Roma Patients Research Articles

Awareness of Hepatitis B among Roma patients in Bulgaria

Background Chronic hepatitis B is a significant health problem affecting the Roma population in Bulgaria: In 2010, incidence of hepatitis B among Roma was 5.14 per 100,000 (newly registered cases), which is about six times higher than the EU average (0.87 per 100,000) and also higher than the incidence among non-Roma in Bulgaria (4.68 per 100 000). Factors contributing to higher hepatitis B prevalence among Roma include poorer living conditions …

Homozygous EXOSC3 Mutation c.92G→C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma

Pontocerebellar hypoplasia type 1 (PCH1) is characterized by cerebellar and anterior horn motor neuron degeneration and loss, signs of spinal muscular atrophy plus. Patients manifest severe perinatal weakness, hypotonia, and respiratory insufficiency, causing death frequently before the age of 1 year. Recently, causative mutations in EXOSC3 were reported in a majority of PCH1 patients, but the detailed clinical phenotype caused by EXOSC3 mutations, genotype-phenotype correlations, and prevalent mutations in specific ethnic groups is not yet known.Three unrelated Czech Roma patients with PCH1 were investigated clinically, electrophysiologically, neuroradiologically, and neuropathologically (patients 1 and 2). The entire coding region of the EXOSC3 gene, including the adjacent intron sequences, was sequenced in all three patients. The same mutation c.92G→C, p.G31A in EXOSC3 was found in all three affected patients in homozygous state and in heterozygous state in the parents from two of the families. Haplotype analysis with four flanking microsatellite markers showed identical haplotype in 9 out of 11 haplotypes carrying the c.92G→C, p.G31A mutation. Furthermore, four heterozygotes for this mutation were found in anonymous DNA samples from 90 unrelated Roma individuals. All four of these samples shared the same haplotype. No heterozygous sample was found among 120 anonymous DNA samples from Czech non-Roma individuals with no familial relation. It may therefore be concluded that EXOSC3 c.92G→C, p.G31A mutation is a founder mutation with high prevalence among the Czech Roma causing a similar and particularly severe phenotype of PCH1. These observations from the Czech Roma may have consequences also for other Roma from other countries.PCH1 caused by EXOSC3 founder mutation c.92G→C, p.G31A extends the list of autosomal recessive disorders rare among the general population but more frequent among Roma at least in the Czech Republic.

Differences in health-related quality of life between Roma and non-Roma coronary heart disease patients: the role of hostility

The aim of this study was to assess differences in health-related quality of life (HRQoL) between Roma and non-Roma coronary heart disease (CHD) patients, and whether differences in hostility contribute to this association. We examined 570 CHD patients (mean age 57.8, 28.1 % female) scheduled for coronary angiography, 88 (15.4 %) of whom were Roma. Hostility was measured using the 27-item Cook-Medley Scale and HRQoL using the Short-Form Health Survey 36, from which the mental and physical component summary (MCS, PCS) were calculated. The relationship between ethnicity, hostility and HRQoL was examined using regression analyses. Roma ethnicity was associated with poorer MCS (B = -3.44; [95 % CI = -6.76; -0.13] and poorer PCS (B = -4.16; [95 % CI = -7.55; -0.78]) when controlled for age, gender and socioeconomic status. Adding hostility to the model weakened the strength of the association between Roma ethnicity and MCS (B = -1.87; [95 % CI = -5.08; 1.35]) but not between Roma ethnicity and PCS (B = -4.07; [95 % CI = -7.50; -0.64]). Roma ethnicity is associated with poorer MCS and PCS. Hostility may mediate the association between Roma ethnicity and MCS. The poorer HRQoL of Roma CHD patients requires attention in both care and research, with special attention on the role of hostility.

Roma coronary heart disease patients have more medical risk factors and greater severity of coronary heart disease than non-Roma

Coronary heart disease (CHD) is the most common cause of mortality and morbidity world-wide. Evidence on ethnic differences between the Roma and non-Roma regarding medical risk factors is scarce. The aim of this study was to assess differences in medical risk factors and the severity of CHD in Roma compared with non-Roma CHD patients, adjusted for gender, age and education. Six hundred seventy four patients were included in this cross-sectional study (132 Roma, 542 non-Roma). Data on medical risk factors, symptoms, medication and severity of CHD were obtained from medical records. After matching Roma and non-Roma according to education, linear and logistic regression analyses with adjustments for gender and age were used. Compared with non-Roma, Roma patients had significantly more risk factors and more severe types of CHD. They were treated less frequently with statins and beta-blockers, were more frequently left on pharmacotherapy and surgically revascularised. These differences remained after controlling for education, gender and age. Roma CHD patients have a worse risk profile at entry of care and seem to be undertreated compared with non-Roma CHD patients.

The health mediators-qualified interpreters contributing to health care quality among Romanian Roma patients

In order to assure optimal care of patients with chronic illnesses, it is necessary to take into account the cultural factors that may influence health-related behaviors, health practices, and health-seeking behavior. Despite the increasing number of Romanian Roma, research regarding their beliefs and practices related to healthcare is rather poor. The aim of this paper is to present empirical evidence of specificities in the practice of healthcare among Romanian Roma patients and their caregivers. Using a qualitative exploratory descriptive design, this study is based on data gathered through three focus groups with 30 health mediators in the counties of Iasi and Cluj (Romania). We identified various barriers to access to healthcare for Roma patients: lack of financial resources and health insurance coverage, lack of cognitive resources or lack of personal hygiene, but also important cultural issues, such as the shame of being ill, family function, disclosure of disease-related information, patient's autonomy, attitudes towards illness and health practices, that should be considered in order to create a culturally sensitive environment in Romanian medical facilities:… The role of the health mediators within the context of cultural diversity is also discussed, as cultural brokers contributing to health care quality among Romanian Roma patients Bridging cultural differences may improve patient-healthcare provider relationships, but may have limited impact in reducing ethnic disparities, unless coupled with efforts of Roma communities to get involved in creating and implementing health policies.

Dying and Death in Some Roma Communities: Ethical Challenges

The Roma people have specific values, therefore their views and beliefs about illness, dying and death are important to be known for health care providers caring for members of this community. The aim of this qualitative study based on 48 semi-structured interviews with Roma patients and caregivers in communities in two regions of Romania was to examine their selfdescribed behaviors and practices, their experiences and perceptions of illness, dying and death. Five more important themes about the Roma people facing dying and death have been identified: (1) The perception of illness in the community as reason for shame and the isolation that results from this, as well as the tendency for Roma people to take this on in their self image; (2) The importance of the family as the major support for the ill/dying individual, including the social requirement that family gather when someone is ill/dying; (3) The belief that the patient should not be told his/her diagnosis for fear it will harm him/her and that the family should be informed of the diagnosis as the main decision maker regarding medical treatment; (4) The reluctance of the Roma to decide on stopping life prolonging treatment; (5) The view of death as 'impure'. These results can be useful for health care providers working with members of the Roma community. By paying attention to and respecting the Roma patients' values, spirituality, and relationship dynamics, the medical staff can provide the most suitable healthcare by respecting the patients' wishes and expectations.

Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1

Autosomal-recessive congenital cerebellar ataxia was identified in Roma patients originating from a small subisolate with a known strong founder effect. Patients presented with global developmental delay, moderate to severe stance and gait ataxia, dysarthria, mild dysdiadochokinesia, dysmetria and tremors, intellectual deficit, and mild pyramidal signs. Brain imaging revealed progressive generalized cerebellar atrophy, and inferior vermian hypoplasia and/or a constitutionally small brain were observed in some patients. Exome sequencing, used for linkage analysis on extracted SNP genotypes and for mutation detection, identified two novel (i.e., not found in any database) variants located 7 bp apart within a unique 6q24 linkage region. Both mutations cosegregated with the disease in five affected families, in which all ten patients were homozygous. The mutated gene, GRM1, encodes metabotropic glutamate receptor mGluR1, which is highly expressed in cerebellar Purkinje cells and plays an important role in cerebellar development and synaptic plasticity. The two mutations affect a gene region critical for alternative splicing and the generation of receptor isoforms; they are a 3 bp exon 8 deletion and an intron 8 splicing mutation (c.2652_2654del and c.2660+2T>G, respectively [RefSeq accession number NM_000838.3]). The functional impact of the deletion is unclear and is overshadowed by the splicing defect. Although ataxia lymphoblastoid cell lines expressed GRM1 at levels comparable to those of control cells, the aberrant transcripts skipped exon 8 or ended in intron 8 and encoded various species of nonfunctional receptors either lacking the transmembrane domain and containing abnormal intracellular tails or completely missing the tail. The study implicates mGluR1 in human hereditary ataxia. It also illustrates the potential of the Roma founder populations for mutation identification by exome sequencing.

Neurological Symptoms, Genotype-Phenotype Correlations and Ethnic-specific Differences in Bulgarian Patients With Wilson Disease

The aim of our study was to characterize the neurological symptoms in Bulgarian patients with Wilson disease (WD), to investigate genotype-phenotype correlations, and to test whether there are differences in phenotype between patients of different ethnic origin. A total of 126 Bulgarian patients with WD were included in the study. Detailed history, physical and neurological examination, laboratory investigation of copper metabolism, slit-lamp examination, abdominal ultrasound, magnetic resonance imaging/computed tomography of the brain, molecular genetic testing, and statistical analysis were performed. Eighty-two patients demonstrated neurological signs. Tremor and dysarthria were most frequently observed. Rigidity, bradykinesia, and pyramidal signs were found in >25% of the patients. Dystonia, chorea, athetosis, ballismus, and epilepsy were rarely observed. We identified a total of 27 mutations of ATP7B. The most frequent mutation is p.H1069Q found on at least 1 allele in 78% of the patients. We did not find a significant correlation between p.H1069Q homozygosity and age of onset, ceruloplasmin level, and urinary copper excretion. The patients homozygous for p.H1069Q presented more frequently with hepatic signs. Mutations predicted to cause production of truncated protein are associated with earlier age at onset and lower ceruloplasmin level. In contrast to Bulgarian patients, Roma patients had an earlier disease onset and more frequent hepatic manifestation. WD presents with a variety of neurological signs. The mutation p.H1069Q is not uniformly associated with late onset and neurological presentation. Frameshift and nonsense mutations lead to severe phenotype. There are ethnic-specific differences in disease manifestation.

Ethical issues in communication of diagnosis and end-of-life decision-making process in some of the Romanian Roma communities

Medical communication in Western-oriented countries is dominated by concepts of shared decision-making and patient autonomy. In interactions with Roma patients, these behavioral patterns rarely seem to be achieved because the culture and ethnicity have often been shown as barriers in establishing an effective and satisfying doctor-patient relationship. The study aims to explore the Roma's beliefs and experiences related to autonomy and decision-making process in the case of a disease with poor prognosis. Forty-eight Roma people from two Romanian counties participated in semi-structured interviews, conducted by a research team from the University of Medicine and Pharmacy of Iasi. Participants were recruited among the chronically ill patients and caregivers. The Roma community opposes informing the terminal patients about their condition, the "silence conspiracy" being widely practiced. The family fully undertakes the right of decision making, thus minimizing the patient's autonomy. We identified ethical dilemmas concerning autonomy, lack of patients' real decision-making power, and paternalistic attitudes exerted firstly by the family and, on demand, by the physician. Instead, the Roma patient benefits from a very active support network, being accompanied at the hospital by numerous relatives. The patient's right to make autonomous decisions promoted in the Western countries and stipulated by the Romanian law has diminished value in the Roma community. For the Roma, the understanding of dignity is not simply individual and personal, but it is closely related to their cultural particularities. Ignoring their cultural values could create conflicts between healthcare providers and community.

Sociodemographic and clinical characteristics of Roma and non-Roma psychiatric outpatients in Greece

Objective. Differences in psychiatric symptoms are often reported between minority and majority groups. The aim of this study was to compare Roma psychiatric outpatients who are Greek citizens living in Thrace (Greece) with outpatients belonging to the ‘majority Greek group’ with respect to socio-demographic characteristics, psychopathological symptoms and psychiatric diagnoses. Design. A sample of 122 Roma and 132 majority Greek patients visiting the Outpatient Psychiatric Clinic at the University General Hospital of Alexandroupolis, Greece, were examined with the Structured Clinical Interview for DSM III-R (SCID-I), the International Personality Disorder Examination (IPDE) and the Derogatis Psychiatric Rating Scale (DPRS). Only those with a psychiatric diagnosis were retained in the analyses. The two groups of patients were compared in relation to their socio-demographic characteristics, their diagnoses and their scores on the DPRS symptom dimensions. Results. In comparison to the majority group, Roma patients were younger, more often women, less educated, married, parents of more children, without social security coverage; The Roma group had higher scores on many DPRS symptom dimensions such as somatisation, hostility, sleep disturbance, phobic anxiety, psychoticism, psychomotor retardation, hysterical behaviour and abjection–disinterest. In addition, Roma women presented psychotic and bipolar disorders less often than the majority group women. Symptoms did not differ by ethnic group for those seeking medical certification. Conclusion. Roma patients face serious social problems and show greater levels of symptoms than the majority group. The limitations of this include that the sample was not representative of the general psychiatric patient population and language, as well as other cultural and educational barriers, might have obscured important aspects of the Roma people's psychopathology.

DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population

Due to endogamy, the Roma have a higher risk for autosomal recessive (AR) disorders. We used homozygosity mapping on single-nucleotide polymorphism chips in one Czech Roma consanguineous family with non-syndromic hearing loss (NSHL). The second largest homozygous region in a deaf patient was mapped to the previously reported DFNB49 region. The MARVELD2 gene was recently reported as a causal gene for NSHL DFNB49. Sequencing of the MARVELD2 gene revealed a previously reported homozygous mutation c.1331+2 T>C (IVS4 + 2 T>C) in the deaf child. Subsequently, the same mutation was found in two more Roma families from an additional 19 unrelated Czech Roma patients with deafness tested for the MARVELD2 gene. To explore the importance of MARVELD2 mutations and DFNB49 for the general Czech and Central European population with early hearing loss we also tested 40 unrelated Czech patients with AR NSHL. No pathogenic mutation in the MARVELD2 gene was found in a group of 40 Czech non-Roma patients. Mutations in the MARVELD2 gene seem to be a significant cause of early NSHL in Czech Roma and this gene should be tested in this group of patients after GJB2.

Roma ethnicity and clinical outcomes in kidney transplant recipients

Racial and ethnic disparities among North American patients with chronic kidney disease have received significant attention. In contrast, little is known about health-related outcomes of patients with end-stage renal disease among the Roma minority, also known as gypsies, compared to Caucasian individuals. We prospectively assessed the association between Roma ethnicity and long-term clinical outcomes in kidney transplant recipients. In a prevalent cohort of renal transplant recipients, followed up over a median of 94 months, we prospectively collected socio-demographic, medical (and transplant related) characteristics and laboratory data at baseline from 60 Roma and 1,003 Caucasian patients (mean age 45 (SD = 11) and 49 (SD = 13) years, 33 and 41% women, 18 and 17% with diabetes mellitus, respectively). Survival analyses examined the associations between Roma ethnicity and all-cause mortality and death-censored graft loss or death with functioning renal allograft. During the follow-up period, 341 patients (32%) died. Two-hundred eighty (26%) patients died with a functioning graft and 201 patients (19%) returned to dialysis. After multivariable adjustments, Roma ethnicity was associated with 77% higher risk of all-cause mortality (Hazard Ratio (HR): 1.77; 95% confidence interval (CI): 1.02, 3.07), two times higher risk of mortality with functioning graft (2.04 [1.17-3.55]) and 77% higher risk of graft loss (1.77 [1.01-3.13]), respectively. Roma ethnicity is independently associated with increased mortality risk and worse graft outcome in kidney transplant recipients. Further studies should identify the factors contributing to worse outcomes among Roma patients.

Erratum to: Risk factors and severity of obstructive sleep apnoea in central European Roma and non-Roma patients referred for a diagnostic polysomnography

Erratum to: Risk factors and severity of obstructive sleep apnoea in central European Roma and non-Roma patients referred for a diagnostic polysomnography

Psychosocial factors of coronary heart disease and quality of life among Roma coronary patients: a study matched by socioeconomic position

The aim of this study was to assess whether psychosocial factors and health-related quality of life (HRQL) differ between Roma and non-Roma coronary patients and to what degree socioeconomic status (SES) explains these differences. We included 138 patients out of 437 interviewed: 46 Roma, all with low SES, 46 non-Roma with low SES, and 46 non-Roma with high SES. Groups were matched for age, gender and education. The GHQ-28 was used for measuring psychological well-being, the Maastricht interview for vital exhaustion, the type D questionnaire and the Cook-Medley scale for personality and the SF-36 for HRQL. SES was indicated by income and education, and disease severity by ejection fraction. ANOVA and linear regression were used. Roma scored poorly compared to non-Roma in psychological well-being, vital exhaustion and HRQL (p≤0.001); however, these differences could be to a substantial extent explained by SES. With regard to personality traits, ethnicity and SES played a less significant role. The adverse quality of life among Roma coronary patients may warrant additional care, which should target their low SES but also other factors related to their ethnic background, such as culture and living conditions.

“CEM” risk factors and severity of obstructive sleep apnoea in central European Roma and non-Roma patients referred for a diagnostic polysomnography

Obesity and metabolic syndrome are common among Roma subjects in Slovakia. We hypothesised that Roma subjects are at high risk to suffer from severe obstructive sleep apnoea (OSA). 137 non-Roma and 23 Roma subjects referred for a diagnostic polysomnography were consecutively recruited. Overnight polysomnography, anthropometric variables and standard biochemical analyses were analysed. Obstructive sleep apnoea was diagnosed in 91% Roma and 65% non-Roma subjects (p<0.001). Roma subjects had higher apnoea-hypopnoea index (AHI) (61.2±7.9 vs. 22.8±2.3 events/h, p<0.001), lower dip oxygen saturation (56.7±4.9 vs. 79.3±1.3%, p<0.001), and higher waist circumference as compared to non-Roma subjects (121.3±3.1 vs. 105.2±2.4cm, p<0.001). In multiple regression analysis, Roma background (p<0.001) and waist circumference (p<0.001) were independent predictors of AHI (R (2)=0.330). Roma background was associated with significantly higher risk of severe OSA (odds ratio 3.73; 95% confidence interval 1.20-11.65, p=0.023), independently of age, gender and waist circumference. Among subjects referred for polysomnography, Roma background is associated with significantly higher risk of severe OSA. Knowledge of common OSA pattern in Roma patients may help in identifying high risk individuals and guide early therapy of this disease.

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

The neuronal ceroid lipofuscinoses (NCLs), the most common neurodegenerative disorders of childhood, are characterized by the accumulation of autofluorescent storage material mainly in neurons. Although clinically rather uniform, variant late-infantile onset NCL (vLINCL) is genetically heterogeneous with four major underlying genes identified so far. We evaluated the genetic background underlying vLINCL in 119 patients, and specifically analysed the recently reported CLN7/MFSD8 gene for mutations in 80 patients. Clinical data were collected from the CLN7/MFSD8 mutation positive patients. Eight novel CLN7/MFSD8 mutations and seven novel mutations in the CLN1/PPT1, CLN2/TPP1, CLN5, CLN6 and CLN8 genes were identified in patients of various ethnic origins. A significant group of Roma patients originating from the former Czechoslovakia was shown to bear the c.881C>A (p.Thr294Lys) mutation in CLN7/MFSD8, possibly due to a founder effect. With one exception, the CLN7/MFSD8 mutation positive patients present a phenotype indistinguishable from the other vLINCL forms. In one patient with an in-frame amino acid substitution mutation in CLN7/MFSD8, the disease onset was later and the disease course less aggressive than in variant late-infantile NCL. Our findings raise the total number of CLN7/MFSD8 mutations to 14 with the majority of families having private mutations. Our study confirms that CLN7/MFSD8 defects are not restricted to the Turkish population, as initially anticipated, but are a relatively common cause of NCL in different populations. CLN7/MFSD8 should be considered a diagnostic alternative not only in variant late-infantile but also later onset NCL forms with a more protracted disease course. A significant number of NCL patients in Turkey exist, in which the underlying genetic defect remains to be determined.

The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.

Galactokinase deficiency is an inborn error of metabolism that, if untreated, results in the development of cataracts in the first weeks of life. The disorder is rare worldwide, but has a high incidence among the Roma (Gypsies). In 1999, we reported the founder Romani mutation, P28T, identified in affected families from Bulgaria. Subsequent studies have detected the same mutation in Romani patients from different European countries. The screening of 803 unrelated control individuals of Romani ethnicity from Bulgaria, Hungary, and Spain has shown an overall carrier rate of 1:47 and an expected incidence of affected births about 1:10,000. Using disease haplotype analysis, the age of the P28T mutation was estimated at 750 y, preceding the splits of the proto-Roma into the numerous populations resident in Europe today. The findings suggest that the mutation has spread with the early diaspora of the Roma throughout Europe. Superimposed on this old distribution pattern is the new migration wave of the last decade, with large numbers of Roma moving to Western Europe as a result of the economic changes in the East and the wars in former Yugoslavia. The changing demographic pattern of Romani minorities can be expected to lead to a homogenization of the incidence of "private" Romani disorders and founder mutations. The P28T mutation is thus likely to account for a high proportion of galactokinase deficiency cases across Europe. Mutation-based pilot newborn screening programs would provide current incidence figures and help to design long-term prevention of infantile cataracts due to galactokinase deficiency.