Characterization of Initial Gastrointestinal Evaluation of Children with Autism Spectrum Disorder: A Descriptive Study.

Autism spectrum disorder (ASD) is a multifactorial, pervasive neurodevelopmental disorder affecting 1 in 36 children in the United States. Given the rising prevalence and significant economic and social costs associated with ASD, it is critical that continued efforts be made towards better understanding the underlying etiology as well as management of the condition and its commonly associated comorbidities. It has been estimated that upwards of 70% of children with ASD have a positive history of gastrointestinal (GI) symptoms. In this retrospective, descriptive study, we identified 131 patients with diagnosis of autism spectrum disorder who presented for initial evaluation by pediatric gastroenterology at the Baystate Children's Specialty Center. We collected data from chart review of these patients with a particular focus on reason for referral, components of evaluation as well as results of said evaluation. Of the 131 patients, the most frequent reason for referral included constipation (42.7%), abdominal pain (27.5%), and feeding difficulties (26.7%). After completion of the evaluation, 60.3% of patients were ultimately diagnosed with a functional gastrointestinal condition. Of patients who completed endoscopic evaluation, 40% of patients were found to have grossly abnormal and 40% were found to have pathologically abnormal EGD. The majority of patients were recommended to have diagnostic evaluation; however, a large proportion of them were unable to complete said evaluation. The majority of patients were found to have abnormal testing; however, the majority of patients were additionally diagnosed with a functional gastrointestinal condition.

Concurrent, New-Onset Autoimmune Hepatitis, Celiac Disease, and Hashimoto's Thyroiditis Following COVID-19: A Case Report.

Here we describe a 13-year-old adolescent female diagnosed with concurrent autoimmune disorders including Grave disease, Celiac disease, and autoimmune hepatitis within 3 months after infection with severe acute respiratory syndrome coronavirus 2. The patient initially presented to her pediatrician with complaints of epistaxis, cessation of menses, palpitations, and weight loss. Initial evaluation showed evidence of hyperthyroidism, elevated liver enzymes, and abnormal Celiac disease serologies. Additional testing including laboratory tests, liver biopsy, and an upper endoscopy with biopsies confirmed the diagnosis of Grave disease, Celiac disease, and type 1 autoimmune hepatitis. This case highlights the importance of recognizing the risk of autoimmune disorders associated with the novel coronavirus disease 2019.

Severe Necrotizing Pancreatitis in a Pediatric Patient with COVID-19: A Case Report.

We describe a 15-year-old female diagnosed with necrotizing pancreatitis in the setting of coronavirus disease 2019 with severe complications including splenic vein and portal vein thromboses, pleural effusion requiring chest tube, acute hypoxic respiratory failure requiring noninvasive positive-pressure ventilation, and new-onset insulin-dependent diabetes mellitus, requiring over a month-long hospitalization. Following discharge, the patient experienced a prolonged loss of appetite, nausea, and extreme weight loss., During her prolonged hospitalization, she was diagnosed with necrotizing pancreatitis with walled-off collection which was ultimately treated with transgastric endoscopic ultrasound-guided drainage, multiple endoscopic necrosectomies, lumen-apposing metal stents, and double-pigtail plastic stent. Nine months after her initial presentation, patient's clinical symptoms improved, and her weight stabilized. This case highlights the importance of recognizing acute and necrotizing pancreatitis and its morbidities as complications associated with coronavirus disease 2019.

Incidental Hepatic Granulomata as the Initial Presentation of Crohn's Disease in a Pediatric Patient.

We describe a 9-year-old girl who presented with abdominal pain, found incidentally to have multiple liver granulomata. Extensive autoimmune and infectious workup was negative. The patient had esophagogastroduodenoscopy and colonoscopy, confirming the diagnosis of Crohn's disease. Hepatic granulomata are a rare complication of Crohn's disease and are often secondary to pharmacotherapy or infection in immunosuppressed patients. This case, to our knowledge, is the first reported case of a pediatric patient diagnosed with Crohn's disease after initially presenting with hepatic granulomata as an extraintestinal manifestation of the disease.

Autism Spectrum Disorder and Medical Cannabis: Review and Clinical Experience.

Autism spectrum disorder (ASD) is a multifactorial, pervasive neurodevelopmental disorder defined by the core symptoms of significant impairment in social interaction and communication as well as restricted, repetitive patterns of behavior. In addition to these core behaviors, persons with ASD frequently have associated noncore behavioral disturbance (ie, self-injury, aggression), as well as several medical comorbidities. Currently, no effective treatment exists for the core symptoms of ASD. This review reports the available preclinical and clinical data regarding the use of cannabis and cannabidiol in the treatment of core symptoms, noncore symptoms and comorbidities associated with ASD. Additionally, we describe our clinical experience working with children and young adults with ASD who have used cannabis or cannabidiol. At present, preclinical and clinical data suggest a potential for therapeutic benefit among some persons with ASD and that it is overall well tolerated. Further research is required to better identify patients who may benefit from treatment without adverse effects.

Varenicline in Autism: Theory and Case Report of Clinical and Biochemical Changes.

OBJECTIVE: To explore the potential benefits of varenicline (CHANTIX®), a highly specific partial agonist of neuronal α4ß2 nicotinic acetylcholine receptors (nAChR), for autistic symptoms, and present resulting biochemical changes in light of dopamine-related genotype. METHODS: The clinical and biochemical changes exhibited by a 19-year-old severely autistic man following the use of low-dose varenicline in an ABA experiment of nature, and his genotype, were extracted from chart review. Clinical outcome was measured by the Ohio Autism Clinical Impression Scale and 12 relevant urine and saliva metabolites were measured by Neuroscience Laboratory. RESULTS: With varenicline, this patient improved clinically and autonomic biochemical indicators in saliva and urine normalized, including dopamine, 3,4-dihydroxyphenylacetic acid (DOPAC), epinephrine, norepinephrine, taurine, and histamine levels. In addition, with varenicline, the dopamine D1 receptor (DRD1) antibody titer as well as the percent of baseline calmodulin-dependent protein kinase II (CaM KII) activity dropped significantly. When varenicline stopped, he deteriorated; when it was resumed, he again improved. Doses of 0.5, 1, and 2 mg daily were tried before settling on a dose of 1.5 mg daily. He has remained on varenicline for over a year with no noticeable side effects. CONCLUSION: This report is, to the best of our knowledge, only the second to demonstrate positive effects of varenicline in autism, the first to show it in a severe case, and the first to show normalization of biochemical parameters related to genotype. As with the previous report, these encouraging results warrant further controlled research before clinical recommendations can be made.