Age-related Behavioural Change in Cornelia de Lange and Cri du Chat Syndromes: A Seven Year Follow-up Study.
Lisa Cochran, Alice Welham, Chris Oliver and 2 others
PMID 30941551WHAT IT FOUND
Adaptive skills plateaued while receptive language improved over seven years in Cornelia de Lange and Cri du Chat syndromes.
Social impairments worsened specifically in Cornelia de Lange. Individual change was highly variable, so group trends do not predict outcomes for a single patient.
Key findings
01Adaptive behaviour standard scores declined significantly in both groups, but age-equivalence scores remained stable, suggesting skills plateaued rather than deteriorated.
02Receptive language age-equivalence scores improved significantly in both groups over the follow-up period.
03The proportion of individuals with Cornelia de Lange syndrome meeting cut-offs for autism and ASD on the ADOS increased significantly, while social impairment scores on the SCQ also worsened relative to the contrast group.
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 sample sizes were small, particularly for the CdCS group, which limits the power to detect subtle changes. Genetic data was not collected, so it is unknown whether specific mutations influenced the trajectories of change. The wide age range at baseline means that participants were at different developmental stages, making it difficult to pinpoint specific age-related critical periods for change. Attrition was higher in the CdCS group, which may bias the comparison. There was inconsistency between the SCQ and ADOS results for autism symptoms, raising questions about the concurrent validity of these measures in these specific syndromes.
Declared interests
The study was funded by Cerebra and the Cornelia de Lange Syndrome Foundation. The authors declared no conflicts of interest.
The easy way to misread this
Do not assume that declining standard scores in adaptive behaviour represent a loss of skills or neurodegeneration. The age-equivalence scores remained stable, indicating that the individuals' skills plateaued while their peers continued to develop, which is a different clinical picture than regression.