Autism — neurological perspective

Our approach to autism

Autism is not a single biological diagnosis — it is a clinical picture made up of several different strands, each of which can vary widely between children. Before we plan anything, my first job as a paediatric neurologist is to confirm the diagnosis. Once that is settled, we map the rest of the picture: how does autism present in this particular child, what travels with it, and what could be driving it underneath?

I look at each strand separately, with the support of my clinic colleagues — the level and severity of autism itself, intellectual ability, attention and hyperactivity, behavioural patterns, sensory processing, sleep, language, and any medical comorbidities. Figures vary between studies, but as a rough guide: around a third of children on the autism spectrum have a co-occurring intellectual disability; up to a third have epilepsy or epileptiform EEG activity at some point; between a third and a half meet criteria for ADHD; and sensory differences are nearly universal. None of these can be assumed — each has to be measured, in this particular child, before it can be treated.

Once we have a clear picture of the child, we look for what is driving it. Is there a genetic cause we can act on? Is there an inflammatory process? Are there rare causes worth excluding? Does the history suggest heavy-metal or infectious exposure? At the same time, I keep the differential diagnosis open. Children referred with an autism question sometimes turn out to have a language and speech disorder, a psychiatric picture (selective mutism, anxiety, trauma, or low self-esteem) or — rarely — a neurodegenerative disorder that needs to be recognised early. The treatment plan, the therapy adequacy review, and the follow-up structure all flow from this integrated picture.

What the in-person evaluation looks like

A first visit starts with a detailed developmental and medical history, with parents and — where possible — the child's previous treating team. From there I work through the picture in four overlapping passes.

The first pass confirms and refines the diagnosis. Alongside the clinical examination we apply structured observation and rating measures — ADOS-2 and CARS for the autism profile, Bayley-4 for younger children and WISC-R for school-age cognitive ability, and Vineland-3 for adaptive function. These are not just for paperwork: they sharpen the conversation about strengths and difficulties, and they give us a baseline we can compare against later.

The second pass characterises what travels with autism — attention, hyperactivity, behaviour, sensory profile, sleep, eating and gastrointestinal function, language and motor development. Each strand is mapped separately, because each needs its own plan.

The third pass holds the differential diagnosis open. We rule out — or include alongside autism — language and speech disorders, psychiatric presentations (selective mutism, anxiety, trauma, low self-esteem), and, when the history suggests it, neurodegenerative conditions.

The fourth pass searches for an aetiology. Depending on what the history and examination show, we extend the work-up: chromosomal microarray and whole-exome or whole-genome sequencing where genetic testing has not been done or has been incomplete; targeted metabolic testing; EEG, with brain mapping if there are clinical or EEG indications; brain MRI and — where useful — MRS; autoimmune panels; heavy-metal screening when the history makes it relevant; gut-microbiome assessment in selected cases; and hearing and vision testing if these have not been formally checked.

Where the picture needs another set of eyes, I bring in the colleagues we work with regularly — child and adolescent psychiatry, paediatric gastroenterology, metabolism, clinical genetics and others as the case requires — for fast, focused consultations. Their findings come back to me, and the plan stays single and integrated rather than split across separate clinics.

While all this is happening, we also review the therapy your child is already receiving — Floortime, ABA, sensory integration, special education, speech and language therapy — and ask honestly: is the intensity right, is it the right model for this child, and is it actually working?

Therapies — what works, what doesn't, what's evolving

My principle is simple: when there is an underlying cause we can treat directly, that comes first. A genetic, metabolic or autoimmune driver — when one is found — opens the door to precision treatment, and that single step often outperforms anything we add on top of generic supportive care.

When there is no specific cause to treat, we make sure the evidence-based behavioural and developmental therapies are in place at the right intensity — Floortime, ABA, sensory integration, structured special education, and speech and language therapy. We change the model or the intensity where it does not fit the child, and we measure progress using the same tools we used at baseline, so we know whether what we are doing is actually working.

On top of that, we layer supportive measures where there is a clear reason for them: targeted vitamins and supplements when a clinical or laboratory finding justifies them; careful medical management of sleep, attention, mood and behaviour; and, for selected children, alternative supportive approaches and non-invasive neuromodulation. None of these are magic. We explain what the literature does and does not show for each option, and we measure response objectively rather than on impression.

I want to be especially honest about cell therapies — exosomes and stem cells. Families ask about these more often than any other topic. Our general position is that we do not routinely use stem-cell therapy for autism, because the evidence base does not yet support it for the condition itself. In selected children with specific indications, where the clinical picture and the literature together suggest a possible benefit, we will discuss it case-by-case, share our own experience and the current literature honestly, and proceed only with full informed consent and the Republic of Türkiye Ministry of Health authorisation that any such treatment legally requires.

Follow-up matters as much as the first plan. After diagnosis and treatment are in place, we stay involved — side-effect and efficacy review of any medication, supplement or therapy; structured re-evaluation at each control visit (online or in person) using the same measurement tools so progress is objective; and continuous access for urgent concerns. Autism is a long arc, and the plan has to evolve with the child.