CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism, ADHD, repetitive behaviors and sensory symptoms.

Researchers studied 11 people with a rare genetic condition called CHAMP1 disorder to better understand their behaviors and development. They found that 1 in 3 had autism, and 6 out of 10 had ADHD. Many showed repetitive behaviors and sought out sensory experiences. Most children with ADHD weren't receiving treatment, which suggests they might benefit from additional support. This was the first detailed study of how CHAMP1 disorder affects behavior and learning.

This study provides the first comprehensive neurobehavioral assessment of 11 individuals with CHAMP1 disorder using remote clinical evaluations and standardized questionnaires. The research revealed that 33% of participants met criteria for autism spectrum disorder, while 60% qualified for ADHD diagnosis. Repetitive behaviors and sensory-seeking symptoms were prominent features across the cohort. The study utilized approximately 12 hours of remote clinician-administered assessments per participant, representing a novel approach to phenotyping rare genetic disorders.

High rates of ADHD were identified alongside relatively low treatment rates, suggesting potential intervention opportunities. This research establishes important baseline neurobehavioral characteristics for CHAMP1 disorder and demonstrates the feasibility of remote deep phenotyping methodologies.

Results suggest need for routine autism and ADHD screening in CHAMP1 disorder. High ADHD prevalence with low treatment rates indicates potential for improved outcomes through targeted interventions. Sensory and repetitive behavior symptoms should be considered in treatment planning and family support strategies.

Small sample size of 11 participants limits generalizability. Remote assessment methodology may not capture all behavioral nuances compared to in-person evaluation. The study represents preliminary phenotyping data for this recently described genetic syndrome.

CHAMP1-related neurodevelopmental disorder, or CHAMP1 disorder, is a recently described genetic syndrome associated with developmental delay, intellectual disability, behavioral symptoms, medical comorbidities, and dysmorphic features. To date, literature has focused on medical review and dysmorphology but has yet to prospectively assess neurobehavioral core domains such as autism, or behavioral, language, cognitive, and sensory features. Here, we present deep phenotyping results for 11 individuals with CHAMP1 disorder, based on approximately 12 hours of remote clinician-administered assessments and standardized caregiver questionnaires. Diagnoses of autism spectrum disorder were given to 33% of participants; repetitive behaviors and sensory-seeking symptoms were prominent in this cohort.

In addition, 60% of participants met the criteria for attention-deficit/hyperactivity disorder (ADHD). High rates of ADHD and relatively low rates of treatment suggest potential areas for intervention. This study represents the first prospective phenotyping analysis of individuals with CHAMP1 disorder. The utility of specific measures as clinical endpoints, as well as benefits and limitations of remote phenotyping, are described.