PMID- 26219744
OWN - NLM
STAT- MEDLINE
DCOM- 20160829
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 167A
IP  - 11
DP  - 2015 Nov
TI  - The neurobehavioral and molecular phenotype of Angelman Syndrome.
PG  - 2623-8
LID - 10.1002/ajmg.a.37254 [doi]
AB  - Angelman Syndrome (AS) is a rare neurodevelopmental disorder associated with 
      developmental delay, speech impairment, gait ataxia, and a unique behavioral 
      profile. AS is caused by loss of maternal expression of the paternally imprinted 
      UBE3A gene. In this study we aim to contribute to understanding of the 
      neurobehavioral phenotype of AS with particular focus on the neuropsychiatric 
      presentation of the disorder. We also undertake initial exploration of 
      brain-derived neurotrophic factor (BDNF) plasma levels in AS. Twelve individuals 
      ages 3 years or older with a confirmed genetic diagnosis of AS underwent detailed 
      medical history, phenotypic characterization, and BDNF plasma sampling. The 
      results of this study demonstrate that individuals with AS suffer from 
      significant developmental delay, impaired adaptive behavior, and sleep 
      disruption. Additionally, hyperactivity/impulsivity appears to be the primary 
      behavioral domain noted in these individuals. The majority of individuals in this 
      project met criteria for autism spectrum disorder on the Autism Diagnostic 
      Observation Schedule (ADOS); however, a negative correlation was noted between 
      ADOS score and developmental age. BDNF plasma levels in AS individuals were 
      significantly elevated compared to neurotypical controls. This is the first 
      report of abnormal BDNF levels in AS, and one that necessitates larger future 
      studies. The results provide a clue to understanding abnormal neuronal 
      development in AS and may help guide future AS research.
CI  - (c) 2015 Wiley Periodicals, Inc.
FAU - Wink, Logan K
AU  - Wink LK
AD  - Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
FAU - Fitzpatrick, Sarah
AU  - Fitzpatrick S
AD  - Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
FAU - Shaffer, Rebecca
AU  - Shaffer R
AD  - Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
FAU - Melnyk, Sophia
AU  - Melnyk S
AD  - Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
FAU - Begtrup, Amber H
AU  - Begtrup AH
AD  - Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
FAU - Fox, Emma
AU  - Fox E
AD  - Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
FAU - Schaefer, Tori L
AU  - Schaefer TL
AD  - Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
FAU - Mathieu-Frasier, Lauren
AU  - Mathieu-Frasier L
AD  - Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
FAU - Ray, Balmiki
AU  - Ray B
AD  - Indiana University School of Medicine, Indianapolis, Indiana.
FAU - Lahiri, Debomoy
AU  - Lahiri D
AD  - Indiana University School of Medicine, Indianapolis, Indiana.
FAU - Horn, Paul A
AU  - Horn PA
AD  - Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
FAU - Erickson, Craig A
AU  - Erickson CA
AD  - Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
LA  - eng
PT  - Journal Article
DEP - 20150729
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (Brain-Derived Neurotrophic Factor)
RN  - 7171WSG8A2 (BDNF protein, human)
SB  - IM
MH  - Angelman Syndrome/blood/*genetics
MH  - *Behavior
MH  - Brain/*pathology
MH  - Brain-Derived Neurotrophic Factor/blood
MH  - Case-Control Studies
MH  - Child, Preschool
MH  - Humans
MH  - Infant
MH  - Phenotype
OTO - NOTNLM
OT  - BDNF
OT  - angelman Syndrome
OT  - brain-derived neurotrophic factor
EDAT- 2015/07/30 06:00
MHDA- 2016/08/30 06:00
CRDT- 2015/07/30 06:00
PHST- 2014/10/28 00:00 [received]
PHST- 2015/07/04 00:00 [accepted]
PHST- 2015/07/30 06:00 [entrez]
PHST- 2015/07/30 06:00 [pubmed]
PHST- 2016/08/30 06:00 [medline]
AID - 10.1002/ajmg.a.37254 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2015 Nov;167A(11):2623-8. doi: 10.1002/ajmg.a.37254. Epub 2015 
      Jul 29.