Sleep Apnea and Hypoventilation in Patients with Down Syndrome: Analysis of 144 Polysomnogram Studies.

Patients with Down syndrome (DS) are at risk for both obstructive sleep apnea (OSA) and central sleep apnea (CSA); however, it is unclear how these components evolve as patients age and whether patients are also at risk for hypoventilation. A retrospective review of 144 diagnostic polysomnograms (PSG) in a tertiary care facility over 10 years was conducted. Descriptive data and exploratory correlation analyses were performed. Sleep disordered breathing was common (seen in 78% of patients) with an average apnea-hypopnea index (AHI) = 10. The relative amount of obstructive apnea was positively correlated with age and body mass index (BMI). The relative amount of central sleep apnea was associated with younger age in the very youngest group (0-3 years). Hypoventilation was common occurring in more than 22% of patients and there was a positive correlation between the maximum CO2 and BMI. Sleep disordered breathing, including hypoventilation, was common in patients with DS. The obstructive component increased significantly with age and BMI, while the central component occurred most in the very young age group. Due to the high risk of hypoventilation, which has not been previously highlighted, it may be helpful to consider therapies to target both apnea and hypoventilation in this population.

Autonomic arousal during actigraphically estimated waking and sleep in male veterans with PTSD.

Physiological hyperarousal is manifested acutely by increased heart rate, decreased respiratory sinus arrhythmia, and increased skin conductance level and variability. Yet it is uncertain to what extent such activation occurs with the symptomatic hyperarousal of posttraumatic stress disorder (PTSD). We compared 56 male veterans with current PTSD to 54 males who never had PTSD. Subjects wore ambulatory devices that recorded electrocardiograms, finger skin conductance, and wrist movement while in their normal environments. Wrist movement was monitored to estimate sleep and waking periods. Heart rate, but not the other variables, was elevated in subjects with PTSD equally during waking and during actigraphic sleep (effect sizes, Cohen's d, ranged from 0.63 to 0.89). The length of the sleep periods and estimated sleep fragmentation did not differ between groups. Group heart rate differences could not be explained by differences in body activity, PTSD hyperarousal symptom scores, depression, physical fitness, or antidepressant use.

Frontal-executive constructional apraxia: when delayed recall is better than copying.

UNLABELLED: In assessments of visuospatial function and memory, patients are often required to copy a figure and later to reproduce that figure from memory. Whereas most people perform better on a copying task than when drawing from memory, in this study we describe an unusual pattern of performance in which patients are better at drawing from memory than copying. Consecutive patients in a neurocognitive disorders clinic were given a battery of clinical cognitive tests that included copying a figure of intersecting pentagons and then drawing the figure from memory. Patterns of drawing performance at the two time points were compared to the profile of other cognitive deficits. RESULTS: A subgroup of four patients with frontal dysfunction showed marked improvement in drawings at a delay compared to copying. Prior studies have indicated that most patients have declines in drawing performance at a delay. The unusual pattern of better performance at a delay compared to an initial copy occurred in patients with frontal dysfunction. These patients' visuoconstructive deficit and subsequent improvement could be related to either a failure to disengage when a model is present, to memory consolidation with increased reliance on top-down processing in the delay condition, or to relative preservation of global versus local aspects of a stimulus in memory. The addition of a task to assess drawing after a delay to a standard clinical screening battery such as the Mini-Mental Status Examination (MMSE) provides the opportunity to evaluate this phenomenon that may be indicative of frontal-executive dysfunction.

Dementia and sleep.

Sleep evaluation can be essential in the treatment of dementia because sleep-related issues are common in dementia, often treatable, affect patient function, and are a major cause of caregiver distress. This article provides a practical approach to treatment of sleep in patients with dementia. Certain specific sleep disorders can be associated with certain underlying disorders and greater knowledge of these relationships is leading to more refined treatment approaches. Whether a sleep-related disorder such as obstructive sleep apnea, or limited sleep time, predisposes to the development of dementia is an active area of research.

Toward a quantitative basis for assessment and diagnosis of apraxia of speech.

PURPOSE: We explored the reliability and validity of 2 quantitative approaches to document presence and severity of speech properties associated with apraxia of speech (AOS). METHOD: A motor speech evaluation was administered to 39 individuals with aphasia. Audio-recordings of the evaluation were presented to 3 experienced clinicians to determine AOS diagnosis and to rate severity of 11 speech dimensions. Additionally, research assistants coded 11 operationalized metrics of articulation, fluency, and prosody in the same speech samples and in recordings from 20 neurologically healthy participants. RESULTS: Agreement among the 3 clinicians was limited for both AOS diagnosis and perceptual scaling, but inter-observer reliability for the operationalized metrics was strong. The relationships between most operationalized metrics and mean severity ratings for corresponding perceptual dimensions were moderately strong and statistically significant. Both perceptual scaling and operationalized quantification approaches were sensitive to the presence or absence of AOS. CONCLUSIONS: Perceptual scaling and operationalized metrics are promising quantification techniques that can help establish diagnostic transparency for AOS. However, because satisfactory reliability cannot be assumed for scaling techniques, effective training and calibration procedures should be implemented. Operationalized metrics show strong potential for enhancing diagnostic objectivity and sensitivity.

Fragile X dementia Parkinsonism Syndrome (FXDPS).

BACKGROUND/OBJECTIVE: The fragile X-associated tremor/ataxia syndrome is characterized by intention tremor and ataxia in people who are premutation carriers of the Fragile X gene. Patients with this disorder might also demonstrate signs of dementia with parkinsonian features. We report a patient with dementia and parkinsonian signs who did not demonstrate an intention tremor or gait ataxia. METHODS: A 58-year-old woman who had 2 sons with fragile X retardation syndrome and was a carrier, developed progressive dementia, including impaired memory, executive dysfunction, nonfluent speech, and parkinsonian signs, but had no action-intention tremor and no gait ataxia. Magnetic resonance imaging revealed extensive abnormalities of the white matter. RESULTS: On post-mortem examination, 7 years after this evaluation, she demonstrated extensive subcortical white matter pallor (spongiosis) and widespread ubiquitin-positive intranuclear inclusions in both neurons and in protoplasmic astrocytes characteristic of fragile X-associated tremor/ataxia syndrome, but no spongiosis in the cerebellar peduncles a defining feature of this tremor/ataxia syndrome. CONCLUSIONS: Patients who present with dementia and signs of Parkinson syndrome, even in the absence of ataxia or intention tremor should be evaluated for this fragile X dementia parkinsonism syndrome.

Progressive oculo-orofacial-speech apraxia (POOSA).

A loss of speech can be related to disorders of the motor units (paresis), language deficits (aphasia), or speech programming deficits (apraxia of speech). Although apraxia of speech has been reported to be associated with degenerative diseases, we observed a patient with a unique constellation of signs that included apraxia of speech, oculo-orofacial apraxia and a supranuclear ophthalmoplegia in the absence of extrapyramidal (Parkinsonian) signs. Post-mortem examination revealed a loss of neurons in the frontal and temporal regions, but there was also a marked loss of neurons and astrogliosis in the caudate, claustrum, globus pallidus, substantia nigra, and loss of axons in the anterior cerebral peduncles. This patient's clinical presentation and the pathological correlates suggest that he might have suffered with a distinct disorder we call progressive oculo-orofacial-speech apraxia or POOSA.

Naming concepts: evidence of two routes.

This study examines a parallel distributed processing (PDP) model (partly based on the Wernicke-Lichtheim information processing model) that posits two routes for naming concepts, whole word and phonological. To test the two naming route hypothesis of this model, we performed confrontation naming tests that were either uncued, semantically cued, or phonologically cued in a patient with naming impairment due to Broca's aphasia. In spoken language and in uncued naming to confrontation, word retrieval was severely impaired and marked by semantic but no phonemic paraphasic errors. With semantic cues, naming behavior was unchanged; however, with phonological cues, naming success was enhanced but frequent phonemic paraphasias were produced. These results suggest that the patient spontaneously engaged the whole word naming route, but when given phonological cues, he engaged an alternative phonological naming route that incorporated phonological sequence knowledge.

The effects of focal and global attentional systems on spatial biases.

The background page on which a stimulus is presented can influence the allocation of attention to that stimulus. The purpose of this study was to learn if there are hemispheric asymmetries in how background distraction affects attentional processing. Asymmetries were investigated by having right eye dominant subjects perform line bisections and manipulating the side of background distraction (right versus left), the eye of regard (right versus left), and the type of attention allocated (focal versus global). Overall subjects bisected lines to the left of center (pseudoneglect) and when viewing with the right eye (versus left) deviated more to the left. Subjects had more background distraction when viewing symbol than solid lines. Although overall, bias did not differ with the side of background distraction or the line being on one side or the other, when subjects viewed symbol, but not solid lines, this leftward bias was increased when the line was displaced to the right, thereby increasing the size of the left sided background. These findings suggest that when engaging the left hemisphere by using focused attention and placing the line on the right side, there is more distraction than when the right hemisphere is engaged.

Effect of repetitive transcranial magnetic stimulation on rate of memory acquisition.

Repetitive transcranial magnetic stimulation (rTMS) may temporarily accelerate knowledge acquisition by neural networks, possibly by promoting rapid Hebbian learning. The authors tested this hypothesis in 20 normal subjects by comparing the impact of 25 minutes of high-frequency left dorsolateral prefrontal rTMS with that of sham rTMS on subsequent knowledge acquisition in several procedural and declarative memory domains. No significant group effects, positive or negative, were noted for any memory acquisition test, but prefrontal rTMS did reduce motor evoked potential threshold.

Mental object rotation in Parkinson's disease.

Deficits in visual-spatial ability can be associated with Parkinson's disease (PD), and there are several possible reasons for these deficits. Dysfunction in frontal-striatal and/or frontal-parietal systems, associated with dopamine deficiency, might disrupt cognitive processes either supporting (e.g., working memory) or subserving visual-spatial computations. The goal of this study was to assess visual-spatial orientation ability in individuals with PD using the Mental Rotations Test (MRT), along with other measures of cognitive function. Non-demented men with PD were significantly less accurate on this test than matched control men. In contrast, women with PD performed similarly to matched control women, but both groups of women did not perform much better than chance. Further, mental rotation accuracy in men correlated with their executive skills involving mental processing and psychomotor speed. In women with PD, however, mental rotation accuracy correlated negatively with verbal memory, indicating that higher mental rotation performance was associated with lower ability in verbal memory. These results indicate that PD is associated with visual-spatial orientation deficits in men. Women with PD and control women both performed poorly on the MRT, possibly reflecting a floor effect. Although men and women with PD appear to engage different cognitive processes in this task, the reason for the sex difference remains to be elucidated.

Effects of monocular viewing and eye dominance on spatial attention.

Observations in primates and patients with unilateral spatial neglect have suggested that patching of the eye ipsilateral to the injury and contralateral to the neglected space can sometimes improve attention to the neglected space. Investigators have generally attributed the effects of monocular eye patching to activation of subcortical centers that interact with cortical attentional systems. Eye patching is thought to produce preferential activation of attentional systems contralateral to the viewing eye. In this study we examined the effect of monocular eye patching on attentional biases in normal subjects. When normal subjects bisect vertical (radial) lines using both eyes, they demonstrate a far attentional bias, misbisecting lines away from their body. In a monocular viewing experiment, we found that the majority of subjects, who were right eye dominant, had relatively nearer bisections and a diminished far bias when they used their right eye (left eye covered) compared with when they used their left eye (right eye covered). The smaller group of subjects who were left eye dominant had relatively nearer bisections and a diminished far bias when they used their left eye compared with when they used their right eye. In the hemispatial placement experiment, we directly manipulated hemispheric engagement by having subjects perform the same task in right and left hemispace. We found that right eye dominant subjects had a diminished far bias in right hemispace relative to left hemispace. Left eye dominant subjects showed the opposite pattern and had a diminished far bias in left hemispace. For both groups, spatial presentation affected performance more for the non-dominant eye. The results suggest that monocular viewing is associated with preferential activation of attentional systems in the contralateral hemisphere, and that the right hemisphere (at least in right eye dominant subjects) is biased towards far space. Finally, the results suggest that the poorly understood phenomenon of eye dominance may be related to hemispheric specialization for visual attention.

Finding language in the matter of the brain: origins of the clinical aphasia examination.

The origins of the aphasia examination can be traced back to the 19th century when physicians and scientists began to understand how higher mental functions such as language could be localized in the brain. Paul Broca, Carl Wernicke, and Hughlings Jackson developed different models of brain function, and each contributed important insights to the study of aphasia. Broca's contributions were influenced by the fundamental question of whether higher mental function could be localized in the brain at all; Wernicke's contributions were influenced by an attempt to unite more mechanistic and physiological principles to a model of higher brain functions; and Jackson's contributions were influenced by British association psychology. In addition to reviewing the origins of the aphasia examination, this article reviews the historical context in which these contributors worked, the factors that affected the reception of their views, and the manner in which their views have affected the aphasia examination and understanding of aphasia today.