Elig.phs000682.v1.p1.1
Item
This study initially aimed to sequence 100 probands. A supplement was later submitted to sequence an additional 125 individuals, including affected children and their families. The inclusion and exclusion criteria for both sections of the study are listed below.
boolean
C1947946 (UMLS CUI [1,1])
C0008972 (UMLS CUI [1,2])
C1561491 (UMLS CUI [1,3])
C1265611 (UMLS CUI [1,4])
C0681850 (UMLS CUI [1,5])
C2348609 (UMLS CUI [2,1])
C1561491 (UMLS CUI [2,2])
C1524062 (UMLS CUI [2,3])
C0681850 (UMLS CUI [2,4])
C0522476 (UMLS CUI [2,5])
C0008059 (UMLS CUI [2,6])
C0015576 (UMLS CUI [2,7])
Elig.phs000682.v1.p1.2
Item
Our patient selection criteria was based on two hypotheses: first, that patients with rare highly penetrant genetic contributors to schizophrenia also have affected family members, and second, that because all known genes contributing to schizophrenia also contribute to other disorders such as mental retardation, epilepsy and autism, families that segregate more than one of these conditions will be most likely to contain highly penetrant genetic contributors. For this research, in order to maximize the chances of selecting patients with genetic variants with high penetrance, we recruited only schizophrenia or schizoaffective patients who manifest other serious neuropsychiatric problems in themselves or their close relatives. The following inclusion criteria was therefore used: (i) DSM-IV diagnosis of schizophrenia or schizoaffective disorder; (ii) at least one first or second degree relative (parent, child or sibling OR grandparent, grandchild, half-sibling, aunt, uncle, nephew or niece) with schizophrenia or schizoaffective disorder and (iii) EITHER (i) one of the following co-morbid conditions: mental retardation, seizure disorder, pervasive developmental disorder (PDD) in the proband OR (ii) at least two first, second or third degree relatives with mental retardation, seizure disorder or PDD. In addition to the proband, we also recruited at least one affected and one non-affected first or second degree relative with schizophrenia per proband, and as many other first, second or third degree relatives as were accessible and willing to enroll in the study. For each relative, we collected blood, administered the SCID to screen for mental disorders and collected information on other aspects of their medical history, education and employment history.
boolean
C1512571 (UMLS CUI [1,1])
C0030705 (UMLS CUI [1,2])
C0522498 (UMLS CUI [1,3])
C0314603 (UMLS CUI [1,4])
C1880177 (UMLS CUI [1,5])
C0036341 (UMLS CUI [1,6])
C0086282 (UMLS CUI [1,7])
C0522476 (UMLS CUI [1,8])
C1512571 (UMLS CUI [2,1])
C0205309 (UMLS CUI [2,2])
C0314603 (UMLS CUI [2,3])
C1880177 (UMLS CUI [2,4])
C0036341 (UMLS CUI [2,5])
C0205394 (UMLS CUI [2,6])
C0012634 (UMLS CUI [2,7])
C0025362 (UMLS CUI [2,8])
C0014544 (UMLS CUI [2,9])
C0522476 (UMLS CUI [2,10])
C0015576 (UMLS CUI [2,11])
C2700400 (UMLS CUI [2,12])
C0730319 (UMLS CUI [2,13])
C0242802 (UMLS CUI [3,1])
C0036341 (UMLS CUI [3,2])
C0036337 (UMLS CUI [3,3])
C1280464 (UMLS CUI [3,4])
C0205394 (UMLS CUI [3,5])
C3203509 (UMLS CUI [3,6])
C1512693 (UMLS CUI [4,1])
C0220952 (UMLS CUI [4,2])
C0036341 (UMLS CUI [4,3])
C1517194 (UMLS CUI [4,4])
C1519210 (UMLS CUI [4,5])
C0522476 (UMLS CUI [4,6])
C1524062 (UMLS CUI [4,7])
C0012634 (UMLS CUI [4,8])
C0025362 (UMLS CUI [4,9])
C0014544 (UMLS CUI [4,10])
C0524528 (UMLS CUI [4,11])
C1512693 (UMLS CUI [5,1])
C0220952 (UMLS CUI [5,2])
C0036341 (UMLS CUI [5,3])
C1517194 (UMLS CUI [5,4])
C1519210 (UMLS CUI [5,5])
C0522476 (UMLS CUI [5,6])
C1524031 (UMLS CUI [5,7])
C0205448 (UMLS CUI [5,8])
C1517194 (UMLS CUI [5,9])
C1519210 (UMLS CUI [5,10])
C3639750 (UMLS CUI [5,11])
C0011900 (UMLS CUI [5,12])
C0025362 (UMLS CUI [5,13])
C0014544 (UMLS CUI [5,14])
C0524528 (UMLS CUI [5,15])
C0242800 (UMLS CUI [6,1])
C0522476 (UMLS CUI [6,2])
C0522477 (UMLS CUI [6,3])
C1517194 (UMLS CUI [6,4])
C1519210 (UMLS CUI [6,5])
C0600109 (UMLS CUI [6,6])
C1516879 (UMLS CUI [6,7])
C0005834 (UMLS CUI [7,1])
C1537054 (UMLS CUI [7,2])
C0262926 (UMLS CUI [7,3])
C0013658 (UMLS CUI [7,4])
C0242271 (UMLS CUI [7,5])
Elig.phs000682.v1.p1.3
Item
Inclusion criteria (for the supplement study):
boolean
C1512693 (UMLS CUI [1,1])
Elig.phs000682.v1.p1.4
Item
Proband is under 18 years of age and meets an axis I DSM-IV-TR criteria for one of the following disorders: Obsessive-compulsive disorder, Schizophrenia, Bipolar Disorder, Attention-Deficient and Hyperactivity Disorder, Major Depression, or Sensory Integration Disorder.
boolean
C0001779 (UMLS CUI [1,1])
C0270287 (UMLS CUI [1,2])
C0220952 (UMLS CUI [1,3])
C0028768 (UMLS CUI [1,4])
C0005586 (UMLS CUI [1,5])
C0036341 (UMLS CUI [1,6])
C1263846 (UMLS CUI [1,7])
C1269683 (UMLS CUI [1,8])
C1960557 (UMLS CUI [1,9])
Elig.phs000682.v1.p1.5
Item
Proband must have two or more affected first or second degree relatives with at least one of the above listed Axis I qualifying disorders and/or co-morbidities of developmental delay, mental retardation, or seizures.
boolean
C1517194 (UMLS CUI [1,1])
C1519210 (UMLS CUI [1,2])
C0522476 (UMLS CUI [1,3])
C0270287 (UMLS CUI [1,4])
C1524062 (UMLS CUI [2,1])
C0012634 (UMLS CUI [2,2])
C0424605 (UMLS CUI [2,3])
C0025362 (UMLS CUI [2,4])
C0036572 (UMLS CUI [2,5])
Elig.phs000682.v1.p1.6
Item
Proband does not have a known diagnosis of genetic syndrome or disorder.
boolean
C1298908 (UMLS CUI [1,1])
C0011900 (UMLS CUI [1,2])
C0314603 (UMLS CUI [1,3])
C0039082 (UMLS CUI [1,4])
C0012634 (UMLS CUI [1,5])
Elig.phs000682.v1.p1.7
Item
Proband has negative karyotype and/or clinical chromosome microarray, negative newborn screen (if applied), negative basic metabolic screen including plasma amino acid, urine organic acid, and acylcarnitine profile, negative FMR1 DNA test or other genetic tests if apply.
boolean
C0205160 (UMLS CUI [1,1])
C1261273 (UMLS CUI [1,2])
C0200867 (UMLS CUI [1,3])
C1709016 (UMLS CUI [1,4])
C0205160 (UMLS CUI [2,1])
C0027617 (UMLS CUI [2,2])
C0205160 (UMLS CUI [3,1])
C0870883 (UMLS CUI [3,2])
C0220908 (UMLS CUI [3,3])
C0032105 (UMLS CUI [3,4])
C0002520 (UMLS CUI [3,5])
C0428157 (UMLS CUI [3,6])
C0523446 (UMLS CUI [3,7])
C0205160 (UMLS CUI [3,8])
C1414649 (UMLS CUI [3,9])
C1658606 (UMLS CUI [3,10])
C0205160 (UMLS CUI [3,11])
C0205394 (UMLS CUI [3,12])
C0679560 (UMLS CUI [3,13])
Elig.phs000682.v1.p1.8
Item
Parents, unaffected siblings, and other extended family members indicated are available for the study.
boolean
C0470187 (UMLS CUI [1,1])
C0030551 (UMLS CUI [1,2])
C0037047 (UMLS CUI [1,3])
C0086282 (UMLS CUI [1,4])
C0015341 (UMLS CUI [1,5])
Elig.phs000682.v1.p1.9
Item
Exclusion criteria
boolean
C0680251 (UMLS CUI [1,1])
Elig.phs000682.v1.p1.10
Item
Proband has a significant history of prematurity (birth weight <1500g).
boolean
C0262926 (UMLS CUI [1,1])
C0151526 (UMLS CUI [1,2])
C0005612 (UMLS CUI [1,3])
Elig.phs000682.v1.p1.11
Item
Proband has a history of brain injury including hypoxia, CNS infection, accident, and toxin, etc.
boolean
C0262926 (UMLS CUI [1,1])
C0242184 (UMLS CUI [1,2])
C0007684 (UMLS CUI [1,3])
C0876926 (UMLS CUI [1,4])
C0040549 (UMLS CUI [1,5])
Elig.phs000682.v1.p1.12
Item
Proband is confirmed or strongly suspected for a known genetic syndrome.
boolean
C0242114 (UMLS CUI [1,1])
C0750484 (UMLS CUI [1,2])
C0205309 (UMLS CUI [1,3])
C0019247 (UMLS CUI [1,4])
Elig.phs000682.v1.p1.13
Item
Abnormal molecular or genetic study such as finding of known pathologic CNVs or abnormal biochemical profile of unclear significance.
boolean
C0205161 (UMLS CUI [1,1])
C1513380 (UMLS CUI [1,2])
C0813145 (UMLS CUI [1,3])
C1521733 (UMLS CUI [1,4])
C3516217 (UMLS CUI [1,5])
C0205474 (UMLS CUI [1,6])
C2022317 (UMLS CUI [1,7])
Elig.phs000682.v1.p1.14
Item
Proband has severe and profound mental retardation.
boolean
C0205082 (UMLS CUI [1,1])
C0020796 (UMLS CUI [1,2])
Elig.phs000682.v1.p1.15
Item
Immediate and extended family members are not available for study.
boolean
C0686905 (UMLS CUI [1,1])
C0015341 (UMLS CUI [1,2])
C2371717 (UMLS CUI [1,3])