Clinical overview of children with mucopolysaccharidosis type III A and effect of Risperidone treatment on children and their mothers psychological status

Uçar, Sema Kalkan; Özbaran, Burcu; Demiral, Nagehan; Yüncü, Zeki; Erermiş, Serpil; Çöker, Mahmut

doi:10.1016/j.braindev.2008.12.010

Cited by 33 publications

(18 citation statements)

References 12 publications

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“…and therefore measures of adaptive behaviour such as VABS-II may be useful surrogates, as they include socialization and daily living measures. In one study, assessments of parental anxiety and depression using the Beck Depression Inventory (BDI) were used as surrogate markers of the effects of risperidone on behaviour [83] in an ongoing clinical trial of genistein in MPS III such measures enabled the identification of parents with clinical levels of psychological distress (Stewart Rust, personal communication). Assessment of parental mood using the BDI-II may therefore be useful.…”

Section: Recommendationsmentioning

confidence: 99%

Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III

Ghosh

Shapiro

Rust

et al. 2017

Orphanet J Rare Dis

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BackgroundMucopolysaccharidosis type III is a progressive, neurodegenerative lysosomal storage disorder for which there is currently no effective therapy. Though numerous potential therapies are in development, there are several challenges to conducting clinical research in this area. We seek to make recommendations on the approach to clinical research in MPS III, including the selection of outcome measures and trial endpoints, in order to improve the quality and impact of research in this area.ResultsAn international workshop involving academic researchers, clinical experts and industry groups was held in June 2015, with presentations and discussions on disease pathophysiology, biomarkers, potential therapies and clinical outcome measures. A set of recommendations was subsequently prepared by a working group and reviewed by all delegates. We present a series of 11 recommendations regarding the conduct of clinical research, outcome measures and management of natural history data in Mucopolysaccharidosis type III.ConclusionsImproving the quality of clinical research in Mucopolysaccharidosis type III will require an open, collaborative and systematic approach between academic researchers, clinicians and industry. Natural history data should be published as soon as possible and ideally collated in a central repository. There should be agreement on outcome measures and instruments for evaluation of clinical outcomes to maximise the effectiveness of current and future clinical research.

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Section: Recommendationsmentioning

confidence: 99%

Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III

Ghosh

Shapiro

Rust

et al. 2017

Orphanet J Rare Dis

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“…High BMI in our MPS cohort, in particular MPS IV, might be due to loss of motor function, resulting in a lack of physical activity. A higher BMI might also be explained by the use of psychotropic medication (e.g., risperidone), which is frequently used for MPS III patients to control behavioural disturbances [41], [42].…”

Section: Discussionmentioning

confidence: 99%

The factors affecting lipid profile in adult patients with Mucopolysaccharidosis

Stępień

Stewart

Hendriksz

2017

Molecular Genetics and Metabolism Reports

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BackgroundMucopolysaccharidoses (MPS) are a group of rare inherited disorders characterized by abnormal accumulation of glycosaminoglycans (GAGs) within the myocytes and coronary arteries. Little is known about hyperlipidaemia as a potential cardiovascular risk factor in these patients. Baseline cholesterol data in adults are scarce. Therefore, the aim of this study was to analyse factors affecting lipid profile in different types of MPSs to determine if abnormalities in lipid profile contribute to the overall risk of cardiovascular disease.MethodsAdult patients (above the age of 16) with MPS type I, II, III, IV and VI attending clinics in two Inherited Metabolic Disorders centres were included. Their lipid profile, lipoprotein (a), HbA1c, Glucose Tolerance Test (GTT), BMI and treatment type were extracted. Analysis included descriptive statistics and Student t-test.ResultsEighty two patients with five MPS types (I, II, III, IV and VI) were included in the study; 29 were females (35%) and 53 were males (65%). BMI above 25 kg/m2 in all MPS types indicated that some patients were overweight for their height. Only one patient post-HSCT had diabetes. In 3 cases insulin was analysed during GTT and showed no insulin resistance despite raised BMI. Mean total cholesterol and LDL-cholesterol were below 5 mmol/L and 3 mmol/L, respectively, in five individual MPS types. Lipoprotein (a) was available for 6 MPS IV patients and was not significantly raised.ConclusionsMPS disorders are not associated with significant hypercholesterolaemia or diabetes mellitus despite increased BMI. Total cholesterol and LDL-cholesterol were within the targets for primary prevention for non-MPS population. Lipoprotein (a) is not a useful marker of cardiovascular disease in a small group of adult MPS IV patients irrespectively of treatment option. Whether long-term cardiovascular risk is dependent on lipid profile, diabetes, obesity or GAGs deposition within the organ system remains unanswered.

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“…WISC-R is a standardized intelligence test for children and includes two parts - verbal and performance subtests. The Turkish standardization was made by Savasir and Erdogan-Bakar in 1995 (17,18,19). …”

Section: Methodsmentioning

confidence: 99%

Psychiatric Approaches for Disorders of Sex Development: Experience of a Multidisciplinary Team

Özbaran

Özen²,

Gökşen³

et al. 2013

JCRPE

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Objective: Disorders of sex development (DSD) are a group of congenital medical conditions that affect life as a whole. In this study, we aimed to reflect the experience of a multidisciplinary team in the clinical/psychiatric follow-up of a group of children and adolescents with DSD.Methods: The study group consisted of 51 patients diagnosed with DSD. The Kiddie-Schedule for Affective Disorders and Schizophrenia, Wechsler Intelligence Scale for Children-Revised, Draw a Person Test and Children’s Apperception Test, and the Clinical Global Impression Scale (CGIS) were used for psychiatric evaluations.Results: The mean age of the patients was 7.8 years (median: 7.8; min: 1.0; max: 18.0). Genetic evaluation showed 46,XX configuration in 15 patients (29.4%) and 46,XY in 35 (68.6%). One patient (2.0%) was diagnosed to have a sex chromosome disorder. Forty patients (78.4%) had no problems with their given gender identity and gender role. Thirty-four (66.7%) patients had normal intellectual capacity. Twenty-eight (54.9%) patients did not have any psychiatric problem. Depression, anxiety disorders, attention deficit/hyperactivity disorder, and adjustment disorders were the common diagnoses. The mean score of symptom severity on CGIS-severity-baseline was 6.15±0.68 and after one year, it was 1.46±0.51 (Z=-3.236 p=0.001). The mean score of CGI–Improvement was 1.23±0.44.Conclusion: It is important to identify and treat the psychiatric disorders encountered in patients with DSD. A psychiatrist needs to be included in the professional team following these patients. Examination and observation results need to be shared by holding periodic team meetings to establish a wholesome point of view for every unique child.Conflict of interest:None declared.

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Clinical overview of children with mucopolysaccharidosis type III A and effect of Risperidone treatment on children and their mothers psychological status

Cited by 33 publications

References 12 publications

Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III

Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III

The factors affecting lipid profile in adult patients with Mucopolysaccharidosis

Psychiatric Approaches for Disorders of Sex Development: Experience of a Multidisciplinary Team

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