Research Topics
| I RapinSummaryAffiliation: Albert Einstein College of Medicine Country: USA Publications
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Detail Information
Publications
What is new in autism?Isabelle Rapin
Saul R Korey Department of Neurology, Department of Pediatrics, and Rose F Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York 10461, USA
Curr Opin Neurol 21:143-9. 2008..This review highlights the topics within the growing autism literature that are shaping current thinking on autism and advancing research and clinical understanding of autism spectrum disorders...- Subtypes of language disorders in school-age children with autismIsabelle Rapin
Saul R Korey Department of Neurology, Department of Pediatrics, and Rose F Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York 10461, USA
Dev Neuropsychol 34:66-84. 2009..The clusters refute a single language disorder in autism and are consonant with earlier-defined clinical subtypes... 
"Auditory neuropathy": physiologic and pathologic evidence calls for more diagnostic specificityIsabelle Rapin
Saul R Korey Department of Neurology, K 807, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA
Int J Pediatr Otorhinolaryngol 67:707-28. 2003....- Autism: definition, neurobiology, screening, diagnosisIsabelle Rapin
Saul R Korey Department of Neurology, Albert Einstein College of Medicine, Bronx, NY, USA
Pediatr Clin North Am 55:1129-46, viii. 2008..Early recognition of the social deficits that characterize autism is key to maximizing the potential of these children... - Update on the language disorders of individuals on the autistic spectrumIsabelle Rapin
Saul R Korey Department of Neurology, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY, USA
Brain Dev 25:166-72. 2003..Clearly, social and cognitive disorders alone provide an inadequate explanation for the range of language deficits in autism... - Cockayne syndrome and xeroderma pigmentosumI Rapin
Department of Neurology, Rose F Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, NY, USA
Neurology 55:1442-9. 2000.... - Consistency in the ratings of behaviors of communicatively impaired autistic and non-autistic preschool childrenI Rapin
Room 807 Kennedy Center, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461 USA
Eur Child Adolesc Psychiatry 8:214-24. 1999.... 
Cockayne syndrome in adults: review with clinical and pathologic study of a new caseIsabelle Rapin
Albert Einstein College of Medicine, Bronx, NY 10461, USA
J Child Neurol 21:991-1006. 2006....- Appropriate investigations for clinical care versus research in children with autismI Rapin
Saul R Korey Department of Neurology, Albert Einstein College of Medicine, Bronx, NY, USA
Brain Dev 21:152-6. 1999..This is not true, of course, in the context of a hypothesis-driven, approved research protocol where collecting standardized data and applying the most up-to-date research technologies is appropriate... - The influence of premorbid language skills and behavior on language recovery in children with verbal auditory agnosiaS K Klein
Saul R Korey Department of Neurology, Albert Einstein College of Medicine, Bronx, New York, USA
J Child Neurol 15:36-43. 2000..This study emphasizes the importance of assessing premorbid language and behavior in predicting recovery of language skills in children with language-epilepsy syndromes... - Autistic disorder versus other pervasive developmental disorders in young children: same or different?D A Allen
Division of Child Psychiatry, Department of Psychiatry, Albert Einstein College of Medicine, Bronx, NY, USA
Eur Child Adolesc Psychiatry 10:67-78. 2001.... - Language regression in childhoodS Shinnar
Department of Neurology, the Comprehensive Epilepsy Management Center at Montifiore Medical Center, Albert Einstein College of Medicine, Bronx, NY 10467, USA
Pediatr Neurol 24:183-9. 2001..Early identification and referral of these children is necessary to allow for diagnosis and intervention... - Children with inadequate language development: management guidelines for otolaryngologistsI Rapin
Saul R Korey Department of Neurology, Albert Einstein College of Medicine, Bronx, NY 10461
Int J Pediatr Otorhinolaryngol 16:189-98. 1988..Guidelines on when to become concerned and what to do about such children are provided. Early diagnosis is essential in order to provide remedial education at the language learning age when intervention is likely to be most efficacious... - Xeroderma pigmentosum/cockayne syndrome complex: first neuropathological study and review of eight other casesY Lindenbaum
Saul R. Korey Department of Neurology, Albert Einstein College of Medicine, Bronx, NY 10461, USA
Eur J Paediatr Neurol 5:225-42. 2001.... - Adult onset pigmentary orthochromatic leukodystrophy with ovarian dysgenesisJ Verghese
Department of Neurology, Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, NY 10461, USA
Eur J Neurol 9:663-70. 2002..POLD is a rare cause of adult-onset leukodystrophy presenting with dementia. Ovarian dysgenesis is extremely rare in the absence of demonstrable chromosomal abnormalities and extends the clinical spectrum of POLD... - Auditory neuropathy: a biologically inappropriate label unless acoustic nerve involvement is documentedIsabelle Rapin
Saul R Korey Department of Neurology, Albert Einstein College of Medicine, Bronx, New York, USA
J Am Acad Audiol 17:147-50. 2006 - Joubert syndrome: monozygotic twins with discordant phenotypesH R Raynes
Department of Neurology, Jacobi and Montefiore Medical Centers, Albert Einstein College of Medicine of Yeshiva University, Bronx, NY 10467, USA
J Child Neurol 14:649-54; discussion 669-72 discussio. 1999..Phenotypic differences between the twins could be attributable to postzygotic unequal division of the inner cell mass, unequal sharing of the venous return from a monochorionic placenta, mosaicism, or a mutation of a modifying gene... - Etiology and pathophysiology of autistic behavior: clues from two cases with an unusual variant of neuroaxonal dystrophyK M Weidenheim
Department of Pathology Neuropathology, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, New York 10467, USA
J Child Neurol 16:809-19. 2001..Neuroaxonal dystrophy should be included in the list of diseases that may be found in persons with autism... - Clinical characteristics of language regression in childrenSy Wilson
Saul R Korey Department of Neurology, Albert Einstein College of Medicine, Bronx, NY 10461, USA
Dev Med Child Neurol 45:508-14. 2003..Improvement was more likely in the 49% who were entirely developmentally normal before the regression. We conclude that language regression in childhood is a serious disorder with significant long-term morbidity... - Epileptiform EEG abnormalities in children with language regressionK A McVicar
Department of Neurology, The Comprehensive Epilepsy Management Center, Montefiore Medical Center, The Albert Einstein College of Medicine, Bronx, NY, USA
Neurology 65:129-31. 2005..002) and also a higher rate of clinical seizures (33% vs 8%, p < 0.001). EEG abnormalities in the LR only group were also more prominent. This suggests two subtypes of language regression... - Motor stereotypies in children with autism and other developmental disordersSylvie Goldman
Saul R Korey Department of Neurology and Rose F Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, NY 10461, USA
Dev Med Child Neurol 51:30-8. 2009..Stereotypies are environmentally modulated movement disorders, some highly suggestive, but not pathognomonic, of autism. Their underlying brain basis and genetic correlates need investigation... - Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegenerationKaren M Weidenheim
Department of Pathology, Albert Einstein College of Medicine, Bronx, NY, United States
Mech Ageing Dev 130:619-36. 2009..Understanding the genetics, biochemical, and cellular pathophysiology of these disorders remains fragmentary... - The autistic-spectrum disordersIsabelle Rapin
Albert Einstein College of Medicine, Bronx, NY 10461, USA
N Engl J Med 347:302-3. 2002 - Convulsing toward the pathophysiology of autismRoberto Tuchman
Department of Neurology, University of Miami, Miami Children s Hospital, Dan Marino Center, 2900 South Commerce Parkway, Weston, FL, USA
Brain Dev 31:95-103. 2009..The autism-epilepsy phenotype provides a novel model to the study of interventions that may have a positive modulating effects on social cognitive outcome... - Epilepsy in autismRoberto Tuchman
Miami Children s Hospital, Dan Marino Center, Department of Neurology, Weston, FL 33331, USA
Lancet Neurol 1:352-8. 2002..There is no evidence-based treatment recommendation for individuals with autism, regression, and subclinical epilepsy. Double-blind studies with sufficient power to resolve this issue are urgently needed... - Contribution of child neurology to the investigation and care of children with developmental disordersIsabelle Rapin
Albert Einstein College of Medicine, Bronx, New York 10461, USA
Pediatr Neurol 29:374-5. 2003 - Frequency of gastrointestinal symptoms in children with autistic spectrum disorders and association with family history of autoimmune diseaseMaria Valicenti-McDermott
Children s Evaluation and Rehabilitation Center, Bronx, New York 10461, USA
J Dev Behav Pediatr 27:S128-36. 2006..Children with ASD have a higher rate of GI symptoms than children with either typical development or other DDs. In this study, there was no association between a family history of autoimmune disease and GI symptoms in children with ASD... - The genetics of autismRebecca Muhle
Class of 2004, Albert Einstein College of Medicine, Bronx, New York 10461, USA
Pediatrics 113:e472-86. 2004..Future clinically useful insights and potential medications depend on identifying these genes and elucidating the influences of their products on brain development and physiology... - Value and limitations of preschool cognitive tests, with an emphasis on longitudinal study of children on the autistic spectrumIsabelle Rapin
Brain Dev 25:546-8. 2003 - Legitimacy of comparing fragile X with autism questionedIsabelle Rapin
J Autism Dev Disord 32:60-1. 2002 - Sensorimotor performance in school-age children with autism, developmental language disorder, or low IQDavid E Mandelbaum
Department of Clinical Neurosciences, Brown Medical School, Providence, RI, USA
Dev Med Child Neurol 48:33-9. 2006..Inability/unwillingness to perform tasks was much more frequent in LoAD than LoIQ children...