Infantile Spasms: What Pediatricians Should Know

Though seizures in children are always worrisome, pediatricians should be especially watchful for infantile spasms, a type of epilepsy that occurs in young infants typically between ages 3 and 8 months, a CHOC Children’s neurologist says.

These seizures should be considered a medical emergency due to the potentially devastating consequences on the developing brain, Dr. Mary Zupanc says. Many children with infantile spasms go on to develop other forms of epilepsy because a developing brain undergoing an epileptic storm essentially becomes programmed for ongoing seizures and cognitive/motor delays.

To that end, here’s what pediatricians should look for:

  • Infantile spasms often occur in clusters, with each spasm occurring every five to 10 seconds over a period of minutes ranging from three to 10 minutes or longer.
  • Though there is almost always a cluster of spasms in the morning when the child awakens from sleep, infantile spasms can occur at any time during the day or night.

Infantile spasms can be easily missed because they can mimic common symptoms and conditions such as sleep disturbances, gastroesophageal reflux, startle and shuddering attacks.

Diagnosis, treatment

If infantile spasms are suspected, a pediatrician should quickly refer the child to a pediatric neurologist. CHOC neurologists admit these children urgently for long-term video electroencephalogram (EEG) monitoring to confirm the diagnosis.

Infantile spasms are diagnosed on the basis of clinical spasms, in association with a markedly abnormal EEG showing a hypsarrhythmia pattern. A hypsarrhythmia pattern is characterized by very high amplitude electrical activity and multifocal areas of the brain demonstrating epileptic discharges.

High-dose adrenocorticotropic hormone, or ACTH, is CHOC neurologists’ first line of treatment for infantile spasms, per the American Academy of Neurology’s 2004 practice parameter. Vigabatrin (Sabril), the parameter states, is probably effective in the treatment of infantile spasms, especially in children with tuberous sclerosis and infantile spasms.

If started within four to six weeks of seizure onset therapy has better success at stopping spasms, eliminating the hypsarrhythmia pattern and improving developmental outcomes regardless of etiology.

The course of treatment is approximately six weeks. During this time, and for two to three months after the ACTH course, immunizations should not be administered. The effectiveness of ACTH may be as high as 85 percent, though a recent published study placed the efficacy at a slightly lower percentage, regardless of etiology.

Side effects, causes

Side effects of ACTH, a steroid, include high blood pressure, increased appetite and weight gain, increased sugar in the blood, temporary suppression of the immune system, and sometimes gastritis. All side effects are monitored during the time of the ACTH, and they disappear after the course of treatment.

Successful therapy is marked by two achievements: the cessation of the infantile spasms and the elimination of the hypsarrhythmia pattern. But because clinical spasms can be very subtle and the hypsarrhythmia pattern may sometimes only be seen during deep sleep, therapy’s success can only be confirmed through objective long-term video EEG monitoring.

The etiologies for infantile spasms can include:  tuberous sclerosis; cortical dysplasias; stroke; infection including meningitis and encephalitis; hypoxic-ischemic injury; trauma; or genetic conditions such as Down syndrome and metabolic disorders.

 

Dr. Mary Zupanc joins national pediatric neurology board of directors

A CHOC Children’s neurologist has been elected to the board of directors of a national pediatric neurology organization.

Dr. Mary Zupanc, Division Chief of pediatric  neurology at CHOC and director of the pediatric comprehensive epilepsy program, has been named councillor of the west for the Child Neurology Society, a nonprofit professional association of pediatric neurologists in the United States, Canada and worldwide.

CHOC Children's

“I’m thrilled for an opportunity to expand my work of advocacy for children with neurologic conditions at CHOC to a global level,” Dr. Zupanc said.

She begins her term in October 2016 at the organization’s annual meeting in Vancouver, Canada. The Child Neurology Society’s board of directors comprises councillors of the east, Midwest and west; a president; a past-president; and a secretary-treasurer.

“The Child Neurology Society is fortunate to be able to draw on such a deep pool of bright, capable, community-oriented leaders willing to offer their time and talent to help shape the future of child neurology through the Child Neurology Society,” the group said in its announcement.

New recommendations for transitioning neurology patients

The transition for an adolescent or young adult with a neurologic disorder into adult care can be challenging, but steps outlined in a leading medical journal can help pediatric neurologists and pediatricians to ensure a smooth progression.

Dr. Mary Zupanc, division chief of pediatric neurology at CHOC Children’s, is among the 14 authors of the consensus statement published in Neurology, the journal of the American Academy of Neurology.

CHOC Children's

After reviewing studies published in the last decade on transition of neurologic disorders, the authors outlined eight best practices to ensure a smooth transition:

  1. Discuss with the patient and family the expectation of future transition into adult care before age 13.
  1. Assess self-management skills at age 12 and yearly thereafter.
  1. Annual transition planning sessions should also address current medications and potential side effects; signs and symptoms of concern; genetic counseling and reproductive implications of the condition; issues of puberty and sexuality; driving, alcohol, substance use and other risks; and emotional or psychological concerns and wellness.
  1. Discussions with caregivers about the patient’s expected legal competency (e.g. whether a need for legal guardianship and powers of attorney exists) should begin by age 14. If unclear, legal competency assessment should occur annually.
  1. For pediatricians, develop a comprehensive transition plan that considers health, finances and legal care by age 14. Collaborate with the patient, caregivers, other health care providers, school personnel, vocational professionals, community services providers and legal services.
  1. The child’s neurology team should develop the neurologic component of the transition plan and update it annually.
  1. Collaborate with the patient and caregivers to identify adult providers before the anticipated transfer time. A medical transfer packet prepared for the adult provider and provided to the youth should include the transition plan and medical summary with pertinent history, diagnostic evaluations, previous drug trials, current medications and protocol for emergency care.
  1. The patient’s neurology team should communicate directly with the new adult provider to ensure a smooth transition, which is finalized after the first appointment. Neurologists should remain available both to the youth and the adult provider for continuity and support.

The statement has been endorsed by the Child Neurology Society, American Academy of Neurology and the American Academy of Pediatrics.

Read the paper in its entirety in Neurology.

 

2015 CHOC Children’s – UC Irvine Child Health Research Awards

We are pleased to announce that we just completed another round of the CHOC Children’s – UC Irvine Child Health Research Awards, our annual call for proposals that enhance research collaborations between CHOC and UC Irvine and further the Mission, Vision and strategic aims of the CHOC-UCI Child Health Research Strategic Plan. Intended to support research and collaboration in targeted areas of research excellence that align research strengths for focused growth and maximal translational impact, our call this year specifically solicited applications for two funding mechanisms, Pilot Collaborative Research Awards and Clinician Investigator Awards.

Child Health Research Award - UC Irvine Infographic

Pilot Collaborative Research Awards are intended to provide funds for collaborative projects in need of initial start-up funding to enable procurement of other independent support. These awards are designed to promote novel, translational research efforts that coalesce talented clinicians and researchers from CHOC and UC Irvine. Projects bring investigators from multiple disciplines from CHOC and UC Irvine together to identify targets for improved diagnosis, prevention, or treatment of a pediatric health problem relevant to the goals of the CHOC-UCI Child Health Research Strategic Plan.

Clinician Investigator Awards are intended to provide funds for clinician-investigator initiated projects in need of funding to advance study into a clinically relevant and important topic that has a high likelihood of impacting clinical practice and the positive experience of pediatric/ adolescent patients and their families. Priorities are given to proposals that are closely aligned with the research themes identified in the CHOC – UCI Child Health Research Strategic Plan. Projects identify targets for improved diagnosis, prevention, or treatment of a pediatric health problem relevant to the goals of the CHOC-UCI Child Health Research Strategic Plan. Collaborations between CHOC and UCI faculty are strongly encouraged, but not required.

This year we received 18 proposals, an increase of 13% over last year, covering a wide range of topics and specialties. After external academic peer reviews and committee discussions, we decided to fund 6 projects, 3 Pilot Collaborative Research Awards and 3 Clinician Investigator Awards.

Congratulations to the well-deserving recipients of the 2015 awards! They are listed below, in order of award type and Principle Investigator’s last name.

 

Pilot Collaborative Research Awards.

Principal Investigator: Dr. Gurpreet Ahuja

Collaborators: Drs. Nguyen PhamKevin Huoh, Naveen Bhandarkar, Carolyn Coughlan, Joon You

Project Title: NIR Imaging of Pediatric Sinuses

 

Principal Investigator: Dr. Tami John

Collaborators: Drs. Lilibeth Torno, Daniela Bota, Grace Mucci, Mary Zupanc, Jack Lin

Project Title: Cognitive Training to Promote Neuroplasticity and Neural Re-circuitry in Chemotherapy

Associated Cognitive Impairment

 

Principal Investigator: Dr. Calvin Li

Collaborators: Drs. John Weiss, Hong Yin, William Loudon

Project Title: A Tunable Engineered Tissue Graft Model for Repair of Traumatic Brain Injury

 

Clinician Investigator Awards

Principal Investigator: Dr. Antonio Arrieta

Collaborators: Drs. Katrine Whiteson, David Michalik

Project Title: Addressing the Fear Factor in Neonatal Serious Bacterial Infections: Distinguishing E Coli From Bacteremia, Urinary Tract Infection, and Bacteremic Urinary Tract Infection in Infants <28 Days vs. >28 Days to 90 Days Old by Pairing E. Coli Genome Analysis with Clinical Data

 

Principal Investigator: Dr. Joanne Starr

Collaborators: Drs. Richard Gates, Sharief Taraman, Mary Zupanc, Paul Yost, Michele Domico, Juliette Hunt, Tammy Yoon, Kimberley Lakes

Project Title: Seizures and Neurodevelopmental Outcomes in Mild Hypothermic Cardiopulmonary Bypass

 

Principal Investigators: Dr. Sharief Taraman and Ruth McCarty

Collaborators: Drs. William Loudon, Frank Hsu

Project Title: The Use of Traditional Chinese Medicine (TCM) as a Complementary Treatment of Pediatric and Young Adults with Post-Concussive Syndrome

Complicated Case: Hemispherectomy Follows Frontal Lobe Hemorrhage

Heidi Sexton knew her young epileptic daughter, Kara, needed more help. Anti-seizure medications didn’t help, hospital visits were frequent, and seizures and tantrums continued.

“It was time,” Heidi recalled. “I went in to the next doctor’s appointment with my questions: What else can we try? This isn’t working.”

Dr. Mary Zupanc, director of CHOC Children’s comprehensive epilepsy program, offered her recommendation: Kara needs brain surgery.

A little girl’s long road

Though no doubt a staggering consideration, brain surgery would be the next landmark on a long medical history that belied Kara’s short three years of life.

At just 13 months old, she underwent emergency brain surgery after her frontal lobe hemorrhaged, caused by a previously undiscovered vascular malformation. The hemorrhage in Kara’s brain led to right-side hemiplegia, leaving her no use of her right hand and limited the use her right leg.

Kara underwent physical therapy and began walking at age 2. Life was relatively normal for the Sexton family until just after Kara’s third birthday, when she began acting strangely.

Kara’s body would stiffen, she’d fall down and stare off into space, Heidi recalled. It wasn’t until a visit to the Julia and George Argyros Emergency Department at CHOC Children’s Hospital that the Sextons would learn Kara was having seizures.

At the CHOC Children’s Neuroscience Institute, Kara underwent an electroencephalogram, or EEG, a test that monitors for electrical activity in the brain. Next, she spent six days undergoing long-term video EEG monitoring. From there, Dr. Zupanc, also CHOC’s neurology division chair, made an official diagnosis of epilepsy and prescribed an anti-epileptic medication.

Kara1-683x1024

Exploring other options

Nonetheless, Kara’s seizures continued. Kara’s three older siblings were acutely aware of their sister’s disorder, daily counting Kara’s seizures and agonizing over each hospital visit. The family began to placate Kara in hopes of staving off outbursts and tantrums, Heidi said.

“Kara had between two and four seizures a day,” she said. “It really messed with her behaviorally. She’s a lovely kid, but she suffered serious temper tantrums. It was physically and emotionally exhausting.”

A second six-day monitoring session led Dr. Zupanc to change Kara’s medication and, as a precaution, begin evaluating her as a candidate for epilepsy brain surgery.

Further tests and scans revealed that the left hemisphere of Kara’s brain was significantly injured and atrophied – likely related to her earlier hemorrhage. In addition, Kara’s new anti-epileptic medication wasn’t working.

Dr. Zupanc concluded that the next step was a hemispherectomy, a surgical procedure in which one side of the brain is removed or disconnected.

“On scans, Kara’s hemisphere was completely white,” Heidi said. “The only thing her left hemisphere was doing was causing seizures. There was no question.”

A change of course

Nearly 11 months after the seizures first surfaced, Kara underwent surgery at CHOC to remove a portion of her brain’s left side, and disconnect the remaining portion from the right hemisphere. Performed by neurosurgeon Dr. Joffre Olaya, the procedure lasted six hours.

After 16 days recovering in the hospital’s pediatric intensive care unit, Kara went home just after her fourth birthday.

Much to her parents’ and siblings’ relief, Kara hasn’t had a seizure since her surgery eight months ago. Kara still relies on an anti-epileptic medication, but she may be able to stop taking it completely or use a lower dose of medication soon if her progress continues.

Though considering a second brain surgery was daunting for the Sextons, Heidi and her husband knew the procedure was the right choice to help their daughter.

“I looked at it in a sense of quality of life for Kara,” Heidi said. “Hopefully now she’ll be able to drive one day. Continued seizures would have impaired her cognitively forever, and I didn’t want that.”

Though she still requires extensive care, Kara is doing well physically and emotionally and is looking forward to preschool.

Kara isn’t fully aware of her journey in the last year, but she understands the meaning of the scar on her head just above her ear.

“She knows now that she doesn’t have seizures and Dr. Olaya and Dr. Zupanc fixed her,” Heidi said.