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New Neuroimaging Research Could Change Treatment for Down Syndrome, Other Genetic Disorders

By MedImaging International staff writers
Posted on 19 Aug 2013
Cutting-edge imaging research may provide new applications in treatment of Down syndrome and other genetic disorders.

For two years, neuroscientists from the University of Utah (Salt Lake City; USA) examined the brains of 15 individuals with Down syndrome and compared their functional magnetic resonance imaging (fMRI) brain images with the brains of 15 healthy control individuals. They found significant differences in the brain images of individuals with Down syndrome—data that could change the way the disorder is treated in the future, according to Julie R. Korenberg, MD, PhD, lead investigator for the Down syndrome study and director of the University of Utah’s USTAR Center for Integrated Neurosciences and Human Behavior.

“It opens up a whole new world of possibilities for accelerating therapeutics with Down syndrome and for other developmental disorders,” Dr. Korenberg stated about the study. “Up until now, there was no functional imaging of Down syndrome and we knew we needed it. To have this team of people that are taking fundamental neuroscience and applying it to imaging—it is unprecedented.”

The research idea in itself was innovative, according to Jeff Anderson, MD, PhD, first author of the study, which was published June 2013 in the online journal NeuroImage: Clinical. “It turns out that Down syndrome, in spite of being an incredibly common disorder, has been almost completely ignored by the scientific community in terms of brain imaging,” said Dr. Anderson. “We set out to do a project where we recorded the brain function of people with Down syndrome. What we found were some pretty striking abnormalities. It looks like there is massive overconnectivity in the brains of individuals with Down syndrome. These are larger differences by an order of magnitude than we’re seeing in autism or in other disorders. In addition, we’re also seeing that there are some places in the brain that are underconnected—areas that are far apart and are part of networks in the brain where regions in a healthy brain work together to perform tasks.”

Dr. Anderson described the new findings as creating a “wiring diagram” of the Down syndrome brain. The brain consists of cells, most of which are on the brain’s surface and are networked together in different ways like a circuit. Areas on the surface of the brain are where all the action is and most of the middle of the brain is where all the wires between the cells exist. What researchers have developed with brain imaging allows them to measure quantitatively how strong “wiring” is between any two points in the brain, according to Dr. Anderson.

Researchers for the first time will now have a way to gauge how and if a specific type of therapy is having positive results for a Down syndrome patient. “One of the troubles in getting therapies to work in a disorder like Down syndrome is we don’t have a good way of testing to see if they’re working. If you can measure quantitatively what is abnormal in the brain of someone with Down syndrome, if you have a medication you think might work, you can give them a medication and after a short period of time you can, using brain imaging, see if it’s changing the abnormality,” Dr. Anderson said. “Like a lot of problems in science, the real problem is just getting something you can measure. It’s like taking a thread from a tapestry that you can hold onto and pull. Once you have the foothold, you can keep pulling and pulling and the whole picture has unraveled and you can understand what’s going on.”

The new study is part of a larger study taking place at the University of Utah. The broader study is now in its second year and funded by the US National Institute of Child Health and Developmental Disabilities. Dr. Korenberg oversaw the study, which is part of a larger mission that she leads at the Brain Institute to research the molecular genetics of mental retardation.

In the new study on Down syndrome brain imaging, researchers also compared Down syndrome patients with brain images from those diagnosed with autism and other genetic disorders. The research will clear the way for further study into the brain and genetics.

“What we can now say is that those genes on chromosome 21 alter the development and function of the brain in particular ways,” Dr. Korenberg said. “We’re beginning to not just sort through, but to unravel the mysteries of how the brain develops and how the brain functions and what the genetic basis of that function is. And that’s very exciting.”

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88 (!!!!! 1523.9715576172): SELECT fid FROM jos_deeppockets_archive WHERE cat=10 AND id=294747787 AND (type='deeppockets_item' OR type='deeppockets_item_link') AND published='1' LIMIT 1
89 (330.92498779297): SELECT id,name,title FROM jos_deeppockets WHERE cat=10 AND TYPE='file_folder' AND published=1 AND id != 294743300 AND id != 294743301 AND id != 294743302 AND id != 294743303 AND id != 294743304 AND id != 294743305 AND id != 294743306 AND id != 294743307 AND id != 294743308 AND id != 294743309 AND id != 294743310 AND metakey != 'aacc' ORDER BY `ordering`
90 (52.928924560547): SELECT show_live FROM jos_com_show_setting LIMIT 1
91 (30.994415283203): SELECT show_live FROM jos_com_show_setting LIMIT 1
92 (26.941299438477): SELECT show_live FROM jos_com_show_setting LIMIT 1
93 (26.941299438477): SELECT show_live FROM jos_com_show_setting LIMIT 1
94 (32.901763916016): SELECT show_live FROM jos_com_show_setting LIMIT 1
95 (26.941299438477): SELECT show_live FROM jos_com_show_setting LIMIT 1
96 (25.98762512207): SELECT show_live FROM jos_com_show_setting LIMIT 1
97 (25.98762512207): SELECT show_live FROM jos_com_show_setting LIMIT 1
98 (34.093856811523): SELECT show_live FROM jos_com_show_setting LIMIT 1
99 (!!!!! 1962.9001617432): SELECT show_live FROM jos_com_show_setting LIMIT 1
100 (54.121017456055): SELECT show_live FROM jos_com_show_setting LIMIT 1
101 (32.901763916016): SELECT show_live FROM jos_com_show_setting LIMIT 1
102 (30.994415283203): SELECT show_live FROM jos_com_show_setting LIMIT 1
103 (30.994415283203): SELECT show_live FROM jos_com_show_setting LIMIT 1
104 (87.976455688477): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294747787 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294747787 AND published='1' LIMIT 1
105 (55.074691772461): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294747787 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294747787 AND published='1' LIMIT 1
106 (106.0962677002): SELECT dp.*, ch.title as channel, exp.name as author_name, exp.specialization as author_specialization, exp.images as author_photo FROM jos_deeppockets as dp LEFT JOIN jos_experts as exp ON exp.id = dp.author LEFT JOIN jos_deeppockets as ch ON dp.fid = ch.id WHERE 1=1 AND dp.cat=10 AND dp.id=294747787 AND (dp.type='deeppockets_item' OR dp.type='deeppockets_item_link') AND dp.published='1' LIMIT 1
107 (51.975250244141): SELECT dp.*, ch.title as channel, exp.name as author_name, exp.specialization as author_specialization, exp.images as author_photo FROM jos_deeppockets_archive as dp LEFT JOIN jos_experts as exp ON exp.id = dp.author LEFT JOIN jos_deeppockets as ch ON dp.fid = ch.id WHERE 1=1 AND dp.cat=10 AND dp.id=294747787 AND (dp.type='deeppockets_item' OR dp.type='deeppockets_item_link') AND dp.published='1' LIMIT 1
108 (!!!!! 1888.9904022217): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294747787 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294747787 AND published='1' LIMIT 1
109 (84.877014160156): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294747787 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294747787 AND published='1' LIMIT 1
110 (54.836273193359): SELECT dp.*, ch.title as channel, exp.name as author_name, exp.specialization as author_specialization, exp.images as author_photo FROM jos_deeppockets as dp LEFT JOIN jos_experts as exp ON exp.id = dp.author LEFT JOIN jos_deeppockets as ch ON dp.fid = ch.id WHERE 1=1 AND dp.id=294747787 AND (dp.type='deeppockets_item' OR dp.type='deeppockets_item_link') AND dp.published='1' LIMIT 1
111 (461.10153198242): SELECT dp.*, ch.title as channel, exp.name as author_name, exp.specialization as author_specialization, exp.images as author_photo FROM jos_deeppockets_archive as dp LEFT JOIN jos_experts as exp ON exp.id = dp.author LEFT JOIN jos_deeppockets as ch ON dp.fid = ch.id WHERE 1=1 AND dp.id=294747787 AND (dp.type='deeppockets_item' OR dp.type='deeppockets_item_link') AND dp.published='1' LIMIT 1
112 (779.86717224121): SELECT dp.name, dp.id, dp2.name as channel, ex.name as author_name, ex.specialization, ex.images FROM jos_deeppockets as dp LEFT JOIN jos_experts as ex ON ex.id = dp.author LEFT JOIN jos_deeppockets as dp2 ON dp2.id = dp.fid WHERE dp.author != 0 AND dp.cat = 10 AND dp.published = 1 AND ( (dp.fid = 294743300) OR (dp.fid = 294743301) OR (dp.fid = 294743302) OR (dp.fid = 294743303) OR (dp.fid = 294743304) OR (dp.fid = 294743305) OR (dp.fid = 294743306) OR (dp.fid = 294743307) OR (dp.fid = 294743308) OR (dp.fid = 294743309) OR (dp.fid = 294743310) ) ORDER BY RAND() LIMIT 1
113 (594.8543548584): SELECT dp.name, dp.id, dp2.name as channel, ex.name as author_name, ex.specialization, ex.images FROM jos_deeppockets as dp LEFT JOIN jos_experts as ex ON ex.id = dp.author LEFT JOIN jos_deeppockets as dp2 ON dp2.id = dp.fid WHERE dp.author != 0 AND dp.cat = 10 AND dp.published = 1 AND ( (dp.fid = 294743300) OR (dp.fid = 294743301) OR (dp.fid = 294743302) OR (dp.fid = 294743303) OR (dp.fid = 294743304) OR (dp.fid = 294743305) OR (dp.fid = 294743306) OR (dp.fid = 294743307) OR (dp.fid = 294743308) OR (dp.fid = 294743309) OR (dp.fid = 294743310) ) ORDER BY RAND() LIMIT 1
114 (181.91337585449): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294747787 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294747787 AND published='1' LIMIT 1
115 (72.002410888672): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294747787 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294747787 AND published='1' LIMIT 1
116 (76.055526733398): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294747787 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294747787 AND published='1' LIMIT 1
117 (56.982040405273): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294747787 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294747787 AND published='1' LIMIT 1
118 (100.85105895996): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294747787 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294747787 AND published='1' LIMIT 1
119 (39.100646972656): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294747787 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294747787 AND published='1' LIMIT 1
120 (160.93254089355): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294747787 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294747787 AND published='1' LIMIT 1
121 (53.882598876953): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294747787 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294747787 AND published='1' LIMIT 1
122 (369.07196044922): SELECT * FROM trending_articles WHERE `journal_id` = 10 AND `timestamp` <= NOW() + INTERVAL 7 DAY ORDER BY `order`
123 (!!!!! 26407.957077026): SELECT * FROM jos_deeppockets WHERE jos_deeppockets.cat = 10 AND jos_deeppockets.type = 'deeppockets_item' AND jos_deeppockets.published = 1 AND jos_deeppockets.created + INTERVAL 14 DAY >= NOW() ORDER BY jos_deeppockets.hits DESC LIMIT 7
124 (617.02728271484): SELECT fid FROM jos_deeppockets WHERE cat=10 AND id=294747787 AND type='deeppockets_item' AND published='1' union SELECT fid FROM jos_deeppockets_archive WHERE cat=10 AND id=294747787 AND type='deeppockets_item' AND published='1' LIMIT 1
125 (!!!!! 7786.9892120361): ( SELECT dp.id, dp.name, dp.title, dp.video, dp.video_source, dp.created FROM jos_deeppockets AS dp WHERE dp.video != '' AND dp.video_source != '' AND dp.cat = 10 AND dp.published = 1 AND dp.type != 'deeppockets_item_link' ORDER BY created DESC LIMIT 3 ) UNION ( SELECT dpa.id, dpa.name, dpa.title, dpa.video, dpa.video_source, dpa.created FROM jos_deeppockets_archive AS dpa WHERE dpa.video != '' AND dpa.video_source != '' AND dpa.cat = 10 AND dpa.published = 1 AND dpa.type != 'deeppockets_item_link' ORDER BY created DESC LIMIT 3 ) ORDER BY created DESC LIMIT 3
126 (133.99124145508): ( SELECT dp.id, dp.name, dp.title, dp.video, dp.video_source, dp.created FROM jos_deeppockets AS dp WHERE dp.video != '' AND dp.video_source != '' AND dp.cat = 10 AND dp.published = 1 AND dp.type != 'deeppockets_item_link' ORDER BY created DESC LIMIT 3 ) UNION ( SELECT dpa.id, dpa.name, dpa.title, dpa.video, dpa.video_source, dpa.created FROM jos_deeppockets_archive AS dpa WHERE dpa.video != '' AND dpa.video_source != '' AND dpa.cat = 10 AND dpa.published = 1 AND dpa.type != 'deeppockets_item_link' ORDER BY created DESC LIMIT 3 ) ORDER BY created DESC LIMIT 3
127 (48.160552978516): SELECT dp.id, dp.name, dp.title, dp.video, dp.video_source, dp.created FROM jos_deeppockets AS dp WHERE dp.id = 294803337 LIMIT 1
128 (30.040740966797): SELECT dp.id, dp.name, dp.title, dp.video, dp.video_source, dp.created FROM jos_deeppockets AS dp WHERE dp.id = 294803337 LIMIT 1
129 (61.988830566406): SELECT dp.id, dp.name, dp.title, dp.video, dp.video_source, dp.created FROM jos_deeppockets AS dp WHERE dp.id = 294803276 LIMIT 1
130 (43.153762817383): SELECT dp.id, dp.name, dp.title, dp.video, dp.video_source, dp.created FROM jos_deeppockets AS dp WHERE dp.id = 294803276 LIMIT 1
131 (361.91940307617): SELECT dp.id, dp.name, dp.title, dp.video, dp.video_source, dp.created FROM jos_deeppockets_archive AS dp WHERE dp.id = 294803276 LIMIT 1
132 (41.961669921875): SELECT dp.id, dp.name, dp.title, dp.video, dp.video_source, dp.created FROM jos_deeppockets_archive AS dp WHERE dp.id = 294803276 LIMIT 1
133 (34.093856811523): SELECT dp.id, dp.name, dp.title, dp.video, dp.video_source, dp.created FROM jos_deeppockets AS dp WHERE dp.id = 294802958 LIMIT 1
134 (29.087066650391): SELECT dp.id, dp.name, dp.title, dp.video, dp.video_source, dp.created FROM jos_deeppockets AS dp WHERE dp.id = 294802958 LIMIT 1
135 (573.87351989746): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294747787 AND (type='deeppockets_item' OR type='deeppockets_item_link') AND published='1' LIMIT 1
136 (369.07196044922): SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294747787 AND (type='deeppockets_item' OR type='deeppockets_item_link') AND published='1' LIMIT 1
137 (201.94053649902): SELECT name FROM jos_deeppockets WHERE id=212
138 (34.093856811523): SELECT name FROM jos_deeppockets WHERE id=212
139 (666.14151000977): SELECT *, DATE_FORMAT(publish_up,'%d %b %Y') AS date_publish_up, DATE_FORMAT(publish_down,'%d %b %Y') AS date_publish_down FROM jos_events WHERE state=1 AND publish_up > NOW() and extra_info REGEXP '((;)|(^))212((;)|($))' AND catid IN (0,110) ORDER BY publish_up ASC LIMIT 3
140 (596.04644775391): SELECT *, DATE_FORMAT(publish_up,'%d %b %Y') AS date_publish_up, DATE_FORMAT(publish_down,'%d %b %Y') AS date_publish_down FROM jos_events WHERE state=1 AND publish_up > NOW() and extra_info REGEXP '((;)|(^))212((;)|($))' AND catid IN (0,110) ORDER BY publish_up ASC LIMIT 3
141 (75.101852416992): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294747787 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294747787 AND published='1' LIMIT 1
142 (46.014785766602): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294747787 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294747787 AND published='1' LIMIT 1
143 (!!!!! 9128.0937194824): TRUNCATE TABLE jos_trademed_module
144 (101.08947753906): SELECT dp.*, ch.title as channel, exp.name as author_name, exp.specialization as author_specialization, exp.images as author_photo FROM jos_deeppockets as dp LEFT JOIN jos_experts as exp ON exp.id = dp.author LEFT JOIN jos_deeppockets as ch ON dp.fid = ch.id WHERE 1=1 AND dp.cat=10 AND dp.id=294747787 AND (dp.type='deeppockets_item' OR dp.type='deeppockets_item_link') AND dp.published='1' LIMIT 1
145 (67.949295043945): SELECT dp.*, ch.title as channel, exp.name as author_name, exp.specialization as author_specialization, exp.images as author_photo FROM jos_deeppockets_archive as dp LEFT JOIN jos_experts as exp ON exp.id = dp.author LEFT JOIN jos_deeppockets as ch ON dp.fid = ch.id WHERE 1=1 AND dp.cat=10 AND dp.id=294747787 AND (dp.type='deeppockets_item' OR dp.type='deeppockets_item_link') AND dp.published='1' LIMIT 1
146 (593.18542480469): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294747787 AND (type='deeppockets_item' OR type='deeppockets_item_link') AND published='1' LIMIT 1
147 (68.902969360352): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294747787 AND (type='deeppockets_item' OR type='deeppockets_item_link') AND published='1' LIMIT 1
148 (63.896179199219): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294747787 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294747787 AND published='1' LIMIT 1
149 (53.167343139648): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294747787 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294747787 AND published='1' LIMIT 1
150 (!!!!! 1296.9970703125): SELECT jos_item.* FROM jos_item INNER JOIN jos_number ON jos_item.numberID=jos_number.id WHERE 1=1 AND (jos_item.imgMini<>'') AND jos_item.type='L' AND jos_item.numberID= ( SELECT jos_number.id FROM jos_number WHERE jos_number.journalID IN (10) and jos_number.id in (select distinct jos_number.id from jos_number join jos_item on jos_item.numberid=jos_number.id where jos_item.type='P') ORDER BY (CONVERT(SUBSTRING(issue,1,2),SIGNED) + (CONVERT(SUBSTRING(issue,3,2),SIGNED)*100)) DESC LIMIT 0,1 ) ORDER BY RAND() DESC LIMIT 6
151 (71.048736572266): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294747787 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294747787 AND published='1' LIMIT 1
152 (56.028366088867): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294747787 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294747787 AND published='1' LIMIT 1
153 (45.061111450195): SELECT fid FROM jos_deeppockets WHERE cat=10 AND id=294747787 AND type='deeppockets_item' AND published='1' union SELECT fid FROM jos_deeppockets_archive WHERE cat=10 AND id=294747787 AND type='deeppockets_item' AND published='1' LIMIT 1
154 (38.862228393555): select distinct links.* from jos_textlinks links join jos_textlinks_placement placement on links.id=placement.link_id where journal_id=(10) and (channel_id=212 or channel_id is null)
155 (35.04753112793): select distinct links.* from jos_textlinks links join jos_textlinks_placement placement on links.id=placement.link_id where journal_id=(10) and (channel_id=212 or channel_id is null)
156 (39.100646972656): SELECT livesite FROM jos_dp_categories WHERE id=10 AND published='1' LIMIT 1
157 (167.8466796875): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294747787 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294747787 AND published='1' LIMIT 1
158 (62.942504882812): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294747787 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294747787 AND published='1' LIMIT 1
159 (46.968460083008): select jos_twitters.link from jos_twitters where cat=10
160 (31.948089599609): select jos_facebook.link from jos_facebook where cat=10
161 (30.994415283203): select jos_google_plus.link from jos_google_plus where cat=10
162 (29.087066650391): select jos_linkedin.link from jos_linkedin where cat=10
163 (333.07075500488): update jos_bannersmanager_banner set impmade=impmade+1 where id in(14615,14202,14203)
164 (!!!!! 1120.0904846191): insert into jos_banners_delta values (14615,'2025-06-25 09:44:29','216.73.216.120','view'),(14202,'2025-06-25 09:44:29','216.73.216.120','view'),(14203,'2025-06-25 09:44:29','216.73.216.120','view')