Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues

Albinism is an inherited condition associated with significant depigmentation of the skin, hair and eyes. It occurs in every population with varying frequency, and narratives of people with albinism have been recorded since 200 BC. In southern Africa albinism is common, about 1 in 4000 people are affected, but it remains a poorly understood condition surrounded by myths and superstition. This article provides a historical background on oculocutaneous albinism (OCA) in southern Africa and presents relevant information from the literature regarding epidemiology, genetics and genetic counselling, health, psychosocial and cultural issues, and medical care. There are several recessively inherited types of OCA and a mutation, responsible for about 80%of South African variants, has been identified in OCA type 2. The physical characteristics associated with albinism, that is, sun-sensitive skin and low vision, can be managed. However, people with OCA in Africa also experience psychosocial issues, such as discrimination, because of the various superstitious beliefs and attitudes held in the community. Management should include medical care for health problems, appropriate adjustment of the schooling context and genetic counseling. In addition, widespread public awareness programs are required to increase the knowledge of the genetic causes of OCA and of the nature of genetic counselling, to address the negative attitudes in the community, to reduce the marginalization and stigmatization of people with albinism and to improve their quality of life.

Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues

Albinism is an inherited condition associated with significant depigmentation of the skin, hair and eyes. It occurs in every population with varying frequency, and narratives of people with albinism have been recorded since 200 BC. In southern Africa albinism is common, about 1 in 4000 people are affected, but it remains a poorly understood condition surrounded by myths and superstition. This article provides a historical background on oculocutaneous albinism (OCA) in southern Africa and presents relevant information from the literature regarding epidemiology, genetics and genetic counselling, health, psychosocial and cultural issues, and medical care. There are several recessively inherited types of OCA and a mutation, responsible for about 80%of South African variants, has been identified in OCA type 2. The physical characteristics associated with albinism, that is, sun-sensitive skin and low vision, can be managed. However, people with OCA in Africa also experience psychosocial issues, such as discrimination, because of the various superstitious beliefs and attitudes held in the community. Management should include medical care for health problems, appropriate adjustment of the schooling context and genetic counseling. In addition, widespread public awareness programmes are required to increase the knowledge of the genetic causes of OCA and of the nature of genetic counselling, to address the negative attitudes in the community, to reduce the marginalisation and stigmatization of people with albinism and to improve their quality of life

Giving Body to the Body: Predictive Genetic Testing and Self-desomatization / Darle cuerpo al cuerpo: pruebas genéticas predictivas y autodesomatización / Dar corpo ao corpo: testes genéticos preditivos e autodesomatização

Abstract Genetics test in predictive medicine seems to take charge of the uniqueness of any human being. Unlike preventive medicine it moves from the theoretical assumption of the knowledge of a specific individual's genetic structure and potential fragility. However, the attention paid to the gene risks placing the living and experienced body in the shadow. Sometimes, "genetic news" can make the subject in the present act like a sick person without being so, read every event in that direction, and, ultimately, fulfill the prophecy. The article goes beyond the alleged non-exceptionalism of genetic data and discusses the symbolic value that the gene has assumed and its role in reflexivity and self-perception.

Resumen Las pruebas genéticas en la medicina predictiva parecen encargarse de la singularidad del ser humano, a diferencia de la medicina preventiva parte del supuesto teórico del conocimiento de la estructura genética y de la fragilidad potencial de un individuo específico. Sin embargo, la atención que se presta al dato genético tiene el riesgo ensombrecer el cuerpo vívido y la experiencia en primera persona. En ocasiones, las "noticias genéticas" pueden llevar al sujeto en el presente a actuar como un enfermo sin serlo, a leer cada evento en ese sentido y, por último, a cumplir la predicción. El artículo va más allá de la supuesta no excepcionalidad de los datos genéticos y analiza el valor simbólico que ha asumido el gen y su papel en la reflexividad y la autopercepción.

Resumo Os testes genéticos em medicina preditiva parecem se responsabilizar pela singularidade de qualquer ser humano, enquanto a medicina preventiva se move a partir do suposto teórico do conhecimento da estrutura genética e da fragilidade potencial de um indivíduo específico. Contudo, a atenção prestada ao dado genético está arriscada a agravar o corpo vívido e a experiência em primeira pessoa. Em ocasiões, as "notícias genéticas" podem levar o sujeito no presente a atuar como um doente sem ser isso, a ler cada evento nesse sentido e, definitivamente, a cumprir o predito. Este artigo vai mais além da suposta não excepcionalidade dos dados genéticos e analisa o valor simbólico que o gene assume e seu papel na reflexividade e na autopercepção.

Diabetes gestacional: necesidad del asesoramiento genético preconcepcional en Matanzas / Gestational diabetes: need for preconception genetic counseling in Matanzas

RESUMEN Introducción: muchas gestantes que se atienden en consulta de Genética prenatal provienen de familias con diabetes mellitus y desarrollan diabetes gestacional, por lo que requieren el asesoramiento genético preconcepcional sobre factores de riesgo, que en muchos casos no reciben. Objetivo: identificar los antecedentes familiares de diabetes mellitus en las gestantes que debutan con diabetes gestacional, sin haber tenido asesoramiento genético preconcepcional. Materiales y métodos: se realizó un estudio descriptivo retrospectivo durante el período 2017 a 2019 en 186 embarazadas diagnosticadas con diabetes gestacional, del municipio Matanzas. Resultados: el 39,7 % de las gestantes con diabetes gestacional pertenecían a familias con diabetes mellitus; el 27,02 % tenía un familiar de primer grado afectado; en el 59,45 % predominó la vía materna de transmisión hereditaria; un 22,58 % presentó defectos congénitos, y el 54,05 % no recibió asesoramiento genético preconcepcional. Conclusiones: no todas las embarazadas con antecedentes familiares de diabetes mellitus recibieron asesoramiento genético preconcepcional, indispensable para minimizar el riesgo de diabetes gestacional (AU).

ABSTRACT Introduction: many pregnant women attended in prenatal genetic consultation come from families with diabetes mellitus and develop gestational diabetes, so they require preconception genetic counseling on risk factors, which they do not receive in many cases. Objective: to identify family antecedents of diabetes mellitus in pregnant women who debut with gestational diabetes, without having received preconceptional genetic counseling. Materials and methods: a retrospective descriptive study was carried out during the period 2017 to 2019 in 186 pregnant women from the municipality of Matanzas, diagnosed with gestational diabetes. Results: 39.7 % of the pregnant with gestational diabetes came from families with diabetes mellitus; 27.02 % of them had an affected first-grade relative; maternal hereditary transmission predominated in 59.45 %; 22.58 % presented congenital defects, and 54.05 % did not received preconceptional genetic counseling. Conclusions: not all the pregnant women with family antecedents of diabetes mellitus received preconceptional genetic counseling, which is essential to minimize the risk of gestational diabetes (AU).

Cromosoma 13 en anillo / Ring chromosome 13

Resumen Introducción: El cromosoma 13 en anillo es una alteración citogenética infrecuente, clínicamente caracterizada por presentar retraso del crecimiento, del desarrollo psicomotor y déficit cognitivo, además de microcefalia, dismorfia facial, alteraciones genitales e hipoplasia del pulgar. Caso clínico: Paciente de 8 meses de edad evaluado por presentar talla baja, retraso del desarrollo psicomotor, microcefalia, dismorfia facial, hipospadias peneoescrotales e hipoplasia de pulgar. Se evidenció lisencefalia, hipoacusia neuroconductiva del lado derecho y comunicación interauricular tipo ostium secundum pequeña. El estudio citogenético del paciente mostró 46, XY, r (13) en 30 células analizadas. Conclusiones: Se resaltan los hallazgos clínicos que pueden orientar el diagnóstico de esta alteración cromosómica estructural infrecuente, destacando, además, la evaluación médica interdisciplinaria requerida y el adecuado asesoramiento genético familiar.

Abstract Background: Ring chromosome 13 is an infrequent cytogenetic disorder clinically characterized by growth and psychomotor development retardation, cognitive deficit, microcephaly, facial dysmorphism, genital alterations and thumb hypoplasia. Case report: A 8-month-old patient was evaluated for presenting short stature, psychomotor development delay, microcephaly, facial dysmorphism, penoscrotal hypospadias and thumb hypoplasia. Lissencephaly, neuroconductive hearing loss on the right side and small ostium secundum interatrial communication were evident. The cytogenetic study of the patient showed 46, XY, r (13) in 30 cells analyzed. Conclusions: Clinical findings that can guide the diagnosis of this infrequent structural chromosomal alteration are highlighted, as well as the interdisciplinary medical evaluation required and adequate family genetic counseling.

Consensus Statement of the Indian Academy of Pediatrics on Diagnosis and Management of Fragile X Syndrome in India

Justification:Fragile X Syndrome (FXS) is the most common genetic cause of inherited intellectual disability and autism spectrumdisorder (ASD). Early identification results in appropriate management and improvement in functioning. Risk assessment in other familymembers can lead to prevention of the disorder. This necessitated the formulation of IAP recommendations for the diagnosis andmanagement of FXS in Indian children and adolescents.Process:The meeting on formulation of national consensus guidelines on Fragile X syndrome was organized by the Indian Academy ofPediatrics in New Delhi on 25th February, 2017. The invited experts included Pediatricians, Developmental Pediatricians, Psychiatrists,Pediatric Neurologists, Gynecologists, Geneticists, Clinical Psychologists and Remedial Educators, and representatives of ParentOrganizations. Guidelines were framed after extensive discussions. A writing committee was formed that drafted the manuscript,which was circulated among members for critical appraisal, and finalized.Recommendations: The committee recommended that early diagnosis of FXS is crucial for early, timely and appropriatemanagement. The interventions including timely occupational therapy, speech therapy and behavioral modifications help to improve thedevelopmental potential and reduce the maladaptive behavior. Pharmacotherapy may be needed to control and improve behavioralsymptoms. In addition, the emergence of targeted treatments such as low dose sertraline, metformin and /or minocycline may also behelpful for behavior, and perhaps cognition. Genetic counselling is helpful to communicate the risk for future children with FXS orpermutation involvement.

Diagnosis and Management of Gaucher Disease in India – Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics

Justification: Gaucher disease (GD) is amongst the most frequently occurring lysosomal storage disorder in all ethnicities. The clinicalmanifestations and natural history of GD is highly heterogeneous with extreme geographic and ethnic variations. The literature on GD haspaucity of information and optimal management guidelines for Indian patients.Process: Gaucher Disease Task Force was formed under the auspices of the Society for Indian Academy of Medical Genetics. Invitedexperts from various specialties formulated guidelines for the management of patients with GD. A writing committee was formed andthe draft guidelines were circulated by email to all members for comments and inputs. The guidelines were finalized in December 2016at the annual meeting of the Indian Academy of Medical Genetics.Objectives: These guidelines are intended to serve as a standard framework for treating physicians and the health care systems foroptimal management of Gaucher disease in India and to define unique needs of this patient population.Recommendations: Manifestations of GD are protean and a high index of suspicion is essential for timely diagnosis. Patients frequentlyexperience diagnostic delays during which severe irreversible complications occur. Leucocyte acid ?-glucosidase activity ismandatory for establishing the diagnosis of Gaucher disease; molecular testing can help identify patients at risk of neuronopathicdisease. Enzyme replacement therapy for type 1 and type 3 Gaucher disease is the standard of care. Best outcomes are achieved byearly initiation of therapy before onset of irreversible complications. However, in setting of progressive neurological symptoms such asseizures and or/ neuroregression, ERT is not recommended, as it cannot cross the blood brain barrier. The recommendations herein arefor diagnosis, for initiation of therapy, therapeutic goals, monitoring and follow up of patients. We highlight that prevention of recurrenceof the disease through genetic counseling and prenatal diagnosis is essential in India, due to uniformly severe phenotypes encounteredin our population

Korean Medication Algorithm for Bipolar Disorder 2018 : Safety and Tolerability / 우울ㆍ조울병

OBJECTIVES: Treatment for bipolar disorder is often complicated by various clinical situations. We undertook a survey of expert opinions to facilitate clinical decisions in special situations such as weight gain, metabolic syndrome, hyperprolactinemia, genetic counseling, and treatment adherence.METHODS: A written survey that asked treatment strategies related to safety and tolerability, was prepared focused on weight gain, antipsychotic related hyperprolactinemia, lamotrigine related skin rash, treatment non-adherence and genetic counseling. Sixty-one experts of the review committee completed the survey.RESULTS: In the case of weight gain related to medications, experts preferred exercise and education for diet-control. First chosen medications were lamotrigine, aripiprazole and ziprasidone. Recommendations based on expert survey results for treatment of bipolar patients in other special situations are outlined.CONCLUSION: With limitation of expert opinions, authors hope that results of this study provide valuable information to make clinical decisions about treatment of bipolar disorder in complicated situations.

Preconception genetic counselling in a Filipino couple with Family History of Trisomy 18

@#Preconception genetic counselling offers an opportunity for prospective parents to understand and adjust to the medical, familial, and psychosocial implications of genetic contributions to pregnancy outcomes. In this paper, we will illustrate how preconception genetic counselling made a difference to a Filipino couple with a previous child diagnosed with Trisomy 18.

Genetic Counselling in Anaemia & Thalassemia.

Objective: 1. To identify the common type of anaemia in our population and promote appropriate counselling for an effective plan of management & treatment. 2.To establish how thalassemia is diagnosed and assess type of counselling received among the thalassemic families and to provide appropriate Genetic Counselling. Method: Information was obtained from Anemic and Thalassemic patients to assess their awareness regarding their pathophysiology and assess what type of counselling they received, from different centres in Hyderabad, India. Result: It was found that after counselling, the patients and their attenders were more receptive to undergoing treatment for anaemia and genetic testing for thalassemia. Conclusion: Extended family screening, prenatal diagnosis and carrier testing should be explained and advised and the centres offering these tests should also be informed.

Fragile X Syndrome / Síndrome de X Frágil

Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named full mutation (greater than 200 CGG repeats), in the FMR1 gene locus Xq27.3; which leads to an hypermethylated region in the gene promoter therefore silencing it and lowering the expression levels of FMRP, a protein involved in synaptic plasticity and maturation. Individuals with FXS present with intellectual disability, autism, hyperactivity, long face, large or prominent ears and macroorchidism at puberty and thereafter. Most of the young children with FXS will present with language delay, sensory hyper arousal and anxiety. Girls are less affected than boys, only 25% have intellectual disability. Given the genomic features of the syndrome, there are patients with a number of triplet repeats between 55 and 200, known as premutation (PM) carriers. Most carriers have a normal IQ but some have developmental problems. The diagnosis of FXS has evolved from karyotype with special culture medium, to molecular techniques that are more sensitive and specific including PCR and Southern Blot. During the last decade, the advances in the knowledge of FXS, has led to the development of investigations on pharmaceutical management or targeted treatments for FXS. Minocycline and sertraline have shown efficacy in children.

El Síndrome de X Frágil (SXF), es una enfermedad genética debida a una expansión del trinucleótido CGG, nombrada mutación completa (más de 200 repeticiones de CGG) en el gen FMR1, locus Xq27.3; la cual lleva a una hipermetilación de la región promotora del gen, silenciándolo y disminuyendo los niveles de expresión de la proteína FMRP relacionada con la plasticidad y maduración neuronal. Los individuos con SXF presentan retardo mental, autismo, hiperactividad, cara alargada, orejas grandes o prominentes y macroorquidismo desde la pubertad. La mayoría de niños con SXF presentan retraso en el lenguaje, hiperactivación sensorial y ansiedad. Las niñas se afectan menos que los varones, solo el 25% presenta retardo mental. Dadas las características genómicas del síndrome, existen pacientes con un número de repetición de la tripleta entre 55 y 200 que se denominan portadores de la premutación. La mayoría de los portadores tienen un coeficiente intelectual normal, pero presentan problemas en el desarrollo. El diagnóstico en SXF ha evolucionado del cariotipo con medio especial de cultivo, a pruebas moleculares más sensibles y específicas incluyendo PCR y Southern blot. Durante la última década, los avances en el conocimiento sobre el SXF han permitido el desarrollo de investigaciones sobre el manejo farmacológico o tratamientos específicos para el SXF. La minociclina y la sertralina han demostrado eficacia en niños.

Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II

Introduction: Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal disorder caused by deficiency of iduronate-2-sulfatase (IDS). In this study, we proposed a new protocol for prenatal diagnosis, using DNA obtained from amniotic fluid cells that did not attach to the bottom of the culture flask after the first medium change. Methods: Four pregnant MPS II carriers were referred to the Medical Genetics Service of Hospital de Clinicas de Porto Alegre for a prenatal diagnosis and identification of the disease, which were performed by polymerase chain reaction (PCR) amplification, restriction fragment length polymorphism, and sequencing according to the mutation previously found in the family. Results: The analysis indicated the absence of mutation in three fetal materials and the presence of mutation in one case. Concomitantly, cytogenetic and biochemical analyses were performed after 12 days of cell culture, and only one case showed absence of enzyme activity, confirming the molecular analysis. Conclusions: This diagnostic protocol designed to provide more robust results and safer genetic counseling suggests that DNA obtained from floating amniotic fluid cells can be used as a source of fetal material to allow a faster alternative for prenatal care through molecular analysis. Determination of IDS gene mutation in fetal amniotic fluid cells together with IDS enzyme activity testing is a rapid, sensitive and accurate method for prenatal diagnosis of MPS II for high-risk pregnant women.

Korean Medication Algorithm for Bipolar Disorder 2014: Safety and Tolerability / 대한정신약물학회지

OBJECTIVE: The complexity of the treatment for bipolar disorder is often caused by the presence of side effects of various psychiatric medications. In particular, weight gain and metabolic syndrome are currently major concerns in the medication for bipolar disorders. Therefore, we undertook a survey of expert opinion to help make clinical decisions in these special situations. METHODS: A written survey which asked about treatment strategies in the safety and tolerability was prepared; 1) weight gain, 2) antipsychotic related hyperprolactinemia, 3) lamotrigine related skin rash, 4) treatment non-adherence, and 5) genetic counselling. Treatment options were scored using a 9-point scale for rating appropriateness of clinical decisions in some issues. In other issues, experts were asked to choose to determine the ranking of preferences on the list. Sixty-four experts of the review committee completed the survey. We classified the expert opinions about preferences by chi2 test. RESULTS: Experts preferred behavioral and diet modification for weight gain, switching to prolactin-sparing-antipsychotics for antipsychotic-induced hyperprolactinemia, reducing dose of lamotrigene for its related benign skin rash, and prescribing once a day for treatment adherence. CONCLUSION: With the limitation of expert opinion, authors hope that the results of this study provide valuable information to make clinical decision about the treatment of bipolar disorder in the complicated situations.

Premisas éticas en el diagnóstico prenatal de defectos congénitos en Cuba / Ethical premises in the prenatal diagnosis of congenital defects in Cuba

El propósito de este trabajo es presentar una propuesta de premisas éticas para la práctica del diagnóstico prenatal de defectos congénitos. Se realizó un estudio sistemático, profundo y crítico sobre el tema y sobre los resultados de investigaciones realizadas en población cubana y los derivados de talleres realizados con la participación de especialistas de la Red Nacional de Genética Médica; para su elaboración se tuvieron en cuenta los principios éticos más universalmente aceptados y recomendados por la OMS y otros organismos internacionales, así como las resoluciones y leyes cubanas relacionadas con este tema. Se presentan normativas generales, sobre el diagnóstico prenatal y el aborto selectivo, el asesoramiento genético y el revelado de información; esta propuesta se complementa con otras normativas propias de la investigación científica y relacionadas con el consentimiento informado, las investigaciones que involucran pacientes, aspectos de la ética profesional y de las publicaciones científicas. Estas normativas en su conjunto conforman las premisas éticas que garantizan el respeto a los derechos y a la dignidad de las personas que son atendidas en los servicios de asesoramiento genético y diagnóstico prenatal y formarán parte de un manual para la provisión de servicios en la red de genética médica de Cuba

The objective of this paper was to submit a proposal of ethical premises for prenatal diagnosis of congenital defects. An in-depth systematic and critical study was conducted on the topic and on the results of research works carried out with the Cuban population and those of workshops where the National Network of Medical Genetics experts participated. For their preparation, the universally accepted ethical principles that are recommended by WHO and other international bodies, as well as the Cuban resolutions and laws in this regard were all taken into account. Some general standards on prenatal diagnosis and selective abortion and on the approach to genetic counseling and the disclosure of information were presented. This proposal was supplemented with other standards inherent to the scientific research, since during prenatal diagnosis practice, some research works can emerge, the results of which may be published, that is, informed consent, research involving patients, ethical aspects of scientific publications and professional ethics elements. These standards are the ethical premises that guarantee the respect to the rights and to the dignity of those persons who are served by the genetic counselling and prenatal diagnosis services, and will be part of a manual for the provision of services in the medical genetic network of Cuba

Indicadores de efectividad del asesoramiento genético / Indicators for the effectiveness of genetic counselling

Se realizó un estudio descriptivo, de corte transversal, y el análisis de los indicadores del programa de genética del municipio Pinar del Río, en los períodos comprendidos entre los años 2003-2005 y 2006-2008. Se seleccionó mediante un muestreo no probabilístico, 50 familias que fueron atendidas en los servicios de genética por diversos motivos. Se les aplicó mediante una entrevista una serie de instrumentos para evaluar el comportamiento de las variables relacionadas con la efectividad del asesoramiento genético, el aborto selectivo, y la opinión sobre las funciones de los servicios de genética, entre otras. El trabajo recogió un alto porcentaje en la calificación de bueno en el nivel de conocimientos, que miden la efectividad de la asesoría genética, un gran porciento justifica el aborto por motivaciones sociales o éticas, y resultó considerado como muy prioritario, el ofrecer estudios prenatales a las parejas con riesgos de tener hijos con enfermedades genéticas.

A descriptive, cross-sectional study and the analysis of indicators for effectiveness were conducted in Pinar del Rio municipality during the periods of 2003-2005 and 2006-2008. Fifty (50) families attending to genetic services for several reasons were chosen by a non-probabilistic sampling. An interview that comprised a series of tools to evaluate the behavior of the variables associated with the effectiveness of genetic counselling was carried out considering, elective abortion as well as opinions about genetic center services, among others. This study showed a high percentage in qualifying the level of knowledge as good, which assessed the effectiveness of genetic counselling, a great proportion justified abortion expressing social or ethical motivations, they as well considered prenatal studies for couples with risks of having children suffering from genetic diseases, as a priority.

Doenças hereditárias, aconselhamento genético e redes familiares e sociais: da ética intergeracional ao papel dosmais velhos / Hereditary illnesses, genetic counselling and family and social networks: from intergenerational ethics to the role of the elderly

Este artigo de revisão da literatura centra tópicos relevantes na investigação e intervenção em redes familiares e sociais no âmbito do aconselhamento genético. Foca o papel dos familiares mais idosos na gestão psicossocial do risco genético a doenças hereditárias (particularmente, cancros hereditários) e suas implicações no aconselhamento genético, nomeadamente apoio social e comunicação intrafamiliar sobre o risco genético.

This paper presents a literature review on research and intervention in family and social networks in the scope of genetic counselling. It addresses the role of the oldest family members in the psychosocial adaptation to genetic risk for hereditary illnesses in the family (particularly to hereditary cancers) and its implications for genetic counselling, namely social support and the intrafamilial communication of genetic risk.

Deficiencias visuales en 13 niños: diagnósticos, causas y asesoramiento genético / Visual deficiencies in 13 children: diagnosis, causes and genetic counselling

La alteración de algunas de las estructuras del ojo es capaz de producir deficiencias visuales y éstas pueden ser leves, moderadas o severas, de origen genético o de origen ambiental. El déficit visual severo es discapacitante para un niño y las patologías asociadas aumentan sus limitaciones y la dependencia. El asesoramiento genético y las medidas preventivas están orientados a ayudar a los padres a tener un hijo sano. OBJETIVOS: Determinar los diagnósticos y las causas genéticas o ambientales de las deficiencias visuales en 13 niños, así como el asesoramiento genético dado a las madres o parejas. MÉTODOS: Estudio retrospectivo y descriptivo. Revisión de las historias médicas de todos los 13 niños con deficiencias visuales y las madres o parejas atendidos en la Consulta de Diagnóstico y Asesoramiento Genético, Medicina Física y Rehabilitación, Hospital Universitario “Dr. Antonio M. Pineda”, Barquisimeto, marzo 2007 a noviembre 2008. RESULTADOS: 8 varones y 5 hembras. En nuestra primera consulta, la edad promedio de los pacientes fue 4 años 10 meses. La edad promedio de las madres, 30 años. Primigestas: 7/13. La edad promedio de los padres, 37 años. Cinco pacientes presentaron deficiencias visuales de causa genética: glaucoma congénito bilateral (2), retinoblastoma bilateral por neomutación (2) y retinoblastoma bilateral de origen paterno. las de causa ambiental se diagnosticaron en 8 pacientes, principalmente: retinopatía del prematuro, atrofia óptica, déficit visual cortical, corioretinitis y microftalmos. CONCLUSIONES: Muchas deficiencias visuales pueden prevenirse con el asesoramiento genético, medidas preventivas, buen control prenatal y óptima atención obstétrica y neonatal.

The alteration of some of the structures of the eye may produce visual deficiencies and these can be benign, moderate or severe, of genetic or environmental origin. The severe visual deficit is incapacitating for a child and the associated pathologies increase his limitations and dependency. Genetic counseling and preventive measures are intended to help the parents in having a healthy child. OBJECTIVES: To determine the diagnoses and the genetic or environmental causes of visual deficiencies in 13 children and the genetic counseling given to the mothers or couples. METHODS: This is a retrospective and descriptive study. We reviewed the medical records of all the 13 children with visual deficiencies and the mothers or couples who attended the Genetic Diagnosis and Counseling Clinic, Physical Medicine and Rehabilitation Service, University Hospital “Dr. Antonio M. Pineda”, in Barquisimeto, from March 2007 to November 2008. RESULTS: 8 males and 5 females. In our first consultation the average age of the patients was 4 years 10 months. The average age of the mothers was 30 years. First pregnancy: 7/13. The average age of the fathers was 37 years. Five patients had visual deficiencies of genetic causes: congenital bilateral glaucoma (2), bilateral retinoblastoma due to new mutation (2) and bilateral retinoblastoma of paternal origin. Those of environmental causes were diagnosed in 8 patients, mainly: retinopathy of the premature, optic atrophy, cortical visual deficit, chorioretinitis and microphtalmos. CONCLUSIONS: Many visual deficiencies can be prevented with genetic counseling, preventive measures, good prenatal control and optimum obstetric and neonatal care.

Genetic counselling in tribals in India.

Genetic counselling in tribals unlike general population residing in cities and near villages is a difficult task due of their lower literacy and poor socio-economic status. However, sustained effort is essential with a close interaction in the local language, certain misbeliefs need to be removed gradually taking into account their socio-cultural background. The present communication deals with our experience in counselling for haemoglobinopathies during Neonatal Screening Programme undertaken for sickle cell disease in Kalahandi district of Orissa and Community Screening Programmes in primitive tribes of India in four States viz. Orissa, Gujarat, Tamil Nadu and Maharashtra. Counselling during neonatal screening programme was very well accepted demonstrating the benefit to the small babies as regards the morbidity. Premarital marriage counselling was also accepted by them. The success rate as followed up for 5 years is almost 50 per cent, the limitation being long follow up. Genetic counselling in these areas has to be continuous to achieve success and therefore the need for setting up of permanent centres in the tribal areas in India.

Ethical issues in genetic counselling with special reference to haemoglobinopathies.

Genetic counselling is provided in places where genetic tests are carried out. The process involves pre-test counselling as well as post-test counselling to enable the individuals to face the situation and take appropriate decisions with the right frame of mind. Major ethical principles which govern the attitudes and actions of counsellors include: respect for patient autonomy, non-maleficence, beneficence, or taking action to help benefit others and prevent harm, both physical and mental, and justice, which requires that services be distributed fairly to those in need. Other moral issues include veracity, the duty to disclose information or to be truthful, and respect for patient confidentiality. Nondirective counselling, a hallmark of this profession, is in accordance with the principle of individual autonomy. High prevalence of haemoglobinopathies with availability of good and sensitive carrier detection tests and prenatal diagnostic techniques makes these good candidates for population screening of carriers along with genetic counselling for primary prevention of the disease. Screening of the extended family members of the affected child, high risk communities and general population screening including antenatal women are the main target groups for planning a Haemoglobinopathy control programme. A critical mass of trained genetic counsellors who have understanding of the ethical issues and its appropriate handling with the required sensitivity is needed in India.