Early development and adaptive functioning in children with Bardet-Biedl syndrome.

This study had two aims. Aim one investigated achievement of 10 developmental milestones in children with Bardet-Biedl syndrome (BBS). Aim one data were derived from retrospective responses by caregivers of individuals with BBS who are enrolled in the Clinical Registry Investigating Bardet-Biedl syndrome (CRIBBS). CRIBBS is a natural history registry acquiring serial observations. Aim two investigated early adaptive skills using the Adaptive Behavior Assessment System (ABAS-II 0-5) completed by caregivers of children with BBS aged from 0 to 5. There were 652 individuals with milestone information (with some variability based on availability of information for specific milestones), and 101 individuals (including 95 among the 652) with ABAS-II information. Results revealed wide-ranging delays in adaptive skills, particularly in the domain of Self-Care. Expressive language appears to be the most frequently delayed developmental milestone. We found a difference by BBS genotype wherein individuals with BBS1 had higher adaptive/developmental scores than individuals with BBS10. Age also carried a significant association with adaptive skills diverging farther from a normative trajectory as children with BBS progress through early childhood.

Attainment and loss of early social-communication skills across neurodevelopmental conditions in the Norwegian Mother, Father and Child Cohort Study.

BACKGROUND: Delays and loss of early-emerging social-communication skills are often discussed as unique to autism. However, most studies of regression have relied on retrospective recall and clinical samples. Here, we examine attainment and loss of social-communication skills in the population-based Norwegian Mother, Father and Child Cohort Study (MoBa). METHODS: Mothers rated their child's attainment of 10 early-emerging social-communication skills at ages 18 and 36 months (N = 40,613, 50.9% male). Prospectively reported loss was defined as skill presence at 18 months but absence at 36 months. At 36 months, mothers also recalled whether the child had lost social-communication skills. The Norwegian Patient Registry was used to capture diagnoses of Autism Spectrum Disorder (autism) and other neurodevelopmental disabilities (NDDs). RESULTS: Delay in at least one skill was observed in 14% of the sample and loss in 5.4%. Recalled loss of social-communication skills was rare (0.86%) and showed low convergence with prospectively reported loss. Delay and especially loss were associated with elevated odds of an autism diagnosis (n = 383) versus no autism diagnosis (n = 40,230; ≥3 skills delayed: OR = 7.09[4.15,12.11]; ≥3 skills lost: OR = 30.66[17.30,54.33]). They were also associated with an increased likelihood of autism compared to some other NDDs. Delay (relative risk [RR] = 4.16[2.08, 8.33]) and loss (RR = 10.00[3.70, 25.00]) associated with increased likelihood of autism versus ADHD, and loss (RR = 4.35[1.28,14.29]), but not delay (RR = 2.00[0.78,5.26]), associated with increased likelihood of autism compared to language disability. Conversely, delay conferred decreased likelihood of autism versus intellectual disability (RR = 0.11[0.06,0.21]), and loss was not reliably associated with likelihood of autism versus intellectual disability (RR = 1.89[0.44,8.33]). CONCLUSIONS: This population-based study suggests that loss of early social communication skills is more common than studies using retrospective reports have indicated and is observed across several NDD diagnoses (not just autism). Nevertheless, most children with NDD diagnoses showed no reported delay or loss in these prospectively measured skills.

Genetic confounding in the association of early motor development with childhood and adolescent exercise behavior.

INTRODUCTION: Early motor development has been found to be a predictor of exercise behavior in children and adolescents, but whether this reflects a causal effect or confounding by genetic or shared environmental factors remains to be established. METHODS: For 20,911 complete twin pairs from the Netherlands Twin Register a motor development score was obtained from maternal reports on the timing of five motor milestones. During a 12-year follow-up, subsamples of the mothers reported on the twins' ability to perform seven gross motor skills ability (N = 17,189 pairs), and weekly minutes of total metabolic equivalents of task (MET) spent on sports and exercise activities at age 7 (N = 3632 pairs), age 10 (N = 3735 pairs), age 12 (N = 7043 pairs), and age 14 (N = 3990 pairs). Multivariate phenotypic and genetic regression analyses were used to establish the predictive strength of the two motor development traits for future exercise behavior, the contribution of genetic and shared environmental factors to the variance in all traits, and the contribution of familial confounding to the phenotypic prediction. RESULTS: Significant heritability (h2) and shared environmental (c2) effects were found for early motor development in boys and girls (h2 = 43-65%; c2 = 16-48%). For exercise behavior, genetic influences increased with age (boys: h2age7 = 22% to h2age14 = 51%; girls: h2age7 = 3% to h2age14 = 18%) paired to a parallel decrease in the influence of the shared environment (boys: c2age7 = 68% to c2age14 = 19%; girls: c2age7 = 80% to c2age14 = 48%). Early motor development explained 4.3% (p < 0.001) of the variance in future exercise behavior in boys but only 1.9% (p < 0.001) in girls. If the effect in boys was due to a causal effect of motor development on exercise behavior, all of the factors influencing motor development would, through the causal chain, also influence future exercise behavior. Instead, only the genetic parts of the regression of exercise behavior on motor development were significant. Shared and unique environmental parts of the regression were largely non-significant, which is at odds with the causal hypothesis. CONCLUSION: No support was found for a direct causal effect in the association between rapid early motor development on future exercise behavior. In boys, early motor development appears to be an expression of the same genetic factors that underlie the heritability of childhood and early adolescent exercise behavior.

The Enneagram as a Tool for Resident Wellness and Correlation With Accreditation Council for Graduate Medical Education Milestone Achievements.

INTRODUCTION: The Enneagram is an ancient personality typing system developed to improve self-knowledge. Broken down into nine personality types, each is driven by a core motivating factor. Other personality assessments have been used to study the personality profile of surgeons. The purpose of this study is to evaluate the variability in Enneagram type among a single institution's general surgery residents. METHODS: All categorical general surgery residents at a single institution completed an online Enneagram assessment as part of a wellness initiative. Accreditation Council for Graduate Medical Education milestone levels for professionalism (PRO) and interpersonal and communication skills were collected for each resident's intern year. Milestone levels were compared between the nine Enneagram types. RESULTS: All nine Enneagram types were represented among surveyed residents. The most frequent Enneagram type was type 3 (20.69%). There was no significant difference between PRO (P = 0.322) and interpersonal and communication skills (P = 0.645) scores among residents distributed by Enneagram type. CONCLUSIONS: Regardless of core Enneagram type, general surgery residents in this study all achieved appropriate Accreditation Council for Graduate Medical Education milestone levels for entry level of training. The Enneagram can provide self-awareness and understanding of resident differences but does not impact initial assessment of competency in PRO and interpersonal communication skills.

Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.

5q-associated spinal muscular atrophy is a rare neuromuscular disorder with the leading symptom of a proximal muscle weakness. Three different drugs have been approved by the European Medicines Agency and Food and Drug Administration for the treatment of spinal muscular atrophy patients, however, long-term experience is still scarce. In contrast to clinical trial data with restricted patient populations and short observation periods, we report here real-world evidence on a broad spectrum of patients with early-onset spinal muscular atrophy treated with nusinersen focusing on effects regarding motor milestones, and respiratory and bulbar insufficiency during the first years of treatment. Within the SMArtCARE registry, all patients under treatment with nusinersen who never had the ability to sit independently before the start of treatment were identified for data analysis. The primary outcome of this analysis was the change in motor function evaluated with the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders and motor milestones considering World Health Organization criteria. Further, we evaluated data on the need for ventilator support and tube feeding, and mortality. In total, 143 patients with early-onset spinal muscular atrophy were included in the data analysis with a follow-up period of up to 38 months. We observed major improvements in motor function evaluated with the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders. Improvements were greater in children >2 years of age at start of treatment than in older children. 24.5% of children gained the ability to sit independently. Major improvements were observed during the first 14 months of treatment. The need for intermittent ventilator support and tube feeding increased despite treatment with nusinersen. Our findings confirm the increasing real-world evidence that treatment with nusinersen has a dramatic influence on disease progression and survival in patients with early-onset spinal muscular atrophy. Major improvements in motor function are seen in children younger than 2 years at the start of treatment. Bulbar and respiratory function needs to be closely monitored, as these functions do not improve equivalent to motor function.

Hypotensive episodes at 24-h ambulatory blood pressure monitoring predict adverse outcomes in Parkinson's disease.

PURPOSE: Neurogenic orthostatic hypotension (nOH) is a frequent nonmotor feature of Parkinson's disease (PD), associated with adverse outcomes. Recently, 24-h ambulatory blood pressure monitoring (ABPM) showed good accuracy in diagnosing nOH. This study aims at evaluating the prognostic role of ABPM-hypotensive episodes in predicting PD disability milestones and mortality and comparing it to the well-defined prognostic role of bedside nOH. METHODS: Patients with PD who underwent ABPM from January 2012 to December 2014 were retrospectively enrolled and assessed for the development of falls, fractures, dementia, bed/wheelchair confinement, hospitalization, and mortality, during an up-to-10-year follow-up. Significant ABPM-hypotensive episodes were identified when greater than or equal to two episodes of systolic BP drop ≥ 15 mmHg (compared with the average 24 h) were recorded during the awakening-to-lunch period. RESULTS: A total of 99 patients (74% male, age 64.0 ± 10.1 years, and PD duration 6.4 ± 4.0 years) were enrolled. At baseline, 38.4% of patients had ABPM-hypotensive episodes and 46.5% had bedside nOH. On Kaplan-Meier analysis, patients with ABPM-hypotensive episodes showed earlier onset of falls (p = 0.001), fractures (p = 0.004), hospitalizations (p = 0.009), bed/wheelchair confinement (p = 0.032), dementia (p = 0.001), and shorter survival (8.0 versus 9.5 years; p = 0.009). At Cox regression analysis (adjusted for age, disease duration, Charlson Comorbidity Index, and Hoehn and Yahr stage) a significant association was confirmed between ABPM-hypotensive episodes and falls [odds ratio (OR) 3.626; p = 0.001), hospitalizations (OR 2.016; p = 0.038), and dementia (OR 2.926; p = 0.008), while bedside nOH was only associated with falls (OR 2.022; p = 0.039) and dementia (OR 1.908; p = 0.048). CONCLUSIONS: The presence of at least two ABPM-hypotensive episodes independently predicted the development of falls, dementia, and hospitalization, showing a stronger prognostic value than the simple bedside assessment.

Identifying Gaps in Pelvic Pain Education: A Scoping Review and Structured Analysis of Obstetrics and Gynecology Training Milestones.

OBJECTIVE: Several clinical practice guidelines on the evaluation and management (EM) of chronic pelvic pain (CPP) have been published; however, it is not known whether obstetrics and gynecology (OBGYN) educational milestones are aligned with current practice recommendations. Therefore, this scoping review and structured analysis aims to identify gaps between clinical guidelines for the EM of CPP and OBGYN training milestones published by educational authorities like the Accreditation Council for Graduate Medical Education (ACGME) and the AAGL. DATA SOURCES: The literature search was performed in MEDLINE, PubMed Central, and Bookshelf on the PubMed interface from January 2018 to September 2022. Peer-reviewed publications were included if they were a systematic review of recent practice guidelines and focused on female CPP. Publications that focused on a single pelvic pain condition or focused on a specific treatment were excluded. METHODS OF STUDY SELECTION: Two reviewers extracted the data and appraised the study quality following the Critical Appraisal Skills Programme Checklist for systematic reviews. Four articles met inclusion criteria for thematic analysis. A reflexive thematic analysis via the inductive approach was performed to develop clinical themes common to all review articles and presumed important in the EM of CPP. Pelvic pain experts and Delphi methodology was used to assess validity and relevance of each theme in OBGYN training. Validated themes were used in a strengths weaknesses opportunities threats (SWOT) analysis of the ACGME and the AAGL Milestones used for training OBGYN residents and fellows. A SWOT analysis is an organizational tool used to analyze processes in terms of strengths, weaknesses, opportunities for improvement, and threats to implementing a potential change. TABULATION, INTEGRATION, AND RESULTS: Twelve clinical themes were conceptualized and achieved ≥ 90% consensus as being important in the EM of CPP. Clinical themes pertained to pathophysiology, biopsychosocial approach, trauma-informed care, history and physical examination, diagnostic testing, multimodal/multidisciplinary management, pain education, and medical and surgical management. SWOT analysis showed that the ACGME Milestones lacked milestones specific to CPP, while the AAGL Milestones had 6 CPP-focused competencies with multiple milestones. Milestones on trauma-informed care and application of biopsychosocial assessment were notably absent. CONCLUSION: OBGYN educational milestones published by the ACGME and the AAGL are not yet aligned with current clinical guidelines for the EM of CPP.

Knowledge, attitude, and practices of parents regarding the red flags of developmental milestones in children aged 0-5 years in Karachi, Pakistan: a cross-sectional study.

BACKGROUND: Developmental delays in children are assessed in four basic domains: gross motor, fine motor, social, and language. Early years of life are crucial in a child's development, so it is imperative that parents be aware of developmental milestones to facilitate early diagnosis and treatment in case of a developmental delay. This study assessed parental knowledge, attitude, and practices regarding children's developmental milestones and associated "red flags". METHODS: A cross-sectional study was conducted at the Department of Pediatrics at Liaquat National Hospital, Karachi. 390 parents, who had at least one child under 5 years of age, with no diagnosed developmental delay, were interviewed during outpatient clinic visits. The questionnaire consisted of three components to assess parental knowledge, attitude, and practices. RESULTS: 59% and 54% of parents had poor knowledge of gross and fine motor milestones respectively; In the social domain, 56% of the respondents had inadequate knowledge. 42% had inadequate knowledge of language milestones; 29% of parents strongly agreed that their pediatricians provide satisfactory information regarding red flags of developmental milestones. 60% of parents strongly agreed that their child's developmental delay would be a cause of concern for them. In the case of developmental delay, 55% of parents said they would consult a general pediatrician, 11% preferred a pediatric neurologist, 21% opted for a developmental pediatrician and 13% opted for a family physician. Residence and family systems were found to be associated with language-related milestones with significantly higher odds of knowledge among urban residents than rural ones and a significantly lower likelihood of language milestones knowledge among joint families than nuclear families. Female gender was found to be significantly associated with positive attitude. CONCLUSION: The majority of our respondents showed considerably poor knowledge regarding developmental milestones. This highlights the need to devise ways to educate parents on this subject to enable them to vigilantly monitor their child's developmental status and any associated abnormalities and ultimately facilitate the right course of action.

Using ACGME milestones as a formative assessment for the internal medicine clerkship: a consecutive two-year outcome and follow-up after graduation.

BACKGROUND: This study evaluated the utility of using Accreditation Council for Graduate Medical Education (ACGME) Milestones as a formative assessment tool for the fifth- and sixth-grade medical students' performance in their internal medicine (IM) clerkship and the same students' performance in their post-graduate year (PGY) IM training. METHODS: Retrospective data were collected from 65 medical students completing the two-year IM clerkship in the academic years 2019 and 2020 and 26 of the above students completing their PGY-1 training at the same university hospital in the academic year 2021. Data included the assessment results of 7 of the ACGME IM Milestones, information on admitted patients assigned to the students, and surveys of the students' satisfaction. RESULTS: The analysis included 390 assessment results during the IM clerkship and 78 assessment results during the PGY-1 training. Clinical teachers commonly rated level 3 to medical students in the IM clerkship, with PC-2 subcompetency receiving the lowest rating among seven subcompetencies. The levels of most subcompetencies showed stationary in the two-year IM clerkship. Significant improvement was observed in all subcompetencies during the PGY-1 training. The medical students in the second-year IM clerkship expressed higher satisfaction with implementing Milestones than in their first-year IM clerkship and perceived Milestones assessments' usefulness as learning feedback. CONCLUSIONS: Using ACGME Milestones as a formative assessment tool in the IM clerkship yielded promising outcomes. Longitudinal follow-up of subcompetencies facilitated tracking students' development and providing constructive feedback.

Development of an integrated milestone assessment tool across multiple early-adopter programs for breaking bad news: a pilot project.

BACKGROUND: The transition of the Accreditation Council for Graduate Medical Education (ACGME) to milestone assessment creates opportunities for collaboration and shared assessments across graduate medical programs. Breaking bad news is an essential communication skill that is a common milestone across almost every medical specialty. The purpose of this study was to develop and pilot an integrated milestone assessment (IMA) tool for breaking bad news using ACGME milestone criteria and to compare the IMA tool with the existing SPIKES protocol. METHODS: The IMA tool was created using sub-anchors in professionalism and interpersonal communication skills that are applicable to every specialty and to the ability to break bad news. Two cases of breaking bad news, designed to be "easy" and "intermediate" in difficulty, were used to assess basic skills in breaking bad news in first-year medical residents from six residency specialties. Eight standardized patients were trained to portray the cases in sessions held in November 2013 and May 2014. Standardized patients completed an assessment checklist to evaluate each resident's performance in breaking bad news based on their use of the SPIKES protocol and IMA tool. Residents answered post-encounter questions about their training and comfort in breaking bad news. The association between SPIKES and IMA scores was investigated by simple linear regression models and Spearman rank correlations. RESULTS: There were 136 eligible medical residents: 108 (79.4%) participated in the first session and 97 (71.3%) participated in the second session, with 96 (70.6%) residents participating in both sessions. Overall, we were able to identify residents that performed at both extremes of the assessment criteria using the integrated milestone assessment (IMA) and the SPIKES protocol. Interestingly, residents rated themselves below "comfortable" on average. CONCLUSION: We developed an integrated milestone assessment (IMA) that was better than the SPIKES protocol at assessing the skill of breaking bad news. This collaborative assessment tool can be used as supplement tool in the era of milestone transformation. We aim assess our tool in other specialties and institutions, as well as assess other shared milestones across specialties.

A Visual and Narrative Timeline Review of Spinal Cord Stimulation Technology and US Food and Drug Administration Milestones.

OBJECTIVES: The aim of this study was to present key technologic and regulatory milestones in spinal cord stimulation (SCS) for managing chronic pain on a narrative timeline with visual representation, relying on original sources to the extent possible. MATERIALS AND METHODS: We identified technical advances in SCS that facilitated and enhanced treatment on the basis of scientific publications and approvals from the United States (US) Food and Drug Administration (FDA). We presented milestones limited to first use in key indications and in the context of new technology validation. We focused primarily on pain management, but other indications (eg, motor disorder in multiple sclerosis) were included when they affected technology development. RESULTS: We developed a comprehensive visual and narrative timeline of SCS technology and US FDA milestones. Since its conception in the 1960s, the science and technology of SCS neuromodulation have continuously evolved. Advances span lead design (from paddle-type to percutaneous, and increased electrode contacts) and stimulator technology (from wireless power to internally powered and rechargeable, with miniaturized components, and programmable multichannel devices), with expanding stimulation program flexibility (such as burst and kilohertz stimulation frequencies), as well as usage features (such as remote programming and magnetic resonance imaging conditional compatibility). CONCLUSIONS: This timeline represents the evolution of SCS technology alongside expanding FDA-approved indications for use.

Maternal postnatal depressive symptoms and early achievement of developmental milestones in infants and young children: A meta-analysis.

Screening for social determinants of health, including maternal depression, is a recommended pediatric practice. However, the magnitude of association between maternal and child screening tools remains to be determined. The current study evaluated the association between maternal postnatal depressive symptoms and child developmental milestones, as well as moderators of these associations. A comprehensive search strategy was carried out in four databases (MEDLINE, EMBASE, APA PsycINFO, and Cochrane Central Register of Controlled Trials) from database inception to September 2022. Studies that examine postnatal depressive symptoms and associations with infant and early child (<6 years) achievement of developmental milestones were included. Data were extracted by two independent coders and a random-effects meta-analysis was used to estimate pooled effect sizes and test for moderators. A total of 38 non-overlapping studies (95,897 participants), all focused on maternal postnatal depression, met inclusion criteria. The pooled effect size for the association between postnatal depressive symptoms and early achievement of infant and child developmental milestones (N = 38; r = -.12; 95% CI = -.18, -.06) was small in magnitude. Child age at maternal depression measurement was a moderator, whereby effect sizes became greater for older children. Despite small effects, maternal postnatal depressive symptoms should be included in screening during routine well-child visits to enhance child development outcomes.

El examinar los determinantes sociales de la salud, incluyendo la depresión materna, es una práctica pediátrica recomendada. Sin embargo, la magnitud de la asociación entre las herramientas de examinación materna y del niño está por ser determinada. El presente estudio evaluó la asociación entre los síntomas depresivos postnatales maternos y los momentos cruciales en el desarrollo del niño, así como su papel de moderadores de estas asociaciones. Una estrategia de investigación comprensiva se llevó a cabo en cuatro bancos de datos (MEDLINE, EMBASE, APA PsycINFO, y el Registro Central Cochrane para Ensayos Controlados) desde el inicio del banco de datos hasta septiembre de 2022. Se incluyeron los estudios que examinan los síntomas depresivos postnatales y sus asociaciones con el alcance de logros de momentos cruciales del infante y del niño en su temprana niñez (<6 años). Se extrajeron los datos por medio de dos independientes codificadores y se usó un metaanálisis de efectos al azar para estimar los tamaños de efectos agrupados y examinarlos como moderadores. Un total de 38 estudios que no compartían la misma información (95,897 participantes), todos enfocados en la depresión materna postnatal, reunieron los criterios para ser incluidos. El tamaño de los efectos agrupados para la asociación entre los síntomas depresivos postnatales y el logro temprano de los momentos cruciales del infante y el niño (N = 38; r = -.12; 95% CI = -.18, -.06) fue pequeño en magnitud. La edad del niño en la medida de la depresión materna fue un moderador, por lo cual los tamaños de los efectos se hicieron mayores para los niños de mayor edad. A pesar de los pequeños efectos, los síntomas depresivos postnatales maternos deben ser incluidos en la examinación durante las visitas rutinarias de chequeos del bienestar del niño para mejorar los resultados del desarrollo del niño.

Le dépistage de déterminants sociaux de la santé, y compris la dépression maternelle, est une pratique pédiatrique recommandée. Cependant la magnitude du lien entre les outils de dépistage maternelle et de l'enfant reste indéterminée. Cette étude a évalué le lien entre les symptômes dépressifs postnatals maternels et les jalons du développement de l'enfant, ainsi que les modérateurs de ces liens. Une stratégie de recherche exhaustive a été adoptée pour quatre bases de données (MEDLINE, EMBASE, APA PsycINFO, et Cochrane Central Register of Controlled Trials) des débuts de la base de données jusqu'à septembre 2022. Les études examinant les symptômes dépressifs postnatals et les liens avec l'atteinte des jalons de développement du nourrisson et du petit enfant (<6 ans) ont été inclues. Les données ont été extraites par deux codeurs et une méta-analyse à effets aléatoires a été utilisée afin d'estimer les tailles et tests d'effet regroupées pour les modérateurs. Un total de 38 études ne se recoupant pas (95897 participantes), toutes focalisées sur la dépression maternelle postnatale, ont rempli les critères d'inclusion. La taille d'effet regroupé pour le lien entre les symptômes dépressifs postnatales et l'atteinte précoce des jalons de développement du nourrisson et de l'enfant (N = 38; r = -,12; 95% CI = -,18, -,06) était petite en magnitude. L'âge de l'enfant à la mesure de la dépression maternelle était un modérateur, où l'ampleur de l'effet était plus grande pour les enfants plus âgés. En dépit du peu d'ampleur les symptômes dépressifs postnatals maternels devraient être inclus dans le dépistage durant les visites de routine de santé de l'enfant afin d'améliorer les résultats sur le développement de l'enfant.

New ACGME Clinician Educator Milestones as a Roadmap for Faculty Development: a Position Paper from the Society of General Internal Medicine Education Committee.

Traditionally, clinician educators are tasked with the responsibility of training future physician workforce. However, there is limited identification of skills required to fulfill this responsibility and a lack of consensus on effective faculty development for career growth as a clinician educator. The newly released Accreditation Council of Graduate Medical Education (ACGME) Clinician Educator (CE) Milestones framework outlines important skills for clinician educators and provides the opportunity to create robust faculty development. In this paper, members of the Society of General Internal Medicine Education Committee discuss the importance of these CE Milestones, outline the novel themes highlighted in the project, and provide recommendations for proper application on both the individual and institutional levels to optimize faculty development. The paper discusses strategies for how to apply the CE Milestones as a tool to create a culture of professional growth and self-directed learning. Using a reflective approach, CE faculty and mentors can identify areas of proficiency and opportunities for growth, thereby creating individualized professional development plans for career success. Institutions should use aggregate CE Milestones data as a needs assessment of their faculty "population" to create targeted faculty development. Most importantly, institutions should not use CE Milestones for high-stakes assessments but rather encourage reflection by CE faculty and create subsequent robust faculty development programs. The ACGME CE Milestones present an exciting opportunity and lay an important foundation for future CE faculty development.

Introducing protein deamidation: Landmark discoveries, societal outreach, and tentative priming workflow to address deamidation.

Our current knowledge on protein deamidation results from a journey that started almost 100 years ago, when a handful of researchers first described the non-enzymatic "desamidation" of glutamine, and the effect of different anions on the catalytic rate of the reaction. Since then, the field has tremendously expended and now finds outreach in very diverse areas. In light of all the recent articles published in these areas, it seemed timely to propose an integrated review on the subject, including a short historical overview of the landmark discoveries in the field, highlighting the current global positioning of protein deamidation in biology and non-biology fields, and concluding with a workflow for those asking if a protein can deamidate, and identify the residues involved. This review is essentially intended to provide newcomers in the field with an overview of how deamidation has penetrated our society and what tools are currently at hand to identify and quantify protein deamidation.

Pain Medicine Milestones 2.0: a step into the future.

OBJECTIVE: To describe the process of revising the Pain Medicine Milestones 1.0 and implementing changes into the Pain Medicine Milestones 2.0 along with implications for pain medicine trainees. BACKGROUND: Competency-based medical education has been implemented in graduate medical education, including pain medicine. Milestones 1.0, introduced by the Accreditation Council for Graduate Medical Education (ACGME), has been used to assess learners in six competencies and respective sub-competencies. Recognizing areas for improvement in Milestones 1.0, the ACGME initiated the process of Milestones 2.0 and a working group was created to execute this task for pain medicine. The working group discussed revisions; consensus was sought when changes were introduced. Final milestones were agreed upon and made available for public comment prior to publication. RESULTS: Redundant sub-competencies were either merged or eliminated, reducing the number of sub-competencies. A maximum of three rows representing skill, knowledge, behavior and attitude were included for each sub-competency. Harmonized Milestones, aligning with other specialties in a predetermined ACGME framework, were adopted and modified to meet the needs of pain medicine. A supplemental guide was developed to assist educators in implementation of Milestones 2.0 and assessment of trainees. CONCLUSIONS: The intent of the Milestones 2.0 was to create an improved tool that is comprehensive, easier to utilize, and of increased value for pain medicine training programs. It is expected that implementation of Milestones 2.0 will streamline pain medicine trainee assessments by educators and prepare trainees for the future practice of pain medicine while serving to be the foundation of an iterative process to match the evolution of the specialty.

Nutritional rickets presenting with developmental regression: a rare presentation of rickets.

Rickets is a disorder of defective mineralisation of the growth plate. Vitamin D deficiency remains the leading cause of nutritional rickets worldwide.We present the case of a 3.5-year-old breastfed boy who presented with dental abscess when a history of developmental regression was noted. Clinical assessment revealed hypotonia, poor growth and stunting. Biochemistry identified hypocalcaemia (1.63mmol/L, [normal range (NR) 2.2-2.7mmol/L]), severe vitamin D deficiency (25hydroxyvitamin D 5.3nmol/L, [NR > 50nmol/L]) with secondary hyperparathyroidism (Parathormone 159pmol/L, [NR 1.6-7.5pmol/L]) and rickets on radiographs. Growth failure screening suggested hypopituitarism with central hypothyroidism and low IGF1 at baseline, however, dynamic tests confirmed normal axis. Management included nasogastric nutritional rehabilitation, cholecalciferol and calcium supplementation and physiotherapy. A good biochemical response in all parameters was observed within 3 weeks and reversal of developmental regression by 3 months from treatment. Developmental regression as a presentation of nutritional rickets is rare and requires a high index of suspicion.

Screening and determinant of suspected developmental delays among Egyptian preschool-aged children: a cross-sectional national community-based study.

BACKGROUND: Early childhood life is critical for optimal development and is the foundation of future well-being. Genetic, sociocultural, and environmental factors are important determinants of child development. AIM: The objectives were to screen for suspected developmental delays (DDs) among Egyptian preschool children, and to explore the determinants of these delays based on sociodemographic, epidemiological, maternal, and child perinatal risk factors. METHODS: A national Egyptian cross-sectional developmental screening of a representative sample of preschool children (21,316 children) aged 12 to 71 months. The Revised Denver Prescreening Developmental Questionnaire (R-PDQ) followed by the Denver Developmental Screening Test, 2nd edition (DDST) was used. RESULTS: Each screened child manifested at least one of six developmental categories. Either typical development, gross motor delay (GM), fine motor adaptive delay (FMA), Language delay (L), Personal-social delay (PS), or multiple DDs. The prevalence of preschool children with at least one DD was 6.4%, while 4.5% had multiple DDs. Developmental language delay was the most prevalent, affecting 4.2% of children. The least affected domain was GM (1.9% of children). Boys were more likely to have DD than girls. Children in urban communities were more likely to have at least one DD than those in rural areas (OR = 1.28, 95%CI: 1.14-1.42), and children of middle social class than of low or high social class (OR = 1.49, 95%CI: 1.30-1.70 & OR = 1.40, 95%CI: 1.23-1.59 respectively). The strong perinatal predictors for at least one DD were children with a history of postnatal convulsions (OR = 2.68, 95%CI: 1.97-3.64), low birth weight (OR = 2.06, 95%CI: 1.69-2.52), or history of postnatal cyanosis (OR = 1.77, 95%CI: 1.26-2.49) and mothers had any health problem during pregnancy (OR = 1.73, 95%CI: 1.44-2.07). Higher paternal and maternal education decreased the odds of having any DD by 43% (OR = 0.57, 95% CI: 0.47-0.68) and 31% (OR = 0.69, 95%CI: 0.58-0.82) respectively. CONCLUSION: This study demonstrates a considerable attempt to assess the types and the prevalence of DD among preschool children in Egypt. Perinatal factors are among the most common determinants of DD in preschool children and the majority could be preventable risk factors.

Key developmental milestones helped to identify children with special educational needs and disabilities at an early stage.

AIM: Responding to developmental delay promptly is important, as it helps children to reach their full potential. This study investigated how developmental milestones predicted primary school children with special educational needs and disabilities (SEND) at an early stage. METHODS: We obtained data about 36 milestones between 12 and 45 months using the Dutch Development Instrument. Development, primary school classification and background characteristics were collected from the Dutch Preventive Child Healthcare system in Utrecht from 2008 to 2016. We investigated SEND classifications and the primary schools that the children attended at 4-12 years of age. The findings include area under the curve (AUC) data. RESULTS: Data on 30 579 children in mainstream schools and 1055 children with SEND were available. Different milestones predicted SEND classifications. Fourteen milestones and parental education predicted attendance at special needs schools with smaller classes (AUC 0.913). Nine milestones, sex, migration background and parental education predicted attendance at schools for severe communication problems (AUC 0.963). Ten milestones and parental education predicted attendance at schools for severe learning difficulties (AUC 0.995). Milestones did not accurately predict attendance at schools for severe behavioural or psychiatric problems. CONCLUSION: Milestones at 12-45 months predicted most SEND classifications at primary school age, except severe behavioural or psychiatric problems.

Acquisition of cognitive and communication milestones in infants with Down syndrome.

BACKGROUND: Understanding the timing of developmental milestones in typical and clinical populations facilitates intervention planning and the early detection of risk for co-occurring conditions. Normative timing of developmental milestone achievement has been established for typically developing children. However, there is little information regarding the timing of cognitive and communication skill acquisition in young children with Down syndrome (DS). The objectives of this study are to (1) provide foundational information regarding the timing of cognitive and communication skill acquisition in infants with DS and (2) facilitate the early identification of infants with risk for co-occurring conditions. METHOD: Seventy-four infants with DS (age range: 4-18 months) completed the Bayley Scales of Infant Development-III (Bayley 2006). Individual items from the cognitive and communication scales were selected for analysis. Parents provided information regarding their infant's developmental and family history. RESULTS: The percentage of infants who attained each skill was calculated within 2-month age bands. For infants who did not show skill acquisition within each age band, the rates of prematurity, heart defects, corrective heart surgery and significant illness were calculated as well. CONCLUSIONS: This study provides foundational information that can contribute to the formulation of a developmental schedule for cognitive and language milestone acquisition in infants with DS.

Relationship between epa level of supervision with their associated subcompetency milestone levels in pediatric fellow assessment.

BACKGROUND: Entrustable Professional Activities (EPA) and competencies represent components of a competency-based education framework. EPAs are assessed based on the level of supervision (LOS) necessary to perform the activity safely and effectively. The broad competencies, broken down into narrower subcompetencies, are assessed using milestones, observable behaviors of one's abilities along a developmental spectrum. Integration of the two methods, accomplished by mapping the most relevant subcompetencies to each EPA, may provide a cross check between the two forms of assessment and uncover those subcompetencies that have the greatest influence on the EPA assessment. OBJECTIVES: We hypothesized that 1) there would be a strong correlation between EPA LOS ratings with the milestone levels for the subcompetencies mapped to the EPA; 2) some subcompetencies would be more critical in determining entrustment decisions than others, and 3) the correlation would be weaker if the analysis included only milestones reported to the Accreditation Council for Graduate Medical Education (ACGME). METHODS: In fall 2014 and spring 2015, the Subspecialty Pediatrics Investigator Network asked Clinical Competency Committees to assign milestone levels to each trainee enrolled in a pediatric fellowship for all subcompetencies mapped to 6 Common Pediatric Subspecialty EPAs as well as provide a rating for each EPA based upon a 5-point LOS scale. RESULTS: One-thousand forty fellows were assessed in fall and 1048 in spring, representing about 27% of all fellows. For each EPA and in both periods, the average milestone level was highly correlated with LOS (rho range 0.59-0.74; p < 0.001). Correlations were similar when using a weighted versus unweighted milestone score or using only the ACGME reported milestones (p > 0.05). CONCLUSIONS: We found a strong relationship between milestone level and EPA LOS rating but no difference if the subcompetencies were weighted, or if only milestones reported to the ACGME were used. Our results suggest that representative behaviors needed to effectively perform the EPA, such as key subcompetencies and milestones, allow for future language adaptations while still supporting the current model of assessment. In addition, these data provide additional validity evidence for using these complementary tools in building a program of assessment.