Sunday, October 04, 2015

The link between brain injury and psychogenic seizures / pseudoseizures is....

I see this in children and teens as well after a concussion / head injury. JR

Traumatic brain injury and psychogenic seizures in veterans.

The Journal of Head Trauma RehabilitationSeptember 16, 2015
By Collette Evrard, Elizabeth Goy, Martin Salinsky, Daniel Storzbach


To evaluate a proposed seizure etiology of traumatic brain injury (TBI) as a risk factor for psychogenic nonepileptic seizures (PNESs), the effect of reported TBI severity on the diagnosis of PNES versus epileptic seizures (ESs), and the potential moderating role of posttraumatic stress disorder (PTSD).


Veterans with a diagnosis of PNES or ES during epilepsy monitoring at a Veterans Affairs Medical Center.


Retrospective review of seizure type, proposed seizure etiology, TBI severity, and PTSD.


Both PNES and ES groups were compared for TBI history and severity, and prior diagnosis of PTSD.


Traumatic brain injury was the proposed seizure etiology for 57% of 67 PNES patients versus 35% of 54 ES patients (P < .05). It was mild in 87% of PNES patients and 37% of ES patients (P < .001). Posttraumatic stress disorder increased the likelihood of diagnosing PNES versus ES in Veterans with mild TBI as the proposed seizure etiology.


Veterans with PNES commonly cite a TBI as the cause for seizures. Mild TBI was strongly associated with PNES versus ES. Posttraumatic stress disorder may moderate the development of PNES in Veterans with a history of mild TBI. Clinicians caring for Veterans with seizures may use these results in selecting patients for early diagnostic evaluation.

Familial Risks of Tourette Syndrome and Chronic Tic Disorders

JAMA PsychiatryJune 18, 2015
By Zheng Chang, David Cols, Kayoko Isomura, K Johan Larsson, Henrik Larsson, James F Leckman, Paul Lichtenstein, Christian Ruck, Eva Serlachius, Ana Vigil
Importance  Tic disorders, including Tourette syndrome (TS) and chronic tic disorders (CTDs), are assumed to be strongly familial and heritable. Although gene-searching efforts are well under way, precise estimates of familial risk and heritability are lacking. Previous controlled family studies were small and typically conducted within specialist clinics, resulting in potential ascertainment biases. They were also underpowered to disentangle genetic from environmental factors that contribute to the observed familiality. Twin studies have been either very small or based on parent-reported tics in population-based (nonclinical) twin samples.
Objective  To provide unbiased estimates of familial risk and heritability of tic disorders at the population level.
Design, Setting, and Participants  In this population cohort, multigenerational family study, we used a validated algorithm to identify 4826 individuals diagnosed as having TS or CTDs (76.2% male) in the Swedish National Patient Register from January 1, 1969, through December 31, 2009.
Main Outcomes and Measures  We studied risks for TS or CTDs in all biological relatives of probands compared with relatives of unaffected individuals (matched on a 1:10 ratio) from the general population. Structural equation modeling was used to estimate the heritability of tic disorders.
Results  The risk for tic disorders among relatives of probands with tic disorders increased proportionally to the degree of genetic relatedness. The risks for first-degree relatives (odds ratio [OR], 18.69; 95% CI, 14.53-24.05) were significantly higher than for second-degree relatives (OR, 4.58; 95% CI, 3.22-6.52) and third-degree relatives (OR, 3.07; 95% CI, 2.08-4.51). First-degree relatives at similar genetic distances (eg, parents, siblings, and offspring) had similar risks for tic disorders despite different degrees of shared environment. The risks for full siblings (50% genetic similarity; OR, 17.68; 95% CI, 12.90-24.23) were significantly higher than those for maternal half siblings (25% genetic similarity; OR, 4.41; 95% CI, 2.24-8.67) despite similar environmental exposures. The heritability of tic disorders was estimated to be 0.77 (95% CI, 0.70-0.85). There were no differences in familial risk or heritability between male and female patients.
Conclusions and Relevance  Tic disorders, including TS and CTDs, cluster in families primarily because of genetic factors and appear to be among the most heritable neuropsychiatric conditions.

Monday, September 28, 2015

Specific Language Impairment - Developmentla Language Disorder and abnomral EEG

EEG Abnormalities in Children with Speech and Language Impairment 

Bharati Mehta1 , V. K. Chawla2 , Manish Parakh3 , Poonam Parakh4 , Bharti Bhandari5 , Anoop Singh Gurjar6 

ABSTRACT Introduction: Epilepsy, a chronic condition of recurrent seizures, affects language, but the extent and nature of the language disturbance varies widely according to the type, severity, and cause of the epilepsy. There is paucity of literature on the electroencephalographic abnormalities in children with speech and language impairment. The present study was therefore planned to find the association of epileptiform EEG abnormalities in children with speech and language impairment and if present, their localization and lateralization to the language areas of the brain that are present predominantly in the left hemisphere. Materials and Methods: The study was conducted on Paediatric patients having speech and language impairment (n=94, age-2 to 8 years) selected on the basis of detailed history and neurologic examination. Video Electroencephalography (EEG) was performed as per American Clinical Neurophysiology Society guidelines using 16 channel RMS computerized EEG machine for a minimum of 40 minutes to capture both wakefulness and sleep along with activation procedures like hyperventilation (if feasible) and photic stimulation. EEG was reviewed for any abnormal EEG background, benign variants, interictal epileptiform discharges and ictal discharges. Results: In our cohort, 19.7% boys and 22.2% girls presented with seizures in their infancy and this gender difference was found to be statistically significant (p<0 .05="" 41.3="" 47.9="" 73.6="" 94="" a="" abnormal="" abnormalities.="" abnormalities="" also="" although="" and="" are="" associated="" background="" brain="" children="" complement="" conclusion:="" current="" definite="" difference.="" discharges="" distinct="" each="" eeg="" epileptiform="" exclusively="" findings="" focal="" frequency="" from="" gender="" generalized="" h2="" hemisphere="" higher="" history="" imaging="" impairment.="" in="" included:="" interictal="" is="" isolation="" it="" language="" left="" multifocal="" no="" occurring="" of="" or="" other="" out="" p="" patients="" pattern="" presence="" recommend="" routine="" seen="" seizures="" significant="" solely="" speech="" study="" such="" that="" the="" them="" there="" to="" was="" we="" with="" without="">

Link here

Language regression is observed both in autistic regression and as part of acquired epileptic aphasia (Landau-Kleffner Syndrome). We prospectively identified 177 children with language regression at four major medical centers, and their clinical characteristics were recorded. Their mean age at regression was 22.8 months. The mean time-to-specialist referral was 38 months of age. Most children (88%) met criteria for autism or manifested autistic features. Males (P = 0.02) and children less than 3 years of age who regressed (P = 0.016) had a higher probability of developing autistic behaviors. Seizures were more common in children who regressed after they reached 3 years of age (P < 0.001), and children with seizures were less likely to have associated autistic regression (P < 0.001). Electroencephalogram abnormalities were reported in 37% of patients and were more common in children with seizures (P < 0.001). At last follow-up, language function was impaired in 88% of the children, although some improvement was noted in 57%. We conclude that the loss of previously acquired language at any age, even if that language only includes a few words or communicative gestures, is often associated with a more global regression in cognition and/or behavior and has serious implications for future function. Early identification and referral of these children is necessary to allow for diagnosis and intervention.

Sunday, September 20, 2015

Six ways electronics disrupt neurophysiology and cause mood disturbance...

A really excellent piece sent to me by Ari Rotenberg. Late at night.....
Dr. Josh Rotenberg

Screentime Is Making Kids Moody, Crazy and Lazy

Computers at night upset physiology and cause sleep disorders...Dr Rotenberg
Children or teens who are “revved up” and prone to rages or—alternatively—who are depressed and apathetic have become disturbingly commonplace. Chronically irritable children are often in a state of abnormally high arousal, and may seem “wired and tired.” That is, they’re agitated but exhausted. Because chronically high arousal levels impact memory and the ability to relate, these kids are also likely to struggle academically and socially.
At some point, a child with these symptoms may be given a mental-health diagnosis such as major depressionbipolar disorder, or ADHD, and offered corresponding treatments, including therapy and medication. But often these treatments don’t work very well, and the downward spiral continues.

Wednesday, September 16, 2015

Forecast - A Chance of Protests at Memorial Hermann over woman arrested at OBGYN's office!

We are an independent practice and not owned by Memorial Hermann.

Yet, our main office is at Memorial City.

 If the forecast is "sunny with a chance of protests",  please leave early and use the covered parking lots to bypass any congestion.

Dr. Rotenberg

A Message from President & CEO Dan Wolterman

Dear Memorial Hermann Medical Staff Physician,

You may be aware of a recent incident regarding a patient being arrested at one of the Memorial Hermann Medical Group (MHMG) clinics. As a result, there has been some news coverage and online conversation that has inadvertently and unfortunately thrust Memorial Hermann into the immigration discussion in this country. As an affiliated physician of Memorial Hermann you should know the facts and truth about this situation: The patient's arrest was not about immigration or residency status.

The patient arrived at our clinic for routine care where she presented potentially false identification. For quality and safety reasons, our staff requests and verifies proper identification to ensure appropriate treatment. The patient was unable to provide another valid form of identification and in an effort to verify the authenticity of the suspicious driver's license, the office then called the licensing bureau of the Texas Department of Public Safety (DPS). DPS instructed our staff to contact local law enforcement to validate the driver's license number. This inquiry confirmed a false identification. Local law enforcement took this information and made the decision to arrest the patient. To our knowledge, this is a unique event in Memorial Hermann's history.

We did not ask for this individual to be arrested. This is a decision that was made by law enforcement, including the District Attorney's office. We did not press charges. We simply called DPS to question a potentially false identification.

At Memorial Hermann, our responsibility and commitment is to care for all patients - regardless of their race, ethnicity, color, religion, immigration or residency status. As you know, we do not ask our patients about residency or immigration status nor do we report an undocumented patient to law enforcement.

Nevertheless, in the coming days, we anticipate more attention to this issue, including a planned protest at our corporate offices at Memorial City on Thursday. Due to the anticipated protest, additional media attention, and heightened emotion around the immigration issue, we are asking our employees to be alert and vigilant about suspicious activity at their facility. Our concern is for the safety of our patients and staff. Please immediately contact security if you have a concern.

If approached by the news media or if you receive inquiries from the public, do not respond and immediately email the Corporate Communications team Please be mindful of our social media policy, as well.

We appreciate the great care and compassion you demonstrate daily to our patients and their families. You should be proud of our 108-year history of providing exceptional care to all patients in the region we serve. Annually, we treat approximately 2 million patients - many of whom are uninsured and/or potentially undocumented. Indeed, this past year, we provided more than $430 million towards improving access to health care for thousands of families in our region. We are a System that cares for all people.

What happened to the patient is unfortunate. We also appreciate the sensitivity of this matter. As such, we consider this an opportunity to evaluate our processes and if necessary, improve them. Thank you for all that you do. You are the reason our System is nationally recognized for providing the highest quality and safest care in the country.


Tuesday, September 08, 2015

Chromosomal Microarray Analysis for Intellectual Disabilities. What is a Microarray?

Chromosomal Microarray Analysis for Intellectual Disabilities

What is the need to strive for a genetic diagnosis?
A diagnostic chromosomal microarray will provide the medical care team, family, and patient with a firm diagnosis.

  • In several instances, ineffective or contraindicated therapies need not be initiated or stopped if they are already underway. The focus could then shift to appropriate medical care. 
  • In some children educational planning may be changed based on the test results. 
  • Some families might choose to limit medical care to palliative measures based on a diagnosis associated with a poor prognosis. 
  • The results of family testing to determine risk for future children can strongly influence reproductive choices, both positively when the risk appears low and negatively when the risk appears high. 
  • Establishing a specific genetic diagnosis by microarray can render moot extensive testing that most patients otherwise undergo for the diagnostic evaluation of ID: blood and urine tests for metabolic disorders, multiple brain MRIs requiring sedation, electroencephalograms, lumbar punctures for metabolic tests of spinal fluid, and skin and muscle biopsies. 
  • A positive microarray, especially when obtained early in the workup of a patient, could reduce both individual and societal costs associated with testing and medical care. (Michelson 2011; Tirosh & Jaffe 2011; Van Karnebeek & Stockler 2012) 

Microarray testing is widely available and its cost has been steadily declining. It is foreseeable that, as the cost of full exome sequencing comes down, whole exome testing may be the best way to perform the primary sequencing of the chromosomes, with the microarray remaining the best way to detect CNVs. The full interpretation of genomic testing would consist of an abnormal microarray, or a normal microarray in conjunction with whole exome sequencing. As technology moves forward, this prediction will require refinement.

Neurologists and geneticists tend to order CMA testing more frequently than other specialists. (Coulter et al. 2011) Of 49 respondents to a 2012 questionnaire-based survey sent to members of the AAN Child Neurology Section, all but one ordered microarray testing on a routine basis. 4 commented that they would refer the patient to colleagues in genetic medicine also to decide if the test should be ordered. Their reasons for referral were that either the approval process was easier for the medical geneticist or that their institution required a geneticist’s prior approval. Clinical utility, comfort with ordering and interpreting the test and ease of obtaining insurance coverage were the detriments for ordering the test. Unfamiliarity with the test, its interpretation, and difficulty of obtaining insurance coverage in some regions were the reasons for not ordering the tests. In one medical center, where more than a dozen health care providers evaluated patients with ID and dysmorphism, uninfluenced by insurance coverage, microarray ordering and testing frequencies varied from “almost always” to “never.” (Unpublished AAN survey 2012) This survey result, although limited by a 15% response rate, accords with the general experience indicating that the application of this technology still varies much. Large longitudinal studies of test ordering practices have not yet been done. This is one reason for the unavailability of data associated with utilization, costs and benefits. However, small sample studies have shown that positive test findings result in significant changes in medical care. (Coulter et al. 2011; Saam et al. 2008)


Nature Clinical Practice Neurology (2006) 2, 147-158
Received 13 July 2005 | Accepted 9 January 2006

Technology Insight: querying the genome with microarrays—progress and hope for neurological disease

Thursday, September 03, 2015

Management of Degenerative Cerebellar Disorders & Ataxia - Consensus Paper!

Here is a great summary of medical treatments for ataxia and cerebellar disorders. There is a lot of work to be done. JR

Consensus Paper: Management of Degenerative Cerebellar Disorders


Treatment of motor symptoms of degenerative cerebellar ataxia remains difficult. Yet there are recent developments that are likely to lead to significant improvements in the future. Most desirable would be a causative treatment of the underlying cerebellar disease. This is currently available only for a very small subset of cerebellar ataxias with known metabolic dysfunction. However, increasing knowledge of the pathophysiology of hereditary ataxia should lead to an increasing number of medically sensible drug trials. In this paper, data from recent drug trials in patients with recessive and dominant cerebellar ataxias will be summarized. 
There is consensus that up to date, no medication has been proven effective. 
Aminopyridines and acetazolamide are the only exception, which are beneficial in patients with episodic ataxia type 2. Aminopyridines are also effective in a subset of patients presenting with downbeat nystagmus. As such, all authors agreed that the mainstays of treatment of degenerative cerebellar ataxia are currently physiotherapy, occupational therapy, and speech therapy. 
For many years, well-controlled rehabilitation studies in patients with cerebellar ataxia were lacking. Data of recently published studies show that coordinative training improves motor function in both adult and juvenile patients with cerebellar degeneration. Given the well-known contribution of the cerebellum to motor learning, possible mechanisms underlying improvement will be outlined. There is consensus that evidence-based guidelines for the physiotherapy of degenerative cerebellar ataxia need to be developed. Future developments in physiotherapeutical interventions will be discussed including application of non-invasive brain stimulation.
Keywords: Cerebellum, Cerebellar ataxia, Motor rehabilitation, Physiotherapy, Drug therapy

Ampyra for ataxia?  Literature references

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12. Alvina K, Khodakhah K. The therapeutic mode of action of 4-aminopyridine in cerebellar ataxia. J Neurosci. 2010;30:7258–68. [PMC free article] [PubMed]
13. Weisz CJ, Raike RS, Soria-Jasso LE, Hess EJ. Potassium channel blockers inhibit the triggers of attacks in the calcium channel mouse mutant tottering. J Neurosci. 2005;25:4141–5. [PubMed]
14. Claassen J, Teufel J, Kalla R, Spiegel R, Strupp M. Effects of dalfampridine on attacks in patients with episodic ataxia type 2: an observational study. J Neurol. 2013;260:668–9. [PubMed]
15. Hufner K, Stephan T, Kalla R, Deutschlander A, Wagner J, Holtmannspotter M, et al. Structural and functional MRIs disclose cerebellar pathologies in idiopathic downbeat nystagmus. Neurology.2007;69:1128–35. [PubMed]
16. Wagner JN, Glaser M, Brandt T, Strupp M. Downbeat nystagmus: aetiology and comorbidity in 117 patients. J Neurol Neurosurg Psychiatry. 2008;79:672–7. [PubMed]
17. Kalla R, Deutschlander A, Hufner K, Stephan T, Jahn K, Glasauer S, et al. Detection of floccular hypometabolism in downbeat nystagmus by fMRI. Neurology. 2006;66:281–3. [PubMed]
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19. Tsunemi T, Ishikawa K, Tsukui K, Sumi T, Kitamura K, Mizusawa H. The effect of 3,4-diaminopyridine on the patients with hereditary pure cerebellar ataxia. J Neurol Sci. 2010;292:81–4.[PubMed]
20. Kalla R, Spiegel R, Claassen J, Bardins S, Hahn A, Schneider E, et al. Comparison of 10-mg doses of 4-aminopyridine and 3,4-diaminopyridine for the treatment of downbeat nystagmus. J Neuroophthalmol.2011;31:320–5. [PubMed]
21. Judge SI, Bever CT., Jr Potassium channel blockers in multiple sclerosis: neuronal Kv channels and effects of symptomatic treatment. Pharmcol Ther. 2006;111:224–59. [PubMed]
22. Claassen J, Spiegel R, Kalla R, Faldon M, Kennard C, Danchaivijitr C, et al. A randomised double-blind, cross-over trial of 4-aminopyridine for downbeat nystagmus—effects on slowphase eye velocity, postural stability, locomotion and symptoms. J Neurol Neurosurg Psychiatry. 2013 doi: 10.1136/jnnp-2012-304736. [PubMed] [Cross Ref]
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24. Averbuch-Heller L, Tusa RJ, Fuhry L, Rottach KG, Ganser GL, Heide W, et al. A double-blind controlled study of gabapentin and baclofen as treatment for acquired nystagmus. Ann Neurol.1997;41:818–25. [PubMed]
25. Schniepp R, Jakl V, Wuehr M, Havla J, Kumpfel T, Dieterich M, et al. Treatment with 4-aminopyridine improves upper limb tremor of a patient with multiple sclerosis: a video case report. Mult Scler. 2013;19:506–8. [PubMed]
26. Schniepp R, Wuehr M, Ackl N, Danek A, Brandt T, Strupp M, et al. 4-Aminopyridine improves gait variability in cerebellar ataxia due to CACNA 1A mutation. J Neurol. 2011;258:1708–11. [PubMed]
27. Schniepp R, Wuehr M, Neuhaeusser M, Benecke AK, Adrion C, Brandt T, et al. 4-Aminopyridine and cerebellar gait: a retrospective case series. J Neurol. 2012;259:2491–3. [PubMed]
28. Giordano I, Bogdanow M, Jacobi H, Jahn K, Minnerop M, Schoels L, et al. Experience in a short-term trial with 4-aminopyridine in cerebellar ataxia. J Neurol. 2013;260:2175–6. [PubMed]
29. Etzion Y, Grossman Y. Highly 4-aminopyridine sensitive delayed rectifier current modulates the excitability of guinea pig cerebellar Purkinje cells. Exp Brain Res. 2001;139:419–25. [PubMed]
30. Hourez R, Servais L, Orduz D, Gall D, Millard I, de Kerchove d'Exaerde A, et al. Aminopyridines correct early dysfunction and delay neurodegeneration in a mouse model of spinocerebellar ataxia type 1. J Neurosci. 2011;31:11795–807. [PubMed]