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Table 1 Study approach

From: Prospective and detailed behavioral phenotyping in DDX3X syndrome

Domain

Measure

Intellectual and Adaptive Functioning

Stanford-Binet Intelligence Scales, Fifth Edition

Differential Abilities Scales, Second Edition (DAS-II)

Mullen Scales of Early Learning

Vineland Adaptive Behavior Scales, Third Edition (Vineland-3)

Motor Functioning

Autism Diagnostic Interview-Revised (ADI-R) subscales, ADI Regression supplement

Clinical evaluation by a psychiatrist

Vineland-3

Beery-Buktenica Developmental Test of Visual-Motor Integration, Sixth Edition (VMI-6)

Developmental Coordination Disorder Questionnaire (DCDQ)

Expressive and Receptive Language

ADI-R subscales

Expressive Vocabulary Test, Second Edition

Peabody Picture Vocabulary Test, Fourth Edition

Vineland-3

MacArthur-Bates Communicative Development Inventory

ASD Symptomatology

Clinical evaluation by a psychiatrist

ADI-R

Autism Diagnostic Observation Schedule, Second Edition (ADOS-2)

Social Responsiveness Scale, Second Edition (SRS-2)

Repetitive Behavior Scale-Revised (RBS-R)

Sensory Features

Sensory Assessment for Neurodevelopmental Disorders (SAND)

Short Sensory Profile (SSP)

Behavioral Comorbidities

Achenbach Child Behavior Checklist (CBCL)

Aberrant Behavior Checklist

Vineland-3

Clinical evaluation by a psychiatrist

Medical Evaluation

Medical and psychiatric history/evaluation

Neurological exam

Dysmorphology exam

Review of neuroimaging

Pervasive Developmental Disorder Behavior Inventory