ISSN (print): 2068-8040
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GENETICS OF HUMAN POPULATIONS: AN ISOLATED COMMUNITYRECENTLY CLASSIFIED WITH PSYCHIC, NEUROLOGIC AND MALFORMATION DISORDERS
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Continuing studies on human genetics begun in 1963-1964, in which we described populations with the characteristics of isolated communities,having major coeffi cients of endogamy and consanguinity, we present the population from a neighbourhood of B. in Caraş-Severin County. Th epresent study started in 2013 and is still going on (2017). We refer to a compact Indo-European micro-population of Roma ethnicity (Gypsy) Inpatientwhere unions are made between relatives, resulting in an increased percentage of Autosomal Dominant (AD) and Autosomal Recessive (AR) pathology. Inthe studied population, the casuistry of AD and AR cognitive delays, neuromuscular AR pathology in co-morbidity with microcephaly predominate – thelatter being an association that has not been identifi ed in Sensory-Motor Neuropathy (SMN) yet. Th ere are cases of craniofacial malformations, aniridiaAO, deaf-muteness, labio-palate malformations. Consulting and establishing diagnoses will help to know the health of this population and to establishappropriate medical and genetic counselling.
By d efinition, a group of people with a small number of ancestors, living in conditions of ethnic, geographical and socio-cultural isolation, constitute an isolated human community (Hanhart). The conditions for establishing an isolated human community are met by the existence of consanguineous unions and the organization in at least five generations. Groups of isolated populations are also known in large metropolitan areas, too. In the Roma population from Magura neighbourhood, fertility is prolific, with families with 5, 6 or 8 children on the record.
Our descriptions refer to a community in Caraş-Severin County, North of 45th parallel, in the Dognecei Mountains (Banat). The industrial development of this locality corresponds to the beginning of the metallurgy in the years 1719-1720 and the commissioning of the first iron ore melting furnace in 1725. At the beginning of the 19th century the colony Măgura was established, a neighbourhood of Roma so called “rudari” (miners) and blacksmiths.
Demograph y: According to the 2012 census, town B. has 15,840 inhabitants, of which 3.40% are Roma ethnics, i.e. about 640 inhabitants. This Indo-European population settled in the Măgura mountain district in the years 1925-1926, being a stable, compact population but with some demographic oscillations ranging from 3.40% to 4.06% along the years, that is between 640-656 inhabitants. The isolation feature of this community is due to the small number of founders, to endogamous and consanguineous marriages, belonging to the culture specific to this ethnicity, geographic position in a mountainous area and linguistic peculiarities such as dialect or jargon.
The 128 children and adolescents with genetic, psychological, neurological and malformation problems are on the record following the consultations requested by the parents and represent 19.05% of the Roma population in the Măgura neighbourhood. We estimate that the actual figure is different because our statistics does not include all cases of adolescents with adaptation, behavioural, schooling disorders and their refusal of medical consultation.
Due to the lack of jobs in the area, the Roma population is poor and sub-cultural. According to the records of the family doctors’ offices, the diagnoses established by the specialists refer to:
• AD Mild and moderate mental retardation;
• Mental retardation due to pre-, intra- or post natal brain disorders, as well as AR ones;
• Psychic disorders of adaptation, behavioural disorders, negativism, school refusal and abandonment, Autism spectrum disorder (ASD), pre-psychotic states
and mental retardation psychoses;
• Different degrees of spoken language deficiency: alalysis, speech retardation, dyslogies; disorders of the written language: agraphia and disgraphia;
• Arrhythmic calculus disorders: acalculia, severe discalculia;
• Severe reading disorders: alexia, dyslexia. All these instrumental disturbances place the children in the “unable-to-attend-school” category. These disorders of the communication tools are also present in previous generations, also unschooled, thus having AD transmission. Knowing the psychological disabilities of minors in Magura, there are special school units in town B: a kindergarten and an auxiliary school where students receive free courses and transport. Attendance in these courses is oscillating, absenteeism being predominant;
• Diagnostics of epilepsy in children-adolescents: there are 11 cases (7 boys and 4 girls) that we have diagnosed with familial grand mal epilepsy, epilepsy with mental retardation and microcephaly;
• Neuromuscular pathology is represented by familial myasthenia and the Sensory-Motor Neuropathy specific to the Roma ethnicity, present in 3 boys and 4 girls, associated with five of these cases with microcephaly, one of the boys also having a depression. Children and adolescents of the seven cases of neuropathy come from consanguineous parents and grandparents;
• It is important to note the disturbances in the autistic spectrum ASD (Autistic Spectrum Disorders) present in three boys and two girls; Pre-psychotic disorders: Three adolescent boys with mental retardation who could not be schooled;
• Sleep pathology is of AD type: family nocturnal pavour in five cases and enuresis in four boys;
• In the examined families, we identified genetic aspects in three cases of poly-ectrodactyly and labio- buco-palatal malformations as follows: two boys with labyrinth-palatal dehiscence and palatal torus forms in 12 cases;
• Dental agenesis with deficit of implant, dentinogenesis imperfecta of the enamel and dentin;
• Familial AO aniridia, congenital AO cataract, AO epicanthus, all of them in 2-5 cases;
• Endocrine disorders: 4 boys with testicular agenesis and 4 with cryptorchidism. Early installation of menstrual cycles in 4 girls.
We assign a sm all and compact group of population from the South-West of Romania, to the anthropological- medical category of isolated human community, where we have found the increased coefficient of endogamy and consanguinity. Medical and genetic studies have been carried out in children and adolescents since 2013 onward, establishing the existence of AD and AR pathology. In the studied group the predominating diagnoses are: cognitive delays and sensory-motor neuropathy specific to the Roma ethnic group.
We will continue the medical anthropological studies in this population group in order to be useful to the group and to introduce counselling and genetic advice. Our findings may be useful to local authorities and county decision-makers.