Autism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental condition defined by social-communication challenges and restricted/repetitive behaviors. However, these behaviors often serve as a form of communication, particularly in non-verbal or minimally verbal individuals. Medical comorbidities can significantly manifest as increased or altered behavioral patterns. Consequently, physical symptoms are often overlooked and misattributed to ASD, leading to delayed diagnosis and treatment. This review highlights the clinical significance of understanding “difficult” behaviors as potential symptoms of underlying medical comorbidities such as gastrointestinal distress, epilepsy, metabolic disorders, sleep disturbances, and psychological comorbidity while addressing the challenges in symptom recognition, and emphasizing the importance of a body-wide, customized medicine approach to address the well-being of autistic children and adolescents and the implications for diagnosis, treatment, policy, research, and practice.
Literature Review
Autism Spectrum Disorder (ASD), now affecting 1 in 36 children in the United States [1], presents a complicated picture of developmental variations combined with a heightened prevalence of medical comorbidities. Since Kanner’s initial 1943 identification, autism has been viewed as the manifestation of behavioral differences in the form of limited social interaction and the presence of stereotypy [2]. However, individuals with ASD are now recognized as facing an assortment of co-existing health concerns that must be understood to provide complete support [3].
Autism Spectrum Disorder (ASD) encompasses a range of neurodevelopmental conditions characterized by impairments in social interaction, atypical communication, and restricted and repetitive patterns of behavior and interests [1]. A crucial aspect often overlooked is that these behaviors can represent the primary means of communication, especially for those with limited verbal abilities. These difficulties in communication, coupled with potential sensory sensitivities and cognitive differences, can lead to “difficult” behaviors (e.g., aggression, self-injury, tantrums) that are misattributed solely to the core ASD diagnosis [3,4]
As a complicated group of neurobiological illnesses, one primary difficulty lies in differential diagnosis because symptoms of medical comorbidity often appear masked. Neurological conditions, like epilepsy, demonstrate prevalence between 8% and 30% among individuals with ASD [4]. However, seizures are complex, sometimes presenting as inattentiveness rather than full seizures [5,6]. This makes differential diagnosis a huge difficulty. Sleep patterns are affected as well; sleep problems are estimated to affect 50-80% of ASD people, showing up in problems with nighttime wakeups as well as daytime sleepiness, which results in additional behavioral difficulties [7,8].
There can also be GI [9,10], epilepsy [17], metabolic disorders [18,19], neurologic disorders [20], immune dysregulation [4,11], and mental health problems [12,13]. Physicians could easily miss them due to lack of awareness and knowledge of the specific needs or considerations for providing medical care to individuals with autism [14] and tend to overlook possible symptoms as part of autism, making it difficult to identify autism comorbidities because of factors such as limited communication abilities, the ambiguity of symptoms, their deviation from those in the general population, or their change over time [15, 20]. The importance of taking a holistic approach to diagnosing and treating autistic persons is emphasized by this complicated set of events [4,16].
Methodology
The methods employed were aimed at examining articles focusing on co-existing medical disorders and behavioral manifestation to help us understand the subtle complexity of these things in ASD. A multi-pronged strategy was used to obtain studies that fulfilled set criteria to promote the inclusion of all relevant literature. This included looking through PubMed, Scopus, as well as Web of Science. Selected were studies written in English of meta-analyses, original research, and other systematic literature reviews, as well as reviews that spoke to specific disorders, such as neurologic issues, such as seizures, and immune and GI-related problems. To ensure rigor during the evaluations, strict requirements on the sample scale, the study design, plus the relevance to topic were adopted during selection of the articles to be included.
Discussion
What emerges most is the complexity of diagnosing as well as treating autistic kids facing complex medical conditions behind the scenes. Diagnostic overshadowing can occur due to common autistic behavior, and it is an impediment since doctors typically give greater priority to their underlying psychological disorders and ASD rather than any possible co-existing medical conditions [3]. The main issue with this case is how much personalized attention is necessary to take into consideration in these special cases [16].
Personalized programs for autistic children should be developed to deal directly with behavioral plus sensorial aspects, and all should be made with special attention toward the variety that is innate with many with autistic diagnoses [21]. The current challenges of pediatricians in the diagnosis and treatment of children with autism derive from several barriers, especially from lack of knowledge about the medical characteristics of children with autism [14]. The consequence of limited communication among children with autism is that their clinical symptoms to a variety of medical conditions often manifest in the form of behaviors that are usually attributed to their autism diagnosis [18]. The most common autism comorbidity is GI problems. Up to 91% of children with autism suffer from GI problems [9,10] that are manifested by a wide range of behaviors, sometimes indicating specific GI problems [9]. This type of information can be conveyed to medical caregivers via customized patient reports induced by prominent AI technologies such as machine reasoning and natural language processing systems, thus bridging the gap between research and practice, with the involvement of the children’s caregivers that can provide the necessary information, especially behavior related [22].
Summary
In total, taking care of medical issues is a crucial component when treating and diagnosing autism. Children who enjoy good health have a better chance of learning [15]. However, in current clinical practice, the significance of behavioral change is overlooked as physicians see it as purely autistic behavior. To achieve improved results, future investigations and clinical initiatives need to concentrate on giving physicians the tools and mindset needed to discern physical disorders and mental health ones so that every child with autism can receive well-rounded treatment made for their individual cases.
Future Research
As of right now, there is not so much that has been studied about a biomarker to diagnose and treat people with autism. Going forward, more work must be done to help find biomarkers to help treat any underlying disease, because there are not enough resources there that talk about the connection. This new work may require collaboration in the future between policymakers, AI researchers and experts to make sure that people with autism will receive customized treatments.
Further studies will be crucial for developing the next generation of therapeutic procedures for children with an autism spectrum disorder. This involves investigating therapeutic drugs targeted at basic mechanisms, refining diagnostic procedures via biomarkers, and incorporating technology that monitors well-being of children with autism, resulting in an entire treatment that is truly individualized as well as helpful.
Adi Rodriguez Barnea, from the Department of Information Science at Bar-Ilan University, can be reached at adi.rba@gmail.com.
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