When I see a new patient for chronic tics and vocalizations (Tourette syndrome, if you will) the most likely outcome is a single visit wherein the character and natural history of chronic tics and vocalizations in childhood are reviewed. Typically, the tics and vocalizations do not distress the patient nor are they a source of social handicap or stigmatization. I then wish the family a good life, with a request that I be contacted if the tics and vocalizations later cause personal distress or social handicap or if there are ongoing or new concerns. One disclosure: I strive mightily to distance myself from attention issues, leaving those to the primary care physician or some other specialist. The same would be true of obsessive/compulsive behavior, which is less frequently a comorbidity.
A colleague said in response to this: "At the very least, a diagnostic visit should include asking questions that would help determine whether any of these coexisting diagnoses exist."
I responded: I certainly agree and I strive to accomplish this at the typical new patient's one and only scheduled visit. Appropriate referral is suggested if these comorbidities are present.
Another colleague said: "Your approach is pretty much exactly what I do. We do not prescribe stimulants in our clinic, although many of our patients are on them from either Mental Health Clinic, behavioral ped or their pediatricians. We explain why some people choose meds for tics, and why we try not to use them, but if the CHILD is troubled by the tics and wants meds, usually offer guanfacine or clonidine patch. We avoid them if only the parents are bothered by the tics, and child denies social issues or discomfort with the ticing. Only about 5% want meds. There is a local OT group doing tic behavioral therapy nearby, and we tell everyone it is worth a try if they are motivated. Most insurers cover it because it is done by OTs at a community hospital, not psychologists."
My response: "My submission was inspired by seeing two new patients of exactly the sort I describe one day before. At our institution, there has been talk of starting a Tourette syndrome clinic replete with a psychologist doing habit reversal training. When I look at my clientele, I am impressed by how few would benefit from a more intensive approach to their tics and vocalizations. I certainly do have patients on tic-suppressing medications, many of whom are quite happy with the results. Most of the time, though, my role seems to be mollifying anxious parents, telling them how unlikely it is that their child's life will be taken over by tics and that their child will be standing on the street corner blurting out obscenities."
Thursday, April 30, 2015
Wednesday, April 29, 2015
Alternatives to alternative
"It was in the grip of these doubts when, inside Goofy’s Kitchen, Jim and Louise returned to their table from the buffet and noticed 6-year-old David hadn’t come with them. They saw him standing at the buffet, devouring a waffle. The Laidlers feared the worst. “We’d been told that the slightest smidgen of gluten would crash him,” Jim says. “It was absolutely devastating to watch.” But by the end of the vacation, they realized David was fine. Nothing happened.
When they returned home, the Laidlers took David off his restrictive diet, and he continued to improve—rapidly. Louise stopped Ben’s supplement regimen—without telling Jim—and Ben’s behavior remained the same. Then, after months of soul-searching, Jim Laider took to the internet to announce his 'de-conversion' from alternative medicine—a kind of penance, but also a warning to others. 'I had this guilt to expunge,' Jim says. 'I helped to promote this nonsense, and I didn’t want other people to fall for it like I did.'...
When Jim Laidler became an alt-medicine apostate, proponents of the treatments he criticized went on the attack. He received death threats from parents. It’s an intellectually and emotionally bruising battle no matter which side you’re on, one that today pits not just doctor against layperson, but also doctor against doctor. And as the Laidlers demonstrate, it can pit well-trained doctors against their own psyche. 'I was happier because we felt like we were doing something right,' Jim Laidler says of the treatments he gave his sons over the course of so many years. 'That’s how the madness begins. You want to believe that it’s working, so you force yourself to see results, and silence the scientific part of your brain.'"
http://www.wired.com/2015/04/alternative-medicine-believers-journey-back-science/
When they returned home, the Laidlers took David off his restrictive diet, and he continued to improve—rapidly. Louise stopped Ben’s supplement regimen—without telling Jim—and Ben’s behavior remained the same. Then, after months of soul-searching, Jim Laider took to the internet to announce his 'de-conversion' from alternative medicine—a kind of penance, but also a warning to others. 'I had this guilt to expunge,' Jim says. 'I helped to promote this nonsense, and I didn’t want other people to fall for it like I did.'...
When Jim Laidler became an alt-medicine apostate, proponents of the treatments he criticized went on the attack. He received death threats from parents. It’s an intellectually and emotionally bruising battle no matter which side you’re on, one that today pits not just doctor against layperson, but also doctor against doctor. And as the Laidlers demonstrate, it can pit well-trained doctors against their own psyche. 'I was happier because we felt like we were doing something right,' Jim Laidler says of the treatments he gave his sons over the course of so many years. 'That’s how the madness begins. You want to believe that it’s working, so you force yourself to see results, and silence the scientific part of your brain.'"
http://www.wired.com/2015/04/alternative-medicine-believers-journey-back-science/
Topiramate facilitating eating disorders
In an article published online April 6 in Pediatrics, the investigators describe seven girls aged 13 to 18 years in whom serious eating disorders developed or were exacerbated after the initiation of topiramate therapy for migraine prevention. Although four of the girls had clear preexisting eating disorder pathology, none had received an eating disorder diagnosis or treatment before starting topiramate.
Three of the patients endorsed no eating disorder symptoms before starting topiramate, although one patient had a family history of eating disorders. It's possible that all three patients had risk factors or subthreshold symptoms of eating disorders despite not having outward signs.
http://www.medscape.com/viewarticle/842951?src=wnl_edit_specol
Lebow J, Chuy JA, Cedermark K, Cook K, Sim LA. The Development or Exacerbation
of Eating Disorder Symptoms After Topiramate Initiation. Pediatrics. 2015 Apr 6.
pii: peds.2014-3413.
http://pediatrics.aappublications.org/content/early/2015/03/31/peds.2014-3413.full.pdf+html
Three of the patients endorsed no eating disorder symptoms before starting topiramate, although one patient had a family history of eating disorders. It's possible that all three patients had risk factors or subthreshold symptoms of eating disorders despite not having outward signs.
http://www.medscape.com/viewarticle/842951?src=wnl_edit_specol
Lebow J, Chuy JA, Cedermark K, Cook K, Sim LA. The Development or Exacerbation
of Eating Disorder Symptoms After Topiramate Initiation. Pediatrics. 2015 Apr 6.
pii: peds.2014-3413.
http://pediatrics.aappublications.org/content/early/2015/03/31/peds.2014-3413.full.pdf+html
Neither shall he multiply wives to himself, that his heart turn not away
Polygamy increases risk of heart disease by more than 4-fold
Risk and severity of heart disease increases with the number of wives
The 687 married men in the study had an average age of 59 years and 56% had diabetes, 57% had hypertension and 45% had a past history of coronary artery disease (CAD). Around two-thirds of the men had one wife (68%) while 19% had 2 wives, 10% had 3 wives and 3% had 4 wives. There were significant baseline differences according to the number of wives. Men with more than 1 wife were more likely to be older, live in a rural area, have a higher income and have a history of coronary artery bypass grafting (CABG).
Dr Daoulah said: “Polygamy may be more frequent in rural areas because it is more culturally acceptable and getting married at a young age is more common. Also, in the regions that we studied, there was a higher percentage of national citizens residing in rural areas compared to urban areas. Men with multiple wives have to be well supported financially, and although Saudis and Emirati people are supported by their governments, polygamists may need more than one income. They may therefore take on extra employment or have the added pressure of travelling daily to urban areas for higher paid work.”
The researchers found a significant association between number of wives and the presence of CAD, left main artery disease (LMD) and multivessel disease (MVD). Risk increased with the number of wives (see figure). After adjusting for baseline differences, the researchers showed that men who practiced polygamy had a 4.6-fold increased risk of CAD, a 3.5-fold increased risk of LMD and a 2.6-fold elevated risk of MVD.
http://www.escardio.org/The-ESC/Press-Office/Press-releases/Last-5-years/Polygamy-increases-risk-of-heart-disease-by-more-than-4-fold
(All right, this is on a tangent)
Risk and severity of heart disease increases with the number of wives
The 687 married men in the study had an average age of 59 years and 56% had diabetes, 57% had hypertension and 45% had a past history of coronary artery disease (CAD). Around two-thirds of the men had one wife (68%) while 19% had 2 wives, 10% had 3 wives and 3% had 4 wives. There were significant baseline differences according to the number of wives. Men with more than 1 wife were more likely to be older, live in a rural area, have a higher income and have a history of coronary artery bypass grafting (CABG).
Dr Daoulah said: “Polygamy may be more frequent in rural areas because it is more culturally acceptable and getting married at a young age is more common. Also, in the regions that we studied, there was a higher percentage of national citizens residing in rural areas compared to urban areas. Men with multiple wives have to be well supported financially, and although Saudis and Emirati people are supported by their governments, polygamists may need more than one income. They may therefore take on extra employment or have the added pressure of travelling daily to urban areas for higher paid work.”
The researchers found a significant association between number of wives and the presence of CAD, left main artery disease (LMD) and multivessel disease (MVD). Risk increased with the number of wives (see figure). After adjusting for baseline differences, the researchers showed that men who practiced polygamy had a 4.6-fold increased risk of CAD, a 3.5-fold increased risk of LMD and a 2.6-fold elevated risk of MVD.
http://www.escardio.org/The-ESC/Press-Office/Press-releases/Last-5-years/Polygamy-increases-risk-of-heart-disease-by-more-than-4-fold
(All right, this is on a tangent)
Tuesday, April 28, 2015
Autistic empathy toward autistic others
"The results demonstrated that the ventromedial prefrontal cortex was significantly activated in individuals with ASD in response to autistic characters and in typically developing (TD) individuals in response to non-autistic characters. Although the frontal–posterior network between the ventromedial prefrontal cortex and superior temporal gyrus participated in the processing of non-autistic characters in TD individuals, an alternative network was involved when individuals with ASD processed autistic characters. This suggests an atypical form of empathy in individuals with ASD toward others with ASD...
Individuals with ASD do not lack empathy toward others who are similar to themselves, just as TD individuals respond selectively to others who are similar than to those who are dissimilar. In contrast, the neural mechanisms underlying the responses of those with ASD to others differ from those underlying this process in TD individuals. Individuals with ASD do not employ the frontal–posterior network during cognitions pertaining to the behavior of other ASD individuals."
See: http://www.medscape.com/viewarticle/842384_1?nlid=80345_3001
Individuals with ASD do not lack empathy toward others who are similar to themselves, just as TD individuals respond selectively to others who are similar than to those who are dissimilar. In contrast, the neural mechanisms underlying the responses of those with ASD to others differ from those underlying this process in TD individuals. Individuals with ASD do not employ the frontal–posterior network during cognitions pertaining to the behavior of other ASD individuals."
See: http://www.medscape.com/viewarticle/842384_1?nlid=80345_3001
Hidetsugu Komeda, Hirotaka Kosaka, Daisuke N. Saito, Yoko Mano, Minyoung Jung, Takeshi Fujii, Hisakazu T. Yanaka, Toshio Munesue, Makoto Ishitobi, Makoto Sato, Hidehiko Okazawa. Autistic Empathy Toward Autistic Others. Soc Cogn Affect Neurosci. 2015;10(2):145-152.
Why pregnant women in Mississippi keep dying
"The United States is the only advanced economy in the world
with a rising maternal mortality rate. Deaths related to childbirth in the United
States are nearing the highest rate in a quarter-century. An estimated 18.5
mothers died for every 100,000 births in 2013, compared with 7.2 per 100,000 in
1987. This means a woman giving birth here is twice as likely to die than in
Saudi Arabia and three times as likely than in the United Kingdom.
The problem is particularly acute in the South. For
instance, Mississippi’s maternal mortality rate, one of the highest in the
country, has been climbing for more than a decade. From 2010 to 2012, the last
measure, an average of nearly 40 women died for every 100,000 births. Risk
varied drastically by race: The rate for black women, 54.7, was much higher
than the rate for white women, 29.3...
The cost of care for pregnant women, meanwhile, has sharply
risen. The average cost of delivery here has nearly tripled since 1996,
according to a Truven Health Analytics analysis for the New York Times.
Maternal and newborn care make up the largest category of hospital payouts for
most insurers and state Medicaid programs. Our country's approximate four
million annual births cost more than $50 billion.
Despite heavy spending, the United States was one of just
eight countries to see a rise in maternal mortality over the past decade,
ranking 60 for pregnancy-related deaths on a list of 180 countries, according
to research last year from the University of Washington’s Institute for Health
Metrics and Evaluation. Other countries that also saw a rise in maternal
mortality included Afghanistan, Greece, El Salvador and South Sudan."
Peds Serve as Primary Prevention for Child Abuse
"Bruises are the most common sign of physical abuse, and they may be the only sign of a deeper internal injury. While normal childhood bruising occurs on the knees, legs and forehead, bruising that is the result of physical abuse is likely to occur on the head and face, appear in clusters, or appear in the shape of an implement, such as a handprint or a mark of a cord. Any bruising on a nonmobile infant is cause for concern because, as the authors note, 'those who don't cruise rarely bruise'"
See: http://www.medpagetoday.com/Pediatrics/PreventiveCare/51212?xid=nl_mpt_DHE_2015-04-28&eun=g906366d0r&userid=906366&mu_id=5793688
Also: http://pediatrics.aappublications.org/content/early/2015/04/21/peds.2015-0356.full.pdf+html
See: http://www.medpagetoday.com/Pediatrics/PreventiveCare/51212?xid=nl_mpt_DHE_2015-04-28&eun=g906366d0r&userid=906366&mu_id=5793688
Also: http://pediatrics.aappublications.org/content/early/2015/04/21/peds.2015-0356.full.pdf+html
Monday, April 27, 2015
Lethal seizure
“'I have no memory of the events immediately surrounding the death of my mother,' he said. But he added that after hearing about the evidence, 'I am convinced that I physically caused my mother’s death.'"
http://www.nytimes.com/2014/10/07/nyregion/under-plea-man-is-found-not-responsible-in-mothers-2012-killing.html?_r=0
http://www.nydailynews.com/new-york/student-killed-mother-epileptic-fit-released-hospital-article-1.1333409
http://www.thedailybeast.com/articles/2012/04/27/why-epilepsy-not-henry-wachtel-is-to-blame-for-teen-s-mother-s-death.html#
http://www.foxnews.com/health/2012/04/16/did-medical-condition-contribute-to-teen-killing-mother/
http://www.nytimes.com/2014/10/07/nyregion/under-plea-man-is-found-not-responsible-in-mothers-2012-killing.html?_r=0
http://www.nydailynews.com/new-york/student-killed-mother-epileptic-fit-released-hospital-article-1.1333409
http://www.thedailybeast.com/articles/2012/04/27/why-epilepsy-not-henry-wachtel-is-to-blame-for-teen-s-mother-s-death.html#
http://www.foxnews.com/health/2012/04/16/did-medical-condition-contribute-to-teen-killing-mother/
The difference between 17 and 18
"A 17-year-old Connecticut girl forced by the courts to undergo chemotherapy for her cancer has finished that treatment and was expected to be released Monday from the hospital.
See: http://www.ksl.com/?nid=157&sid=34405945
See: http://www.nytimes.com/2015/01/10/nyregion/connecticut-teenager-with-cancer-loses-court-fight-to-refuse-chemotherapy.html?smprod=nytcore-ipad&smid=nytcore-ipad-share&_r=0
The teen, identified only as Cassandra C, told The Associated Press in a text message that she likely would be discharged from the Connecticut Children's Medical Center on Monday afternoon.
'I'm at a loss for words with how happy I am that I'm finally coming home,' she said. 'This day seemed like it would never come. I can finally start putting my life back together, and I look forward to spending time with my mom, friends and heading back to school/work.'
Doctors say her Hodgkin lymphoma, diagnosed in September, is in remission. Cassandra posted photos Friday after having the ports used to administer the chemo removed from her body.
Cassandra and her mother initially refused the chemotherapy. They have said they wanted to explore more natural alternative treatments.
The state Department of Children and Families stepped in and a Juvenile Court judge removed her from her home and ordered her to undergo chemo."
See: http://www.ksl.com/?nid=157&sid=34405945
See: http://www.nytimes.com/2015/01/10/nyregion/connecticut-teenager-with-cancer-loses-court-fight-to-refuse-chemotherapy.html?smprod=nytcore-ipad&smid=nytcore-ipad-share&_r=0
Friday, April 24, 2015
Don't Bogart that candy, my friend....
"As marijuana-laced candies, edibles and treats hit the market, child health and safety issues are emerging."
See: https://www.childrenshospitals.org/Newsroom/Childrens-Hospitals-Today/Spring-2015/Articles/Recreational-Marijuana-Legalization-and-the-Effects-on-Child-Health-and-Safety
See: https://www.childrenshospitals.org/Newsroom/Childrens-Hospitals-Today/Spring-2015/Articles/Recreational-Marijuana-Legalization-and-the-Effects-on-Child-Health-and-Safety
Paternal sperm in autism
"In summary, we have identified relatively large inter-individual differences in paternal sperm DNAm that associate with later 12-month ASD-related phenotype in their biological offspring, among a sample of autism enriched-risk infant siblings. Many of these regions of paternal sperm DNAm were also associated with ASD in cerebellum brain samples. Further, the genes implicated are enriched for neurodevelopment and include regions implicated in Prader-Willi syndrome. This unique set of biosamples is comparatively small, given the nature of the biosample type and required perinatal collection timing in an enriched-risk cohort. Thus it is important to examine these findings in larger samples to confirm these associations and explore mechanistic implications."
See: Feinberg JI, Bakulski KM, Jaffe AE, Tryggvadottir R, Brown SC, Goldman LR,
Croen LA, Hertz-Picciotto I, Newschaffer CJ, Daniele Fallin M, Feinberg AP.
Paternal sperm DNA methylation associated with early signs of autism risk in an
autism-enriched cohort. Int J Epidemiol. 2015 Apr 14. pii: dyv028.
Father's Sperm Linked to Autism
http://www.medscape.com/viewarticle/843621?nlid=80085_2863&src=wnl_edit_dail&uac=60196BR
See: Feinberg JI, Bakulski KM, Jaffe AE, Tryggvadottir R, Brown SC, Goldman LR,
Croen LA, Hertz-Picciotto I, Newschaffer CJ, Daniele Fallin M, Feinberg AP.
Paternal sperm DNA methylation associated with early signs of autism risk in an
autism-enriched cohort. Int J Epidemiol. 2015 Apr 14. pii: dyv028.
Father's Sperm Linked to Autism
http://www.medscape.com/viewarticle/843621?nlid=80085_2863&src=wnl_edit_dail&uac=60196BR
Renal disease in tuberous sclerosis
.
"Tuberous sclerosis complex (TSC) is
a multi-organ, genetic disease that affects an estimated up to 1 million people
worldwide. (1,2) TSC causes nonmalignant
tumors to form in multiple organs, including subependymal giant cell
astrocytoma (SEGA), which occurs in the brain, and angiomyolipoma in the
kidneys.(3)Renal angiomyolipoma occurs in up to 80% of patients with TSC;
several studies suggest that the incidence increases in frequency with age.(4)
References:
References:
1.
|
Budde K, Gaedeke J. Tuberous
sclerosis complex-associated angiomyolipomas: focus on mTOR inhibition. Am J
Kidney Dis. 2012;59(2):276-283.
|
2.
|
Tuberous sclerosis fact sheet.
National Institute of Neurological Disorders and Stroke Web site. http://www.ninds.nih.gov/disorders/tuberous_sclerosis/detail_
tuberous_sclerosis.htm. Accessed March 23, 2012.
|
3.
|
Crino PB, Nathanson KL, Henske EP.
The tuberous sclerosis complex. N Engl J Med. 2006;355:1345-1356.
|
4.
|
Ewalt DH, Sheffield E, Sparagana
SP, et al. Renal lesion growth in children with tuberous sclerosis complex. J
Urol. 1998;160:141-145."
|
Admittedly, my practice is limited
to pediatrics. Of the many (and I do mean many) patients I have seen with
tuberous sclerosis since 1984, none to date has had a symptomatic angiomyolipoma. A colleague has a 17 year old patient with
multiple angiomyolipomas. The most
recent abdominal MRI showed ‘interval increase in size of complex heterogeneous
lesion involving the midportion of the right kidney which now measures 4.1 cm
maximum diameter.” There is a hemangioma
of the right lobe of the liver, as well.
The patient is “closely followed by urology”. Another 28 year old patient of the same
colleague, for whom I provided pediatric neurology care in the remote past, has
renal angiomyolipomas. He has had one or
several episodes of hematuria. He is “followed
closely”, as well. I have never had a
patient who underwent surgical intervention for tuberous sclerosis related
renal disease nor at present do I know of any such patient treated by my
colleagues locally, and I am a pretty nosy guy.
Thursday, April 23, 2015
Evil twin
"Shahinian made a tiny incision in the back of Karanam’s head, then strung an endoscope into her skull and through a natural channel in her brain to the site of the tumor. That’s when the doctor made a startling discovery.
Karanam’s tumor wasn’t just a tumor. It was a teratoma: a clump of bone, hair and teeth. A Frankenstein’s monster within Karanam’s own mind."
See: http://www.washingtonpost.com/news/morning-mix/wp/2015/04/23/womans-brain-tumor-turns-out-to-be-evil-twin-complete-with-bone-hair-and-teeth/
Karanam’s tumor wasn’t just a tumor. It was a teratoma: a clump of bone, hair and teeth. A Frankenstein’s monster within Karanam’s own mind."
See: http://www.washingtonpost.com/news/morning-mix/wp/2015/04/23/womans-brain-tumor-turns-out-to-be-evil-twin-complete-with-bone-hair-and-teeth/
Lethal ALS
"The defense’s primary expert, Dr. Doug Tucker, Raymond said, is not an ALS specialist, and diagnosed Steele with major neurocognitive disorder in order to avoid making a different diagnosis, frontotemporal dementia, because that diagnosis would have required evidence of bad behavior by Steele both before and after the murders, and there was none.
She called it a 'matter of semantics, a shell game.'
Raymond also said that the defense’s case 'vilifies people with ALS,' and implied that the 10 to 20 percent of people with ALS who also have frontotemporal dementia (FTD) could commit violent acts like Steele."
http://chippewa.com/news/local/crime_and_courts/andrew-steele-found-not-guilty-by-mental-defect-for-killings/article_b89f1da4-65c4-525a-83b2-a300b91ab477.html
She called it a 'matter of semantics, a shell game.'
Raymond also said that the defense’s case 'vilifies people with ALS,' and implied that the 10 to 20 percent of people with ALS who also have frontotemporal dementia (FTD) could commit violent acts like Steele."
http://chippewa.com/news/local/crime_and_courts/andrew-steele-found-not-guilty-by-mental-defect-for-killings/article_b89f1da4-65c4-525a-83b2-a300b91ab477.html
Gene editing
"Making repairs using CRISPR harnesses a cell’s own DNA repair machinery to correct genes. The technology guides a cutting protein to a particular site on the DNA molecule, chopping it open. If a DNA 'repair template' is provided—in this case a correct version of the beta-globin gene—the DNA will mend itself using the healthy sequence.
The Chinese group says that among the problems they encountered, the embryo sometimes ignored the template, and instead repaired itself using similar genes from its own genome, 'leading to untoward mutations.'
Huang said he stopped the research after the poor results. 'If you want to do it in normal embryos, you need to be close to 100 percent,' Huang told Nature News. 'That’s why we stopped. We still think it’s too immature.'"
See: http://www.technologyreview.com/news/536971/chinese-team-reports-gene-editing-human-embryo/
See also: http://www.technologyreview.com/news/536021/scientists-call-for-a-summit-on-gene-edited-babies/
http://www.technologyreview.com/news/535846/industry-body-calls-for-gene-editing-moratorium/
The Chinese group says that among the problems they encountered, the embryo sometimes ignored the template, and instead repaired itself using similar genes from its own genome, 'leading to untoward mutations.'
Huang said he stopped the research after the poor results. 'If you want to do it in normal embryos, you need to be close to 100 percent,' Huang told Nature News. 'That’s why we stopped. We still think it’s too immature.'"
See: http://www.technologyreview.com/news/536971/chinese-team-reports-gene-editing-human-embryo/
See also: http://www.technologyreview.com/news/536021/scientists-call-for-a-summit-on-gene-edited-babies/
http://www.technologyreview.com/news/535846/industry-body-calls-for-gene-editing-moratorium/
Wednesday, April 22, 2015
It wasn't spastic diplegia
"Jean Sharon Abbott lived more than three decades trapped inside her own body. She could barely move her arms or legs, and she needed help with even the simplest of tasks. Then, one day, when she was 33 years old, everything changed."
See:
http://themighty.com/2015/04/this-woman-spent-decades-unable-to-control-her-limbs-then-one-day-everything-changed/
Tuesday, April 21, 2015
Neonatal seizures
"He was a blue baby, Mom said. When he was born, he couldn't breathe and came into the world having a seizure. Whenever Mom told the story, she would hold her arms rigid and clench her teeth and go bug-eyed to show how Brian looked. Mom said when she saw him like that she thought, Uh-oh, looks like this one's a goner, too. But Brian lived. For the first year of his life, he kept having those seizures, then one day they just stopped. He turned into a tough little guy who never whined or cried, even the time I accidentally pushed him off the top bunk and he broke his nose."
Jeannette Walls, The Glass Castle
Jeannette Walls, The Glass Castle
Saturday, April 18, 2015
An aromatherapist saw "something in his eyes"
"One cannot even begin to imagine the despair, frustration and fear that was Martin Pistorius's life for more than a decade. After contracting meningitis at the age of 12, he found himself locked inside his body and spent 14 years with no form of communication and completely unable to control his body.
His parents were told that their only option was to allow him to die and that he had the brain function of a three-month-old baby. That, however, was not the case. While the illness had wreaked havoc on Martin's body, his mind remained largely intact. Day after day he lay motionless on a bed, or strapped to a chair, all the while desperate to communicate but unable to do so...
That today Martin could be working as a website developer, be about to embark on a BSc in computer science and be married to a beautiful blonde is something he, and everyone who knew him, once would have imagined impossible.
But incredibly, thanks to the actions of an aromatherapist who, he says, saw 'something in his eyes' that told her he was still conscious, and his mother, who subsequently gave up her job to help Martin learn to communicate, his life began again."
Read more:
http://www.dailymail.co.uk/femail/article-1248617/From-age-12-26-Martin-frozen-body-unable-speak-But-just-look-.html
See also:
http://www.npr.org/blogs/health/2015/01/09/376084137/trapped-in-his-body-for-12-years-a-man-breaks-free?sc=tw
http://www.martinpistorius.com/ghost-boy-book
His parents were told that their only option was to allow him to die and that he had the brain function of a three-month-old baby. That, however, was not the case. While the illness had wreaked havoc on Martin's body, his mind remained largely intact. Day after day he lay motionless on a bed, or strapped to a chair, all the while desperate to communicate but unable to do so...
That today Martin could be working as a website developer, be about to embark on a BSc in computer science and be married to a beautiful blonde is something he, and everyone who knew him, once would have imagined impossible.
But incredibly, thanks to the actions of an aromatherapist who, he says, saw 'something in his eyes' that told her he was still conscious, and his mother, who subsequently gave up her job to help Martin learn to communicate, his life began again."
Read more:
http://www.dailymail.co.uk/femail/article-1248617/From-age-12-26-Martin-frozen-body-unable-speak-But-just-look-.html
See also:
http://www.npr.org/blogs/health/2015/01/09/376084137/trapped-in-his-body-for-12-years-a-man-breaks-free?sc=tw
http://www.martinpistorius.com/ghost-boy-book
Friday, April 17, 2015
Children Report Sexual Abuse More When Taking Prevention Programs In School
"It’s estimated one in 10 girls and one in 20 boys experience some form of sexual abuse — but new research published in the Cochrane Database of Systematic Reviews suggests children report more instances of abuse when they learn about it in school."
See: http://www.medicaldaily.com/children-report-sexual-abuse-more-when-taking-prevention-programs-school-329478
Source: Walsh K, Zwi K, Woolfenden S, Shlonsky A. School-based education programmes for the prevention of child sexual abuse. Cochrane Database of Systematic Reviews. 2015.
See: http://www.medicaldaily.com/children-report-sexual-abuse-more-when-taking-prevention-programs-school-329478
Source: Walsh K, Zwi K, Woolfenden S, Shlonsky A. School-based education programmes for the prevention of child sexual abuse. Cochrane Database of Systematic Reviews. 2015.
Off to see the wizard
“Oh - You're a very bad man!"
"Oh, no my dear. I'm a very good man. I'm just a very bad Wizard.”
http://www.vox.com/2015/4/16/8423867/dr-oz-letter-columbia
"Oh, no my dear. I'm a very good man. I'm just a very bad Wizard.”
http://www.vox.com/2015/4/16/8423867/dr-oz-letter-columbia
Thursday, April 16, 2015
On having children who might inherit a serious disorder
"She doesn't value my life. She doesn't think I have a meaningful life, and a good life and a life I feel fulfilled in...I dealt with it. I'm here. I have an incredible life."
See: http://rivkyderen.tumblr.com/ video entitled "if Shmuly was a carrier"
See: http://rivkyderen.tumblr.com/ video entitled "if Shmuly was a carrier"
When opposition to life-prolonging treatment changes
"The time had come to clarify what types of interventions my father wanted. I knew what I hoped to hear. Not only did I know his opinions about inappropriate treatment, but he had written some notes when he began to seriously deteriorate. He said that he was 'taking steps to ease my passage.' Some with his condition, he added, 'have taken drugs.' Regarding his wife — my mother — he wrote that she 'doesn’t deserve to struggle with me anymore.'
But when I asked what he wanted, these notions had disappeared. He said he would be willing to go to the hospital if he got sicker and even go on a ventilator. 'Sometimes they can really help,' he said.
I tried a different tack. 'Are you content,' I asked, 'living in a nursing home, being confined to a wheelchair and sleeping most of the time?'
The man who had dreaded ever winding up this way answered, 'Yes.'...
In my father’s case, however, I simply could not throw his previously stated wishes out the window. Ultimately, my mother, sister and I concluded that it was impossible to advocate such specific choices so fervently in one’s lifetime without their being a part of one’s permanent makeup — even if they could no longer be articulated. I realized that other families, in similar situations, might choose the opposite strategy.
We did not tell my father we were overruling him but rather quietly put him into the nursing home’s hospice program in early 2012. Many months later, he caught an infection — one that was probably treatable. Instead, the staff gave him morphine to ease his discomfort. Within 24 hours, he had died."
Even when parents raise concerns early, diagnoses often come late
"Parents with autistic children were more likely to receive a
passive, rather than a proactive response from a provider when raising concerns
about their children's development compared with parents whose children
exhibited signs of developmental delay, according to data from a large survey."
See: http://www.medpagetoday.com/Pediatrics/Autism/51004?xid=nl_mpt_DHE_2015-04-16&eun=g906366d0r&userid=906366&mu_id=5793688
Source article: Zuckerman KE, et al. Parental concerns, provider response and timeliness of autism spectrum diagnosis. J Pediatr 2015; DOI 10.1016/jpeds.2015.03.007
Powassan virus
"Originally discovered two years ago in Warren County, New Jersey when a woman developed symptoms akin to Lyme disease in May 2013, but then died days later. (sic)
Unlike Lyme disease, Powassan can be easily transmitted only hours after being bit by a tick, so Rainey and other health agencies are asking the public to wear long-sleeves when spending time outdoors, and to check vigilantly for ticks that may attach themselves to the body. "
See: http://www.sciencetimes.com/articles/5702/20150416/the-tick-problem-what-are-the-chances-that-you-ll-survive-the-spring-powassan-free.htm
Unlike Lyme disease, Powassan can be easily transmitted only hours after being bit by a tick, so Rainey and other health agencies are asking the public to wear long-sleeves when spending time outdoors, and to check vigilantly for ticks that may attach themselves to the body. "
See: http://www.sciencetimes.com/articles/5702/20150416/the-tick-problem-what-are-the-chances-that-you-ll-survive-the-spring-powassan-free.htm
Wednesday, April 15, 2015
Medical child abuse
See: http://www.dailymail.co.uk/news/article-2976107/Mom-convicted-killing-son-5-poisoning-salt.html
"'The motive is bizarre, the motive is scary, bit it exists,' Assistant District Attorney Patricia Miller said in closing arguments Thursday. 'She apparently craved the attention of her family, her friends, her co-workers and most particularly the medical profession.'
She suggested that Spears, 27, eventually killed the boy because she feared he would start telling people she was making him ill. 'Her actions were nothing short of torture,' she said."
But also see: http://pjmedia.com/lifestyle/2015/04/08/is-a-sick-child-an-asset-to-a-bankrupt-state/
"When complications set in, as they often did for Isaiah, the hospital was ill-equipped to diagnose or relieve his suffering. Michelle, a registered nurse by profession, believed it was her right and responsibility as his mother to have her son transferred to a hospital that had successfully treated him in the past.
The hospital administration did not see it that way.
Instead of complying, two social workers and the director of the Pediatric Intensive Care Unit (PICU) led Michelle into a small room. There she was stripped of her hospital band and parental rights. After informing the distraught mother they were charging her with “medical child abuse” (also known as Munchausen by proxy), they waited for her to stop sobbing and escorted her out of the hospital.
While in the ICU, Isaiah was forcibly separated from his mother far beyond the customary 48 hours. He was not allowed to see or hear from his mother for 24 days. He was then dumped in a foster home.
That was over a year ago."
See: http://www.tdcaa.com/journal/investigating-medical-child-abuse
"'The motive is bizarre, the motive is scary, bit it exists,' Assistant District Attorney Patricia Miller said in closing arguments Thursday. 'She apparently craved the attention of her family, her friends, her co-workers and most particularly the medical profession.'
She suggested that Spears, 27, eventually killed the boy because she feared he would start telling people she was making him ill. 'Her actions were nothing short of torture,' she said."
But also see: http://pjmedia.com/lifestyle/2015/04/08/is-a-sick-child-an-asset-to-a-bankrupt-state/
"When complications set in, as they often did for Isaiah, the hospital was ill-equipped to diagnose or relieve his suffering. Michelle, a registered nurse by profession, believed it was her right and responsibility as his mother to have her son transferred to a hospital that had successfully treated him in the past.
The hospital administration did not see it that way.
Instead of complying, two social workers and the director of the Pediatric Intensive Care Unit (PICU) led Michelle into a small room. There she was stripped of her hospital band and parental rights. After informing the distraught mother they were charging her with “medical child abuse” (also known as Munchausen by proxy), they waited for her to stop sobbing and escorted her out of the hospital.
While in the ICU, Isaiah was forcibly separated from his mother far beyond the customary 48 hours. He was not allowed to see or hear from his mother for 24 days. He was then dumped in a foster home.
That was over a year ago."
See: http://www.tdcaa.com/journal/investigating-medical-child-abuse
Tuesday, April 14, 2015
Meningococcal meningitis
"A popular Virginia teen, Madison Small, died suddenly after complaining of a headache. The teen was taken to the hospital Monday night, but by Tuesday morning she was pronounced dead. The mysterious death left Madison’s family grieving and confused at how their daughter, who was the 'picture of health' could pass away so suddenly without warning. However, yesterday health officials announced an official cause for the teen’s untimely death, meningococcal meningitis."
Read more at: http://www.inquisitr.com/2001142/madison-small-teen-dies-suddenly-after-complaining-of-headache-autopsy-reveals-cause-of-death/#Oo5YKkeECje24D7z.99
Read more at: http://www.inquisitr.com/2001142/madison-small-teen-dies-suddenly-after-complaining-of-headache-autopsy-reveals-cause-of-death/#Oo5YKkeECje24D7z.99
Stereotypy treatment
From a colleague:
A mother told me yesterday that she cured her autistic
son's hand flapping with use of tarantula drops. This is made by dissolving a
female tarantula in oil and diluting the solution. Drops are given orally to an
affected child.
This works because the female tarantula does a
stereotypic dance. Because of this, the female tarantula essence in oil can
cure stereotypies.
Another treatment to add to our arsenal!
Monday, April 13, 2015
Breath-holding spells
From Peter Freuchen, Arctic Adventure
A favorite pastime of the children is to hang themselves by their hoods. When the hoods tighten about their necks blood is kept from their heads and they eventually lose consciousness. The other children in the house take them down as soon as their faces turn purple.
The state of unconsciousness is so delightful, the children say, that they play this game at every opportunity over and over again.
A favorite pastime of the children is to hang themselves by their hoods. When the hoods tighten about their necks blood is kept from their heads and they eventually lose consciousness. The other children in the house take them down as soon as their faces turn purple.
The state of unconsciousness is so delightful, the children say, that they play this game at every opportunity over and over again.
Sunday, April 12, 2015
Brain death
"The controversy about the philosophical and biological status of BD is more complex than this, and it's not possible to do justice to the two sides of the debate here. But the fact that controversy persists, more than 40 years after the concept of brain death was first formally proposed, is enough to suggest that the biological and philosophical status of brain death is at least open to intellectually respectable debate."
See: http://www.neurologyadvisor.com/determining-brain-death/article/404490/
See: http://www.neurologyadvisor.com/determining-brain-death/article/404490/
Saturday, April 11, 2015
Head transplant
The first step in the procedure will involve cooling the patient's head and brain to about 10-15 degrees Celsius or 50-60 Fahrenheit, to slow down metabolism and help the brain tissues withstand oxygen deprivation while the transplant is being conducted.
Spiridonov's head will be transplanted to the body of a brain-dead but otherwise healthy donor.
After the procedure, Spiridonov will be placed in coma for up to a month to prevent movement. This will allow time for the wounds of the surgery to heal and the two spinal cords fuse completely to fasten the head properly.
Surgeons expect that it would take up to a year for the spinal cord from the head to fuse completely with the spinal cord from the body.
Read more: http://www.digitaljournal.com/science/russian-to-undergo-world-s-first-human-head-transplant-surgery/article/430493
Spiridonov's head will be transplanted to the body of a brain-dead but otherwise healthy donor.
The surgeon will employ an ultra-sharp scalpel to severe the spinal cord and remove the patient’s head. The head will then be attached to its new body using a special biological glue called polyethylene glycol, which induces cells and connective tissues to bind together.
Read more: http://www.digitaljournal.com/science/russian-to-undergo-world-s-first-human-head-transplant-surgery/article/430493
A Tourette tale
I encountered an individual with the most impressive Tourette syndrome I have ever seen long before I know anything about neurology, much less Tourette syndrome. This was in the late sixties/early seventies at a small liberal arts college. When I went to visit as a prospective student, I attended a seminar in which this obviously brilliant and academically aggressive student played a predominant role, He had long, curly, tousled hair which he tossed or scratched with impressive frequency. He sniffed and snorted. He made facial grimaces. He was an early admission freshman. I said to myself, I want to be in college with this fellow.
When I was later in college, the college had a relatively small library. You always knew exactly when this student entered, no matter where you were in the library. I did not disdain him; rather, I envied him.
He graduated magna cum laude (the college at the time on principle did not issue summa cum laude degrees). He went to an Ivy League law school. He then went into the entertainment business, serving as a manager for a variety of movie stars. He married a famous actress.
Given what a powerful personality he was at the small college I attended, had anyone applied the diagnosis Tourette syndrome to him, presumably it would have become common knowledge. Just imagine if he had been diagnosed and treated how his life would have been.
When I was later in college, the college had a relatively small library. You always knew exactly when this student entered, no matter where you were in the library. I did not disdain him; rather, I envied him.
He graduated magna cum laude (the college at the time on principle did not issue summa cum laude degrees). He went to an Ivy League law school. He then went into the entertainment business, serving as a manager for a variety of movie stars. He married a famous actress.
Given what a powerful personality he was at the small college I attended, had anyone applied the diagnosis Tourette syndrome to him, presumably it would have become common knowledge. Just imagine if he had been diagnosed and treated how his life would have been.
Thursday, April 9, 2015
Incidental MRI findings in children
"We spend more time counselling families who we think should not have surgery than counselling families we think should have surgery. It's easy for families to understand that we are taking a condition seriously if we are planning to operate, but if we're not treating something surgically, we need to spend a lot of time educating families about the condition so that they understand that they're being taken care of."
See: http://www.medscape.com/viewarticle/842893
See: http://www.medscape.com/viewarticle/842893
Brain heart interaction
"Scientists studied the heart and brain activity of rats in the moments before the animals died from lack of oxygen and found that the animals’ brains sent a flurry of signals to the heart that caused irrevocable damage to the organ, and in fact caused its demise. When the researchers blocked these signals, the heart survived for longer...
In the rats, the brain and heart activity remained synchronized until the heart went into a state called ventricular fibrillation, in which the lower chambers of the heart quiver instead of contracting properly, preventing the heart from pumping blood.
But when the researchers blocked the flow of these chemicals from the brain to the heart, by severing the rats' spinal cords before killing them, it delayed ventricular fibrillation. As a result, the animals survived for three times as long as the rats whose heart-brain connection was left intact...
If researchers can find a way to "sever" the connection between the brain and the heart using drugs (rather than by actually severing the actual spinal cord), then it could be possible to administer these drugs to a person experiencing cardiac arrest. This would give health care workers more time to treat these patients, Borjigin said."
See: http://news.discovery.com/human/health/near-death-experiences-what-happens-in-the-brain-before-dying-1504071.htm
In the rats, the brain and heart activity remained synchronized until the heart went into a state called ventricular fibrillation, in which the lower chambers of the heart quiver instead of contracting properly, preventing the heart from pumping blood.
But when the researchers blocked the flow of these chemicals from the brain to the heart, by severing the rats' spinal cords before killing them, it delayed ventricular fibrillation. As a result, the animals survived for three times as long as the rats whose heart-brain connection was left intact...
If researchers can find a way to "sever" the connection between the brain and the heart using drugs (rather than by actually severing the actual spinal cord), then it could be possible to administer these drugs to a person experiencing cardiac arrest. This would give health care workers more time to treat these patients, Borjigin said."
See: http://news.discovery.com/human/health/near-death-experiences-what-happens-in-the-brain-before-dying-1504071.htm
Tuesday, April 7, 2015
100 billion myth?
From a colleague.
http://www.theguardian.com/science/blog/2012/feb/28/how-many-neurons-human-brain
http://www.theguardian.com/science/blog/2012/feb/28/how-many-neurons-human-brain
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