TY - JOUR
T1 - Emergence of developmental delay in infants and toddlers with an fmr1 mutation
AU - Wheeler, Anne C.
AU - Gwaltney, Angela
AU - Raspa, Melissa
AU - Okoniewski, Katherine C.
AU - Berry-Kravis, Elizabeth
AU - Botteron, Kelly N.
AU - Budimirovic, Dejan
AU - Hazlett, Heather Cody
AU - Hessl, David
AU - Losh, Molly
AU - Martin, Gary E.
AU - Rivera, Susan M.
AU - Roberts, Jane E.
AU - Bailey, Donald B.
N1 - Publisher Copyright:
© 2021 by the American Academy of Pediatrics.
PY - 2021/5/1
Y1 - 2021/5/1
N2 - 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.
AB - 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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U2 - 10.1542/peds.2020-011528
DO - 10.1542/peds.2020-011528
M3 - Article
C2 - 33911031
AN - SCOPUS:85105342911
SN - 0031-4005
VL - 147
JO - Pediatrics
JF - Pediatrics
IS - 5
M1 - e2020011528
ER -