Children with chromosome 14 aberrations usually show developmental delays, intellectual disability, neurological disorders and behaviour problems. The aim of the present study is to describe the developmental trajectories of the communicative skills of children with chromosome 14 aberrations, considering the possible relationships between the patterns of language development and the children’s clinical characteristics (e.g., intellectual disability or autistic traits). Longitudinal data on five children (four with linear deletions and one with ring 14 syndrome) followed for 3 years are presented. Four out of five children showed profound intellectual disability, and three out of five showed autistic traits. A high individual variability was found in both vocal and gestural productions. However, only a modest increase in the children’s communicative and symbolic skills was detected over time (e.g., in the quality of preverbal productions).
Conclusion: The increase of communicative skills in children with chromosome 14 aberration is very slow. We need to consider the children’s characteristics, in terms of type of chromosome aberration, level of intellectual disability and presence/absence of autistic traits, to predict their possible linguistic outcomes and to give a more realistic expectation to their parents.
What is known:
• The communicative skills of children with chromosome 14 aberrations are usually impaired.
• The presence of autistic traits is frequent in these children.
What is new:
• The increase of communicative skills in children with chromosome 14 aberrations is very slow.
• The level of intellectual disability and the presence/absence of autistic traits appeared to have a role in predicting the possible linguistic outcomes in children with chromosome 14 aberrations.
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Autism Diagnostic Observation Schedule
Comparative Genomic Hybridisation
Communication and Symbolic Behaviour Scales-Developmental Profile
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We gratefully acknowledge the financial support of the association ‘Ring14 Italia Onlus’ (Reggio Emilia, Italy). We are also grateful to the children and their parents for participating in this study.
Laura Zampini collected and analysed data on children’s linguistic and psychomotor development, wrote the manuscript and approved the final draft.
Paola Zanchi collected and analysed data on children’s linguistic and psychomotor development, critically revised the manuscript and approved the final draft.
Berardo Rinaldi was responsible for data collection on children’s medical and genetic characteristics, critically revised the manuscript and approved the final draft.
Francesca Novara was responsible for data collection on children’s genetic characteristics, critically revised the manuscript and approved the final draft.
Orsetta Zuffardi was responsible for data collection on children’s genetic characteristics, critically revised the manuscript and approved the final draft.
The study has been financially supported by the Italian association ‘Ring14 Italia Onlus’ (Reggio Emilia, Italy).
Conflict of interest
The authors declare that they have no conflict of interest.
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all the parents of the participants included in the study.
Communicated by Beat Steinmann
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Zampini, L., Zanchi, P., Rinaldi, B. et al. Developmental trends of communicative skills in children with chromosome 14 aberrations. Eur J Pediatr 176, 455–464 (2017). https://doi.org/10.1007/s00431-017-2859-2
- Chromosome 14 aberrations
- Ring 14 syndrome
- Intellectual disability
- Autistic traits