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Miami, FL, United States

Jeste S.S.,University of California at Los Angeles | Tuchman R.,Nicklaus Childrens Hospital
Journal of Child Neurology | Year: 2015

Autism spectrum disorders and epilepsy commonly co-occur. In this review, we consider some unresolved questions regarding the temporal relationship, causal mechanisms, and clinical stratification of this comorbidity, highlighting throughout the interplay between autism spectrum disorder, epilepsy, and intellectual disability. We present data on the clinical characterization of children with autism spectrum disorder and epilepsy, discussing distinctive phenotypes in children with this comorbidity. Although some distinctive clinical features emerge, this comorbidity also informs convergent pathways in genetic variants that cause synaptic dysfunction. We then move beyond diagnostic categorization and consider the extent to which electrophysiology as a quantitative biomarker may help guide efforts in clinical stratification and outcome prediction. Epilepsy, and atypical electrophysiological patterns, in autism spectrum disorder may inform the definition of biologically meaningful subgroups within the spectrum that, in turn, can shed light on potential targets for intervention. © SAGE Publications. Source


Hernandez-Trujillo V.P.,Nicklaus Childrens Hospital | Hernandez-Trujillo V.P.,Florida International University
Immunology and Allergy Clinics of North America | Year: 2015

Recurrent infections in children are a cause for concern. It is essential to distinguish simple recurrent infections caused by exposures in the day care or school settings from those caused by inherent deficiencies in the immune system or other systemic diseases. Multiple diagnostic tools are available for the evaluation of recurrent infections. The sites of infections and organisms responsible are important in guiding clinicians in the appropriate laboratory work-up and diagnosis of these patients. Once a diagnosis is made, proper treatment and management decisions can be made to treat the patients appropriately and ensure their lifelong health. © 2015 Elsevier Inc. Source


Hryhorczuk A.L.,Tufts Medical Center and Floating Hospital for Children | Restrepo R.,Nicklaus Childrens Hospital | Lee E.Y.,Harvard University
American Journal of Roentgenology | Year: 2016

OBJECTIVE. The purpose of this article is to review some of the common indications for pediatric musculoskeletal ultrasound examination, with emphasis given to imaging technique, normal anatomy, and the spectrum of pathologic findings seen in the pediatric population. CONCLUSION. Ultrasound is an essential first-line tool in pediatric musculoskeletal imaging. It aids in determining which patients may benefit from further imaging, including radiography, CT, and MRI. © American Roentgen Ray Society. Source


Kovarik J.J.,Nicklaus Childrens Hospital | Doshi P.N.,Scott and White Healthcare | Collinge J.E.,University of Oklahoma | Plager D.A.,Indiana University
Journal of AAPOS | Year: 2015

Purpose To determine the prevalence of papilledema versus pseudopapilledema among children referred for suspected papilledema and to identify clinical factors differentiating the two diagnoses. Methods This is a prospective, cross-sectional analysis of patients <18 years old referred to a pediatric ophthalmology clinic for suspected papilledema by ophthalmoscopic examination between April 2012 and February 2014. Patients underwent detailed ophthalmologic and, when indicated, neurologic evaluation to determine the presence or absence of papilledema. Results A total of 34 patients were identified. Of these, 26 patients were diagnosed with pseudopapilledema or a normal variant; 2, with papilledema; and 6, with unrelated or indeterminate etiology. Headache was a presenting symptom in 25 patients. Five patients complained of additional symptoms suggestive of increased intracranial pressure, of whom 2 were patients diagnosed with papilledema. Conclusions The incidence of true papilledema among children referred for suspected papilledema based on fundus examination is very low. Headache is a common nonspecific symptom in most patients, whether or not they have papilledema. If children have no additional signs and/or symptoms suggestive of elevated ICP or vision loss, the need for evaluation of such children is not urgent. A detailed history and examination coupled with noninvasive testing, such as ultrasonography, will generally distinguish pseudopapilledema from other abnormal-appearing optic nerves. © 2015 American Association for Pediatric Ophthalmology and Strabismus. Source


Tuchman R.,Nicklaus Childrens Hospital
Epilepsy Currents | Year: 2015

The association of epilepsy, autism spectrum disorders (ASD), and intellectual disability (ID) is well recognized. There is a wide range of social-cognitive deficits that can be identified in epilepsy over the life-span, from ASD in infants with an epileptic encephalopathy, to social-cognitive impairments affecting social interaction and comprehension in those with normal nonsocial cognitive function. Identifying ASD and socialcognitive deficits is an important aspect of comprehensive epilepsy care. There are behavioral and educational interventions that exist to treat ASD and social-cognitive deficits. These behavioral, communication, and educational interventions, in conjunction with medications to treat the seizures, should be considered an integral part of the comprehensive management of epilepsy throughout the life-span. The following are the key points of this review: 1. Autism spectrum disorders and social-cognitive deficits are associated with epilepsy throughout the life-span, and identification of these deficits is an important part of epilepsy care. 2. Children with an epileptic encephalopathy such as infantile spasms are at high risk for developing ASD, and the social-cognitive deficits that precede ASD may be recognized in the first year of life. 3. In epilepsy, the likelihood of developing autism spectrum disorders is highest in those with ID, but there is a wide spectrum of manifestations, from ASD in children with epilepsy and ID, to social-cognitive impairments affecting social interaction and comprehension in those with normal nonsocial cognitive function. 4. Implementation of behavioral, communication, and educational interventions that exist to treat ASD and socialcognitive deficits, along with medications to treat the seizures, should be considered an important part of the comprehensive management of epilepsy throughout the life-span. Source

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