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Physician Insight Series

Autism spectrum disorder

Changing perceptions of a developmental disability

By Stuart Steichen, DO

From Minnesota Healthcare News

Autism spectrum disorder (ASD) is the term now used for a range of conditions previously classified separately as autism, Asperger’s syndrome, pervasive developmental disorder, and childhood disintegrative disorder. Symptoms range in severity along this spectrum, from mild and easily managed to severe and intensely debilitating.

This neuropsychiatric disorder affects about 1 in every 68 children, mostly boys, and occurs in all racial, ethnic, and socioeconomic groups. It is considered a developmental disability, often present from birth. While ASD can present challenges to individuals and families, ongoing research has paved the way to improved diagnosis and effective early intervention.

Symptoms of ASD

Children with ASD struggle with varying degrees of learning, social interaction, verbal skills, and non-verbal communication. They may have repetitive interests or restrictive behaviors. They may have a wide range of intellectual abilities, sensory impairments, or lack of motor skills. ASD also can affect a child’s imagination and self-regulation. Speech difficulties are quite common. Some children start to build a small vocabulary but stop between the ages of one and two. Children with ASD may seem tougher than others—for example, they may not cry when they fall. They may fail to make eye contact, but seek a separate visual stimulus, such as waving a stick in front of their eyes.

Many parents are surprised by the challenging behaviors that arise in children with ASD. These children can be violent to others, damage property, or engage in fecal smearing. Eating and sleep patterns are often disrupted, with some children ready to start their day at 3 a.m.

Holidays and large gatherings—especially those filled with the sensory issues that trigger ASD sensitivities—can be particularly stressful. Triggers may include strong smells from foods or perfume, excessive hugging and touching, crowded rooms, loud noises, and unfamiliar faces. Some people avoid these situations; others prepare for them ahead of time by role-playing.

Not all forms of ASD are severe, however, and children with milder forms may not be diagnosed early. These children may play baseball, join Cub Scouts, and seem perfectly normal until they get a little older. They may communicate, but poorly. These children may function well in a supported school or employment setting.

Other children display signs as newborns. In one such instance, a parent noticed during their first week of infancy that one of her twin sons—later diagnosed with ASD—seemed so much less alert and so much more relaxed than his brother. He made no eye contact while nursing, and did not like to snuggle much.

The boy’s fine motor skills seemed overly developed, with a greater focus on detail. At six months, he sat in the middle of the carpet, picking up tiny rocks or bits of dirt and setting them aside on a tissue. As a one-year-old, he entertained himself by carefully turning pages in a dictionary or Bible for an hour. He was determined to learn to ride a tricycle and practiced constantly in a gym to the exclusion of other activities or other children. He began to toilet train himself at 18 months, but did not speak until after the age of two. Then, he woke one morning and began speaking  in entire paragraphs. Before the age of three, he had memorized several children’s books. He had an unusual tolerance to pain, never crying during infant vaccinations or after bumping his head while learning to walk. This high-functioning child is now doing well in school, practices his violin five days a week, sings in his school choir, and reads at his church once a month.

Occasionally, ASD is not diagnosed until a person is older. According to the Autism Science Foundation, signs of ASD in adolescents or adults can include anxiety in social settings, trouble forming and maintaining relationships, difficulty in making conversation, trouble practicing socially appropriate behaviors, and difficulty making eye contact. Adults with ASD may develop restricted or unique interests, such as obsessions with dictionaries or encyclopedia facts, as well as an obsession with rigid routines or trouble planning for the future.

Contributing factors

ASD is often genetic. Siblings of children with autism have ten times the risk of being diagnosed with ASD compared to siblings of children without the condition. Research continues to identify genes associated with the disorder, but this research has not yet led to personalized clinical treatment or prevention.Environmental factors can also lead to autism. These include advanced ages of the parents, prenatal infections, fetal cerebral hypoxemia (a shortage of oxygen during pregnancy), prematurity, or exposure to toxins.

Despite some publicity to the contrary, immunizations and vaccines have not been found to contribute to ASD.

Diagnosing ASD

Most children with ASD are diagnosed at age two or older, when they start exhibiting symptoms, including a failure to make eye contact or respond to their names. In a recent article appearing in the journal Nature, University of Minnesota assistant professors Jed Elison and Jason Wolff, together with other researchers, state that physicians may soon be able to diagnose infants at a much younger age, by tracking their brain growth using MRI technology and neurobiological data. Excessive brain growth between six and 12 months of age is a significant predictor of ASD, according to Elison.According to the website of the university’s Institute of Child Development, “researchers found that brain differences at six and 12 months of age in infants with older siblings with autism correctly predicted eight out of 10 infants who would later meet criteria for autism at 24 months of age in comparison to those infants with older ASD siblings who did not meet criteria for autism at 24 months.”

Children with ASD may experience concurrent symptoms of anxiety, ADD (attention deficit disorder), ADHD (attention deficit hyperactivity disorder), aggression, epilepsy, or gastrointestinal disorders. Sometimes it is these conditions that prompt an initial visit to a physician and a subsequent diagnosis of ASD.

If you suspect your child may have ASD, see your physician. There are cognitive assessment tests that can be given to even very young children.

Stressing early intervention

Evidence shows that early, intensive behavioral intervention can improve cognitive ability, adaptive skills, and language in those with ASD, underscoring the importance of early identification. There is now evidence to support the use of a screening tool at 18- and 24-month well child visits for those children suspected of having the disorder.

While there is no cure, physicians have long known that early intervention leads to better outcomes for children with ASD who are treated with cognitive and communication training. Treatment for ASD targets the behaviors. Therapists use highly structured interventions and skill-oriented training to help children with their social skills, language development, and reversal of negative behaviors.

No medication has yet been approved to treat the underlying symptoms of ASD, but there are drugs that can ease individual symptoms, including anxiety, depression, and obsessive-compulsive disorder. Physicians may prescribe antipsychotic medications to treat severe behavioral problems, anticonvulsant drugs to treat seizures, and medications such as Ritalin and Adderall to treat those with attention deficit disorder.

Parents almost always want to do something to help their children. As a result, they often are misled by unreliable sources of information and promised treatments. Sadly, there are a number of unproven treatments advertised that probably do more harm than good.

Parents who are interested in trying new medications for their children may be eligible for a clinical trial. Ask your physician about studies in your area, or visit www.nih.gov/health/clinicaltrials or www.clinicaltrials.gov for more information.

Looking forward

If you suspect your child may have ASD, reach out for help early. Schools can help guide you to available resources. It can be difficult to grow comfortable with the uncertainty of your child’s future, but support groups and autism day treatment programs can link you with others for advice and encouragement.Remember to focus on the positive. Praise your child for his or her good behaviors. Stay consistent in your daily planning for activities. Routines are good. Learn all you can about ASD so you can make good choices for your child.

Your physician will partner with you as you travel this journey with your child, offering medical advice and psychological support. You are not alone.

Stuart Steichen, DO, is a board-certified family medicine physician at the Apple Valley Medical Center.

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