Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function.

Potocki-Shaffer syndrome is a contiguous gene deletion syndrome involving 11p11.2p12 and characterized by multiple exostoses, biparietal foramina, genitourinary anomalies in males, central nervous system abnormalities, intellectual disability, and craniofacial abnormalities. Current literature implicates haploinsufficiency of three genes (ALX4, EXT2, and PHF21A) in causing some of the cardinal features of PSS. We report a patient with multiple exostoses, biparietal foramina, and history of mild developmental delay. Cognitive and behavioral testing supported formal diagnoses of anxiety, verbal dyspraxia, articulation disorder, and coordination disorder, without intellectual disability. His facial features, though distinctive, were not typical of those observed in PSS. As the chromosomal deletion does not encompass PHF21A, this case lends further support that haploinsufficiency of PHF21A contributes to the intellectual disability and craniofacial abnormalities in PSS and that there are other genes in the region which likely contribute to the behavioral phenotype in this syndrome. © 2017 Wiley Periodicals, Inc.

Unpacking the prevalence: A warning against overstating the recently narrowed gap for Black autistic youth.

Recent findings from the Centers for Disease Control and Prevention's (CDC) Autism and Developmental Disabilities Monitoring (ADDM) Network's 2020 prevalence report indicate that disparities in autism diagnoses between Black and White youth have narrowed, reflecting improved screening, awareness, and access to services (Maenner et al., 2023. Morbidity and Mortality Weekly Report. Surveillance Summaries (Washington, D.C.: 2002), 72, 1-14.). Claims of reducing disparities beyond prevalence rates, however, are not fully supported, as indicated by the reality that Black youth whose screenings indicate autistic traits are still not being referred for full evaluation or early intervention services at the same rate as their White peers (Major et al., 2020. Autism, 24, 1629-1638; Smith et al., 2020. Pediatrics, 145, S35-S46.). Black 8-year-olds identified as autistic still experience disparate educational placements (Waitoller et al., 2010. The Journal of Special Education. 44, 29-49.) where services may not be autism-specific or have Individual Education Plan goals only focused on "behavior problems" (Severini et al., 2018. Journal of Autism and Developmental Disorders, 48, 3261-3272.), are served in the most restrictive environments (Skiba et al., 2006. Exceptional Children, 72, 411-424.) and lack consistent augmentative and alternative communication support (Pope et al., 2022. American Journal of Speech-Language Pathology, 31, 2159-2174.). Additionally, ADMM researchers report consistent disparities in the identification of co-occurring intellectual disability where Black autistic children have significantly more co-occurrences than White autistic children. The purpose of this commentary is to first examine the assertion that the narrowed gap indicates, "…improved…access to services among historically underserved groups," (p. 9) (Maenner et al., 2023. Morbidity and Mortality Weekly Report. Surveillance Summaries (Washington, D.C.: 2002), 72, 1-14.). We will then recommend strategies to address the ongoing disparities.

Let Me Spell It Out: The Impact of Microaggression on the Health Care Professional.

CASE: Rachel is a 10-year-old White girl with attention-deficit/hyperactivity disorder and a history of trauma who presented for evaluation by Dr. Narayanaswamy, a developmental-behavioral pediatrician. A pediatric resident observed the visit with permission from Rachel's parents.During the visit, Dr. Narayanaswamy spoke to Rachel's case manager over the phone to advocate for a trauma-based day treatment program at her school. At the end of the call, the case manager asked the physician for her full name. Dr. Narayanaswamy responded with her name and asked the case manager, "Would you like me to spell it?" At that time, Rachel's father began to laugh, shook his head, and incredulously remarked, "Ugh, yeah you need to spell it." Dr. Narayanaswamy ignored the comment and completed the phone call.After the visit, Dr. Narayanaswamy explained to the resident that the father's derisive laughter was a microaggression. The resident appreciated the observation and, after a pause, asked why she chose not to defend herself when the microaggression occurred. Dr. Narayanaswamy reflected that she had refrained from responding to Rachel's father over concern that he would retaliate by providing low ratings on the postvisit patient satisfaction survey sent to all patients who received care at the institution. The granular survey results, comprising ratings in each survey subheading category for each clinician, are made public to members of her division each quarter, and low ratings are scrutinized by the leadership. Dr. Narayanaswamy thought it unfortunate that she felt inhibited in her response because this deprived the resident of observing ways to address microaggressions during an encounter, deprived herself the opportunity to respond directly to Rachel's father, and deprived Rachel from an instructive moment about racial empathy.Dr. Narayanaswamy wrote a letter about the incident to the chief of clinical affairs to inquire what recourse clinicians had in these situations and whether certain patient encounters could be flagged to prevent the postvisit patient survey from being automatically sent. The chief responded that the incident was unfortunate and praised Dr. Narayanaswamy's restraint and professionalism but denied her request to have postvisit surveys blocked for certain encounters. He shared that if a clinician were to be dissatisfied with a visit satisfaction rating, the clinician could petition for a review, and a committee would subsequently determine whether the review could be removed.How can health care professionals respond to microaggressions while maintaining a therapeutic alliance with the patient/family members and how can institutions support health care professionals in this endeavor?

Defining Developmental-Behavioral Pediatrics.

There is an insufficient number of specialty developmental-behavioral pediatrics (DBP) physicians, despite nearly 25% of children and adolescents having a developmental, learning, behavioral, or emotional problem. In the nearly 20 years since becoming a board-certified subspecialty, the definition of DBP clinical practice remains somewhat unclear. This lack of clarity likely contributes to recruitment challenges and workforce issues, and limited visibility of DBP among parents, other professionals, payors, and administrators. Defining DBP is therefore an important step in the survival and growth of the field. In this paper, we describe the methodology used to develop this definition along with the origins of DBP, the persistent challenges to defining its scope, what training in DBP involves, and what distinguishes DBP from other overlapping fields of medicine. We propose the following definition of DBP: developmental-behavioral pediatrics (DBP) is a board-certified, medical subspecialty that cares for children with complex and severe DBP problems by recognizing the multifaceted influences on the development and behavior of children and addressing them through systems-based practice and a neurodevelopmental, strength-based approach that optimizes functioning. Developmental behavioral pediatricians care for children from birth through young adulthood along a continuum including those suspected of, at risk for, or known to have developmental and behavioral disorders.

An Entrustable Professional Activity Addressing Racism and Pediatric Health Inequities.

Racism and discrimination are the root of many pediatric health inequities and are well described in the literature. Despite the pervasiveness of pediatric health inequities, we have failed to adequately educate and prepare general pediatricians and pediatric subspecialists to address them. Deficiencies within education across the entire continuum and in our health care systems as a whole contribute to health inequities in unacceptable ways. To address these deficiencies, the field of pediatrics, along with other specialties, has been on a journey toward a more competency-based approach to education and assessment, and the framework created for the future is built on entrustable professional activities (EPAs). Competency-based medical education is one approach to addressing the deficiencies within graduate medical education and across the continuum by allowing educators to focus on the desired equitable patient outcomes and then develop an approach to teaching and assessing the tasks, knowledge, skills, and attitudes needed to achieve the goal of optimal, equitable patient care. To that end, we describe the development and content of a revised EPA entitled: Use of Population Health Strategies and Quality Improvement Methods to Promote Health and Address Racism, Discrimination, and Other Contributors to Inequities Among Pediatric Populations. We also highlight the ways in which this EPA can be used to inform curricula, assessments, professional development, organizational systems, and culture change.

Perceived Racism and Demographic, Mental Health, and Behavioral Characteristics Among High School Students During the COVID-19 Pandemic - Adolescent Behaviors and Experiences Survey, United States, January-June 2021.

Perceived racism in school (i.e., a student's report of being treated badly or unfairly because of their race or ethnicity) is an important yet understudied determinant of adolescent health and well-being. Knowing how perceived racism influences adolescent health can help reduce health inequities. CDC's 2021 Adolescent Behaviors and Experiences Survey (ABES), an online survey of a probability-based, nationally representative sample of U.S. public- and private-school students in grades 9-12 (N = 7,705), was conducted during January-June 2021 to assess student behaviors during the COVID-19 pandemic. CDC analyzed data from ABES to measure perceived racism and the extent to which perceptions of racism are associated with demographic, mental health, and behavioral characteristics. Mental health and behavioral characteristics analyzed included mental health status; virtual connection with others outside of school; serious difficulty concentrating, remembering, or making decisions; and feeling close to persons at school. Demographic characteristics analyzed included sex, race and ethnicity, and grade. Prevalence of perceived racism and associations between perceived racism and demographic, mental health, and behavioral characteristics are reported overall and stratified by race and ethnicity. Approximately one third (35.6%) of U.S. high school students reported perceived racism. Perceived racism was highest among Asian (63.9%), Black (55.2%), and multiracial students (54.5%). Students who reported perceived racism had higher prevalences of poor mental health (38.1%); difficulty concentrating, remembering, or making decisions (44.1%); and not feeling close to persons at school (40.7%). Perceived racism was higher among those students who reported poor mental health than those who did not report poor mental health during the pandemic among Asian (67.9% versus 40.5%), Black (62.1% versus 38.5%), Hispanic (45.7% and 22.9%), and White students (24.5% versus 12.7%). A better understanding of how negative health outcomes are associated with student experiences of racism can guide training for staff and students to promote cultural awareness and antiracist and inclusivity interventions, which are critical for promoting safe school environments for all students.

Racism as an Adverse Childhood Experience: An Interactive Workshop to Train Pediatricians to Address Racism in Clinical Care.

OBJECTIVE: The objective of this study was to address critical gaps in pediatric medical education by developing and evaluating an interactive educational workshop on racism as an adverse childhood experience (ACE). METHODS: A team of developmental-behavioral pediatrics professionals used a best-practice curriculum development model of Kern's 6 steps to develop the workshop curriculum. Based on a targeted needs assessment, goals and objectives to address the topics of race and racism in clinical practice were developed. A variety of educational strategies (e.g., audience polls, videos, didactic presentations, experiential activities, and peer-guided case-based discussion and practice) were used to appeal to varied learning styles. Selection of strategies was guided by self-determination theory, an adult learning model that addresses the needs of autonomy, competence, and relatedness. The workshop was implemented at 2 national pediatric meetings and evaluated using participant polls and written program evaluation. RESULTS: The workshop curriculum was well-received. Participants endorsed improvements in comfort level in talking about race/racism and demonstrated a significant change in preparation or comfort level for skills-based activities, including counseling families and offering resources to address experiences with racism, postworkshop. Participants endorsed intent to change clinical practice by discussing the issues of race and indicated a desire to receive additional training. CONCLUSION: An interactive educational workshop on racism as an ACE was effective in improving pediatric professionals' comfort level and self-rated skills. Desire for a longer educational session suggests receptivity to longitudinal approaches. Replication and refinement of the educational workshop could clarify effective components of this approach. We advocate for longitudinal training curricula that incorporate observable behavior change and skills to increase and further evaluate the impact. Health care provider education and training to implement antiracism efforts in clinical encounters with patients and families can serve as an entry point to the complex process of addressing racism at multiple levels in health care.

Ending Developmental-Behavioral Pediatrics Faculty Requirement for Pediatric Residency Programs-Desperate Times Do Not Justify Desperate Actions.

This Viewpoint discusses the issues at stake and potential adverse consequences of the Accreditation Council for Graduate Medial Education's proposal to remove the requirement for pediatric training programs to have board-certified developmental-behavioral pediatrician faculty members.

Prevalence of Autism Spectrum Disorder in Children Referred for Diagnostic Autism Evaluation.

Increased public awareness of autism spectrum disorders (ASD) and routine screening in primary care have contributed to increased requests for diagnostic ASD evaluations. However, given the scarcity of subspecialty autism diagnostic resources, overreferral of children suspected of having ASD may be contributing to long waiting lists at tertiary care autism centers and delaying diagnosis for those children who truly have ASD. To determine whether children are being excessively referred to ASD-specific diagnostic clinics, our objective was to determine the prevalence of true ASD diagnoses in children referred for diagnostic ASD evaluation. Charts of all patients referred to a regional autism center between April 2011 and August 2012 for suspicion of a possible ASD were retrospectively reviewed and demographic and clinical diagnoses abstracted. Only 214 of 348 patients evaluated (61%) received an ASD diagnosis. Thus, concerns about autism are not confirmed by an ASD diagnosis in a significant number of children.