The Evolving Role of Neurologists

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“Autism is a human intellectual construct with recognizable symptoms,” explains Joshua Rotenberg, MD, child and adolescent neurologist at Houston Specialty Clinic in Texas. “Saying someone has autism is like saying someone has flu-like-symptoms, which could have been caused by Rhinovirus, COVID or any pathogen. Likewise, autism is a recognizable common pathway for many neuro-genetic disorders.”

In addition to the genetic and environmental link, the neurobiological basis of ASD has been the focus of research for decades. Significant neural, structural, functional, molecular, endocrine, electrophysiological, connective and neurotransmission differences have been recorded between the ASD brain and the neurotypical population.

Some children with ASD, aged 2-5 years old, show abnormal brain overgrowth in regions of the brain associated with cognition and pragmatism, as well as social, emotional, and language functions.5 Increased cerebellar volume, amygdala enlargement, and other volumetric abnormalities have been associated with worse social, communication and behavioral outcomes in patients with ASD.

Although the rate of brain development normalizes through adolescence and adulthood,cortical atrophy and reduced amygdala and frontal cortex volume have been detected in some patients with ASD. Dysfunctions in neural networks, distorted inter-hemispheric function, and mitochondrial abnormalities have also been detected. As a result, the current understanding is that ASD is underlined by complex and multi-modal structural and functional neurological abnormalities.

Neurologists play a crucial role in the diagnosis of autism,” explains Deepa Menon, MD, assistant medical director, at the Center for Autism & Related Disorders at Kennedy Krieger Institute in Baltimore, Maryland. “This includes the evaluation and management of autism-related comorbidities.”

“We help manage any illness experiences of autism,” adds Dr Rotenberg. “Our primary role is in facilitating a more specific diagnosis of ASD. However, we also assist with genetic testing and help the patient’s families understand the actionable medical information that comes from it. Neurologists should also be there to help families understand the disorder, particularly the cognitive processing. This can be very difficult for many families.”

Neurologists typically carry out an evaluation of symptoms associated with the ASD triad, as defined by the DSM criteria. “The DSM criteria is the baseline for ASD diagnosis. Furthermore, insurance companies often require standardized testing such as the autism diagnostic and observation scale (ADOS). These baseline metrics help analyze improvement over time,” explains Dr Rotenberg.

Neurologists also utilize motor skills in their diagnostic criteria, as these are quantifiable and can be objectively measured. Diverse motor deficits in both gross and fine motor domains such as gait, postural control and coordination have been recorded in ASD. Repetitive behaviors, a type of motor deficit, can also be identified in children using validated scales. In children with high functioning autism, praxis examination can help assess impairments in skilled movements.

The goal of the neurological evaluation is to rule out any associated neurological disorders. Although additional laboratory tests, metabolic work-ups or neuroimaging tests are not routinely recommended, they may be carried out when patients present with concerning symptoms. For example, electroencephalograms (EEGs) are particularly beneficial in determining the risk of seizures in patients with ASD. Subclinical EEG abnormalities in seizure-free ASD patients have also been associated with lower intellectual functioning and motor dysfunctions.

“Every child with autism does not need a prolonged EEG,” Dr Menon. In addition to the expense, an EEG process can be traumatic. The prevalence of EEG abnormalities without seizures is high, and an abnormal test can create deep anxiety and medicalize a child.

“Autism is associated with diverse comorbid neurological disorders, including seizures, sleep disorders, and possible developmental regression. Neurologists can help with the early detection and management of these conditions,” explains Dr Menon.

According to statistics:

At least 30% of patients with ASD are also diagnosed with epilepsy. The ASD brain is more prone to seizures owing to a lower seizure threshold believed to result from a combination of environmental and genetic factors. Although no single seizure type is more prevalent in ASD, these often co-present with cognitive impairments.

Intellectual disabilities are the most common comorbidity associated with ASD, affecting 80% of ASD patients.

Sleep disorders, particularly insomnia, are recorded in 44-83% of patients with ASD, typically toddlers. This is believed to result from a melatonin deficiency in the ASD brain.

Advances in genetic testing have helped elucidate polygenic causative genes common to ASD and other neurological disorders, suggesting a shared genetic basis for these disorders:

Some novel therapeutic modalities have also been explored for ASD management. For example, repetitive transcranial magnetic stimulation (rTMS) has been successfully utilized to restructure cortical excitability of neurons in the inferior parietal lobule, thus enhancing social cognition, emotion, empathy, memory, speech and action planning. Mente devices that provide non-invasive neurofeedback have been shown to enact significant changes in brain activity, sensory-motor behavior and repetitive behaviour. Cannabidiol (CBD) enriched cannabis has also shown promise in treating children with mild autism symptoms. Some novel therapeutic modalities have also been explored for ASD management. For example, repetitive transcranial magnetic stimulation (rTMS) has been successfully utilized to restructure cortical excitability of neurons in the inferior parietal lobule, thus enhancing social cognition, emotion, empathy, memory, speech and action planning. Mente devices that provide non-invasive neurofeedback have been shown to enact significant changes in brain activity, sensory-motor behavior and repetitive behaviour. Cannabidiol (CBD) enriched cannabis has also shown promise in treating children with mild autism symptoms.

80 percent intellectual disabilities for autistics is way higher then any figure I have seen. Two explanations I can think of is non representative sample of autistics, they are using the term “intellectual disabilities” differently than me. I use it for what used to be called “mental retardation” diagnosis.

“Repetitive behaviors, a type of motor deficit”. She called stimming a deficit, that is not going to go over well.

I agree 100%. The article views autism through an NT lens, identifying all atypical developments as pathological. Stimming has a proadaptive purpose, and given current knowledge, calling it an intellectual disability seems silly.

There ya go.
It is not overly hyperbolic to say that NTs view as a failure or defect or pathology anything and everything which is not NT-normative; as in, "If it was normal and healthy it would by definition be the same as us; therefore anything which is not us is by definition abnormal and unhealthy."