PMID- 15730896
OWN - NLM
STAT- MEDLINE
DCOM- 20050503
LR  - 20061115
IS  - 0887-8994 (Print)
IS  - 0887-8994 (Linking)
VI  - 32
IP  - 3
DP  - 2005 Mar
TI  - Williams syndrome: pediatric, neurologic, and cognitive development.
PG  - 166-72
AB  - This study examines the developmental history of 32 Williams syndrome patients, 
      positive to the fluorescence in situ hybridization (FISH) test. The information 
      is intended to provide help for early diagnosis and appropriate stimulation of 
      these patients. In the sample reported here, only about half of the patients 
      referred with presumptive diagnosis were in fact FISH+, indicating that facial 
      dysmorphism may not be the most reliable sign for diagnosis. Initial pediatric 
      signs are developmental delay and nocturnal irritability. In consultation, facial 
      dysmorphies and heart murmur are detected. There is also low birth weight, 
      failure to thrive, unsuccessful breastfeeding, and gastroesophageal reflux. All 
      these symptoms are strongly suggestive of Williams syndrome. Subsequent steps 
      consist of cardiologic studies. Our results indicate that the triad of symptoms 
      consisting of infantile hypercalcemia, dysmorphic facies, and supravalvular 
      aortic stenosis, which until recently was considered fundamental for Williams 
      syndrome diagnosis, is not usually present and does not lead to an early 
      diagnosis. Cognitively, these children are characterized by hypersociability, 
      hyperacusia, deficient visuoconstructive abilities, attentional deficit and 
      hyperactivity, and in some cases, spontaneous musical interests. There are no 
      special verbal skills. The results of this study indicate that the concept of 
      Williams syndrome patients as language- and musically-gifted is not fully 
      accurate.
FAU - Carrasco, Ximena
AU  - Carrasco X
AD  - Instituto de Ciencias Biomedicas, Facultad de Medicina, Universidad de Chile & 
      Servicio de Neurologia, Hospital de ninos Luis Calvo Mackenna, Santiago, Chile.
FAU - Castillo, Silvia
AU  - Castillo S
FAU - Aravena, Teresa
AU  - Aravena T
FAU - Rothhammer, Paula
AU  - Rothhammer P
FAU - Aboitiz, Francisco
AU  - Aboitiz F
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Pediatr Neurol
JT  - Pediatric neurology
JID - 8508183
SB  - IM
MH  - Adolescent
MH  - Brain Diseases/etiology
MH  - Child
MH  - Child Behavior Disorders/*etiology
MH  - Child, Preschool
MH  - Cognition Disorders/*etiology
MH  - Developmental Disabilities/*etiology
MH  - *Facies
MH  - Female
MH  - Humans
MH  - Infant
MH  - Language Development Disorders/etiology
MH  - Male
MH  - Music
MH  - Williams Syndrome/*complications/physiopathology/*psychology
EDAT- 2005/02/26 09:00
MHDA- 2005/05/04 09:00
CRDT- 2005/02/26 09:00
PHST- 2004/06/03 00:00 [received]
PHST- 2004/09/30 00:00 [accepted]
PHST- 2005/02/26 09:00 [pubmed]
PHST- 2005/05/04 09:00 [medline]
PHST- 2005/02/26 09:00 [entrez]
AID - S0887-8994(04)00508-9 [pii]
AID - 10.1016/j.pediatrneurol.2004.09.013 [doi]
PST - ppublish
SO  - Pediatr Neurol. 2005 Mar;32(3):166-72. doi: 10.1016/j.pediatrneurol.2004.09.013.