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Autism Spectrum Disorder, Fragile X Syndrome, and 22q11.2 Deletion Syndrome Share a Constellation of Sociobehavioral Symptoms

Autism Spectrum Disorder, Fragile X Syndrome, and 22q11.2 Deletion Syndrome Share a Constellation of Sociobehavioral Symptoms
Preliminary Evidence Shows that CBD May Prove to be Effective in Managing the Spectrum of Behavioral Symptoms Associated with these Conditions

DEVON, PA — Zynerba Pharmaceuticals, Inc. (NASDAQ: ZYNE), the leader in innovative pharmaceutically-produced transdermal cannabinoid therapies for rare and near-rare neuropsychiatric disorders, presented data recently describing the results of a retrospective literature review on patients with autism spectrum disorder (ASD), Fragile X syndrome (FXS), and 22q11.2 deletion syndrome (22qDS) conducted to determine symptomatic overlap between these disorders.

The data indicate that patients with ASD, FXS, and 22qDS share a constellation of sociobehavioral symptoms and that the pharmacology of CBD is broad, continues to be defined, and may prove to be beneficial in addressing important behavioral symptoms of these conditions.

The poster, entitled Common Behavioral Features of Autism, Fragile X Syndrome, and 22q11.2 Deletion Syndrome, was presented on September 5th and 6th at the 22nd Society for the Study of Behavioural Phenotypes (SSBP) Research Symposium at Aston University in Birmingham, UK. A copy of the poster is available on the Zynerba corporate website at

Honey Heussler, MBBS, FRACP, MRCPCH, PGCAP, DM, Associate Professor, University of Queensland and Medical Director Child Development, Children’s Health Queensland is presenting data showing that patients with ASD, FXS, and 22qDS share a constellation of sociobehavioral symptoms that includes anxiety, which may lead to social avoidant behavior, aggression, irritability, attention deficits, and poor communication. Dr. Heussler is presenting the poster from 12:40 – 1:45 British Summer Time (BST) on September 5th and 6th, 2019.

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“Those of us who care for patients and families contending with certain neuropsychiatric dysfunction understand that there are significant shared sociobehavioral symptoms between such disorders, though until now no review has been conducted to examine or clarify the overlap,” said Dr. Heussler. “These data on the shared behaviors between ASD, FXS and 22qDS are important to understanding disease impact, patient care, and the development of potential treatments. One such potential treatment being studied in well-controlled clinical trials is a proprietary gel formulation of CBD, which has diverse pharmacologic effects and may prove to be important in these neuropsychiatric disorders.”

Based on insights from Company data, a search of the PubMed database was conducted using the terms “behavior,” “behavioral symptoms,” “autism spectrum disorder,” “ASD,” “Fragile X Syndrome,” “FXS,” “22q11.2 deletion syndrome,” “parents,” “caregivers,” and “CBD and treatment of anxiety” with no restriction on date or publication type. Records were then analyzed for relevance. The most common behavioral manifestations across all conditions are anxiety-related, such as social avoidance, aggression, irritability, attention deficits, stereotypy, poor communication, and social unresponsiveness.


Anxiety-related symptoms are common in patients with ASD with up to 84% of children experiencing some degree of debilitating anxiety. Rates of physician-diagnosed anxiety disorders in these patients range from 42% to 55% and may include simple phobias, generalized anxiety disorder, separation anxiety disorder, obsessive-compulsive disorder, and social phobias. Comorbid anxiety disorders can be associated with behaviors such as aggression/irritability and isolation from same-age peers (due to bullying/victimization in school). Inattention and hyperactivity are often present in Attention Deficit-Hyperactivity Disorder and ASD.

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In FXS, severe cognitive and social impairments are more common in males than in females. FXS usually has profound effects on the life of patients (comorbid conditions, social impairment) as well as their caregivers and families (mental health, absence from work/school). Anxiety and social avoidance are considered core features of FXS; further, anxiety can be thought of as a foundational precipitant to social avoidance. Social avoidance encompasses behaviors that may include seeking isolation, lack of interaction, social escape, and gaze avoidance that distance the individual from his/her social counterparts.


The most common behavioral/psychiatric diagnoses in children with 22qDS were ADHD, ASD, and anxiety. Up to one-third of patients with 22qDS will develop schizophrenia or schizo-affective disorder by late adolescent and early adulthood. The emergence of social deficits during adolescence can represent a major source of disability in some individuals with 22qDS. Cross-sectional studies (observational research that analyzes data collected at one given point of time across a sample population) show that children with 22qDS are withdrawn and shy, and have social impairments which may be less of a concern to the individual.

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The Potential Role of CBD in Managing Behavioral Symptoms Associated with ASD, FXS, and 22qDS

The authors conclude that preliminary evidence, including findings from the Phase 2 open-label FAB-C study in children and adolescents with FXS and a retrospective literature review based on insights from that Company data, shows that CBD improves social anxiety and associated behavioral manifestations suggesting that it may prove to be effective in managing the spectrum of behavioral symptoms associated with these conditions.

Source: Zynerba Pharmaceuticals, Inc., 80 Lancaster Ave Ste 300, Devon PA 19333

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