Unveiling Psychopathology in Congenital Disorders of Glycosylation: A Comprehensive Study Using Patient Records, Questionnaires, and Literature Review.
Biochemical/Metabolic and Therapeutics
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Introduction:
Congenital Disorders of Glycosylation (CDG) have heterogeneous clinical phenotypes, ranging from neurological impairments to endocrinological abnormalities. While psychopathology in CDG is expected to be common, its prevalence in CDG has not been assessed on a large scale.
Methods:
We aimed to assess the prevalence of psychopathology in CDG, by performing a systematic literature review focused on the presence of reported psychopathology in case series and reports. In addition, we assessed the presence of an ICD10 coded psychopathology in 110 patient records of CDG patients recruited to our FCDGC natural history study.
Results:
Literature review revealed high prevalence of autism (16%) and anxiety (11%) in CDG patients. These percentages were recapitulated in our patient cohort of 110 patients, that similarly showed high prevalence rate of autism (10%) and anxiety (11%).
Conclusion:
Here, we found that psychopathology in CDG is frequently present, with notable high prevalence rates of anxiety and autism observed in literature reports, and patient-records. Our study shows that psychopathology should be a major point of focus during the clinical management of CDGs
Congenital Disorders of Glycosylation (CDG) have heterogeneous clinical phenotypes, ranging from neurological impairments to endocrinological abnormalities. While psychopathology in CDG is expected to be common, its prevalence in CDG has not been assessed on a large scale.
Methods:
We aimed to assess the prevalence of psychopathology in CDG, by performing a systematic literature review focused on the presence of reported psychopathology in case series and reports. In addition, we assessed the presence of an ICD10 coded psychopathology in 110 patient records of CDG patients recruited to our FCDGC natural history study.
Results:
Literature review revealed high prevalence of autism (16%) and anxiety (11%) in CDG patients. These percentages were recapitulated in our patient cohort of 110 patients, that similarly showed high prevalence rate of autism (10%) and anxiety (11%).
Conclusion:
Here, we found that psychopathology in CDG is frequently present, with notable high prevalence rates of anxiety and autism observed in literature reports, and patient-records. Our study shows that psychopathology should be a major point of focus during the clinical management of CDGs