Wednesday, September 16, 2015

Getting an Evaluation for Autism Spectrum Disorder

Deciding that your child might need an evaluation for Autism Spectrum Disorder (ASD) is usually the culmination of a 3 step process.

STEP 1: THERE IS A CONCERN. A parent, family member, caregiver, teacher, speech-language pathologist, therapist, or pediatrician may be concerned that a child shows signs of developmental difference or delay. Sometimes parents have filled out a screening questionnaire that indicates a concern. Maybe a therapist, teacher, or doctor talks to a parent, or a parent expresses a concern to a healthcare professional or directly to an education agency.  If an individual expresses a concern to you, it is a good idea to contact your child’s pediatrician. The pediatrician may want you to complete a screening questionnaire or may want to observe your child. If a screening questionnaire and/or brief observation indicates there might be risk of delay or developmental differences, a referral for an in-depth evaluation is made. Even if screening questionnaires are not used, referrals might be made if a concern is expressed.

Screening Tools:
  • M-CHAT – Modified Checklist for Autism in Toddlers
  • Infant Toddler Checklist
  • SRS-2 – Social Responsiveness Scale
  • SCQ – Social Communication Questionnaire
  • ASRS – Autism Spectrum Rating Scale
  • Ages and Stages (of Child Development)
  • Denver (Developmental Screening Test)
  • SORF – Systematic Observation of Red Flags
STEP 2: REFERRAL. Parents, healthcare professionals, or therapists contact someone who is qualified to do an evaluation of development to make an appointment for an evaluation. The referral might be made to an early intervention agency or school district, a developmental pediatrician, a psychologist, a psychiatrist, or possibly a pediatric neurologist. Additional referrals may also be made to other professionals, such as audiologists, speech-language pathologists, physical therapists, and/or occupational therapists to evaluate other areas of development. Evaluations through early intervention and school districts happen relatively quickly. Sometimes the wait for a developmental pediatrician can be much longer. Parents should pursue both kinds of evaluations – educational and medical – at the same time. This is because children must be evaluated through the education system in order to receive educational services, and educational services can begin without a medical diagnosis.

STEP 3: THE EVALUATION AND RECOMMENDATIONS. There are two core elements that are necessary: (1) parent interview to gather information about the child’s birth, medical, and developmental history; and (2) clinical observation of the child’s behavior – preferably using standardized measures. Based on the information provided by a parent, the observations of the child, and the examiner’s clinical judgment, a diagnosis, if any, will be provided, along with recommendations for intervention.

Parent interviews might be done on paper, in person, or over the phone. An evaluation might take place in a home, a healthcare clinic, a medical office, a school, an early intervention center, or in a psychologist’s office. There may be more than one evaluator, who will usually meet as a team to make a diagnosis and/or recommendations for services, if needed. In-person observations are primarily play-based and are made up of various activities geared toward a child’s developmental level. Evaluators play and talk with the child and ask him or her to do simple tasks as part of the evaluation. For very young children, parents typically stay with their child throughout the evaluation.

Many of the developmental tests follow a progression of skills and include some items that the child will not be able to do. It is important to remember that this is the way development levels are determined, and all children eventually encounter activities that they do not know how to do as they go through an evaluation. At the end of the evaluation, or perhaps a week or so later, the clinician or the team will meet with the parents to discuss diagnostic impressions and recommendations for interventions and services to help the child make developmental progress. A report will be given or mailed to the parents with the full results of the evaluation and written recommendations.

Signs of Autism Spectrum Disorder: What to Look for, What to Do

As a parent, you are in the best position to notice early signs of Autism Spectrum Disorder (ASD). However, many first time parents have a hard time knowing what to expect in terms of their child’s development. Even parents with more than one child may not recognize developmental delay as all children develop at different rates. 

Sometimes parents have a “gut” reaction that something is different about their child. Some children seem more fussy and disagreeable, even when in no apparent distress from hunger, tiredness, or evident discomfort. Parents of these children may be more likely to seek early help from their child’s pediatrician.
Other times, a child seems “easy,” making few demands of caregivers and not requiring a lot of attention. Some children with ASD appear more advanced than their peers, displaying amazing academic skills or attentiveness beyond their years. Yet what seems like independence or precociousness may be masking an underlying developmental problem.

Red Flags and Risk Factors for ASD
Knowing what to look for is important for early identification of ASD. Early identification is important because the earlier ASD or signs of ASD are noted, the sooner treatment can begin. High quality early intervention services can change a child’s developmental trajectory and can improve outcomes.
Some of the early signs of ASD include:

  • Does not respond to name
  • At times, appears to be deaf
  • Speaks with an unusual tone or rhythm
  • Repetitive motions, such as rocking, spinning, or hand flapping
  • Easily upset with change of routine
  • Walks on toes
  • Unusual attachments to objects or schedules
  • Doesn’t know how to play with toys
  • Doesn’t return a smile
  • Doesn’t respond to cuddling
  • Doesn’t reach out to be picked up
  • Doesn’t look at mom when being fed (infants)
  • Poor eye contact
  • Prefers to play alone or with adults
  • Lines up toys or other objects; ordering of materials
  • Does not speak
Additionally, regression of any kind is a serious warning signal for ASD. If your child has begun to use words, but then stops using language entirely, or if your child stops playing social games like Peek-a-boo, contact your child’s pediatrician. Any loss of speech, babbling, gestures, or social skills should be taken very seriously.

Some children are at a higher risk for developing ASD, and these children should be monitored closely. In particular, if another family member has ASD, your child may be more likely than others to have it too. Genetic and family research studies have shown that ASD is heritable, increasing the likelihood of other family members having a diagnosis. Much research attention has been given to younger siblings of children with ASD, who are 10 – 20% more likely to develop ASD than the general population. Additionally, children born with low birth weights and children with certain genetic conditions have a higher risk for ASD.
Having one or even a number of these symptoms or risk factors does not mean that your child will be diagnosed with ASD. It is important to remember that children develop at different rates. However, do take note of any warning signs and bring them to your pediatrician’s attention as soon as possible.

Visiting Your Pediatrician
When you visit your pediatrician (make a special appointment if you have concerns and a routine visit is not in the near future), come prepared with examples of behaviors which concern you. This is important because your child may not exhibit the same concerns during a short office visit. If your child is between 16 and 30 months of age, your pediatrician should ask you to complete a developmental questionnaire to determine if your child exhibits red flags for ASD or other developmental problems.

The questionnaire usually used to screen for ASD is called the Modified Checklist for Autism in Toddlers, Revised (M-CHAT). The M-CHAT is a screener only, designed to identify children whose symptoms put them at risk for an ASD diagnosis. Depending on your child’s score on the M-CHAT, your doctor may recommend that your child receive further testing to determine if he or she has ASD.

Diagnosing ASD
ASD can only be formally diagnosed by a trained clinician after conducting formal diagnostic tests. Most pediatricians do not have this expertise. To be evaluated for ASD, your child may visit a developmental pediatrician, psychiatrist, psychologist, or other trained and experienced professional.

Tools created for the purpose of diagnosing ASD, including the Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview, Revised (ADI-R), rely on observing the individual with suspected ASD in structured settings and asking caregivers about the individual’s history and behavior. A clinician may also suggest a neurological evaluation or genetic testing, metabolic testing, and electrophysiologic testing. There is no definitive medical test for a diagnosis. Instead, a medical diagnosis of ASD will be based on whether the individual meets the criteria set forth in the Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM-5).

What You Can Do

  • Monitor your child’s development. Children with ASD tend to hit key developmental milestones a bit later than other children. Make note of when your child rolls over, sits up, stands, talks, etc. so that you can share these important timeframes with your pediatrician. However, missing milestones doesn’t mean your child has ASD, nor does hitting them on target mean your child does not.
  • Talk to your child’s doctor if you have concerns. Your child’s doctor is there not only to help your child, but to support your family as well. Your child’s doctor can help you understand typical development and help you determine if your child is off-pace. Don’t wait for a routine appointment if you suspect a problem; visit your child’s doctor right away.
  • Don’t “wait and see.” Too many concerned parents are told not to worry and to “wait and see” if their child grows out of the behaviors in issue or a delay. However, waiting is the worst thing you can do because it deprives your child of valuable time when he or she could be getting help. Regardless of whether the delay is caused by ASD or some other factor, children with developmental delays don’t usually grow out of them without appropriate intervention.
  • Consider getting a second opinion. Ideally, your child’s doctor will take your concerns seriously. But sometimes, even well-meaning doctors miss red flags or underestimate problems. Follow your instincts if you feel that something is wrong, and be persistent. Schedule a follow-up appointment with your child’s doctor, seek a second opinion, or ask for a referral to a developmental pediatrician. You should also contact your local Early Intervention agency or school district and ask for an evaluation. Evaluations are provided free of charge by your local intermediate unit or school district and can identify if your child is in need of special education services. Your child does not need a diagnosis of ASD to qualify for these services, and you should proceed with a special education evaluation even if your child is waiting to be seen by a developmental pediatrician or other ASD specialist.

Sunday, September 13, 2015

Should autism screening take place during pediatric check-ups?

In August, the U.S. Protective Services Task Force (USPSTF) - a federally-funded panel of experts in primary care and prevention- released a statement that concerned many in the autism community. The panel concluded that current evidence is not sufficient to prove that screening children under three years old  for autism spectrum disorder (ASD) during primary care visits results in better outcomes for those children who do go on to be diagnosed with ASD. The panel recommended extensive further research to determine whether there is a direct link between universal screening for ASD and better treatment outcomes. The panel's conclusions run counter to those of the American Academy of Pediatrics, which are considered best practice by most autism research and advocacy organizations. So, we asked 3 CAR scientists to help cut through the confusion. 

Susan E. Levy, MD, is a developmental pediatrician at CHOP and chairs the AAP's Subcommittee on Autism.
"My immediate concern is that parents and general pediatricians will misinterpret the recommendations to mean that universal screening isn’t worth it. And that is far from the truth.“If we wait for the perfect screening tool, we’re going to miss the opportunity for early identification - and therefore early intervention, which we know is the most important factor in improving ASD symptoms.”

David S. Mandell, ScD
, is Associate Director of CAR and  of the Center for Mental Health Policy and Services Research at the University of Pennsylvania's Perelman School of Medicine. 

"If you’re a physician who has 10-15 minutes with a patient, the screening is critical because it gives physicians information they just wouldn’t otherwise have a way to collect during that very brief interaction with the child.... I think the evidence we have available now is strong enough to suggest that screening identifies children with ASD and that high quality treatment is effective. I really think that should be enough to uphold the value of universal screening.”


Juhi Pandey, PhD, is a pediatric neuropsychologist at CAR and Clinical Assistant Professor of Psychology at the University of Pennsylvania's Perelman School of Medicine. 
"Targeted screening at specific ages- rather than screening only when the clinician or parent raises a concern- takes away any inherent bias. No matter how strong a practitioner's clinical judgment is, or no matter how well a parent knows their child, we are human. We need standardized testing at regular intervals to make sure our biases aren't causing us to over-or under-estimate a child’s developmental functioning."