Sunday, May 24, 2015

Memorial City – Pediatric Neurology Medical Assistant..Looking for a Great MA or LVN

Memorial City – Pediatric Neurology Medical Assistant or LVN

Make a difference every day!  Specialist in Memorial City is looking for a Full Time Medical Assistant or LVN to join our team.

Experience in pediatrics, neurology back office a plus!

This position requires computer skills as we are an EMR based practice.

This position requires a friendly, patient, reliable, and positive  team-player.

The ideal candidate will possess the following traits:

  • Multi-tasker
  • Exceptional customer service
  • Attention to detail
  • Vibrant personality & positive attitude
  • Ready for the challenge of a fast-paced work environment

We offer an excellent benefit package which includes:

  •  Medical
  • Dental
  •  Vision
  • Supplemental Insurances

Please respond with a resume and cover letter

to Miangela Kanaway at

Saturday, May 23, 2015

Snoring and sleep apnea in pregnancy can cause problems with...

 2015 Jan 7. pii: S0002-9378(15)00002-2. doi: 10.1016/j.ajog.2015.01.001. [

The effect of maternal sleep-disordered breathing on the infant's neurodevelopment.



We sought to examine the effect of maternal sleep-disordered breathing (SDB) on infant general movements (GMs) and neurodevelopment.


Pregnant women with uncomplicated full-term pregnancies and their offspring were prospectively recruited from a community and hospital low-risk obstetric surveillance. All participants completed a sleep questionnaire on second trimester and underwent ambulatory sleep evaluation (WatchPAT; Itamar Medical, Caesarea, Israel). They were categorized as SDB (apnea hypopnea index >5) and controls. Infant GMs were assessed in the first 48 hours and at 8-11 and 14-16 weeks of age. At 12 months of age the Infant Developmental Inventory and the Brief Infant Sleep Questionnaire were administered.


In all, 74 women and their full-term infants were studied. Eighteen (24%) women had SDB. Mean birthweight was 3347.1 ± 423.9 g. Median Apgar score at 5 minutes was 10 (range, 8-10). In adjusted comparisons, no differences were found between infants born to mothers with SDB and controls in GM scores in all 3 evaluations. Low social developmental score was detected at 12 months in 64% of infants born to SDB mothers compared to 25% of infants born to controls (adjusted P = .036; odds ratio, 16.7). Infant snoring was reported by 41.7% of mothers with SDB compared to 7.5% of controls (P = .004).


Our preliminary results suggest that maternal SDB during pregnancy has no adverse effect on neonatal and infant neuromotor development but may affect social development at 1 year.
Copyright © 2015 Elsevier Inc. All rights reserved.


fetal outcome; neurodevelopment; pregnancysleep-disordered breathing

Why do children With Down Syndrome have seizures? Trisomy 21 and infantile spasms commonly occur...

Epileptic Disord. 2011 Mar;13(1):1-7. doi: 10.1684/epd.2011.0415.

Epilepsy in children with Down syndrome.


This review discusses the various aspects of epilepsy in Down syndrome (DS) from the perspective of paediatric neurology.

DS is the most common genetic cause of mental retardation (MR) with a reported prevalence of epilepsy of 1-13%.

Infantile spasms (IS) or West syndrome (WS) is the most frequent epilepsy syndrome in children with DS. IS occur in 0.6-13% of children with DS, representing 4.5-47% of seizures in these children.

Curiously, these patients have electroencephalographic (EEG) characteristics of idiopathic rather than symptomatic WS. Despite a lack of consensus on therapeutic approach, no significant difference has been reported among the different regimens with regards to achieving clinical remission or EEG normalisation. 

It appears that DS patients have better seizure control compared to other patients with symptomatic IS, and early initiation of appropriate treatment may contribute to the prevention of late seizure development and better developmental outcome.

Lennox-Gastaut syndrome (LGS) also exhibits some distinctive features in children with DS including later onset and high incidence of reflex seizures. Other seizure types including partial and generalised tonic clonic seizures have also been described in children with DS.

There is a high rate of EEG abnormalities in children with DS, even among children without epilepsy, however, no patterns specific to DS have been identified and EEG does not correlate with outcome.

Various cellular and molecular mechanisms contribute to epileptogenesis in DS and offer an interesting field of study.

Sleep apnea is common AND commonly severe in DiGeorge Syndrome

Sleep apnea is common AND commonly severe in DiGeorge Syndrome. I cannot understand why so few children get a sleep study before airway surgery. - JR

22q11.2 Deletion syndrome and obstructive sleep apnea

Otolaryngologic problems are common in the 22q11.2 deletion syndrome (DS) population. Structural anomalies and retrognathia may predispose these patients to obstructive sleep apnea (OSA). The current association of OSA in this population is not defined.


(1) Define the frequency of OSA in 22q11.2 DS patients referred for polysomnography (PSG). (2) Determine if OSA is present before and/or after surgery to correct velopharyngeal insufficiency (VPI). (3) Determine effect of prior adenotonsillectomy on OSA following VPI surgery.


Retrospective review of children treated from 2006 to 2013 in a tertiary care setting identified by ICD-9 758.32 (velocardiofacial syndrome) and 279.11 (DiGeorge syndrome). Surgical history and PSG data were abstracted from the identified records.


We identified 323 patients with 22q11.2 DS; 57 (18%) were screened at any point in care using PSG and 15 patients had PSG at multiple time points in care. In most cases, indication for PSG was sleep disordered breathing or pre-operative planning. Overall, 33 patients met criteria for OSA on PSG, accounting for 10.2% of our study population; however, the percentage of patients with OSA was significantly higher within the group of 57 patients (58%) who were screened with PSG.
Twenty-one of the screened patients (54%) had PSG prior to any pharyngeal surgery and had mild to severe OSA (obstructive apnea/hypopnea index (AHI): median 5.1/h, range 1.9–25.6). Eighteen patients had PSG after adenotonsillectomy; 8 of these patients (44%) had mild to moderate OSA (median AHI 2.95/h, range 1.9–5.4). Seventeen patients had PSG after VPI surgery (palatopharyngeal flap (PPF) n = 16, sphincteroplasty n = 1). Nine of these patients (53%) had mild to severe OSA (median AHI 3/h, range 1.9–15). Patients who underwent adenotonsillectomy prior to VPI surgery had similar prevalence of OSA (50%, n = 12) than those who did not (OSA: 60%, n = 5, p = 0.70). Most children had mild OSA.


Prevalence of OSA in this population of 22q11.2 DS patients is higher than expected in the general population. OSA risk is highest after VPI surgery, and may be decreased by adenotonsillectomy. Providers should have awareness of increased prevalence of OSA in patients with 22q11.2 DS. Close monitoring for OSA is warranted given the likelihood of subsequent surgical intervention that can worsen OSA.

Friday, May 22, 2015

Relationship between epilepsy and autism may be...

A study looks into the relationship that may exist between epilepsy and autism.

Researchers at the University of Veracruz (UV), in the west coast of Mexico, study the neurobiological link between the Autism Spectrum Disorder (ASD) and epilepsy, in order to understand the reason why the brain of an autistic child is 20-30 percent more susceptible to seizures that an infant without this condition.

To know said relationship, Angel Alberto Puig Lagunes, a doctoral student in Brain Research of the UV works with two experimental models, one with autism and other of epilepsy because 30 percent of autistic people may have at some point in their lives some form of epilepsy, especially during childhood and adolescence.

The research seeks to understand the differences in the amount of neurotransmitters and receptors that may determine susceptibility to seizures. "If we know what happens in the brain structures of lab rats using these models, we can generate new insights into the characteristics that patients with ASD present that make them more susceptible to having seizures and may in the future provide new drugs or non-pharmacological interventions treatments for such illness, "says Angel Puig.

The World Health Organization estimates that worldwide one in 160 children under 12 years of age has autism. In Mexico, there are about 46,000 people with this disease.
The specialist refers that one to 1.5 percent of the global population have epilepsy, the equivalent to 50 million people. Various epidemiological data indicate that between 20 and 35 percent of children with autism have this condition; however, the neurobiological causes of such comorbidity are yet unknown.
In response, Puig Lagunes in collaboration with Maria Leonor López-Meraz, Jorge Manzo Denes and Rebeca Toledo Cárdenas assess neurochemical changes that occur in brain structures such as the hippocampus, amygdala, cerebellum and frontal cortex exposed to valproic acid, areas involved in autism and epilepsy.
The researcher analyzes seizures through drugs like pentylenetetrazol, used to induce crisis, and valproic acid, an anticonvulsant that is applied prenatally to rats, since research has shown that when it is administered to a pregnant woman there is greater likelihood that her child is born with ASD or congenital malformations.
With this method, says Angel Puig, we study whether fetuses exposed to the drug are more susceptible to presenting seizures and can identify, at a neurobiological level, what happens in the brain of an autistic person.
The results of this research show that like children with autism, laboratory rats that were prenatally exposed to valproic acid are more susceptible to presenting tonic-chronic seizures, common in people with generalized epilepsy.
With this research, Angel Puig won third place at the Annual Congress of the Mexican Chapter of the International League Against Epilepsy (Camelice) conducted in León, Guanajuato, center of Mexico.
Read more here

Thursday, May 21, 2015

What causes restless legs syndrome? Why do so many people have it?

Do kids get RLS? Why do children get RLS? Listen to this on NPR JR

When Brain Shuts Down, Legs Kick into Overdrive

 by David Kestenbaum

It's maddening to have a feeling that you can't explain. When I was a kid on long car rides, I would sometimes experience a strange sensation in my legs. I felt like I had to move my legs. When I did, the feeling would go away for a few seconds but then come back.
It struck at the worst times — my legs kept me awake when I was tired and needed to sleep. As an adult, the feeling periodically comes back to haunt me, during a slow movie, on airplane rides, or having a late drink at a bar...
I had no idea what this was until a few years ago when I found a Web site about something called Restless Legs Syndrome (RLS). I had that eureka moment people must have when they find out that what ails them has a name. "Yes!" I thought, "THIS IS WHAT I HAVE!"
My case is fairly tame. People with severe forms of Restless Legs Syndrome are sleep deprived and miserable.
Jumping Legs
The number of people affected by RLS is somewhat uncertain, but one large study found that almost 8 percent of people in the United States have experienced restless legs sometime in the past year. Three percent are bothered by it two or more times a week. And "bothered" probably isn't the right word — the study categorizes these people as experiencing "moderate or extreme distress."
People with RLS sometimes describe a "tugging" or "creepy crawly" sensation. Until recently, an average physician was unlikely to know what it was.
There are some early references to what appears to be RLS in the scientific literature. An English physician named Thomas Willis wrote a description in 1683:
"Wherefore to some, when being in bed they betake themselves to sleep, presently in the arms and legs. Leaping and contractions of the tendons and so great a restlessness and tossing of the members ensure, that the diseased are no more able to sleep, than if they were in the place of the greatest torture!"
.....Earley has a pet theory that RLS may be the body's way of reacting to reduced iron in the brain and saying, in essence, "Go get some iron!"
"5,000 or 10,000 years ago, the major source of iron was meat," he says. "So the guy out running around... was more likely to find meat and iron than the other guy sitting warmly in his cave keeping comfortable."
Studies indicate the RLS is more common in people from Scandinavia and northern Europe. Earley jokes that this could explain the trips taken by the Vikings.
"What could possibly possess a bunch of guys to get in a boat in the middle of winter and row across the Atlantic," he says, "other than a bad case of restless legs!".....

Tuesday, May 19, 2015

Study: Girls diagnosed with autism later than boys are

A study shows that girls are diagnosed with autism later than boys are.

Current statistics on autism spectrum disorder (ASD) show that boys are nearly five times more likely than girls to have autism. Now a new study proves that in addition to being diagnosed less, girls are also diagnosed at a later age than boys.
The study, conducted by the Kennedy Krieger Institute in in Baltimore, Maryland, analyzed data from the Institute’s Interactive Autism Network (IAN), an online information registry of nearly 50,000 people affected by autism and their families.  Researchers took into account the age that both boys and girls were diagnosed with autism for 9,932 children, and Social Responsiveness Scale data from 5,103 children, which identifies the presence and severity of social impairment.
Results showed that girls with a type of autism called pervasive developmental disorder (PDD)— which is characterized by delays in the development of socialization and communication skills— were diagnosed at an average age of 4 years old, compared to 3.8 years old in boys. In addition to PPD diagnosis, researchers found that Asperger’s syndrome diagnoses also happened later for girls – at 7.6 years old compared to 7.1 years of age for boys.
“The later diagnosis of girls appears to be tied to their areas of delay being less apparent, showing up more as shyness and quietness rather than the more unusual behaviors seen in boys, ” Dr. Paul Lipkin, study author and director of the Interactive Autism Network at Kennedy Krieger told
Lipkin said findings suggest that when it comes to social cognition, or the ability to interpret social cues, girls struggle more than boys, while boys have more difficulty with more obvious symptoms like severe mannerisms and repetitive behaviors.
“At the present time, autism screeners are not designed to look at boys and girls differently. This and other studies suggest that such may be needed, particularly around social skill development,” Lipkin said. “So parents, pediatric clinicians, therapists, educators now should give careful consideration to girls who are having difficulties in social situations and assist these girls early.”
Researchers noted an increase in the number of girls diagnosed with autism from 2010-2013 compared to the statistic measured four years earlier. Lipkin said he thinks the reason for the rise might be better public awareness and screening methods.
“We need to look at large groups of girls with autism and better understand their developmental pathways, in order to find the best means for their early identification and to find the best treatments for the challenges they experience,” he said. “One can no longer assume that boys and girls with autism are alike.”
Lipkin said he hopes the findings help change the way autism is diagnosed, and that further research will determine whether less recognizable symptoms in girls are not only leading to later diagnosis, but also under-identification of the condition.
“We need to find the best ways to identify those at both ends of the spectrum, those with severe problems and those with milder problems in social development,” he said. “The quiet girl with social difficulties may have an ASD and may benefit from special treatments aimed at these delays in social development.”
Read more here

Sunday, May 17, 2015

When is the right time to get a sleep study done? When you feel...

This article explains when might be the appropriate time to get a sleep study done.

The long term effects of sleep deprivation can leave you physically and emotionally drained, and can have a serious effect on your overall health. Often times, people don’t necessarily realize that certain symptoms they are experiencing could actually be signs of an underlying sleep disorder. Common symptoms of a sleep disorder include:
  • Waking up with a sore or dry throat
  • Loud snoring
  • Occasionally waking up with a choking or gasping sensation
  • Sleepiness or lack of energy during the day
  • Sleepiness while driving
  • Morning headaches
  • Restless sleep
  • Forgetfulness and mood changes
  • Recurrent awakenings or difficulty going to sleep
If you are experiencing any of these symptoms, there are things you can do to improve your sleep hygiene and hopefully alleviate sleep disturbances.  For instance, avoid caffeine consumption or eating a heavy meal in the evenings. Establish a pre-sleep routine to help you wind-down and prepare for sleep. Do something that is relaxing for you, such as turning off electronic devices, dimming the lights, taking a warm bath, listening to soft, calming music or reading a book.
If you have tried methods to improve your sleep hygiene, yet are still experiencing symptoms of a sleep disorder, it is time to talk to your doctor about getting a sleep study. Many people are apprehensive about sleep studies because they are uncomfortable with the thought of sleeping in an unfamiliar place while being monitored. However, Cone Health Sleep Disorders Centers (at Annie Penn Hospital and in Greensboro) have designed their facilities to feel like you are staying the night in a hotel room. Patients are also invited to bring pillows, blankets or other items from home to increase their comfort level. And remember, the benefits of having a sleep study administered and a treatment plan tailored to your condition well out-weighs the detrimental effect long term sleep deprivation can have on your overall health.
Read more here

Tuesday, May 12, 2015

Do you have ataxia? Does your child have ataxia? Go to sleep! Effects on cognition, affect, and quality of life are...

Free access article on an important topic for illness management. - JR

Image result for sleep child 2014 May 15;10(5):535-43. doi: 10.5664/jcsm.3706.

The effects of sleep dysfunction on cognition, affect, and quality of life in individuals with cerebellar ataxia.



Cerebellar ataxia comprises a group of debilitating diseases that are the result of progressive cerebellar degeneration. Recent studies suggest that, like other neurodegenerative diseases, sleep impairments are common in cerebellar ataxia. In light of the role of sleep in mood regulation and cognition, we sought to assess interactions between sleep, cognition, and affect in individuals with cerebellar ataxia.


A survey of 176 individuals with cerebellar ataxia was conducted. The battery of instruments included a modified International Cooperative Ataxia Rating Scale, Pittsburgh Sleep Quality Index, Restless Leg Syndrome Questionnaire, REM Behavior Disorder Questionnaire, Beck Depression Inventory, Epworth Sleepiness Scale, and a Composite Cognitive Questionnaire.


Fifty-one percent of individuals indicated significant sleep disturbances on the Pittsburgh Sleep Quality Index, 73% of participants had two or more symptoms of restless leg syndrome, and 88% had two or more symptoms of REM behavior disorder. Ataxia severity, based on the modified International Cooperative Ataxia Rating Scale, predicted scores on the Pittsburgh Sleep Quality Index, the Epworth Sleepiness Scale and REM Behavior Disorder Questionnaire. Median split analyses revealed that cognitive function appeared to be reduced and depressive symptoms were greater for those individuals with poor subjective sleep quality and severe RLS. Importantly, sleep appears to play a mediatory role between disease severity and depressive symptoms.


These results suggest that disturbed sleep may have detrimental effects on cognition and affect in individuals with cerebellar ataxia. While objective measures are needed, such results suggest that treating sleep deficits in these individuals may improve cognitive and mental health as well as overall quality of life.


affect; ataxia; cerebellum; cognition; sleep

Sunday, May 10, 2015

Genes may be linked to autism and higher intelligence

What causes autism? A study claims that genes that may indicate an increased autism risk may also indicate a person has higher intelligence.JR

Genes believed to increase the risk of autism may also be linked with higher intelligence, a new study suggests.
Researchers analyzed the DNA of nearly 10,000 people in Scotland and also tested their thinking abilities. On average, those who had genes associated with autism scored slightly higher on the thinking (cognitive) tests.
Having autism-linked genes doesn't mean that people will develop the disorder, the researchers noted.
Similar evidence of an association between autism-linked genes and intelligence was found in previous testing of 921 teens in Australia, according to the study published March 10 in the journal Molecular Psychiatry.
"Our findings show that genetic variation which increases risk for autism is associated with better cognitive ability in non-autistic individuals," said study leader Toni-Kim Clarke, of the University of Edinburgh in Scotland.
"As we begin to understand how genetic variants associated with autism impact brain function, we may begin to further understand the nature of autistic intelligence," Clarke said in a university news release.
Another researcher went further. "This study suggests genes for autism may actually confer, on average, a small intellectual advantage in those who carry them, provided they are not affected by autism," Nick Martin, head of the Genetic Epidemiology Laboratory at the Queensland Institute for Medical Research in Australia, said in the news release.
While 70 percent of people with autism have intellectual disabilities, some people with the disorder have higher-than-average nonverbal intelligence, the study authors noted.
The study only revealed an association, and not a cause-and-effect link, between autism-related genes and intelligence.
Read more here

Study: Premature birth linked to altered brain connectivity and developmental disorders

According to a recent study, premature birth is linked to altered brain connectivity.- JR

Premature birth can alter the connectivity between key areas of the brain, according to a new study led by King's College London. The findings should help researchers to better understand why premature birth is linked to a greater risk of neurodevelopmental problems, including autistic spectrum disorders and attention deficit disorders.

The NIHR-funded study, published in the journal PNAS, used functional magnetic resonance imaging (fMRI) to look at specific connections in the brains of 66 infants, 47 of whom were born before 33 weeks and were therefore at high risk of neurological impairment, and 19 born at term. The brain connections investigated were between the thalamus and the cortex, connections which develop rapidly during the period a preterm infant is cared for on a neonatal unit.

Researchers found that those born in the normal window of birth (37-42 weeks) showed a remarkably similar structure to adults in these brain regions, strengthening existing evidence that the brain's network of connections is quite mature at the time of birth.

However, infants born prematurely (before 33 weeks gestation) were found to have less connectivity between areas of the thalamus and particular areas of the brain's cortex known to support higher cognitive functions, but greater connectivity between the thalamus and an area of primary sensory cortex which is involved in processing signals from the face, lips, jaw, tongue, and throat.
The greater the extent of prematurity, the more marked were the differences in the pattern of brain connectivity.

The authors suggest that the stronger connections involving face and lips in babies born preterm may reflect their early exposure to breastfeeding and bottlefeeding, while the reduced connectivity in other brain regions may be linked to the higher incidence of difficulties seen in later childhood.
Dr Hilary Toulmin, first author from the Centre for the Developing Brain at King's College London, said: 'The next stage of our work will be to understand how these findings relate to the learning, concentration and social difficulties which many of these children experience as they grow older.'
Professor David Edwards, senior author from the Centre for the Developing Brain at King's College London, said: 'The ability of modern science to image the connections in the brain would have been inconceivable just a few years ago, but we are now able to observe brain development in babies as they grow, and this is likely to produce remarkable benefits for medicine.'
Read more here

Saturday, May 09, 2015

Study identifies genetic risk for childhood sleepwalking

Does your child sleep walk? Why do we sleep walk? 


Yes, partially. 

But, one should look for the trigger...sleep apnea, restless legs. Seizures can look like sleep walking and only occur in sleep. Why do we sleep walk? Ask your doctor.  - JR

In Texas or nearby states you can contact us for an appointment.

Study identifies genetic risk for childhood sleepwalking

According to the American Academy of Sleep Medicine, as many as 17% of children sleepwalk. Now, a new study suggests children are much more likely to do so if their parents have a history of sleepwalking, indicating there may be a genetic element to the disorder.

A girl about to sleepwalk
Children whose parents both had a history of sleepwalking were seven times more likely to sleepwalk themselves.
Dr. Jacques Montplaisir, of the Hopital du Sacre-Coeur de Montreal in Canada, and colleagues also found a smaller association between parental history of sleepwalking and increased risk of sleep terrors among offspring.
The researchers publish their findings in the journalJAMA Pediatrics.
Sleepwalking is most common in childhood, particularly between the ages of 3 and 7 years, while sleep terrors - episodes of screaming, flailing and intense fear during sleep - often occur between the ages of 4 and 12 years.
While both disorders - known as parasomnias - often wane during adolescence, they can sometimes persist or appear in adulthood, particularly sleepwalking. It is estimated that around 4% of adults in the US sleepwalk.
For their study, Dr. Montplaisir and colleagues set out to assess the prevalence of sleepwalking and night terrors in childhood, to determine whether there is any link between the two conditions later in childhood, and to establish whether a parental history of sleepwalking influences a child's risk of sleepwalking or sleep terrors.
The team analyzed sleep data from 1,940 children who were a part of the Quebec Longitudinal Study of Child Development. The children were born in 1997 and 1998 and studied between 1999 and 2011.

Blue Eyes? Why do people have blue eyes? You share a common mutant ancestor!

Why do people have blue eyes? Interesting human genetic story. - JR

Blue-eyed humans have a single, common ancestor

New research shows that people with blue eyes have a single, common ancestor. A team at the University of Copenhagen have tracked down a genetic mutation which took place 6-10,000 years ago and is the cause of the eye color of all blue-eyed humans alive on the planet today.
What is the genetic mutation
"Originally, we all had brown eyes," said Professor Hans Eiberg from the Department of Cellular and Molecular Medicine. "But a genetic mutation affecting the OCA2 gene in our chromosomes resulted in the creation of a "switch," which literally "turned off" the ability to produce brown eyes." The OCA2 gene codes for the so-called P protein, which is involved in the production of melanin, the pigment that gives colour to our hair, eyes and skin. The "switch," which is located in the gene adjacent to OCA2 does not, however, turn off the gene entirely, but rather limits its action to reducing the production of melanin in the iris -- effectively "diluting" brown eyes to blue. The switch's effect on OCA2 is very specific therefore. If the OCA2 gene had been completely destroyed or turned off, human beings would be without melanin in their hair, eyes or skin colour -- a condition known as albinism.
Limited genetic variation
Variation in the colour of the eyes from brown to green can all be explained by the amount of melanin in the iris, but blue-eyed individuals only have a small degree of variation in the amount of melanin in their eyes. "From this we can conclude that all blue-eyed individuals are linked to the same ancestor...

Link between epilepsy and autism shows...

Four studies investigate the link between epilepsy and autism.

Epilepsy affects nearly 30 percent of all people with autism spectrum disorder (ASD), a neurobehavioral condition marked by impaired social and language development. Conversely, many patients with epilepsy display ASD-like behavior. Recent studies suggest that epileptic seizures impair the neural pathways needed for socialization, but the details of this process remain unclear.

Four studies presented at the American Epilepsy Society's recent Annual Meeting delve deeper into this relationship, revealing biological mechanisms and clinical findings that could help advance treatments for patients with both disorders.
Jennifer Avallone, DO, and colleagues retrospectively examined the video EEG findings and clinical records of 53 children and adults diagnosed with both epilepsy and ASD. The authors uncovered abnormal video EEG findings in 50 of the 53 records studied. Clinical and EEG records indicated that 40% of the patients had focal epilepsy, 30% had generalized epilepsy, 25% had both focal and generalized epilepsy and 5% had an unclear diagnosis. During the period between seizures, subclinical epileptiform activity occurred in 85% of the studies, while non-epileptic abnormalities in EEG activity were observed in 40% of the studies.
"The presence of epilepsy is an important finding in patients with autism spectrum disorder," says Dr. Avallone. "Exploring the variations in EEG activity between and during seizures, and how those variations relate to genetic and behavioral findings in people with ASD, could greatly assist with the management of both conditions."
In a second study, Andrey Mazarati, MD, PhD, and colleagues investigate the relationship between autism-like behavior and epilepsy associated with maternal infection. Previous animal studies have potentially linked epilepsy and autism by showing that immune activation in a pregnant mouse can trigger two immune molecules -- interleukin-6 (IL-6) and interleukin-1β (IL-1β) -- in the offspring, thereby exacerbating the faulty signal transmission through an area of the brain known as the hippocampus.
The authors explored whether epilepsy and ASD might occur concurrently in another established mouse model of epilepsy known as the intrahippocampal kainic acid model. Surprisingly, the authors report fewer seizures in mouse offspring that displayed autism-like behavior and had IL-6 activation. At the same time, more severe epilepsy was observed in mouse offspring with the over-production of both IL-6 and IL-1β. According to the authors, the mouse model reveals evidence for a rivalry, rather than cooperation, between autism- and epilepsy-like features in certain circumstances.
"These observations suggest that the processes contributing to the autism-epilepsy connection are highly complex," says Dr. Mazarati. "Studies exploring the relationship between autism and epilepsy must take this complexity into account when establishing a proper experimental design."
A third study by Mirret El-Hagrassy, MD, and colleagues explore the neurological, physical, and behavioral characteristics of patients diagnosed with ASD, epilepsy and a rare condition known as electrical status epilepticus of slow wave sleep (ESES) that develops in childhood. ESES is marked by neurological/psychological impairment, motor delays, epilepsy, and finding electrical status epilepticus during slow wave sleep on EEG.
The authors analyzed retrospective data from forty-four patients with ESES who underwent video EEG monitoring and were treated with high doses of diazepam during the night to regulate brain activity. Out of those forty-four patients, six had ASD. All ASD patients had communication difficulties, and seemed more likely than the ESES patients without ASD to have language and reading learning disabilities. Four of the ASD patients had normal brain MRIs, but most were done years earlier.
EEG seemed to show some differences in spike locations in the ASD group compared to the group without ASD, the authors report. Overall, both groups largely improved after diazepam with regard to seizure control and neurocognitive status, but comparison between the two groups was difficult.
"ASD can be associated with focal epilepsy, ESES, and multiple neurocognitive comorbidities. Spike locations during ESES in patients with ASD appear to vary on initial analysis from those with ESES but no ASD. Comorbidities also vary between the 2 groups. These differences are difficult to interpret with such small numbers, but may potentially render clues to cortical areas involved in different comorbidities of ASD and ESES, even when imaging is normal. Spike suppression may have implications beyond seizure control," notes Dr. El-Hagrassy. "Further multicenter prospective studies are needed."
In a fourth study, Megan Leigh Lewis, PhD Candidate supervised by Dr. Quentin J. Pittman at the Hotchkiss Brain Institute in Calgary, and colleagues unveiled a new mouse model of ASD and epilepsy to explore the underlying processes that contribute to the ASD-epilepsy relationship.
To create the animal model, the authors inbred mice that display three behavioral characteristics of ASD -- impaired social interactions, unusual vocalizations and repetitive stereotyped behaviors -- and provoked an immune response in the newborn mice that has been shown to boost brain excitability in other rodents.
The mice were later examined for their susceptibility to seizures, their brain activity on EEG, and key ASD-like behaviors. The study confirmed that a single immune challenge in infancy increases brain excitability, and enhances seizure susceptibility and is associated with aberrant EEG activity in adult mice. The study further found that ASD-like behaviors are maintained in adult mice that received the early immune challenge, but not in unchallenged control mice.
"This innovative mouse model could provide a useful tool to discover the molecular processes responsible for the co-existence of ASD and epilepsy," says Lewis.
About Epilepsy The epilepsies affect 50 million people worldwide, including three million in the United States. The disorder can have a single specific, well‐defined cause, such as a head injury, or manifest as a syndrome with a complex of symptoms. It is the third most common neurological disorder after Alzheimer's disease and stroke.
Read more here