Paul S. Carbone

Promoting the Participation of Children With Disabilities in Sports, Recreation, and Physical Activities

The benefits of physical activity are universal for all children, including those with disabilities. The participation of children with disabilities in sports and recreational activities promotes inclusion, minimizes deconditioning, optimizes physical functioning, and enhances overall well-being. Despite these benefits, children with disabilities are more restricted in their participation, have lower levels of fitness, and have higher levels of obesity than their peers without disabilities. Pediatricians and parents may overestimate the risks or overlook the benefits of physical activity in children with disabilities. Well-informed decisions regarding each childs participation must consider overall health status, individual activity preferences, safety precautions, and availability of appropriate programs and equipment. Health supervision visits afford pediatricians, children with disabilities, and parents opportunities to collaboratively generate goal-directed activity “prescriptions.” Child, family, financial, and societal barriers to participation need to be directly identified and addressed in the context of local, state, and federal laws. The goal is inclusion for all children with disabilities in appropriate activities. This clinical report discusses the importance of physical activity, recreation, and sports participation for children with disabilities and offers practical suggestions to pediatric health care professionals for the promotion of participation.

The Medical Home for Children with Autism Spectrum Disorders: Parent and Pediatrician Perspectives.

This qualitative study examines differences between perceptions of parents and pediatricians regarding the needs of children with autism spectrum disorders (ASDs) and their families within the medical home. Two separate focus groups of parents of children with ASDs and pediatricians were conducted. Parents and pediatricians identify unmet needs within medical homes of children with ASDs. Parents perceived that physicians did not act early upon their concerns about development, and that care is less comprehensive, coordinated and family-centered than desired. Pediatricians desire to improve services but cite lack of time, training and resources as barriers. Medical homes for children with ASDs would benefit from better pediatrician ASD education and medical systems that support extended visits, care coordination and interdisciplinary collaboration.

The Each Child Study: Systematic Screening for Autism Spectrum Disorders in a Pediatric Setting

OBJECTIVE: The goal of this study was to investigate the feasibility and outcome of a systematic autism screening process for all toddlers (aged 14–30 months) in a large, community-based pediatric practice. METHODS: All toddlers who presented to the clinic during the 6-month screening period were eligible. We used 2 screening questionnaires and allowed physicians to refer directly to capture as many children as possible. Receptionists and medical assistants distributed and collected screening questionnaires; research staff did all scoring and follow-up, either by telephone or in person when indicated. RESULTS: We obtained a high rate of screening (80% of eligible children). Of the 796 children screened, 3 had already been diagnosed with an autism spectrum disorder (ASD); an additional 10 children who showed signs of early ASD that warranted further evaluation or intervention were identified. Formal screening measures identified more children with ASD than did clinical judgment or caregiver concerns; however, no single method (ie, questionnaire, caregiver concerns, provider concerns) identified all children with signs of early ASD. We had excellent participation from racially and ethnically diverse families, including Spanish-speaking families. Thirty-two percent of the children who were screened did not present for a well-child visit during the study period and were screened at a sick visit, follow-up visit, or injection appointment. CONCLUSIONS: A partnership between pediatricians and autism specialists resulted in effective, systematic autism screening. Future studies should examine how to create effective systems of care.

Parent-provider-community partnerships: optimizing outcomes for children with disabilities.

Children with disabilities and their families have multifaceted medical, developmental, educational, and habilitative needs that are best addressed through strong partnerships among parents, providers, and communities. However, traditional health care systems are designed to address acute rather than chronic conditions. Children with disabilities require high-quality medical homes that provide care coordination and transitional care, and their families require social and financial supports. Integrated community systems of care that promote participation of all children are needed. The purpose of this clinical report is to explore the challenges of developing effective community-based systems of care and to offer suggestions to pediatricians and policy-makers regarding the development of partnerships among children with disabilities, their families, and health care and other providers to maximize health and well-being of these children and their families.

Sociodemographic risk factors associated with autism spectrum disorders and intellectual disability

This study examined the hypotheses that (1) sociodemographic risk factors in young children with autism spectrum disorders (ASD) and/or intellectual disability (ID) significantly vary by disability type, and (2) measures of income (mean adjusted gross income, mean federal taxes paid, and mean tax exemptions) significantly increase between 1994 and 2002, and are lower in families with a child with ASD and/or ID compared with the general population. A multiple source surveillance system utilizing a retrospective record review was used to identify ASD and ID cases from a population of 26,108 eight‐year‐old children born in 1994 and living in Utah in 2002. ASD without ID (ASD‐only, n = 99) cases were significantly more likely to be male (P<0.01) and have mothers of White non‐Hispanic ethnicity (P = 0.02). ASD with ID (ASD/ID, n = 33) cases were significantly more likely to be male (P<0.01) and have mothers older than 34 years (P = 0.03). ID without ASD (ID‐only, n = 113) cases were significantly more likely to have fathers older than 34 years (P<0.01) and were significantly less likely to have mothers with >13 years education (P<0.01). Measures of income for cases at birth and at 8 years of age were not significantly lower than the general population and mean adjusted income of cases significantly increased from birth to 8 years of age. Investigations focused on defining early sociodemographic risk factors by different endophenotypes of ASD may assist in identifying risk factors for this complex group of neurodevelopmental disorders. Aggregate tax information may be a unique resource to utilize for population‐based analysis. Autism Res 2011,4:438–448.

Moving From Research to Practice in the Primary Care of Children With Autism Spectrum Disorders

Autism spectrum disorders (ASD), once thought rare, are now commonly encountered in clinical practice. Academic pediatricians may be expected to teach medical students and pediatric residents about ASD, but most likely received limited exposure to ASD during their training. In recent years, research that informs the clinical guidance provided to pediatricians regarding surveillance, screening, and ongoing management of children with ASD has accelerated. By 24 months of age, children with ASD exhibit delays across multiple domains of development, yet the diagnosis is frequently made much later. Careful developmental surveillance lowers the age of identification of children with ASD. Several screening tools appropriate for use in primary care settings can aid in early identification. Improved surveillance and screening is of benefit because early intensive behavioral intervention has the potential to improve the developmental trajectory of children with ASD. Providing appropriate medical care for children with ASD improves both child and family outcomes. Recent research regarding sleep disturbances, gastrointestinal problems, and epilepsy in children with ASD has led to clinical pathways to evaluate and address these issues within the context of primary care. By being aware of and disseminating these research findings, academic pediatricians can help future and current clinicians improve the care of children with ASD.

Building a Person-Centered Medical Home: Lessons from a Program for People with Developmental Disabilities

The HOME Program provides medical and behavioral health care for people with developmental disabilities across the lifespan. Its unique funding structure provides a fiscally viable, and replicable, means of supporting case management in a medical home setting, addressing system-level barriers that typically impede the implementation of the patient-centered medical home.

Addressing Sexuality in Youth with Autism Spectrum Disorders: Current Pediatric Practices and Barriers

Objective: Research on adolescents and young adults with autism spectrum disorders (ASDs) has focused on promoting independence and optimizing quality of life, yet the areas of sexual development and sexuality has been largely neglected. The American Academy of Pediatrics encourages pediatricians to address sexuality issues in youth with disabilities to foster healthy development and minimize negative consequences. However, it is unclear to what extent pediatricians address sexuality issues in this population. Methods: Two hundred three pediatricians who regularly care for youth with ASD completed an online survey about their experiences in providing sexuality-related care to families and youth with ASD. Results: Respondents discussed an average of 10.9 of 26 sexuality topics with all families at least once during routine visits. Experience in caring for youth with ASD correlated positively with the number of sexuality-related topics discussed and with self-reported comfort discussing sexuality with parents of youth with ASD. The most common barriers to providing comprehensive sexuality-related care to youth with ASD included logistical barriers, pediatrician and parent discomfort, lack of training, and absence of information and materials to help pediatricians address sexuality in this population. Conclusions: Although most pediatricians acknowledged the importance of addressing sexuality-related issues with youth with ASD and their families, several important sexuality-related topics were rarely discussed due to a variety of perceived barriers. Implications and recommendations are discussed.

Treating the Whole Person With Autism: The Proceedings of the Autism Speaks National Autism Conference

The identification of autism spectrum disorders has increased dramatically over the past decade, with the latest estimates indicating prevalence as high as 1 in 54 boys. There is greater awareness of medical conditions that co-occur with autism and expansion of treatment options. Closer scrutiny has led to refinement of the diagnostic criteria, and there have been advances in genetics examining potential causal factors. Transition to adulthood is an area of growing concern, and professionals and families require guidance on this issue. This article summarizes the proceedings of the Autism Speaks conference on Treating the Whole Person with Autism: Care across the Lifespan. The conference was organized with the intent of providing a forum for both families and professionals to learn about the most current research in the field. Dr. Sue Swedo provides important background information regarding the changes in the diagnostic criteria for autism spectrum disorders. She particularly deals with the concerns of individuals and families that their autism diagnosis may change. Recommendations for genetic testing and its interpretation are provided by Dr. David Miller. His discussion helps make sense of the utility of genetic testing for ASD, along with demonstration of the complexity of determining which genetic factors are doing what and through which pathways. Dr. Jeremy Veenstra-VanderWeele provides useful background information on how medicines are initially identified and for what purpose and goes on to describe the present and future treatments in pharmacology. Medical issues are addressed by Dr. Paul Carbone, especially the coordination of comprehensive services through the medical home model of care. Dr. Julie Lounds Taylor concludes with guidance on preparation for adulthood, a topic of great importance to families as their child matures and for the professionals who will help guide this transition.

Screening children with neurofibromatosis type 1 for autism spectrum disorder

Autism spectrum disorder (ASD) is reported to be increased in neurofibromatosis type 1 (NF1), but its unknown if ASD screening tools are sensitive and specific for NF1. This study compared the rate at which children with NF1 screen‐positive for two ASD screening tools [Modified Checklist for Autism in Toddlers (M‐CHAT) and Childhood Autism Spectrum Test (CAST)] to the screen‐positive rate of the general population. A retrospective cross‐sectional observational design to investigate the association between children with NF1 and at risk status for ASD was used. Medical records of children between 16 months and 11 years of age seen in an NF Clinic were reviewed for an ASD screening questionnaire. There were no statistically significant differences in the screen‐positive rate for ASD in NF1 compared to published controls, but mean CAST scores were higher in NF1.