The Homozygosity Mapping Collaborative for Autism (HMCA) (21) has recruited 104 families (79 simplex and 25 multiplex) from the Arabic Middle East, Turkey, and Pakistan (table S1 and fig. S1), of which 88 pedigrees (69 simplex and 19 multiplex) have cousin marriages (i.e., parental consanguinity). To establish thorough research diagnoses, international participating clinicians received training in accepted autism research scales. When research scales were not available in the language of their country, these clinicians enrolled patients and family members based on DSM-IV-TR diagnoses that were informed by these clinicians’ experience with validated research scales. Additional direct assessments of patients were conducted by clinical members of the Boston team, which included developmental psychologists (J.W., E.L., R.M.J.), pediatric neurologists (G.M., A.P.), a clinical geneticist (W.H.T.), and a neuropsychiatrist (E.M.M.). Reliability between clinician assessments was high; a description of clinical methods is available in (22).
