The behavioural phenotype of Cornelia de Lange Syndrome: a study of 56 individuals.
CdLS behavior is a mixed bag—plan for hyperactivity, anxiety, self-injury, and autism-like signs that differ widely across clients.
01Research in Context
What this study did
Emerson et al. (2007) watched 56 people with Cornelia de Lange Syndrome (CdLS). They wrote down every behavior, mood, and skill they saw. The team wanted a clear picture of how CdLS can look different from one person to the next.
What they found
No two people looked the same. Some were very active, some were quiet and anxious. Many showed hand-flapping or rocking like autism. Self-biting and hair-pulling also popped up. The authors say CdLS has 'high variability'—a fancy way of saying expect surprises.
How this fits with other research
Richards et al. (2009) zoomed in on one slice of the same picture. They found that right after eye contact or speaking, kids with CdLS show a quick spike in anxiety. This adds detail to the broad 'anxiety' box that E et al. drew.
Sarimski (2007) looked even earlier. Babies with CdLS who rarely made eye contact were the same ones who later struggled with social skills. That finding turns the variability E et al. saw into a forecast you can use at intake.
Rieth et al. (2022) mapped Down syndrome plus autism. Like E et al., they found a genetic syndrome that can carry an 'atypical autism' tag. Both papers warn us: check for autism features, but do not assume they will look like idiopathic ASD.
Why it matters
You can not write one behavior plan for 'CdLS.' Screen each learner for hyperactivity, anxiety, and self-injury, then build separate modules. Track eye contact in babies; if it is low, add extra social teaching early. After any social demand—eye contact, answering a question—give a brief break or calming task to head off the anxiety spike Caroline et al. caught. Treat the profile, not the label.
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02At a glance
03Original abstract
BACKGROUND: Few studies have investigated functional and behavioural variables of Cornelia de Lange Syndrome (CdLS) in a large sample of individuals. The aim of this study is to provide greater insight into the clinical, behavioural and cognitive characteristics that are associated with CdLS. METHODS: In total, 56 individuals with CdLS participated in the study. During hospitalization, their mothers received a number of questionnaires to complete. The behavioural phenotype was investigated using the following scales: Developmental Behaviour Scale Primary Carer Version; Autism Behaviour Checklist; Childhood Autism Rating Scale. RESULTS: Our participants demonstrated some behavioural characteristics that are frequently associated with CdLS (hyperactivity, attention disorder, anxiety, compulsive disorders, self-injurious behaviour and autistic-like features). Our findings demonstrate the variability of behavioural characteristics in CdLS in addition to highlighting the contribution of some variables to both the CdLS behavioural profile and the developmental trajectory of the behavioural pattern. CONCLUSIONS: The behavioural characteristics identified in our sample were correlated with some clinical and functional aspects (chronological age, cognitive level and clinical phenotype). The variability of the behavioural profile in CdLS reflected the wide variability in cognitive and adaptive functioning across individuals and led us to conclude that there may be multiple behavioural phenotypes associated with the syndrome. Further comparative studies between CdLS and individuals with intellectual disability or other genetic syndromes may help to provide further understanding of the behavioural phenotype of CdLS.
Journal of intellectual disability research : JIDR, 2007 · doi:10.1111/j.1365-2788.2007.00977.x