Journal
PEDIATRICS
Volume 147, Issue 5, Pages -Publisher
AMER ACAD PEDIATRICS
DOI: 10.1542/peds.2020-011528
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Funding
- National Institutes of Health (NIH) [1R01HD056031]
- NIH [R01HD038819, R01MH1075732, R01MH90194, P30-HD003110]
- Office of Special Education Programs [H324B010041]
- National Institutes of Health (NIH)
- [U01NS096767]
- [R01MH091131]
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Children with FMR1 gene full mutation demonstrate significant developmental delays in early childhood, emphasizing the need for earlier identification and intervention to maximize effectiveness.
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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