Abstract
This paper summarizes the clinical findings of 7 girls diagnosed in 1985-86 as having Rett syndrome. Ages ranged from 3.5 to 25 years. Abnormalities of gestation were noted: Neonatal feeding problems (3/7) and positional deformities (3/7)[including hip suppluxation (1), metatarsus adduction (1), “windswept feet” (1)] were identified. Postnatal growth abnormalities included: 7/7 head growth deceleration, 3/7 microcephalic, 7/7 statural growth deceleration, 6/7 short stature. In 6/7 girls, developmental delays were noted prior to true psychomotor regression. In only one girl was there clear documentation of normal development followed by marked deterioration. Age at onset of delays ranged from 6-12 months, with psychomotor regression noted from 10-34 months. Typical hand stereotypy started between 2-3 years in all. Other findings: 6/7 trunk ataxia, 1/7 ambulatory (with gait apraxia), 6/7 seizures, 5/7 strabismus, 4/7 scoliosis, 6/7 had irritability and/or self-injury with music or motion helpful in 2 girls. These gestational abnormalities, neonatal findings and early psychomotor delays prior to regression are important additional phenotypic findings. Until a reliable genetic or biochemical marker is available, the diagnosis of this syndrome rests on the recognizable neurodevelopmental pheno type.
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Moeschler, J., Charman, C., Berg, S. et al. RETT SYNDROME: ADDITIONAL FINDINGS FROM 7 CASES. Pediatr Res 21 (Suppl 4), 229 (1987). https://doi.org/10.1203/00006450-198704010-00377
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DOI: https://doi.org/10.1203/00006450-198704010-00377