RESUMEN
A WHO expert group recommends neonatal screening for alpha1-antitrypsin deficiency (alpha1ATD). Homozygous alpha1ATD PiZZ occurs in 1 in 5,000 of the U.S. Caucasian population and up to 1 in 500 individuals of the European population, with a large regional variation. It is a risk factor that predisposes mainly to liver disease in early infancy and emphysema in early adulthood. Most importantly, smoking decreases the duration of the asymptomatic phase and life expectancy by 10-20 y. The Swedish alpha1AT screening programme and subsequent information and advice prevented the majority of adolescents from starting to smoke. The involved parents and alpha1ATD adolescents retrospectively recommended neonatal screening. Potential advantages of neonatal alpha1AT screening are: early diagnosis and treatment of neonatal liver disease, optimal treatment of fever and bacterial infections theoretically preventing liver cell damage, genetic advice and information about the consequences of passive and active smoking. Potential advantages of postponing screening until age 11-12 y are: identification of alpha1ATD close to the age when smoking may start, and possibility for the child to take part in the screening decision. Disadvantages of alpha1AT screening are: psychosocial reactions-the mother probably being most vulnerable in the neonatal period-and discrimination by insurance companies and employers. Important uncertainties are: lack of knowledge concerning participation in a voluntary alpha1AT screening, psychosocial reactions and the efficacy of anti-smoking advice if the information is given to school-age children and families. Thus the question whether and when to screen for alpha1ATD is still the topic of lively debate.
Asunto(s)
Tamizaje Neonatal , Deficiencia de alfa 1-Antitripsina/diagnóstico , Adolescente , Factores de Edad , Niño , Preescolar , Humanos , Lactante , Recién Nacido , Esperanza de Vida , Tamizaje Masivo/psicología , Tamizaje Neonatal/psicología , Factores de Riesgo , Fumar/efectos adversos , Prevención del Hábito de Fumar , Suecia , Población Blanca , Deficiencia de alfa 1-Antitripsina/psicologíaRESUMEN
A WHO expert group recommends neonatal screening for alpha1-antitrypsin deficiency (alpha1ATD). Homozygous alpha1ATD PiZZ occurs in 1 in 5000 of the U.S. Caucasian population and up to 1 in 500 individuals of the European population, with a large regional variation. It is a risk factor that predisposes mainly to liver disease in early infancy and emphysema in early adulthood. Most importantly, smoking decreases the duration of the asymptomatic phase and life expectancy by 10-20 y. The Swedish alpha1AT screening programme and subsequent information and advice prevented the majority of adolescents from starting to smoke. The involved parents and alpha1ATD adolescents retrospectively recommended neonatal screening. Potential advantages of neonatal alpha1AT screening are: early diagnosis and treatment of neonatal liver disease, optimal treatment of fever and bacterial infections theoretically preventing liver cell damage, genetic advice and information about the consequences of passive and active smoking. Potential advantages of postponing screening until age 11-12y are: identification of alpha1ATD close to the age when smoking may start, and possibility for the child to take part in the screening decision. Disadvantages of alpha1AT screening are: psychosocial reactions--the mother probably being most vulnerable in the neonatal period--and discrimination by insurance companies and employers. Important uncertainties are: lack of knowledge concerning participation in a voluntary alpha1AT screening, psychosocial reactions and the efficacy of anti-smoking advice if the information is given to school-age children and families. Thus the question whether and when to screen for alpha1ATD is still the topic of lively debate.
Asunto(s)
Tamizaje Neonatal , Deficiencia de alfa 1-Antitripsina/diagnóstico , Adolescente , Factores de Edad , Enfisema/prevención & control , Guías como Asunto , Humanos , Recién Nacido , Enfermedades Pulmonares Obstructivas/prevención & control , Tamizaje Masivo , Tamizaje Neonatal/psicología , Tamizaje Neonatal/normas , Estudios Retrospectivos , Fumar/efectos adversos , Organización Mundial de la SaludRESUMEN
The aim of this study was to determine whether the frequency and quality of reported life events during the 6 months before pregnancy to mid-pregnancy influence gestational age at birth. Seventy nulliparous women were studied at 12 and 25 gestational weeks with a 64-item self-rated life event questionnaire developed for obstetric groups. Life events were categorised into eight psychosocial areas according to the diagnostic and statistic manual (DSM-III-R). The women rated each experienced event as strainful or not strainful. Gestational age was determined by ultrasound biometry before 20 gestational weeks. The number of life events during the following periods was recorded from 6 months before pregnancy to 12 gestational weeks, from 12 gestational weeks to 25 gestational weeks, from 6 months before pregnancy to 25 gestational weeks. No significant relationships were found between the number of reported life events and pregnancy duration. Life events in different psychosocial areas also did not influence gestational age at birth. A non-significant relationship (p = 0.06) was found between pregnancy duration and the number of strainful events reported from 6 months before pregnancy to 25 gestational weeks, shorter pregnancy duration being found in women reporting many strainful events. Our findings suggest that life events in general do not influence pregnancy duration. However, if they are perceived as strainful, pregnancy length tends to decrease.
Asunto(s)
Edad Gestacional , Acontecimientos que Cambian la Vida , Complicaciones del Embarazo/psicología , Calidad de Vida , Estrés Psicológico/psicología , Adulto , Femenino , Humanos , Embarazo , Primer Trimestre del Embarazo , Segundo Trimestre del Embarazo , Encuestas y Cuestionarios , Factores de Tiempo , Ultrasonografía PrenatalRESUMEN
During 1972-74, 200000 Swedish neonates were screened for alpha1-antitrypsin deficiency (alpha1ATD). The parents of the 22-23-y-old alpha1ATD children were asked about their views on the screening study, information and follow-up of their children as well as physical and psychosomatic problems, which were compared with a matched control (MC) group. Of the original 122 alpha1ATD and MC parents, 85 alpha1ATD and 89 MC parents decided to participate. The neonatal period was considered the best time for screening by 88% of the responding parents. The care of the alpha1ATD individuals was assessed as positive or very positive by 84% of the parents. About 70% of the parents thought that the awareness of their child's alpha1ATD had affected their lives, the most common comment being an increased consciousness of smoky and dusty environments. No significant difference between alpha1ATD and control parents was found concerning worry about the child's health and future. When asked about symptoms related to their mental health, no difference was found concerning headache, sleep problems, stomach troubles or tiredness. Alpha1ATD mothers had statistically significantly more anxiety than control mothers (chi2 p<0.01, Wilcoxon p<0.02). The knowledge derived from the present and previous parts of the alpha1AT screening study is important with regard to presymptomatic testing for adult-onset disease in children.
Asunto(s)
Ansiedad/etiología , Actitud Frente a la Salud , Costo de Enfermedad , Salud Mental , Tamizaje Neonatal , Padres/psicología , Deficiencia de alfa 1-Antitripsina/complicaciones , Deficiencia de alfa 1-Antitripsina/diagnóstico , Adaptación Psicológica , Adulto , Estudios de Casos y Controles , Femenino , Estudios de Seguimiento , Conocimientos, Actitudes y Práctica en Salud , Humanos , Masculino , Persona de Mediana Edad , Padres/educación , Encuestas y Cuestionarios , SueciaRESUMEN
The aim of this study was to investigate if fetal circulation is affected by maternal anxiety. 37 nulliparous women were studied prospectively in the third trimester of pregnancy, with self-rate tests of anxiety (STAI). Doppler ultrasound examination of the umbilical artery and fetal middle cerebral artery was performed at 37-40 gestational weeks. The pulsatility index (PI) was calculated and corrected for heart rate. The women were divided into groups of increasing levels of anxiety. The fetuses of women with high trait anxiety scores had significantly higher PI values in the umbilical artery (p = 0.0056), significantly lower PI values in the fetal middle cerebral artery (p = 0.0029) and significantly lower cerebro-umbilical PI ratios (p = 0.0002), suggesting a change in blood distribution in favor of brain circulation in the fetuses. Maternal weight, weight-increase, height, age, marital status, smoking habits, drinking habits and socio-economic factors known to affect fetal well-being did not interfere with these findings. No significant differences in birth-weight, length and head circumference were found between infants born to mothers with higher trait anxiety levels compared to mothers with lower trait anxiety levels. Our results suggest that maternal stress, in terms of trait anxiety, influences fetal cerebral circulation.
Asunto(s)
Trastornos de Ansiedad/complicaciones , Arterias Cerebrales/fisiología , Hemodinámica , Madres/psicología , Complicaciones del Embarazo/fisiopatología , Arterias Umbilicales/fisiología , Adolescente , Adulto , Trastornos de Ansiedad/clasificación , Trastornos de Ansiedad/fisiopatología , Velocidad del Flujo Sanguíneo , Arterias Cerebrales/diagnóstico por imagen , Arterias Cerebrales/embriología , Estudios de Cohortes , Femenino , Frecuencia Cardíaca Fetal , Humanos , Embarazo , Complicaciones del Embarazo/psicología , Resultado del Embarazo , Tercer Trimestre del Embarazo , Estudios Prospectivos , Flujo Pulsátil , Reología , Ultrasonografía Doppler , Ultrasonografía Prenatal , Arterias Umbilicales/diagnóstico por imagen , Arterias Umbilicales/embriologíaRESUMEN
The psychological and psychosocial consequences of screening for alpha 1-antitrypsin deficiency (alpha 1 ATD) were investigated when the subjects were 5-7 years old. The present study was conducted when the subjects were 18-20 years old, the foci of interest being their health, psychosomatic problems, knowledge about alpha 1 ATD and the potential effect of that knowledge on their lives and future family planning. Samples of 61 PiZ and 61 demographically matched control subjects, 18-20 years old, were asked to participate. Written, structured questionnaires covered the following items: basic familial characteristics, psychosomatic symptoms, opinions on medical check-ups, information and views on future alpha 1 ATD screening, whether the knowledge about alpha 1 ATD had affected the life and family planning of alpha 1 ATD individuals. Items concerning the "alpha 1 ATD matter" were excluded in the questionnaires given to the controls. Questionnaire data were obtained from 50 alpha 1 ATD and 48 control individuals, 41 of each being matched alpha 1 ATD-control pairs. No significant differences were found in demographic or educational backgrounds, psychosomatic complaints such as headache, sleep difficulties, stomach ache, tiredness or anxiety. Lung symptoms occurred more frequently in alpha 1 ATD subjects (p = 0.05). Six per cent of the alpha 1 ATD individuals planned working careers with a high risk of air pollution. The majority (86%) of the alpha 1 ATD subjects perceived the contact with the medical services as positive; 14% as both positive and negative. The information concerning alpha 1 ATD was assessed as satisfactory by 73%, as both good and bad by 17% and as unsatisfactory by 10%. All alpha 1 ATD subjects advocated general screening for alpha 1 ATD, the neonatal period being chosen as optimal by 94%. Half of the alpha 1 ATD individuals thought that the knowledge of their high-risk condition had affected their lives, particularly their awareness of the dangers of smoking and environmental pollution. The majority, 88%, knew that they should avoid smoking to protect their lungs. In conclusion, no negative psychosocial consequences of the neonatal alpha 1 AT-screening were found in early adulthood. The alpha 1 ATD individuals were aware of the dangers of smoking and were of the opinion that alpha 1 AT-screening should be recommended.
Asunto(s)
Adaptación Psicológica , Conocimientos, Actitudes y Práctica en Salud , Estado de Salud , Inhibidores de Tripsina/deficiencia , Deficiencia de alfa 1-Antitripsina , Adolescente , Adulto , Estudios de Casos y Controles , Servicios de Planificación Familiar , Femenino , Pruebas Genéticas , Humanos , Enfermedades Pulmonares Obstructivas/genética , Masculino , Satisfacción del Paciente , Fumar/efectos adversos , Encuestas y CuestionariosRESUMEN
The serious form of alpha-1-antitrypsin deficiency (ATD) Pi ZZ strongly predisposes the individual for pulmonary emphysema and premature death in adulthood, especially if exposed to tobacco smoking. General screening of all new-born children was conducted in Sweden during 1972-1974, the major purpose being to reduce exposure of the child to parental smoking while growing up and to prevent the child from starting to smoke. Sixty-one children with ATD neonatally identified through mass-screening, and their families, have been compared with a demographically matched control group regarding smoking habits, as studied through interviews and questionnaires on two occasions. When the children were 5-7 years old, the smoking rates among parents of the ATD children and especially among the ATD fathers exceeded smoking rates for controls. Thirteen years later no differences in parental smoking were found between the groups. At 18-20 years of age the ATD children reported smoking significantly less than the control children (p < 0.05). From the perspective of prevention, the goal of the neonatal screening to reduce the smoking rates among the parents of the ATD children was not attained, while it was achieved among the ATD children. The results indicate that a screening program with early detection of ATD effectively prevents adolescent children from starting to smoke. From ethical, medical and psychological points of view, a voluntary screening program for ATD in pre-adolescence is recommended.
Asunto(s)
Fumar , Contaminación por Humo de Tabaco , Deficiencia de alfa 1-Antitripsina , Adolescente , Niño , Humanos , Recién Nacido , Tamizaje Masivo , Errores Innatos del Metabolismo/prevención & control , Prevención Primaria , Desarrollo de Programa , Factores de Riesgo , Asunción de Riesgos , Prevención del Hábito de FumarAsunto(s)
Estrés Psicológico , Deficiencia de alfa 1-Antitripsina , Adulto , Humanos , Recién Nacido , Tamizaje Masivo , Padres/psicología , SueciaRESUMEN
The identification of alpha 1 antitrypsin deficiency (ATD) by neonatal screening was hypothesized to have had negative long-term effects on the mother-child relationship. This hypothesis was tested by studying selected aspects of mother-child interaction in a structured task situation in the home, and comparing 53 cases with clinically healthy 5-7-year-old children with ATD versus 52 control cases with children without ATD. The mothers in the two groups did not differ notably from each other. However, as compared with controls, ATD-children were found to evidence considerably more problematic behavior in interacting with their mothers (being e.g. inappropriately childish, silly, precocious, inhibited, tense, irritated). The findings were interpreted as supporting the hypothesis of a negative long-term effect of identifying the child's ATD.
Asunto(s)
Relaciones Madre-Hijo , alfa 1-Antitripsina/análisis , Niño , Preescolar , Femenino , Enfermedades Genéticas Congénitas/diagnóstico , Enfermedades Genéticas Congénitas/psicología , Humanos , Fenotipo , Rechazo en Psicología , RiesgoRESUMEN
alpha 1 antitrypsin deficiency (ATD) predisposes the individual for serious lung disease in adulthood. The identification of ATD by neonatal screening was hypothesized to have negative long-term effects on the parents' attitudes and feelings associated with the child. This hypothesis was tested by comparing these attitudes and feelings of parents of 61 clinically healthy 5-7-year-old children with ATD versus those of parents of 61 control children without ATD. The data were collected by interviews in the home. No evidence was found to support the hypothesized negative effect on parental attitudes and feelings. A consistent but weak increase in positive feelings and attitudes toward the child was noted among the mothers of children with ATD.
Asunto(s)
Enfermedades Pulmonares Obstructivas/psicología , Relaciones Padres-Hijo , Rol del Enfermo , Deficiencia de alfa 1-Antitripsina , Adaptación Psicológica , Actitud Frente a la Salud , Niño , Preescolar , Femenino , Humanos , Enfermedades Pulmonares Obstructivas/genética , Masculino , Fenotipo , RiesgoRESUMEN
The identification of alpha 1 antitrypsin deficiency (ATD) by neonatal screening was hypothesized to have had negative long-term effects on the parents' relationship to the child. This hypothesis was tested by comparing selected aspects of the parent-child relationship in the families of 61 clinically healthy 5-7-year-old children with ATD versus the families of 61 control children without ATD. The data were collected by interviews with the parents in the home. In total, the evidence did not support the hypothesis of a negative effect on the parents' relationship to the child.
Asunto(s)
Enfermedades Pulmonares Obstructivas/psicología , Relaciones Padres-Hijo , Deficiencia de alfa 1-Antitripsina , Niño , Crianza del Niño , Preescolar , Humanos , Enfermedades Pulmonares Obstructivas/genética , Fenotipo , Riesgo , Rol del EnfermoRESUMEN
Country-wide neonatal screening for alpha 1-antitrypsin deficiency (ATD) was discontinued due to clinical observations of negative psychological effects on the parents. In a subsequent systematic study, hypotheses of long-term negative effects on the parents' views of the child's health and on the parents' relationship to the pediatric services were tested by comparing these characteristics in parents with a child with ATD versus control parents, studied through interviews in the home. The identification of the ATD was found to have had negatively influenced the parents' view of the child's general health, but no evidence was found of increased parental anxiety regarding the child's current health or emotional dependence on medical personnel, of increased (reported) usage of pediatric services, or of more negative attitudes toward the pediatric services.
Asunto(s)
Actitud Frente a la Salud , Relaciones Padres-Hijo , Padres/psicología , Deficiencia de alfa 1-Antitripsina , Adulto , Ansiedad/psicología , Niño , Servicios de Salud del Niño/estadística & datos numéricos , Preescolar , Padre/psicología , Femenino , Humanos , Recién Nacido , Masculino , Madres/psicología , Estrés Psicológico/psicología , SueciaRESUMEN
The identification of alpha 1 antitrypsin deficiency (ATD) in neonates was hypothesized to have negative long-term consequences on the parents' views of the children's personality characteristics. This hypothesis was tested by comparing 5-7-year-old children's personality and behavioral characteristics, as reported by parents of 61 children with ATD versus parents of 61 control children without ATD. Data were collected by both interviews in the home and temperament questionnaires. No evidence was found of the hypothesized negative effect on parental views.
Asunto(s)
Relaciones Padres-Hijo , Padres/psicología , Personalidad , Deficiencia de alfa 1-Antitripsina , Adulto , Niño , Conducta Infantil , Preescolar , Enfermedad Crónica , Femenino , Humanos , Enfermedades Pulmonares/etiología , Masculino , Fenotipo , RiesgoRESUMEN
The parents of 61 children with ATD typically attended repeated doctor's appointments concerning the child's ATD during the first years of life. Many (30-40%) of the parents felt somewhat relieved about the ATD after the first appointment. Parental attitudes toward the appointments varied considerably within the sample, being related to the physician's reported knowledgeability-understandability regarding ATD and emotional supportiveness (toward mothers). Most parents were positive and few were negative toward the child's ATD having been identified at this age. Repeated blood tests for the child's liver function were experienced negatively by most parents. The parents' recommendations concerning screening and follow-up of ATD in children are presented.
Asunto(s)
Actitud , Padres , Deficiencia de alfa 1-Antitripsina , Análisis Costo-Beneficio , Emociones , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Tamizaje Masivo , Derivación y Consulta , SueciaRESUMEN
The parents of 61 children at high somatic risk due to alpha 1 antitrypsin deficiency (ATD) were followed-up 5-7 years after the identification of the ATD and studied regarding their long-term emotional adjustment to the child's ATD. This was assessed both by a physician who interviewed the parents in their home and independently by a psychologist who systematically scored selected parts of the interview transcripts for specified variables. Notable agreement was found in the separate assessments performed by these two researchers. At follow-up, 58% of the mothers and 44% of the fathers had predominantly negative feelings (worry, guilt) about the child's ATD. About half of the mothers and a third of the fathers were judged to have poor long-term emotional adjustment. Considerable continuity was found in mothers' feelings across the 5-7 years since identification of the ATD.
Asunto(s)
Errores Innatos del Metabolismo/psicología , Padres/psicología , Ajuste Social , Deficiencia de alfa 1-Antitripsina , Femenino , Estudios de Seguimiento , Humanos , Masculino , Riesgo , Apoyo Social , Factores de TiempoRESUMEN
Visits to medical services during the first 5 years of life for 61 children with alpha 1ATD (but without liver disease) and 61 demographically similar control children without ATD were studied for frequency, diagnosis, severity of illness/complaint and extent of treatment. No significant differences were found between the ATD and control groups on any of these variables, suggesting no increased sickliness in the ATD-group and no evidence of increased parental anxiety about the child's health reflected in medical visits for little or no physical abnormality.
Asunto(s)
Servicios de Salud del Niño , Derivación y Consulta , Deficiencia de alfa 1-Antitripsina , Niño , Femenino , Necesidades y Demandas de Servicios de Salud , Humanos , Masculino , Infecciones del Sistema Respiratorio/etiología , RiesgoRESUMEN
Medical record information and retrospective parental reports at interview indicated that the 61 families were typically first contacted about the child's alpha 1-antitrypsin deficiency (ATD) during its first 6 months of life, when a physician called the mother on the telephone and told her at least something about the child's ATD. Most parents felt they had received unclear or inadequate information. A majority initially conceived of ATD as representing an imminent, serious danger to the child's health. Most of the mothers (78%) and many of the fathers (58%) reported having immediately had negative emotional reactions, most often worry, anxiety and fear. These reactions were often long-lasting and, in mothers, typically strong.
Asunto(s)
Actitud Frente a la Salud , Relaciones Profesional-Familia , Deficiencia de alfa 1-Antitripsina , Adulto , Pruebas Diagnósticas de Rutina , Emociones , Femenino , Humanos , Lactante , Masculino , Riesgo , SueciaRESUMEN
Neonatal identification of children at high somatic risk due to inherited alpha 1 antitrypsin deficiency (ATD) was hypothesized to have had negative long-term effects on the parents' attitudes toward themselves as parents and toward having more children. The parents of 61 children with ATD were followed-up and studied by interviews about 5 years after the child's ATD was identified, and compared with demographically similar parents of 61 control children without ATD. No support was found for the hypothesized negative effects on these parental attitudes.
Asunto(s)
Actitud , Errores Innatos del Metabolismo/diagnóstico , Padres/psicología , Deficiencia de alfa 1-Antitripsina , Adulto , Análisis Costo-Beneficio , Femenino , Humanos , Masculino , Persona de Mediana Edad , Relaciones Padres-Hijo , Fenotipo , Reproducción , AutoimagenRESUMEN
Neonatal identification of children at high somatic risk due to inherited alpha 1 antitrypsin deficiency (ATD) has been found to elicit a negative emotional reaction in a majority of the parents, at least initially. This sub-study was conducted to determine whether the identification and follow-up of the children's ATD had negatively influenced the families' reproduction, marital status and social class level (defined by parental occupation) during the 5 years following the identification of the children's ATD. No such negative effects were found in comparing these characteristics among 61 families with a child with ATD versus 183 control families living in the same area and having a child of the same sex and age. Unexpectedly, the ATD-children's families (fathers) had a significantly higher social class level, raising the question of a possible gene advantage associated with ATD.
Asunto(s)
Padres/psicología , Deficiencia de alfa 1-Antitripsina , Niño , Preescolar , Divorcio , Estudios de Seguimiento , Humanos , Recién Nacido , Matrimonio , Tamizaje Masivo , Relaciones Padres-Hijo , Clase Social , SueciaRESUMEN
Neonatal identification of children at high somatic risk due to inherited alpha 1 antitrypsin deficiency (ATD) was hypothesized to have had negative long-term effects on the parents' views of their own health and current life situation. The parents of 61 children with ATD were followed-up and studied by interviews about 5 years after the child's ATD was identified, and compared with demographically similar parents of 61 control children without ATD. No negative effect was found on mothers' or fathers' views of their current life situation or the fathers' own health. As compared with controls, ATD-group mothers reported significantly poorer mental and physical health during the past year, which was interpreted as a consequence of the stress associated with the identification of the child's ATD.