Posted by: Chris Maloney | March 18, 2012

Williams Syndrome: What Is It, and What Can A Parent Do?

An overview of the structure of DNA.

Image via Wikipedia

Williams Syndrome is back in the news.  There was a nice 20/20 piece on it a while back.  Every time someone in the networks writes about it, the illness gets more funding.

So when I saw the following:

Williams Syndrome, Their Child’s Disorder, Mobilized the Kievs – NYTimes.com.

I read it and thought, “here’s my chance to talk about what parents can do for these children.”

In terms of conventional treatment, Williams is a genetic disorder.  It involves a genetic deletion and all treatment is supportive rather than curative.  But even a cursory look at Wikipedia indicates that the initial estimate of a rare one in 20,000 births has been dropped to less rare one in 10,000 because over half those affected are never diagnosed.  In other words, they have the genetic deletion, but do not exhibit many of the symptoms associated with Williams Syndrome.

So what makes the difference?  What other genes or aspects of the child’s environment affect how the child grows and develops?  In looking at Williams Syndrome researchers see continuity of the genetic affects, but with significant variations.

When looking strictly at intelligence, a great deal of what we consider intelligence comes from the ability to learn effectively.  The graphic example of Helen Keller indicates just how fundamental a good teaching method can be to the relative intelligence of a child.  With Williams Syndrome children it is critical to assess their ability to learn and to focus their education within the framework of how they learn best.

Beyond focusing on maximizing cognitive stimulation, there have to be dozens of different nutritional and lifestyle interventions that either positively or negatively affect Williams Syndrome children.  Recently researchers have isolated the specific Williams syndrome transcription factor, which is intimately involved with Vitamin D and causes many of the Williams traits, including the high calcium levels in childhood.  Working closely with research doctors, it should be possible to monitor the levels of transcription factor based on various interventions and minimize many of the more deadly aspects of Williams Syndrome.

Dev Sci. 2011 Nov;14(6):1471-8. doi: 10.1111/j.1467-7687.2011.01114.x.

Source

Centre for Brain and Cognitive Development, Department of Psychological Sciences, Birkbeck, UK. a.ronald@bbk.ac.uk

Abstract

This selective review considers findings in genetic research that have shed light on how genes operate across development. We will address the question of whether the child is ‘father of the Man’ from a genetic perspective. In other words, do the same genetic influences affect the same traits across development? Using a ‘taster menu’ approach and prioritizing newer findings on cognitive and behavioral traits, examples from the following genetic disciplines will be discussed: (a) developmental quantitative genetics (such as longitudinal twin studies), (b) neurodevelopmental genetic syndromes with known genetic causes (such as Williams syndrome), (c) developmental candidate gene studies (such as those that link infant and adult populations), (d) developmental genome-wide association studies (GWAS), and (e) DNA resequencing. Evidence presented here suggests that there is considerable genetic stability of cognitive and behavioral traits across development, but there is also evidence for genetic change. Quantitative genetic studies have a long history of assessing genetic continuity and change across development. It is now time for the newer, more technology-enabled fields such as GWAS and DNA resequencing also to take on board the dynamic nature of human behavior.

2011 Blackwell Publishing Ltd.

PMID: 22010904
Prog Brain Res. 2011;189:261-83.

Source

Visual Development Unit, University College London, London, UK. j.atkinson@ucl.ac.uk

Abstract

Visual information is believed to be processed through two distinct, yet interacting cortical streams. The ventral stream performs the computations needed for recognition of objects and faces (“what” and “who”?) and the dorsal stream the computations for registering spatial relationships and for controlling visually guided actions (“where” and “how”?). We initially proposed a model of spatial deficits in Williams syndrome (WS) in which visual abilities subserved by the ventral stream, such as face recognition, are relatively well developed (although not necessarily in exactly the same way as in typical development), whereas dorsal-stream functions, such as visuospatial actions, are markedly impaired. Since these initial findings in WS, deficits of motion coherence sensitivity, a dorsal-stream function has been found in other genetic disorders such as Fragile X and autism, and as a consequence of perinatal events (in hemiplegia, perinatal brain anomalies following very premature birth), leading to the proposal of a general “dorsal-stream vulnerability” in many different conditions of abnormal human development. In addition, dorsal-stream systems provide information used in tasks of visuospatial memory and locomotor planning, and these systems are closely coupled to networks for attentional control. We and several other research groups have previously shown deficits of frontal and parietal lobe function in WS individuals for specific attention tasks [e.g., Atkinson, J., Braddick, O., Anker, S., Curran, W., & Andrew, R. (2003). Neurobiological models of visuospatial cognition in children with Williams Syndrome: Measures of dorsal-stream and frontal function. Developmental Neuropsychology, 23(1/2), 141-174.]. We have used the Test of Everyday Attention for Children (TEA-Ch) which aims to attempt to separate components of attention with distinct brain networks (selective attention, sustained attention, and attention control-executive function) testing a group of older children with WS, but this test battery is too demanding for many children and adults with WS. Consequently, we have devised a new set of tests of attention, the Early Childhood Attention Battery (ECAB). This uses similar principles to the TEA-Ch, but adapted for mental ages younger than 6 years. The ECAB shows a distinctive attention profile for WS individuals relative to their overall cognitive development, with relative strength in tasks of sustained attention and poorer performance on tasks of selective attention and executive control. These profiles, and the characteristic developmental courses, also show differences between children with Down’s syndrome and WS. This chapter briefly reviews new research findings on WS in these areas, relating the development of brain systems in WS to evidence from neuroimaging in typically developing infants, children born very preterm, and normal adults. The hypothesis of “dorsal-stream(s) vulnerability” which will be discussed includes a number of interlinked brain networks, subserving not only global visual processing and formulation of visuomotor actions but interlinked networks of attention.

Copyright © 2011 Elsevier B.V. All rights reserved.

PMID: 21489394
Endocr J. 2011;58(2):77-85. Epub  2011 Jan 14.

Source

Institute of Molecular and Cellular Biosciences, University of Tokyo, Tokyo, Japan. hirokita-tky@umin.ac.jp

Abstract

A human multi-protein complex (WINAC), composed of SWI/SNF components and DNA replication-related factors, that directly interacts with the vitamin D receptor (VDR) through the Williams syndrome transcription factor (WSTF), was identified with an ATP-dependent chromatin remodeling activity. This novel ATP-dependent chromatin remodeling complex facilitates VDR-mediated transrepression as well as transactivation with its ATP-dependent chromatin remodeling activity and promoter targeting property for the activator to access to the DNA. It also suggested that in this complex, WSTF serves as a signaling sensor to receive intra-cellular singalings to switch the activity of WINAC as well as WICH, another ATP-dependent chromatin remodeling complex containing hSNF2h. By making WSTF-deficient mice, some of the heart defects as well as abnormal calcium metabolism observed in Williams syndrome are attributed to the abnormal chromatin remodeling activity caused by WSTF deficiency. Thus, we would propose to designate Williams syndrome as an epigenome-regulator disease.

PMID: 21242649
[PubMed – indexed for MEDLINE]
Free full

Responses

  1. […] and to focus their education within the framework of how they learn best. Beyond focusing … williams syndrome – Google Blog Search Tagged with: Parent • Syndrome • Williams  Share → (function(d, s, id) { […]

  2. I would love to see a comprehensive support program for Williams Syndrome the same way we have it for autistic spectrum children.

  3. Interesting post! Although your incidence statistics don’t quite add up: an incidence estimate of 1/20,000 “dropping” to 1/10,000 seems backwards. A 1/10,000 incidence is higher than 1/20,000, not lower.

  4. Thanks for the correction! I agree. But if you look at the way I wrote it, saying the numbers increased will make it incomprehensible to people unfamiliar with statistics. So I corrected it to more rare dropping down to less rare. Yes, I know the numbers are increasing, but I’m trying to point out that something is more common and less rare.

  5. Yep. But it sounds funny. I corrected it to drop from more rare to less rare.

  6. […] Williams Syndrome: What Is It, and What Can A Parent Do? […]

  7. […] Williams Syndrome: What Is It, and What Can A Parent Do? […]


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