[Rett syndrome: individual differences in developmental and behavioral markers and psychosocial stress].

OBJECTIVES

Rett Syndrome is a severe neurological developmental disorder caused by a genetic mutation on the long arm of the X chromosome (Xq28). This disorder is characterized by a loss of purposeful hand use, verbal language, and specific behaviors.

METHODS

Data were obtained from a survey of the parents of 83 girls on pre-verbal skills (Pre-verbal Communication Schedule), behavioral characteristics and emotional expression (Rett Syndrome Behaviour Questionnaire) and on maternal psychosocial stress (Handicap-related Problems for Parents Inventory).

RESULTS

There is considerable individual variability in the developmental and behavioral characteristics which is not explained as a function of age. Maternal stress correlates with the daughters' mood, anxious reactions and night-time behaviors.

CONCLUSIONS

Some implications for diagnosis and family counseling are discussed.