Introduction
The TIC Genetics study
Methods
Subjects
Topics | Measures | Measurement instruments, examples of variables |
---|---|---|
Demographic information and health indicators | Tourette Syndrome Association Genetic Linkage Consortium’s Family Self-Report Questionnaire (TSA, January 1995; http://www.findTSgenes.org) | |
Demographics | Race, ethnicity, schooling, parent education/occupation, birth order, handedness, etc. | |
Subject’s medical history | Range of pulmonary, dermatologic, allergic, cardiovascular diseases, neurological conditions, congenital anomalies, genetic syndromes, etc. | |
Psychotropic medication use (lifetime and past two weeks) | Broad range of neuroleptics, selective serotonin reuptake inhibitors, other antidepressants, mood stabilizers, benzodiazepines, stimulants etc. | |
Family history of tic and other relevant psychiatric and medical disorders | OCD, ADHD, hair pulling, autism spectrum disorders, mental retardation, neurological disorders, genetic syndromes, etc., of family members | |
Psychopathological disorders and symptoms, lifetime and past week | ||
Tic disorders | Tourette syndrome | Yale Global Tic Severity Scale (YGTSS, Leckman et al. [36]) |
Chronic tic disorders (chronic motor or vocal tic disorder, or combined subtypea) | ||
Transient tic disorder | ||
Provisional tic disorder (DSM-5 [47]) | ||
Tic disorder-NOS | ||
Obsessive–compulsive disorder (OCD) or OC symptoms | OCD Subclinical OCD OC symptoms | |
Trichotillomania | Questions on past and present hair pulling, pulling eye-lashes or eyebrows resulting in noticeable hair loss | |
Attention-deficit/hyperactivity disorder (ADHD) | Combined type Predominantly inattentive type Predominantly hyperactive–impulsive type Subclinical ADHD | Swanson Nolan and Pelham-IV (SNAP-IV, Swanson et al. 1992) [43] |
Other medical or psychiatric history, or aggressive episodes | Neurological, medical, or genetic disorders; autism spectrum disorders, psychotic disorders, anxiety disorders, mood disorders, externalizing disorders, etc., by clinician review | |
Environmental risk factors | Prenatal, perinatal, and developmental history | Pregnancy, Birth, and Development Questionnaire (Modified schedule for risk and protective factors early in development; Walkup and Leckman [51, 52]) Pregnancy (maternal age, paternal age, pregnancy duration, special medical procedures or problems during pregnancy, medication use, use of substances [smoking, alcohol, street drugs, caffeine]) Labor and delivery (birth weight, gestational age, complications, multiple pregnancy, medications, premature birth) Newborn period (APGAR scores, medical concerns, problems, and interventions) First years of life (developmental milestones) |
Biomaterials | DNA, transformed cell lines, RNA |
Data collection procedure
Clinical assessments
Adult self-report and parent-on-child report questionnaires followed by clinician review
Clinical diagnoses
Creation of permanent cell lines, whole-blood DNA, and transcriptomes
Data management and ethical issues
Sample description
Narrow model
N
| Intermediate model
N
| Broad model
N
| |
---|---|---|---|
Singleton probandsa
| 26 | 26 | 26 |
Triosb
| 218 | 218 | 218 |
Simplex trios
c
| 91 | 91 | 78 |
All Multiplex familiesd
| 53 | 62 | 76 |
Multiplex families with 3 affected | 34 | 39 | 46 |
Multiplex families with 4 affected | 12 | 14 | 20 |
Multiplex families with 5+ affected | 7 | 9 | 10 |
Other familiese
| 58 | 57 | 55 |
N
M (range) age yrs % sex | Tourette syndrome | Chronic tic disordera
| Other tic disordersb
| OCD | Sub-clinical OC disorder and OC symptoms | Trichotillomania | ADHDc
| |
---|---|---|---|---|---|---|---|---|
N (%) m/f |
N (%) m/f |
N (%) m/f |
N (%) m/f |
N (%) m/f |
N (%) m/f |
N (%) m/f | ||
Probandsd
| 274 15.9 (5–74) 77 % male | 260 (94.9) 198/62 | 14 (5.1) 13/1 | n/a | 130 (47.4) 96/34 | 57 (20.8) 45/12 | 12 (4.4) 9/3 | 110 (36.5) 88/22 |
Relatives | 714 40.9 (4–83) 49.3 % male | 131 (18.3) 79/52 | 87 (12.2) 42/45 | 41 (5.7) 22/19 | 119 (16.7) 45/74 | 130 (18.2) 64/66 | 25 (3.5) 8/17 | 63 (8.8) 32/31 |
Total sample | 988 28.4 (4–83) 57 % male | 391 (39.6) 277/114 | 101 (10.2) 55/46 | 41 (4.2) 22/19 | 249 (25.2) 141/108 | 187 (18.9) 109/78 | 37 (3.7) 17/20 | 173 (17.5) 120/53 |