Rett syndrome: a review of current knowledge.

Bauman (1991) wrote a big-picture review. The paper pulled together every clinical clue known about Rett syndrome at the time.

No new data were collected. The goal was to give doctors and therapists a single snapshot of the disorder.

Rett syndrome almost always strikes girls who had looked typical for the first 6–18 months.

The hallmark is a steep loss of hand use, language, and social interest, followed by constant hand-wringing movements.

Seizures, scoliosis, and breathing irregularities ride along as the child ages.

Raslear et al. (1992) zoomed in one year later. They counted pre-linguistic behaviors in 120 girls and showed eye gaze is the main way these children “talk.”

Taylor et al. (1993) ran the first functional analyses on self-injury. They proved that different SIB forms can serve escape or automatic functions, so one behavior plan will not fit all.

Young et al. (2011) added genes to the story. They tracked health and service use by MECP2 mutation and showed that some DNA changes bring early decline then stability, while others do the reverse.

Together the later papers turn the 1991 sketch into a colored map: expect eye-gaze communication, test each SIB form separately, and check the mutation before you predict the road ahead.

You will rarely see Rett syndrome, but when you do, these details save time. Watch for loss of hand skills after normal infancy, use eye gaze as the primary communication channel, and assess each self-injury topography on its own. If genetic reports are available, match your service plan to the mutation’s expected ups and downs.