Desmond P. Kelly

22q13 deletion syndrome

We have recently collected clinical information on 37 individuals with deletion of 22q13 and compared the features of these individuals with 24 previously reported cases. The features most frequently associated with this deletion are global developmental delay, generalized hypotonia, absent or severely delayed speech, and normal to advanced growth. Minor anomalies include dolicocephaly, abnormal ears, ptosis, dysplastic toenails, and relatively large hands. As with many terminal deletions involving pale G-band regions, the deletion can be extremely subtle and can go undetected on routine cytogenetic analysis. In fact, 32% of the individuals in our study had previous chromosome analyses that failed to detect the deletion. Eight of 37 individuals had deletion of 22q13 secondary to an unbalanced chromosome translocation. In the newborn, this deletion should be considered in cases of hypotonia for which other common causes have been excluded. In the older child, this syndrome should be suspected in individuals with normal growth, profound developmental delay, absent or delayed speech, and minor dysmorphic features. We recommend high-resolution chromosome analysis and fluorescence in situ hybridization studies, or molecular analysis to exclude this diagnosis.

Attention Deficits in School-Aged Children and Adolescents: Current Issues and Practice

Attention deficits in school-aged children and adolescents pose unique diagnostic and management challenges for the practitioner. While this symptom reflects a heterogeneous spectrum of disorders with varying etiologies, clinical manifestation, treatment needs, and outcomes, there are sufficient common attributes to enable identification and treatment. Accurate diagnosis relies on synthesis of information from history, rating scales, direct observations, and psychometric testing. Close attention must be paid to potential underlying or associated medical, processing, emotional, and psychosocial problems. Multimodal treatment is essential with close collaboration between the child, parents, and professionals. While there is a risk of negative outcomes if the symptoms are left unattended, many of these children also harbor strengths that need to be identified and nurtured.

Evaluating and Managing Attention Deficit Disorder in Children Who Are Deaf or Hard of Hearing

Effective management of children who are deaf or hard of hearing and faced with the added challenge of Attention Deficit Disorder requires a comprehensive and coordinated spectrum of services. A complex array of underlying or associated factors can mimic, cause, or exaggerate the symptoms. Careful diagnosis is thus essential and is the prerequisite for developing effective intervention. In this article, we present a practical approach to the problem, based on experience with a model treatment program at a residential school for the deaf. Suggestions are provided regarding the diagnostic work-up of children presenting with attention problems. Management approaches are discussed for the classroom, home, and residential area as well as specialized therapeutic intervention and the use of medication. A model for implementing a treatment program in a school is presented, and future challenges are discussed.

developmental and Behavioral Pediatric Practice Patterns and Implications for the Workforce: Results of the Future of Pediatric Education Ii Survey of Sections Project

&NA; A survey of developmental‐behavioral pediatricians was conducted to obtain data and insights on their current practice. As part of the Future of Pediatric Education (FOPE) II Survey of Sections Project, questionnaires were sent to individuals who were most likely to represent those pediatricians engaged in the subspecialty of developmental‐behavioral pediatrics. Four groups of physicians were compared within the survey: developmental‐behavioral fellowship group (n = 272), developmental disabilities fellowship group (n = 139), general academic pediatrics or other fellowship group (n = 57), and a nonfellowship group (n = 224). A majority of respondents indicated a need for an increased number of subspecialists in developmental‐behavioral pediatrics in their community during the next 3 to 5 years. There were significant differences in the survey results of a variety of practice issues between those who had and had not received formal fellowship training. The survey data illustrate a developmental‐behavioral pediatrician workforce that is becoming increasingly fellowship trained, receiving more referrals, and encountering constraints to seeing more patients in an era of declining reimbursement for services. To overcome these obstacles, stakeholders in child health, including health care payers, will need to be educated about the unique skills and clinical expertise of physicians in developmental‐behavioral pediatrics and neurodevelopmental disabilities. J Dev Behav Pediatr 24:180‐188, 2003. Index terms: workforce, developmental‐behavioral pediatrics, neurodevelopmental disabilities, practice.

School-linked and school-based health services: a renewed call for collaboration between school psychologists and medical professionals

Health care and education reform provide opportunities to build systems that promote rather than retard collaboration between school psychologists and medical professionals. School-linked and school-based health services (SLSBHS) are a family of approaches that provide medical, social, and mental health services to students through school settings. These services have potential to provide more than acute care or first-aid services. SLSBHS provide medical care to uninsured children, students with chronic medical needs, at-risk children, and the overall school population. However, there are usually not enough funds to hire new staff members in most school districts. Expanding the roles of current school staff, promoting interdisciplinary collaboration, and implementing creative fiscal strategies are necessary to develop SLSBHS. Interdisciplinary collaboration may be the largest hurdle to developing SLSBHS. As such, school psychologists and medical professionals may need to rethink their professional roles and develop new techniques of interdisciplinary consultation to fulfill the potential of SLSBHS.

Clinical differences between subjects with familial and non-familial Tourette's syndrome: a case series.

Objective: As many as 35 percent of Tourettes Syndrome patients do not acquire this disorder genetically. Since there has been little research conducted in this area, the purpose of this study was to compare the clinical differences between two groups of patients with Tourettes Syndrome (TS), one with family history of TS and one without. Method: Using data of eight previously diagnosed TS patients, the authors made comparisons of clinical and sociodemographic variables between a group of three patients with family history of TS and five with no family history. Results: There were no differences in clinical presentation, current age, age at diagnosis, gender, and socioeconomic status. There were differences in birth history, developmental milestones, I.Q., and neurological findings between patients with family history and no family history of TS. Conclusions: Our findings support the need for testing the hypothesis of a multidetermined origin of TS, a disorder in which hereditary, neuropsychological, and environmental factors play a role.

Interdisciplinary collaborative future for developmental-behavioral pediatrics: barriers and opportunities.

On the occasion of the 30th Anniversary of the Society for Developmental and Behavioral Pediatrics, we should reflect with pride on the many and varied accomplishments of the Society. We continue to grow in membership with a broadening interdisciplinary reach. The Society has been instrumental in establishing training curricula in graduate medical education and our affiliation with a dynamic research network will enable increased scholarly productivity for many of our members. This year marks the 10th anniversary of the first Board Certifying examination in our subspecialty that was accomplished in large part because of the efforts of leaders in our Society. Our standard bearing Journal is thriving. Our members are involved in national efforts to support our subspecialty through a broad range of Committees and Special Interest Groups. Our Annual Meeting provides energizing opportunities to network, learn the latest in scientific research, and set an agenda for the coming year. There truly is “something for everyone.” The Society for Developmental and Behavioral Pediatrics (SDBP) is on solid financial footing and is fortunate to have excellent management. That said, although we have much to celebrate, we must recognize that many challenges still remain, and our future will not be assured without much more proactive work on the part of our members. As we enter our 30s, we might reflect on the musings of developmental theorists with regard to the challenges of young adulthood. This stage is characterized as the time when identity has been formed but must now be fused with the identity of others. Our developmental task is that of negotiating intimacy versus isolation. As Levinson writes, “the provisional character of the twenties is ending and life is becoming more serious.”1 The Society has taken steps in this direction with focused efforts to ensure that we “are at the table” as critical decisions are made with regard to evolving systems of health care delivery. We have been successful at raising our profile with increased involvement in national initiatives. We have established productive links with other professional groups and are entering the realm of policy and position statements and practice guidelines. Our new strategic plan recognizes the urgent need to support members in the provision of sustainable clinical services while we continue our efforts in teaching and research. The challenges involved in achieving the goal of sustainability are formidable. It is critical that we define our niche and communicate our relevance within the health care system. We must advance truly interdisciplinary research and training and develop innovative systems of care to more efficiently meet the burgeoning demand for our clinical services. We must also continue to advocate for a viable future as a subspecialty. I will introduce our revised mission and vision statements and reflect on the wisdom of past presidents as related to interdisciplinary collaboration. A review of the evidence related to benefits of, and barriers to, interdisciplinary collaboration will be coupled with reflections on our local experience. I will conclude with consideration of the challenges and opportunities for our subspecialty in a changing environment of health service delivery and a call to action.

The Challenge of Attention Deficit Disorder in Children Who Are Deaf or Hard of Hearing

Attention Deficit Disorder is a common cause of school problems. Yet, the condition has not been examined extensively in children who are deaf or hard of hearing. In this article, the varying manifestations and sub-groups of the condition and its impact on the behavior and performance of these children are discussed. Its prevalence is examined by a review of the literature and an analysis of studies at a state residential school for the deaf. In this population, the prevalence appears to be similar to that reported in hearing children; however, some subgroups of deaf children, such as those with acquired hearing loss, are at greater risk. Recent legislative initiatives concerning the condition are discussed, as are challenges for managing the problem and directions for future research.

A Neurodevelopmental Approach to Differences in Learning

Publisher Summary This chapter provides an introduction to a neurodevelopmental approach to differences in learning in students with attention deficit hyperactivity disorder (ADHD) and learning disorders (LD). The approach requires that clinicians become adept at identifying the neurodevelopmental functions that are needed for the mastery of academic subskills. These neurodevelopmental functions represent a range of highly specific and basic cognitive developmental abilities or basic brain processes that may be needed for learning in school. An individuals neurodevelopmental function is likely to contribute to learning across a range of performance areas. Neurodevelopmental functions can be grouped into eight capacities or “neurodevelopmental constructs.” They help organize thinking and communication about learning differences by focusing on the roles and the interactions of neurodevelopmental functions with regard to specific behaviors. They also allow for flexibility in the ways that differences in learning are evaluated, whereas at the same time pinpointing areas of learning breakdown and creating very specific plans for helping students succeed. Different neurodevelopmental constructs and their constituent functions are described in the chapter.

The Challenge of Assessing Response to Psychotropic Medication Trials in Very Young Children with Fragile X Syndrome: A Cautionary Note.

Desmond Kelly, MD Fragile X syndrome (FXS) has been extensively researched and provides a very helpful model for the elucidation of links between specific gene defects and associated behavioral phenotypes. The underlying mechanisms have been clearly delineated, with degrees of absence of the fragile X mental retardation protein mediating changes in the morphology and functionality of synapses and a broad range of cognitive and behavioral deficits.1 However, there is significant heterogeneity in the deficits observed among individuals with FXS, and treatment studies have been beset by challenges. Although behavioral interventions for the disorders commonly associated with FXS, such as autism spectrum disorder (ASD), have proven efficacy, trials of novel FXS therapies (such as the selective mGluR5 antagonist mavoglurant and the GABA antagonist arbaclofen) have had less clear results. The challenges include subpopulations with possibly differential therapeutic responses, a lack of reliable outcome measures, and a lack of biomarkers that can track whether a specific mechanism is responsive to a new drug and correlates with clinical improvement.1 The study in this issue of the journal, A Randomized Double-Blind, Placebo-Controlled Trial of Low-Dose Sertraline in Young Children with Fragile X Syndrome,2 highlights the challenges involved in the study of FXS and also raises questions regarding the use of psychotropic medications in very young children. Early intervention for neurodevelopmental disorders (primarily through developmental therapies and intensive behavioral therapy) has been shown to offer the best chance to optimize disrupted neural pathways and improve functional outcome. The option of biological interventions to modify synaptic formation and function also offers promise. The authors of the study speculate that the targeted therapies previously studied for FXS would have been more successful if applied at an earlier age. Building on retrospective research suggesting that sertraline for anxiety in young children with FXS had a beneficial effect on language development3; the current study examined the use of low-dose sertraline in children as young as 2 years. There is still much we do not understand about early brain development. The first years of life are characterized by very rapid changes in brain structure and function with continuous increase in gray matter from birth through 5 years of age followed by a gradual decrease.4 Between 2 and 6 years of life (the age range of subjects in the current study), there is an explosive increase in synapse formation and density, dopamine receptor density, and cerebral metabolic rates that peak in the first 3 years of life followed by refinement of functional pathways.5 This process is driven by genes whose expression is modified by a wide range of epigenetic factors. Thus, any environmental influences, including drugs, can have a lifelong impact on function.6,7 In animal models, early exposure to psychotropic medications can permanently affect distribution of the neurotransmitter receptors.5 Although this is the rationale for the current study, the risks of unintended negative outcomes must also be considered. Despite the rapid increase in use of psychotropic medications in very young children, there is a paucity of evidence regarding both efficacy and potential adverse effects. It is well known that the incidence of side effects to medications, including the selective serotonin reuptake inhibitors, is higher in young children.8 Although sertraline seems to have fewer adverse effects than fluoxetine in this age range, it has not been approved by the Food and Drug Administration for use in children younger than 6 years and off label use requires very careful monitoring and long-term follow-up.9 The study was an exploratory first trial of sertraline in very young children with FXS. Intent-to-treat analysis showed no differences from placebo on the primary From the Division of Developmental-Behavioral Pediatrics, Greenville Health System Children’s Hospital, and Department of Pediatrics, University of South Carolina School of Medicine Greenville, Greenville, SC.