By Mary Coleman
The symptoms of autism occur because of errors, mostly genetic, in final common pathways in the brain. These errors can either gradually become clinically apparent or they can precipitate a regression, often around 18 months of age, where the child loses previously acquired developmental skills.
Can a child harboring such a genetic error ever recover? The answer in each case depends upon a combination of educational and medical factors. Because there are so many different underlying disease entities, each of which has a subgroup of children with autistic features, there are a great variety of clinical patterns seen in autism. There are children who recover spontaneously, children with temporary reversibility of symptoms, children who have major recovery or improvement due to intervention, and children who do not respond to currently available treatments. If possible, it is relevant to identify the underlying disease entity; for example, there is spontaneous recovery seen in the dysmaturational/Tourette autism syndrome. New approaches are revealing the autistic features and underlying diagnosis in younger and younger children. However many children with autism have yet to receive an underlying diagnosis.
Regarding education, there are several different educational approaches to teaching young children with autistic features. Since autism encompasses so many different genetic errors and disease entities, an instruction program needs to be created for each child individually, taking weaknesses and strengths into consideration. The successful ones share the following features: (1) Starting as young as possible as soon as the autism diagnosis is given and (2) Having a significant amount time spent by the child one-to-one with the teacher. The children need a basic emphasis on learning social and language skills. The majority of individuals with classic autism also suffer from intellectual disability, so many children need additional help with cognitive advancement. To supplement the educational program, control of anxiety and improving the ability to focus are often indicated yet not always achievable.
Regarding medical therapies, attempts to medically treat all individual with autistic features with one drug has generally been a failure. However therapy for some non-core symptoms of autism, such as seizures, can be efficacious. Currently under intensive study with some limited therapies available are sleep disorders, food and gastrointestinal problems, and self-injurious behavior.
There are a few, extremely rare, known etiologies of autistic behavior where established medical/neurosurgical therapies already exist. These include biotinidase deficiency, creatine deficiency syndromes, dysembryoplastic neuroepithelial tumor, Landau-Kleffner syndrome, phenylketonuria, and Smith-Lemli-Opitz syndrome.
Thanks to DNA/RNA studies, hope for future treatments is now on the horizon due to the creation of rodent models of the disease entities with autistic subgroups. Although mice are not humans, there is a chance that the effectiveness and possible side-effects of putative therapies in these animals may become relevant. Such models already exist for Angelman syndrome, deletion 22q13.3 syndrome, fragile X syndrome, myotonic dystrophy type 1, neurofibromatosis type 1, PTEN disease entities, Rett syndrome, and tuberous sclerosis. Preliminary reports of therapeutic trials in some of these rodent models are promising and may extend to human clinical trials.
In the end, one of the most important interventional aspects in the field of autism and related disorders is the change of societal attitudes. Acceptance, understanding, and support for these children and adults with autism has been slow in coming, but largely thanks to a number of strong and amazing parents it’s underway.
Mary Coleman MD is Medical Director of the Foundation for Autism Research Inc. She is the author of 130 papers and 11 books, including six on autism. Her latest book is The Autisms, Fourth Edition co-authored with Christopher Gillberg MD. Read her previous blog post “Is there an epidemic of autism?”.