violeta s . zalau

8/8/2019 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!

violeta s . zalau

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