Neurological aspects in

Prader Willi Syndrom

Violeta Stan Md. PhD

University of Medicine and Pharmacy “V Babes” - Timisoara

Emergency Children’s Hospital “Louis Turcanu” - Timisoara

The 2nd Eastern European Conference on Prader Willi Sindrom

29- 30 octombrie 2010, Zalău
 Children with PWS show an unusual
cognitive profile

 They are often strong in

visual organization and
perception, including reading
and vocabulary, but their
spoken language (sometimes
affected by hypernasality) is
generally poorer than their
comprehension. A marked skill
in completing jigsaw puzzles
has been noted.
 Auditory information

Auditory information
processing and
sequential processing are
relatively poor, as are
arithmetic and writing
skills, visual and auditory
short term memory and
auditory attention span.
Brain Developmental Abnormalities in Prader-Willi
Syndrome Detected by Diffusion Tensor Imaging

Representative examples of ROIs

determination by 3DAC images

3DAC imaging, capable of showing fiber tract

orientation in a three-dimensional
schema, in which the colors red, green,
and blue correspond with the horizontal,
vertical, and perpendicular direction,
were used to enhance structural
identification.

Abbreviations: PWS—Prader-Willi syndrome • DTI—diffusion tensor

imaging • Tr—trace value • FA—fractional anisotropy • ROI—region
of interest • PLIC—posterior limb of internal capsule • CC—corpus
callosum • 3DAC—three-dimensional anisotropy contrast
Differences in diffusivity characteristics between
the controls and the patients with PWS

In PWS patients, Trs are found

to be significantly higher in the
left frontal white matter and the
dorsomedial thalamus,
whereas FAs are significantly
reduced in the posterior limb of
the internal capsule bilaterally,
the right frontal white matter,
and the splenium of the CC

Brain Developmental Abnormalities in

Prader-Willi Syndrome Detected by
Diffusion 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)
 Functional bases for clinically psychiatric
manifestations in PWS

 The fronto-thalamic regions,

in which higher Tr were
observed, have a close
connection from the limbic
system to the prefrontal and
cingulate cortex.It has been
suggested that
abnormalities within these
regions could result in
psychiatric dysfunction,
including personality
change or bipolar disorder
and may be responsible for
the clinically observed
behavioral phenotype
 Motor dysfunction

DTI studies have shown

that reduced FA reflects
altered microstructure in
PLIC and correlates with
the level of motor
disability in motor neuron
disease ,responsible for
"central hypotonia" in
PWS
 The brain developmental abnormality of
interhemispheric connectivity in PWS.

 Reduced FA in frontal white matter and

posterior callosal connection indicate
disintegrity in these regions, important
for connecting cortices responsible for
cognitive, visual, and spatial-
perceptional function.

 CC is one of the crucial structures in

developmental disorders, such as
autism, in which structural difference
has been reported. Its disruption results
in the disturbance of executive
functioning that requires effective
interhemispheric information transfer.
 The superiority in spatial-perceptional
organization

 Considering the
psychological profiles as
the superiority in spatial-
perceptional organization
and the inferiority in
short-term memory on
visual-perceptional
contents, observed in
patients with PWS the
intervention can be
targeted early in life.
 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 to
understand their speech;
 4) Children who are at risk for communication
difficulties for a variety of reasons.
 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 support
communication.
The material offers illustrated procedures for each step
using photographs and video examples.
Thanks!