RareCNV Phenotypic Collection

Instruments

Demographics

• Genomics Tracking (repeatable instrument)
• Demographics
• Substance History
• Developmental History
• Medical History
• Mental Health Treatment History
• Medications (repeatable instrument)
• SIPS Ratings
• CAARMS Ratings
• Core Psychopathology

Event name: demographics_arm_1

Core Psychopathology assessment DOIs

• The Child and Adolescent Psychiatric Assessment (Duke CAPA)

  • https://doi.org/10.1017/S003329170003498X
  • https://doi.org/10.1097/00004583-200001000-00015

• Development and Well-Being Assessment (DAWBA)

  • https://doi.org/10.1007/s00787-012-0293-6

• GOASSESS

  • https://doi.org/10.1111/jcpp.12416

IQ Measures

• WASI (I)
• WASI-II
• WISC-III
• WISC-IV
• WISC-V
• WAIS-III
• WAIS-III (Short-NL)
• WAIS-IV
• WPPSI-IV
• Leiter-3
• Leiter-R
• Vineland Adaptive Behavior Scales (VABS)

Event name: iq_measures_arm_1

Proband Assessment

• General Probes
• Overanxious/GAD
• Separation Anxiety
• ADHD [short]
• Specific Phobia
• Social Anxiety
• Panic Disorder
• OCD
• Depression [short]
• Mania [short]
• Suicide [short]
• PTSD [short]
• Other Disorders
• Repetitive Behavioral Scale - Revised (RBS-R)

Event name: proband_assessment_arm_1

Family Assessment

• Family Assessment

Event name: family_assessment_arm_1

Retired instruments

• Cognitive Measures/IQ Measures

Missing Data Codes

• UNK, Unknown
• NA, Not applicable
• M, Missing

Medications Coding

Medications are entered using RxNORM. Codings can be accessed at NCBO BioPortal:

• https://bioportal.bioontology.org/ontologies/RXNORM

Changes

2024-03-19

Removed the original IQ entry form completely (deprecated 2021-07-09): "Intelligence/IQ Measures"

2023-10-02

Core Psychopathology update:

• Added
  • psy_asd_core_1
  • psy_asd_core_2

2023-07-18

Core Psychopathology updates:

• New option added to Core Symptoms and "Any DSM-5 Diagnosis fields”

  • “3, Presumed absent because excluded or not mentioned”

• New Source Category Fields

  • psy_dep_source_category
  • psy_bpd_source_category
  • psy_pd_source_category
  • psy_anx_source_category
  • psy_ocd_source_category
  • psy_adhd_source_category
  • psy_odd_source_category
  • psy_asd_source_category
  • psy_id_source_category
  • psy_ld_source_category

• Added

  • psy_adhd_core_1_core_2 (replaces psy_adhd_core_1 and psy_adhd_core_2)
  • psy_adhd_core_3_core_4 (replaces psy_adhd_core_3 and psy_adhd_core_4)

• Removed

  • psy_adhd_core_1
  • psy_adhd_core_2
  • psy_adhd_core_3
  • psy_adhd_core_4

2022-05-20

• Added K-SADS to Core Psychopathology assessment options for appropriate categories

2022-01-12

• Added Genomics Tracking instrument

2021-12-07

• Added two new options to psy_id
  • Borderline Intellectual Functioning
  • Profound Intellectual Disability
• Removed "GOASSESS" as an option for psy_pd_source_asmt

2021-10-08

• Added "22q Duplication & 16p Duplication" option to group_classification

2021-08-10

• New IQ measures added:
  • WAIS-III (Short-NL)

2021-07-09

• New event for IQ Measures
  • Event name: iq_measures_arm_1
• New IQ measures added:
  • WASI (I)
  • WASI-II
  • WISC-III
  • WISC-IV
  • WISC-V
  • WAIS-III
  • WAIS-IV
  • WPPSI-IV
  • Leiter-3
  • Leiter-R
• Vineland Adaptive Behavior Scales entry moved to a separate instrument

2021-04-22

• New fields added to Demographics:
  • dem_gender_identity
  • gender_identity_other

2021-03-02

• New fields added for affected subjects:
  • group_fish
  • group_16p_type
  • group_22q_type
  • group_22q_type_other
• New field: affected_unknown for subjects with an unknown status at time of assessment

2020-10-15

• Each category requires a Source of Diagnosis
  • Standardized assessments
  • Clinical records/reports by a clinician (can be inpatient/outpatient)
  • School records
  • Family care provider report
  • Self-report
  • Own observation during assessment
  • If “Standardized assessments” is selected, the assessment(s) used must be entered.
• The Intellectual Disability (ID) and Learning Disability (LD) variable has been replaced and expanded
  • Any data previously entered will be need to be re-entered based on the new options for all records. New subtypes for Specific Learning Disability have been added.
• Other DSM-5 Diagnoses Entry
  • The Core Psychopathology has a new field for entering any other DSM-5 diagnoses that are not on the form. Enter the DSM-5 code, separated by comma if multiple (e.g. “348.62, 348.61").
• Removal of the LD and ID fields from the Mental Health Treatment History
  • mht_relation_dx_8, mht_relation_dx_8_trt, mht_relation_dx_9, mht_relation_dx__trt have been removed.
• Addition of the Cognitive Measures instrument
  • The Cognitive Measures instrument is entirely new to this project for entry of IQ testing.
  • Two timepoints are to be entered (if available) – Initial testing and most recent testing.

2020-07-23

• New field: Group Classification. Required for all affected subjects.