Neelkamal Soares

Sterol Metabolism Disorders and Neurodevelopment--An Update.

Cholesterol has numerous quintessential functions in normal cell physiology, as well as in embryonic and postnatal development. It is a major component of cell membranes and myelin, and is a precursor of steroid hormones and bile acids. The development of the blood brain barrier likely around 12-18 weeks of human gestation makes the developing embryonic/fetal brain dependent on endogenous cholesterol synthesis. Known enzyme defects along the cholesterol biosynthetic pathway result in a host of neurodevelopmental and behavioral findings along with CNS structural anomalies. In this article, we review sterol synthesis disorders in the pre- and post-squalene pathway highlighting neurodevelopmental aspects that underlie the clinical presentations and course of Smith-Lemli-Opitz Syndrome (SLOS), mevalonic aciduria (MVA) or the milder version hyper-immunoglobulinemia D and periodic fever syndrome (HIDS), Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (ABS1), congenital hemidysplasia with icthyosiform nevus and limb defects (CHILD) syndrome, CK syndrome, sterol C4 methyl oxidase (SC4MOL) deficiency, X-linked dominant chondrodysplasia punctata 2(CDPX2)/ Conradi Hunermann syndrome, lathosterolosis and desmosterolosis, We also discuss current controversies and share thoughts on future directions in the field.

Telehealth in developmental-behavioral pediatrics.

Abstract: Developmental-behavioral pediatrics (DBP) is recognized as one of the fields with the greatest shortages of pediatric subspecialists. Families who access care often must travel great distances to tertiary academic medical centers or endure long waiting lists. While the shortages are likely to persist due to limited provider availability and an increasing number of children with developmental and behavioral disorders being identified, our field must look to innovative ways to reduce the barriers to access. One such way is telehealth, the use of videoconferencing to deliver DBP services to underserved populations. We aim to describe the practical uses of telehealth for the delivery of diagnostic and management clinical services in a variety of settings and for the additional educational and research benefits of the modality. We will highlight the obstacles to setting up a successful DBP telehealth practice and direct readers to resources to address these in their communities. Most of all, we will demonstrate the benefit to families and children, practitioners, and health care systems of supplementing traditional in-person DBP services with telehealth modalities to enhance outreach and engagement with communities.

Navigating ethical issues with electronic health records in developmental-behavioral pediatric practice.

ABSTRACT: The increasing use of electronic health records (EHRs) allows for sharing of information across clinicians, quick access to laboratory results, and supports for documentation. However, this environment raises new issues of ethics and privacy, and it magnifies other issues that existed with paper records. In developmental-behavioral pediatrics (DBP) practice, which relies heavily on a team approach to blend pediatrics, mental health, and allied health, these issues are even more complicated. In this review, we highlight the ethical and privacy issues in DBP practice related to EHR use. Case examples illustrate the potential risks related to EHR access, confidentiality, and interprofessional collaboration. Suggestions to mitigate some of the ethical and privacy issues associated with EHRs at both an administrative level and a clinician level are included. With the expected increase in the adoption of EHRs by DBP clinicians in the near future, professional standards will need to be defined, and novel technological solutions may offer additional safeguards. Until then, professionals and organizations are responsible to uphold the standards of ethical practice while promoting effective information exchange to facilitate clinical care.

Introduction to quality improvement part one: defining the problem, making a plan.

Peter J. Chung, MD,* Rebecca A. Baum, MD,† Neelkamal S. Soares, MD,‡ Eugenia Chan, MD, MPH§ Although the term “quality” has different meanings for different stakeholders (providers, patients, payers, employers), all can agree on the goal of delivering the highest quality care possible to patients and families. How to achieve this goal, however, is often a daunting task, especially for clinicians who face many competing challenges in today’s health care environment. Quality improvement (QI) is a systematic, iterative process that calls for introducing a change in practice, measuring its effects, learning from the data, and continuing to make adjustments until results reach a target goal. Although every QI project is different, the process of creating effective and sustainable change follows the same general principles and presents similar themes and challenges. This 2-part series, while not intended to be a comprehensive overview, will introduce the reader to the field of QI, using a case scenario to illustrate how the methods and tools of QI can be used in developmentalbehavioral pediatrics. Part 1 will focus on defining the problem and developing a plan for change, and Part 2 will focus on the change process itself. More information regarding the tools used in the case can be found in the resources listed in Table 1.

Building Developmental-Behavioral Pediatrics in Low-Middle Income Countries Through International Collaboration.

A SPECIALTY SHORTAGE SITUATION India, despite recent economic development and pockets of abundant wealth, is classified as a lowermiddle income country with a gross national income per capita equivalent of

Introduction to quality improvement part two: making and maintaining change.

1,036 to

Prevalence of Depressive Disorders in Children with Specific Learning Disabilities

4,085.1 India forms 17% of the global population, accounts for 20% of the disease burden, but 74% of the physicians practice in urban areas2 and 70% of specialist positions in rural areas are unfilled.3 Among the most acute physician, subspecialty shortages are those of clinicians skilled in care of children with developmental disabilities (DD). There are more than 7.8 million children in India between 0 to 19 years with DD,4 but this is likely a conservative estimate because children with DD often go undiagnosed (especially in rural areas) due to poor access to assessment centers, a general societal stigma about disability reducing the likelihood that families will seek diagnoses and interventions, and the cost of health care in India’s prevalent fee-for-service model. It is hard to be certain about the numbers of specialists in developmental-behavioral pediatrics (DBP) in India who have skills in assessing and managing children with DD, although it is estimated at less than 40. Many of these clinicians are trail blazers, with a handful having undergone specialty training in DBP or equivalent in either the United States or United Kingdom prior to returning to practice in India. There continues to be a lack of critical mass of trained educators and DBP training programs in India to generate these much-needed providers.

Developmental-behavioral pediatric teaching of medical students: a national COMSEP survey.

Peter J. Chung, MD,* Rebecca A. Baum, MD,† Neelkamal S. Soares, MD,‡ Eugenia Chan, MD, MPH§ This is Part 2 of a case study in quality improvement (QI) in developmental–behavioral pediatrics. The purpose of this series was to provide the reader with the tools necessary to create effective change. In Part 1, we reviewed the initial stages of the QI process, including foundational steps such as assembling a team, defining the problem, and setting meaningful and realistic goals. We followed a fictional “improvement team” as they tackled the issue of attention-deficit hyperactivity disorder (ADHD) follow-up visit attendance. Our team learned the importance of using data to understand both their current state and their degree of progress, as well as the importance of gathering feedback from multiple perspectives throughout the QI process. Part 2 of this article picks up where we last visited with our team—they had defined their project aim, identified the key “drivers” or leverage points necessary to achieve their aim, and developed interventions to drive improvement, summarized in the team’s key driver diagram (Fig. 1). In this article, we will focus on our team’s progress as they implement their interventions. How will they know if their interventions are successful, and how can they make systematic improvements along the way to meet their goal? To understand the foundational concepts behind the team’s progress, the reader is encouraged to read Part 1 of this series.1 More information on the QI tools referenced in both articles can be found in the resources listed in Table 1. The PDSA model is a framework designed to help QI projects achieve their intended goal using iterative “tests of change” that start small and gradually progress to larger scope and/or scale, ultimately leading to systemic change. Figure 2 illustrates the iterative and continuous process of QI. Using a series of PDSA cycles can help QI teams to divide a larger overall goal into smaller, more manageable chunks. This is an optimal way to approach improvement for several reasons:

A Parent's Guide to Down Syndrome: Toward a Brighter Future

Prevalence of Depressive Disorders in Children With Specific Learning Disabilities Background: Learning disabled children are at risk for behavioral disorders, including depression. In India, diagnosis and interventions for learning disorders are limited.The purpose of the present study was to examine the prevalence of depression and its severity in school-aged children with specific learning disability (SLD) compared to non-learning disabled peers. Methods: In a tertiary care pediatric neurodevelopmental centre in Mumbai, we identified 200 children consecutively over twelve months referred for low academic performance, by screening of clinical records, academic history, vision-hearing tests, who additionally underwent psychoeducational battery and cognitive testing at the center, and were determined to have average intelligence . but meeting criteria for Specific Learning Disability (SLD). The controls were 100 siblings of the children who were screened for SLD by curriculum based tests.. We assessed depression using Hamilton Rating Scale for Depression (HDRS for 8-12 years) and Beck Depression Inventory II (BDI for 13-14 years).Additionally parental history of prescription medications for mental health needs was also noted. We performed multivariate logistic regression to study the association between SLD and depression. All activities were approved by the Institutional Review Board. Results: The mean (S D) age of children with SLD was 11.9 (1.6) years and of non-SLD children was 11.2 (1.2) years.In SLD group the M:F ratio was 1.5:1 and in the non SLD it was 0.8:1. A significantly higher proportion of children with SLD reported that their academic and extracurricular activities were reduced compared to children without SLD (6% vs 0%, p

The New Language of Toys-Teaching Communication Skills to Children with Special Needs

Background: The Council on Medical Student Education in Pediatrics (COMSEP) pediatric clerkship curriculum is widely followed. To date, there are no known studies on clerkship instruction related to developmental-behavioral pediatric (DBP) curricular elements. Purposes: The goals of this study are to examine pediatric clerkships’ current DBP teaching methods and to identify barriers and solutions to recommended curriculum implementation. Methods: Electronic survey was conducted with COMSEP-member pediatric clerkship directors. Descriptive statistics and qualitative data analysis was conducted. Results: Response rate was 66%. General Pediatricians (87.1%) were mostly responsible for clerkship DBP teaching. Around 18% of directors reported not assessing DBP competencies. Most clerkship directors report time constraints (61.8%) as a barrier to implementing the curriculum, along with faculty availability and resources. Suggested solutions included DBP faculty collaboration and resources. Conclusions: General pediatricians should collaborate with DBP faculty for instructional content creation, and community-based observational opportunities and web-based shared resources could help clerkship directors achieve the COMSEP DBP curriculum competencies.