Nurse recognition of early deviation in development in home videos of infants with Rett disorder

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Abstract
Background  In the genetic Rett disorder (RD), infants make some progress then suffer a dramatic developmental regression, usually before 2 years of age. Home videos, taken before the problems are recognized, offer an objective source for detecting early signs.Methods  Thirty‐six health visitors and midwives were invited to view brief examples from home videos of a cohort of 14 infants with RD and 11 control infants with normal development in the first year of life, and to indicate, by pressing a button, points in the recordings which aroused their suspicion of developmental deviation. They were then invited to comment on their selection. The participants were blind as to whether any individual example showed an infant with normal development or one with some form of developmental disturbance.Results  From the first month of life and throughout the first year, infants with RD received more button presses than controls (46%, 361 out of 778 viewings) in comparison with the control group (12%, 67 of 558). The consistent nature of the health professionals’ comments made possible their categorization under four headings: appearance, posture, movement and contact. In the first month of life, the hand postures of infants with RD received particular comment from midwives (23 out of 37 comments overall on posture).Conclusions  The present study strongly suggests the presence of early signs of developmental deviation in infants with RD, although, in most cases, formal developmental screening procedures have failed to detect these before the ages of 12 or 18 months.