Literature search from ms 29/4/2010

Patten, S. B., J. V. Williams, et al. (2006). "Mental disorders in a population sample with musculoskeletal disorders." BMC Musculoskeletal Disorders 7: 37.

BACKGROUND: Studies using clinical and volunteer samples have reported an elevated prevalence of mood disorders in association with rheumatoid arthritis and osteoarthritis. Clinical studies using anxiety rating scales have reported inconsistent results, but studies using diagnostic instruments have reported that anxiety disorders may be even more strongly associated with arthritis than is depression. One study reported an association between lifetime substance use disorders and arthritis. METHODS: Data from iteration 1.2 of the Canadian Community Health Survey (CCHS) were used. This was a large-scale national Canadian health survey which administered the World Mental Health Composite International Diagnostic Interview to a sample of 36,984 subjects randomly selected from the national population. In the CCHS 1.2, subjects were asked whether they had been diagnosed by a health professional with arthritis or rheumatism. RESULTS: Subjects reporting arthritis or rheumatism had an elevated prevalence of mood, anxiety and substance use disorders. The strength of association resembled that seen in an omnibus category reporting any chronic condition, but was weaker than that seen with back pain or fibromyalgia. The effect of arthritis or rheumatism interacted with age, such that the odds ratios became smaller with increasing age. Mood and anxiety disorders, along with arthritis or rheumatism made an independent contribution to disability. CONCLUSION: Arthritis is associated with psychiatric morbidity in the general population, and this morbidity is seen across a variety of mental disorders. The strength of association is consistent with that seen in persons with other self-reported medical conditions.

Patten, S. B. and J. V. A. Williams (2007). "Chronic obstructive lung diseases and prevalence of mood, anxiety, and substance-use disorders in a large population sample." PSYCHOSOMATICS 48(6): 496-501.

Only a few population-based studies have examined prevalence of mental disorder in people with chronic respiratory conditions. Clinical studies have yielded mixed results. In this analysis, data from the 2002 Canadian Community Health Survey (CCHS) were used. This was a national health survey that included administration of the World Mental Health Composite International Diagnostic Interview to a sample of 36,984 subjects. Participants were asked about chronic medical conditions that had been diagnosed by a health professional. Chronic respiratory conditions were associated with major depressive disorder, bipolar disorder, panic disorder (including agoraphobia), social phobia, and substance dependence. Although the observed associations were statistically highly significant, the prevalence estimates were lower than previous reports from studies using clinical samples, suggesting that selection bias may have influenced some estimates.

Patten, S. B., J. V. A. Williams, et al. (2006). "Self-reported thyroid disease and mental disorder prevalence in the general population." GENERAL HOSPITAL PSYCHIATRY 28(6): 503-8.

OBJECTIVE: Community studies have failed to confirm that biochemically assessed thyroid status is significantly associated with psychopathology. However, it has been reported that self-reported thyroid disease is associated with symptoms of depression and anxiety. The objective of the current study was to determine whether self-reported thyroid disease is associated with elevated mental disorder prevalence in the general population. METHOD: Data from the Canadian Community Health Survey (CCHS) 1.2: Mental Health and Well-being were used. The CCHS 1.2 included the World Mental Health version of the Composite International Diagnostic Interview and collected self-report data about professionally diagnosed chronic medical conditions, including thyroid disease. RESULTS: Twelve-month and lifetime mental disorder prevalence was higher in subjects with thyroid disease than in subjects reporting no chronic conditions. For each condition examined (major depressive disorder, bipolar disorder, panic disorder/agoraphobia and social phobia), the 12-month and lifetime prevalence in subjects with thyroid disease resembled that of an aggregate category of subjects having other chronic conditions. After adjustment for age, sex and other chronic conditions, only social phobia was found to be associated with thyroid disease. CONCLUSIONS: People with thyroid disease are not a particularly high-need group for mental disorder screening or intervention, at least not in the community population.

Pattyn, A., C. Goridis, et al. (2000). "Specification of the central noradrenergic phenotype by the homeobox gene Phox2b." MOLECULAR AND CELLULAR NEUROSCIENCES 15(3): 235-243.

The closely related homeobox genes Phox2a and Phox2b are expressed in all central and peripheral noradrenergic neurons. Our previous results have shown that Phox2a controls the differentiation of the main noradrenergic center of the brain, the locus coeruleus, but leaves unaffected the other noradrenergic centers. Here, we report that Phox2b has a wider and overlapping role, in that it is required for the differentiation of all noradrenergic centers in the brain, including the locus coeruleus. Together with the previously reported lack of dopamine-b-hydroxylase and tyrosine hydroxylase expression in the peripheral nervous system of Phox2b knock-out embryos, our present findings make Phox2b a master regulator of all central and peripheral noradrenergic differentiation. We discuss the nonredundancy of Phox2 genes and their complex partnership with the bHLH transcription factor Mash1, which is also required for the differentiation of most noradrenergic cell types.

Pattyn, A., M. R. Hirsch, et al. (2000). "Control of hindbrain motor neuron differentiation by the homeobox gene Phox2b." DEVELOPMENT 127(7): 1349-1358.

Motor neurons are a widely studied model of vertebrate neurogenesis. They can be subdivided in somatic, branchial and visceral motor neurons. Recent studies on the dorsoventral patterning of the rhombencephalon have implicated the homeobox genes Pax6 and Nkx2.2 in the early divergence of the transcriptional programme of hindbrain somatic and visceral motor neuronal differentiation. We provide genetic evidence that the paired-like homeodomain protein Phox2b is required for the formation of all branchial and visceral, but not somatic, motor neurons in the hindbrain. In mice lacking Phox2b, both the generic and subtype-specific programs of motoneuronal differentiation are disrupted at an early stage. Most motor neuron precursors die inside the neuroepithelium while those that emigrate to the mantle layer fail to switch on early postmitotic markers and to downregulate neuroepithelial markers. Thus, the loss of function of Phox2b in hindbrain motor neurons exemplifies a novel control point in the generation of CNS neurons.

Pattyn, A., X. Morin, et al. (1997). "Expression and interactions of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis." DEVELOPMENT 124(20): 4065-4075.

Recent evidence suggests that specific families of homeodomain transcription factors control the generation and survival of distinct neuronal types. We had previously characterized the homeobox gene Phox2a, which is expressed in differentiating neurons of the central and peripheral autonomic nervous system as well as in motor nuclei of the hindbrain. Targeted deletion of the Phox2a gene affects part of the structures in which it is expressed: the locus coeruleus, visceral sensory and parasympathetic ganglia and, as we show here, the nuclei of the IIIrd and IVth cranial nerves. We now report on the characterization of Phox2b, a close relative of Phox2a, with an identical homeodomain. Phox2a and Phox2b are co-expressed at most sites therefore suggesting a broader role for Phox2 genes in the specification of the autonomic nervous system and cranial motor nuclei than revealed by the Phox2a knock-out mice. A detailed analysis of the relative timing of Phox2a and Phox2b expression at various sites suggests positive cross-regulations, which are substantiated by the loss of Phox2b expression in cranial ganglia of Phox2a-deficient mice. In the major part of the rhombencephalon, Phox2b expression precedes that of Phox2a and starts in the proliferative neuroepithelium, in a pattern strikingly restricted on the dorsoventral axis and at rhombomeric borders. This suggests that Phox2b links early patterning events to the differentiation of defined neuronal populations in the hindbrain.

Pattyn, A., X. Morin, et al. (1999). "The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives." NATURE 399(6734): 366-370.

The sympathetic, parasympathetic and enteric ganglia are the main components of the peripheral autonomic nervous system, and are all derived from the neural crest. The factors needed for these structures to develop include the transcription factor Mash 1 (refs 3-5), the glial-derived neurotrophic factor GNDF (refs 67-8) and its receptor subunits, and the neuregulin signalling system, each of Which is essential for the differentiation and survival of Subsets of autonomic neurons. Here we show that all autonomic ganglia fail to form properly and degenerate in mice lacking the homeodomain transcription factor Phox2b, as do the three cranial sensory ganglia that are part of the autonomic reflex circuits. In the anlagen of the enteric nervous system and the sympathetic ganglia, Phox2b is needed for the expression of the GDNF-receptor subunit Ret and for maintaining Mash expression. Mutant ganglionic anlagen also fail to switch on the genes that encode two enzymes needed for the biosynthesis of the neurotransmitter noradrenaline, dopamine-beta-hydroxylase and tyrosine hydroxylase, demonstrating that Phox2b regulates the noradrenergic phenotype in vertebrates.

Pattyn, A., A. Vallstedt, et al. (2003). "Coordinated temporal and spatial control of motor neuron and serotonergic neuron generation from a common pool of CNS progenitors." GENES AND DEVELOPMENT 17(6): 729-737.

Neural progenitor cells often produce distinct types of neurons in a specific order, but the determinants that control the sequential generation of distinct neuronal subclasses in the vertebrate CNS remain poorly defined. We examined the sequential generation of visceral motor neurons and serotonergic neurons from a common pool of neural progenitors located in the ventral hindbrain. We found that the temporal specification of these neurons varies along the anterior-posterior axis of the hindbrain, and that the timing of their generation critically depends on the integrated activities of Nkx- and Hox-class homeodomain proteins. A primary function of these proteins is to coordinate the spatial and temporal activation of the homeodomain protein Phox2b, which in turn acts as a binary switch in the selection of motor neuron or serotonergic neuronal fate. These findings assign new roles for Nkx, Hox, and Phox2 proteins in the control of temporal neuronal fate determination, and link spatial and temporal patterning of CNS neuronal fates.

Pattyn, A., A. Vallstedt, et al. (2003). "Complementary roles for Nkx6 and Nkx2 class proteins in the establishment of motoneuron identity in the hindbrain." DEVELOPMENT 130(17): 4149-4159.

The genetic program that underlies the generation of visceral motoneurons in the developing hindbrain remains poorly defined. We have examined the role of Nkx6 and Nkx2 class homeodomain proteins in this process, and provide evidence that these proteins mediate complementary roles in the specification of visceral motoneuron fate. The expression of Nkx2.2 in hindbrain progenitor cells is sufficient to mediate the activation of Phox2b, a homeodomain protein required for the generation of hindbrain visceral motoneurons. The redundant activities of Nkx6.1 and Nkx6.2, in turn, are dispensable for visceral motoneuron generation but are necessary to prevent these cells from adopting a parallel program of interneuron differentiation. The expression of Nkx6.1 and Nkx6.2 is further maintained in differentiating visceral motoneurons, and consistent with this the migration and axonal projection properties of visceral motoneurons are impaired in mice lacking Nkx6.1 and/or Nkx6.2 function. Our analysis provides insight also into the role of Nkx6 proteins in the generation of somatic motoneurons. Studies in the spinal cord have shown that Nkx6.1 and Nkx6.2 are required for the generation of somatic motoneurons, and that the loss of motoneurons at this level correlates with the extinguished expression of the motoneuron determinant Olig2. Unexpectedly, we find that the initial expression of Olig2 is left intact in the caudal hindbrain of Nkr6.1/Nkx6.2 compound mutants, and despite this, all somatic motoneurons are missing. These data argue against models in which Nkx6 proteins and Olig2 operate in a linear pathway, and instead indicate a parallel requirement for these proteins in the progression of somatic motoneuron differentiation. Thus, both visceral-and somatic motoneuron differentiation appear to rely on the combined activity of cell intrinsic determinants, rather than on a single key determinant of neuronal cell fate.

Pauling, J. A. and P. Moore (2007). "Identification of PHOX2B gene mutation in an infant with late onset central hypoventilation syndrome British Paediatric Neurology Association Annual Meeting 2007, 17th-19th January." Developmental Medicine & Child Neurology 49: Supplement 108: 20.

Pauluis, Q., S. N. Baker, et al. (2001). "Precise burst synchrony in the superior colliculus of the awake cat during moving stimulus presentation." JOURNAL OF NEUROSCIENCE 21(2): 615-627.

This study aimed to characterize the synchrony that occurs between cell discharges in the superior colliculus of the awake cat. We trained cats to perform a visual fixation in the presence of a visual moving stimulus and then recorded 686 pairs of neighboring cells in the superior colliculus during task performance. A new method to assess the significance of precise discharge synchronization is described, which permits analysis of nonstationary data. Of 181 pairs with sufficient data for quantitative analysis, 125 showed a cross-correlation histogram (CCH) with features assessed as significant using this approach. CCHs frequently showed an isolated central peak (41 of 125) or a peak flanked by one or two troughs (68 of 125), and in a few cases an oscillatory pattern of [similar to]65 Hz (16 of 125). This is in contrast to the oscillation frequency reported for the visual cortex and shows that oscillations in the superior colliculus probably arise from a cortex-independent mechanism. Our method also permits direct quantification of the correlation shift predictors, assessing precise time locking of spikes to the stimulus. Only 1 of 125 cross-correlation shift predictors had a significant central peak, meaning that most of the CCH features were not related to cell discharges time-locked to the stimulus presentation. Further investigation using a burst-jittering method showed that synchrony in the superior colliculus is attributable to precise synchronization of short bursts of spikes. Such synchrony could be related to the network dynamics and the common inhibitory feedback from local interneurons, which would act as temporal selectors of the cells with greatest or fastest response.
Pearl, P. L. (2002). "Childhood sleep disorders: diagnostic and therapeutic approaches." Current Neurology & Neuroscience Reports 2(2): 150-7.

Pediatric sleep physiology begins with development of the sleep/wake cycle, and the origins of active versus quiet sleep. The 24-hour circadian cycle becomes established at 3 to 6 months. Sleep disorders are rationally approached in pediatrics as age-related. Disorders during infancy commonly include mild, usually self-limited conditions such as sleep-onset association disorder, excessive nighttime feedings, and poor limit-setting. These require behavioral management to avoid long-term deleterious sleep habits. In contrast, other sleep disorders are more ominous, including sudden infant death syndrome (SIDS), central congenital hypoventilation syndrome, and sleep apnea. Childhood is generally the golden age of sleep, with brief latency, high efficiency, and easy awakening. Parasomnias, sometimes stage specific, are manifest here. Adolescents have sleep requirements similar to preteens, posing a challenge for them to adapt to school schedules and lifestyles. Narcolepsy, usually diagnosed in adolescence or early adulthood, is a lifelong sleep disorder that has led to the identification of the hypocretin/orexin neurotransmitter system. This will lead to enhanced understanding of what regulates stage rapid eye movement, and to novel therapeutic advances for hypersomnolence. [References: 47]

Pearl, P. L., L. Efron, et al. (2002). "Children, sleep, and behavior: a complex association." MINERVA PEDIATRICA 54(2): 79-91.

Pediatric sleep physiology begins with development of the sleep/wake cycle, and the origins of active versus quiet sleep. The 24-hour circadian cycle becomes established at 3-6 months. Sleep disorders during infancy commonly include mild, usually self-limited conditions such as sleep-onset association disorder, excessive nighttime feedings, and poor limit-setting. These require behavioral management to avoid long-term deleterious sleep habits. In contrast, other sleep disorders are more ominous, including SIDS, central congenital hypoventilation syndrome, and sleep apnea. Childhood is generally considered the golden age of sleep, with brief latency to sleep onset, high efficiency, and easy awakening. Yet parasomnias, psychological factors, and sleep disturbances associated with common disorders such as ADHD disrupt the idealistic notion of childhood being a period of unfettered sleep. Adolescents have sleep requirements similar to adults, posing a challenge for them to adapt to school schedules and increasingly demanding lifestyles. Narcolepsy, usually diagnosed in adolescence or early adulthood, is a lifelong sleep disorder and has led to the identification of the hypocretin/orexin neurotransmitter system. Research advances in the complex interrelationships between developmental neurobiology, sleep disorders and behavior will lead to an enhanced understanding of the pathophysiology of sleep problems and lead to novel therapeutic strategies for sleep disturbances in children. [References: 64]

Pedroso, J. L., R. F. Baiense, et al. (2009). "Ondine's curse after brainstem infarction." Neurology India 57(2): 206-7.

This report describes a rare case of acquired Ondine's curse. The patient developed central sleep apnea syndrome named Ondine's curse after a brainstem infarction. Lesions involving the descending medullocervical pathways that subserve automatic breathing can result in this syndrome.

Perri, P., T. Bachetti, et al. (2005). "PHOX2B mutations and genetic predisposition to neuroblastoma." ONCOGENE 24(18): 3050-3.

Neuroblastoma (NB) is a childhood malignancy originating from neural crest cells, which seldom occurs in association with other neurocristopathies. Owing to the rarity of familial NB cases, only a few linkage data are available and no mutations in candidate genes have been demonstrated up till now. Germline mutations in a small proportion of NB patients have been recently reported in the paired-like homeobox 2B (PHOX2B) gene, suggesting its role in NB predisposition. On the basis of this indication, we screened three Italian families with recurrence of NB and one family with occurrence of ganglioneuroblastoma and isolated Hirschsprung disease for PHOX2B defects. Our analysis did not show any mutation, excluding PHOX2B as the NB susceptibility gene in the families we analysed. Our findings combined with those derived from other PHOX2B mutation screenings and from genome-wide linkage analysis support a remarkable genetic heterogeneity of NB and suggest an oligogenic model of disease transmission. Furthermore, as PHOX2B mutations were mainly observed in some NB families with multifocal and syndromic NB, features that are missing in the families we have studied, we suggest they represent second-site modifications responsible for a specific phenotype rather than causal mutations of a major locus.

Peterson, L. W., G. Kuo, et al. (1990). "Life-threatening behavior problem in a child with Ondine's curse." HOSPITAL PRACTICE 25(10): 143-4.

Pieters, T., J. J. Amy, et al. (1995). "Normal pregnancy in primary alveolar hypoventilation treated with nocturnal nasal intermittent positive pressure ventilation." EUROPEAN RESPIRATORY JOURNAL 8(8): 1424-7.

Nocturnal nasal intermittent positive pressure ventilation (NIPPV) is increasingly used to treat chronic respiratory failure in a wide variety of conditions (myopathies, Ondine's curse, kyphoscoliosis, etc.) and allows a normal everyday life. Some of these diseases affect women of childbearing age. We report on a young woman suffering from primary alveolar hypoventilation, who presented with limitation of daytime activities, severe oxygen desaturation during sleep, polycythaemia and pulmonary hypertension. These abnormalities completely reversed after a few months of NIPPV applied through a nasal mask. Whilst under ventilatory assistance during sleep, she had an uneventful pregnancy and delivery of a normal baby. We suggest that in selected patients requiring NIPPV, pregnancy can be contemplated with a reasonable level of safety both for the mother and the child, provided that adequate mechanical ventilatory assistance during sleep is maintained throughout pregnancy.
Pine, D. S., D. E. Weese-Mayer, et al. (1994). "Anxiety and congenital central hypoventilation syndrome." AMERICAN JOURNAL OF PSYCHIATRY 151(6): 864-70.

OBJECTIVE: It has been hypothesized that individuals who cannot perceive elevations of CO2 will be less anxious than individuals with intact CO2 perception. To test this hypothesis, children with congenital central hypoventilation syndrome, who have a potentially lethal chronic illness associated with lack of CO2 perception and thus provide a natural experimental group, were studied. METHOD: Rates of anxiety symptoms and disorders in children with congenital central hypoventilation syndrome (N = 13) were compared with rates in an age-matched, nonreferred group of community subjects (N = 292) that included subgroups of children with asthma (N = 15) and other chronic medical illnesses (N = 66). Anxiety symptoms were assessed with information obtained from structured interviews of the parents, which provided both total symptom scores and DSM-III-R diagnoses. RESULTS: The children with congenital central hypoventilation syndrome exhibited significantly fewer anxiety symptoms than all other comparison subjects. Two of these children (15%) met criteria for anxiety disorders, a rate lower than that of the whole community group (24%) and of the chronically ill comparison subgroups (32%-47%). The largest difference in the prevalence of disorder emerged between the children with congenital central hypoventilation syndrome (15%) and those with asthma (47%). In the comparison of children with congenital central hypoventilation syndrome and children with other chronic illnesses, a priori analysis showed that the former had significantly lower rates of disorders that have been linked to panic in the literature. CONCLUSIONS: This study supports theories of anxiety that implicate CO2 perception in the pathophysiology of panic and related anxiety states.

Piran, N. and T. Gadalla (2007). "Eating disorders and substance abuse in Canadian women: a national study." ADDICTION 102(1): 105-13.

AIMS: This study aimed to examine the comorbidity between eating disorders and substance use in a large nationally representative sample of Canadian adult women. Recent as well as life-time measures of substance use were used. DESIGN: The research was based on secondary analyses of data collected, using multi-stage stratified probability sampling, by Statistics Canada in the Mental Health and Well-being cycle 1.2 of the Canadian Community Health Survey (CCHS). MEASUREMENTS: The Eating Attitude Test (EAT-26) was used to measure risk of eating disorders. Alcohol use, dependence and interference, and illicit drug use, dependence and interference were measured using relevant modules from the short form of the Composite International Diagnostic Interview (CIDI-SF). PARTICIPANTS: Data on a nationally representative sample of Canadian adult women, grouped into three age groups, were used for this research. FINDINGS: Alcohol dependence and alcohol interference were associated significantly with the risk for an eating disorder in the three adult age groups. Significant associations were also found in the three age groups between risk for an eating disorder and the life-time abuse of and dependence on illicit drugs. Significant associations were found in the 15-24 and 25-44-year age groups when the 12-month time-frame was used. CONCLUSIONS: The study findings support the call for the development of short screening instruments for adult women with eating disorders and substance abuse, as well as for the development of treatment strategies that address the co-occurrence of eating disorders and substance use