Biomedical subjects

S Doherty

Publications and source records attributed to S Doherty.

28 records · Page 2Linked to original sources

PubMed1993

Cerebral morphologic distinctions between Williams and Down syndromes.

Neurobehavioral studies of Williams syndrome (WS) and Down syndrome (DS) have revealed distinct profiles of cognitive strengths and weaknesses. In a previous report, we described several gross brain morphologic distinctions on magnetic resonance images between these two disorders. While the observed cerebral hypoplasia was of equal degree in the two groups, cerebellar size was entirely normal in the subjects with WS but dramatically reduced in subjects with DS. In WS, paleocerebellar vermal lobules subtended a smaller area on midsagittal sections, but neocerebellar lobules were actually larger. These results suggested important distinctions between WS and DS in terms of the action and anatomic targets of factors that alter brain development in these syndromes. The present study extends the earlier findings by focusing in detail on the morphologic features of the cerebral hemispheres, particularly cerebral gray matter. The results suggest that some frontal and temporal limbic structures are relatively preserved in WS, while some basal ganglia and diencephalic structures are relatively preserved in DS.

Adolescent↗

PubMed1993

Primary fibromyalgia syndrome--an outcome study.

Seventy-two patients (65 F, 7 M; mean age 52, range 18-81 years) fulfilling criteria for primary fibromyalgia syndrome (PFS) were reviewed at a mean of 4 years (range 1.5-6) following diagnosis. Ninety-seven per cent still had symptoms typical of PFS (60% worse, 26% better than at presentation); 85% had multiple hyperalgesic tender sites and still fulfilled criteria for PFS; 8% had more limited, and 7% had no tender sites at review. Many had significant disability (median score 1.0, range 0-2.75, on the Health Assessment Questionnaire; median 2, range 1-3 on the Steinbrocker index) and 92% scored highly (> 12) on the Hospital Anxiety and Depression index. In no patient did screening investigations reveal development of inflammatory, metabolic, endocrine or muscle disease. This study confirms a poor outcome for PFS patients and association with often marked functional disability and high levels of anxiety and depression. Contrary to one previous study there was no evidence that PFS predates the onset of other disease.

Adolescent↗

PubMed1992

Callosal morphology concurs with neurobehavioral and neuropathological findings in two neurodevelopmental disorders.

To integrate neuroimaging, neuropathologic, and neuropsychological findings, computer-assisted morphometry was applied to magnetic resonance images of the corpus callosum in adolescents with Down and Williams syndromes and in control subjects. Callosa of subjects with Down syndrome were distinctively rounded in form, consistent with Down syndrome brachycephaly. These callosa also showed decreased widths throughout their rostral fifth, which serves frontal lobe projections. This finding correlates with the hypocellularity and hypofrontality of neocortex in subjects with Down syndrome and with their neuropsychological profile of frontal lobe dysfunction. Callosa of subjects with Williams syndrome generally resembled control specimens, in congruence with their frontal lobe structure and better preserved frontal lobe function. These results represent a convergence of findings across levels of neuroscientific investigation.

Adolescent↗

PubMed1992

Specific neurobehavioral profile of Williams' syndrome is associated with neocerebellar hemispheric preservation.

Previous work demonstrated enlargement of the neocerebellar vermis in Williams' syndrome (WS), despite diminished volumes in the cerebral hemispheres. We present the first in vivo volumetric study of any structure within the cerebellar hemispheres. Using MRI, we identified and reliably measured the neocerebellar tonsils in WS subjects; Down's syndrome (DS) subjects matched for age, IQ, and cerebral volume; and age-matched normal controls. WS tonsils were equal in size to control tonsils and larger than DS tonsils. In proportion to the cerebrum, WS tonsils were larger than controls'. These results coincide with the remarkable neuropsychological preservation of language and affect in WS, despite general cognitive impairment. They contrast with the neocerebellar vermal hypoplasia seen in autism, with its communicative and affective deficits. Additionally, two WS subjects showed Chiari type I malformations, but the average tonsillar position in WS was not found to be different than in controls.

Adolescent↗

PubMed1992

Care plans--a personal view.

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Databases, Factual↗

PubMed1990

Neuropsychological, neurological, and neuroanatomical profile of Williams syndrome.

The general aim of our research is to understand the brain mechanisms that underlie language and cognition. In this paper, we present a new line of investigation which attempts to forge links between a specific neurodevelopmental disorder, a specific neuropsychological profile, and abnormal brain organization. We report on a dissociation between language and cognitive functions in Williams syndrome adolescents, in contrast to age- and IQ-matched Down syndrome adolescents. The Williams syndrome individuals exhibit an unusual fractionation of higher cortical functioning, with marked cognitive deficits, but selective sparing of syntax. Differences in spatial cognitive abilities in the 2 groups are investigated, showing peaks and valleys of abilities specific to Williams syndrome individuals. These neurobehavioral profiles are explored in light of new evidence regarding neurologic and neuroanatomical differences between the 2 matched groups of adolescents. Results from these combined studies should help clarify the neural systems that mediate language and cognitive functions.

Abnormalities, Multiple↗

PubMed1987