RETT syndrome

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ATYPIcal forms

Rett syndrome is a disease whose clinical signs are perfectly described for its typical form (see our page dedicated to diagnostic criteria).

In addition to the classical form of Rett syndrome, several «atypical forms» have been described over the years. There are 3 main groups :

  1. -«Zappella» variant or preserved speech variant. In this subtype of Rett syndrome, hand use is better, langage is partially recovered after the regression phase (at around 5 years of age). Head circumference, height and weight can be preserved. Professor Michele Zappella is an italian pediatric neurologist, specialized in intellectual disability in general and in autism specifically. He worked in the University of Siena in Italy.

  1. -«Hanefeld» variant or early epilepsy variant. In this subtype of Rett syndrome, the patients suffer from epilepsy before 5 months of age. Professor Folker Hanefeld worked in Göttingen in Germany and studied the clinical aspects of Rett syndrome.

- «Rolando» variant or congenital variant. In this subtype of Rett syndrome, the development of the patients is abnormal from birth. Head circumference is abnormal from birth. The typical gaze of Rett syndrome patients is usually absent. Doctor Susanna Rolando described this variant in 1985 when she was working in Istituto Gaslini in Genoa, Italy.

Prof. Zappella

Prof. Hanefeld