Reconsidering Social-Behavioral Phenotypes in Wolf-Hirschhorn Syndrome: Presentation of Two Cases Diagnosed with...

Comorbidity of autism spectrum disorder (ASD) and Wolf-Hirschhorn syndrome (WHS) is not well understood. Prior research regarding social functioning in WHS is inconsistent and largely focuses on reporting general social difficulties or positive screening results rather than confirmed ASD diagnoses. This case series aims to promote reconsideration of ASD diagnoses in children with WHS and is the only report of ASD symptoms and confirmed diagnoses in WHS based on a comprehensive diagnostic assessment. Two children with WHS completed comprehensive clinical neuropsychological evaluations.

Neurodevelopmental skills (Mullen Scales of Early Learning), adaptive behavior (Adaptive Behavior Assessment System-3rd Edition; Behavior Assessment System for Children-3rd Edition (BASC-3)), emotional and behavioral functioning (BASC-3), and ASD symptomatology (Childhood Autism Rating Scale-2nd Edition; TELE-ASD-PEDS) were assessed.

Both children demonstrated multiple body system involvement consistent with typical medical complexities of WHS. Neuropsychological profiles of each patient revealed unique strengths and weaknesses, though each were consistent with diagnoses of intellectual developmental disorder and ASD.

This case series demonstrates the need to comprehensively assess rather than merely screen ASD symptomatology in children with WHS, taking into account their degree of cognitive impairment. Increased awareness of this co-occurring diagnosis can help promote early identification by diagnosticians and monitoring by other medical providers caring for children with WHS, thereby enabling families to connect to appropriate intervention services.