Multivariate Models of Animal Sex: Breaking Binaries Leads to a Better Understanding of Ecology and Evolution.

"Sex" is often used to describe a suite of phenotypic and genotypic traits of an organism related to reproduction. However, these traits-gamete type, chromosomal inheritance, physiology, morphology, behavior, etc.-are not necessarily coupled, and the rhetorical collapse of variation into a single term elides much of the complexity inherent in sexual phenotypes. We argue that consideration of "sex" as a constructed category operating at multiple biological levels opens up new avenues for inquiry in our study of biological variation. We apply this framework to three case studies that illustrate the diversity of sex variation, from decoupling sexual phenotypes to the evolutionary and ecological consequences of intrasexual polymorphisms. We argue that instead of assuming binary sex in these systems, some may be better categorized as multivariate and nonbinary. Finally, we conduct a meta-analysis of terms used to describe diversity in sexual phenotypes in the scientific literature to highlight how a multivariate model of sex can clarify, rather than cloud, studies of sexual diversity within and across species. We argue that such an expanded framework of "sex" better equips us to understand evolutionary processes, and that as biologists, it is incumbent upon us to push back against misunderstandings of the biology of sexual phenotypes that enact harm on marginalized communities.

Sex and Biology: Broader Impacts Beyond the Binary.

What are the implications of misunderstanding sex as a binary, and why is it essential for scientists to incorporate a more expansive view of biological sex in our teaching and research? This roundtable will include many of our symposium speakers, including biologists and intersex advocates, to discuss these topics and visibilize the link between ongoing reification of dyadic sex within scientific communities and the social, political, and medical oppression faced by queer, transgender, and especially intersex communities. As with the symposium as a whole, this conversation is designed to bring together empirical research and implementation of equity, inclusion, and justice principles, which are often siloed into separate rooms and conversations at academic conferences. Given the local and national attacks on the rights of intersex individuals and access to medical care and bodily autonomy, this interdisciplinary discussion is both timely and urgent.

Comparative phylogeography reveals widespread cryptic diversity driven by ecology in Panamanian birds.

Widespread species often harbor unrecognized genetic diversity, and investigating the factors associated with such cryptic variation can help us better understand the forces driving diversification. Here, we identify potential cryptic species based on a comprehensive dataset of COI mitochondrial DNA barcodes from 2,333 individual Panamanian birds across 429 species, representing 391 (59%) of the 659 resident landbird species of the country, as well as opportunistically sampled waterbirds. We complement this dataset with additional publicly available mitochondrial loci, such as ND2 and cytochrome b, obtained from whole mitochondrial genomes from 20 taxa. Using barcode identification numbers (BINs), we find putative cryptic species in 19% of landbird species, highlighting hidden diversity in the relatively well-described avifauna of Panama. Whereas some of these mitochondrial divergence events corresponded with recognized geographic features that likely isolated populations, such as the Cordillera Central highlands, the majority (74%) of lowland splits were between eastern and western populations. The timing of these splits are not temporally coincident across taxa, suggesting that historical events, such as the formation of the Isthmus of Panama and Pleistocene climatic cycles, were not the primary drivers of cryptic diversification. Rather, we observed that forest species, understory species, insectivores, and strongly territorial species-all traits associated with lower dispersal ability-were all more likely to have multiple BINs in Panama, suggesting strong ecological associations with cryptic divergence. Additionally, hand-wing index, a proxy for dispersal capability, was significantly lower in species with multiple BINs, indicating that dispersal ability plays an important role in generating diversity in Neotropical birds. Together, these results underscore the need for evolutionary studies of tropical bird communities to consider ecological factors along with geographic explanations, and that even in areas with well-known avifauna, avian diversity may be substantially underestimated.

Especies extendidas frecuentemente tiene diversidad genética no reconocida, y investigando los factores asociados con esta variación críptica puede ayudarnos a entender las fuerzas que impulsan la diversificación. Aquí, identificamos especies crípticas potenciales basadas en un conjunto de datos de códigos de barras de ADN mitocondrial de 2,333 individuos de aves de Panama en 429 especies, representando 391 (59%) de las 659 especies de aves terrestres residentes del país, además de algunas aves acuáticas muestreada de manera oportunista. Adicionalmente, complementamos estos datos con secuencias mitocondriales disponibles públicamente de otros loci, tal como ND2 o citocroma b, obtenidos de los genomas mitocondriales completos de 20 taxones. Utilizando los números de identificación de código de barras (en ingles: BINs), un sistema taxonómico numérico que proporcina una estimación imparcial de la diversidad potencial a nivel de especie, encontramos especies crípticas putativas en 19% de las especies de aves terrestres, lo que destaca la diversidad oculta en la avifauna bien descrita de Panamá. Aunque algunos de estos eventos de divergencia conciden con características geográficas que probablemente aislaron las poblaciones, la mayoría (74%) de la divergencia en las tierras bajas se encuentra entre las poblaciones orientales y occidentales. El tiempo de esta divergencia no coincidió entre los taxones, sugiriendo que eventos históricos tales como la formación del Istmo de Panamá y los ciclos climáticos del pleistoceno, no fueron los principales impulsores de la especiación. En cambio, observamos asociaciones fuertes entre las características ecológicas y la divergencia mitocondriale: las especies del bosque, sotobosque, con una dieta insectívora, y con territorialidad fuerte mostraton múltiple BINs probables. Adicionalmente, el índice mano-ala, que está asociado a la capacidad de dispersión, fue significativamente menor en las especies con BINs multiples, sugiriendo que la capacidad de dispersión tiene un rol importamente en la generación de la diversidad de las aves neotropicales. Estos resultos demonstran la necesidad de que estudios evolutivos de las comunidades de aves tropicales consideren los factores ecológicos en conjunto con las explicaciones geográficos.

Coarctation of the aorta in male cousins with similar maternal environmental exposure to insect repellent and insecticides.

Two male infants, whose mothers are sisters and whose fathers are unrelated, were born within two weeks of each other. Both infants had coarctation of the aorta. Since both mothers were exposed to an insecticide while on a camping trip in the first trimester of pregnancy, it is unknown whether genetic or environmental factors caused the anomalies. Observations should be made on other patients with congenital heart defects to clarify the etiologic factors.

Neonatal mercury vapor exposure in an infant incubator.

A healthy newborn infant acquired a substantial body burden of mercury by inhaling mercury vapor originating from a broken mercury expansion switch in the heating unit of an infant incubator. Highly toxic mercury vapor is produced in quantity by heating otherwise harmless metallic mercury. Switches and thermometers that contain mercury should be removed from infant incubators.

Prospective management of exstrophy of the cloaca and myelocystocele following prenatal ultrasound recognition of neural tube defects in identical twins.

We describe identical twins concordant for exstrophy of the cloaca and myelocystocele. Their management and subsequent course was strongly influenced by prenatal ultrasound recognition of neural tube defects in both twins and severe renal dysplasia in one of the fetuses. The genetic aspects of this case are consistent with existing causal theories of exstrophy of the cloaca.

Intrathecal baclofen for management of spastic cerebral palsy: multicenter trial.

Intrathecal baclofen infusion has demonstrated effectiveness in decreasing spasticity of spinal origin. Oral antispasticity medication is minimally effective or not well tolerated in cerebral palsy. This study assessed the effectiveness of intrathecal baclofen in reducing spasticity in cerebral palsy. Candidates were screened by randomized, double-blind, intrathecal injections of baclofen and placebo. Responders were defined as those who experienced an average reduction of 1.0 in the lower extremities on the Ashworth Scale for spasticity. Responders received intrathecal baclofen via the SynchroMed System and were followed for up to 43 months. Fifty-one patients completed screening and 44 entered open-label trials. Lower-extremity spasticity decreased from an average baseline score of 3.64 to 1.90 at 39 months. A decrease in upper extremity spasticity was evidenced over the same study period. Forty-two patients reported adverse events. Most common reports were hypotonia, seizures (no new onset), somnolence, and nausea or vomiting. Fifty-nine percent of the patients experienced procedural or system-related events. Spasticity in patients with cerebral palsy can be treated effectively by continuous intrathecal baclofen. Adverse events, although common, were manageable.

Comparison of functional outcomes from orthopedic and neurosurgical interventions in spastic diplegia.

Selective dorsal rhizotomy (SDR) and orthopedic surgery, in the form of muscle-tendon (MT) lengthening surgery are commonly performed in ambulatory children with spastic diplegia to improve their level of motor function. This investigation is a post hoc comparison of the functional effects from each of these surgical options in 30 patients with spastic diplegia who underwent one of these interventions as their initial surgical procedure. Sixteen children underwent SDR and 14 underwent MT surgery in two separate prospective clinical trials. The same functional outcome measures preoperatively and approximately 1 year postoperatively were used in both studies including temporospatial parameters from three-dimensional gait analysis, the total score, and score on each of the five dimensions of the Gross Motor Function Measure (GMFM). Comparisons indicate that patients who underwent SDR had significant improvements in GMFM Dimensions 2, 4, and 5 as well as in total score, although 63% of those studied had a 10% or more reduction in gait velocity. Gait was more predictably improved in the MT group, with only 21% demonstrating reductions in velocity. Conversely, the change in GMFM scores in the MT group was not as pervasive and skewed toward higher skills with only GMFM Dimension 5 and total score improved significantly. Several important hypotheses are derived from these comparisons. Multicenter clinical trials are needed to define more clearly the indications for and to assess more comprehensively the outcomes from each intervention.

Iron deficiency anemia in children with exstrophy of the cloaca.

The clinical records of twenty-five children with exstrophy of the cloaca (EC) were retrospectively reviewed to evaluate the prevalence and the clinical characteristics of iron deficiency anemia (IDA). Five of the 25 children with EC (20 %) exhibited IDA at some point. Their ages at the time of diagnosis were between 1.9 and 13.0 years. In the four cases where IDA was thought to be related to iron malabsorption secondary to short-bowel syndrome, its treatment required longer periods of iron supplementation to correct the anemia and to restore the total body iron stores. Physicians caring for children with EC should monitor for and treat IDA as part of a comprehensive management plan.

Recurrent hypothermia and thrombocytopenia after severe neonatal brain infection.

Two children with multiple severe disabilities due to brain destruction by neonatal infection had recurrent hypothermia (less than 34 degrees C) with associated thrombocytopenia (less than 50,000), and clinical hemorrhage. They also had milder, less consistent erythroid and myeloid cell line abnormalities. The hypothermia was presumed to be due to hypothalamic dysfunction. Rewarming was always followed by correction of hematologic problems, but normal temperature was difficult to maintain. Recognition of this entity may improve long-term management of some severely disabled children.

Developmentally disabled infants can be hard to trace.

The purpose of this study was to determine how well the existing medical care system in a large geographic region communicates about and keeps track of the developmental problems of infants receiving tertiary inpatient care. Two hundred thirty-seven infants hospitalized in the first months of life were tracked, using a postal questionnaire at a mean age of 20 months. A discharge summary was present in 98 percent of charts, and a follow-up physician was identified in 95%. Questionnaires were returned by 116 physicians about 182 infants (77%). Seventy-one physicians had received a discharge summary. Current developmental information was obtained for 111 infants: 44 normal, 52 with known disabilities, and 15 with developmental delays. One hundred twenty-six infants could not be located at the time of the study. We conclude that many infants likely to have major disabilities are hard to track using simple retrospective techniques.

Current practice of occupational therapy for children with autism.

OBJECTIVE: The purpose of this study was to examine the current practice patterns of occupational therapists experienced in working with children with autism spectrum disorders. METHOD: Occupational therapists experienced in providing services to 2-year-old to 12-year-old children with autism completed a mail questionnaire describing practice patterns, theoretical approaches, intervention techniques, and preferred methods of preparation for work with children with autism. RESULTS: Of those contacted, 72 occupational therapists met the study criteria and returned completed questionnaires. Practice patterns included frequent collaboration with other professionals during assessment and intervention. Intervention services were typically provided in a one-to-one format with the most common techniques being sensory integration (99%) and positive reinforcement (93%). Theoretical approaches included sensory integration (99%), developmental (88%), and behavioral (73%). Evaluations relied heavily on nonstandardized tools and clinical observations. Educational methods identified as most helpful were weekend workshops (56%) and on-the-job training (52%). CONCLUSION: This study clarified the nature of current occupational therapy practice patterns for 2-year-old to 12-year-old children with autism. Additional studies are needed to examine the efficacy of current evaluation and intervention methods, as well as to explore the relevance of available standardized assessments for this population.

Developmental dyspraxia in a family with X-linked mental retardation (Renpenning syndrome).

This paper describes the existence of severe developmental speech dyspraxia in a member of a family that is typical of other reports of X-linked mental retardation without physical abnormality (Renpenning syndrome). Other family members have evidence of motor or speech dyspraxia. Other reports of X-linked mental retardation have mentioned "verbal disability", which suggests that developmental dyspraxia may be quite common in these families. Developmental dyspraxia of speech is amenable to specific types of intervention: after two years of such intervention our patient's adaptive skills reflect his normal non-verbal intellectual ability, despite persistent speech deficits. This functional improvement shows how important it is to identify dyspraxia in young children, who may otherwise be labelled mentally retarded.

Mechanical efficiency of children with spastic cerebral palsy.

In this feasibility study, the authors compared the mechanical efficiency of nine children with spastic diplegia with that of nine able-bodied children, matched for gender. They also compared resting energy expenditure in the two groups. The children with CP had significant reductions in mechanical efficiency at maximum stable work-load and marginally significant reductions when they were compared at 200 kg-m/min work-load. The efficiency of able-bodied children at 200 kg-m/min was unexpectedly reduced. There were no differences in resting energy expenditure. Mechanical efficiency may be a useful objective technique to assess the effects of interventions intended to improve the efficiency of the movement of children with CP.

The measurement of health-related quality of life (HRQL) in children with cerebral palsy.

The measurement of health-related quality of life (HRQL) in children with cerebral palsy is part of an emerging discipline. Theoretical models of disability and chronic illness developed by the World Health Organization, the National Center for Medical Rehabilitation Research and others are being adapted for children. Development of HRQL measures in paediatrics lags behind the work completed with adults due to challenges unique to children, such as what domains to measure, whose perspective to address and the developmental changes inherent to children. The descriptive HRQL studies of children with moderate to severe cerebral palsy and comparisons of children with quadriplegia vs. diplegia and hemiplegia are presented. Consistent with the functional measures, no significant difference in HRQL by treatment was documented in children with spastic diplegia participating in a randomized clinical trial of selective dorsal rhizotomy. HRQL measures that are specifically tailored to cerebral palsy need to be developed. Generic and individualized measures of HRQL are currently available and while limited, may be useful for evaluating the effect of different treatments for spasticity on the quality of life in children with cerebral palsy.