Nutritional Phases in Prader-Willi Syndrome: Evolutionary and Clinical Interpretations

Prader-Willi syndrome (PWS) is caused by a lack of expression of paternally-expressed imprinted genes at human chromosome 15q11–13 and is characterized by a switch from infant anorexia to childhood hyperphagia. A recent multiphase staging system recognizes gradual changes between the anorexic and hyperphagic phases of PWS. We undertook to use clinical records from an independent population to assess the multiphase system and explore the implications for the evolution of distinctive features of human childhood. Medical records of 258 clinic visits by 55 patients with PWS were reviewed with a focus on appetite and feeding. These clinical records were found to be inadequate for placing patients into particular stages of the multiphase system. Under the multiphase system, the onset of hyperphagia in PWS appears to coincide more with the timing of adrenarche than weaning from the breast and this timing should frame future evolutionary hypotheses. We discuss challenges encountered while attempting to use clinical data to explore evolutionary questions, but also identify useful information contained in the records.Organismic and Evolutionary Biolog

Family caregiver use and value of support services in the VA Program of comprehensive assistance for family caregivers

Context: The US Congress in 2010 established the Program of Comprehensive Assistance for Family Caregivers (PCAFC) in the Department of Veterans Affairs’ (VA) healthcare system, expanding services for family caregivers of eligible veterans with injuries sustained or aggravated in the line of duty on or after 11 September 2001. The program includes a Caregiver Support Coordinator, stipends for caregivers, education/training, and additional services. Objective: The primary goal of this study was to examine the types of services that family caregivers of veterans use and value, how services are used and any limitations family caregivers’ experienced. Given that few interventions assess caregiver satisfaction with services, there is a gap in the existing literature addressing these outcomes. Methods: We assessed how caregivers use and value services with a national, web-based survey (N=1,407 caregivers) and semi-structured phone interviews (N=50 caregivers). Findings: Caregivers rated all services as helpful and especially valued financial support to be with the veteran, training in skills for symptom management, and assistance with navigating the healthcare system. A majority reported more confidence in caregiving, knowing about resources for caregiving and feeling better prepared to support the veteran’s progress and healthcare engagement. However, only a minority reported awareness of the full range of PCAFC services. Limitations: There was a low response rate to the survey, which may have implications for generalisability to the whole population of caregivers accessing PCAFC. Additionally, we rely on self-report rather than objective measures of service use and outcomes. Implications: This is the first in-depth examination of experiences of caregivers of using the innovative PCAFC model of support. It acknowledges the important role of caregivers in health and long-term (social) care delivery and can be used to inform development of strategies outside the VA healthcare system to recognise caregivers. Findings suggest that a system-wide program to effectively include caregivers as part of the care team should include mechanisms to help connect caregivers with an array of resources, options from which to find those which best fit their personal needs and preferences

Managing branding and corporate image for library and information services

Suggests that the creation of a brand is an important element of the promotional process, and is central to the use of promotion to convey a consistent message to customers about the nature of the organization and its products. Defines the nature of a brand and of associated concepts, such as corporate identity and corporate image. Identifies the benefits and disadvantages of branding. Explores an approach to the creation of a brand for a library and information service

The tempo of human childhood: a maternal foot on the accelerator, a paternal foot on the brake

Abstract Relative to the life history of other great apes, that of humans is characterized by early weaning and short interbirth intervals (IBIs). We propose that in modern humans, birth until adrenarche, or the rise in adrenal androgens, developmentally corresponds to the period from birth until weaning in great apes and ancestral hominins. According to this hypothesis, humans achieved short IBIs by subdividing ancestral infancy into a nurseling phase, during which offspring fed at the breast, and a weanling phase, during which offspring fed specially prepared foods. Imprinted genes influence the timing of human weaning and adrenarche, with paternally expressed genes promoting delays in childhood maturation and maternally expressed genes promoting accelerated maturation. These observations suggest that the tempo of human development has been shaped by consequences for the fitness of kin, with faster development increasing maternal fitness at a cost to child fitness. The effects of imprinted genes suggest that the duration of the juvenile period (adrenarche until puberty) has also been shaped by evolutionary conflicts within the family

Response to vocal music in Angelman syndrome contrasts with Prader-Willi syndrome

Parent-offspring conflict, or the conflict over resources between parents and their children due to differences in genetic relatedness, is the biological foundation for a variety of psychological phenomena, including sibling rivalry and child abuse. This form of conflict is particularly relevant to the domain of parental investment: the provisioning of resources to offspring by parents and alloparents. The kinship theory of genomic imprinting is the primary evolutionary explanation for the occurrence of specialized genetic expression in chromosomal domains relevant to phenotypic expression of parent-offspring conflict. Specifically, complementary parental contributions in the same region of the genome promote opposing parental demand behaviors. This theory predicts that people with genomic imprinting disorders will show alterations in traits and behaviors related to parental investment. In this paper, we apply this prediction to the psychological resource of parental attention, for which vocalizations in general, and music in particular, may be an honest signal. Individuals with Prader-Willi syndrome show increased physiological responses to music listening consistent with a reduced demand for parental investment. Here we report the complementary pattern necessary to support the theory: we find that individuals with Angelman syndrome demonstrate a relatively reduced physiological response to music, consistent with an increased demand for parental investment. In addition to presenting evidence of the value of applying the kinship theory of genomic imprinting to psychological phenomena, these data provide a comprehensive test of the theory that at least one aspect of human musical psychology evolved to mediate conflict over attentional demands between parents and offspring

Response to music in Angelman syndrome contrasts with Prader-Willi syndrome

This repository stores data for Kotler et al., 2019, Evolution and Human Behavior

Genomic imprinting is implicated in the psychology of music

Why do we sing to babies? Human infants are relatively altricial and need their parents' attention to survive. Infant-directed song may constitute a signal of that attention. In the rare genomic imprinting disorder Prader-Willi syndrome (PWS), typically paternally-expressed genes from chromosome 15q11–q13 are unexpressed, resulting in exaggeration of traits that reduce offspring investment demands on the mother. PWS may thus be associated with a distinctive musical phenotype. We report unusual responses to music in PWS. Subjects (N = 39) moved more during music listening, exhibited greater reductions in heart rate in response to music listening, and displayed a specific deficit in pitch discrimination ability relative to typically-developing adults and children (N = 589). Paternally-expressed genes from 15q11–q13, unexpressed in PWS, may thus increase demands for music and enhance perceptual sensitivity to music. These results implicate genomic imprinting in the psychology of music, informing theories of music's evolutionary history

Genomic imprinting is implicated in the psychology of music

Why do we sing to babies? Human infants are relatively altricial and need their parents' attention to survive. Infant-directed song may constitute a signal of that attention. In the rare genomic imprinting disorder Prader-Willi syndrome (PWS), typically paternally-expressed genes from chromosome 15q11–q13 are unexpressed, resulting in exaggeration of traits that reduce offspring investment demands on the mother. PWS may thus be associated with a distinctive musical phenotype. We report unusual responses to music in PWS. Subjects (N = 39) moved more during music listening, exhibited greater reductions in heart rate in response to music listening, and displayed a specific deficit in pitch discrimination ability relative to typically-developing adults and children (N = 589). Paternally-expressed genes from 15q11–q13, unexpressed in PWS, may thus increase demands for music and enhance perceptual sensitivity to music. These results implicate genomic imprinting in the psychology of music, informing theories of music's evolutionary history