You Should Make Arrangements

I will always remember these words. When I was a freshman in college my father died from liver failure due to infectious hepatitis.  He and two of his brothers had contracted this insidious disease as young boys while swimming in water too close to our local sewage treatment plant. Although the slow progression of his illness provided me many years of opportunity to prepare for his death, I stood transfixed next to my mother when we were told it was time to make arrangements.  I never forgot these simple words.  I walked down the hospital corridor and found a side stairwell and cried.

Although I have heard these words many times throughout my medical care it took many years to understand them.  A mother recently recounted to me how a neonatologist told her the death of her premature infant was near and she should begin to make arrangements.  Her eyes filled with tears and then she suddenly began to smile.  She proudly told me her son survived and was now grown and healthy. In that moment I again understood the meaning of those words.

A parent’s life is filled with joy bordered by fear and the risk of loss. We listen and watch as our children say their first word or take a first step. Her eyes are sprinkled with a realization she does not know how to get down. We remember driving tests, first dates and the morning after the prom. We live for times of safety and security and avoid the fear.

This mother reminded me about the depth and power of words.  As a neurologist and pediatrician I have spoken with many parents whose child was near death. I tried to listen, console, explain and prepare them for the impossible, the death of their child. I believed compassion and understanding would be the gateways to solace for parents. I believed my saying the right words could prepare parents for their child’s death. I was wrong.

I now believe death is best prepared for not by words but rather by choice and understanding.  Our beliefs and attitudes provide the necessary and unending power to seek and find healing and understanding from within.

TMJ Disorders and Bruxism

The temporomandibular joint (TMJ) is the joint that connects the lower jaw (mandible) to the side of your head in front of your ear. This joint moves up and down, in and out and side to side. Muscles surround this joint and coordinate all jaw movements including talking, chewing and yawning. This joint is special due to the need to have a high amount of flexibility in order to bite and chew effectively.  Within this joint is a soft disc that serves as a shock absorber just as the cartilage(meniscus) in your knee does.

Any problem with this joint that involves the muscles or the joint itself can cause a TMJ disorder. The joint itself may be damaged from trauma or arthritis. Most problems are minor and improve with time. One or both joints may be involved.

The most common symptoms include pain in the area of the joint extending down the jawbone, into the neck or up the face. There may be jaw stiffness or limited range of motion of the jaw. Some jaw “locking” may be felt. At times painful clicking, popping or grating may be evident.  Minor jaw sounds without pain or limited jaw movement is usually normal. Many people have sleep bruxism (clenching, bracing, gnashing or grinding movements of the teeth while asleep) without any TMJ complaints. Similar movements can also occur while awake and this is called awake bruxism.

If you have this type of problem simple strategies to allow your jaw time to heal include limiting forceful chewing by avoiding hard foods that require chewing and avoiding extreme mouth opening such as yawning and loud singing or yelling. The use of ice and jaw muscle relaxation strategies can also help.  Sometimes a stabilizing splint called a bite guard is prescribed. This should only be used under supervision of your doctor or dentist since it may alter your bite pattern and exacerbate TMJ problems.  The best treatments are time and patience.

It is well known many people who have recurrent headaches also have a TMJ Disorder.  In these situations each of the disorders need to be assessed individually in terms of causation and treatment.  A thorough evaluation will help determine if headache pain is due to the TMJ Disorder.

A Last Hug

A week ago I was in my office when a parent came in to obtain some medical records concerning her child. He was graduating from college and it was time for him to leave my pediatric practice. I had cared for him since he was an infant. Through twenty years of forms, physicals and memories I watched him go to kindergarten, high school and then college.

As his pediatrician I had one of the best views and little of the work.  I saw him in the nursery, arranged for his immunizations, listened to the tale of his first steps and helped care for him when he was ill. My glimpses were brief but full of change. I remembered completing his sixth grade and driver’s physicals. I heard about his love of sports and reading. I listened to his wish list of colleges and could see his face when he told me he was accepted at his dream college. We talked about adolescent issues concerning sex, drugs, alcohol and the importance of respectful relationships and learning how to listen to others. He grew older as did I and each year he returned for his annual physical and we talked.

He grew up and it was time for him to graduate and move on. We talked about this transition at his last visit and I gave him a list of several local physicians I trusted.  He said he was moving to a new city. We talked about calling the medical society in his new location and getting a list of board certified physicians and arranging a visit. We talked about how to seek out recommendations from friends and family members in the new location.  We discussed joining a congregation, a service organization and a running club to help find new friends and make new relationships.  What we did not talk about was the ending of our relationship.

Now his mom was standing at the check-in window. She saw me and told me through the window she would miss our visits and wanted to thank me for twenty years of help and advice. I listened and walked out to the waiting room and gave her a hug. I told her watching a child grow up is my greatest joy and the reason I am inspired to come to work every day.  I asked her to tell have her son to send me a card when he is settled in his new job.

As she turned to leave I realized I had not given her son a hug at his last visit. I called after her and asked her to give him one for me. As she left the office I promised myself never to miss a last hug again.

Medication Overuse Headache in Children

If your child has a history of frequent headaches that require the use of acetaminophen or ibuprofen for a minimum of 15 days per month for a period of at least 3 months then your child meets the criteria for medication overuse headache (MOH).  This is a common problem for many adolescents who are prone to take medication without adult supervision to relieve head pain. This places them at risk to have worsening symptoms over time due to inadequate initial treatment and a subsequent exacerbation of head pain due to rebound symptoms.

To limit the overuse of analgesic medication a thorough headache diary or log should be kept and all medication used needs to be documented. The best treatment is to prevent the overuse of medication before it happens. If your child or teen is already taking too much medication then education and a careful withdrawal of medication is necessary with medication changes as needed.

Providing correct information to parents is essential as is psychological support for both parents and the child. Transitional therapy may be necessary to help relieve symptoms and the use of prophylactic medication if the headache description suggests an underlying primary headache disorder such as childhood migraine.  Care must be taken to make sure there are no associated psychiatric or substance use disorders including anxiety and depression.

When you understand medication can worsen head pain you and your child will be better able to understand why the medication needs to be stopped as soon as possible and a new treatment plan initiated. Throughout this changeover it is important to monitor your child’s response and monitor progress in terms of pain and other associated symptoms.

Patient education before overuse becomes a problem is the best policy. If medication is being used beyond routine analgesics then inpatient monitoring may be necessary in order to manage symptoms and head pain recurrence.  For medication such as ibuprofen the use of a tapering dose of long acting non-steroidal anti-inflammatory drug (NSAID) can be helpful along with initiation of a preventive medication. Specific bridge or transitional medications will depend on the type of headache and the type of overused medication.

Understanding Executive Function

When someone talks about executive function skills they are describing a wide range of cognitive abilities that include both planning and plan execution;  selective, shifting and sustained attention; appropriately sequenced task completion and the inhibition of competing inappropriate responses. These skills are often described as being frontal lobe in origin and related to the cognitive deficits seen if someone experiences an injury to the frontal lobes of the brain. These are common injuries due to the high risk of injury to the frontal lobes when a physical injury causes twisting and shearing of fibers within the brain. Many of these symptoms are the same symptoms described in a post-concussive brain injury.  An understanding of the problems associated with such an injury is vital to appropriate rehabilitation.

Common problems include difficulty with insight and problem discrimination, project planning and realistic expectation setting and all the components of attention. It is clear difficulties with one or all of these issues would hinder cognitive rehabilitation including the ability to identify and respond to social cues while initiating and maintaining relationships.

A return of function does not mean a restoration of past skills or expectations. It means the identification and realization of skills that allow those with executive function disturbances to achieve chosen goals for healthy and successful daily functioning.  The focus is on the development of compensatory strategies and accommodations to provide the mechanisms for success in home, work and school environments.

The training of working memory which is the term used to describe our ability to mentally manage and update information is the foundation for executive function rehabilitation and improvement.  The use of computerized adaptive programs has shown clear benefits and enhanced performance in children diagnosed as having ADHD. Other potential intervention options include educational approaches that focus on a staged, step by step approach which slows down problem solving and decision making into component parts to encourage thoughtful information assessment. Other training techniques include training that includes dual task completion and the use of reasoning skills to extract essential decision making details.

Difficulty with social awareness and an understanding of the thoughts, words, needs and actions of others are common executive function deficits. In our daily lives we need to decode the social intentions of others.  An inability to do so can lead to poor decision making and social disasters. The use of the same techniques discussed above can lead to improvement in social decision making and an awareness of the emotional intents of others. An understanding of contextual emotions is vital for the understanding that provides a bridge for the development of relationships.

As a final note, those with executive function disturbances must be aware of the increased risk of error when fatigue, time pressure and distraction are in play. The need to incorporate an awareness of these stressors into one’s choice of a decision making environment must also be both taught and learned.  Such an understanding allows a child or adult to develop intention and action plans that are both reasonable in expectation and outcome.

Terminology of Autism Spectrum Disorders (ASDs)

For many years when people spoke about autism they talked about a group of disorders called Pervasive Developmental Disorders.  This category of disorders included Autism, Asperger Syndrome, Childhood Disintegrative Disorder, Rett Syndrome and Pervasive Developmental Disorders (Not Otherwise Specified). These are the categories discussed in the Diagnostic Statistical Manual of Mental Disorders,  Fourth Edition (Text Revision) DSM-IV-TR.  This manual is presently being rewritten and a Fifth Edition is to be published in the near future. Categories and names are certain to change, but, the underlying disorders will not. A new emphasis on the spectrum of presentation will likely be the focus. Underlying disorders that have autistic like features will be excluded and a new attention will be placed on children with social communication disorders.

The purpose of any diagnostic categorization is to facilitate treatment and understanding. Those writing and formulating the new edition are pursuing this goal.  The intent is to allow each child with a spectrum disorder to be better understood and enhance our understanding of their developmental trajectory.

No matter what the new categories are underlying patterns seen in children with autism spectrum disorders (ASDs) will not change. These patterns fall into three basic categories. The first concerns social reciprocity and their ability to recognize, perceive and decipher the intent, purpose and meaning of others. The second issue concerns central coherence. Children with ASDs frequently are overfocused and fixated on various patterns of behaviors or responses. They lack the volume of qualitative responses that most children express when they are put in a new situation. They tend to see the “forest and not the trees”.  They often miss the “big picture” and have difficulty with concept generalization where they are unable to abstract their responses from one situation to another. the third and final area concerns executive function and a pattern of special interests, behaviors or activities. Many issues including auditory processing difficulty and unmodulated or over modulated selective, shifting and sustained attention abnormalities are seen.

Children with ASDs are no different than any other child. Certainly, our challenge to understand and respond to their feelings, thoughts words and actions is much higher; but, with new understanding generated by recent neuroscience and genomic discoveries we are continuing to open the door to the best treatments of children with ASDs. As a parent or someone who knows or loves a child with an ASD the future is resoundingly bright as the drapes that previously obscured our view and understanding are released and collapse to the floor.

The First Signs

Many new parents ask what are the first signs to look for to determine if their
child could have an Autism Spectrum Disorder (ASD)?  There is no one answer to
this question since presentations vary.  A close relationship with your
pediatrician and participation in appropriate developmental surveillance are the
most important ways to assure an early diagnosis is made. You and your
pediatrician are in the perfect vantage point to collaborate in the early
diagnosis. There have been numerous published reports about the early signs of
autism. The key is for both of you to take the time to look for the signs of
autism, know what these signs are and have a strategy to systematically evaluate
the developmental trajectory of your child. This, however, is the easy part. The
hard part is being aware of available regional community, educational and
medical resources and then collaborating with your pediatrician to pursue and
obtaining the services you and your child require.

Key signs relate to atypical language development and social deficits that include delayed or absent joint attention (JA). These children appear to lack connectedness. They are often content being alone and show decreased eye contact. They initiate and
maintain social contact with gestures, vocalization and eye contact less than
expected for age and have difficulty sharing emotional contact with others in
play or group activities. Joint attention delays are frequently seen in infants
less than one year of age who do not show enjoyment from looking back and forth
in a sharing fashion between a person and a joint object of interest. By age one
year most children with prompts will look in the direction that their parent
points and will then look back to the parent with a shared expression. By 15
months most children will point to request a desired object and soon thereafter
will point to share a joint object of interest. While pointing the child will
look back and forth between the object of interest and the parent showing a
shared social experience. This sharing is often absent in children with ASD. The
absence of joint attention effects language development and the “showing” of
positive affect  and social connectedness.

Orienting to one’s name being called is often deficient in children with ASDs as well as children with decreased hearing. Hearing assessment is essential in any child felt to have an ASD. As a child with ASD enters the preschool years he is less likely to develop age appropriate peer interactions and any shared interests usually center on a
limited set of interests that revolve about his own special interests. They
often have difficulty understanding the perspective of others and  difficulty
understanding the context of situations and events. This inability to understand
the big picture makes social interactions difficult. The ability to recognize
the mental state of others by late preschool years is also lacking and leads to
difficulty with empathy, sharing and comforting.

Helpful Facts About ASDs

Parents all ask how common are Autism Spectrum Disorders (ASDs) and why are they
being diagnosed so often. Frequency information about prevalence is difficult to
discuss due to changing criteria and diagnostic categories. The most recent
numbers from the Center for Disease Control states a prevalence of 1:140 for
girls and 1/70 for boys. Prevalence rates have increased as subthreshold
criteria for inclusion have been promoted. The inclusion of milder cases has
been criticized for being too inclusive and leading to over diagnosis. Although
this is clearly important, there are other numerous factors including general
public awareness and diagnostic substitution where a child with a prior
diagnosis is rediagnosed as having an ASD.

The term idiopathic ASD is used for children who meet criteria for an ASD but do not have an associated medical condition known to cause ASD’s. The term secondary ASD refers to cases with an identifiable syndrome or medical disorder. Some of these conditions include the following: Fragile X syndrome, Neurocutaneous disorders,
Phenylketonuria (PKU), Fetal alcohol syndrome, Angelman syndrome and Rett

ASDs are biologically based and highly heritable. It has been very difficult to determine causation due to genetic complexity and the large variability of presentation. It is likely that multiple genes are involved and it is unclear whether other genetic and environmental influences play a role. Such environmental factors may represent an intrauterine stressor that effects fetal brain development.

Numerous factors have been determined that effect prevalence. these include a prior sib having been diagnosed as having an ASD and advanced parental age. It is clear the etiology is multifactorial with a variety of genetic and environmental factors playing a role.

ASDs are much more common in boys than girls. Male to female ratios ranging from 2:1 to 6:1 have been cited. The ratios are even higher if only cases of high
functioning autism and Asperger Syndrome are included. The reason for this male
predominance is not known.

The risk of postnatal factors including immunizations have been the focus of many public discussions. Studies have consistently supported the lack of association between thimerosal containing vaccines and ASDs. Yet, due to publicity and fear many parents continue to feel their child’s ASD was caused by vaccine exposure and many parents continue to avoid and refuse vaccines due to fear of their child developing an ASD.

Brain changes found in those with autism suggest pathology arising
during the pregnancy. Studies have also shown brain volume changes as well as
brain structure variability.  Functional MRI studies suggest processing
differences including differences in gaze fixation, facial recognition and
variable deficits in imitation, empathy and language.

Communication Patterns

Speech delay is often the presenting complaint for children who are diagnosed as
having an autism spectrum disorder (ASD). Babbling may be late in developing as
are pre-speech gestures including waving, pointing and showing.

The lack of a desire to communicate and the lack of non-verbal communication strategies including gestures usually accompany the speech delay. These children frequently do not show frustration due to their speech delay. In addition, the quality of
speech may be concrete, rigid and even scripted. They may memorize dialog from
movies or television shows and the repetition of another’s words, called
echolalia, is often seen.

Children with ASDs may appear independent due to their lack of communication interest. They often seek out an object of interest rather than using language to acquire the object. Some children may also show advanced skills in specific language areas including the labeling of colors, shapes, numbers and even letters of the alphabet. Associated with this advanced skill is a relative lack of the incorporation of these same skills into functional language.

Some children with ASDs may also use pop up words that are said without a clear provocation. They may be said frequently for a period of time and then stop as suddenly as they started only to return in the future. They are said out of context and often occur during stressful situations.

Children with ASDs often lack warm expressions during communication  and lack an alternating communication pattern that is usually seen between mother and child by 6 months of age. Infants with ASDs will often vocalize without regard to a parents gaze or speech and may not preferentially recognize a parent’s voice. They often disregard vocalizations but appear to be extremely aware of environmental sounds that other children miss. Other patterns include a lack of expressive language and deficits in higher level semantic and pragmatic language skills that indicate a social use of language. Children with ASDs may have difficulty differentiating between the various ways specific phrases can be said to indicate different emotional meanings.

Regression is a common language pattern Children with ASDs often say a few words and then stop speaking. This is often seen between 18 and 24 months of age.  This
communication regression also may include a loss of gestural communication
including pointing and waving and  social skills such as eye contact and
response to praise. This regression may be sudden or gradual and may be confused
with other environmental or developmental factors. The presence of language
regression is a key hallmark of ASDs.

Children with Asperger Syndrome may have limited or minimal speech delay. This makes  diagnosis difficult and often delays the diagnosis. Although the quantity of speech may be near normal the quality is abnormal.  They may show an interest in discussing specific topics of personal interest yet have difficulty expressing simple feelings or recognizing the feelings and viewpoints of others. Speech patterns may be overly formal and lack a reciprocal quality. Conversations are difficult to sustain and the
language often is odd, self centered, off topic and monotone. Unique patterns of
speech  in terms of intonation, volume, rhythm and pitch are often heard. While
communicating there is often a disregard for personal space and a disregard for
the listeners needs.

A discussion of the feelings, thoughts, words and opinions of others is also deficient. An inability to determine and measure the conversational intent of others is universal.  Words and phrases of ambiguous meaning are difficult to understand. this makes the understanding of humor, idioms, jokes and irony difficult.

Children with ASD show various trajectories for the above communication deficits. As a child with an ASD ages he may acquire communication skills that were lacking in his youth. Every child and adult with an ASD is unique and may show all or some of the above patterns.

Play in Children with Autism Spectrum Disorders

Children with Autism Spectrum Disorders (ASDs) have delayed pretend play skills.
They also have two unique patterns of play. These are called sensory-motor and
ritualistic play. sensory-motor play involves a combination of sensory and motor
based activities. Examples include mouthing or twirling objects, tapping or
banging objects or manipulating and touching objects in repetitive,
ritualistic and stereotypical fashions. Children with more severe forms of ASDs
who are nonverbal may have more of these patterns and behaviors then children
who are high functioning (HF).

The overall play pattern of children with ASDs is repetitive and lacks the creativity and imagination seen in age appropriate play. Children with ASDs often line up toys, cars or other characters and recognize and become upset if the objects are moved. They may
stack blocks in a sorted fashion by shape or color and may look at the
constructions from various angles including out of the corner of their eyes.
Often they are fascinated and fixated by movement patterns including the
spinning of wheels or fans. They may repetitively open and close doors or
cabinets and become upset if a door is left ajar. Rather than coloring with
pencils or crayons they may repetitively line them up or spin and flick them
back and forth.

Children with ASDs often prefer to play with common objects they find around the house rather than age appropriate toys and are able to spend expended periods playing with simple objects their age peers are bored with. Their play can be described as constructive involving blocks, computer games or puzzles or ritualistic where objects are sorted, matched or lined up. They often mix either of the above play patterns with sensory-motor play consisting of spinning, flicking, mouthing or banging a hand held object while performing another play activity. Their motor skill to accomplish this dual play is often quite amazing. While playing they often interrupt play to jump, run or
spin while making repetitive vocalizations. Games of chase or roughhousing
including wrestling or playing lap games are often preferred but the social
aspects of these activities are of less importance and interest. The body
movement during these activities appears to be the fascination as are other
sensory-motor aspects of play.

Visual play includes watching certain videos, video games or television shows over and over and often reveals a high skill level when completing puzzles or mastering video game levels. Certain topics are common aspects of fascination. These include trains, trucks and shape matching puzzles. Water and water play are often a fascination. Parents often report an advanced visual memory for car directions and recognition of any changes in the house layout including furniture or toys being reorganized.

The above play activities can persist for extended periods or change suddenly and be replaced by new patterns. Past patterns can suddenly return only to be lost again. Group activities where cooperation and the following of group rules are required are of little interest. Play activities where change is integral to the activity are confusing and often cause unease and discomfort. Frequently children with ASDs separate themselves from others and wander or elope to a more comfortable location. Children with high functioning ASDs of the Asperger Syndrome type may become frustrated by this inability to integrate with others during play and are at risk for being bullied
or victimized by peers.  High functioning children with autism generally show
minimal unease about this separation and are not concerned or frustrated with
being ignored.