Emergence of Developmental Delay in Infants and Toddlers With an FMR1 Mutation Article Swipe
Anne Wheeler
,
Angela Gwaltney
,
Melissa Raspa
,
Katherine C. Okoniewski
,
Elizabeth Berry‐Kravis
,
Kelly N. Botteron
,
Dejan B. Budimirovic
,
Heather C. Hazlett
,
David Hessl
,
Molly Losh
,
Gary E. Martin
,
Susan M. Rivera
,
Jane E. Roberts
,
Donald B. Bailey
·
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1542/peds.2020-011528
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1542/peds.2020-011528
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.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1542/peds.2020-011528
- OA Status
- green
- Cited By
- 27
- References
- 44
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3158893886
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W3158893886Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1542/peds.2020-011528Digital Object Identifier
- Title
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Emergence of Developmental Delay in Infants and Toddlers With an FMR1 MutationWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2021Year of publication
- Publication date
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2021-04-28Full publication date if available
- Authors
-
Anne Wheeler, Angela Gwaltney, Melissa Raspa, Katherine C. Okoniewski, Elizabeth Berry‐Kravis, Kelly N. Botteron, Dejan B. Budimirovic, Heather C. Hazlett, David Hessl, Molly Losh, Gary E. Martin, Susan M. Rivera, Jane E. Roberts, Donald B. BaileyList of authors in order
- Landing page
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https://doi.org/10.1542/peds.2020-011528Publisher landing page
- Open access
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YesWhether a free full text is available
- OA status
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greenOpen access status per OpenAlex
- OA URL
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https://www.ncbi.nlm.nih.gov/pmc/articles/8086007Direct OA link when available
- Concepts
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Medicine, FMR1, Mutation, Pediatrics, Genetics, Audiology, Fragile x, Biology, GeneTop concepts (fields/topics) attached by OpenAlex
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27Total citation count in OpenAlex
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2025: 5, 2024: 10, 2023: 5, 2022: 6, 2021: 1Per-year citation counts (last 5 years)
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44Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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