Medical Testing

Numerous medical tests and evaluations can be performed on a child with abnormal
development patterns. As the parent you must ask the right questions in order to determine which tests are necessary. Most of the tests are performed to look for a cause of the developmental delay or atypical developmental patterns. Other reasons include excluding treatable conditions and identifying associated so called co morbid conditions. Rarely are tests needed to provide baseline information before treatment is initiated. It is important, however, for all necessary medical evaluations to be performed. Never assume a medical condition is simply due to the ASD.

Less than 10% of children diagnosed as having an ASD have an identifiable cause such as Fragile X Syndrome, tuberous sclerosis, metabolic disorders or Rett Disorder. Testing for these disorders should be based on history and clinical exam. Special attention should be given to the neurological exam and any dysmorphic physical features. There is no evidence children with ASDs have a primary immune disorder.

Neuroimaging studies and extensive metabolic testing are rarely required. Generally, motor or vocal tics, stereotypies (hand flapping) and clumsiness do not need specific
testing. By observation vision and hearing problems are difficult to recognize and actual vision and hearing testing are often difficult to perform in a child with an ASD. Consequently, this testing should always be considered and be performed by a professional familiar and comfortable testing children with an ASD diagnosis.

Children with autism spectrum disorders (ASDs) and children with learning disabilities have higher rates of epilepsy, vision impairment and hearing impairment than other children. If your child has regression of language after age 3 years an EEG is needed to assess for seizure activity being the cause of language regression. If there are episodes of staring off and your child does not respond to your voice or touch then an EEG will be considered. It is important to determine whether your child is avoiding eye contact and over focused on some stimuli in the environment. If that is the case then an EEG is not needed.

Children with ASDs have increased rates of mental health problems including attention, depression and anxiety. Psychiatry or psychology evaluations are needed if the complaints are causing social, emotional, educational or physical dysfunction.

Other common medical issues include unrecognized esophageal reflux (GER), sleep
disturbances and constipation. Although there is a prominent history of selective food intake there is not an associated allergy or food sensitivity risk. Sleep issues can be extremely disruptive to families, siblings and parents. Issues with falling asleep (sleep latency) and staying asleep (interval waking) must be carefully addressed. Melatonin or clonidine are often very helpful when combined with sleep cuing and behavioral strategies.

The key is for you to collaborate with your pediatrician and developmental specialist to
obtain a detailed historical assessment and look for any associated co-morbid problems. Testing should never be performed in a rote fashion. Every child is different.

Prognosis and Adult Transition

The ability to have reciprocal language interaction with others involving both receptive and expressive skills and an interest in social interaction are the prime indicators for long term successful outcome. Children with minimal learning and achievement issues have the best outcomes in terms of success in school and transitioning into adulthood. High IQ and language skills suggest future success as adults in terms of communication and social competency. These two skills are fundamental to finding the right jobs and appropriate loving relationships. as a parent, your greatest fear is that you will not always be around to care for your child. By looking at and preparing for the future your child will be ready to assume self care. Certainly some children and adults with ASDs require more support than others. Yet, the same strategies are needed for both.

The ability to initiate and maintain relationships is fundamental to long term success and overall happiness. Children who desire social contact yet are unable to do so tend to have long term social and emotional issues in the home and in the workplace. They tend to become frustrated, anxious and loose interest in making attachments to others.

Maladaptive behaviors that cause social and behavioral stress are also associated with less successful outcomes. If the child to adult transition is made more difficult by acting out or self injurious behaviors then compliance and job performance will be hindered and opportunities for employment will be limited.

The key is to identify and leverage skill sets and interests into  job opportunities. Look for skills and interests  even at young ages that will allow your child to find a job and allow successful transition into the adulthood. The right job placement will provide them the satisfaction and ability to pursue and hopefully achieve responsibility for their own care. Read the Wall Street Journal every week and scrapbook any information about job opportunities. Network with friends, neighbors, associates and coworkers. Ask them for job opportunity ideas and seek an entrepreneurial opportunity where you could start a business your child would be able to thrive in. Find out what inspires your child. What is he passionate about? His greatest chance for success is finding and performing a job that provides him social and financial opportunity as well as emotional support and satisfaction. This will make the transition to adulthood exciting, rewarding and less fearful for both of you.

Social Skills in ASDs

The development of social skills begins before age one year when social orienting begins. When your newborn looks at you and makes eye contact and smiles in an interactive fashion she is orienting to you. From birth to age one she awakens to her own thoughts and desires and makes the statement “I am.” From age one to three she realizes her actions bring about change. She realizes “she can” change the world. When a child under age one looks at an object and then back at her mother and then back at the object she is asking her mother to look at the object. This is joint attention. Joint attention is one of the hallmarks that predicts social language development. As a child progresses into pre-school, school age and young adult years social language development accelerates. Imitation is followed by the ability to regulate social interaction. The ability to have negative as well as positive affect on others is recognized, as is the power of expressions and the use of gestures. Social skills progress and the ability to play becomes part of her social skills.  Her play is flexible, appropriate and has a variety of action and expression. Children with ASDs are limited in this social skill progression.

For all children you can increase joint attention and social reciprocity by integrating activities into your daytime schedule that require these skills. In this way the teaching of these skills will become part of your daily routine. The foundation skills are the abilities to give, take and share. These turn taking skills are the hallmarks of cooperative play and social awareness.

The desire and ability to take turns in individual and then group settings is taken for granted. Children with ASDs have difficulty performing reciprocal interactions and this hinders their turn taking skills. Although there are some similarities between shy children who are often along the sidelines during activities there is much that is dissimilar. Shy children due to lack of practice and general disinterest may lag in social skills but generally they know how to initiate and maintain contact with others. Shyness causes children to make a decision not to pursue contact due to emotional hesitation and fear. Children with ASDs, on the other hand, are not aware of the social skills necessary and often are inept and not interest in pursuing them not out of emotional hesitancy but rather due to a lack of social awareness, knowledge and interest. In addition, children with ASDs are often placed in social situations where others make them feel uncomfortable. This may be a planned discomfort as is seen with bullying behavior or undirected discomfort when they interact with someone unaware of their developmental disorder who responds in a negative fashion. These experiences condition the child with ASD to be wary and disinterested in social interaction and social skill development lags further behind. This is why during social skill training direct attention must be given to your child and any secondary negative emotional responses must be addressed and resolved. Choose a social skill curriculum that is supported by your child’s learning style and interests. Most children with ASDs are better at visual learning than auditory learning. Try to use lessons that have a visual component such as cartooning or the use of inanimate objects to provide prompts on body positioning and orienting.  Visual cuing, modeling, scripts, games, social stories, and any peer mediated leisure or play experience that requires shared interest and attention are very useful.

School sponsored social groups integrated into the school day and private social skill groups are helpful in providing controlled and naturalistic environments to learn skills that will be needed for future spontaneous experiences. As always, success is found in practice. Rarely will skills suddenly appear. Hard work and the effort of all who are involved with the care of your child are needed if success is to be found.


Medication Interventions

Medication is prescribed for specific symptom management. Baseline symptom data collection is necessary before medication is started and targets need to be chosen so potential benefits can be documented. The use of medication in a child or young adult with an ASD is done in conjunction with social, environmental and educational accommodations as well as behavioral strategies. This combined approach is essential for the best outcome. Although medications have been used with variable success for many years there are no long term controlled studies involving large numbers of children. The decision to begin, stop or continue medication is is made during a collaboration between parents and the specialist prescribing the medication. Emphasis is given to associated medical conditions or mental health disturbances that also require medication.

The collaborative process to decide on medication is based on an assessment of the risks and benefits. The opinion and preferences of caregivers in both home , out of home and school settings must be considered but the final decision is always from the parents. Environmental accommodations that could increase or complement medication success should also be pursued.

Every medication has potential side effects.These must be discussed openly and monitoring options must be identified and agreed upon. Duration of therapy, dosage and treatment schedules must also be determined. At all times the focus must be on how success or failure will be measured and what the trial period will be. Doctors with appropriate training and experience in the use of medication in ASDs should lead this process.

The most common prescribed medication is a methyphenidate preparation. These include ritalin, Concerta, Metadate CD, Daytrana, and Focalin. These product have different durations and peak level profiles and some must be swallowed without chewing. These medication reduce motor restlessness and hyperactivity and increase attention. Another stimulant medication called Adderal is also used but information on response is less extensive and there is some experts believe there is a higher rate of side effects including irritability, mood lability and sleep disturbance. A test dose should always be used and toleration monitored in terms of side effects. Children with ASDs are more prone to the above described side effects then children with ADHD who are treated with stimulant medication.

Risperidol (Risperidone) is another commonly prescribed medication. Benefits include a decrease in irritability, aggression and self injurious behaviors. It can be especially beneficial for children with severe tantrums or self injurious behaviors (SIB). Repetitive behaviors including stereotyped behaviors(stereotypies) are also frequently reduced. It does not increase appropriate social behaviors but it does often decrease inappropriate social behaviors and provides the opportunity for traditional behavioral strategies to substitute a new appropriate behavior. The most common side effects are tiredness, increased appetite and weight gain. There appear to be no significant liver effects.

Melatonin is often used to improve sleep pattern in children with ASDs by decreasing sleep latency (SL). It is well tolerated and is given 1 hour before bedtime. It comes in a rapid dissolving pill form and can be purchased without a prescription. Baseline sleep data in terms of when your child is placed in bed, when they fall asleep and when they wake during the night or in the morning should be obtained prior to beginning the medication. Behavioral strategies and sleep cuing techniques should always be used first before medication is tried or in conjunction with the medication depending on the severity of the sleep disturbance.

Serotonin re: uptake inhibitor medications have also been used if symptoms of anxiety, mood or other repetitive patterns including obsessive-compulsive symptoms warranted their trial. In these situations an associated mental health problem (co morbid) is being treated. As a parent be cautious about observational reports of benefits from medication. Strong evidence based research is often limited for the use of medications in ASDs.

Diets and Nutritional Support

Parents of children with ASDs often hear about the benefits many parents have
discovered when their child is placed on a nutritional intervention such as
casein, whey and gluten exclusion diets. Observational reports include a
decrease in negative behaviors, improved language skills, improved attention
or a decrease in repetitive or self injurious behaviors.

Such nutritional interventions can be difficult for a family to pursue. Parents with ASD children are busier and more financially stressed then families without ASD children.
Consequently, such interventions should be considered carefully. Nutritional and
biomedical interventions have not been proven to significantly improve outcome
in children with ASDs. There is extensive observational information from many
parents and professionals who deal with children with ASDs to support their use.
Numerous books have been written and interviews have been given. Strong
methadological studies, however, have not proven the benefits. The key is to
make an informed decision and choose your targeted behavior carefully. The risk
of a placebo effect must always be considered and if the risk is minimal there
is no reason a trial cannot be pursued if response is carefully documented.

Gastrointestinal problems or issues related to children with ASDs having extreme food selectivity should be dealt with as they would for a child without an ASD. Vitamin, mineral, caloric and protein supplementation must be pursued if there is inadequate recommended intake for age or if your child is not meeting expected growth parameters.

Autism Spectrum Disorders (ASDs) Statistics

The latest statistics concerning the prevalence of autism spectrum disorders (ASDs) in the United States has just been published on March 30, 2012. It covers the period of 2008 and children aged 8 years were studied. The diagnosis of an ASD was made by studying information obtained from children’s evaluation records anytime from birth until age when the child turns 8 years. A child was included in the statistics as having an ASD if they displayed behaviors consistent with the DSM-IV-TR criteria for the following conditions: Autistic Disorder; Pervasive Developmental Disorder-Not Otherwise Specified (PDD(NOS)); or Asperger Disorder.

Before discussing the ASD statistics it is important to review just how common developmental disabilities are for children. The simple fact is developmental disabilities in children are very common.

The journal Pediatrics in 2011 published data on the prevalence of developmental disabilities for children living in the United States for the years 1997 to 2008. Overall, 1 in 6 children had a developmental disability. Children aged 3 to 17 years were included and the information was based on parent reports of diagnosis including attention deficit hyperactivity disorder; intellectual disability; cerebral palsy; autism; seizures; stuttering or stammering; moderate to profound hearing loss; blindness; learning disorder; and/or other developmental delays. Boys had a higher prevalence overall then girls. Children from low income households and those with public health insurance also had a higher prevalence of disabilities. The overall prevalence for boys and girls increased from 12.8% to 15% over the 12 years.

ASD Statistics:

  • 1 in 88 children are identified as having an autism spectrum disorder (ASD) and ASDs occur in all racial, ethnic and socioeconomic groups. The previous Center for Disease Control (CDC) estimate was 1 in 110 children.
  • 1 in 75 children in Pennsylvania have an ASD. In Utah 1 in 47 and in Alabama 1 in 210. The diagnosis of ASD is more likely when educational records are available and the
  • ASDs are 5 times more common in boys (1 in 54) than girls (1 in 252) and are present throughout the world with an average prevalence of 1 in 100 (1%). There have been reports from South Korea of  an average prevalence of 1 in 38 (2.6%).
  • ASD prevalence is highest among non-Hispanic white children compared with other racial/ethnic groups.
  • For identical twins if one child has an ASD there is a 36-95% chance of the other child having an ASD. For a fraternal twin the risk is 0-31%.
  • Parents who have a child with an ASD have a 2-18% chance of having another child who is also effected.
  • The majority of children identified as having an ASD do not have an intellectual disability.
  • Children born to older parents are at higher risk for ASDs.
  • A small percentage of children born prematurely or with low birth weight are at greater risk for having an ASD.
  • 83% of all children with an ASD have an associated developmental, psychiatric, neurologic, chromosomal or genetic diagnosis.
  • The diagnosis of ASDs under the age of 2 years is reliable.
  • 18% of all children diagnosed as having an ASD are diagnosed by the age of 3 years.
  • Most children are not diagnosed as having an ASD until after age 4 years.
  • Parents of children who are diagnosed as having an ASD notice a developmental problem before the age of 1 year.
  • Medical expenses for a child with autism are 4-6 times greater than those without an ASD.
  • Children with an ASD have medical expenditures $4,000 to $6,000 per year greater than for children without an ASD.
  • Intensive behavioral interventions cost $40,000 to $60,000 per year for a child with an ASD.
  • The medicaid cost for a child with an ASD was six times higher per year than for a child without an ASD (Average cost $10,709).

ASD Trajectories

Recent statistics have confirmed more children are being diagnosed as having an
autism spectrum disorder (ASD). The most recent prevalence estimates for children is 1 per 110 children aged 8 years. This has raised the visibility of ASDs for parents and the public in general. Due to this increased awareness many new questions are being asked. The biggest question concerns outcome. Parents and the general public want to know what are the developmental expectations for a child diagnosed with an ASD. This is a difficult question to answer due to the almost certain multiple causes of autism and the variability of presentation. In addition, the roles of genetic predisposition and environmental factors support the complexity of causation and presentation. Although information concerning developmental trajectory and prognostic forecasting is limited, there are certain patterns parents should be aware of.

A child’s development over time can be analyzed in terms of a series of time related skills. Following the patterns of skill acquisition allows a learning trajectory to be determined. When this is done for children with ASDs there is no single expected learning trajectory.  A range of trajectories has recently been reported for the major
symptom issues of communication, social skills and repetitive behaviors (Pediatrics, April 2,2012).

The patterns fell into various categories. The categories ranged from low to high functioning (HF). In general from birth through age 14 years patterns of functioning improved most for children who were high functioning and less for those who were low functioning. Children with high functioning scores tend to improve most over time.  Repetitive behaviors remained flat for all the ranges except for a small set of children (7%) who showed a decrease in functioning and another small set (8%) who showed improvement. There was a subset of children, however, called “bloomers.” Bloomers initially resemble low functioning children with ASD but over time they change and resemble high functioning children with ASD. The percentage of children in the sample staudied ranged from 7.5-10.7%.

This information is important for parents. Although studies spanning extended life periods are limited many clinicians have recognized a small percentage of children who initially begin in the low functioning range do, in fact, substatially improve and perform in the high functioning range by mid adolesence. Children who do bloom are those without intellectual disablity and those with more educated, non-minority mothers. The factors that relate to this are unknown. Possible causes include positive environmental diversity and the quality and quantity of interventions.

As a parent what can you learn from this? Although these findings need to be confirmed by future data reviews and modeling the information does support the diversity of ASD
presentation; the general improvement in communication and social skills over
time; the relative lack of change in repetitive behaviors  over time with the
exception of one group that improved and 1 group that worsened;  and the
presence of a group of children (“bloomers”0 diagnosed as having an ASD who
initially are in the low functioning category and dramatically improved to the high functioning level as they aged to age 14 years.

This study provides helpful prognostic advice to set and understand expectations for a child with an ASD.

Costs Associated with ASDs

A recent report in the journal Pediatrics published in April 2012
documents the significant economic burden families of children with autism
spectrum disorders (ASDs) face. The statistics do have some limitations but the
findings support what parents and professionals have been saying for a long
time. The care of children with ASDs is not only demanding but also expensive.
Time, money and resources are spent on medical and educational therapies. The
cost of these services is demanding both for the community and the family. The
recent rise in the prevalence statistics to 1 in 110 children in the United
States have and ASD has increased the awareness of this disorder and the overall
cost of caring for a child with an ASD. The need for parents of a child with an
ASD to wear many hats in terms of caregiving is a compounding issue. Parents
must be a caregiver, case manager,  therapist, behavior specialist, advocate,
transporter and an educator. These jobs never end.

In the past health care costs were the focus for children with an ASD. The focus today is now shifting to the overall costs to the community and to the family. Specifically,
the burden to the family in terms of economic costs is now being identified.
Children with an ASD require intensive specialized services. These services may
not be covered by traditional insurance and must be obtained at certain times
and in certain locations. These requirements often hinder a parent’s ability to
maintain paid or full time employment. This has direct family effects and
secondary workforce participation effects. Parents of children with an ASD are
less likely to be employed or work full time due to their care taking obligations and the scarcity of appropriate community based resources to help them deal with the emotional and behavioral issues that children with an ASD frequently have. Balancing of work with their child’s needs is difficult and often impossible.  The result is a reduction in work hours or unemployment. This cost is in additional to the direct service costs.

The mother is generally the the primary caregiver for a child with an ASD and consequently her labor market impact is the greatest. Mothers are less likely to work, work fewer hours per week, and earn substantially less than mothers of children with no
health limitations. Mothers of children with no health problems work an average
of 7 hours more per week than mothers of children with an ASD. There was no
significant difference for fathers. On average families of children with no health limitation work an average of 5 hours more per week. Mothers of children with ASDs earned almost $6,000 less per year  than mothers of children with no health limitation and families with no health limitation earned over $17,000 per year more than families with a child with an ASD.

In summary mothers of children with an ASD earned 56% less than mothers of a child with no health limitation. They are 6% less likely to be employed and  work an average of 7 hours less per week than mothers of children with no health limitation. Children
with ASDs are 9% less likely to have both parents working and family earnings are 28% less then those of children with no health limitation.

8 Item Classifier

The diagnosis of a child with an autism spectrum disorder (ASD) is time and
labor intensive and it’s availability is geographically limited. Extensive
parent reports, diagnostic interviews and professional observations are most
commonly used for diagnostic decision making. The Autism Diagnostic Observation
Schedule (ADOS) is a commonly used tool. It is an extensive evaluation and
measures social interaction, communication, play and the imaginative use of
materials. This is done through a variety of structured activities. There are
four modules and each module is directed towards a specific group of individuals
based on their language and developmental level. The first module is directed
to younger children with little or no language. The evaluation is highly
structured, time consuming, labor intensive and must be performed by a
professional trained in the administration of the instrument. Due to these
issues the test is limited to clinical and developmental centers and there are
frequent extended waiting lists for the testing to be performed.

A recent study published online April 10 in the Journal Translational Psychiatry has
abbreviated the assessment to include only 8 of the 29 items from module 1.
Using these 8 items the accuracy of diagnosis was >99% accurate (99.7%
sensitivity and 94% specificity). The advantage to such an approach is to allow
a more rapid accurate diagnosis of the young child with an ASD. The benefits of
more rapid and more easily available early screening would be earlier initiation
of intervention for the child and the family. A facebook page has been launched
by the writers of  this article to allow the survey information to be available
to more parents.

The activities used in the observation of a child include the following:

Free Play:  A child is allowed to explore a room and toys. The way the child interacts with or plays with the toys is noted as is the way the child interacts with the parent and the examiner.

Bubble Play: The child’s affect, social initiations, shared enjoyment, requesting
behaviors and motor behaviors and mannerisms are observed while the examiner
blows bubbles.

Anticipation of a Routine With Objects: The child’s affect, initiation of joint attention, shared enjoyment, requesting and motor behavior are observed during a structured routine blowing up a balloon and releasing it.

Responsive Social Smile: The child’s smile is observed for quality and consistency in response to the examiner smiling, the parent smiling, the parent smiling and making a familiar noise or calling in a way that implies physical contact and in being touched.

Anticipation of a Social Routine: The child’s affect and attempts to initiate the repetition of a routine during a peek-a-boo or tickling game are observed in terms of the quality of the child’s behaviors and the child’s ability to integrate gaze, facial expression,
vocalization and gesture as directed to the parent and examiner.

Functional and Symbolic Play: The child’s use of miniature or
representative objects in imitation of familiar actions is performed and the
child’s social awareness and shared enjoyment are recorded.

Birthday Party: The child’s interest and ability to join in a doll’s birthday party is
observed including whether the doll is treated as a a representation of a real
being, whether the child spontaneously participates and contributes to the party
and if involvement is limited, whether the child will imitate the examiner’s
actions or participate when asked or directed to do so.

Snack: A snack activity is used determine if and how the child requests or indicates a
preference for food. The child is observed for gaze, use of gesture, reaching,
facial expression and vocalization to communicate a request to the examiner.

Redefining Autism

There has been a great deal of talk recently in the media and between parents
and professionals about possible upcoming changes in the way autism spectrum
disorders (ASDs) are classified. the fear expressed by parents concerns whether
their child will no longer meet criteria for the diagnosis and consequently be
unable to receive necessary services. Much of this talk has arisen over the
public comments concerning the fifth edition of the Diagnostic and Statistical
Manual of Mental Disorders (DSM-5) that is due out by summer 2013.

The upcoming changes are based on new knowledge and understanding  about ASDs. As all parents of a child with an ASD know there have been major advances in areas
of brain research, genetics and the general understanding of child development
and child behavior. The aim is to use this information to make the field of ASD more understandable and to make the core concepts that identify a child as having an ASD clearer.

Numerous clinicians, professionals and advocates have been involved in this process and at the present time field studies are being conducted to test the proposed new diagnostic criteria. The concern is being raised that a more stringent diagnostic set of standards could alter the composition of children diagnosed with an autism spectrum. The aim is to have a set of criteria that does not exclude a child who has an ASD but does not include children who do not have an ASD.

The greatest fear of any parent is that their child will not meet service eligibility criteria and necessary and successful services will stop. An additional concern about the financial cost of care and services presently covered by medical assistance through the medical loophole program due the diagnosis of autism accentuates this fear and concern.

Although there have been some reports of children with high functioning autism spectrums who would be excluded from the “new diagnosis” information is still limited. Most of the children who failed to meet the proposed criteria failed because they did not meet the social communication criterion or the restricted or repetitive behavior criterion. Children in the previous categories of Asperger’s disorder and PDD (NOS) were at greatest risk for not meeting the proposed DSM-5 criteria. An extensive review is now underway to determine the statistical and real life service eligibility implications of
the proposed criteria changes.

As a parent you must not rush to judgement. The existing criteria are behind the times. They are inexact and lack a dimensional understanding of the autism spectrum diagnosis. Change is needed. The new criteria must not, however, exclude high functioning children and adults who do not have the behaviors that are typically seen in those children with ASDs who have a low IQ. These behaviors include: stereotyped or repetitive speech, motor movements or repetitive use of objects (sterotypies); excessive
adherence to routines, ritualized patterns of verbal or non-verbal behavior or excessive resistance to change; highly restricted, fixated interests; and increased or decreased reactivity to sensory input or unusual interest in sensory aspects of  the environment.

Those writing the new criteria understand the importance of autistic type social-communication impairments. It is these impairments that lead to the greatest social, emotional and educational problems encountered by individuals with ASDs as they age. The effects of these deficits on relationship building and the ability to find successful satisfying long term employment cannot be overstated. Due to the importance of these core deficits parents should be encouraged that their child who has deficits in these
areas and not other associated areas would still be able to maintain the diagnosis of ASD.

As with all matters, patience is the key. Those working on this endeavor are committed to  providing your child the best care possible. The public outcry has been heard. The criteria have not been finalized. New studies and reports will be presented as they become available. Please stay tuned.