Age-related hallmarks of psychopathology in Cornelia de Lange and Rubinstein-Taybi syndromes.
Expect anxiety to grow as kids with CdLS or RSTS age—screen more when autistic traits are present.
01Research in Context
What this study did
Giani et al. (2022) tracked anxiety across the lifespan in two rare syndromes: Cornelia de Lange (CdLS) and Rubinstein-Taybi (RSTS).
They looked at how worry, fear, and autistic traits change as kids, teens, and adults age.
The design was cross-sectional: different age groups were tested once, not followed over time.
What they found
Anxiety goes up with age in both syndromes.
The rise is strongest in people who also show more autistic traits like rigid routines or sensory quirks.
Results say: screen for anxiety early and repeat the screen as the child grows.
How this fits with other research
Galéra et al. (2009) saw no extra anxiety in young children with RSTS. Ludovica’s 2022 data now show anxiety climbs later. The two papers don’t clash—they simply map different ages.
Richards et al. (2017) let teens with ASD speak for themselves and found the same anxiety–repetitive-behavior link. Ludovica confirms the pattern holds in CdLS/RSTS, even when parents are the reporters.
Matson et al. (2011) found higher anxiety in kids with motor coordination disorder. Ludovica widens the lens: rising anxiety also appears in CdLS/RSTS, pointing to a shared developmental risk across syndromes.
Why it matters
If you work with CdLS or RSTS, add an anxiety checklist at every birthday. Ask about social worry, separation fear, and insistence on sameness. When autistic traits are present, plan to screen more often and consider CBT or environmental supports before anxiety limits learning or daily routines.
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02At a glance
03Original abstract
BACKGROUND AND AIM: There is mounting evidence highlighting that Cornelia de Lange Syndrome (CdLS) and Rubinstein-Taybi Syndrome's (RSTS) behavioral phenotypes are not stable over individual developmental trajectories and that several psychiatric disorders might arise with age. Our study aims to examine the specific hallmarks of psychopathology and behavioral phenotypes in four different age ranges: infancy and toddlerhood, early childhood, middle childhood, and adolescence, in both genetic syndromes. METHOD: The sample included 44 patients with CdLS (48% boys, age = 6.67 ± 4.36) and 31 with RSTS (48% boys, age = 6.89 ± 4.58) recruited through follow-ups. Cognitive, behavioral, and autism assessments were carried out with Griffith's scales or the Leiter-R, the Child Behavior Checklist, and the Child Autism Rating Scales 2. Multiple ANOVA 2 × 4 were run to outline behavioral phenotypic age-related syndromic markers and ANCOVA to value the weight of IQ and ASD-related traits on the psychopathological outcome. RESULTS: Findings showed that anxiety is a crucial phenotypic hallmark, independent of IQ but associated with autistic traits, that increases from infancy to adolescence in both CdLS and RSTS. CONCLUSION AND IMPLICATIONS: Being aware of the developmental challenges that growing children are called to face is essential for drawing up proper standards of assessment turning into target age-related interventions, ensuring these patients personalized healthcare and improvement in life quality.
Research in developmental disabilities, 2022 · doi:10.1016/j.ridd.2022.104235