Angelman's syndrome

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A chromosome 15 disorder comprising microcephaly with mental retardation, epilepsy, ataxic gait or complete inability to walk, muscle hypotonia, EEG abnormalities, and peculiar facies marked by a protruding jaw and tongue, etc.

Description

A chromosome 15 disorder comprising microcephaly with mental and motor retardation, epilepsy, ataxic gait or complete inability to walk, muscle hypotonia, EEG abnormalities, and peculiar facies marked by a protruding jaw and tongue, occipital depression, and blue eyes.

The affected children have a happy disposition and laugh frequently for almost any reason and their movements are jerky like those of a marionette, or puppet. Inheritance is autosomal recessive. The most common age of diagnosis is between three and seven years when the characteristic behaviors and features become most evident.

Harry Angelman described three cases in 1965 and called them “puppet children” because of their peculiar gait. He noted that all had a stiff, jerky gait, absent speech, excessive laughter and seizures. Other cases were eventually published but the condition was considered to be extremely rare and many physicians doubted its existence. The first reports from North America appeared in the early 1980s and within the last years many new reports have appeared.

Two years after Angelman's description, Bower and Jeavons reported two affected children and modified the title to "Happy puppet syndrome". This term came into general use, appearing in the French language literature as marionette joyeuse or syndrome du pantin hilare. In 1982 Williams and Jaime L. Frias suggested that the eponym "Angelman" should replace the descriptive title of the condition, in order to avoid any possible offence to the families of affected persons.

Angelman relates the following regarding his discovery of "his" syndrome:

    "The history of medicine is full of interesting stories about the discovery of illnesses. The saga of Angelman's Syndrome is one such story. It was purely by chance that nearly thirty years ago three handicapped children were admitted at various times to my children's ward in England. They had a variety of disabilities and although at first sight they seemed to be suffering from different conditions I felt that there was a common cause for their illness. The diagnosis was purely a clinical one because In spite of technical investigations, which today are more refined, I was unable to establish scientific proof that the three children all had the same handicap. In view of this I hesitated to write about them in the medical journals. However, when on holiday in Italy 1 happened to see an oil painting in the Castelvecchio museum in Verona called . . . a Boy with a Puppet. The boy's laughing face and the fact that my patients exhibited jerky movements gave me the idea of writing an article about the three children with a title of Puppet Children. It was not a name that pleased all parents but it served as a means of combining the three little patients into a single group. Later the name was changed to Angelman syndrome. This article was published in 1965 and after some initial interest lay almost forgotten until the early eighties."
    Personal correspondence, 1991
    The picture referred to is by Gian Francesco Caroto (1480-1555.

Bibliography

  • H. Angelman:
    ·”Puppet children". A report of three cases.
    Developmental Medicine and Child Neurology, Oxford, 1965, 7: 681-688.
  • B. D. Bower, P. M. Jeavons:
    The "Happy puppet" syndrome.
    Archives of Disease in Childhood, London, 1967, 42: 298-301.
  • F. Halal, J. Chagnon:
    Le syndrome de la "marionette joyeuse".
    Union médicale du Canada, Montreal, 1976, 105: 1077-1083.
  • C. A. Williams, J. L. Frias:
    The Angelman ("happy puppet") syndrome.
    American Journal of Medical Genetics, New York, 1982, 11: 453-460.
  • J. Hamabe, Y. Kuroki, K. Imaizumi, T. Sugimoto, Y. Fukushima, A. Yamaguchi, et al:
    DNA deletion and its parental origin in Angelman syndrome patients.
    American Journal of Medical Genetics, New York, 1991, 41: 64-68.
  • C. A. Williams, H. Angelman, J. Clayton-Smith, D. J. Driscoll, J. E. Hendrickson, J. H. M. Knoll, R. E. Magenis, A. Schinzel, J. Wagstaff, E. M. Whidden, Z. T. Zori:
    Angelman syndrome: Consensus for diagnostic criteria.
    American Journal of Medical Genetics, New York, 1995, 56: 237-238.

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