These are my notes for a webinar and CME class from The Cleveland Clinic Center for Continuing Education, featuring an interview with neurologist Margaret Bauman, MD, facilitated by Marvin Natowicz MD, PhD of The Cleveland Clinic. Dr Bauman is a renowned expert in children and adults with developmental disabilities, especially autism.
The interview begins with a discussion of the changes in diagnostic criteria between the DSM IV and the DMS V. The DSM IV was first published in 1994, and those criteria were used until the DSM V came out in the spring of 2013. In the DSM IV, the diagnosis was broken down into subcategories including Asperger's Syndrome, PDD-NOS, Rhett Syndrome, etc. Now those are all lumped together and being classified as mild, moderate, and severe. Sensory symptoms have been added as behaviors to look for as far as diagnosis. A new diagnosis of Social Communication Disorder has been added and there is some concern that some children may no longer by considered to have autism, and may be switched to this new SCD. There is a lot of concern from the research perspective because the sub diagnoses were used to identify study populations.
Early diagnosis is important for autism, it leads to a better outcome if services are started earlier. It is very hard to have any firm diagnosis under the age of 12 to 14 months. Earlier identification would need a biomarker. The MCHAT is the primary measure used to screen for autism. The first concern is generally that the child may be deaf, or is not responding to his or her name. She says you can't really be sure that the child has autism until about 3 years of age, simply due to variation in development. She makes the point that many people with autism understand most of what is said around them, even if they show no understanding, so be cautious what you say. She also says that this is an example in which the parents have been aware of this for a long time, but clinicians have been slow to listen to parents and learn from them, when they are right.
What are the types of motor dysfunction that can occur in autism? Hypotonia, or low muscle tone, is very common. In a study looking at younger siblings of kids with autism, they noticed some motor abnormalities quite young, one example being a sign called head lag, which is supposed to be gone by 4 months but was seen in some of the kids at 6 months, and many of those kids did go on to develop autism. Head lag is when you pull the child to a sitting position, the head lags backward before coming up at the end, it is poor head control. Delays in sitting, crawling, or walking independently are also common. Stereotypical movements such as flapping. Also motor planning problems, which means "how do I get my body to do what I want it to do?" and can affect things such as dressing, eating, etc.
Repetitive behaviors can be a sign of an underlying medical problem. She gives the example of a child how repeatedly banged his head, who turned out to have colitis. Once the colitis was treated the head banging stopped. Repetitive and stereotypical behaviors are often thought to be "part of the autism" or a sensory issue, when that may not be the case. She makes the point that as a neurologist, she needs to think "outside her specialty" or to get help doing that because kids with autism are complex. Autism doesn't stay within one specialty.
Complex Partial Seizures are a common form of seizure disorder in children with autism, which may present as facial movements, staring spells, fainting, repetitive behaviors, again she points out that the signs of the seizures may be missed as being "just an autistic behavior". EEGs can miss seizures, which can occur when the source of seizures is very deep in the brain. The zero to 5 year group and the adolescent years seem to be the higher risk periods, which is the same as the general population.
Sleep disorders are another category of neurological disorder found often in people with autism. Many kids have a hard time falling asleep, and or don't stay asleep (they may wake up after a few hours and not go back to sleep). Night terrors and sleepwalking are also concerns. She points out the when the child doesn't sleep, the family isn't sleeping. Melatonin can be very effective. She suggests starting at a low dose, maybe 1mg, and going up to maybe 3mg. For some kids GERD can cause sleep problems. Also enlarged tonsils and/or adenoids should be considered.
Dr Natowicz asks her what her basic guidelines for care of people with autism? She says first, assume competence on the part of the person with autism. Do not assume reduced intelligence or understanding. There is a need to find biomarkers, doesn't know if this is realistic. Autism is heterogeneous, meaning not all autism is the same, so there will not be one biomarker. She feels there is a need to look at subsets of people with autism. For example, there is a subset of people on the autism spectrum with the MET gene who present as having both autism and GI disorders. Older teens and adults need better options for daily activities. We need to be more creative in finding meaningful employment for adults. As for research priorities, autism is not just a "brain problem", it is a more complex systemic problem that needs to be studies that way. For example many neurotransmitters exist in the gut as well as the brain, serotonin is primarily made in the gut, so the GI piece seems especially relevant. She also says that when they do post-mortem studies, they rarely have the clinical details about the individual to really make sense of the findings under the microscope mean.
