change, breathing event, hydration, pain, or behavioral response.
NEXT MEASUREMENT
Capture event-level heart rate, rhythm, blood pressure, oxygenation, position, breathing, hydration, temperature, urinalysis context, awareness, and recovery as clinically indicated.
Clinical terms found in the available information
Cardiac rhythm & structure
- rhythm or rate findings
- ECG or conduction findings
- structural assessment
- event monitoring
- treatment and recovery context
Autonomic & respiratory events
- syncope, drop, or orthostatic symptoms
- postural intolerance
- breath-holding, color change, or oxygenation concern
- sweating, flushing, cold extremities, or heat intolerance
- hydration, exertion, and recovery
Urinary & temperature
- urinary infection or symptoms
- urinalysis findings
- positive and negative testing
- urine-output change during illness or heat
- temperature pattern and later controls
These terms were not assessed in the same way for every person, so this is not a table of how common each feature is.
Where the information comes from and what it cannot show
SOURCE TYPES REVIEWED
- ECG/Holter
- cardiology
- vital-sign log
- urinalysis
Counts include all 61 connected people. Clinical records, family-reported results, direct observations, and proposed explanations are kept separate. Permission information does not count as clinical evidence. Missing information is not a negative result.
AREA 13 / 15Body systems · Developmental physiology
Growth / endocrine / puberty / bone
How does growth biology change across age and physiological transition?
Growth trajectory, growth-axis, thyroid and adrenal testing, puberty, menstrual effects, bone health, fractures, connective features, and nutritional context.
Primary chapter · Growth, endocrine & bone →Information available and how to read it
For 7 people, at least one item in this area is supported by an original clinical record.
WHAT THE INFORMATION SHOWS
Growth trajectory, low-for-age bone density or fracture, thyroid and other endocrine testing, and hormone or menstrual-state change are represented, but many records do not address these areas.
HOW TO READ IT
Nutrition, mobility, antiseizure medication, puberty, co-findings, and ordinary endocrine or bone disease can confound a raw cross-case comparison.
NEXT MEASUREMENT
Use serial growth, nutrition and mobility context, puberty and cycle timing, relevant endocrine testing, medication exposure, fracture history, and DEXA when indicated.
Clinical terms found in the available information
Growth & nutrition
- failure to thrive
- height and weight trajectory
- macrocephaly or microcephaly
- diet texture and nutrient intake
- mobility and weight-bearing context
Endocrine & metabolic
- growth-axis testing
- adrenal testing
- thyroid and bone age
- clinically indicated metabolic assessment
- vitamin and mineral-bone context
Puberty, bone & connective tissue
- early puberty or adrenarche
- menstrual- or hormone-linked change
- contraceptive use for cycle control
- fracture, DEXA, and bone density
- hypermobility and connective-tissue co-findings
These terms were not assessed in the same way for every person, so this is not a table of how common each feature is.
Where the information comes from and what it cannot show
SOURCE TYPES REVIEWED
- growth chart
- endocrine labs
- bone imaging
- puberty timeline
Counts include all 61 connected people. Clinical records, family-reported results, direct observations, and proposed explanations are kept separate. Permission information does not count as clinical evidence. Missing information is not a negative result.
AREA 14 / 15Molecular & perturbation · Perturbation response
Medication / anesthesia
What changed after exposure, for how long, and with what competing explanations?
Therapeutic response, paradoxical effects, sedation resistance or prolonged effect, anesthesia recovery, adverse events, dosing context, and return to baseline.
Primary chapter · State measurement →Information available and how to read it
For 6 people, at least one item in this area is supported by an original clinical record.
WHAT THE INFORMATION SHOWS
Illness, poor sleep, bowel or fuel state, heat, puberty, medication, and anesthesia windows contain changes in both directions, including partial response and prolonged recovery.
HOW TO READ IT
Temporal association is a hypothesis-generating within-person signal. It is not automatically a treatment claim, adverse-effect claim, or ASH1L-specific mechanism.
NEXT MEASUREMENT
Use prospective time-locked N-of-1 structure: baseline, exposure or dose, concurrent load, domain-specific outcome, duration, recovery, recurrence, and counterexamples.
Clinical terms found in the available information
Therapeutic response
- neurologic treatment by event type
- device or other specialist-directed treatment
- sleep and bowel treatments
- nutrition or metabolic support
- therapy and environmental supports
Adverse or paradoxical response
- activating or sedating response
- treatment-linked regulation change
- unexpected procedural response
- prolonged sleep or recovery
- post-procedure worsening
Minimum chronology
- agent and formulation
- dose and timing
- co-medications and concurrent illness
- domain-specific change
- duration, recovery, recurrence, and counterexamples
These terms were not assessed in the same way for every person, so this is not a table of how common each feature is.
Where the information comes from and what it cannot show
SOURCE TYPES REVIEWED
- MAR/anesthesia record
- procedure note
- dose timeline
- post-exposure observation
Counts include all 61 connected people. Clinical records, family-reported results, direct observations, and proposed explanations are kept separate. Permission information does not count as clinical evidence. Missing information is not a negative result.
AREA 15 / 15Life course · Real-world trajectory
Function / school / adult
What can the person do—and when is access to that function reliable?
Adaptive function, learning supports, communication, safety, participation, adult transition, daily living, quality of life, and change across environments.
Primary chapter · Function, school & adult life →Information available and how to read it
For 2 people, at least one item in this area is supported by an original clinical record.
WHAT THE INFORMATION SHOWS
Communication support, school and therapy access, safety, adaptive daily living, adult transition, participation, and state-dependent capacity are documented unevenly across the lifespan.
HOW TO READ IT
Presence of a skill and reliable access to that skill are different outcomes. Environment, support, fatigue, pain, language load, and recovery can change the observable result.
NEXT MEASUREMENT
Repeat comparable adaptive and participation measures across settings, preserve support conditions, and track adult function, safety, quality of life, and change from the person’s own baseline.
Clinical terms found in the available information
Communication & learning
- AAC and communication supports
- IEP and modified curriculum
- speech, OT, PT, and specialized instruction
- processing time and visual structure
- music, repetition, and other successful learning supports
Adaptive function & safety
- daily living and self-care
- mobility and equipment
- school and community participation
- risk awareness and supervision
- function across home, clinic, and school
Transition & adult life
- adult education, work, and living supports
- health-care transition
- mental health and quality of life
- caregiver and family support needs
- preserved capacity versus reliable access
These terms were not assessed in the same way for every person, so this is not a table of how common each feature is.
Where the information comes from and what it cannot show
SOURCE TYPES REVIEWED
- IEP/education
- adaptive testing
- therapy goals
- adult function record
Counts include all 61 connected people. Clinical records, family-reported results, direct observations, and proposed explanations are kept separate. Permission information does not count as clinical evidence. Missing information is not a negative result.