Affiliation: Kennedy Krieger Institute
- Regulation of the preprosomatostatin gene by cyclic-AMP in cerebrocortical neuronsG Capone
Division of Developmental Pediatrics, Johns Hopkins University School of Medicine, 625 North Wolfe Street, Baltimore, MD 21205, USA
Brain Res Mol Brain Res 60:247-58. 1998....
- Down syndrome: advances in molecular biology and the neurosciencesG T Capone
Department of Pediatrics, Johns Hopkins University School of Medicine, and Kennedy Krieger Institute, Baltimore, Maryland, USA
J Dev Behav Pediatr 22:40-59. 2001..To develop novel therapeutic strategies, the effects of gene dosage imbalance need to be understood within the framework of those critical biological events that regulate brain organization and function...
- Risperidone use in children with Down syndrome, severe intellectual disability, and comorbid autistic spectrum disorders: a naturalistic studyGeorge T Capone
Division of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland 21231, USA
J Dev Behav Pediatr 29:106-16. 2008..We hypothesized that hyperactivity and disruptive behaviors would improve in response to risperidone treatment consistent with previous studies of children with ASD...
- Evidence for increased mitochondrial superoxide production in Down syndromeGeorge Capone
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Life Sci 70:2885-95. 2002..The role of the mitochondria in superoxide anion production and the mechanisms underlying its generation in DS deserves further study...
- Neurobehavioral disorders in children, adolescents, and young adults with Down syndromeGeorge Capone
Down Syndrome Clinic DSC at Kennedy Krieger Institute, 707 N Broadway, Baltimore MD 21205, USA
Am J Med Genet C Semin Med Genet 142:158-72. 2006..Improvement in physiologic regulation, emotional stability, and neurocognitive processing is one of the most elusive but fundamental goals of pharmacologic intervention in these disorders...
- Down syndrome and comorbid autism-spectrum disorder: characterization using the aberrant behavior checklistGeorge T Capone
Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA
Am J Med Genet A 134:373-80. 2005..This study demonstrates the feasibility of using the ABC to characterize the neurobehavioral phenotype of a cohort of children with trisomy 21 and ASD for ongoing research purposes...
- Autism spectrum disorder in fragile X syndrome: communication, social interaction, and specific behaviorsWalter E Kaufmann
Kennedy Krieger Institute, Baltimore, Maryland 21211, USA
Am J Med Genet A 129:225-34. 2004..Altogether, our findings demonstrate that the diagnosis of ASD in FraX reflects, to a large extent, an impairment in social interaction that is expressed with variable severity in young males with FraX...
- Specificity of cerebellar vermian abnormalities in autism: a quantitative magnetic resonance imaging studyWalter E Kaufmann
Kennedy Krieger Institute, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
J Child Neurol 18:463-70. 2003..The latter results are consistent with MRI studies showing lobules VI-VII hyperplasia in a subset of subjects with idiopathic autism and cerebral and hippocampal enlargements in fragile X syndrome...
- Autistic-spectrum disorders in Down syndrome: further delineation and distinction from other behavioral abnormalitiesJohn C Carter
Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Baltimore, Maryland 21211, USA
Am J Med Genet B Neuropsychiatr Genet 144:87-94. 2007..Overall, our findings indicate that a diagnosis of DS + ASD represents a distinctive set of aberrant behaviors marked by characteristic odd/bizarre stereotypic behavior, anxiety, and social withdrawal...
- Cerebral growth in Fragile X syndrome: review and comparison with Down syndromeWendy R Kates
aMRI Analysis Laboratory, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
Microsc Res Tech 57:159-67. 2002..These neuroimaging data are discussed in the context of FraX neurobiology and other developmental disorders...
- Neuroanatomic correlates of autism and stereotypy in children with Down syndromeJohn C Carter
Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Baltimore, MD 21211, USA
Neuroreport 19:653-6. 2008..Cerebellar white matter volumes were positively correlated with severity of stereotypies, a distinctive feature of ASD in DS...
- Obstructive sleep apnea in adults with Down syndromeMaria S Trois
Department of Pediatrics and Medicine, Johns Hopkins University School of Medicine, Baltimore MD, USA
J Clin Sleep Med 5:317-23. 2009..Although adults with DS have many predisposing factors for OSAS, this population has not been well studied. We hypothesized that OSAS is common in adults with DS, and that the severity of OSAS is worse in DS adults who are more obese...
- New onset focal weakness in children with Down syndromeGordon Worley
Department of Pediatrics, Program in Neurodevelopmental Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
Am J Med Genet A 128:15-8. 2004..The differential diagnosis of new onset focal weakness in DS is broad, with diseases reported involving all levels of the nervous system from brain to muscle. For some diagnoses, expeditious diagnosis may improve outcome...
- The effects of piracetam on cognitive performance in a mouse model of Down's syndromeTimothy H Moran
Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Ross 618, 720 Rutland Avenue, Baltimore, MD 21205 2196, USA
Physiol Behav 77:403-9. 2002..The 300-mg/kg/day-piracetam dose was associated with a reversal of the nocturnal spontaneous hyperactivity in Ts65Dn. These data do not provide support for piracetam treatment for individuals with DS...
- The efficacy, safety, and tolerability of donepezil for the treatment of young adults with Down syndromePriya S Kishnani
Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
Am J Med Genet A 149:1641-54. 2009..Outcomes in post hoc analyses suggested efficacy in some, but not all subjects, consistent with phenotypic variability of DS. Additional studies are required to confirm potential benefits of donepezil in this population...