PMID- 20729760
OWN - NLM
STAT- MEDLINE
DCOM- 20101229
LR  - 20211020
IS  - 1536-7312 (Electronic)
IS  - 0196-206X (Print)
IS  - 0196-206X (Linking)
VI  - 31
IP  - 7
DP  - 2010 Sep
TI  - A neurodevelopmental survey of Angelman syndrome with genotype-phenotype 
      correlations.
PG  - 592-601
LID - 10.1097/DBP.0b013e3181ee408e [doi]
AB  - OBJECTIVE: Angelman syndrome (AS) is a neurodevelopmental disorder caused by a 
      deletion on chromosome 15, uniparental disomy, imprinting defect, or UBE3A 
      mutation. It is characterized by intellectual disability with minimal speech and 
      certain behavioral characteristics. We used standardized measures to characterize 
      the developmental profile and to analyze genotype-phenotype correlations in AS. 
      METHOD: The study population consisted of 92 children, between 5 months and 5 
      years of age, enrolled in a Natural History Study. Each participant was evaluated 
      using the Bayley Scales of Infant and Toddler Development, Third Edition 
      (BSID-III), the Vineland Adaptive Behavior Scales, Second Edition (VABS-II), and 
      the Aberrant Behavior Checklist. RESULTS: Seventy-four percent had a deletion and 
      26% had uniparental disomy, an imprinting defect or a UBE3A mutation 
      ("non-deletion"). The mean +/- standard deviation BSID-III cognitive scale 
      developmental quotient (DQ) was 40.5 +/- 15.5. Participants with deletions were 
      more developmentally delayed than the non-deletion participants in all BSID-III 
      domains except in expressive language skills. The cognitive DQ was higher than 
      the DQ in each of the other domains, and the receptive language DQ was higher 
      than the expressive language DQ. In the [ corrected] VABS-II, deletion 
      participants had weaker motor and language skills than the non-deletion 
      participants. CONCLUSION: Children with AS have a distinct developmental and 
      behavioral profile; their cognitive skills are stronger than their language and 
      motor skills, and their receptive language skills are stronger than expressive 
      language skills. Developmental outcomes are associated with genotype, with 
      deletion patients having worse outcomes than non-deletion patients.
FAU - Gentile, Jennifer K
AU  - Gentile JK
AD  - NIH Rare Diseases Clinical Research Network-Angelman, Rett, & Prader-Willi 
      Syndromes Consortium, Boston, MA, USA.
FAU - Tan, Wen-Hann
AU  - Tan WH
FAU - Horowitz, Lucia T
AU  - Horowitz LT
FAU - Bacino, Carlos A
AU  - Bacino CA
FAU - Skinner, Steven A
AU  - Skinner SA
FAU - Barbieri-Welge, Rene
AU  - Barbieri-Welge R
FAU - Bauer-Carlin, Astrid
AU  - Bauer-Carlin A
FAU - Beaudet, Arthur L
AU  - Beaudet AL
FAU - Bichell, Terry Jo
AU  - Bichell TJ
FAU - Lee, Hye-Seung
AU  - Lee HS
FAU - Sahoo, Trilochan
AU  - Sahoo T
FAU - Waisbren, Susan E
AU  - Waisbren SE
FAU - Bird, Lynne M
AU  - Bird LM
FAU - Peters, Sarika U
AU  - Peters SU
LA  - eng
GR  - P30 HD015052-31/HD/NICHD NIH HHS/United States
GR  - P30 HD015052/HD/NICHD NIH HHS/United States
GR  - U54 HD061222/HD/NICHD NIH HHS/United States
GR  - U54 HD061222-08/HD/NICHD NIH HHS/United States
GR  - U54 RR019478/RR/NCRR NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Dev Behav Pediatr
JT  - Journal of developmental and behavioral pediatrics : JDBP
JID - 8006933
RN  - EC 2.3.2.26 (UBE3A protein, human)
RN  - EC 2.3.2.27 (Ubiquitin-Protein Ligases)
SB  - IM
EIN - J Dev Behav Pediatr. 2011 Apr;32(3):267
MH  - Angelman Syndrome/*genetics/*psychology
MH  - Child Language
MH  - Child, Preschool
MH  - Chromosomes, Human, Pair 15/*genetics
MH  - Cognition
MH  - Female
MH  - Gene Deletion
MH  - Genetic Association Studies
MH  - Genetic Predisposition to Disease
MH  - Genomic Imprinting
MH  - Genotype
MH  - Humans
MH  - Infant
MH  - Male
MH  - Motor Skills
MH  - Phenotype
MH  - Ubiquitin-Protein Ligases/genetics
MH  - Uniparental Disomy
PMC - PMC2997715
MID - NIHMS252904
EDAT- 2010/08/24 06:00
MHDA- 2010/12/30 06:00
PMCR- 2011/09/01
CRDT- 2010/08/24 06:00
PHST- 2010/08/24 06:00 [entrez]
PHST- 2010/08/24 06:00 [pubmed]
PHST- 2010/12/30 06:00 [medline]
PHST- 2011/09/01 00:00 [pmc-release]
AID - 10.1097/DBP.0b013e3181ee408e [doi]
PST - ppublish
SO  - J Dev Behav Pediatr. 2010 Sep;31(7):592-601. doi: 10.1097/DBP.0b013e3181ee408e.