The Findings of MR Imaging in Rett Syndrome

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Rett syndrome
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Brief Title

The Findings of MR Imaging in Rett Syndrome

Official Title

The Findings of Resting-state Functional Magnetic Resonance Imaging , Susceptibility Weighted Imaging and Diffusion Spectrum Imaging in Rett Syndrome

Brief Summary

      Introduction: Rett Syndrome is a neurodevelopmental disease that primarily affects girls.
      Clinically, patients are normal before six months to one and half years old, and then develop
      progressive severe problems with communication, learning, co-ordination and neurodevelopment,
      with loss of motor skills around the age of two. At the same time, stereotyped hand movement
      typically appears. However, some of them will improve the abilities in speech and eye gaze,
      and the repetitive hand movements may decrease after few years.

      Background / hypothesis：Preliminary evidence suggests that there are many differences in
      brain structure between Rett syndrome and normal people including cerebral volume reduction
      in both white matter and gray matter, cerebral blood flow in the frontal area, and density of
      receptors in basal ganglia. In MR imaging studies, decreases in parietal lobe gray matter
      were found, and several reductions in cortical white matter were observed by DTI. However,
      the visual related pathway- posterior corona radiata in Rett syndrome girls was normal to be
      increased in FA values. The similar result was also discovered in the superior longitudinal
      fasciculus, associated with speech, which equal to control subjects and patients with
      preserved speech (phrases and sentences).Despite this, few studies mentioned comparison with
      brain microstructure in the different stage, especially in adult patients. Therefore, our
      prospective study will be planned to figure out the specific changing pattern of brain
      structure in different stages of Rett syndrome. And the trajectory of microstructure in brain
      is going to be in accordance with the functional improvement.

      The investigators suppose that (1)there are different microstructural changes for patients
      with/without preserved mobility, verbal ability and communication skill; (2)there are a few
      specific brain microstructures changes in visual pathway; (3) there is a specific changing
      pattern of brain microstructure in different aging of Rett syndrome. To acquire more specific
      results, the investigators aim to apply conventional MRI, diffusion-spectrum imaging, and
      some clinical assessment tools like Rett syndrome -related questionnaire, SSI, PDMS-2 and
      six-minute walk test to investigate their correlation.

Detailed Description

      In this study we proposed to use conventional MR imaging, diffusion spectrum imaging(DSI),
      and susceptibility weighted imaging(SWI), to acquire the information of brain structure in
      neural tissue and the volume of blood vessels. Conventional MR imaging with 3T MR unit will
      consist of sagittal T1-weighted, axial T2 fast spin-echo, and thickness of transverse
      sections in 2.5 mm are obtained parallel to the anterior and posterior commissure line.
      Diffusion spectrum imaging(DSI), a more specific method to detects the fiber crossing of
      white matter, quantified by GFA value to investigate the tract-specific abnormalities with
      the growth trajectories and their correlations with clinical features in patients with
      RTT.DSI scans were acquired using a Siemens Tim Trio 3T scanner at NTUH. Diffusion spectrum
      imaging data were obtained in 32 channel head coil with following parameters: TE = 2.98 ms,
      TR = 2000 ms, slice per slab=208, slice thickness = 1.0mm, FoV read = 256mm, voxel
      size=2.5x2.5x2.5mm. Susceptibility weighted image(SWI), facilitated sensitivity to deposited
      hemosiderin, has improved the recognition of cerebral micro bleeds (CMB). Therefore, we plan
      to use the advancing techniques to gain the information about the multiple
      cortico-subcortical blood vessels from our patient.

      Study subjects will be recruited from OPD in NTU hospital, age range 2 to 30 years, 45
      diagnosed rett patients and 45 controls. All of the scanning will complete in NTU hospital.
      Before entering the scanning room, parents of patients will finish a questionnaire about the
      physical development in Rett syndrome, including gross motor, fine motor skills and speech
      ability. After then, DSI data are acquired at 3T MR unit and we will analysis the white
      matter data by DSI studio (http://dsi-studio.labsolver.org ) and perform the whole brain
      tracts in detail by TBAA which were reconstructed on the NTU-DSI-122 template. We will
      process and analyze the gray matter by using FreeSurfer (http://freesurfer.net) and the
      volume of cerebral micro bleeds by SWI data to find out the difference between Rett patients
      and control group. In order to obtain the results with reliability and validity, Peabody
      developmental motor scales (PDMS-2), a motor development program will be applied to assess
      the gross motor and fine motor skills objectively. PDMS-2 consists of 6 subjects: reflexes,
      stationary, locomotion, object manipulation, grasping, and visual-motor integration and can
      be used in clinical assessment and training. Finally, the brain structure data will be
      compared with the functional changes in Rett syndrome patients.

Study Type

Observational [Patient Registry]

Primary Outcome

DSI data

Secondary Outcome

 Peabody developmental motor scales (PDMS-2),

Condition

Rett Syndrome

Intervention

Rett Syndrome

Study Arms / Comparison Groups

 Rett Syndrome
Description:  Rett Syndrome is a neurodevelopmental disease that primarily affects girls. Clinically, patients are normal before six months to one and half years old, and then develop progressive severe problems with communication, learning, co-ordination and neurodevelopment, with loss of motor skills around the age of two. At the same time, stereotyped hand movement typically appears.

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status

Other

Estimated Enrollment

100

Start Date

March 2016

Completion Date

September 2017

Primary Completion Date

September 2017

Eligibility Criteria

        Inclusion Criteria:

          -  Diagnosis: Rett Syndrome

        Exclusion Criteria:

          1. Psychiatric diagnoses

          2. History of neurological impairment

          3. Neuropsychiatric conditions

          4. Clinical evidence of a genetic disorder

Gender

All

Ages

3 Years - 30 Years

Accepts Healthy Volunteers

No

Contacts

Wang Tso Lee, PhD, 886223123456, [email protected]

Location Countries

Taiwan

Location Countries

Taiwan

Administrative Informations

NCT ID

NCT02903056

Organization ID

201510011RINC

Responsible Party

Sponsor

Study Sponsor

National Taiwan University Hospital

Study Sponsor

Wang Tso Lee, PhD, Principal Investigator, NTUH

Verification Date

September 2016