Children with Down syndrome who experience developmental skill loss, characterization, and phenomenology: A case series

Susana Bernad-Ripoll, Meghan O'Neill, George T. Capone*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Loss of previously acquired developmental skills in children with Down syndrome (DS) is not a well characterized phenomenon. We identified 20 confirmed cases of childhood-onset skill loss for descriptive analysis. Eligible participants were recruited from a specialty clinic for persons with DS at a large medical center. Age and gender-matched participants also with DS but without skill loss were used as a comparison group. Case and control participants were between 3 and 14 years (mean 7.6 yr) at the time of evaluation. Loss of previously acquired communication, social-communication, and play skills was experienced by all cases, as well as new-onset or intensification of pre-existing maladaptive behaviors. The Aberrant Behavior Checklist (ABC)-community was helpful in distinguishing group differences in maladaptive behavior among cases and controls. All cases met DSMIV criteria for autism. Developmental skill loss associated with autism is an extreme example of within-group phenotypic variability and needs to be the focus of further research.

Original languageEnglish (US)
Article numbere32077
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Volume193
Issue number4
DOIs
StatePublished - Dec 2023

Keywords

  • Down syndrome
  • aberrant behavior checklist
  • autism spectrum disorder
  • behavior phenotype
  • developmental regression
  • regression disorder
  • skill loss

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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