Cognitive phenotype of velocardiofacial syndrome: a review.
VCFS creates a predictable cognitive fingerprint: strong words, weak visual and executive skills, often with treatable ADHD or ASD.
01Research in Context
What this study did
Frederick and team read every paper on Velocardiofacial Syndrome (VCFS) and pulled out the cognitive patterns.
They looked at IQ scores, memory tests, attention tasks, and executive skills across all ages.
The review covers how the COMT gene might shape these thinking differences.
What they found
Kids with VCFS usually have stronger verbal skills than visual-spatial skills.
They struggle with memory, attention, and planning tasks.
The COMT gene variant appears to influence how severe these struggles are.
How this fits with other research
Niklasson et al. (2009) counted a large share of VCFS youth also meet criteria for ASD or ADHD. Frederick's review helps explain why — the same attention and executive gaps show up.
Pickering et al. (1985) tried to sort developmentally delayed kids by cognitive subtypes. Frederick's work shows VCFS gives its own clear subtype: verbal strength plus visuospatial weakness.
Denis et al. (2011) studied Williams Syndrome on the same Raven's matrices test. Both syndromes show unique error patterns, reminding us to look beyond total IQ scores.
Why it matters
When you assess a child with VCFS, expect verbal IQ to outrank performance IQ. Plan extra visual supports and break complex tasks into smaller steps. Screen for ADHD and ASD symptoms — they are common and treatable.
Want CEUs on This Topic?
The ABA Clubhouse has 60+ free CEUs — live every Wednesday. Ethics, supervision & clinical topics.
Join Free →Add visual schedules and chunk tasks for any VCFS learner, then screen for ADHD and ASD if not already done.
02At a glance
03Original abstract
The behavioural phenotype of velocardiofacial syndrome (VCFS), one of the most common human multiple anomaly syndromes, includes developmental disabilities, frequently including intellectual disability (ID) and high risk of diagnosis of psychotic disorders including schizophrenia. VCFS may offer a model of the relationship between ID and risk of major mental health difficulties. This paper reviews literature on the cognitive phenotype and its relationship with a polymorphism of the gene coding for catechol O-methyltransferase (COMT), a gene haploinsufficient in VCFS which modulates prefrontal dopamine levels. Principal features of the variable cognitive phenotype of VCFS in young people are ID, superiority of verbal over performance I.Q. and verbal over visuospatial memory, and difficulties with number and object magnitude comparisons, time perception and memory for serial order, and orienting of attention. Despite some improvements with age, problems with higher order attentional tasks involving planning persist, possibly modulated by COMT activity levels. Candidate cognitive endophenotypes include problems with retrieval of contextual information from memory and in executive control and focussing of attention. Longitudinal research using common core batteries of psychometric assessments, and experimental measures of cognitive function capable of direct translation for use with animal models, will further advance understanding of the developmental dynamics of VCFS.
Research in developmental disabilities, 2011 · doi:10.1016/j.ridd.2011.05.039