Management of General Medical Conditions


Vocal behaviors

Motor behaviorsa

Changes in overall state

Frequent clearing of throat, swallowing, tics, etc

Facial grimacing

Sleep disturbances: difficulty getting to sleep, difficulty staying asleep

Screaming

Gritting teeth

Increased irritability (exaggerated responses to stimulation)

Sobbing “for no reason at all”

Wincing

Noncompliance with demands that typically elicit an appropriate response (oppositional behavior)

Sighing, whining

Constant eating/drinking/swallowing (“grazing” behavior)
 
Moaning, groaning

Mouthing behaviors: chewing on clothes (shirt sleeve cuff, neck of shirt, etc), pica
 
Delayed echolalia that includes reference to pain or stomach (eg, child says, “does your tummy hurt?” echoing what mother may have said to child in the past)

Application of pressure to abdomen: leaning abdomen against or over furniture or kitchen sink, pressing hands into abdomen, rubbing abdomen
 
Direct verbalizations (eg, child says “tummy hurts” or says “ouch,” “ow,” “hurts,” or “bad” while pointing to abdomen)

Tapping behavior: finger tapping on throat
 
Any unusual posturing, which may appear as individual postures or in various combinations: jaw thrust, neck torsion, arching of back, odd arm positioning, rotational distortions of torso/trunk, sensitivity to being touched in abdominal area/flinching

Agitation: pacing, jumping up and down

Unexplained increase in repetitive behaviors

Self-injurious behaviors: biting, hits/slaps face, head-banging, unexplained increase in self-injury

Aggression: onset of, or increase in, aggressive behavior


A functional behavioral assessment would be useful in interpreting these behaviors

a Motor behaviors also may be markers of pain or discomfort arising in other parts of the body



Lastly, the history should always include questions that alert the clinician for more serious pathologic disorders. These “alarm” signs and symptoms include weight loss, gastrointestinal bleeding, prolonged or persistent vomiting, prolonged diarrhea, localized abdominal pain, and unexplained fever. The presence of these symptoms should prompt further evaluation for organic causes (Buie et al. 2010b).

The physical exam may also provide critical information regarding the cause of the possible gastrointestinal disorder. For example, a child with constipation might have palpable stool within the left lower quadrant of the abdomen, and a rectal exam might reveal large amounts of stool within the rectal vault. An abdominal and rectal exam can be challenging to perform on children with ASD because of the anxiety and tactile defensiveness that some children display in the clinical setting. Because children with ASD rely on predictability it may help to explain the components of the exam in a developmentally appropriate way to the child before starting. Parents can also be encouraged to bring along reinforcers that can be given upon completion of the exam. During the exam, using techniques such as “countdowns” can help the child clearly understand when portions of the exam will begin and end. A careful neurologic examination that evaluates muscle tone, strength, and reflexes can provide important clues for the organic etiologies of chronic constipation, such as tethered spinal cord. The physical exam should always include review of growth and nutritional status by calculating the body mass index or weight for length. Being underweight is an important finding and may trigger a referral to a nutritionist and pediatric gastroenterologist to assess the adequacy of caloric intake and consideration of further workup for inflammatory, malabsorptive, or other organic disorders.

Further testing is based on the findings from the history and physical exam but may include celiac disease screening (total IgA and tissue transglutaminase), food allergy testing (IgE-based serum tests or referral to an allergist for skin prick testing), stool samples for bacteria and parasites, a lactose breath test, quantitative fecal fat, stool alpha-1-antitrypsin and guaiac testing for the presence of blood in the stool. Some of these tests may be difficult to obtain from children with ASD. Rather than forgoing a needed test, an upper or lower endoscopic exam under anesthesia may be performed by a gastroenterologist who can obtain tissue samples to assess for many of the disorders listed above.



Management of Common Gastrointestinal Problems in Children with ASD


Treatment of gastrointestinal disorders in children with ASD should be based, if possible, on an identified cause. However, when the history and physical exam are highly suggestive of a particular diagnosis and there are no alarming signs, an empiric trial of a medication or dietary modification for a particular gastrointestinal disorder is warranted, rather than first performing confirmatory tests that may be more invasive. For example, a child that has symptoms suggestive of GERD could receive a 4-week trial of a proton-pump inhibitor without undergoing endoscopy or a pH probe. In the case of chronic abdominal pain that appears to be triggered by lactose containing foods, a 2-week trial of a lactose free diet is reasonable. If the child does not respond to the trial, further invasive or noninvasive testing should be undertaken under the guidance of a pediatric gastroenterologist (Buie et al. 2010a) (Table 25.2).




Table 25.2
Diagnostic evaluation of gastrointestinal symptoms and disorders in individuals with ASD (Adapted from Buie 2010a)

















































Symptom

Possible associated gastrointestinal disorder

Definition

Diagnostic evaluations to be considered

Sleep disturbance

GERD

Parental/provider report

(1) Diagnostic trial of proton-pump inhibitor;

(2) pH probe, EGD

Self-injurious behavior, tantrums, aggression, oppositional, behavior

Constipation, GERD, gastritis, intestinal inflammation

Parental/provider report

(1) Abdominal radiograph;

(2) Diagnostic trial of proton-pump inhibitor or PEG 3350;

(3) pH probe, EGD, colonoscopy

Chronic diarrhea

Malabsorption, maldigestion

loose stools daily for > 2 wk

(1) Stool analysis for occult blood, enteric pathogens, ova/parasites (Eiardia or Cryptosporidium), Clostridium difficile,

(2) Consider PEG 3350 if overflow diarrhea is a possibility;

(3) Lactose breath test (or measure lactase-specific activity), EGD, colonoscopy

Straining to pass stool, hard or infrequent stool

Constipation

< 2 hard stools per week (Bristol stool score)

(1) Abdominal radiograph to look for fecal impaction;

(2) Diagnostic trial of PEG 3350

Perceived abdominal discomfort: pressing abdomen, holding abdomen and crying, problem behaviors related to meals

Constipation, GERD, intestinal inflammation. malabsorption, maldigestion
 
(1) Diagnostic trial of proton-pump inhibitor or PEG 3350;

(2) Abdominal radiograph;

(3) Lactose breath test (or measure lactase-specific activity);

(4) pH probe, EGD, colonoscopy

Flatulence and/or bloating

Constipation, lactose intolerance, enteric infection with Eiardia or Cryptosporidium
 
(1) Abdominal radiograph;

(2) Diagnostic trial of PEG 3350 or lactose restriction;

(3) Lactose breath test or EGD (measure lactase-specific activity)

Any or all of the above

FAP, IBS

FAP: abdominal pain without demonstrable evidence of anatomic, metabolic, infectious, inflammatory, neoplastic, or other pathologic condition

IBS: FAP associated with alteration in bowel movements

(1) Behavioral soothing;

(2) Diet enhancements with fruits, fiber, sufficient fluids;

(3) Increase in routines for sleep and toilet time


EGD esophagogastroduodenoscopy, PEG polyethylene glycol


Constipation and Encopresis

The treatment of constipation and encopresis in children with ASD deserves further explanation and demonstrates the benefit of an interdisciplinary team approach. Children with ASD have a higher risk of functional constipation for several reasons. First, the sensory processing difficulties experienced by many children with ASD (Kern et al. 2006), can cause increased sensitivity to the discomfort of stool passage and lead to stool withholding behaviors. Second, children with ASD frequently take medications for associated disorders that have anticholinergic properties that slow intestinal motility (Rosenberg et al. 2010). Third, anxiety is a common psychiatric comorbidity that may lead children to develop phobias about using toilets away from the predictable environment of their home, further contributing to voluntary stool withholding (Leyfer et al. 2006). Lastly, the selective diets of some children with ASD may lack adequate fiber, leading to hard stools (Herndon et al. 2009). Constipation without adequate treatment may lead to fecal impaction and encopresis or repeated involuntary fecal soiling.

If there is fecal impaction and encopresis the first step in treatment is disimpaction (Hepatology and Nutrition 2006). This can be achieved with oral medications, such as polyethylene glycol, or enemas over 1–3 days. Many children, including those with ASD, may not tolerate enemas or drinking the large volumes of medication required and will benefit from nasogastric administration of medications or manual disimpaction in an inpatient setting. This requires an experienced inpatient team with expertise in the needs of children with ASD.

After disimpaction, the goal of maintenance treatment is painless passage of 1–2 soft stools daily. The maintenance phase of treatment involves daily use of medications (osmotic agents, lubricants, and stimulants; Table 25.3), dietary modifications, and behavioral supports (Hepatology and Nutrition 2006). Maintenance medications should be continued daily for 6 months to avoid relapses. Children with ASD who are sensitive to certain textures may refuse some medications (Williams et al. 2000), so it is important to find a medication in the form of a liquid suspension, chewable tablet, or traditional tablets that the child will accept. The child should remain on a high fiber diet (5 g + the age of the child per day; Tabbers et al. 2011). In children with ASD who refuse fiber-containing foods, a variety of over-the-counter fiber supplements are available. Adequate water consumption should be encouraged and, because caffeinated beverages decrease the water content in stools, they should be discouraged. In addition to many other benefits, regular exercise may be beneficial in treating and preventing constipation (de Oliveira and Burini 2009). Unfortunately, children with ASD and other disabilities have fewer opportunities to participate in regular recreational activities. Clinicians should encourage the family with an “exercise prescription” and assist families in locating appropriate adaptive recreational programs in the community (Murphy and Carbone 2008).




Table 25.3
Medications for use in treatment of constipation in children. (Adapted with permission from Constipation Guidelines Committee of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr. 2006:43 (3):e1–e13.)




























































Medication

Dosage

Comments

Lactulose (70 % solution)

1–3 mL/kg per d in divided doses

Well tolerated

Sorbitol (70 % solution)

1–3 mL/kg per d in divided doses

Similar to lactulose but less expensive

Magnesium hydroxide (400 mg/5 mL, 800 mg/5 mL, or tablets)

3 mL/kg per d

Monitor for Mg toxicity, hypophosphatemia, hypocalcemia

Magnesium citrate (liquid, 16.17 % Mg)

< 6 y of age: 1–3 mL/kg per d; 6-12 y of age: 100–150 mL/d in single or divided doses; > 12 y of age: 150–300 mL/d in single or divided doses

Monitor for Mg toxicity, hypophosphatemia, hypocalcemia

PEG 3350

1–1.5 g/kg per d for 3 d; maintenance: 1 g/kg per d(usual dose 17 g/d)

Palatable (can be dissolved in most fluids); not approved for use in infants

Phosphate enemas

< 2 y of age: to be avoided; ≥ 2 y of age: 6 mL/kg up to 135 mL

May be psychologically traumatic; may damage rectal wall; may cause abdominal distention or vomiting; tetany with hyperphosphatemia/ hypocalcemia; avoid if renal disease is present

PEG electrolyte solution

For disimpaction: 25 mL/kg per h (maximum: 1000 mL/h) via nasogastric tube until clear; maintenance: 10 mL/kg per d

Taste is an issue; may cause nausea, bloating, cramps, vomiting

Mineral oil

< 1 y of age: not recommended; > 1 y of age: maintenance 1–3 mL/kg per d

Safe alternatives are available; should be used only if other agents fail; lipoid pneumonia if aspirated; leakage of stool; concern about impairing absorption of fat-soluble vitamins has not been substantiated clinically

Senna (syrup, 8.8 mg sennosides per 5 mL)

2–6 y of age: 2.5 mL/d; > 12 y of age: 5–15 mL/d

May cause permanent nerve or muscle damage, hepatitis, melanosis coli

Bisacodyl suppository (10 mg)
 
May irritate rectal mucosa

Bisacodyl tablets (5 mg)
 
Abdominal pain, diarrhea, hypokalemia

Glycerin suppositories
 
Minimal adverse effects except for stress caused from insertion


Mg magnesium

Lastly, children with ASD may benefit from behavioral supports to maintain regularity with bowel movements. Caregivers can utilize a reward system to encourage children to sit on the toilet after meals. A calendar with stickers for sitting and for stool successfully passed into the toilet serves not only as a means of reward for the child but also helps caregivers and clinicians to accurately track stool frequency (Hepatology and Nutrition 2006). It is important for the child to feel secure while sitting on the toilet and that their feet can touch the floor or a stool to facilitate making a valsalva movement. It is also important to be cognizant of sensory issues such as the feel of the toilet seat or the loudness of flushing the toilet. Consultation with a behavioral therapist may help successfully implement such a system in cases when the child is unmotivated to comply. Coordinating efforts with the child’s educational team can be helpful in the implementation of a consistent strategy throughout the child’s day. Successful treatment of constipation in children with ASD requires a motivated family and an interdisciplinary approach. Regular follow-up visits help clarify the treatment plan and help families succeed. This clinician has utilized a “constipation action plan” as a way to create a family-centered treatment plan that can be updated and revised at subsequent visits.

If conservative therapies for functional constipation are not successful further testing for organic causes of constipation and referral to a pediatric gastroenterologist are indicated according to guidelines published by the North American Society for Pediatric Gastroenterology (Hepatology and Nutrition 2006).



Food Selectivity in Children with ASD


Caregivers of children with ASD often describe their children as “picky eaters” (Bandini et al. 2010; Lockner et al. 2008; Nadon et al. 2011; Provost et al. 2010) . Food selectivity encompasses a number of different behaviors such as picky eating, frequent food refusals, limited repertoires of foods, excessive intake of a few foods, and selective intake of certain food categories. This condition should be considered when a caregiver reports intakes of fewer than 20 different foods (Cermak et al. 2010). Despite methodologic limitations of studies, food selectivity is believed to be more common in children with ASD than in typically developing peers (Cermak et al. 2010). Parents report that factors such as food texture, appearance, taste, smell, and temperature are the principle influences of food acceptance in children with ASD (Bennetto et al. 2007; Provost et al. 2010; Williams et al. 2000).


The Etiology of Food Selectivity in Children with ASD


While an insistence on the same type of food or having rigid adherence to a narrow range of feeding behaviors could be consistent with the core features of ASD, food selectivity in some children with ASD may be causally related to a common associated condition known as sensory processing disorder. Although not considered a core symptom, this condition, defined as unusual or unexpected responses to environmental and sensory stimuli that adversely affect life activities, has been strongly associated with ASD (Kern et al. 2006). Children with tactile defensiveness, who have a negative response to being touched or hugged may be particularly prone to food sensitivity (Smith et al. 2005). Clinicians should also be alert to the possibility of one of the gastrointestinal disorders discussed earlier, such as GERD, constipation or food allergy as an underlying cause of food selectivity. Any of these gastrointestinal conditions may make the experience of eating less pleasurable and result in a child becoming more food selective .


Food Selectivity and Nutritional Deficiencies


Despite the issue of food selectivity, it is unclear if children with ASD as a group have higher rates of nutritional deficiencies compared with typically developing peers. Some studies have found significantly lower intakes of certain macro and micronutrients (Herndon et al. 2009; Schreck et al. 2004b), while others have not (Levy et al. 2007). Significant illnesses related to nutritional deficiencies, such as scurvy from vitamin C deficiency and vision loss related to hypovitaminosis A and vitamin B12 deficiency, have been reported among children with ASD and food selectivity (Bruins et al. 2011; Duggan et al. 2007; Pineles et al. 2010; Tang et al. 2011). Food selectivity in children with ASD may also place them at risk for becoming underweight and overweight (Curtin et al. 2010; Hebebrand et al. 1997). Thus, although the risks of nutritional problems among children with ASD as a group are uncertain, it is clear that those with food selectivity are at increased risk.


Management of Food Selectivity in Children with ASD


Children with food selectivity, especially those with abnormalities in growth parameters (underweight, overweight, or significant changes in growth rate), those with symptoms of dysphagia (difficulty in swallowing) or a history of aspiration pneumonia, and those with symptoms of food allergy should be evaluated by an interdisciplinary team. A registered dietician can assess nutrient intake, the risk for nutritional deficiencies and make recommendations about nutritional support with regards to caloric intake and vitamin and mineral supplementation. An allergist may recommend appropriate allergy testing (skin testing, measurement of allergen-specific IgE levels) in those children in which food allergy is suspected. A feeding therapist (generally within the discipline of occupational or speech therapy) can help to identify the underlying cause of food selectivity with specialized studies of swallowing function and evaluation of sensory processing difficulties. Based on the underlying cause a treatment plan can be developed. In the case of sensory processing difficulties, the feeding therapist may work with caregivers to identify alternative foods or food preparation strategies that slowly increase the tolerability of a wider variety of foods that meet the child’s nutritional needs. Gradual desensitization can also be helpful. Behavioral therapists can use behavioral modification techniques to motivate the child to accept new foods, and an occupational therapist may be able to modify the feeding environment to reduce excess stimuli that may be increasing mealtime stress (Cermak et al. 2010).


The Gluten-Free, Casein-Free (GFCF) Diet in Children with ASD


The GFCF diet is a commonly used complementary and alternative treatment (CAM) in children with ASD (Wong and Smith 2006) and has been promoted to address both the core symptoms of ASD and associated gastrointestinal symptoms . Gluten is a protein found in wheat, barley, and rye; casein is a protein found in dairy products. The rationale for this restrictive diet is based on a hypothesis of abnormal intestinal permeability and incomplete breakdown of the proteins in gluten and casein. This incomplete breakdown is said to lead to the formation of opioid like peptides that then act on the nervous system to contribute to the symptoms of ASD. This hypothesis has not been proven (White 2003). Interest in the GFCF diet began in the 1960s as a treatment for schizophrenia when researchers noted a decrease in hospital admissions for schizophrenia during World War II when there was a concurrent decrease in wheat consumption (Dohan 1966). While one of the first randomized trials of the GFCF diet in children with ASD was promising (Knivsberg et al. 2002), a subsequent more rigorous randomized, double-blind, crossover designed study showed no significant improvements in the core symptoms of ASD (Elder et al. 2006).

Providers who care for children with ASD should expect questions from families about the GFCF diet. Presently there is a need for larger-scale studies to assess if children with ASD benefit from this diet (Millward et al. 2008). Providers should review the challenges in implementation with interested families. These include increased food related expenses, the extra time, effort, and commitment required for food preparation, the potential for nutritional deficiencies (e.g., vitamin D and calcium), and worsening food refusal in an already selective eater (Elder 2008). In order to ensure the safest implementation of the GFCF diet, providers may wish to refer interested families to a registered dietician .

Because the GFCF diet is considered to be generally safe, experts in CAM have encouraged providers to support families who choose implementation and to encourage a means to objectively evaluate outcomes (Akins et al. 2010). Providers may wish to encourage an “N of 1 trial” in which the family chooses the target symptoms or outcomes they wish to evaluate in their child before and after implementing the GFCF diet. With the use of a tool such as a change monitoring log, the family or other members of the treatment team can systematically record the frequency and severity of target symptoms and review this periodically with the provider at follow-up visits (Golnik et al. 2011) .


Seizures and Epilepsy in Children with ASD



Introduction


ASD and seizures/epilepsy are complex, heterogeneous conditions; therefore, the management of children with both conditions may be challenging . Both can result from conditions such as tuberous sclerosis, or they can by themselves be diagnosed (e.g., idiopathic autism and absence epilepsy). Much of the research done in the past attempted to include patient groups that seemed at the time to be homogeneous but are now recognized as including patients with autism and genetic syndromes associated with epilepsy (e.g., Angelman and Rett syndromes), making conclusions difficult .


Definition of Seizures and Epilepsy


Seizures are defined as events resulting from paroxysmal, excessive electrical discharges in the brain that cause a variety of clinical manifestations. Epilepsy is a term used when an individual has recurrent seizures .


Electroencephalographic Abnormalities Without Clinical Seizures in Children with ASD


Individuals with ASD have, compared with the general population, an increased incidence of electroencephalographic abnormalities without clinical manifestations of seizures. These include paroxysmal bursts of spike, spike/wave, polyspike, polyspike/wave, and localized spikes in central, temporal, and parietal regions, similar to those seen in the benign focal epilepsies of childhood. The significance of electroencephalographic abnormalities in individuals without clinical seizures are not well understood but may be viewed as evidence of central nervous system dysfunction (Spence and Schneider 2009).


Epidemiology of Epilepsy in Children with ASD


Individuals with ASD have a higher incidence of seizures/epilepsy than the general population. Although rates vary widely depending on inclusion criteria for patients, epilepsy is found in 6–46 % of individuals with ASD compared with a lifetime risk for epilepsy in the general population of 3 % (Spence and Schneider 2009) . Individuals with ASD who also have cerebral palsy or intellectual disability are on the high end of this range, while individuals with ASD without these conditions have a much lower prevalence of epilepsy (2–8 %) (Tuchman and Rapin 2002). Individuals with ASD also have a higher percentage of electroencephalographic abnormalities without clinical seizures , although the significance of this is unclear (Tuchman and Rapin 2002) .

There are two age peaks for epilepsy in children with ASD, early childhood and adolescence. As many individuals with ASD and seizures have long-term, possibly life-long epilepsy, prevalence increases as the age of the population being studied increases (Tuchman and Rapin 2002). Many seizure types have been described in individuals with ASD (Spence and Schneider 2009) although some authors feel that complex partial seizures are the most common (Hara 2007). The regression in language and social interaction observed in approximately one-third of children with ASD (Levisohn 2007) appears to occur at the same frequency whether or not that child has epilepsy, but a regression in verbal abilities may signal a more severe clinical course in terms of cognitive and behavioral outcomes (Shinnar et al. 2001b).

Not surprisingly, individuals with ASD and epilepsy often have a diminished quality of life compared with individuals with only one of these conditions (Shinnar et al. 2001). Individuals with ASD and epilepsy score lower on social maturity scales and are more likely to be prescribed psychotropic medications than individuals without seizures (Hara 2007). Individuals with both conditions are also more likely to have intellectual disability than individuals with ASD alone (Tuchman and Cuccaro 2011). Lastly, it is unclear whether individuals with ASD and seizures begin with a more severe underlying brain disorder than those with ASD alone or whether the presence of epilepsy leads to a further decline in function .


Evaluation of Seizures in Children with ASD


Is it a seizure? The first question in any child with a seizure-like event is whether the noted event is a true epileptic seizure . This distinction is especially important in a child with ASD who may have stereotypies such as hand-flapping, other repetitive motor behaviors, or behavioral events such as rage or aggression. These and symptoms such as daydreaming, syncope, and night terrors may be misinterpreted as seizures. Some studies suggest that non-epileptic events are misdiagnosed as seizures 30 % of the time; such misdiagnoses may expose individuals to unnecessary procedures or medications (Perrig and Jallon 2008) .

To address the question of whether or not the event of concern is a seizure, a comprehensive history of the event(s) that might have been a seizure(s) needs to be elucidated. Is this event(s) predictable and stereotypical? Does it occur with anxiety or anger? If so, the event(s) are unlikely to be caused by seizure activity. It may be difficult to be certain at the initial evaluation whether the event was a seizure or not, it is often wise to have the parents monitor for subsequent similar events, videotape them, and keep an event journal. It may sometimes be useful to perform a long-term electroencephalogram (EEG) with video monitoring in order to catch the event at the same time as the EEG tracing. An event not accompanied by epileptiform EEG abnormalities is not likely to respond to antiepileptic medications. If the events being questioned are staring spells, the parents should be asked to touch and speak to the child during the episode; if the staring stops with this attention, a seizure is unlikely. Parents should also be asked to look for interruptions in activity (e.g., drinking a glass of water, walking across a room). If such interruptions are noted, the staring spells are more likely to be seizures. Environmental triggers should be noted carefully. Many children with seizures are more likely to have them if they are tired or ill, and on awakening from sleep. If there is uncertainty, it is best to acknowledge that and to continue to work with the parents until there is some clear understanding of whether an event is epileptic or not (Beach and Reading 2005). In a situation where it is not clear whether the child is having seizures or not, it is unlikely that getting an EEG will resolve the problem. As noted above, large proportion of children with ASD have abnormal EEGs (Spence and Schneider 2009). Conversely, a child with definite seizures may have a normal EEG. The child should instead be followed closely clinically. Sometimes the question of seizures comes from the school or therapists. If so, they need to be engaged in tracking events as well. Follow-up visits to discuss the journal of events or to view videos of the events should be scheduled before the family leaves the office to ensure that the possibility of seizures continues to be addressed. If the issue remains uncertain, a referral to a pediatric neurologist may be helpful in reaching a conclusion concerning the nature of the event (Deacon et al. 2003) .

What kind of seizure is it? Once the event has been determined to be a seizure, understanding the type of seizure will guide evaluation and choice of medication. Caregivers should be asked to identify, if they can, where in the body an event that may be a seizure started; for instance, eyes beating to the left before jerking begins. A brief description of seizure types follows; a more extensive review of seizure classification has been previously published (Tuxhorn and Kotagal 2008).

Focal onset seizures (also called localized or partial seizures) start in one part of the body. Examples of focal onset seizures include: a seizure that starts with hand jerking, tingling on one side of the body, or a sense of fear. Focal onset seizures occur in children of all ages and may be difficult to diagnose and treat. Because these seizures may be associated with focal brain pathology (e.g., stroke or tumor), neuroimaging is almost always indicated. Seizures with focal onset before generalization are classified as focal seizures with secondary generalization, and for purposes of evaluation and treatment should be treated as focal seizures.

Generalized seizures begin with widespread manifestations, caused by widespread electrical dysfunction of the entire cortex. Some types of generalized seizures include :





  • Absence seizures appear as a sudden impairment in consciousness often associated with eye blinking, staring, and other minor facial movements. There is abrupt interruption of preceding activities, but the child does not fall down or have a convulsion. They may last from a few seconds to a minute and typically occur multiple times per day with abrupt onset/termination and minimal, if any, postictal manifestations .


  • Atypical absence seizures are most common in children with neurodevelopmental disabilities. Atypical absence seizures have gradual onset and termination, cyclic frequency, and are more prolonged or pronounced than typical absence seizures. The EEG pattern of these seizures is similar to that of absence epilepsy but has a slower frequency and is not as distinctive .


  • Myoclonic seizures are lightning-quick limb or body jerks, either unilateral or bilateral, usually without impairment of consciousness .


  • Tonic-clonic seizures (formerly known as grand mal seizures) generally involve tonic posturing (sustained contraction of muscles) followed by clonic activity (alternating contraction and relaxation of muscles in a rhythmic fashion), typically with sudden onset of increased truncal tone that causes the patient to cry out with forced expiration. Incontinence after the spells, as sphincter muscles relax, and postictal impairment of consciousness are common .


  • Atonic seizures (also called “drop attacks”) result in a sudden loss of all muscle tone, causing the patient to fall to the ground, often with injury .


Specific Tests in the Evaluation of Seizures in Children with ASD


Seizures may be either a symptom of an underlying disease (e.g., meningitis, tuberous sclerosis) or a disease diagnosis as in idiopathic generalized epilepsy. It is important to rule out any underlying cause for the seizures and to garner as much information as possible since this will often be helpful in treatment choice. Most children with an ASD and seizures should be referred to pediatric neurology at least to initiate management. The medical home and the specialist should clarify who will be assuming ongoing care, which will depend on the comfort level of the pediatrician.


Looking for underlying conditions

A full history and physical exam should be performed in every child with new onset seizures . This should include a Wood’s lamp exam for skin lesions suggestive of tuberous sclerosis. The clinical history of the event as well as the physical exam should be used to determine the need for any additional workup. For example, a stiff neck and fever would suggest the need for a lumbar puncture; prolonged vomiting episodes might suggest the need for further tests to screen for a metabolic disorder (Hirtz et al. 2000). Children with a new onset seizure disorder and a normal physical and neurologic exam do not need further blood tests .


Electroencephalogram

An EEG (standard wake and sleep; non-sedated if possible) should be performed in all individuals with probable clinical seizures before or at the time of a referral to pediatric neurology. Some individuals with an ASD may be unable to stay still while the EEG electrodes are being placed on their scalps and for the actual EEG monitoring period. If this is the case, an EEG with sedation may be necessary. However, as EEGs performed under sedation can be difficult to interpret and many sedative agents increase brain activity in the beta range (commonly 18–25 Hz), this should be discussed with the pediatric neurologist. If a standard EEG does not provide enough information, additional EEG testing may be ordered by a pediatric neurologist, including long-term video monitoring/EEG. EEG results will be used to decide whether a magnetic resonance imaging (MRI) should be performed (if there is a localized source for seizures seen on EEG) and what medication is most likely to be helpful.


Brain imaging

Brain imaging is not recommended unless the seizure had an obvious focal beginning, (e.g., eyes beating to the left before a generalized seizure), the neurologic exam is abnormal, or if the EEG shows a localized focus of epileptiform activity (Hirtz et al. 2000). When necessary, imaging should be MRI, not computed tomography (CT) as the picture of the brain obtained from MRI is much better than that obtained by CT and there is no radiation exposure. Many children with ASD will need sedation for this, whatever their age as they might have difficulty staying still for the 30–45 min necessary to perform the MRI scan .


Genetics

Children with ASD and seizures, particularly if there are dysmorphic features, may benefit from referral to a medical geneticist. Although guidelines for genetic testing in children with ASD are evolving rapidly, those children with ASD and seizures/epilepsy would be expected to have a higher yield of genetic testing when compared to children with ASD alone (Ezugha et al. 2010; Shen et al. 2010)


Regression and evaluation

In children with ASD and regression, an overnight EEG may be considered if the regression is active or ongoing, occurs after the typical time of regression which is between 1 and 2 years of age, or if regression is multiple/recurrent. The EEG is done to rule out electrical status epilepticus of sleep (ESES; Tuchman R. 2009). One condition associated with severe language regression and seizures, Landau-Kleffner Syndrome, should be considered if the regression is late (after 3 years of age) and primarily involves loss of language rather than loss of social skills. Children with this clinical pattern benefit from further evaluation by pediatric neurologist.


Management of Seizures in Children with ASD



First time seizures

Current guidelines suggest that typically developing children with a first time seizure should not be treated unless the seizure was particularly prolonged or if the underlying neurologic exam is abnormal, as the risk of a subsequent seizure is only 50 % (Haut and Shinnar 2008) . Children with a neurodevelopmental disability such as cerebral palsy have a higher risk of recurrence (Ramos-Lizanna et al. 2009). The recurrence rate of seizures in children with ASD is not known, but, as autism is a neurologically based disorder, children with autism are probably more likely than typically developing children to have a recurrence. Treatment after a single event will need to be decided with the family on an individual basis taking into account clinical features such as length of the seizure, family history of seizures, family concerns about recurrence, and the concurrent use of an antiepileptic medication for seizure prevention and behavioral intervention .


Treating EEG abnormalities

There is no consensus regarding treatment of a child with ASD who has an EEG showing epileptiform activity but who is not having clinical seizures. Because some antiepileptic drugs, such as valproic acid, are also used to treat mood disorders, some families/providers may wish to try antiepileptic drugs empirically, especially if the child has mood instability (Hollander et al. 2001). Because this involves an off-label use of medication and is not standard of care, this will need to be decided on an individual basis. More research to inform the management of children with ASD with epileptiform abnormalities of the EEG but who are not having clinical seizures, is urgently needed.


General seizure management considerations

Families of children who have had a seizure need education whether or not they are started on medication. Important points include:



1.

Children with seizures are more likely to have one if they are tired or ill and parents and caregivers should be more vigilant during these times.

 

2.

While it is not necessary to avoid flashing lights in all children with seizures, they may cause seizures in some (approximately 9 %, this becomes less common with age). The frequency of flashing that is most likely to cause seizures varies from person to person but is generally between 15 and 18 Hz (Hughes 2008) .

 

3.

Children with seizures should be carefully supervised near water (bath tubs, swimming pools, hot tubs), hot water heaters, campfires, saunas, and cooking.

 

4.

Seizures do not cause individuals to swallow their tongues. Caregivers should not try to place anything in the child’s mouth but should lay them on the floor on their side.

 

5.

All caregivers (teachers, etc.) should be aware of seizure precautions and management.

 

6.

Most seizures are likely to stop before 5–10 min (Shinnar et al. 2001a); if they do not stop or the child appears to be having difficulty in breathing, emergency services should be called.

 

7.

Families should consider emergency bracelets, necklaces, or other ways of imparting emergency information.

 

8.

If a child has prolonged seizures, a prescription for a rescue medication may be helpful. Rescue medications include nasal midazolam and rectal valium (Diastat).

 

9.

Families should be referred to reliable sources of information for seizures; examples are the Epilepsy Foundation website (www.​epilepsyfoundati​on.​org) and the seizure module of the Medical Home Portal (www.​medicalhomeporta​l.​org) contains a sample “seizure action plan” that can help providers and families develop shared treatment plans.

 


The use of antiepileptic medications in children with ASD

Children with more than one seizure should generally be started on antiepileptic medication. If seizures stop with medication, treatment is continued for 2 years and then gradually tapered . The choice of which medication to use in children with ASD is more complicated than in a typically developing child as children with ASD will often have associated conditions, including attention problems, anxiety, and sleep problems. These associated conditions need to be considered when choosing medications (Pellock 2004). The choice of the specific medication should weigh the risks of specific side effects with the characteristics of the individual being treated (Azar and Abou-Khalil 2008). Ideally, a medication for seizures will be helpful for both the seizures and the associated condition. For instance, in an open trial of valproic acid in individuals with autism and seizures, impulsivity and aggression improved as well as seizures (Hollander et al. 2001). However, in a survey regarding the perceived effectiveness of medications in individuals with epilepsy and ASD, families responded that although the antiepileptic medications helped treat seizures they worsened other factors such as sleep, behavior, and communication (Frye et al. 2011). For these reasons, in most circumstances the child’s primary care physician should strongly consider obtaining a consultation from a pediatric neurologist to look at this issue carefully. It is possible that several medication trials will be necessary to achieve the optimum balance between seizure control and avoiding behavior, attention, or sleep problems .

Extended release preparations may have fewer side effects than immediate release preparations as blood levels stay more constant. However, extended release preparations may be more expensive as they are often newer and are not considered first line medications by insurance companies. A letter of medical necessity delineating why the extended release preparation is necessary may be helpful.

The form of medication, whether it is liquid, sprinkle capsules, tablets, or capsules must be considered as many children with ASD may refuse to take medications in a certain form (Williams et al. 2000). The active ingredient and additional substances in the tablet or capsule need to be considered if the child is on a special diet. In an individual who has a difficult time with blood draws, medications requiring regular blood monitoring should be avoided when possible .

The effects of antiepileptic medications on appetite should also be considered. Topiramate, which may decrease appetite, might not be the best first choice for children who are very picky eaters. Valproic acid may lead to weight gain.

Children who have difficulty sleeping should not, as the first choice, be put on medications which may keep them awake. For instance, topiramate causes wakefulness in some individuals whereas other medications for seizures may be helpful for sleep induction .

Some of the antiepileptic medications are more helpful in children with generalized epilepsy (levetiracetam, lamotrigine, valproic acid) whereas others are used in those with partial epilepsy (oxcarbazepine; Azar and Abou-Khalil 2008). Many of the newer medications are more expensive than older medications but do not require blood level monitoring so they may be cheaper and easier in the long run. The newer medications are also less likely to have significant side effects and/or drug interactions. All of the medications used for seizures may cause sleepiness, difficulty with retaining information, irritability, and other changes. Most of these will diminish after the first few days of use but may be severe enough to necessitate a trial with a different medication. Medication should be started at the lowest recommended dosage and titrated up with incremental changes to enhance effectiveness and tolerability. Increases in dose can usually be done every few days or weekly. An exception is lamotrigine which requires a longer interval (2 weeks) between dose increases. Written and understandable instructions on how to titrate the dose should be given to the family. As there is no perfect medication, families should be encouraged to stay with one medication for at least a few weeks before coming to a decision about the medication .

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Apr 4, 2017 | Posted by in PSYCHOLOGY | Comments Off on Management of General Medical Conditions

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