Children with CDKL5 have many complex chronic medical problems, and unfortunately, some of these children will experience true medical emergencies. The following information is not meant to frighten you, but rather keep you informed of what to watch for and consider when your child is not feeling or doing well. You may be the only person involved in your child’s care that is aware of these possibilities, so it is important to share this information with caregivers, ambulance services, nurses and doctors. The majority of children with CDKL5 have not experienced these emergencies, but we do know of many children that have, and tragically several have died as a result of misdiagnosis or delayed diagnosis and treatment.
Status Epilepticus (SE)
- Status epilepticus (SE) is formally defined as a seizure that lasts more than 30 minutes, constituting a neurological emergency. The seizure may be continuous or may be intermittent without recovery of normal baseline consciousness between seizures.
- Unfortunately, Status epilepticus (SE) is a common, life-threatening neurologic disorder that is essentially an acute, prolonged seizure crisis. SE can occur as an exacerbation of a preexisting seizure disorder, the initial manifestation of a seizure disorder, or an insult other than a seizure disorder.
- The International Classification of Epileptic Seizures defines status epilepticus (SE) as a seizure that lasts for a sufficient length of time (30 minutes or longer in most studies) or is repeated frequently enough that the individual does not regain normal levels of consciousness between seizures. This definition is arbitrary, and other studies have suggested that the definition should include patients with seizures of shorter duration (eg, over 10 minutes). For the purpose of treatment decisions, this shorter time definition has merit. One study found that a convulsive seizure lasting more than five minutes has a high risk of lasting 30 minutes or more . Also, treatment delay is associated with delayed treatment response.
- If the child has a history of seizures and there is something different about this one, such as duration of the seizure, part of the body moving, a long period of sleepiness, or any other concerns, the child should be seen in the emergency department.
- Any child with repeated or prolonged seizures, trouble breathing, bluish discoloration of the mouth or skin, or who has been significantly injured should go to the hospital by ambulance.
- All children with CDKL5 who currently have, or have ever had, seizures are at risk for going into status epilepticus. Therefore, a seizure action plan (link to pdf) is a critical medical and decision-making document that you and all those who care for your child should have easy access to at all times. A seizure action plan is individualized to your child and is typically created in partnership with the neurologist/epileptologist or even the general pediatrician. It will likely include the use of “rescue” medications. (If you do not have a seizure action plan, and you are having trouble contacting your pediatric specialists to create one, you should always trust your instincts as a parent to seek help emergently if your child does not seem well. When in doubt, err on the side of caution and consider calling 911 or going to the closest emergency department).
- Please also refer to the separate section below on SUDEP
Non-convulsive Status Epilepticus (NCSE)
- Overall, nonconvulsive status epilepticus is underdiagnosed, meaning that many patients go untreated. Part of the reason is that NCSE is a relatively newly described phenomenon, and by its nature, it isn’t as dramatically obvious as convulsive status epilepticus.
- In order to treat nonconvulsive status epilepticus, you need to first determine that the person is seizing, which can sometimes be difficult. The recognition of a significant cognitive or behavioral change is often challenging, if not impossible, in children, particularly in the very young, in children with pre-existing developmental delay, or in those with intractable recurrent seizures treated with multiple medications—all categories that carry a relatively high risk for NCSE. Interpretation of EEG changes in people with epileptic encephalopathies, in whom baseline EEG is often chaotic, might also be difficult.
- The following criteria for the diagnosis of NCSE in children has been used: “clear and persistent clinical change in behavior (which includes changes in cognition, memory, arousal or motor behavior), confirmed by comparisons with previous observations and/or examination, in the presence of continuous paroxysmal EEG activity, and in the absence of clonic, tonic or tonic–clonic seizures.”
- Electrical SE during Sleep (ESES): ESES is characterized by diffuse 1.5–3.5 Hz spike-and-wave discharges occurring in 85–100% of non-rapid eye movement sleep. ESES is usually associated with various pediatric epilepsy syndromes, such as epileptic encephalopathy with continuous spike-and-wave discharges during sleep.
- Atypical Absence SE and Tonic SE mostly occur in patients with Lennox–Gastaut syndrome (LGS)
- Autonomic status epilepticus: Autonomic SE is characterized by rare prolonged seizures, the most important clinical manifestations of which include nausea, vomiting, pupillary abnormalities, and cardiorespiratory and thermal alterations.
Sudden Unexpected Death in Epilepsy (SUDEP)
SUDEP is a sudden and unexpected death in a person with epilepsy and usually, occurs during or around sleep. The cause is unknown but is believed to be related to seizures and irregularity in breathing, heart rhythm, and brain function. There are several risk factors for SUDEP:
- Long-standing epilepsy
- Early-onset epilepsy and poorly controlled seizures
- A person is at increased risk if they are on multiple seizure medications (indicating difficult to control seizures)
- Abrupt changes in medications
- Developmental delays
- Generalized tonic-clonic seizures
- Nocturnal seizures
SUDEP can occur at any age, however, it appears that the largest risk is in the young adult to adult ages (20 to 40). Not enough data is known about the actual incidence in CDKL5, although children with CDKL5 have multiple risk factors.
Strategies to reduce the risk of SUDEP
- Maximize seizure control (this is often difficult in children with CDKL5)
- Heart rate monitor or pulse ox monitor
- Seizure alarm
- Nighttime supervision
- Training in emergency resuscitation, such as CPR and use of a defibrillator
Talk to your child’s doctor about SUDEP, and inform yourself by checking out these SUDEP resources:
- The Epilepsy Foundation
- Finding a Cure for Epilepsy and Seizures (FACES)
- SUDEP Aware
- SUDEP Action
- The Danny Did Foundation
- Citizens United for Research in Epilepsy CURE
- Long QT segment (diagnosed on an EKG)
- Acute lung infections like bacterial or viral pneumonia, bronchitis
- Sleep apnea (both central and obstructive)
- Severe gastric distension requiring an NG tube to decompress, or venting through a G-tube if one is present
- Volvulus (aka malrotation of the gut.)
- Volvulus is defined as a complete twisting of the stomach or a loop of intestine that causes obstruction and can occur at various sites in the gastrointestinal (GI) tract, including the stomach, small intestine, and large intestine. Symptoms: pain, bilious vomiting, and alternating diarrhea or constipation, or in the case of gastric volvulus: dry retching, distention, and inability to pass a nasogastric tube (NGT)
- Intussusception: Intussusception is a process in which a segment of intestine telescopes into the adjoining intestinal lumen, causing bowel obstruction. This is the most common cause of obstruction seen in children 6 months to 3 yrs of age in a typical population, however, it can occur at any time. Symptoms are: sudden onset severe abdominal pain, babies often pull their knees to their chest and may grunt, the pain comes and goes at first, but then gets worse as time goes on; stools that have blood and mucous mixed (called currant jelly stool); vomiting, lump in abdomen, lethargy, fever, diarrhea, constipation. With early diagnosis, appropriate fluid resuscitation, and therapy, the mortality rate from intussusception in children is less than 1%. If left untreated, however, this condition is uniformly fatal in 2-5 days.
- Infections at site of feeding tube
- Gallbladder disease (both gallstones and biliary dyskinesia). Within the Rett Syndrome population, this is a concern for about 5% of the children, but we do not have any specific information yet about the prevalence in the CDKL5 population.
COMMON MEDICAL PROBLEMS THAT MIGHT NOT GET RECOGNIZED
- Ear infections, sinusitis, strep throat
- Eosinophilic esophagitis, reflux (GERD), gastroparesis (delayed gastric emptying), food allergies, constipation
- UTI, kidney infection, kidney stone
MEDICAL ALERT BRACELETS
Medical alert bracelets are a good idea for anyone with a chronic or life-threatening illness. They come in a variety of materials, sizes and price ranges. There are many companies that sell medical alert bracelets, and a google search of this term will lead you to many quality sites. If your child cannot safely wear the bracelet, some parents have attached the bracelets to the car seat, stroller, wheelchair, book bag, etc.
CPR AND FIRST AID
We encourage you and those taking care of your child to get certification in First Aid and CPR. In general, this is recommended for all parents regardless of caring for a child with special needs. Also consider this for babysitters and other caregivers, school personnel, etc. To find your nearest class contact your local Red Cross, hospital or community center for information.
DO NOT ATTEMPT RESUSCITATION (DNAR)
It is important and worthwhile to consider your feelings and wishes in regards to a Do Not Attempt Resuscitation (DNAR) order or comparable legal document. This matter is best considered over a period of time with all significant information available, a clear and rested mind, along with an understanding of how the decision affects all parties (patient, parent, medical professional, rescue personal, etc.) involved. The Pediatric Intensive Care Unit, the ambulance, or the family room in the Emergency Department is not the ideal place to make this decision; the environment is already mixed with incredible stress, lack of sleep, confusion and urgency. This matter is very personal and there are no correct or easy answers. The best time to consider the possibilities is before the matter becomes urgent and unavoidable, when you have the gift of time to reflect on your family’s wishes. Discuss questions with your Primary Care Physician, such as the general success of CPR, the quality of life you wish for your affected child and the reality of the CDKL5 diagnosis.