Emergence of developmental delay in infants and toddlers with an fmr1 mutation

Anne C. Wheeler*, Angela Gwaltney, Melissa Raspa, Katherine C. Okoniewski, Elizabeth Berry-Kravis, Kelly N. Botteron, Dejan Budimirovic, Heather Cody Hazlett, David Hessl, Molly Losh, Gary E. Martin, Susan M. Rivera, Jane E. Roberts, Donald B. Bailey

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

17 Scopus citations

Abstract

BACKGROUND: Children with FMR1 gene expansions are known to experience a range of developmental challenges, including fragile X syndrome. However, little is known about early development and symptom onset, information that is critical to guide earlier identification, more accurate prognoses, and improved treatment options. METHODS: Data from 8 unique studies that used the Mullen Scales of Early Learning to assess children with an FMR1 gene expansion were combined to create a data set of 1178 observations of >500 young children. Linear mixed modeling was used to explore developmental trajectories, symptom onset, and unique developmental profiles of children ,5 years of age. RESULTS: Boys with an FMR1 gene full mutation showed delays in early learning, motor skills, and language development as young as 6 months of age, and both sexes with a full mutation were delayed on all developmental domains by their second birthday. Boys with a full mutation continued to gain skills over early childhood at around half the rate of their typically developing peers; girls with a full mutation showed growth at around three-quarters of the rate of their typically developing peers. Although children with a premutation were mostly typical in their developmental profiles and trajectories, mild but significant delays in fine motor skills by 18 months were detected. CONCLUSIONS: Children with the FMR1 gene full mutation demonstrate significant developmental challenges within the first 2 years of life, suggesting that earlier identification is needed to facilitate earlier implementation of interventions and therapeutics to maximize effectiveness.

Original languageEnglish (US)
Article numbere2020011528
JournalPediatrics
Volume147
Issue number5
DOIs
StatePublished - May 1 2021

Funding

FUNDING: Preparation of this article was provided by the John Merck Fund. Collection of data included in this study came from subjects screened for the Network for Excellence in Neuroscience Clinical Trials NN107 FX-LEARN (funded by U01NS096767 to Dr Berry-Kravis), participants recruited under National Institutes of Health (NIH) grant 1R01HD056031 (to Dr Rivera), participants recruited under NIH grant R01HD038819 (to Dr Losh and Dr Martin) and additional clinical assessment and data processing supported by R01MH091131 (to Dr Losh), participants recruited under NIH grants R01MH1075732 and R01MH90194 (to Dr Roberts), participants recruited under NIH grant P30-HD003110 (to Dr Bailey), and participants recruited under Office of Special Education Programs grant H324B010041 (to Dr Wheeler). Funded by the National Institutes of Health (NIH).

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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