title: Cohort study of neurocognitive functioning and adaptive behaviour in children and adolescents with Niemann-Pick Disease type C1.
abstract: OBJECTIVE
  To describe the neurocognitive and adaptive behavior profile of children and adolescents with Niemann-Pick Disease type C1 (NPC1), a rare genetic disease that frequently presents in childhood, with variable onset and symptom complex involving neurodegeneration.
  
  
  METHODS
  Thirty-eight participants (20 males, 18 females; mean age 8y 10mo, SD 4y 8mo, range 1-18y) with NPC1 were evaluated through a natural history protocol.
  
  
  RESULTS
  NPC1 severity was in the mild to moderate range for most participants. Cognitive scores (n=32) ranged from very low to above average; about half of the participants exhibited a clinically significant advantage of Verbal IQ over Non-verbal IQ. Adaptive behavior scores (n=21) were generally in the borderline to impaired range. Longitudinal cognitive data (n=19) suggested a pattern of decreasing scores over time. However, most participants remained at the same general level of functioning throughout the study.
  
  
  CONCLUSIONS
  This study begins to systematically describe the neurocognitive phenotype of children and adolescents with NPC1, identifying heterogeneity and decline, aiding in understanding the natural history of the disease to plan treatment studies.
authors.affiliation: Pediatrics and Developmental Neuroscience Branch, Intramural Research Program, National Institute of Mental Health, NIH, DHHS, Bethesda, MD, USA.
authors.forename: Audrey
authors.initials: A
authors.lastname: Thurm
authors.affiliation: Pediatrics and Developmental Neuroscience Branch, Intramural Research Program, National Institute of Mental Health, NIH, DHHS, Bethesda, MD, USA.
authors.forename: Cristan
authors.initials: C
authors.lastname: Farmer
authors.affiliation: Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, DHHS, Bethesda, MD, USA.
authors.forename: Nicole Yanjanin
authors.initials: NY
authors.lastname: Farhat
authors.affiliation: National Human Genome Research Institute, National Institute of Mental Health, NIH, DHHS, Bethesda, MD, USA.
authors.forename: Edythe
authors.initials: E
authors.lastname: Wiggs
authors.affiliation: Pediatrics and Developmental Neuroscience Branch, Intramural Research Program, National Institute of Mental Health, NIH, DHHS, Bethesda, MD, USA.
authors.forename: David
authors.initials: D
authors.lastname: Black
authors.affiliation: Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, DHHS, Bethesda, MD, USA.
authors.forename: Forbes D
authors.initials: FD
authors.lastname: Porter
mesh_terms: D000223:Adaptation, Psychological / Q000502:physiology*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003072:Cognition Disorders / Q000209:etiology / Q000503:physiopathology*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007360:Intelligence / Q000502:physiology*; D008297:Male; D009483:Neuropsychological Tests; D052556:Niemann-Pick Disease, Type C / Q000150:complications / Q000503:physiopathology*; D012720:Severity of Illness Index