Table 4B.
Diagnostic tests part 2.
| Paper/diagnostic test | Social communication questionnaire | Shortened CPEA regression interview | ICD-10 | PARS | Japanese version of the Asperger's questionnaire | Japanese version of the autism spectrum Quotient (AQ-J) | Japanese versions of WAIS-III | PPVT | Inclusion criteria | Exclusion criteria |
|---|---|---|---|---|---|---|---|---|---|---|
| Alter et al., 2011 | For Probands: A negative Fragile X DNA test, impairment in language | For Probands: significant prenatal history (prematurity, 35 weeks, intraventricular hemorrhage, severe asphyxia, or cerebral palsy), serious CNS abnormality, known genetic or metabolic disorder, non-classic forms of autism were excluded, including autism with regression and Asperger's syndrome, a higher functioning form of autism where individuals have language skills within the normal range | ||||||||
| Emanuele et al., 2010 | For controls: no past or present history of any psychiatric disorder and none of them had ever taken medications for psychiatric conditions | For controls: subjects with axis-I diagnosis of first-degree relatives | ||||||||
| Enstrom et al., 2009 | ASD: children who scored above the cut-off for the ADOS modules 1 and 2 for ASD and met the criteria for autism | Children who were ill at the time of the study, or had a temperature above 98.9°F, or were prescribed anti-psychotics, or had a known medical disorder or primary diagnosis (e.g., Fragile X or Rett syndrome) | ||||||||
| Féron et al., 2016 | ✓ | For controls: neither presenting a neuropsychiatric disorder nor taking medication | ||||||||
| Ginsberg et al., 2012 | Male gender; autism diagnosis by a validated psychiatric/psychologic instrument; and the availability of sufficient fresh frozen tissue available for genome-wide methylation analysis, bisulfite sequencing, and gene expression studies | Formalin-fixation of brains, brains from individuals with a medication history of medications known or suspected to have effects on methylation; gross structural abnormalities of the brain; brains from individuals with a complicated birth history and/or evidence of pre- or perinatal hypoxia; history of major head trauma; diagnosis of Rett syndrome, Fragile X syndrome, tuberous sclerosis, or other syndromic process; or any known or likely pathologic cytogenetic abnormality identified by either routine karyotyping or chromosomal microarray analysis | ||||||||
| Hu et al., 2006 | ✓ | |||||||||
| Hu et al., 2009 | All females, individuals with cognitive impairment, those with known genetic or chromosomal abnormalities (e.g., Fragile X, Retts, tuberous sclerosis, chromosome 15q11-q13 duplication), those born prematurely (< 35 weeks gestation), those with diagnosed comorbid psychiatric disorders (e.g., bipolar disorder, obsessive compulsive disorder, severe anxiety) | |||||||||
| James et al., 2014 | For Case Donors: PDD-NOS, Asperger's, Rett or Fragile X For Control Donors: Previous medical history of neurologic disorders, seizures or mental retardation | |||||||||
| Kong et al., 2013 | ASD: No known genetic or syndromic disorders | For controls: chronic disease such as infectious disease, diabetes, cardiovascular disease, and developmental disorder or neurological disorder | ||||||||
| Kuwano et al., 2011 | ✓ | ✓ | For controls: serious physical or mental disorders including ASD in the past and at present | |||||||
| Prandini et al., 2014 | ASD: meets Diagnostic and Statistical Manual of Mental Disorders, fourth edition criteria for Autistic Disorder, Asperger's Disorder, or Pervasive Developmental Disorder Not Otherwise Specified (PDD NOS); reaches the score cutoff in Autism Diagnosis Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS); is at least 4 years old at the time of entering the research project; has at least one parent or legal guardian giving voluntary written consent for him/her to participate in the research project, and gives his/her assent when possible | For ASD: diagnosis of Rett syndrome or childhood disintegrative disorder, history of serious head injury, encephalitis or tumors, profound mental retardation (intelligence quotient < 20), and age more than 18 years | ||||||||
| Segura et al., 2015 | For ASD: Had a total IQ score above 70 For controls: no somatic or neurological disease and without medication | |||||||||
| Talebizadeh et al., 2014 (taken from AGRE) | ✓ | |||||||||
| Taurines et al., 2011 | For controls: if had somatic or neurological disease or were taking medication | |||||||||
| Tian et al., 2011 | ✓ | For Autism: meeting criteria on the communication, social, and repetitive behavior domains of the ADI-R, and scoring at or above the total cutoff for autistic disorder on the ADOS module 1 or 2 | ||||||||
| Walker et al., 2013 | For controls: identifiable gastrointestinal pathology | |||||||||
| Williams et al., 2011 | ✓ | For controls: Developmental disturbances, including ASD | ||||||||
| Yasuda et al., 2011 | ✓ | ✓ | For healthy controls: neurological or medical conditions that could potentially affect the central nervous system, had any psychiatric diseases and/or received psychiatric medication, had first- or second-degree relatives with psychiatric disease or presented with an IQ < 70 | |||||||
| Zhubi et al., 2014- brain samples taken from the Harvard Brain Tissue Resource Center | For Control donors: free of neurological disorders, seizures, mentalretardation, dementia | For Case Donors: Asperger's syndrome Fragile–X syndrome, RTT, pervasive developmental disorder not otherwise specified, and 15q11-q13 duplication |