All patients underwent multidisciplinary developmental assessments prior to a diagnosis of a pervasive developmental disorder being established according to DSM-IV-TR criteria. Multidisciplinary assessment consisted of physical therapy, occupational therapy and/or speech pathologist assessment, in addition to assessment by a pediatrician. Need for therapist assessment was initially ascertained through a nurse-led phone-based intake interview of patients, and subsequently based on the recommendations of the pediatrician. Diagnostic formulation for all patients was made after multidisciplinary assessments, and following discussion of each patient in a multidisciplinary meeting.
CMA testing was performed using the Affymetrix Whole-Genome 2.7M Array, and breakpoints were reported using NCBI36/hg18 coordinates. Only clinically reported variants were evaluated in this study. Karyotype was performed using a standard 550 bands per haploid set Giemsa-banded method. Size of the FMR1 repeat expansion was assessed using the PCR method, and confirmed using Southern blot in affected individuals.
CMA testing was performed using the Affymetrix Whole-Genome 2.7M Array, and breakpoints were reported using NCBI36/hg18 coordinates. Only clinically reported variants were evaluated in this study. Karyotype was performed using a standard 550 bands per haploid set Giemsa-banded method. Size of the FMR1 repeat expansion was assessed using the PCR method, and confirmed using Southern blot in affected individuals.