Mai S. Abdelbaky, Egypt
ain shams unversity neuropsychiatry departmentAuthor Of 1 Presentation
Depression and early parkinsonian features in a sample of Egyptian children with Gaucher Disease (GD) and their association with GBA mutations. - EPP0316
Abstract
Introduction
GD is a lysosomal storage disorder. Several reports describe GD association with mood symptoms. GD link to early parkinsonism has also been documented. However, most studies were undergone in the adult population, few addressed these problems in children patients.
Objectives
To investigate the presence of depressive disorder and parkinsonian features in an Egyptian sample of children with GD.
Methods
Our sample consisted of 24 GD patients, younger than 18 years of age (diagnosed by low glucocerebrosidase (GBA) activity in leukocytes or fibroblasts and molecular analysis by full (GBA) gene sequencing) attending the Hematology Clinic, Ain Shams University, from October 2017 to May 2018. All patients were on enzyme replacement therapy.
Depressive and parkinsonian symptoms were measured using the Beck depression Inventory (BDI) and (Part III of the Unified Parkinson’s Disease Rating Scale (UPDRS- III), respectively. GD severity score index (SSI) and genotype were assessed.
Results
(66.6%) of subjects had parkinsonian manifestations; they were all homozygous for L444P and had significantly higher SSI compared to patients without parkinsonian manifestations. 6 patients (25% of the sample) were positive for depressive disorder. One patient was suicidal. Yet, none received psychiatric treatment. No significant correlation was found between BDI and UPDRS- III scores. Depression was positively correlated with disease severity. 5 of the depressed patients were of genotype L444P/L444P, and 1 was N370s/N370S.
Conclusions
The current results suggest that GD patients may be susceptible to depressive disorders. Whether depressive symptoms are related to the genotype L444P/L444P or to parkinsonism cannot be inferred.
Presenter of 1 Presentation
Depression and early parkinsonian features in a sample of Egyptian children with Gaucher Disease (GD) and their association with GBA mutations. - EPP0316
Abstract
Introduction
GD is a lysosomal storage disorder. Several reports describe GD association with mood symptoms. GD link to early parkinsonism has also been documented. However, most studies were undergone in the adult population, few addressed these problems in children patients.
Objectives
To investigate the presence of depressive disorder and parkinsonian features in an Egyptian sample of children with GD.
Methods
Our sample consisted of 24 GD patients, younger than 18 years of age (diagnosed by low glucocerebrosidase (GBA) activity in leukocytes or fibroblasts and molecular analysis by full (GBA) gene sequencing) attending the Hematology Clinic, Ain Shams University, from October 2017 to May 2018. All patients were on enzyme replacement therapy.
Depressive and parkinsonian symptoms were measured using the Beck depression Inventory (BDI) and (Part III of the Unified Parkinson’s Disease Rating Scale (UPDRS- III), respectively. GD severity score index (SSI) and genotype were assessed.
Results
(66.6%) of subjects had parkinsonian manifestations; they were all homozygous for L444P and had significantly higher SSI compared to patients without parkinsonian manifestations. 6 patients (25% of the sample) were positive for depressive disorder. One patient was suicidal. Yet, none received psychiatric treatment. No significant correlation was found between BDI and UPDRS- III scores. Depression was positively correlated with disease severity. 5 of the depressed patients were of genotype L444P/L444P, and 1 was N370s/N370S.
Conclusions
The current results suggest that GD patients may be susceptible to depressive disorders. Whether depressive symptoms are related to the genotype L444P/L444P or to parkinsonism cannot be inferred.