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Rett's Syndrome: Progression of Symptoms From Infancy to Childhood

Department of Child Neurology, National Musashi Research Institute for Mental and Nervous Disorders, Kodaira City, Tokyo

Tetsuo Matsuzaka, MD

Department of Child Neurology, National Musashi Research Institute for Mental and Nervous Disorders, Kodaira City, Tokyo

Yoshito Hirayama, MD

Department of Child Neurology, National Musashi Research Institute for Mental and Nervous Disorders, Kodaira City, Tokyo

Norio Sakuragawa, MD

Department of Child Neurology, National Musashi Research Institute for Mental and Nervous Disorders, Kodaira City, Tokyo

Masataka Arima, MD

Department of Child Neurology, National Musashi Research Institute for Mental and Nervous Disorders, Kodaira City, Tokyo

Akihiko Tateno, MD

Department of Pediatrics, Ohashi Hospital, Toho University School of Medicine, Tokyo

Megumu Tj, MD

Department of Pediatrics, Niigata University School of Medicine, Niigata, Japan

Yasuyuki Suzuki, MD

Department of Pediatrics, Tokyo Rehabilitation Hospital, Musashi-Murayama, Tokyo

The results of studies of seven girls with Rett's syndrome and two additional cases suggestive of Rett's syndrome are presented. After normal neurological development up to the age of 7 to 20 months, there was a rapid regression of higher cortical function. Rett's syndrome was initially manifested by a delay of further motor development and the appearance of autistic traits. As the disease progressed, there was loss of ability to crawl, loss of purposeful hand movements, abnormal respirations, truncal ataxia, seizures, and spastic increase in muscle tone. Blood chemistries, including ammonia levels, were normal. Metabolic interference, a recently hypothesized form of inheritance, may occur in this syndrome. (J Child Neurol 1986;1:137-141)

Journal of Child Neurology, Vol. 1, No. 2, 137-141 (1986)
DOI: 10.1177/088307388600100208


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