Objective: Standardized postmortem assessment tool administered to donor families to confirm autism diagnosis based on four domains of behavioral and developmental criteria
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Western Psychological Services • N/A • N/A • N/A
N/A • N/A
Partek • N/A
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Collect medical records of autistic subjects consisting of psychological, behavioral, neurological and psychiatric evaluation reports after subjects' deaths
Note: Records obtained postmortem
“The source of our clinical data was the medical records of the autistic subjects, which consisted of psychological, behavioral, neurological and psychiatric evaluation reports. All of the records were obtained after the subjects' deaths.”
Administer the Autism Diagnostic Interview-Revised to each donor family as a standardized assessment tool to confirm autism diagnosis on a postmortem basis
Note: Administered to families of deceased subjects
“The Autism Diagnostic Interview-Revised (ADI-R) was administered to each donor family as a standardized assessment tool in order to confirm the diagnosis on a postmortem basis.”
Evaluate and score four domains: (a) qualitative abnormalities in reciprocal social interaction; (b) qualitative abnormalities in verbal and nonverbal communication; (c) restricted, repetitive and stereotyped patterns of behavior; and (d) abnormality of development evident at or before 36 months
Note: Inclusion of subject in study based on summary of scores across all four domains
“Inclusion of the subject in this study was based on a summary of scores of four domains: (a) qualitative abnormalities in reciprocal social interaction; (b) qualitative abnormalities in verbal and nonverbal communication; (c) restricted, repetitive and stereotyped patterns of behavior; and (d) abnormality of development evident at or before 36 months”
Confirm that subjects meet ADI-R criteria for autism based on domain scores
Note: All 13 autistic subjects in final cohort met ADI-R criteria for autism
“All 13 autistic subjects met ADI-R criteria for autism.”
Administer Wechsler Intelligence Scale for Children III and/or Woodcock-Johnson Tests of Achievement-Revised to assess intellectual functioning
Note: Available for some subjects only; eight subjects diagnosed with intellectual disability (61%)
“For some subjects, the intellectual evaluation was available and was based on the Wechsler Intelligence Scale for Children III and the Woodcock-Johnson Tests of Achievement-Revised”
Record presence of seizures, age of onset, and type of seizure activity
Note: Six of 13 autistic subjects had seizures (46%); five cases had onset from 14 months to 5 years; one subject had abnormal EEG without seizures
“Six of 13 autistic subjects had seizures (46%). In five cases, the age of onset of seizures was from 14 months to 5 years of age.”
Exclude subjects based on clinical and neuropathological criteria: two cases excluded based on ADI-R results (one atypical autism, one not meeting ADI-R criteria); five autistic cases excluded due to severe postmortem autolytic changes, severe global hypoxic encephalopathy, or multiple microinfarcts; four control brains excluded due to severe postmortem autolysis
Note: Exclusion criteria applied to reduce cohort from 38 to 27 brains
“Based on the results of the ADI-R, two cases were excluded, including one case diagnosed with atypical autism, and one that did not meet ADI-R criteria. Based on postmortem evaluation, five more autistic cases were excluded: one due to severe postmortem autolytic changes, three due to severe global hypoxic encephalopathy related to the mechanism of death, and one due to multiple microinfarcts.”
Conduct copy number variation analysis using quantiSNAP and Partek HMM computational algorithms on three autistic subjects
Note: Results posted on ATP portal by Center for Applied Genomics, Toronto
“For three of the 13 autistic subjects, the list of high-confidence copy number variations identified both by quantiSNAP and Partek HMM computational algorithm was posted on the ATP portal”
Postmortem brain donors. Originally 38 brains (20 autistic, 18 control) assigned; reduced to 27 after exclusion criteria applied. 13 autistic subjects and 14 control subjects in final cohort.