Concurrent and construct validity of scores on the Timed Movement Battery.

BACKGROUND AND PURPOSE: The Timed Movement Battery (TMB) is a new assessment tool designed to measure mobility in elderly individuals. "Mobility" was defined as a person's ability to maneuver his or her body independently in order to accomplish everyday tasks. The purpose of this study was to assess the concurrent and construct validity of scores obtained with the TMB as a measure of mobility in a group of elderly individuals who reported moderate or no difficulty in performing either basic or instrumental activities of daily living (BADL or IADL). SUBJECTS: Thirty community-dwelling elderly people, with a mean age of 77.5 years (SD=7.0, range=65-92), participated in this study. METHODS: Subjects responded to 2 questionnaires regarding their activities of daily living (ADL) (ie, Barthel Index and an 18-item ADL/IADL scale) and completed 3 assessments of mobility (ie, Berg Balance Scale, Timed "Up & Go" Test, and the TMB). Subjects were asked to perform the items on the TMB at a "self-selected" speed (their normal speed) and at a "maximum-movement" speed (as quickly as they could safely perform the items). Subjects' scores on the TMB were cross-correlated with data for 4 criterion tests (ie, Berg Balance Scale, Timed "Up & Go" Test, Barthel Index, and the 18-item ADL/IADL scale) using Spearman rank correlations and Pearson product moment correlations. RESULTS: Composite scores of the TMB performed at self-selected speeds correlated highly with data for the criterion tests and differentiated between those subjects reporting difficulty with ADL and those reporting no difficulty. CONCLUSION AND DISCUSSION: These results support the validity of scores obtained with the TMB as a measure of mobility in this sample of elderly individuals with moderate or no reported difficulty with ADL.

Turning difficulty characteristics of adults aged 65 years or older.

BACKGROUND AND PURPOSE: Falls that occur while walking have been associated with an increased risk of hip fracture in elderly people. This study's purpose was to describe movement characteristics in older adults that serve as indicators of difficulty in turning while walking. SUBJECTS: Three groups were assessed: young adults who had no difficulty in turning (age range=20-30 years, n=20) (YNDT group), elderly adults who had no difficulty in turning (age range=65-87 years, n=15) (ENDT group), and elderly adults who had difficulty in turning (age range=69-92 years, n=15) (EDT group). METHODS: All subjects were videotaped performing a self-paced 180-degree turn during the Timed "Up & Go" Test. Movement characteristics of each group were identified. Four characteristics were used to identify difficulty in turning: (1) the type of turn, (2) the number of steps taken during the turn, (3) the time taken to accomplish the turn, (4) and staggering during the turn. RESULTS: In general, the EDT group took more steps during the turn and more time to accomplish the turn than the YNDT and ENDT groups. Although the only turning strategy used by the YNDT group was a pivot type of turn, there was an almost total absence of a pivot type of turn in the EDT group. No differences were found among the groups on the staggering item, yet the EDT group was the only group in which staggering was present. We believe these changes observed in the 4 characteristics only in the EDT group are indicators of difficulty in turning while walking. CONCLUSION AND DISCUSSION: These indicators of difficulty may be useful for the early identification of individuals aged 65 years or older who are having difficulty in turning and may well serve as the basis for the development of a scale for difficulty in turning in older adults. Preliminary findings indicate the need for further study into the reliability, validity, and sensitivity of measurements obtained with such a scale.

Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15.

OBJECTIVE: To characterize a new gene locus for familial spastic paraparesis (FSP). BACKGROUND: FSP is a genetically heterogeneous group of upper motor neuron syndromes. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked disorder. Four loci for autosomal dominant FSP have been genetically mapped, and two genes have been shown responsible for the X-linked type. In addition, two loci for autosomal recessive type have been reported and mapped to chromosomes 8q and 16q. The gene for the 16q locus has been characterized as a mitochondrial protein. METHODS: Eight recessive FSP families from America and Europe were used for genetic linkage analysis. The known recessive loci (8q and 16q) and the X-linked loci (PLP and L1CAM genes) were screened through PCR amplification, followed by linkage analysis, single-strand conformational polymorphism, or both. RESULTS: All the families except one revealed lack of linkage to the known loci for recessive and X-linked types of FSP. One of the eight families showed data consistent with linkage to the previously characterized 8q locus. Analysis of all the families for possible linkage to other candidate loci revealed significant positive lod scores for markers in chromosome 15q. The maximum multipoint combined lod score for the non-8q families was Z = 3.14 for markers D15S1007, D15S971, D15S118, and D15S1012, at a distance of 6.41 cM from the marker D15S1007, in between D15S971 and D15S118. CONCLUSIONS: Our data suggest a new locus for recessive FSP linked to chromosome 15q, and that this may be the most common one.

Oculopharyngeal muscular dystrophy: non-French-Canadian pedigrees.

Oculopharyngeal muscular dystrophy (OPMD) is a late adult onset, autosomal dominant muscular dystrophy characterized by ptosis and dysphagia. The OPMD gene has been localized to chromosome 14q11.2-q13 in French-Canadian pedigrees. We report 2 non-French-Canadian families with OPMD. Affected ancestors were immigrants to the United States from Italy and Normandy. The Norman pedigree does not share the French-Canadian haplotype. OPMD appears to be a heterogeneous disorder with similar phenotypes, but probably with different gene loci.

"Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation.

Joubert syndrome is characterized by episodic hyperpnea and apnea, developmental delay, hypotonia, truncal ataxia, ophthalmologic abnormalities, and vermian dysgenesis. We studied 15 patients with the diagnosis of Joubert syndrome to (1) more fully define the syndrome's clinical features, and (2) correlate the clinical features with magnetic resonance imaging (MRI) findings. Eight of 15 patients had a history of episodic hyperpnea and apnea. All patients had developmental delay and hypotonia. Of the 13 patients receiving detailed neuro-ophthalmologic evaluations, three had optic nerve dysplasia, pendular nystagmus, and gaze-holding nystagmus. All 13 patients had a normal vestibulo-ocular reflex based on head thrust, but had absent to poor ability to cancel the vestibulo-ocular reflex horizontally and vertically. Twelve of 13 patients had impaired smooth pursuit. Twelve of 13 patients had defects in initiation of saccades and quick phases. Two of the most consistent radiologic features were absent or hypoplastic posterior cerebellar vermis, and deformed midbrain and pontomesencephalic junction, which based on ocular motor physiology correlate with the vestibulo-ocular reflex cancellation/ pursuit defect and saccade initiation defect, respectively. As a result of midbrain, vermian, and superior cerebellar peduncle abnormalities, axial neuroimaging showed a unique "molar tooth" appearance of these structures. These results indicate that Joubert syndrome results from maldevelopment of the midbrain and cerebellar vermis, producing a pathognomonic sign on MRI.

Cephalosporin-induced recurrent aseptic meningitis.

A 66-year-old woman had several episodes of aseptic meningitis associated with exposure to cephalexin, cefazolin, and ceftazidime. The cerebrospinal fluid IgG index was elevated, specific IgG-ceftazidime binding was shown, and skin allergy testing with cefazolin provoked a recurrence of meningitis. We postulate an acute hypersensitivity reaction involving an antigen-specific humoral immune response.