Evolution of neurologic features in Williams syndrome
Chiara Gagliardi1, Sara Martelli, Michael D Burt
1Neurorehabilitation Unit, IRCCS Eugenio Medea, Bosisio Parini (LC), Italy. chiara.gagliardi@bp.lnf.it
Pediatric Neurology
|May 19, 2007
Summary
Williams syndrome patients show subtle neurological signs, including motor coordination impairments and mild cerebellar/extrapyramidal signs. These extrapyramidal signs worsen with age, particularly after 8 years old.
Area of Science:
- Neurology
- Genetics
Background:
- Williams syndrome is a genetic disorder.
- Previous research indicated a lack of major neurological deficits.
- Focus shifted to subtle neurological signs.
Purpose of the Study:
- To investigate soft neurological signs in Williams syndrome.
- To document motor coordination and cerebellar/extrapyramidal signs.
- To analyze age-related patterns of these signs.
Main Methods:
- Detailed neurologic testing of 47 Williams syndrome patients.
- Follow-up study over 4 years.
- Assessment of gross and fine motor skills, cerebellar, and extrapyramidal signs.
Main Results:
- Confirmed impairments in gross and fine motor coordination.
- Documented mild cerebellar and extrapyramidal signs.
- Observed an age-related increase in soft extrapyramidal signs from 8 years onwards.
Conclusions:
- Soft neurological signs are present in Williams syndrome.
- Extrapyramidal signs show an age-related progression.
- Findings support a hypothesis of dopaminergic system involvement or accelerated aging.
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