Cyclic Vomiting Syndrome in Patients Affected by Jansen–de Vries Syndrome: Results From an International Survey

ABSTRACT Jansen–de Vries syndrome (JdVS) is an autosomal dominant neurodevelopmental disorder with intellectual disability and gastrointestinal (GI) abnormalities, including recurrent vomiting. This study aimed to understand the frequency and severity of GI symptoms in JdVS patients and to investiga...

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Bibliographic Details
Published in:American journal of medical genetics. Part A Vol. 197; no. 3; pp. e63918 - n/a
Main Authors: Pizzol, A., Adams, K. A., Vries, B. B. A., Curry, C. J., Calvo, P. L.
Format: Journal Article
Language:English
Published: Hoboken, USA John Wiley & Sons, Inc 01.03.2025
Wiley Subscription Services, Inc
Subjects:
Adolescent
Adult
Child
Child, Preschool
Constipation
cyclic vomiting syndrome
Diagnosis
Female
functional gastrointestinal disorders
Gastroesophageal reflux
Gastroesophageal Reflux - epidemiology
Headache
Hereditary diseases
Humans
Infant
Intellectual disabilities
Intellectual Disability - complications
Intellectual Disability - epidemiology
Intellectual Disability - genetics
Intellectual Disability - pathology
Intellectual Disability - physiopathology
Jansen–de Vries syndrome
Male
Migraine
Migraine Disorders - epidemiology
Neurodevelopmental disorders
Prevalence
Surveys
Surveys and Questionnaires
Vomiting
Vomiting - diagnosis
Vomiting - epidemiology
Vomiting - genetics
Vomiting - pathology
Young Adult
cyclic vomiting syndrome
Jansen–de Vries syndrome
functional gastrointestinal disorders
ISSN:1552-4825, 1552-4833, 1552-4833
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Summary:ABSTRACT Jansen–de Vries syndrome (JdVS) is an autosomal dominant neurodevelopmental disorder with intellectual disability and gastrointestinal (GI) abnormalities, including recurrent vomiting. This study aimed to understand the frequency and severity of GI symptoms in JdVS patients and to investigate the potential association with cyclic vomiting syndrome (CVS), which has not been previously reported. An international online survey assessed the prevalence and features of CVS and GI disorders in JdVS patients using Rome IV Criteria. The anonymous survey was conducted via Google Forms in April 2021. A total of 21 patients/guardians responded to the survey. The average age at JdVS diagnosis was 8.22 years (range: 1–42). Of the respondents, 6 (28.5%) had a CVS diagnosis, 5 (23.8%) had migraine, and 2 (9.5%) had abdominal migraine. Additionally, 8 (38%) had gastroesophageal reflux disease (GERD) and 8 (38%) had functional constipation. An analysis targeted questions showed that 7 (33%) met the Rome IV Criteria for CVS but were undiagnosed, leading to a CVS prevalence of 61% in this cohort. This study highlights a high prevalence of CVS in JdVS patients and underscores the need for increased awareness and accurate diagnosis to address misdiagnosis.
Bibliography:The authors received no specific funding for this work.
Funding
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ISSN:1552-4825
1552-4833
1552-4833
DOI:10.1002/ajmg.a.63918