From the Medical Literature - January 1999

Record 1

  Family contexts, parental behaviour, and personality profiles of children
and adolescents with Prader-Willi, fragile-X, or Williams syndrome.
  van Lieshout CF; De Meyer RE; Curfs LM; Fryns JP
  University of Nijmegen, The Netherlands. [email protected]
  J  Child Psychol Psychiatry (ENGLAND)   Jul 1998,  39 (5) p699-710,  ISSN
0021-9630 
  Languages: ENGLISH
  Document type: JOURNAL ARTICLE

  The  personality  profiles  for  youths  with Prader-Willi, fragile-X, or
Williams  syndrome  were compared to three matched groups attending regular
schools. Using the California Child Q-Set (CCQ), both of the parents of the
39 children with Prader-Willi syndrome, 32 boys with fragile-X syndrome, 28
children  with  Williams  syndrome,  and  children in the comparison groups
provided  independent  personality  descriptions  in  terms of the Big Five
personality  factors  of  Extraversion,  Agreeableness,  Conscientiousness,
Emotional   Stability,   and   Openness,  along  with  Motor  Activity  and
Irritability.  Specific  personality  phenotypes  for  each  of  the  three
syndrome  groups  were  found  to  be  differentially  related  to parental
behaviours  (i.e.  control and anger) and family contexts (i.e. experienced
family stress, marital conflict, and parental consistency).

Record 2

  Hemizygous  deletion  of  the  HPC-1/syntaxin 1A gene (STX1A) in patients
with Williams syndrome.
  Nakayama  T;  Matsuoka  R;  Kimura  M;  Hirota H; Mikoshiba K; Shimizu Y;
Shimizu N; Akagawa K
  Department of Physiology, Kyorin University School of Medicine, Institute
of Medical Science, The University of Tokyo, Tokyo, Japan.
  Cytogenet   Cell   Genet (SWITZERLAND)   1998,  82   (1-2)  p49-51,  ISSN
0301-0171 
  Languages: ENGLISH
  Document type: JOURNAL ARTICLE

  HPC-1/syntaxin  1A  is a membrane protein that plays an important role in
exocytosis  of  neurotransmitters from neuronal cells. We previously mapped
the  human  HPC-1/syntaxin  1A  gene (STX1A) to chromosome 7q11.2, which is
within  the Williams syndrome (WS) region. Here, we performed FISH analysis
on  46  patients  with WS to examine the relationship between STX1A and WS.
Our  results  showed a hemizygous deletion of the HPC-1/syntaxin 1A gene in
each  patient,  suggesting  that  the  neurological  symptoms  of WS may be
related to the hemizygous deletion of STX1A.

Record 3

  Acquired coarctation of the aorta in William's syndrome.
  Dhillon R; Reddy TD; Redington A
  Department of Paediatric Cardiology, Royal Brompton Hospital, London, UK.
  Heart (ENGLAND)   Aug 1998,  80 (2) p205-6,  ISSN 1355-6037
  Languages: ENGLISH
  Document type: JOURNAL ARTICLE

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