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Diseases

Robert J. Shprintzen

Shprintzen syndrome

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22q11.2ds Deletion Syndrome: Developmental Milestones In Infants And Toddlers, Nancy Roizen, Kevin Antshel, Wanda Fremont, Nuria Abdulsabur, Anne Marie Higgins, Robert Shprintzen, Wendy Kates Dec 2015

22q11.2ds Deletion Syndrome: Developmental Milestones In Infants And Toddlers, Nancy Roizen, Kevin Antshel, Wanda Fremont, Nuria Abdulsabur, Anne Marie Higgins, Robert Shprintzen, Wendy Kates

Robert J. Shprintzen

The majority of children with 22q11.2DS deletion syndrome (22q11.2DS) have learning disabilities, and a substantial number have mental retardation. Although cognitive data have been reported on several samples of children with 22q11.2DS, data on their early developmental milestones are limited. Methods: The present study used a retrospective design and asked parents to recall developmental milestones. The participants were 88 children with 22q11.2DS, 47 community controls, and 29 sibling controls. Results: Although very early gross motor and expressive language milestones did not differ significantly from comparison groups, subsequent gross motor and expressive language milestones did, suggesting that children with 22q11.2DS may …