Behaviour in Cornelia de Lange syndrome: a systematic review

Area of Science:

• Behavioral science
• Genetics
• Developmental pediatrics

Background:

• Cornelia de Lange syndrome (CdLS) presents significant developmental challenges.
• Understanding behavior in CdLS is critical for effective intervention.

Purpose of the Study:

• To systematically review current knowledge on behavior in individuals with CdLS.
• To identify common behavioral characteristics and associated conditions.

Main Methods:

• Systematic literature search from 1946 to 2015 for studies on autism, self-injury, and cognition in CdLS.
• Inclusion of 43 papers, with quality assessment using adjusted Cochrane criteria.

Main Results:

• Most participants had severe/profound developmental delay.
• High heterogeneity in methodology, quality, and reporting of autism.
• Self-injurious behavior noted in 15 studies; physical conditions (hearing, vision) in 21.
• Limited information on medication in nine studies.

Conclusions:

• Heterogeneous assessment methods hinder result comparison.
• Need for uniform methodology to improve understanding of CdLS behavioral phenotypes.
• Proposal for a criterion standard in behavioral and developmental assessment for CdLS.