Autism is a neurodevelopmental disorder that is often apparent in the first 2 to 3 years of life. It has two primary features, the first is a disorder of social communication and interactive skills, and the other is the presence of restricted and repetitive interests with atypical sensory processing.
Often the first symptoms are a delay in acquiring language and sometimes loss of previously acquired language. This is typically accompanied by a lack of eye contact and a lack of the child responding to their name. Other early signs include an absence of pointing and a child who does not try to get his/her parents attention. In addition to the communication deficits the child will show restricted or repetitive interests such as fixating on spinning wheels or lining up objects. This is often accompanied by repetitive motor behaviors such as hand flapping and toe walking. Mild motor delays are also often present. Many children with autism are overly sensitive to sound or touch, or may seek out sensory experiences such as excessive mouthing or seeking out different textures.
This is a clinical diagnosis which means that there are no biological markers for autism. It cannot be diagnosed with a blood test or an MRI. The diagnosis is made by experienced professionals who spend considerable time interacting and observing the child in a play-based environment. Typically, a diagnosis of autism is made by a developmental pediatrician, pediatric neurologist or psychiatrist or a developmental psychologist. The current clinical criteria for a diagnosis of autism are outlined in the Diagnostic and Statistical Manual for mental health disorders DSM - 5th edition. This is where the clinical criteria for all neurodevelopmental conditions are described. For a child to be diagnosed with a neurodevelopmental disorder such as autism, he or she needs to meet the clinical criteria laid out in the DSM 5. There are also some specific assessment tools that are administered by a trained clinician, which use specific play-based activities and social schema to analyze a child’s response to play and social overtures. This is generally accompanied by a through medical and developmental history and the use of standardized questionnaires designed to measure the degree of autism symptoms present.
It is important to remember that typically developing toddlers or those with other types of delays can show some of these symptoms and that the diagnosis of autism requires a careful analysis of the preponderance of the child’s behaviors and the absence of expected social behaviors.
The understanding of autism has evolved dramatically over the past 40 to 50 years. At first clinicians felt that the diagnosis of autism required meeting a very narrow set of criteria that almost always included severe speech delay and often intellectual disability. Awareness then increased that there were also individuals who seemed to have social difficulties and restricted interests but no intellectual disability or language delay, so they did not meet the strict definition of autism. In the 1980s researchers found old papers by an Austrian pediatrician called Hans Asperger who had described in detail children that he treated who fit this profile and the term Asperger’s syndrome appeared in the DSM at that time to describe verbal and cognitively intact children who nevertheless had social deficits. By the 1990s a new edition of the DSM was produced, the DSM 4 , which described a group of disorders including autistic disorder, Asperger’s Disorder and PDD – nos which was considered a ‘milder’ version of Autistic disorder. However, this led to confusion with no clear consensus on what constituted the differentiation between the different disorders so in the early 2000s, during meetings to revise the DSM for its 5th edition, it was decided that as these three diagnoses appeared to be different degrees of the same disorder, it would be more helpful to pull them together in one broad spectrum –hence the DSM 5 uses the term Autism Spectrum Disorders. The differentiation in degree is now described by qualifiers such as with or without intellectual disability or language impairment, and is divided into 3 levels of severity based on the levels of support required ranging from minimal support, to substantial to very substantial levels of support.
While we do not know specifically what causes autism, there is felt to be a strong genetic component and many genes have been identified as being more prevalent in individuals with autism spectrum disorder. Having a sibling with autism increases the risk and boys are more affected than girls. There are also recognized genetic syndromes where autism is a common component such as Fragile X syndrome or Tuberose sclerosis. Other risk factors include many variables such as older parental age and pregnancy complications such as premature delivery or taking certain medication in pregnancy such as Phenytoin.
Despite some earlier controversy it has been proven through extensive scientific research that the MMR vaccine does not cause Autism.
Treatment for autism typically involves a multidisciplinary approach involving behavioral therapists, speech, occupational and physical therapists as well as specialized school settings designed to facilitate development and enhance learning in children with autism. One type of therapy ‘Applied Behavioral Analysis’ or ABA is an intensive educational program to help teach children with autism basic skills and improve their overall development. This is one of the most rigorously studied and successful treatment modalities to date and is usually part of a comprehensive treatment plan. There are many other types of therapy that are often used successfully to help children with autism and more information on the most current evidence-based treatments can be found at www.nationalautismcenter.org
In terms of medication, there is no medication to treat autism per se. However, many children with autism have other associated diagnoses for which there are good medical treatments such as ADHD, anxiety disorders or sleep disorders. Atypical antipsychotic medications have been approved for the treatment of symptoms of autism that include significant dysregulation and aggression.
If you are concerned about your child speak with you pediatrician about your concerns. The American Academy of Pediatrics recommends that all children are screen for autism at ages 18 and 24 months. Your pediatrician can administer a screening tool and can make a referral to a subspecialist to help make a diagnosis. If your child is under age three you or your pediatrician can make a direct referral to the local Early Intervention Program, which is a federal program available in all states and counties that will evaluate and provide necessary services for children with developmental delays including autism. Contact information for all state early intervention programs can be found on the CDC website at www.cdc.gov/ncbddd/actearly/parents/states.html