Prevalence
There is an increased prevalence of gastrointestinal disorders (GI) in patients with neurodevelopmental disorders (NDDs) and autism. Yet our current estimates of prevalence of functional gastrointestinal disorders (FGIDs) in these populations may be a gross underestimate because many of these patients are nonverbal and do not express pain and discomfort normally (1).
These FGIDs are defined by international consensus via the Rome IV Criteria as likely having a neurological basis (2). GI symptoms are one of the main determinants for decreased quality of life in patients and may include: GERD, IBS-like symptoms, dysmotility, chewing and swallowing dysfunction, feeding difficulty, gastroesophageal reflux, delayed gastric emptying, biliary tract disease, gas bloating, and constipation (1).
Failure to thrive can also develop, due to feeding problems and growth problems that may persist into adulthood in some disorders. A percentage of individuals with NDDs have G-tubes and GJ-tubes placed to facilitate feeding. Patients are often hospitalized due to the severity of symptoms and GI symptom-induced stress contributes to increased seizure frequency and sleep disturbance.
2022 CANDID Consortium
Our upcoming meeting, “Consortium for Autism, Neurodevelopmental Disorders, and Digestive Diseases (CANDID)”, aims to convene stakeholders from NIH Institutes, patient advocacy groups (Rett Syndrome Research Trust, RettSyndrome.org, Dravet Syndrome Foundation, Phelan-McDermid Syndrome Foundation, PTEN Hamartoma Tumor Syndrome Foundation, ADNP Kids Research Foundation, Dup15Q Alliance, Angelman Syndrome Foundation, SYNGAP Education and Research Foundation, Ring14 USA, International Foundation for CDKL5 Research, Autism Science Foundation, and Autism Speaks), and academia in a coordinated effort to develop a set of short- and long-term goals for both basic and clinical research in digestive health across autism spectrum disorders and other NDDs.
During the meeting, we will form working groups composed of relevant experts in these fields so that momentum can continue after the conference.
CANDID Goals
We seek to increase therapeutic discovery for GI disorders in traditionally under-funded neurological rare diseases. Patient advocacy leaders will provide necessary and complementary insights to that of clinical and research experts, which will be used to write competitive applications to relevant NIH ICs. We also hope to create content-specific interdisciplinary research teams.
Specifically, we aim to:
(1) Begin the development of a catalog of existing clinical and genetic data repositories maintained by individual organizations with relevance to exploratory research into digestive diseases in the autism and NDD community,
(2) Publish a summary of the discussion and consensus in the scientific literature, and develop a web page as a resource for shared repositories and facilitation of collaboration, and
(3) Inform postgraduate medical education for pediatric and adult GI fellows focused on the needs of patients with ASD.