Swallowing disturbances in the corticobasal syndrome.

OBJECTIVES: To determine the characteristics of swallowing and speech disturbances in patients with corticobasal syndrome (CBS) compared to healthy controls, and whether a subjective swallowing questionnaire, the NIH-Speech Pathology swallowing questionnaire (NIH-SQ), can predict swallowing impairment. METHODS: Twenty-four consecutive CBS patients underwent a swallowing assessment comprised of the NIH-SQ, ultrasound swallow study (US) and modified barium swallow (MBS) study. Healthy controls (n = 28) completed the NIH-SQ and the US. RESULTS: Ninety-six percent of the patients with CBS reported at least one complaint in the NIH-SQ, 59% had abnormal dry swallow duration and 10% abnormal wet swallow duration. Twenty-three patients with CBS had some abnormality on the MBS. The MBS category "piecemeal deglutition" (excessive lingual gestures causing multiple swallows required to clear a single bolus) was characteristic of CBS patients. No aspiration was detected. No NIH-SQ cutoff score or combination of subjective complaints predicted an abnormal MBS. Fifty-two percent of the patients had speech apraxia. CONCLUSIONS: Swallowing and speech disturbances are common in patients with CBS and differ from those previously reported in patients with PSP syndrome. Piecemeal deglutition and speech apraxia are characteristic features of our CBS patients. Although the NIH-SQ cannot predict the results of the more objective MBS in this population, it characterizes the patients' major subjective swallowing complaints.

Cognitive deficits in children with gelastic seizures and hypothalamic hamartoma.

OBJECTIVE: To characterize the cognitive deficits in children with gelastic seizures and hypothalamic hamartoma and investigate the relationship of seizure severity to cognitive abilities. METHODS: Eight children with gelastic seizures and hypothalamic hamartoma completed a neuropsychological battery of standardized and age-normed tests, including the Woodcock-Johnson Psycho-Educational Battery-Revised: Tests of Cognitive Ability, Peabody Picture Vocabulary Test-III, and initial-letter word fluency measure. RESULTS: All children displayed cognitive deficits, ranging from mild to severe. Gelastic/complex partial seizure severity was correlated with broad cognitive ability standard scores (r = -0.79; r2 = 0.63; (F[1,6] = 10.28; p = 0.018]. Frequency of gelastic/complex partial seizures was also correlated with broad cognitive ability standard scores (r = -0.72; r2 = 0.52; F[1,6] = 6.44; p = 0.044). Significant intracognitive standard score differences were found, with relative weaknesses in long-term retrieval (mean = 64.1; SD = 13.3) and processing speed (mean = 67.7; SD = 21.6) and a relative strength in visual processing (mean = 97.6; SD = 12.8). Performance in visual processing differed from performance in long-term retrieval (p = 0.009) and processing speed (p = 0.029). CONCLUSION: These findings are consistent with cognitive functions and affective/emotional states associated with conduction pathways of the hypothalamus involving cortical association areas and amygdala and hippocampal formation. These abnormalities can account for the prominent deficit found in integrating information in the processing of memories.

Aggression and psychiatric comorbidity in children with hypothalamic hamartomas and their unaffected siblings.

OBJECTIVE: To assess aggression and psychiatric comorbidity in a sample of children with hypothalamic hamartomas and gelastic seizures and to assess psychiatric diagnoses in siblings of study subjects. METHOD: Children with a clinical history of gelastic seizures and hypothalamic hamartomas (n = 12; age range 3-14 years) had diagnoses confirmed by video-EEG and head magnetic resonance imaging. Structured interviews were administered, including the Diagnostic Interview for Children and Adolescents-Revised Parent Form (DICA-R-P), the Test of Broad Cognitive Abilities, and the Vitiello Aggression Scale. Parents were interviewed with the DICA-R-P about each subject and a sibling closest in age without seizures and hypothalamic hamartomas. Patients were seen from 1998 to 2000. RESULTS: Children with gelastic seizures and hypothalamic hamartomas displayed a statistically significant increase in comorbid psychiatric conditions, including oppositional defiant disorder (83.3%) and attention-deficit/hyperactivity disorder (75%). They also exhibited high rates of conduct disorder (33.3%), speech retardation/learning impairment (33.3%), and anxiety and mood disorders (16.7%). Significant rates of aggression were noted, with 58% of the seizure patients meeting criteria for the affective subtype of aggression and 30.5% having the predatory aggression subtype. Affective aggression was significantly more common (p < .05). Unaffected siblings demonstrated low rates of psychiatric pathology on semistructured parental interview and no aggression as measured by the Vitiello Aggression Scale. CONCLUSIONS: Children with hypothalamic hamartomas and gelastic seizures had high rates of psychiatric comorbidity and aggression. Parents reported that healthy siblings had very low rates of psychiatric pathology and aggression.

Language disturbances in corticobasal degeneration.

To characterize the language deficits in corticobasal degeneration (CBD) and their relation to neuroradiologic findings, the authors administered a standardized battery of neurobehavioral tests and performed MRI studies on 15 patients with CBD. Eight patients (53%) had classifiable aphasias, including anomic, Broca's and transcortical motor aphasias. The aphasias were associated primarily with left frontal and parietal cortical damage and subcortical white matter and corpus callosum abnormalities. Our findings demonstrate that language disturbances in CBD are more frequent than previously considered.

Effects of physostigmine on swallowing and oral motor functions in patients with progressive supranuclear palsy: A pilot study.

The purpose of this pilot study was to investigate whether cholinergic stimulation reduces swallowing and oral motor disturbances in patients with progressive supranuclear palsy (PSP). A controlled, double-blind crossover trial of physostigmine, a centrally active cholinesterase inhibitor, and placebo was conducted. Patients were randomized to a 10-day crossover placebo-controlled double-blind trial of physostigmine at their previously determined best dose administered orally every 2 hr, six times per day. Patients were evaluated with ultrasound imaging of the oropharynx and an oral motor examination at baseline and during the third or fourth days of each study phase (placebo and drug). Under the double-blind placebo-controlled conditions, patients showed no statistically significant improvement in oral motor functions or swallow durations. Because patients with PSP have increased sensitivity to cholinergic blockade compared with control subjects, studies with newer, more potent cholinergic stimulating agents need further exploration. Suggestions for future research include the evaluation of newer direct cholinergic agonists in the treatment of the less-impaired PSP patients who may have a greater number of cholinergic neurons preserved and the evaluation of combined therapies.

Assessing functional outcomes: an overview.

Assessment of functional outcomes requires, first, a good working definition and, second, sufficiently reliable and valid measures from which to choose. With the advent of new or refined conceptualizations of patient outcomes, the functional domain has expanded to address not only routine activities of daily life but also the richly diverse aspects believed to constitute quality of life. This article defines and places the concept of functional outcomes within a context of various published and proposed classification schemes, and supports an expanded definition on the basis of these schemes, emerging models of health care that combine biomedical with social science approaches, and the visionary contributions of respected colleagues in the field.

Perspectives on functional assessment: its use for policy making.

Functional assessment has the power to decide who receives care, for how much and by whom. Yet, despite its perceived value for setting public policy, these tools are often described as either flawed or formative in their development. Thus, policy-making using functional assessment could be considered premature during a time when cost and quality controls are overdue. Such a dilemma pits consumers, practitioners and researchers against policy-makers and payers as health-care decisions hang in the balance. This article presents the views of key constituencies on the readiness of functional assessment for policy-making. The discussion, focused primarily on setting health-care policy in the United States, is framed against a profile of health-care trends, within the context of the World Health Organization's International Classification of Impairments, Disabilities, and Handicaps, and with reference to the characteristics of selected tools in widespread use. These perspectives may shed light on ways to proceed for building confidence in the tools' viability for policy-making.