violeta s . zalau
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Neurological aspects in
Prader Willi Syndrom
Violeta Stan Md. PhD
University of Medicine and Pharmacy V Babes - TimisoaraEmergency Childrens Hospital Louis Turcanu - Timisoara
The 2nd Eastern European Conference on Prader Willi Sindrom
29- 30 octombrie 2010, Zalu
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Children with PWS show an unusual
cognitive profile
They are often strong in
visual organization andperception, including reading
and vocabulary, but their
spoken language (sometimes
affected by hypernasality) is
generally poorer than their
comprehension. A marked skillin completingjigsaw puzzles
has been noted.
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Auditory information
Auditory information
processing andsequential processing are
relatively poor, as are
arithmetic and writing
skills, visual and auditoryshort term memory and
auditory attention span.
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Brain Developmental Abnormalities in Prader-Willi
Syndrome Detected by Diffusion Tensor Imaging
Representative examples of ROIsdetermination by 3DAC images
3DAC imaging, capable of showing fiber tractorientation in a three-dimensionalschema, in which the colors red, green,
and blue correspond with the horizontal,vertical, and perpendicular direction,were used to enhance structuralidentification.
Abbreviations: PWSPrader-Willi syndrome DTIdiffusion tensorimaging Trtrace value FAfractional anisotropy ROIregionofinterest PLICposterior limb ofinternal capsule CCcorpuscallosum 3DACthree-dimensional anisotropy contrast
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Differences in diffusivity characteristics between
the controls and the patients with PWS
In PWS patients, Trs are foundto be significantly higher in theleft frontal white matter and thedorsomedial thalamus,
whereas FAs are significantlyreduced in the posterior limb ofthe internal capsule bilaterally,the right frontal white matter,and the splenium of the CC
Brain Developmental Abnormalities inPrader-Willi Syndrome Detected byDiffusion Tensor Imaging
Kenichi Yamada, MDa, Hitoshi Matsuzawa, MD, PhDa, Makoto
Uchiyama, MD, PhDb, Ingrid L. Kwee, MDc, Tsutomu Nakada, MD,PhDa,c
PEDIATRICS Vol. 118 No. 2 August 2006, pp. e442-e448(doi:10.1542/peds.2006-0637)
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Functional bases for clinically psychiatric
manifestations in PWS
The fronto-thalamic regions,in which higher Tr wereobserved, have a closeconnection from the limbic
system to the prefrontal andcingulate cortex.It has beensuggested thatabnormalities within theseregions could result inpsychiatric dysfunction,including personality
change or bipolar disorderand may be responsible forthe clinically observedbehavioral phenotype
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Motor dysfunction
DTI studies have shown
that reduced FA reflects
altered microstructure inPLIC and correlates with
the level of motor
disability in motor neuron
disease ,responsible for
"central hypotonia" in
PWS
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The brain developmental abnormality of
interhemispheric connectivity in PWS.
Reduced FA in frontal white matter andposterior callosal connection indicatedisintegrity in these regions, importantfor connecting cortices responsible forcognitive, visual, and spatial-perceptional function.
CC is one of the crucial structures indevelopmental disorders, such asautism, in which structural difference
has been reported. Its disruption resultsin the disturbance of executivefunctioning that requires effectiveinterhemispheric information transfer.
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The superiority in spatial-perceptional
organization
Considering the
psychological profiles as
the superiority in spatial-
perceptional organizationand the inferiority in
short-term memory on
visual-perceptional
contents, observed in
patients with PWS theintervention can be
targeted early in life.
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Guidelines for early intervention
1) Children who do not talk at all;
2) Children who may be slow learning to talk;
3) Children who may talk, but it is difficult tounderstand their speech;
4) Children who are at risk for communication
difficulties for a variety of reasons.
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Steps for early intervention
The early intervention presented involves 5 steps:
1) Identify meaningful contexts for communication;
2) Provide effective means to communicate;
3) Select appropriate vocabulary;4) Set up the environment to support communication;
5) Use appropriate interaction strategies to supportcommunication.
The material offers illustrated procedures for each stepusing photographs and video examples.
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Thanks!
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