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School-Related Medical Issues 2018-19

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John L. Digges, MD, PhD, MPH, FAAP
(Fellow of the American Academy of Pediatrics)
Behavioral Pediatrician

Dr. Digges practiced general and behavioral pediatrics in Oklahoma and California for 14 years. For ten of the past 12 years, he has served as the Forensic (Child Abuse) Pediatrician for Kern County, California; and he has had a private practice limited to ADHD consultations for the past 12 years. He has been a CME surveyor for the Institute of Medical Quality (CMA) since 2000, and is a recent past-President of the Kern County Medical Society. Dr. Digges has been at the DCN since August, 2008.

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  • new!Learning Implications of Klinefelter (47, XXY) Syndrome

Question:

Dear Medical Specialist,

We are a Health Center and we occasionally provide consultation to the local school district concerning health issues that arise in their population of students. One school has contacted us concerning a 10 year old student whom they suspected had mild-moderate ADHD symptoms. He was recently diagnosed with Klinefelter’s Syndrome. They were wondering whether the diagnoses of Klinefelter’s Syndrome and ADHD were related, and if academic performance is affected in boys with KS?

We don’t feel comfortable with answering this question. Could you please provide us with some background on KS and how it affects learning and social interactions, so we can provide them with information relevant to this student?

Thank you for your help,

Consultants Requesting a Consultation


Answer:

Thank you for your question. Klinefelter Syndrome (KS) is a genetic condition, the most common presentation of which is a male having the karyotype of 47, XXY instead of the typical male karyotype of 46, XY. A small proportion have mosaicism, where they have some 47, XXY cells mixed with variable proportions of 46, XY cells, and the symptoms are typically milder. A much smaller percentage have more than one extra X chromosome, and their symptoms tend to get increasingly severe with each extra X chromosome added. The presence of the extra X chromosome(s) has/have an equal probability of having come from the father or the mother, and the 47, XXY condition occurs in about 1-2 out of 1000 male births.

Physically, boys with KS are relatively tall and slender compared to 46, XY males. They often have sleep disturbances and display decreased energy, reduced endurance and appear less agile than 46, XY males. Motor delays are found in about half of males with KS; and these can present as decreased muscle tone, problems with dexterity and coordination (e.g. eating, dressing oneself or tying one’s shoes), and handwriting (dysgraphia). As they enter puberty, reduced testosterone production can lead to a reduction in secondary sexual characteristics.

There is significant variation noted in cognitive and social-emotional development in 47, XXY males. It is estimated that only about 1/3 of the individuals with 47, XXY are diagnosed during their lifetimes. While the diagnosis can be made prenatally, since there is some risk associated with the testing procedure, it currently is not performed regularly. Although a karyotype can be performed from the infant’s blood any time after birth, this test is not currently a part of routine newborn screening.

Reference is often made to “typical” features noted in KS, but there is considerable variation in symptoms seen in males with the KS diagnosis. Both genetic factors (mosaicism, parental origin of the X chromosome, having more than one extra X chromosome, gene polymorphisms, variations in gene expression, etc.) and environmental factors (early diagnosis and interventions, level of parental support, exposures to excessive stressors, etc.) can affect the specific symptoms which are manifested in a particular individual.

With that caveat in mind, some general observations regarding cognitive function and school performance in KS boys are offered. About 50-75% of these students demonstrate deficits involving cognitive functions. Measured IQ is typically 5-10 points lower for 47, XXY boys when compared with 46, XY boys, with most of that deficit appearing to be attributable to weak language skills (suggesting that non-verbal reasoning and visual-spatial skills are relative strengths in the academic setting for students with KS).

In particular, problems with auditory processing are frequently observed. Auditory processing is considered to include three elements which can occur individually or in combination. These three abilities consist of accurately discriminating sounds heard, recalling words (auditory memory), and processing sounds which are heard so the meaning can be understood. Deficits in these core abilities appear to underlie the weaknesses in verbal skills and the language based learning disabilities that have been noted in children with KS.

Some specific receptive language challenges observed include difficulty distinguishing between two similar sounds and difficulty processing and understanding words which are spoken in a noisy environment. Students with KS may have difficulty expressing their thoughts, needs and emotions using words. Some students with KS have difficulty with oromotor planning and coordination of speech, and may be diagnosed with apraxia or dyspraxia of speech.

Boys with KS typically process language more slowly and read more slowly, and have problems comprehending the grammatical and morphological aspects of language. Their specific language function deficits include having trouble grasping concepts presented verbally, displaying problems with word retrieval, and having difficulty with social communication and open-ended conversation. These students have trouble both with processing verbal input and with formulating an appropriate verbal response to that input. This makes highly verbal-dependent environments like classrooms and social situations not only challenging, but also very likely anxiety-producing for them.

About 50% of individuals with KS have been noted to display deficits involving executive function (EF). EF’s include attention, task initiation, active working memory, inhibition, and cognitive flexibility. The reported incidence of Attention Deficit Hyperactivity Disorder (ADHD) in males with KS ranges from 36-63%. Distractibility and inattentive symptoms occur more frequently in the KS population than do hyperactivity and impulsivity. (This contrasts with the 46, XY population, in which ADHD combined presentation is about 5 times as common as is ADHD predominantly inattentive presentation. In the population of 46, XX females, ADHD combined presentation and ADHD predominantly inattentive presentation occur with about equal frequency.) Deficits in cognitive flexibility (the ability to shift attention between two or more concepts, which is integral to being able to modify behavior in order to appropriately respond to a changing environment) may also contribute to difficulties in social communication. By the time they reach adulthood, however, most males with KS will have learned to speak clearly and converse normally. Unfortunately, they often still struggle with work which requires extensive reading and writing and with social interactions.

Some articles have reported that distractibility in males with KS may result from the student’s having difficulty remaining on task for work that he is not able to understand due to his language deficits. They contend that “attention” problems may be attributable to verbal processing deficits or language-based learning disabilities rather than an additional co-morbid attentional disorder. An article from 2003 (Fales et al) noted that the “executive dysfunction” observed is limited to the verbal domain, and may result from verbal deficits and language weaknesses which persist throughout childhood and into adolescence. It therefore may be necessary in each child with KS to determine whether their executive function weaknesses seem to be due solely to language deficits, or whether their symptoms are more pervasive and warrant an ADHD diagnosis.

Previous studies involving 47, XXY males have shown an increased incidence of social withdrawal, social anxiety, shyness, and inappropriate social behavior when compared to 46, XY males. In a study on 31 adult Dutch males with KS, the KS population scored significantly higher on autistic traits (autism spectrum quotient or AQ score) than matched non-KS controls on all tested domains: social skills, attention switching, attention to detail, communication, and imagination. (van Rijn et al 2008) The higher an individual with KS scored on autistic traits, the less frequently they reported participating in social activities and the more often they reported experiencing distress during social interactions.

Given these predispositions in students with KS, it would be prudent to consider having your student receive a psychoeducational evaluation by a speech and language pathologist and a school psychologist (cognitive testing). Your student may also benefit from counselling services (e.g. social skills training and supports for executive function deficits). His parents will need to maintain close contact with his pediatrician, who can help coordinate care and make referrals as appropriate. Depending on their symptoms, children with KS may need referral to an endocrinologist or a behavioral pediatrician, child psychiatrist dermatologist, gastroenterologist, hematologist, nephrologist, neurologist, and/or a rheumatologist. Hormonal replacement therapy is generally prescribed at about age 12 years or so and is typically continued life-long.

If the ADHD predominantly inattentive presentation diagnosis is confirmed in your student; and it is determined that his symptoms are interfering with his school performance, then a multimodal approach to treatment is recommended. Stimulant medications can be an important component of the integrated therapeutic approach to treating ADHD symptoms. Interestingly, children with the predominantly inattentive presentation of ADHD often respond to lower stimulant doses than are needed in children with the combined presentation.

Thank you for your question. I hope my response will help you in your efforts to assist the district to see that this student receives the help he needs.

John L. Digges, MD, PhD, MPH, FAAP Behavioral Pediatrician Diagnostic Center for Northern California Fremont California


  • Cystic fibrosis and hearing loss in a third grader

Question:

I am a school nurse, and one of the third grade students in our district has cystic fibrosis. He doesn’t have much in the way of respiratory symptoms, but he has been diagnosed with a bilateral mild-moderate sensorineural hearing loss. He has been prescribed hearing aids, but rarely wears them.
I have two questions about his hearing loss:

  1. Is it likely to be related to his CF, or is it just a coincidence?
  2. How likely is it that such a hearing loss could affect his school performance, given that he doesn’t wear his hearing aids?

Thank you,
School Nurse, Midwest City, Oklahoma


Answer:

Dear School Nurse,

Thank you for your questions. Sensorineural hearing loss (SNHL) in a child with cystic fibrosis (CF) could be the result of ototoxicity related to a class of antibiotics (aminoglycosides) often used to treat the pulmonary infections which are frequently seen in CF. The likelihood of developing mild-moderate sensorineural hearing loss as a result of exposure to aminoglycosides is estimated to vary between 1 and 15% of those CF patients who were exposed. Sustaining SNHL as a result of such exposure seems to depend upon both the dose of antibiotic received and whether or not the individual has a specific genetic predisposition.

However, there is evidence that a substantial portion of the SNHL experienced by CF patients is not related to toxicity from antibiotic exposure. An article from 2010 found a 4-11% prevalence of sensorineural hearing loss (SNHL) in 120 patients with CF (ages 5 months to 18 years). Since only 42% of those patients had been exposed to aminoglycosides, and comparison of the groups with and without aminoglycoside exposure revealed no significant differences between the two groups in prevalence of SNHL, the authors concluded that there must be etiologies for SNHL in CF other than aminoglycoside exposure.

It is estimated that about 1 in 600 births will result in some degree of hearing loss caused by genetic factors. The degree of hearing loss reflects a complex interaction between varying forms of the gene causing the hearing loss, modifier genes acting to either worsen or lessen the effect of the gene on hearing loss, and environmental influences (including exposure to ototoxic drugs). There are mutations in at least 45 different genes known to be associated with hearing loss, and more than 100 different deafness-related loci and their associated genes have been identified and studied.

As one example, mutations of the Connexin 26 protein produced by the GJB2 (gap junction beta 2) gene result in decreased communication between cells. This reduced intercellular communication results in insufficient production of Connexin 26 protein, which allows potassium concentrations in the inner ear to increase to toxic levels. Excessive potassium levels can destroy neurons which are needed for normal hearing. A second example involves the mitochondrial gene which encodes the 12S ribosomal RNA. Mutations in this gene may account for genetic hearing loss in the absence of exposure to aminoglycoside antibiotics, and may potentiate SNHL in the presence of aminoglycoside antibiotics.

With respect to your second question, it is recognized that even mild to moderate bilateral SNHL can interfere with a child’s school performance. Children who have bilateral hearing loss often demonstrate delays in their rate of language acquisition. Once they start attending school, they spend much of their day utilizing both active and passive listening in the pursuit of knowledge. Due to their hearing loss, they may not be able to access all of the speech sounds and may therefore “mishear” spoken words. Studies indicate that children who are unable to hear all of the sounds accurately may employ an adaptive strategy called auditory cognitive closure, in which they use context to deduce a sound they did not hear. This strategy works for much of the time, but is dependent upon a solid fund of background knowledge. Even when they have such a solid knowledge foundation, they can find themselves immersed in ambiguity and often having to replay or re-think the message in order to determine its meaning. This compensatory process can be successful in allowing the student to finally understand the meaning, but it is a labor intensive process which causes fatigue.

Tasks which place a high demand on both attention and memory can also be expected to extract a disproportionately larger energy toll from hearing impaired students than from students who have normal hearing, thereby increasing their fatigue. The effort needed to understand what is being said by others may interfere with their ability to actively attend to what is coming next. In other words, the effort spent on attending to the first part of the message may overwhelm their processing capability at the same time the remainder of the sentence is being presented. Replicating this inefficient learning process throughout the school day is likely to result in a fatigued student who is ill-prepared to participate in the ensuing class discussion.

Hearing words spoken by a communicative partner in a setting where there are competing sounds is especially difficult for students with hearing loss. The process of accurately identifying the speech sounds, ignoring extraneous noises, utilizing background knowledge to close gaps in the auditory message being delivered, process new information and finally store that new information in memory can be exhausting for a student with hearing loss. Whereas children with normal hearing may expend little energy, experience minimal stress, and rarely even have to think about that process; students with a hearing loss often expend lots of energy, find it stressful and may spend an inordinate amount of time thinking about how difficult it is for them to learn by listening to others.

This increased cognitive load associated with auditory learning for students with hearing loss is likely to interfere with the student’s ability to pay attention, follow multi-step instructions and take notes. Consider that a student with normal hearing can hear verbal instructions almost effortlessly while writing down notes. The child with a hearing loss may need to watch for visual cues from the lips and face, process what they hear, and then write it down. The act of writing requires the child to divert their visual focus away from the teacher and towards the paper, but if the teacher continues to talk; then the child with a hearing loss must struggle to look back at the teacher in an effort to minimize the amount of spoken material which they are missing. Just trying to keep up with all of the incoming verbal messages can be exhausting. It is not surprising that a child experiencing auditory fatigue may become very irritable or argumentative and may even refuse to participate further in classroom activities.

Since wearing his hearing aids consistently is likely to dramatically reduce the workload of hearing for the hearing impaired student, it would be prudent to try and identify the obstacles which are preventing your third grader from wearing his hearing aids. Additionally, reducing ambient noise in the classroom and making sure that the teacher’s voice level significantly exceeds the ambient noise level are also strategies which may be helpful.

Thank you for your questions and I hope this information helps you in your work.

John L. Digges, MD, PhD, MPH, FAAP Behavioral Pediatrician, Diagnostic Center for Northern California
  • Stimulant side effects in children with ADHD, autism and anxiety

Question:

We have a 7 year old son who has been diagnosed with autism and ADHD predominantly inattentive presentation.  He is also very anxious. He was treated with Adderall 10 mg tablets, and became very upset and also appeared to be worried about everything for several hours after taking the medication. We were not sure that the medicine caused the response, so we gave it the next day and the same thing happened. We have been told that this means he does not have ADHD, since the medicine did not help but made things worse.

Can you help us understand what all this means?

Stumped and Worried in Arizona


Answer:

Dear Parent,

I believe I can provide you with some possible explanations. Your son’s response to a 10 mg dose of mixed salts of dexamphetamine (Adderall) immediate release (tablet formulation versus capsule called Adderall-XR) may very well make sense, given his diagnoses.

Some children meet DSM 5 (Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition) diagnostic criteria for both autism and ADHD. Many of these children with autism and ADHD seem to be exquisitely sensitive to the side effects occasionally seen with stimulants, such as increased irritability and an increase in the severity of any pre-existing symptoms of anxiety. This may reflect an alteration in the ability of their enzyme systems to metabolize stimulant medications, so the dose given may remain in the system for a longer period of time than is seen in children who metabolize stimulants more efficiently.

His increase in irritability and apparent anxiety may reflect his sensitivity to the potential side effects of stimulant medication. Such side effects are often dose related, and tend to increase and decrease in severity as the amount of medicine in the system increases and decreases in a “bell-shaped curve” distribution. His increased sensitivity may be due to his autism (possibly related to its impact on his enzyme function), causing him to show symptoms earlier and have them last longer than would someone who was not exquisitely sensitive to the side effects of stimulant medications.

This limited ability to tolerate a stimulant medication prescribed to help decrease his ADHD symptoms may therefore be related to his additional diagnosis of autism, rather than to his not having ADHD. His pre-existing anxiety might also render him more likely to show an increase in symptoms of anxiety in response to the stimulant medication.
Assuming his autism, ADHD and anxiety are all accurate assessments, then there are a number of options available to consider. If the ADHD symptoms are believed to be more of a threat to his successful performance in life than his anxiety, then treating them first is reasonable. (If his anxiety were deemed the more debilitating of the two diagnoses, then treatment aimed at reducing that burden could reasonably precede addressing his ADHD symptoms with medication.)

If the decision is made to treat the ADHD first, then education of the parents and the child about the condition is a crucial initial step in the treatment process. Parenting strategies and psychosocial supports for the child are also integral components of the treatment process. Medication can then be considered after the other supports have been provided and strategies have been implemented. (The local CHADD chapter in your community can be an excellent resource.)

One option would be a trial of a very low dose of a somewhat less potent stimulant molecule (e.g. dex-methylphenidate or Focalin) in either an immediate release formulation (Focalin tablet) or an extended release formulation (Focalin-XR).  Stimulants have the advantage of acting quickly, so an assessment as to efficacy can be made after a few days. Interestingly, lower doses of stimulant medication can often be used to obtain acceptable symptom relief in children with the predominantly inattentive presentation, when compared with children having the combined presentation.

The desired goal is for the target ADHD symptoms to be reduced and no unacceptable side effects to occur. At the lowest doses, neither outcome may occur. A very gradual increase in dose (titration) can then be conducted, looking for the lowest dose at which significant symptom reduction occurs and whatever side effects do occur can be handled without exceptional effort. This dose could then be maintained until such time as the core symptoms of ADHD became more problematic. At that point in time, another very gradual titration could be performed in a similar fashion as the initial titration.

If the stimulant trial is unsuccessful, then non-stimulant medications for treatment of the ADHD symptoms could be considered. These include guanfacine (short acting Tenex, long acting Intuniv), clonidine (long acting is called Kapvay) and atomoxetine (Strattera). Each of these medications has advantages and disadvantages, which should be discussed with the child’s physician.

I realize I have just touched the surface of the topic of medication usage for reduction of ADHD symptoms in children with multiple diagnoses. Nevertheless, I hope this information is helpful. You might consider contacting the local CHADD chapter in your area to see if they can help you locate a physician who is both knowledgeable about and experienced in treating children who have ADHD and also other coexisting conditions such as anxiety and autism.

Here’s the link to the CHADD Arizona Chapter(s):
http://www.chadd.org/Membership/Affiliate-Services/Find-a-Chapter.aspx?state=279640004

Thank you for your question and I wish you well in your efforts.

John L. Digges, MD, PhD, MPH, FAAP
Behavioral Pediatrician, Diagnostic Center for Northern California


  • Self-toileting aids for students

Question:

Greetings!

As a district, we have a question about self-help in the bathroom for one of our older high school students. His team has tried various strategies/materials/tools to help with perianal care due to having short arms that cannot reach. We are thinking of a bidet for him. We were wondering if the Diagnostic Center could provide some ideas of tools to use or what are next steps could be to help with independence with this need.

Thank you, in advance, for your response.

Mary


Answer:

Dear Mary,

Thank you for your question. A Google search revealed a 1980 article By L. Friedmann that addressed toileting self-care issues for individuals with upper extremities of insufficient length to accomplish genital and perianal cleaning tasks. The article included examples of several home-made devices.

Another search revealed that a few such reach-extending devices are now available for purchase, ranging between about $40 and $60 (e.g. “Bottom Buddy Toilet Tissue Aid,” “Compact Folding Easywipe Toilet Aid,” “Self Wipe Toilet Aid,” and Torkel Toilet Tissue Aid.”). There was also a hand held bidet commercially available for about $40 that can be attached directly to the supply line on the flush tank of a standard toilet. (“Big John Hand-Held Bidet”)

Hopefully one or more of these devices will be helpful for your student.

John L. Digges, MD, PhD, MPH
Behavioral Pediatrician
Diagnostic Center for Northern California


  • Potential sources for infants and children’s exposure to lead

Question:

We have a 6 year old student who has a history of having been exposed to lead. He was raised in a home built in the past decade, so eating paint chips doesn’t seem a likely source for his exposure. What other possible sources of lead exposure are there for young children and how might the exposure affect school performance?


Answer:

Since lead in paint has been prohibited in the United States since 1978, I would agree that it is an unlikely source for his exposure. In addition to paint chips and dust and soil contaminated by lead (inorganic lead sources), leakage of leaded gasoline (organic lead) into soil is potentially a much greater health concern. Organic lead can be absorbed through the skin as well as being ingested or inhaled. So if the area where he grew up was near facilities which produced, dispensed or stored leaded gasoline in the past, soil contamination/dust could represent a far more serious concern for significant exposure.

Pipes used to deliver drinking water in the past may have been connected using lead solder, thus allowing children to ingest inorganic lead when they drank the water. (Whereas boiling water helps to remove microorganisms, it does not help to remove lead from water. In fact, allowing the water to heat up in a system where the pipes have been contaminated with lead actually leads to higher lead concentrations in the water.) Leaf and root vegetables may absorb lead from contaminated soil, and atmospheric lead may deposit onto leafy vegetables. The production, processing and storage of food can also involve possible contamination by lead.

Artificial turf, artificial Christmas trees, automotive batteries and weights used in the past to balance automobile tires (and make lead soldiers), fishing tackle, some jewelry, pewter, some ceramic glazes, some antique or imported toys, vinyl miniblinds made prior to 1997, and imported folk remedies and cosmetics are also possible sources for contamination of toddlers with inorganic lead.

Second hand smoke, including that exhaled by the smoker and that coming from a burning tobacco source, can produce an increase in blood lead levels in children. Third hand smoke refers to deposits of smoke residue on objects. Since toddlers spend a lot of time inside, smoking inside the buildings where the toddlers play may also contribute to increased blood lead levels in children who live in buildings where others have smoked.
Once lead enters a child’s body, it enters the blood and may be distributed to mineralizing tissues (bones and teeth) or soft tissues (brain, lungs, liver, spleen, kidneys and muscle (including heart). Small particle sources of lead (inhaled) lead to higher lead absorption than large paint chips (ingested). Children absorb about 50% of lead ingested after a meal, and about 100% of lead ingested on an empty stomach.

Much of the lead that enters the body is excreted either in the urine or in bowel movements. Most of the lead in the body is in bones, and in children it is primarily trabecular bone due to its high rate of calcification. Lead can remain in the bone for long periods of time, where it is relatively inert. Besides normal bone growth, which is accelerated in children compared with adults, lead tends to leave bone and re-enter the blood during times of bone injury and subsequent repair; chronic disease conditions (including hyperthyroidism and kidney disease, being physically immobilized / bed-ridden, and; physiologic stress. A relative or absolute calcium deficiency will cause more lead to leave bone and enter blood in the above cited conditions.

Lead is a potent neurotoxin in young children at levels > 10 micrograms/100 ml, and likely causes significant damage at levels >5 micrograms/100 ml. In addition to being a direct toxin to neural tissue, lead can also inhibit the absorption of iron, zinc and calcium, all of which are essential for proper development of neural tissue. Elevated blood lead levels in children have been associated with lowered IQ, delayed learning, reduced fine-motor coordination, and increased executive function deficits (i.e. increased incidence of ADHD-like behaviors). Studies have linked increased lead levels in blood and bone to increased aggression, destructive behavior and an increase in problem behaviors including criminal behavior.

Thank you for your question, and I hope this is helpful.

John L. Digges, MD, PhD, MPH
Behavioral Pediatrician
Diagnostic Center for Northern California


  • Catatonia in Adolescents

Question:

We have an 11th grade student with autism who has undergone significant deterioration in motor function and speech over the past couple of months. The student’s doctor has diagnosed “catatonia,” but none of the teachers at our school has any experience with this condition. Can you tell us something about catatonia in a high school student with autism, and in particular how rare is it?


Answer:

Thank you for your question.

The onset of catatonia-like symptoms in adolescents has been written about increasingly over the past 20 years or so. Although previously thought to be quite rare and a subset of schizophrenia, since the 1970’s, it has been identified that catatonia is a specific condition which is often missed and which can occur in association with mental health disorders (e.g. neurodevelopmental disorder, depression, mania, bi-polar disorder, schizophrenia, post-traumatic stress disorder, and eating disorders) or with other medical diagnoses (e.g. neurologic, metabolic or drug induced disorders).

An article published by Wing and Shah in 2000 reported catatonia in 17% of adolescents with ASD, using the criteria for catatonia as: marked slowing of movements and motor responses, difficulty in initiating and completing actions, increased reliance on physical or verbal prompting by others, and increase in passivity associated with an apparent lack of motivation. The referral nature of their practice and the fact that they are known for expertise in catatonia clearly skews the prevalence estimate upwards from what would be expected in the non-referral population. Ninety percent of their adolescent patients with catatonia also demonstrated an unusual gait, about 2/3 demonstrated stiff postures, and just over half demonstrated “freezing,’ difficulty crossing lines, and increased impulsivity. In 43% of their population, a history was provided of stressful precipitating factors, and it was postulated that others may have experienced stressors which were appreciated by the patient but not necessarily by the caretaker providing the history. Most of these individuals experienced onset of catatonic symptoms between 10 and 19 years of age.

More recently, catatonia has been described as a motor dysregulation syndrome in which normal movement is lost despite full physical capacity for movement (Brake and Abidi, 2010). Catatonia can also be described as a state of absent or decreased responsiveness to external stimuli in a person who appears to be awake (Brasic 2016). Various catatonic-symptom rating scales have been developed over the years, although it doesn’t appear that consensus has been obtained yet about a “gold standard” scale.

Although the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM 5) authors did not elect to list catatonia as a distinct entity separate from schizophrenia, they did move in that direction in that they included the diagnoses of Catatonia Associated with Another Mental Disorder, Catatonic Disorder Due to Another Medical Condition and Unspecified Catatonia (to be used when the underlying mental disorder or medical condition is unclear, the full criteria for catatonia are not met, or there is insufficient data to make a more specific diagnosis). (2013)

The DSM 5 lists 12 symptoms: stupor (marked decrease in psychomotor activity and responsiveness to the environment), catalepsy (limbs staying in the same position when someone else attempts to move them), waxy flexibility (slight and even resistance offered in response to positioning by another person), mutism (absent or very limited verbal response), negativism (opposition to or lack of response to instructions or external stimuli), posturing (assuming and maintaining a posture against gravity), mannerism (odd movement, like a caricature of normal action), stereotypy (frequent, repetitive, non-goal directed movements), agitation not induced by external stimuli, grimacing, echolalia (repetition of another’s speech), and echopraxia (mimicking of another’s movements). The DSM 5 diagnosis requires the presence of 3 or more of the 12 features. Catatonia is typically characterized by a marked decrease in psychomotor activity and decreased engagement with others. Some individuals with catatonia may alternate between increased and decreased motor activity, which makes the diagnosis challenging and contributes to under-recognition of the condition.

The benzodiazepine lorazepam is useful in the treatment of catatonia. It has been administered as a test dose in an inpatient setting, to observe for any reduction in catatonic symptoms. If the test dose results in a rapid but transient reduction in symptoms, then higher doses of around 25mg/day of lorazepam have been used over several days, and response to treatment has been reported as high as 70-80%. In those cases where the patient does not tolerate lorazepam or does not experience significant reduction in symptoms, electroconvulsive therapy (ECT) is recommended and has been reported as being successful in up to 95% of cases.

I hope this information is helpful, and that your student receives the help he needs.

John L. Digges, MD, PhD, MPH, FAAP                                                                   
Behavioral Pediatrician                                                                                                     
Diagnostic Center North                                                                                                  
Fremont, California


  • Implications of FASD for learning and behavior in 2nd grade student

Question:

I am a second grade teacher and we have a boy who has been diagnosed with Fetal Alcohol Syndrome. He continues to be non-compliant in class and display outbursts of emotion (which are usually verbal but can sometimes escalate to physical acts). We have gathered behavioral data and implemented many strategies in order to reduce the frequency and severity of his outbursts. Although these efforts have been somewhat successful, our focus has been on behavior management and keeping him and the other students safe.

Could you provide us with information about FAS? Also, are there any medications or strategies you can recommend that might help us to help him access the curriculum and experience more academic success?


Answer:

Thank you for your questions. The DCN behavioral pediatrician and clinical psychologist have prepared a joint response to your question. We will begin by considering the ways in which the consumption of alcohol by a pregnant woman might contribute to the problems you identify in your student.

Alcohol appears to be the most toxic of the substances used by expectant mothers (even more so than heroin, cocaine and methamphetamine). Damage is believed to result from any of a number of possible mechanisms, which include: direct teratogenicity during embryonic development; alterations in the ability of the fetus to synthesize proteins, prostaglandins, and hormones; reduction in nutrient and oxygen delivery to developing brain cells; and alteration in neurotransmitter levels in developing brain neurons. Each of these mechanisms can cause changes in brain structure and function.

How much damage occurs and what functions are affected are determined by a complex (and incompletely understood) interaction between multiple factors: the amount, pattern, timing, and duration of the exposure; genetic factors; mother’s general nutritional and health status, usage of other substances known to be toxic to developing brain tissue, and exposure to high levels of stress and or trauma during her pregnancy. The potential variability implicit in this complex interplay helps account for the broad spectrum of effects seen in children exposed to alcohol prenatally.

Diagnostic labels used to describe the effects of prenatal alcohol exposure have evolved over the last 3 decades. Terms used currently for diagnosis include Fetal Alcohol Syndrome (FAS), Partial Fetal Alcohol Syndrome (pFAS), and Neurobehavioral Disorder-Associated with Prenatal Alcohol Exposure (ND-PAE, which was previously known as Fetal Alcohol Effects (FAE) or Alcohol Related Neurodevelopmental Disorder (ARND)). The diagnosis of FAS means that a child was exposed to alcohol early enough in the gestation to result in changes to the developing face and skull as well as to the developing brain. The FAS diagnosis further specifies that the child will display reductions in stature, weight and head circumference; along with the classic findings of a smooth philtrum, thin upper lip and reduced distance between the medial and lateral canthi (inner and outer edges) of the eye. The last 3 features involve midline facial structures, the presence of which is highly correlated with underlying brain malformation and dysfunction. Reduced palpebral fissure length in particular has been shown to reflect a defect in forebrain development, and it is the forebrain which ultimately develops into the cerebral hemispheres (overall cognitive processes), hippocampus (learning and consolidation of memory), basal ganglia (time perception and cause-and-effect relationships), thalamus (efficient sensory processing), hypothalamus, (regulation and control of such bodily functions as temperature, hunger, thirst and rage), corpus callosum (integration between right and left hemispheres, e.g., processing visual and verbal input, emotions and logic), and frontal lobes (self-reflection, impulse control, planning, and working towards the completion of goals).

The great majority of children exposed to alcohol prenatally will not display the full features of FAS, but can manifest any degree of brain injury along the spectrum from mild to severe. If they have a confirmed history of prenatal exposure to alcohol and one or two of the three facial criteria (with or without growth deficiency) they can be diagnosed with pFAS. A third diagnostic category which has been proposed is Neurodevelopmental Disorder associated with Prenatal Alcohol Exposure (ND-PAE, which is currently coded as ICD-10-CM F88 “other specified neurodevelopmental disorder”/neurodevelopmental disorder associated with prenatal alcohol exposure). For convenience, all of the previous diagnostic entities (FAS, pFAS and ND-PAE) can be subsumed under the “umbrella” term Fetal Alcohol Spectrum Disorder (FASD). Since we are not certain of the specific features present in your student; and the neurodevelopmental challenges are not distinguishable between the various groups, we will use the term FASD throughout the remainder of this response.

Although all children with FASD will be expected to have some combination of brain deficits, only rarely will a child have impairments in all domains of function. Not surprisingly, the principle problem areas for children with FASD characteristically involve the following functional domains:

•           planning, sequential processing, and awareness of time;
•           learning, memory, and generalization;
•           spatial concepts and spatial memory;
•           social awareness and adaptive behavior; and
•           motor skills, including oromotor control.

Deficits in these areas of brain function will often manifest as challenges with:

•           remembering rules and following multi-step tasks;
•           remembering appointments or assignments;
•           interpreting social cues;
•           observing appropriate interpersonal boundaries;
•           participating in group activities without disrupting them;
•           processing information quickly and accurately; and
•           behaving appropriately with same age peers;
or
•           behaving socially at an age-appropriate level.

Almost all students with FASD will have significant deficits in social and emotional development, and the discrepancy in social skill level between them and their peers will generally increase as they grow older. Despite having deficits in any or all of these areas, students with FASD do learn. Most of them develop basic academic skills during early elementary school and continue to develop their talents and master new skills in their areas of interest throughout their lives. They are often sociable, humorous and fun to be around. However, because most students with FASD have unusual patterns of ability (relative personal strengths and weaknesses), their behavior can seem unpredictable and confusing. It can be easy for adults and peers to lose patience if they do not know what to expect.

Students with FASD often present initially as being more capable and neuro-typical in their development than they actually are. They can acquire reasonably extensive vocabularies and may become competent at telling simple stories and anecdotes. Many have little shyness or fear of strangers, enjoy chatting with people they meet, and demonstrate a relative strength in the area of expressive language.

Only a small percentage of these children will score in the intellectual disability range at an early age. Most will score in the “below average” to “high average” range during their first years of elementary school. If they have repeated testing, their scores tend to decrease over time. Children with FASD typically do not develop complex, abstract thinking and problem-solving skills at the same rate, or to the same extent, as their peers. However, even when they get older, despite experiencing mild declines in their test scores, their cognitive and academic test scores often overestimate their level of functioning and underestimate their level of need for structure and supervision in daily life. Their deficits in social and emotional development make it increasingly difficult for them to adapt appropriately to increasingly complex environments where they are confronted with higher-level demands and expectations.

Students with FASD characteristically have difficulty generalizing and applying skills learned in a specific context to challenges they face in everyday life. Some have trouble with sequential processing, making it difficult to follow a routine unless they have a visual depiction of it in front of them. Sequential processing difficulties make it more difficult to develop a sense of time and to recognize cause-and-effect patterns. They do learn from experience, but often require considerable repetition.

Although they may learn to read and write and to communicate verbally with others; as they grow older, the concreteness and lack of variety or complexity in their communication becomes more apparent. It has been observed that many individuals with FASD seem not to demonstrate (or less reliably demonstrate) “good judgement” or “common sense.” Although these qualities are difficult to define operationally or measure, most observers can recognize the deficits when they are present. Even with explicit teaching, learning to exercise good judgement in their daily lives can be a formidable lifelong challenge.

Deficits in judgement often present as being more severe in individuals with FASD and no intellectual disability (ID) than in individuals with mild ID. Their lack of “good judgement” and “better than expected” superficial communication skills place students with FASD at increased risk of experiencing violence and trauma, being victimized, putting selves at risk of accidental injury or death (e.g., walking in front of traffic without checking), repeated involvement with the legal system, developing mental health conditions, and suicide.

Fortunately, there are resources available to help children with FAS, and many will be eligible for Regional Center Services in California. Most recommended interventions emphasize the need to provide a supportive, non-traumatizing environment which provides a safe place for them to grow and which recognizes and builds upon each student’s individual strengths. Having at least one adult they feel they can depend upon in any stressful situation is viewed as critical to their success. Additionally, identifying one or more “islands of competence” can be exceedingly helpful for them to experience success and develop a positive self-image. These elements can provide a basis upon which to customize a modified curriculum which builds upon the student’s own interests and strengths. Being exposed to supportive and patient adults will be key to achieving the highest attainable degree of success.

Even though there is no “cure” for the symptoms associated with FAS, early diagnosis followed by therapeutic intervention is crucial. Medications can play a role in addressing certain symptom complexes which are often seen in children with FAS. Unfortunately, the ADHD-like symptoms exhibited by students with FAS often do not respond well to stimulant preparations, which represent the mainstay of pharmacological treatment of symptoms in children with ADHD who were not exposed to alcohol prenatally. Non-stimulant preparations such as extended release guanfacine (trade name Intuniv), extended release clonidine (trade name Kapvay) and atomoxetine (trade name Strattera) are possible choices to help reduce their symptoms. A team approach is optimal, and should include a physician with experience in treating the symptoms often experienced by children with FAS. Although these physicians may be found in any community, they will often be associated with medical centers and teaching hospitals.

Thank you for your questions, and we hope your student receives the help he needs.

John L. Digges, MD, PhD, MPH, FAAP
Behavioral Pediatrician
Margaret Stivers, PhD
Clinical Psychologist
Diagnostic Center North
Fremont, California


  • An increase in ADHD symptoms despite continuing on Concerta

Question:

We have a 7 year old male student with ADHD, who showed significant improvement after he was started on Concerta last year. His dose was gradually increased to 36mg over a few weeks, and he has been doing well for several months.

Recently after returning from Winter Break, his old symptoms have returned. We thought he was just having trouble getting back into the school routine, but his distractibility, difficulty initiating work both in school and for homework, and his impulsive behaviors have resurfaced and persisted. Can you offer any possible explanations?


Answer:

When I hear of an ADHD student having experienced improvement on medication followed by a noticeable return of ADHD symptoms, I wonder about any changes which may have occurred. For your student, has there been any significant change in his life (injury, illness, incarceration or death of a family member; loss of employment of one or both parents; having to move residences; etc.)? Has the school situation changed significantly (new teacher, best friend moved away, being bullied, course material overwhelming, etc.)? An acute loss or other stressor can cause substantial disruption in a child’s routine, and may divert their interest and energy away from school work. If discreet inquiry reveals the child has experienced such a loss or stressor, providing the child with access to resources and emotional support to address the loss/stressor can be quite helpful. Is he continuing to take his medications as prescribed? After experiencing success on the medication, children (or parents) sometimes believe they can maintain the improvement without the medication, and stop taking it.

Another possible cause relates to the specific medication he was prescribed. All stimulant preparations used to treat ADHD can be viewed as consisting of first, a molecule and second, a release mechanism; each of which will affect the efficacy of the preparation. The product he was prescribed, Concerta, is the brand name for d,l-methylphenidate, and employs the OROS (osmotic release oral system) delivery method. If the physician writes the prescription so that it allows for generic substitution, there have been 3 preparations from which the pharmacist could choose. There is one generic that uses the same molecule and the same release mechanism, but there are two generic products that use the same molecule but a different release mechanism.

The OROS release mechanism consists of a non-soluble tablet which has a laser drilled hole at one end, 3 equal sized chambers internally, and a coating applied to the outside of the tablet which contains 22% of the total dose. An additional 26% of the total dose is contained in a slurry in the first chamber, while 52% of the total dose is compressed into a slurry in the second chamber. The third chamber contains a non-soluble fiber matrix (“push compartment”).

After the tablet is swallowed, the coating with 22% of the total dose dissolves rather quickly, and the medication then enters the blood stream in about 45 minutes or so. Once the coating has dissolved, the tablet becomes semi-permeable to water, allowing water to enter into the third compartment and interact with the matrix. The matrix then starts to expand at a predictable rate, pushing the medication slurry through the opening adjacent to the 1st compartment. The 26% contained in this compartment leaves the tablet over a ~3-4 hour period, followed by the 52% in the second compartment also being pushed out over a ~3-4 hour period. This elegant arrangement allows for a smooth upslope of medication in the blood for about 6-9 hours after ingestion.

It is this period of “upslope” of the pharmacokinetic curve which is associated with the improvements seen in focus and resistance to distraction. (The reduction in non-goal-directed motor activity excess is attributed to the higher concentration of medicine in the system, so it roughly equates to the middle portion of the curve). Tablet preparations which do not employ the OROS system generally produce a similar upslope of the curve for the first 2 hours, but then produce a plateau for the next 4-5 hours. This results in improved focus for the first 2 hours, but is typically followed by a period where the concentration is high enough to reduce non-goal-directed motor activity excess; but the lack of upslope results in a lack of improvement in the symptoms of inattention, easy distractibility, and difficulty with both initiating and completing work.

In November 2014, the FDA recognized the lack of equivalence between the two non-OROS generics and the brand name Concerta (made by Janssen) or the OROS generic (made by Janssen but marketed by Actavis under a licensing agreement). The FDA changed their therapeutic equivalence code from “AB” (equivalence) to “BX” (data are insufficient to determine therapeutic equivalence). Additionally, the FDA requested the other two manufacturers to either voluntarily withdraw their products from the market, or within six months, provide data to confirm bioequivalence. They did neither, but pharmacists were permitted to continue to fill “Concerta” prescriptions that allowed for generic substitution with the two non-bioequivalent products. In November of 2016, the FDA proposed to withdraw approval of the two non-equivalent products, a process likely to result in only OROS products being able to be sold as bioequivalent to Concerta.

It is possible, then, that the child’s increase in ADHD symptoms may reflect a change in the preparation he received from the pharmacy at his most recent refill. The Concerta-equivalent product will have either Janssen or Actavis on the label, and the tablet will have “ALZA” imprinted on it. If the label has another company listed and the tablets do not have “ALZA” imprinted on them, then the tablet is not bio-equivalent with Concerta.

I hope this is helpful, both for your student and potentially for other students that have been affected by the substitution of non-bioequivalent products for Concerta.

John L. Digges, MD, PhD, MPH, FAAP Behavioral Pediatrician, Diagnostic Center North, Fremont, California


  • Making sense of a child with features of ASD, ADHD and Williams Syndrome (WS), but none of the facial features typically associated with WS

Question:

We have an 8 year old student who functions cognitively at about the kindergarten to first grade level. His strengths seem to be in rote memory recall and expressive language. He has been diagnosed with Attention Deficit/Hyperactivity Disorder (ADHD) and also has some autistic-like features. He is very hyperactive, easily distractible, unable to complete assigned work, and seems oblivious that the ringing bell means it’s time to line up. He has enormous difficulty transitioning from one activity to the next, and he is quite impulsive. He also perseverates a lot, often displays echolalia, flaps his hands frequently when excited, tantrums and screams loudly when he doesn’t get his way, swats at others when annoyed by them, and seems to exist in a world of his own. He typically spends time outside engaging in sensory-stimulating activities, such as repetitively throwing small pieces of bark into the air and watching them fall to the ground. While inside, he appears enthralled by watching the sand fall from the top portion of the container to the bottom through the narrowed orifice of the hourglass timer.

Despite having features consistent with autism, he seems to be very social. He will point to preferred objects to attract the attention of others, appears to enjoy sharing with others and sometimes talking with peers or adults, but often he just seems to be talking to no one in particular. These comments that are unrelated to the task at hand are very disruptive in the classroom, and comments appear to contribute to his being ignored by his peers or being referred to as “weird.”

His pediatrician believes he has Williams Syndrome and not autism, but confirmatory genetics studies have not yet been completed. My concern is that when I Google Williams Syndrome, the description provided seems to fit our student, but he does not look anything like the pictures they show as being characteristic of Williams Syndrome. Could you help us make sense of this confusing picture?


Answer:

Perhaps I can. Children with Williams Syndrome (WS) are missing variable portions of a particular region located on the long arm of the 7th chromosome (7q11.23). This region is suspected of coding for about 20 or so genes. The variable presentation of WS is believed to reflect which specific genes are missing (deleted) from the normal 7th chromosome. For example, the absence of the gene known as GTF2IRD1 is believed to be responsible for producing the characteristic facial features of WS: broad forehead, prominent “starburst” or white lacey pattern on the colored portion of the eye (iris) in blue and green eyed children, shortened distance between each corner of the eye (short palpebral fissure), puffiness around the eyes/full cheeks, small upturned nose, depressed nasal bridge, prominent/full lips, an open mouth, and small chin. Children missing a portion of 7q11.23 but still retaining GTF2IRD1 could have WS but lack the characteristic facial findings.

Features such as strong rote memory skills, well developed spoken language, outgoing and engaging personality coupled with displaying an extreme interest in other people are all consistent with WS. Children with WS will often manifest mild to moderate intellectual disability, learning problems, hyperactivity, distractibility, impulsivity, anxiety and phobias. Fine motor skills and spatial relations are often weak in children with WS.

Other characteristics frequently seen in children with WS include some type of heart or great vessel problem, elevated calcium levels in the blood, feeding difficulties in early childhood, abnormal dentition, problems involving kidney structure or function, hernias, joint laxity, and ultra-sensitive hearing (hyperacusis, or painful sensations associated with certain sound frequencies or intensity). Many children with WS, in addition to their extreme sociability and politeness, will often display heighted interest in or ability involving music.

With respect to autistic features, there are numerous reports of overlap between characteristics of WS and autistic spectrum disorder (ASD). Individuals in both groups display language delays, developmental delays, problems with motor skills, hypersensitivity to sounds, perseveration, and the tendency to be “picky” eaters. However, the two groups represent polar opposites when it comes to “social profile,” with the WS children displaying hypersociability and the ASD children characterized by social avoidance. Whereas excessive sociability and an extreme interest in interacting with people represent the core behavioral features of WS, impairments in social functioning and verbal communication are consistently observed in children with ASD. Children with WS typically possess elaborate vocabularies and affect-rich expressive language, whereas children with ASD almost universally manifest a deficit in the “communicative use” of language.

It would appear that your student’s excessively social personality would preclude a formal diagnosis of autism; but together with his developmental delays, ADHD-like symptoms and well developed speech, may very well be consistent with Williams Syndrome. This diagnosis can be confirmed by array CGH (comparative genomic hybridization) testing. Knowing the diagnosis can also alert the physician and family to check for comorbid conditions associated with it.

Thank you for your question, and I hope this helps.

John L. Digges, MD, PhD, MPH, FAAP
Diagnostic Center - Northern California