AI Article Synopsis

  • Williams syndrome (WS) is a rare genetic disorder linked to chromosome 7, characterized by developmental delays and various neuropsychiatric issues, including movement disorders and psychiatric conditions.
  • The study presents two adult cases of WS with severe treatment-resistant schizoaffective disorder and associated movement issues, such as parkinsonism and dystonia, observed after clozapine treatment.
  • The findings suggest that low-dose levodopa may effectively alleviate movement symptoms without worsening psychotic or mood symptoms, indicating new potential treatment avenues for individuals with WS.

Article Abstract

Background: Williams syndrome (WS; chromosome 7q11.23 deletion) is a rare, multisystemic, neurodevelopmental disorder with variable penetrance and expressivity. Although movement and psychiatric disorders are known to occur in individuals with WS, parkinsonism, dystonia, and treatment-resistant schizoaffective disorder have not been formally described.

Methods: We present two unrelated cases of adults with molecularly confirmed WS and typical histories of developmental delays, intellectual/learning disabilities, and treatment-responsive anxiety/mood disorder who developed similar noteworthy neuropsychiatric expressions. We reviewed detailed neuropsychiatric histories, laboratory investigations, neuroimaging, and treatment responses and compared data for the two cases.

Results: Both individuals developed treatment-resistant schizoaffective disorder in adulthood requiring multiple trials of antipsychotic treatments. While on clozapine, both patients developed parkinsonism and generalized dystonia with truncal involvement that responded to trials of low-dose levodopa without exacerbating underlying psychotic or affective symptoms.

Conclusion: This report illustrates the novel occurrence of levodopa-responsive movement disorders and treatment-resistant schizoaffective disorder in individuals with WS, adding to the expanding neuropsychiatric phenotypes, and highlighting potential shared underlying mechanisms. The observed treatment response suggests that levodopa, in relatively low doses, may be safe and useful in ameliorating presumed antipsychotic-associated parkinsonism and tardive dystonia in WS.

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Source
http://dx.doi.org/10.1007/s10072-024-07705-3DOI Listing

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