Social Work 644 – Issues in Developmental Disabilities
Chris Inglese Lecture
Segment 1
(Slide 1) Epilepsy In Individuals with Intellectual and Developmental Disabilities
My name is Chris Inglese. I’m a pediatric neurologist and an epileptologist. I’m here to talk today about epilepsy in the context of developmental disabilities.
(Slide 2) Seizures
Seizures. Seizures are the outward manifestations of the epilepsies. They can be subjective experiences such as imposed emotions that’s pretty cumbersome and odd thing to say, I guess. What I mean is that a person with epilepsy can have intermittently a feeling of fear or feeling of delight or feeling of panic and that can be their seizure. They’re not convulsing, they’re not stiffening. They’re not frothing at the mouth or falling. I make this point to emphasize the subtleties of some of the manifestations of the epilepsies. A person who has imposed emotional experiences that has epilepsy would be somebody that we call or we say has partial seizures or complex partial seizures.
(Slide 3) Epilepsy
The difference between a seizure and epilepsy. Epilepsy means a predisposition for unprovoked recurrent seizures by an identifiable cause. What I mean is that, if a person, if a child only has seizures when her temperature rapidly rises to 104 when she has roseola or when she has an infectious illness, if her seizures are only related to a fever or illness, that’s not epilepsy because her episodes are provoked and not unprovoked. The keyword here is provoked.
(Slide 4) Epileptic Syndromes
We talk about seizures, epilepsy and epileptic syndromes. A syndrome in general is a collection of signs and symptoms from a common cause which define a recognizable pattern of a disease.
(Slide 5) The Classification of the Epilepsies
The classification of the epilepsies. There are many ways to classify the epilepsies or seizure disorders.
(Slide 6) Classifications cont.
We can classify seizures by their cause or their etiology. We distinguish idiopathic seizures from cryptogenic or symptomatic seizures. The notion of cryptogenic, cryptos meaning hidden; means that we know that there is a cause but we can’t identify it. Let me give you an example. In a person with Down syndrome and epilepsy, we know that there’s got to be something different about their brain because equivocal expression and memory and cognition are subserved by the brain.
We know there’s something different about their brains for them to have those challenges. That difference probably also has a lot to do with their having seizures but we just can’t identify it. Their CAT scans, their MRIs will look normal for the most part.
Idiopathic generally means that a person is developing completely normally. They have normal general examinations and neurologic examinations. Imaging studies and all tests done show no abnormalities, but, yet, they have recurrent unprovoked seizures.
The symptomatic epilepsies by classification mean that we’ve identified a lesion, either an old scar from an injury, a cyst, a tumor, evidence of an old infection, and we link their seizures to the electrical perturbations triggered by that abnormality that we see on the imaging study.
(Slide 7) By Clinical Appearance
We can classify seizures by what we see, by their clinical appearance. We distinguish convulsive versus non-convulsive seizures otherwise known as grand mal versus petit mal; or in the very old terminology, major motor versus minor motor seizures. Major motor and minor motor designations are no longer used. You will probably never hear them, but you will hear people describe their seizures as grand mal or petit mal.
(Slide 8) Diagnostic Evaluation
Diagnosing somebody with suspected epilepsy. What constitutes the diagnostic evaluation? A very careful and detailed history is the most important thing. A great blow by blow detailed description of everything that happened from beginning to end is the most important, the key to making a proper diagnosis of epilepsy. We’re seldom able to have that, but if we dig deep, we can often find somebody who saw a part of the seizure.
Unfortunately, the caretaker who brings the person to us may have just caught the tail end of it. It’s the beginning of the seizure, what the person does at the beginning, which helps us identify the anatomic location of the seizure generator, as mentioned before.
It’s important to do a very careful neurologic examination particularly of the skin and of the cranium, the head. There are all sorts of clues and cues to the cause of a person’s seizures that could be determined from looking at the skin. The so-called neurocutaneous disorders like tuberous sclerosis and neurofibromatosis commonly associated with epilepsy can be diagnosed by measuring birth marks and getting a good sense of the pattern of their distribution.
If a child has a big head or a small head, that could be a very important clue. We’re going to get a CAT scan anyway. It’s important to do a very careful neurologic examination, looking at the eyes and the cranial nerves, looking at the muscle stretch reflexes, the tone of the muscles and movement patterns and how they walk; very, very important and must be done on a very, very detailed manner.
Probably now that we have such great imaging techniques, we can cut corners, and perhaps not do that the way that we had to in the past. In the old days, pre-CAT scan and MRI, a neurologist was able to often times determine where a problem was in the brain simply by examining reflexes, strength, and muscle tone and gait.
Family history is very important. If we are able to obtain a family history of a child’s mother having seizures and outgrowing them at the age of 15, or of many family members having brief staring spells which caused school struggles which the child outgrew, it’s very, very reassuring. It directs us toward placing that child’s seizure disorder in the so-called idiopathic category, as mentioned before.
We draw blood, we do routine blood work. Often times, that’s important to establish baselines to make sure that there are no deviations from the baselines once we prescribe medications because some of the medications, in particular some of the older ones, can impact negatively liver functions and bone marrow functions. In an adolescent or a young adult who is beginning to have seizures, it’s important with even only a minimal index of suspicion to rule out the ingestion of recreational drugs that’s why toxic screens are important in a child who is not developing normally, and in particular, in a child who is going backwards developmentally regressing. It’s important to do screening studies for metabolic muscle and mitochondrial disturbances.
EEG brain wave tests. The application of electrodes precisely on the scalp and recording amplified brain waves is so essential when it comes to managing somebody with epilepsy. You can make a diagnosis and treat somebody properly without an EEG or a good one, but a proper EEG allows you to carefully classify the person’s seizure disorder and make better choices with regard to drugs, and, perhaps, give information to family members and caretakers about prognosis or outcome.
MRI is such an extraordinary advance and it’s getting better. MRIs are definitely needed in any individual with adult onset epilepsy. There are some syndromes in children where they might not be as important. For example, the child that has petit mal seizures or absence seizures; if it’s classic, if the child is hyperventilated and has an event where they stop and stare, if there’s a family history, if their exam is normal, it may not be important or necessary to do an MRI.
Video EEG monitoring. If we think that we’re treating somebody for epilepsy, and we think we’re having them on the right medications and they’re still having seizures, it’s important to record habitual events particularly if the person has not responded to 2 to 3 medications. It’s amazing how often that we find people that we think have epilepsy that don’t, and we bring them into our epilepsy monitoring units. In some epilepsy monitoring units, as many as 50% of people that are monitored who have seizures recorded with split-screen video and EEG wind up not having epilepsy. They have seizures caused by other problems. They could be cardiac problems. They can be psychological problems, for example.
Segment 2
(Slide 9) Why is Classification Important?
I already alluded to some of the reasons why the classification of the epilepsy is important. A big issue is that it’s important to have clinical and basic scientists be comparing apples to apples. If an epileptologist, if a neurologist is going to research childhood absence epilepsy, petit mal seizures, and wants to know what the best treatment is when most children’s seizures remit if they do, and what are the features that allow the doctor to tell families if the child has a good or poor chance of going to remission.
(Slide 10) Classification Facilitates Research
If doctors are going to collect information about that, they have to be collecting information about a discreet syndrome, a particular type of epilepsy, particularly if research is being done in a lot of different centers. So, if you’re trying to find out about the prognosis of absence epilepsy, petit mal seizures, you can’t just throw that into the category of epilepsy in general. You need to be specific, and that’s one way that classification is important. So, classification facilitates research with regard to cause, etiology, treatment, prognosis outcomes.
(Slide 11) International Classification of Epileptic Seizures
The international classification of epileptic seizures distinguishes partial seizures from generalized seizures.
On this slide, there’s a breakdown of the types of partial onset seizures: simple partial seizures, complex partial seizures, simple or complex partial seizures which secondarily generalized.
Simple partial seizures. Remember, in the beginning we said that seizures can be extraordinarily subtle. They can be an experience that has no outward manifestation. An example of a simple partial seizure can be a creepy, crawling, weird feeling of ants crawling up a person’s arm, and it starts in the wrist and works its way into the biceps area and into the shoulder, and maybe into the face on the same side as that arm.
If that’s occurring on the right side of that person’s body, and there’s electrical activation of the part of the brain on the left that subserves sensation, that’s a simple partial sensory seizure. No movement, no stiffness, no shaking. A person can have involuntary clenching of her fist, and then her wrist can flex, her elbow can flex, and her shoulder can elevate, and her face can be drawn down again on the right without any unusual feelings. It could begin and end like that. That could be a seizure, and if so, that would be called a simple partial motor seizure.
There could be combinations of sensory and motor phenomena during a seizure. If a seizure begins with rhythmic twitching of a person’s right thumb and then the wrist rhythmically flexes in and out on the right, and then all of a sudden they stiffen and fall and have tonic and clonic activity, convulsive activity, that’s a simple partial motor seizure that generalizes into a convulsive state.
Autonomic seizures. Some people have seizures that simply involve drooling or a feeling of warmth or feeling of being quite cold. Those are autonomic seizures. They’re quite rare. There are autonomic manifestations of other kinds of seizures, but as a discreet type of seizure, it’s quite rare.
(Slide 12) International Classification of Epileptic Seizures-Generalized
We said the international classification distinguishes partial from generalized seizures. In the generalized group, we have absence seizures, again, the petit mal seizures. They could be typical or atypical. Myoclonic, tonic-clonic, and the combination of atonic and astatic.
Absence, we’ve talked about a lot already. A typical absence seizure or petit mal seizure generally lasts between 4 and 20 seconds. There is the abrupt onset of staring or activity arrest and often times nothing more. There could be a very subtle upward elevation of the eyes and eye fluttering. There could be a very subtle dropping of the chin, but the event will abruptly end and the individual will resume their activity.
If eating, they can pause with their fork in front of mouth. If walking, they can freeze but then continue to walk as if nothing happened. The atypical absence seizure is longer with subtle motor manifestations, the staring as mentioned, the upward eye fluttering, but some lip licking and some drooling and maybe some buckling of the knees, for example.
Myoclonic seizures are lightning like twitches that can be rhythmic but unsustained, just a few rhythmic jerks of one limb or all four limbs symmetrically and synchronously. They’re different from clonic seizures in that clonic seizures are rhythmic and sustained and build on a crescendo fashion. By that, I mean, in a clonic seizure, usually after a period of stiffening, there will be subtle rhythmic movements of limbs that build an amplitude and occur much more quickly. The myoclonic seizure can be a single burst of a rhythmic involuntary movement.
Tonic means stiffening. Some people just have stiffening in extension or stiffening in flexion of their limbs.
Atonic-astatic means drop seizure. Individuals that have astatic seizures fall to the ground, sometimes very, very quickly as if drawn by a magnet. Often times, the individuals that we care for that wear helmets have this kind of seizure, and the helmet, while stigmatizing certainly can be protective of injury to teeth and head.
(Slide 13) International Classification of Epileptic Seizures-Unclassified
We have some kinds of seizures that we struggle to neatly fit into other categories: Febrile seizures, reflex epilepsies and status epilepticus.
Febrile seizures, we don’t consider generally to be a type of epilepsy. It kind of contradicts the definition that we talked about before with regard to provoked versus unprovoked seizures. Febrile seizures occur generally between normally developing children between the ages of 6 months and 6 years. They are self limited and last less than a minute or so. They’re convulsive and symmetric with stiffening and rhythmic shaking. The convulsive event can actually present prior to the infectious illness. The trick here is that seizures themselves can elevate temperature transiently.
We often times make the mistake of treating somebody or approaching them as if they have febrile seizures because a report from the emergency department says that they had a temperature of 101. But if we ask the parents about what the child was like, they’ll say that, “That evening, she was completely normal. She ran around and was active and ate well and wasn’t warm to touch.” Most infectious illnesses with fever will be associated with upper respiratory or lower respiratory or digestive symptoms or signs.
Reflex epilepsies are rare, but just to give you a sense of the manifestations of seizures; some people have seizures just by going out into the sun. Their eyes can literally be drawn to a bright light source. We call that phototropism. That’s a provoked seizure in a way. There’s a rare seizure type in newborns where a certain temperature of bath water can trigger a seizure. I took care of a wonderful woman in Brooklyn during my training who we all thought was quite nuts, and who had seizures triggered by a certain chord in a hymn. She was recorded by Dr. Roger Krakow in Brooklyn with that particular hymn playing and that particular chord in that hymn triggered seizures; audiogenic sound triggered seizures.
Status epilepticus is a medical emergency. The mortality can approach 20% in adults. Status epilepticus means the sustained unremitting state of tonic and clonic seizures during status epilepticus, which, fortunately, is rare. There can be significant respiratory problems and breakdown of proteins and scary changes in the acid base balance in the bloodstream and can cause cardiac problems and death.
Segment 3
(Slide 14) Epidemiology and Statistics-Prevalence
When we talk of prevalence - Prevalence has to do with the sum of old and new cases as a numerator; over in the denominator, the population at risk.
(Slide 15) Epidemiology continued
The prevalence of moderate mental retardation is between 3.7 and 7.6 per 1000. For severe MR, 2.8 to 4.6 per 1000. The prevalence of epilepsy is 4 to 8.8 per 1000. The prevalence of mental retardation in childhood epilepsy is between 31 and 41%.
(Slide 16) Epidemiology continued
Severe mental retardation and epilepsy occur in 30-36% of individuals with that combination, a bit less with moderate mental retardation with regard to the presence of epilepsy between 8 and 18%. In one Swedish study of 6-13 year olds, 98 of 48,873 or 2/1000 had epilepsy in terms of prevalence.
(Slide 17) The risk of Epilepsy increases 30 fold when associated with:
The risk of epilepsy increases 30 fold when associated with traumatic brain injuries, cerebral palsy, or mental retardation. The risk increases significantly by 5 to 15% when an individual has a history of meningitis or encephalitis. When we combine CP and MR, the incidence of epilepsy or the prevalence of epilepsy is 48% according to Hauser, excuse me.