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This open pilot study was performed to evaluate the effect of Lamotrigine (LTG) in girls with Rett syndrome (RS) regarding seizure frequency, effect on gross motor dyspraxia and safety. Twelve girls with either the classical form of RS or the milder form fruste variants were included. The effect on epilepsy was evaluated as seizure frequency, motor performance (video comparison) and safety at clinical check up. The dosage of LTG was individualized and related to concomitant anti-epileptic drugs. Two of three girls with epilepsy responded relatively well to treatment, and for one of them even bad tantrums disappeared. LTG was useful in another four girls who became happier, more alert, more able to concentrate, and improved in contacting. Only mild adverse reactions as rash and tremor were seen. It is concluded that LTG could be worth trying as an adjunct in girls with RS, being aware of possible adverse reactions and no effect at all.

The longitudinal development of head growth was investigated in girls with Rett syndrome. Measurements were taken retrospectively from different kinds of records. Growth retardation was expressed in standard deviation (SD) scores. In classic types, the mean head circumference fell successively to 2 SD scores below the norm at the age of 4 y. After the age of 8 y it stabilized close to –3 SD scores. The degree of deceleration correlated strongly to the age at which a deceleration of 1 SD score had occurred. In forme fruste variants, the mean head circumference was within normal limits; however, it was significantly below the norm (–0.8 SD scores). Body height deviated to –2 SD scores at the age of 6 y and was highly correlated to decline in head growth. When head growth was related to the severity of motor disability, there was a continuum from almost normal head growth with well‐preserved gross motor function and some preserved fine motor function to a marked deceleration in head growth with maximum gross and fine motor disability.

Growth of head circumference was measured in 99 RS girls and compared to gross motor function. The degree of head growth deceleration correlated to the severity of gross motor disability at 12 years of age.

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