Characterisation of Challenging Behaviours and Associated Genetic and Neurological Features in Cardiofaciocutaneous Syndrome.
Dante J Rogers, Rebekah L Hudock, Adele F Dimian and 3 others
PMID 40387217WHAT IT FOUND
Caregivers of 61 children and adults with cardiofaciocutaneous syndrome reported high rates of challenging behaviour.
Behaviours peaked in adolescence. Escape and physical discomfort were the most common functions. Pain, sleep problems, and sensory differences were linked to higher behaviour frequency.
Key findings
0177% of the cohort met criteria for challenging behaviours, with self-injury and aggression being most prevalent.
02Escape and physical discomfort were the functions most strongly associated with self-injury and aggression, rather than attention-seeking.
03Individuals with clinically significant sleep problems, higher pain interference, and pronounced sensory differences exhibited higher levels of challenging behaviours.
STILL TO COME
How it was doneWhat they foundWhat it means for PTsWhat it means for OTsWhat it means for SLPs
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What it does not show
The study is cross-sectional, so it cannot determine if behaviours change over time within the same individual or if specific interventions reduce them. All data relied on caregiver report, which may introduce bias or inaccuracies compared to direct observation. Participants were recruited through advocacy groups, which may select for families more connected to the CFCS community and potentially skew the sample. Some participants had not yet received formal diagnoses for intellectual disability or autism, so these comorbidities may be underestimated.
Declared interests
The authors declared no conflicts of interest. Funding was provided by CFC International, the University of Minnesota Department of Pediatrics, and the National Center for Advancing Translational Sciences.
The easy way to misread this
Do not assume that challenging behaviours in CFCS are primarily maintained by attention or social manipulation. The data indicates that escape from demands and physical discomfort (pain/sensory issues) are the most common functions, so interventions targeting social reinforcement may miss the underlying cause.