Publications by authors named "Deborah F Hill"

Article Synopsis
  • Rapid-onset dystonia-parkinsonism (RDP) is linked to ATP1A3 gene mutations, and this study aimed to assess cognitive performance in RDP patients compared to mutation-negative controls.
  • A total of 58 individuals were evaluated using movement disorder assessments and a comprehensive cognitive battery targeted at various cognitive functions like memory, attention, and executive function.
  • Results showed that RDP patients scored significantly lower in cognitive tests than the controls, indicating that cognitive impairment may be associated with ATP1A3 mutations and the presence of RDP.
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Objective: Rapid-onset dystonia-parkinsonism (RDP) is caused by a variety of missense mutations in the ATP1A3 gene. Psychiatric comorbidity has been reported, although systematic examination of psychiatric disease in individuals with RDP is lacking. This study examines psychiatric morbidity for 23 patients with RDP in 10 families with family member control subjects and in 3 unrelated patients with RDP, totaling 56 individuals.

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We report new clinical features of delayed motor development, hypotonia, and ataxia in two young children with mutations (R756H and D923N) in the ATP1A3 gene. In adults, mutations in ATP1A3 cause rapid-onset dystonia-Parkinsonism (RDP, DYT12) with abrupt onset of fixed dystonia. The parents and children were examined and videotaped, and samples were collected for mutation analysis.

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Background: A woman from Italy presented with dystonic leg symptoms at the age of 59. Rapid-onset dystonia-parkinsonism (RDP) was not suspected until 3 affected children (2 male, 1 female) with presentations consistent with the disorder were recognized.

Methods: The mother and four of her children (3 with and 1 without dystonia) were evaluated with an extensive battery including standardized history questionnaire and rating scales.

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Study 1 retrospectively analyzed neuropsychological and psychoeducational tests given to N=220 first graders, with follow-up assessments in third and eighth grade. Four predictor constructs were derived: (1) Phonemic Awareness, (2) Picture Vocabulary, (3) Rapid Naming, and (4) Single Word Reading. Together, these accounted for 88%, 76%, 69%, and 69% of the variance, respectively, in first, third, and eighth grade Woodcock Johnson Broad Reading and eighth grade Gates-MacGinitie.

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Individuals with developmental dyslexia are often impaired in their ability to process certain linguistic and even basic non-linguistic auditory signals. Recent investigations report conflicting findings regarding impaired low-level binaural detection mechanisms associated with dyslexia. Binaural impairment has been hypothesized to stem from a general low-level processing disorder for temporally fine sensory stimuli.

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