Get access

Hand stereotypies distinguish Rett syndrome from autism disorder

Authors

  • Sylvie Goldman PhD,

    Corresponding author
    1. Saul R. Korey Department of Neurology, Albert Einstein College of Medicine, Bronx, New York, USA
    2. Department of Pediatrics, Albert Einstein College of Medicine, Bronx, New York, USA
    3. Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York, USA
    • Albert Einstein College of Medicine, Kennedy Center, Room 807, 1300 Morris Park Avenue, Bronx, NY 10461, USA
    Search for more papers by this author
    • The 2 authors contributed equally to this article.

  • Teresa Temudo MD, PhD

    1. Serviço de Neuropediatria, Departamento da Criança e Adolescente, Centro Hospitalar do Porto, Porto, Portugal
    2. Instituto de Ciências Biomédicas Abel Salazar, Porto, Portugal
    Search for more papers by this author
    • The 2 authors contributed equally to this article.


  • Relevant conflicts of interest/financial disclosures: Sylvie Goldman was supported by the Einstein/Montefiore Autism Center and a LEND grant—Leadership Education in Neurodevelopmental and Related Disabilities from the Bureau of Maternal and Child Health in the Department of Health and Human Services and an NIH-IDDRC grant to the Kennedy Center at Albert Einstein College of Medicine.

  • Full financial disclosures and author roles may be found in the online version of this article.

Abstract

Background:

Rett syndrome (RTT) and autism disorder (AD) are 2 neurodevelopmental disorders of early life that share phenotypic features, one being hand stereotypies. Distinguishing RTT from AD often represents a challenge, and given their distinct long-term prognoses, this issue may have far-reaching implications. With the advances in genetic testing, the contribution of clinical manifestations in distinguishing RTT from AD has been overlooked.

Methods:

A comparison of hand stereotypies in 20 children with RTT and 20 with AD was performed using detailed analyses of videotaped standardized observations.

Results:

Striking differences are observed between RTT and AD children. In RTT, hand stereotypies are predominantly complex, continuous, localized to the body midline, and involving mouthing. Conversely, in AD children, hand stereotypies are simple, bilateral, intermittent, and often involving objects.

Conclusions:

These results provide important clinical signs useful to the differential diagnosis of RTT versus AD, especially when genetic testing for RTT is not an option. © 2012 Movement Disorder Society

Ancillary