Purpose: The purpose of this investigation was to examine the impact of Chromosome 4p- syndrome on the communication and expressive language phenotype of a large cross-cultural population of children, adolescents, and adults.
Method: A large-scale survey study was conducted and a descriptive research design was used to analyze quantitative and qualitative data regarding the communication and expressive language manifestations of 200 children, youth, and adults from 16 countries and Puerto Rico who had been diagnosed with 4p conditions, including Wolf-Hirschhorn syndrome (WHS), Pitt-Rogers-Danks syndrome (PRDS), Proximal 4p Deletion syndrome, and complex chromosomal rearrangements associated with 4p-.
Results: Individuals with Chromosome 4p- syndrome represent a heterogeneous population with complex phenotypic profiles. The majority of the participants exhibited communication and expressive language skills below the 36-month developmental functioning level. A relatively small cohort of the study population exhibited advanced expressive language skills, a finding not reported in the professional literature.
Conclusion: Results broaden the spectrum of expressive language skills associated with Chromosome 4p- syndrome and highlight the communication potential of a subset of individuals with 4p abnormalities for development of advanced language structures. It is hypothesized that the largest 4p deletion, which includes the 4p16.3 band and contiguous gene regions, results in the most severely affected expressive language phenotype.