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Clinical decision-making for individuals with 46,XY disorders/differences of sex development (DSD) remains unsettled and controversial. The North American DSD Clinician Survey examines the recommendations of a large group of clinical specialists over the last two decades. Active members of the (Lawson Wilkins) Pediatric Endocrine Society and the Societies for Pediatric Urology were invited to respond to a web-based survey at three different timepoints: 2003-2004 (T1), 2010-2011 (T2), and 2019-2020 (T3). Data from 429 participants in T1, 435 in T2, and 264 in T3 were included in this study. The participants were presented with three XY newborn clinical case scenarios-micropenis, partial androgen insensitivity syndrome, and iatrogenic penile ablation-and asked for clinical management recommendations. The main outcomes assessed included the recommended gender of rearing, surgical decision-maker (parent or patient), timing of genital surgery, and age at which to disclose medical details and surgical history to the patient. For all scenarios, the overwhelming majority recommended rearing as male, including a significant increase across timepoints in those recommending a male gender of rearing for the infant with penile ablation. The proportions recommending female gender of rearing declined significantly across timepoints. In general, most recommended parents (in consultation with the physician) serve as surgical decision-makers, but these proportions declined significantly across timepoints. Recommendations on the timing of surgery varied based on the patient's gender and type of surgery. There has been a shift in recommendations away from the "optimal gender policy" regarding gender of rearing and surgical interventions for patients with XY DSD.
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Trastorno del Desarrollo Sexual 46,XY , Humanos , Masculino , Femenino , Endocrinólogos , Urólogos , América del Norte , Recién Nacido , Toma de Decisiones Clínicas , Adulto , Pautas de la Práctica en Medicina/estadística & datos numéricos , Encuestas y Cuestionarios , NiñoRESUMEN
Turner syndrome (TS) affects 50 per 100 000 females. TS affects multiple organs through all stages of life, necessitating multidisciplinary care. This guideline extends previous ones and includes important new advances, within diagnostics and genetics, estrogen treatment, fertility, co-morbidities, and neurocognition and neuropsychology. Exploratory meetings were held in 2021 in Europe and United States culminating with a consensus meeting in Aarhus, Denmark in June 2023. Prior to this, eight groups addressed important areas in TS care: (1) diagnosis and genetics, (2) growth, (3) puberty and estrogen treatment, (4) cardiovascular health, (5) transition, (6) fertility assessment, monitoring, and counselling, (7) health surveillance for comorbidities throughout the lifespan, and (8) neurocognition and its implications for mental health and well-being. Each group produced proposals for the present guidelines, which were meticulously discussed by the entire group. Four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with systematic review of the literature. The guidelines project was initiated by the European Society for Endocrinology and the Pediatric Endocrine Society, in collaboration with members from the European Society for Pediatric Endocrinology, the European Society of Human Reproduction and Embryology, the European Reference Network on Rare Endocrine Conditions, the Society for Endocrinology, and the European Society of Cardiology, Japanese Society for Pediatric Endocrinology, Australia and New Zealand Society for Pediatric Endocrinology and Diabetes, Latin American Society for Pediatric Endocrinology, Arab Society for Pediatric Endocrinology and Diabetes, and the Asia Pacific Pediatric Endocrine Society. Advocacy groups appointed representatives for pre-meeting discussions and the consensus meeting.
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Humanos , Femenino , Adolescente , Adulto , Síndrome de Turner/tratamiento farmacológico , Terapia de Reemplazo de Estrógeno , Salud de la Mujer/normas , Fertilidad , Síndrome de Turner/genética , Enfermedades Cardiovasculares , ComorbilidadRESUMEN
Outgroup and diversity attitudes are important components of intercultural understanding and well-being. Despite the potential of ethnic-racial identity development as a means to foster positive outgroup and diversity attitudes, little is known about its effectiveness in rapidly diversifying contexts such as Sweden. This pre-registered study filled this gap by examining if adolescents taking part in an intervention focused on ethnic-racial identity exploration, the Identity Project, also reported change in outgroup and diversity attitudes, and whether migration background, education type, and ethnic-racial identity development predicted such change. Twenty-three tenth-grade classes in Sweden (N = 509; Mage = 16.28; SDage = 0.80; 66% female; 51% migration background) participated in the intervention and were assessed in four waves over a period of 26 weeks. Whereas ethnic-racial identity exploration and resolution increased for the intervention group, the adolescents reported no change in outgroup and diversity attitudes when compared to a control group. Increases in ethnic-racial identity exploration and resolution co-varied with increases in attitudes, but only at Time 3. The results do not provide support for the link between ethnic-racial identity development and positive outgroup and diversity attitudes, and challenge the notion of attitude change as a cascading effect of the Identity Project intervention in non-US sociocultural contexts. All aspects of the study were pre-registered on the Open Science Framework platform ( https://osf.io/f5896 ).
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Through traditional mass media and online social media, we are almost constantly exposed to second-hand experiences of trauma and violence, providing ample opportunities for us to learn about threats through social means. This social threat learning can influence instrumental decision making through a social learning to decision-making transfer process, resembling the so-called Pavlovian to instrumental transfer effect, resulting in consequences that can be maladaptive. Here, we assessed if this influence could be diminished by extinction learning, a procedure where a previously threatening stimulus is learned to be safe, and thereby mitigate possible maladaptive consequences. To this end, we recruited 251 participants to undergo a social threat learning procedure (where they observed someone else receive electric shocks to one out of two images), followed by either a social or direct extinction procedure (in which no shocks were given), before conducting an instrumental decision-making task to measure the strength of the transfer effect. Based on theoretical considerations and previous literature, we proposed two competing hypotheses: (a) extinction learning would diminish the transfer effect or (b) the transfer effect would be robust to extinction. Our results clearly demonstrate that the social to instrumental transfer effect is remarkedly robust to extinction, supporting the second hypotheses. Irrespective of whether extinction was carried out through direct experience or social means, learning about threats through second-hand aversive experiences strongly influence instrumental behavior, suggesting that potentially maladaptive effects of social threat learning are challenging to diminish. (PsycInfo Database Record (c) 2024 APA, all rights reserved).
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Ethnicity plays a significant role in adolescents' everyday lives, but there is a limited understanding of adolescents' own experiences with how ethnicity is addressed in different contexts. Three contexts of importance during adolescence are investigated in the present study: schools, social media, and sports. A closer contextual examination has the potential to provide insights into how multiple contexts shape experiences with ethnicity. The aim of the study was to understand more about adolescents' experiences of how ethnicity is addressed in schools, on social media, and in sports. Six focus groups with a total of 21 adolescents (Mage = 14.5, SDage = 0.5, female = 76%) discussed their experiences. Data were transcribed verbatim and analyzed using a close-to-data, inductive thematic analysis. The analysis resulted in three main themes and seven subthemes, indicating that ethnicity was addressed differently in the three studied contexts. For the main theme of how ethnicity was addressed in schools, the subthemes were: Addressing ethnicity is important; Ethnicity is addressed through stereotypes and Everyday racism. The main theme of ethnicity on social media consisted of two subthemes: Sharing ethnic and cultural narratives and Hateful remarks. The main theme of ethnicity in sports also consisted of two subthemes: On equal terms and Clear consequences for racist behaviors. To better understand the multiple contexts, the results are discussed guided by the ecological systems theory. The adolescents highlighted that there are many benefits of addressing ethnicity and that it is important to do so in multiple contexts of adolescent life, just not in the same way. When ethnicity was addressed carelessly, such as through stereotypes or via racism masked as jokes, it had the potential to cause harm. When ethnicity was addressed with reflection, it instead had the potential to build understanding, lead to positive experiences, and provide learning opportunities.
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Turner syndrome (TS) affects 50 per 100 000 females. TS affects multiple organs through all stages of life, necessitating multidisciplinary care. This guideline extends previous ones and includes important new advances, within diagnostics and genetics, estrogen treatment, fertility, co-morbidities, and neurocognition and neuropsychology. Exploratory meetings were held in 2021 in Europe and United States culminating with a consensus meeting in Aarhus, Denmark in June 2023. Prior to this, eight groups addressed important areas in TS care: (1) diagnosis and genetics, (2) growth, (3) puberty and estrogen treatment, (4) cardiovascular health, (5) transition, (6) fertility assessment, monitoring, and counselling, (7) health surveillance for comorbidities throughout the lifespan, and (8) neurocognition and its implications for mental health and well-being. Each group produced proposals for the present guidelines, which were meticulously discussed by the entire group. Four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with systematic review of the literature. The guidelines project was initiated by the European Society for Endocrinology and the Pediatric Endocrine Society, in collaboration with members from the European Society for Pediatric Endocrinology, the European Society of Human Reproduction and Embryology, the European Reference Network on Rare Endocrine Conditions, the Society for Endocrinology, and the European Society of Cardiology, Japanese Society for Pediatric Endocrinology, Australia and New Zealand Society for Pediatric Endocrinology and Diabetes, Latin American Society for Pediatric Endocrinology, Arab Society for Pediatric Endocrinology and Diabetes, and the Asia Pacific Pediatric Endocrine Society. Advocacy groups appointed representatives for pre-meeting discussions and the consensus meeting.
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Síndrome de Turner , Humanos , Síndrome de Turner/terapia , Síndrome de Turner/diagnóstico , Femenino , Niño , Adolescente , Pubertad/fisiología , Adulto , Europa (Continente) , Guías de Práctica Clínica como Asunto/normasRESUMEN
OBJECTIVES: To identify the most important attributes related to the process of achieving, and outcomes associated with, successful care for differences of sex development (DSD). METHODS: We developed a best-worst scaling survey administered to 520 DSD stakeholders, including individuals or family members of those with DSD, health care specialists, and patient support and advocacy representatives. Fourteen process-related attributes and 16 outcome-related attributes were identified through qualitative research. We estimated relative importance scores and coefficients from regression analysis to understand the relative importance of attributes and conducted latent class analysis to explore heterogeneity in preferences. RESULTS: The 3 most important process attributes were (1) good communication between care team and patient/family, (2) care team educated patient/family about condition, and (3) care team incorporates the values of patient/family. The 3 most important outcome attributes were (1) patient satisfaction, (2) patient mental health, and (3) treatment maintains physical health. Latent class analyses showed that respondents had heterogeneous preferences. For process-related attributes, we identified 3 respondent groups: "Patient autonomy and support" (46% of respondents), "Education and care transitions" (18%), and "Shared decision-making" (36%). For outcome-related attributes, we identified 2 respondent groups: "Preserving function and appearance" (59% of respondents) and "Patient health and satisfaction" (41%). CONCLUSIONS: Outcomes such as patient satisfaction and health were the most important outcome attributes, and good communication and education from the care team were the most important process attributes. Respondents expressed heterogeneous preferences for selected DSD care attributes that providers should consider to improve satisfaction with and quality of DSD care.
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Trastornos del Desarrollo Sexual , Prioridad del Paciente , Humanos , Trastornos del Desarrollo Sexual/terapia , Trastornos del Desarrollo Sexual/psicología , Femenino , Masculino , Niño , Adolescente , Satisfacción del Paciente , Adulto , Grupo de Atención al Paciente , PreescolarRESUMEN
Several aspects of clinical management of 46,XX congenital adrenal hyperplasia (CAH) remain unsettled and controversial. The North American Disorders/Differences of Sex Development (DSD) Clinician Survey investigated changes, over the last two decades, in clinical recommendations by specialists involved in the management of newborns with DSD. Members of the (Lawson Wilkins) Pediatric Endocrine Society and the Societies for Pediatric Urology participated in a web-based survey at three timepoints: 2003-2004 (T1, n = 432), 2010-2011 (T2, n = 441), and 2020 (T3, n = 272). Participants were presented with two clinical case scenarios-newborns with 46,XX CAH and either mild-to-moderate or severe genital masculinization-and asked for clinical recommendations. Across timepoints, most participants recommended rearing the newborn as a girl, that parents (in consultation with physicians) should make surgical decisions, performing early genitoplasty, and disclosing surgical history at younger ages. Several trends were identified: a small, but significant shift toward recommending a gender other than girl; recommending that adolescent patients serve as the genital surgery decision maker; performing genital surgery at later ages; and disclosing surgical details at younger ages. This is the first study assessing physician recommendations across two decades. Despite variability in the recommendations, most experts followed CAH clinical practice guidelines. The observation that some of the emerging trends do not align with expert opinion or empirical evidence should serve as both a cautionary note and a call for prospective studies examining patient outcomes associated with these changes.
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Hiperplasia Suprarrenal Congénita , Humanos , Femenino , Masculino , Encuestas y Cuestionarios , Recién Nacido , América del Norte , Adolescente , Pautas de la Práctica en Medicina , Trastornos del Desarrollo Sexual/cirugía , AdultoRESUMEN
BACKGROUND AND IMPORTANCE: "Ping-pong fractures" (PPF) can occur in neonates and result in cosmetic deformity and local mass effect. Standard treatment involves surgical elevation of the depressed bone when the indentation is considerable or cosmetically apparent. Surgical correction of PPF subjects patients to the risks of surgery and general anesthesia. This article and corresponding video demonstrate a novel means of correcting PPF at bedside without surgery or anesthesia. We used a hospital-grade breast pump connected to a custom-fabricated flange to successfully elevate PPF in two neonates. CLINICAL PRESENTATION: Two moderately preterm infants were noted at birth to have large parietal PPF. To avoid surgical intervention, elevation using a suction device was attempted. A hospital-grade breast pump was used to provide suction. A custom device was fabricated out of a breast pump flange and molded Coloplast Brava® protective seal rings. This device was carefully applied to the skull to exactly match the diameter of the PPF and contour of the bone. Brief (15-30 seconds) periods of suction were applied several times until the PPF was successfully elevated as documented on subsequent computed tomography scans. Both infants achieved excellent cosmetic results with no adverse effects over 24- and 9-month follow-ups, respectively. DISCUSSION: This technique eliminates the risks of open surgical correction and corrected the PPF without general anesthesia or adverse effects to the infant. While there may be limitations due to patient age and/or location of the PPF, the use of widely available and inexpensive custom-fitted materials with a hospital grade breast pump achieves maximal efficacy without requiring higher negative pressure suction application. CONCLUSION: Elevation of PPF can be safely achieved in some neonates using readily available equipment: a hospital-grade breast pump, flange, and moldable adherent material. This technique is reasonable to attempt in lieu of surgical elevation.
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BACKGROUND: In the last 15 years, the care provided for individuals born with differences of sex development (DSD) has evolved, with a strong emphasis on interdisciplinary approaches. However, these developments have not convinced some stakeholders to embrace the current model of care. This care model has also paid insufficient attention to socio-cultural differences and global inequalities. SUMMARY: This article is an opinion statement, resulting from in-depth discussions and reflection among clinicians, patients, and family support organizations based in the US and Europe, where we seek areas of common ground and try to identify opportunities to further develop resources. The product of these conversations is summarized in 10 panels. The corresponding sections provide additional discussion on some of the panel items. KEY MESSAGES: Participants identified areas of agreement and gained a deeper understanding of the reasons behind disagreements on certain matters and identified the necessary steps to foster future consensus. We offer preliminary recommendations for guiding clinical management and resource allocation. By promoting a broader consensus, we aim to enhance the quality of care and well-being for individuals of all ages who have a DSD.
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PURPOSE: Vascular anomalies are classified as either vascular tumors or vascular malformations. Vascular malformations can be difficult to diagnose and treat in the pediatric population and can masquerade as malignant processes. Understanding the genetics behind vascular malformations can lead to identification of specific mutations which can be treated with targeted immunotherapy. METHODS: Our case presents a pediatric patient with progressively enlarging vascular malformation despite multiple surgical resections and systemic medical treatments who underwent genetic evaluation and was found to have PIK3CA mutation. RESULTS: After identification of PIK3CA mutation, our patient was successfully treated with the p110É-specific inhibitor, alpelisib, with both shrinkage of malformation on follow-up imaging as well as gains in her developmental milestones. CONCLUSION: Progressive vascular malformations in the pediatric population can be hard to diagnose and treat and are thought to arise from somatic mutations. Our case highlights a patient with progressive malformation despite multiple surgical resections who was successfully treated with targeted immunotherapy after proper identification of genetic mutation.
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Malformaciones Vasculares , Neoplasias Vasculares , Humanos , Niño , Lactante , Femenino , Malformaciones Vasculares/diagnóstico , Malformaciones Vasculares/genética , Malformaciones Vasculares/patología , Mutación , Fosfatidilinositol 3-Quinasa Clase I/genéticaRESUMEN
Introduction: Advocacy and human rights organizations have called for a moratorium on elective surgical procedures until the patient is able to fully participate in the decision-making process. Due to the controversial nature surrounding surgery in differences of sex development (DSD) care, we aimed to assess the factors that teens and adults with DSD, parents, healthcare providers and other allied professionals consider pertinent to complex surgical decisions in DSD. Methods: Stakeholders (n=110) in DSD care participated in semi-structured interviews exploring features and potential determinants of successful healthcare outcomes. Audio-recordings were transcribed, coded, and analyzed using qualitative data software. Codes for "Process of Decision-Making" and "Successful Outcome-Surgery/Appearance/Function" were further searched using keywords "surgery," "procedure," and "timing." Results: Several themes were identified: 1) The nature or type of the decision being made; 2) Who should be involved in the decision-making process; 3) Timing of conversations about surgery; 4) Barriers to decision-making surrounding surgery; 5) The elements of surgical decision-making; and 6) The optimal approach to surgical decision-making. Many stakeholders believed children and adolescents with DSD should be involved in the process as developmentally appropriate. Conclusion: DSD include a wide range of diagnoses, some of which may require urogenital reconstruction to relieve obstruction, achieve continence, and/or address other anatomical differences whether cosmetic or functional. Adolescents and adults with DSD desired autonomy and to be part of the decision-making process. Parents were divided in their opinion of who should be involved in making elective surgical decisions: the child or parents as proxy medical decision-makers. Providers and other professionals stressed the importance of process and education around surgical decisions. Ongoing research examines how decision-makers evaluate tradeoffs associated with decision options.
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Introduction: Parents of infants and young children newly diagnosed with differences of sex development (DSD) commonly face medical and psychosocial management decisions at a time when they are first learning about the condition and cannot consult their child for input. The aim of this study was to identify areas of greatest need for parental decisional support. Methods: 34 parents of children receiving care for DSD at one of three US children's hospitals participated in a survey to learn what clinical and psychosocial decisions needed to be made on behalf of their child. Parents were then asked to identify and focus on a "tough" decision and respond to questions assessing factors affecting decision-making, decision-making preferences, decisional conflict, and decision regret. Descriptive analyses were conducted. Results: Decisions about surgery and aspects of sharing information about their child's condition with others were the two most frequently reported decisions overall, experienced by 97% and 88% of parents, as well as most frequently nominated as tough decisions. Many parents reported mild to moderate levels of decisional conflict (59%) and decision regret (74%). Almost all parents (94%) reported experiencing at least one factor as interfering with decision-making (e.g., "worried too much about choosing the 'wrong' option"). Parents universally reported a desire to be involved in decision-making - preferably making the final decision primarily on their own (79%), or together with their child's healthcare providers (21%). The majority of parents judged healthcare providers (82%) and patient/family organizations (58%) as trustworthy sources of information. Discussion: Parents of children with DSD encounter medical, surgical, and psychosocial management decisions. Despite difficulties including emotional distress and informational concerns (including gaps and overload), parents express strong desires to play key roles in decision-making on behalf of their children. Healthcare providers can help identify family-specific needs through observation and inquiry in the clinical context. Together with families, providers should focus on specific clinical management decisions and support parental involvement in making decisions on behalf of young children with DSD.
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Leptomeningeal metastasis (LM) occurs when cancer cells infiltrate the subarachnoid space (SAS) and metastasize to the fibrous structures that surround the brain and spinal cord. These structures include the leptomeninges (i.e., the pia mater and arachnoid mater), as well as subarachnoid trabeculae, which are collagen-rich fibers that provide mechanical structure for the SAS, support resident cells, and mediate flow of cerebrospinal fluid (CSF). Although there is a strong expectation that the presence of fibers within the SAS influences LM to be a major driver of tumor progression and lethality, exactly how trabecular architecture relates to the process of metastasis in cancer is poorly understood. This lack of understanding is likely due in part to the difficulty of accessing and manipulating this tissue compartment in vivo. Here, we utilized electrospun polycaprolactone (PCL) to produce structures bearing remarkable morphological similarity to native SAS fiber architecture. First, we profiled the native architecture of leptomeningeal and trabecular fibers collected from rhesus macaque monkeys, evaluating both qualitative and quantitative differences in fiber ultrastructure for various regions of the CNS. We then varied electrospinning parameters to produce a small library of PCL scaffolds possessing distinct architectures mimicking the range of fiber properties observed in vivo. For proof of concept, we studied the metastasis-related behaviors of human pediatric medulloblastoma cells cultured in different fiber microenvironments. These studies demonstrated that a more open, porous fiber structure facilitates DAOY cell spread across and infiltration into the meningeal mimic. Our results present a new tissue engineered model of the subarachnoid space and affirm the expectation that fiber architecture plays an important role in mediating metastasis-related behaviors in an in vitro model of pediatric medulloblastoma.
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Neoplasias Cerebelosas , Meduloblastoma , Animales , Niño , Humanos , Macaca mulatta , Espacio Subaracnoideo , Microambiente TumoralRESUMEN
Introduction: Parents and guardians of infants and young children with differences of sex development (DSD) often face numerous health and social decisions about their child's condition. While proxy health decisions can be stressful in any circumstance, they are further exacerbated in this clinical context by significant variations in clinical presentation, parental lack of knowledge about DSD, irreversibility of some options (e.g., gonadectomy), a paucity of research available about long-term outcomes, and anticipated decisional regret. This study aimed to engage clinicians, parents, and an adult living with DSD to collaboratively develop a suite of patient decision aids (PDAs) to respond to the decisional needs of parents and guardians of infants and young children diagnosed with DSD. Methods: We used a systematic co-development process guided by the Ottawa Decision Support Framework and the International Patient Decision Aids Standards (IPDAS). The five steps were: literature selection, establish the team, decisional needs assessment, create the PDAs, and alpha testing. Results: We developed four PDAs to support parents/guardians of infants or young children diagnosed with DSD about four priority decisions identified through our decisional needs assessment: genetic testing, gender of rearing, genital surgery and gonadal surgery. All four PDAs include information for parents about DSD, the options, reasons to choose or avoid each option, and opportunities for parents/guardians to rate the importance of features of each option to clarify their values for these features. Qualitative feedback was positive from clinicians, parents and an adult living with DSD. Conclusions: These PDAs are clinical tools designed to support parents/guardians and to promote making an informed and shared DSD-related decision. While these tools are specific to DSD, they contain themes and elements translatable to other pediatric populations.
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Central nervous system (CNS) tumors are the second most common in the pediatric age group, accounting for 3.5% of overall mortality. The 2021 World Health Organization (WHO) classification of pediatric CNS tumors has given insight into their molecular biology. Correct diagnosis of high-grade intracranial sarcomas is a well-known challenge because of their histopathological variation, presence of heterologous elements, and haphazard pattern of growth. We present a case of a 13-year-old female with a right-sided frontal hemorrhagic mass. Pathological work-up revealed an intra-cranial high-grade sarcoma, not otherwise specified (NOS). Despite receiving chemo-radiation, the lesion recurred after 9 months. This time, the sarcoma had evolved, showing distinct focal rhabdomyoblastic differentiation. Next-generation sequencing (NGS) based assay revealed variants p.E1705V, p.Y1417Ter in DICER1, and other mutations in KRAS and TP53 genes. The lesion was then diagnosed as spindle cell sarcoma with rhabdomyosarcoma-like features, DICER1 mutant. We propose that upfront molecular studies in pediatric undifferentiated high-grade sarcomas are indicated for precise diagnosis and classification.
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Rabdomiosarcoma , Sarcoma , Femenino , Humanos , Niño , Adolescente , Recurrencia Local de Neoplasia , Rabdomiosarcoma/diagnóstico , Rabdomiosarcoma/genética , Sarcoma/diagnóstico , Sarcoma/genética , Bioensayo , Diferenciación Celular , Ribonucleasa III , ARN Helicasas DEAD-boxRESUMEN
Craniosynostosis is a developmental craniofacial defect in which one or more sutures of the skull fuse together prematurely. Uncorrected craniosynostosis may have serious complications including elevated intracranial pressure, developmental delay, and blindness. Proper diagnosis of craniosynostosis requires a physical examination of the head with assessment for symmetry and palpation of sutures for prominence. Often, if craniosynostosis is suspected, computed tomography (CT) imaging will be obtained. Recent literature has posited that this is unnecessary. This study aims to address whether physical examination alone is sufficient for the diagnosis and treatment planning of single suture craniosynostosis. Between 2015 and 2022, the Divisions of Pediatric Neurosurgery and Pediatric Plastic Surgery at UTHealth Houston evaluated 140 children under 36 months of age with suspected craniosynostosis by physical examination and subsequently ordered CT imaging for preoperative planning. Twenty-three patients received a clinical diagnosis of multi-sutural or syndromic craniosynostosis that was confirmed by CT. One hundred seventeen patients were diagnosed with single suture craniosynostosis on clinical examination and follow-up CT confirmed suture fusion in 109 (93.2%) patients and identified intracranial anomalies in 7 (6.0%) patients. These patients underwent surgical correction. Eight (6.8%) patients showed no evidence of craniosynostosis on CT imaging. Treatment for patients without fused sutures included molding helmets and observation alone. This evidence suggests that physical examination alone may be inadequate to accurately diagnose single suture synostosis, and surgery without preoperative CT evaluation could lead to unindicated procedures.
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Craneosinostosis , Humanos , Niño , Lactante , Estudios Retrospectivos , Craneosinostosis/diagnóstico por imagen , Craneosinostosis/cirugía , Cráneo/cirugía , Examen Físico , Procedimientos Neuroquirúrgicos , Suturas Craneales/diagnóstico por imagen , Suturas Craneales/cirugía , Suturas Craneales/anomalíasRESUMEN
OBJECTIVE: Secrecy about a child's difference of sex development (DSD) can lead to internalized shame and stigma. We explored how teenagers and adults with DSD, parents, healthcare providers, and allied professionals value and perceive patient education. METHODS: Stakeholders (n = 110) completed qualitative semi-structured interviews. Relevant themes for educational content were queried and organized. RESULTS: Education was consistently identified as essential to successful outcomes. There was less consistency in how to educate patients. Disagreement existed regarding who should champion the education process. Participants believed medically relevant information should be shared gradually with attention to developmental capacity. Details were lacking regarding how much or what information to share. Participants noted that vetted resources were helpful. Benefits of sharing condition-specific information with patients included supporting their psychosocial development. Barriers included parental resistance to sharing information due to shame/stigma, and cultural and/or family dynamics. CONCLUSIONS: Stakeholders' different perspectives regarding patient DSD education warrant future research to focus on the design, evaluation, and implementation of education-focused interventions. PRACTICE IMPLICATIONS: Healthcare providers are responsible for supporting the education of children and teenagers with DSD about their condition. When considering barriers, adopting a cultural or family systems framework can reduce parental resistance and promote open dialogue.
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Personal de Salud , Padres , Adulto , Humanos , Niño , Adolescente , Padres/psicología , Personal de Salud/psicología , Escolaridad , Vergüenza , Desarrollo SexualRESUMEN
Background: Medulloblastoma in adults is rare and treatment decisions are largely driven from pediatric literature. We sought to characterize recurrent medulloblastoma in adults. Methods: From a single-institution dataset of 200 adult patients diagnosed with medulloblastoma during 1978-2017, those with recurrence were analyzed for clinical features, treatment, and outcome. Results: Of the 200 patients, 82 (41%) with median age of 29 years (18-59) had recurrence after a median follow-up time of 8.4 years (95% CI = 7.1, 10.3). Of these, 30 (37%) were standard-risk, 31 (38%) were high-risk, and 21 (26%) had unknown-risk diseases at the time of initial diagnosis. Forty-eight (58%) presented with recurrence outside the posterior fossa, of whom 35 (43%) had distant recurrence only. Median Progression-free survival (PFS) and OS from initial surgery were 33.5 and 62.4 months, respectively. Neither PFS nor OS from initial diagnosis differed between the standard-risk and high-risk groups in those who experience recurrence (P = .505 and .463, respectively). Median OS from first recurrence was 20.3 months, also with no difference between the standard-risk and high-risk groups (P = .518). Recurrences were treated with combinations of re-resection (20 patients; 25%), systemic chemotherapy (61 patients; 76%), radiation (29 patients; 36%), stem cell transplant (6 patients; 8%), and intrathecal chemotherapy (4 patients; 5%). Patients who received radiation at recurrence had better OS (32.9 months) than those who did not (19.2 months) (P = .034). Conclusions: Recurrent medulloblastoma in adults has a poor prognosis irrespective of initial risk stratification. Recurrence commonly arises outside the posterior fossa years after initial diagnosis.