Rare condition sometimes mistaken for cerebral palsy

An Ontario mother refused to accept her infant had cerebral palsy and fought to get a second opinion. It turns out she was right: he had another, easily treatable disease called dopamine-responsive dystonia.
The condition is part of a group of illnesses that cause repetitive and painful muscle contractions. It can be mistaken for cerebral palsy, but unlike CP, this condition can be treated, if patients get the right diagnosis.
At three months of age, Corinne Fewster-Gagne's son Beckham started showing symptoms of clenched fists, painful stiffness, and uncontrollable crying.
"I was shocked," she told CTV News. "The only question I could think to ask at the time was, 'Is my son ever going to be able to walk?'"
She refused to accept the diagnosis and searched for a second opinion.....

Educational Note - Children can have movement disorders that mimic CP. JR

http://www.ctv.ca/CTVNews/Health/20100919/dystonia-100919/

Another video...

http://www.youtube.com/watch?v=jxFO-SjA-P4&feature=player_embedded#!

After this weekend's terrible loss of a young Texan with a history of seizures , many patients and parents will have questions. While no answers are known about this individual, I thought to post two links for educational purposes.

My personal thoughts are for his family, friends and their entire community. Dr R.

Unmasking Silent Killer in Epilepsy

By ALIYAH BARUCHIN

On July 9, 2009, Steve Wulchin went to wake his 19-year-old son, Eric, in their home in Boulder, Colo. Eric had been given a diagnosis of epilepsy three years earlier, but other than that, his father said, “there was nothing out of the ordinary.” His seizures had been well controlled; he had not had one in six months.

Yet that morning, Mr. Wulchin found Eric lying on the floor. CPR and paramedics were too late; Eric had died at about 2:30 a.m.

The cause of Eric’s death was ultimately listed as Sudep, for sudden unexplained death in epilepsy. The syndrome accounts for up to 18 percent of all deaths in people with epilepsy, by most estimates; those with poorly controlled seizures have an almost 1 in 10 chance of dying over the course of a decade.

Yet many patients and their families never hear about Sudep until someone dies. Mr. Wulchin said none of Eric’s four neurologists ever mentioned it to the family.

“The message we got back was, ‘There’s no reason why he can’t live a long and normal life,’ ” he said. “It never occurred to me that this was a possibility.”

Now, physicians, researchers, advocates and relatives like Mr. Wulchin, a technology executive, are trying to raise awareness about Sudep. One of their goals is to establish registries of deaths and autopsy results, building databases to support future research.

Sudep most often affects young adults, typically ages 20 to 40, with a history of the convulsive seizures once known as “grand mal.” Others at risk include those with difficult-to-control seizures, or seizures at night; people who take a large number of anti-epileptic medications or take them irregularly; African-Americans with epilepsy; and people with epilepsy whose I.Q. is under 70......more....

http://www.nytimes.com/2010/07/27/health/27epil.html?_r=1&ref=global-home

What is SUDEP? Sudden Unexplained Death in Epilepsy

http://www.epilepsy.com/epilepsy/sudep_intro/

In 1868 Bacon, an eminent physician, noted the occurrence of ‘sudden death in a fit’ and almost 40 years later Spratling, one of the earliest American neurologists, recognised epilepsy as ‘a disease which destroys life suddenly and without warning through a single brief attack.’ Despite this, in the 1960’s it was suggested that ‘there is no reason why …someone with epilepsy… should not live as long as he would if he did not have epilepsy’ (Livingstone 1963). SUDEP is sudden unexpected death in someone with epilepsy, who was otherwise well, and in whom no other cause for death can be found, despite thorough post mortem examination and blood tests. The definition excludes people dying in status epilepticus and those who drown.

Awareness of SUDEP has increased over recent years, yet in many countries the medical profession has been reluctant to consider SUDEP. Indeed, there is little information on the number of cases in different countries. It has been estimated that the risk of sudden death is almost 24 times higher than for someone without epilepsy. Most people with newly diagnosed epilepsy will stop having seizures, and SUDEP is very rare amongst them. Searching for risk factors in this group would require meticulous follow up of large numbers of people. Studies of SUDEP have therefore usually been conducted in groups of people with more severe forms of epilepsy, such as specialist clinic populations, hospital inpatients or residential groups. The risk of SUDEP is elevated in these populations. It is estimated as between 1:500 and 1:1000 patient-years in community based populations with epilepsy, and even higher in people considered for surgery.

Obesity and Disturbed Sleep -Eat less, Move more, SLEEP More - Dr. Josh Rotenberg comments on new research on WABC News

http://abclocal.go.com/ktrk/video?id=7674779&syndicate=syndicate&section

Insufficient sleep increases the risk of obesity.

• Both body and brain need quality sleep.

Sleep must be of adequate quantity and quality.

Watch for the the vicious circle

• reduced sleep can increase body weight


• increased weight can cause sleep apnea


• sleep apnea fragments and reduces sleep
  
  
  
  Breaking the vicious cycle can help with weight loss. (tie in Denzel?)

If your child has a weight problem

• Maintain a healthy and firm sleep schedule


• Turn off video games, computer TV after dark


• Make behavioral change a family project


• Keep a sleep diary


• Watch for a sleep problem


• Call your physician for further testing

Sleep diary -http://www.pedzzz.blogspot.com/

Concussions cause mild traumatic brain injury. Watch this instructional video

Knocks to the head may seem funny in cartoons, sports replays, and YouTube videos, but even minor head injuries often lead to serious concussions. A concussion may leave no trace on a conventional MRI scan yet cause permanent memory loss, attention problems, and depression. NOVA scienceNOW investigates promising new leads in understanding this puzzling condition, which affects millions of people in the U.S., including many high-school and college athletes who suffer concussions yet are encouraged to return to the playing field.

http://www.pbs.org/wgbh/nova/body/brain-trauma.html

Does your child have a weight problem? Make sure they have sufficient sleep.

Children who sleep less than 8 hours, snack more and take in more fat and carbohydrates.

Actigraphy is a procedure performed in my office every day. JR

http://www.journalsleep.org/ViewAbstract.aspx?pid=27900

ADOLESCENT SLEEP DURATION AND ENERGY CONSUMPTION

The Association of Sleep Duration with Adolescents’ Fat and Carbohydrate Consumption

Allison Weiss¹; Fang Xu, MS¹; Amy Storfer-Isser, MS¹; Alicia Thomas, MS, RD, LD¹; Carolyn E. Ievers-Landis, PhD²; Susan Redline, MD, MPH¹

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Study Objectives: To investigate the relation between sleep duration and energy consumption in an adolescent cohort.
Design: Cross-sectional.
Setting: Free-living environment.
Participants: Two hundred forty adolescents (mean age 17.7 ± 0.4 years).
Measurements and Results: Daily 24-hour food-recall questionnaires and wrist-actigraphy measurements of sleep duration were employed to test the hypothesis that shorter weekday sleep duration (< p =" 0.004)" p =" 0.001).">Conclusion: Quantitative measures of macronutrient intake in adolescents were associated with objectively measured sleep duration. Short sleep duration may increase obesity risk by causing small changes in eating patterns that cumulatively alter energy balance.
Keywords: Sleep duration, diet, obesity, adolescents, 24-hour food recall

Citation: Weiss A; Xu F; Storfer-Isser A; Thomas A; Ievers-Landis CE; Redline S. The association of sleep duration with adolescents’ fat and carbohydrate consumption. SLEEP 2010;33(9):1201-1209.

Temple Grandin - Conversations from Penn State

Temple Grandin, one of the most internationally recognized autistics and a renowned expert in animal science talks about her life with autism and its influence on her work. She also discusses the new HBO movie based on her autobiography

This is a fantastic interview that covers many areas of Dr. Grandin's expertise in autism and animal behavior.

For parents of children with autism, I highly recommend her books and interviews. As an auditory learner, I am fascinated by how she thinks.

http://www.youtube.com/watch?v=zt_G7Zw5I8c&p=7FF103A53C2ACF4C&playnext=1&index=14

Comorbidity between epilepsy and sleep disorders.

This article reminds me to think about the broader illness experience in people with epilepsy. JR

Comorbidity between epilepsy and sleep disorders.

Manni R, Terzaghi M.

Epilepsy Res. 2010 Aug;90(3):171-7. Epub 2010 May 31.

Sleep Medicine and Epilepsy Unit, IRCCS C. Mondino National Institute of Neurology Foundation, Via Mondino 2, Pavia, Italy. raffaele.manni@mondino.it

Abstract

Despite being relatively common and potentially able to have clinical and pathophysiological consequences, the comorbidity between epilepsy and sleep disorders is poorly investigated in the literature and rarely taken into consideration by clinicians in general practice. There is increasing evidence that obstructive sleep apnoea (OSA) coexists in epilepsy (in 10% of unselected adult epilepsy patients, 20% of children with epilepsy and up to 30% of drug-resistant epilepsy patients). A few lines of evidence suggest that continuous positive airway pressure treatment of OSA in epilepsy patients improves seizure control, cognitive performance and quality of life. Parasomnias and epileptic seizures can coexist in the same subject making the differential diagnosis of these conditions particularly challenging. In childhood, a frequent association between epilepsy and NREM arousal parasomnias, enuresis and rhythmic movement disorder has been documented. A particular pattern of association has been found between nocturnal frontal lobe epilepsy (NFLE) and NREM arousal parasomnias, the latter being found in the personal or family history of up to one third of NFLE patients. As far as REM parasomnias are concerned, REM sleep behaviour disorder, unrecognised or misdiagnosed, has been found to co-occur in 12% of elderly epilepsy patients. Patients with epilepsy often complain of poor, non-restorative sleep; however, insomnia in epilepsy is poorly investigated, with the literature giving conflicting prevalence data and no information on the impact of this disorder on seizure control, or on the best therapeutic approach to insomnia in this particular group of patients. A greater awareness, among clinicians, of the comorbidities between sleep disorders and epilepsy may help to prevent misdiagnosis and mistreatment. Sleep hygiene measures in epilepsy need to be more comprehensive, taking into account the various pathologies that may underlie disordered sleep in epilepsy patients.

PMID: 20570109