New research from the University of California-San Francisco suggests that a relatively simple test can diagnose autism in children. The researchers found that measuring the way a child’s eyes move when they turn their heads can reveal evidence of a gene variant linked to severe autism.
The research, published in the journal Neuron, describes a gene, SCN2A, that “makes an ion channel that is found throughout the brain, including the region that coordinates movement, called the cerebellum. Ion channels allow electrical charges in and out of cells and are fundamental to how they function. Several variants of this gene are also associated with severe epilepsy and intellectual disability.”
This is the latest in a series of breakthroughs in autism diagnosis and treatment in the last few years that have made serious headway into demystifying the disorder.
The Primary Care Companion for CNS Disorders has published three important research projects over the past 18 months that lift the veil on some of the questions surrounding autism. Here are summaries as well as links to these studies for further review.
Management of Individuals With Autism Spectrum Disorder in Clinical Settings
The Psychiatric Consultation Service at Massachusetts General Hospital published a case vignette that illustrates challenges in managing an 8-year-old boy with autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). The child presented with deteriorating behaviors in the emergency department.
The case study covers various aspects of ASD, including diagnosis, etiology, clinical manifestations, stress management, pharmacologic strategies, staff training, and the role of telemedicine.
Stressors such as disrupted routines can trigger behavioral disturbances, necessitating a structured evaluation and consideration of medical etiologies like seizures. While behavioral interventions are first-line, medications like α2 agonists and second-generation antipsychotics have proven effective in treating severe agitation. Training resources and telemedicine offer additional support for clinicians and families, enhancing access to care, especially during the COVID-19 pandemic.
Looking ahead, researchers wanted to develop targeted interventions and medications, addressing core symptoms and improving the quality of life for individuals with ASD. In this case, reducing sensory stimuli and treating an underlying ear infection helped manage the patient’s behaviors, highlighting the importance of comprehensive assessment and tailored interventions.
Managing ASD requires a multidisciplinary approach, prioritizing behavioral interventions, and judicious use of medications. Telemedicine holds promise for expanding access to care, while ongoing research aims to advance therapeutic options and enhance outcomes for individuals with ASD.
Vaccination Behavior Among Children With Developmental Delay and Their Siblings
Another study out of India planned to investigate vaccination uptake and associated factors in siblings of children with developmental delay, addressing persistent concerns regarding vaccination and autism spectrum disorder (ASD).
Conducted from December 2017 to February 2018, the researchers recruited families from child development centers in Kerala, India. They collected data using a semistructured questionnaire while pulling immunization status from the national schedule and MMR vaccination at 18 months.
The team uncovered results that pointed to significantly lower vaccination rates in children with developmental delay and their younger siblings compared to older siblings without developmental delay. Specifically, both groups boasted lower overall complete and MMR vaccination rates. The scientists found no notable link between vaccination status and sociodemographic variables.
The study highlighted the potential vulnerability of these children to vaccine-preventable illnesses. It emphasized the need for targeted public health strategies to improve vaccination rates in families of children with developmental disabilities.
Overall, the findings underscore the importance of promoting vaccination in this vulnerable population to enhance herd immunity and reduce the risk of outbreaks.
Gender Differences in Psychiatric Comorbidities in Autistic Adolescents
Finally, PCC published a study meant to explore sex differences in psychiatric comorbidities among adolescents with autism spectrum disorder (ASD). Researchers combed through data from the US National Inpatient Sample dataset (January 2016 to December 2018). The team chose adolescent patients aged 12–17 with ASD based on ICD-10-CM codes. The research focused on psychiatric comorbidities that included mood disorders, anxiety disorders, personality disorders, ADHD, conduct disorders, sleep-wake disorders, and substance use disorders.
Results suggested that women with ASD had higher prevalence rates of mood disorders and anxiety disorders compared to men. Conversely, men exhibited higher rates of ADHD and conduct disorders. The researchers found that substance use disorders appeared to be slightly more prevalent among men. Sleep-wake disorders were also more common in women. The team noticed no significant differences in psychotic disorders and adjustment disorders.
The findings highlighted significant sex-based disparities in psychiatric comorbidities among adolescents with ASD. Women tended to experience mood and anxiety disorders more frequently, while men showed higher rates of ADHD and conduct disorders.
The study underscores the importance of understanding these differences for tailored intervention strategies and further research in this population. Limitations included potential biases in hospital claims data and the predominantly White sample, which could affect generalizability.
Nevertheless, the study contributes valuable insights into the psychiatric profiles of adolescents with ASD, offering a foundation for future investigations.
Further Reading:
Enlarged Spaces in Infant Brains Linked to Higher Autism Risk
Alexithymia ‘Emotional Color-Blindness’ Can Challenge Relationships
