The aim of the BABY DUCHENNE study is to evaluate the natural history and characterize the early clinical outcomes in very young children (0-3 years) with Duchenne muscular dystrophy (DMD) identified by newborn screening programs.
Male child between birth and 3.0 years of age at time of enrollment.
A confirmed and documented pathogenic or likely pathogenic variant in the DMD gene.
Ability of parent/guardian to understand and provide written informed consent (signing Parental Permission and Consent Form).
Willingness of parent/guardian to comply with the protocol Schedule of Activities, including all study site visits.
Female
Presence of any confirmed genetic disease, other than DMD, that could impact early development, which, in the opinion of the PI, may confound interpretation of developmental progress.
Presence of any significant medical condition (i.e., extreme prematurity, hypoxic ischemic encephalopathy) which, in the opinion of the PI, may confound interpretation of the clinical course of DMD.
Inability/unwillingness of parent/guardian to provide written permission (sign PPF) or to comply with the protocol Schedule of Activities.
Males with genetically confirmed diagnosis of DMD (Duchenne Muscular Dystrophy)
Other
Prospective
Not listed
Mean Change in Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4) Gross Motor Standard Score
The Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4), Gross Motor domain measures age-appropriate motor abilities such as crawling, standing, and walking in children aged 1 to 42 months. The Gross Motor Standard Score is derived by converting raw scores to age-normed standard scores (mean = 100; standard deviation = 15). Higher scores indicate better gross motor development.
Mean Change in Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4) Cognitive Standard Score
The Bayley-4 Cognitive domain measures early cognitive development, including attention, memory, and problem-solving abilities. Standard scores range from 40 to 160 (mean = 100; standard deviation = 15). Higher scores reflect better cognitive performance.
Mean Change in Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4) Fine Motor Standard Score
The Bayley-4 Fine Motor domain assesses hand and finger coordination tasks such as reaching and grasping. Standard scores range from 40 to 160 (mean = 100; standard deviation = 15). Higher scores indicate better fine motor development.
Mean Change in Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4) Expressive Language Standard Score
The Bayley-4 Expressive Language Standard Score is derived by converting raw scores to age-normed standard scores based on normative data for children ages 1 to 42 months. Standard scores range from 40 to 160, with a mean of 100 and a standard deviation of 15. Higher scores indicate more advanced expressive language abilities.
Mean Change in Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4) Receptive Language Standard Score
The Bayley-4 Receptive Language domain assesses a child's ability to understand spoken language. Scores range from 40 to 160 (mean = 100; SD = 15). Higher scores reflect better language comprehension.
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University of Rochester
Lead sponsor
United States Department of Defense
Collaborator
