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. 2017 Jan 5;10:601. doi: 10.3389/fnins.2016.00601

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