Psychiatric manifestations in Egyptian Gaucher patients on enzyme replacement therapy

• Published in: Journal of psychosomatic research Vol. 122; pp. 75 - 81
• Main Authors: Tantawy, Azza Abdel Gawad, Adly, Amira Abdel Moneam, Salah El-Din, Nouran Yousef, Abdeen, Mai Seif El Din
• Format: Journal Article
• Language: English
• Published: England Elsevier Inc 01.07.2019; Elsevier Science Ltd
• Subjects: Adolescent; Adolescents; Arabic language; Child; Clinical variables; Cross-Sectional Studies; Egypt; Enzyme Replacement Therapy - methods; Female; Fibroblasts; Gaucher disease; Gaucher Disease - drug therapy; Gaucher Disease - psychology; Gaucher's disease; Genotypes; Glucocerebrosidase; Glucosylceramidase; Humans; Inborn errors of metabolism; Integrated care; Leukocytes; Male; Mental disorders; Metabolism; Mood; Neuropsychiatric symptoms; Patients; Phenotypes; Psychiatric disorders; Psychiatric symptoms; Psychological aspects; Psychological complications; Psychosis; Psychotic Disorders - drug therapy; Psychotic Disorders - etiology; Psychotic symptoms; Statistical analysis; Symptoms; Egypt; Glucocerebrosidase; Gaucher disease; Psychological complications; Psychiatric disorders
• ISSN: 0022-3999; 1879-1360
• DOI: 10.1016/j.jpsychores.2019.04.014

Gaucher disease (GD) may include psychiatric symptoms as a part of its wide spectrum of manifestations, with several reports describing its association with mood or psychotic symptoms. We investigated the presence of psychiatric manifestations in an Egyptian sample of Gaucher Disease (GD) patients. Our sample consisted of 22 GD patients (diagnosed by low glucocerebrosidase (GBA) activity in leukocytes or fibroblasts and molecular analysis by full (GBA) gene sequencing). 13 patients were classified as GD type 1 and 9 patients as GD type 3. We assessed the presence of psychiatric symptoms using the Mini-international neuropsychiatric interview (M.I.N·I) and the Mini International Neuropsychiatric Interview for Children and Adolescents (MINI-KID) tools. Arabic versions were used. The results showed that 41% of the sample had psychiatric disorders, with the most common being depression. None was receiving any form of psychiatric treatment. We found no statistically significant association between the presence of psychiatric disorders and any of the clinical variables of GD, its phenotype, or genotype. The current results suggest that GD patients are susceptible to psychiatric disorders. However, these results need to be replicated on a wider scale. These findings are of ultimate importance, considering the lack of integrated services addressing both the medical and psychological aspects of inborn errors of metabolism in many countries. •Several reports describe the association of Gaucher Disease with mood or psychosis symptoms.•The sample consisted of 22 Gaucher Disease (GD) patients.•Psychiatric manifestations were assessed using the (M.I.N.I) and the (MINI-KID) tools. Total IQ and EEG were done.•41% of the sample were positive for psychiatric disorders, with the most common being depression.•No significant association was found between the psychiatric disorders and GD clinical variables, phenotype, or genotype.