T. Thelin

Young adults with α1antitrypsin deficiency identified neonatally: their health, knowledge about and adaptation to the high‐risk condition

The psychological and psychosocial consequences of screening for α1‐antitrypsin deficiency (α1 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 α1ATD 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 α1ATD screening, whether the knowledge about α1ATD had affected the life and family planning of α1ATD individuals. Items concerning the “α1ATD matter” were excluded in the questionnaires given to the controls. Questionnaire data were obtained from 50 α1 ATD and 48 control individuals, 41 of each being matched α1ATD‐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 α1ATD subjects (p= 0.05). Six per cent of the α1ATD individuals planned working careers with a high risk of air pollution. The majority (86%) of the α1ATD subjects perceived the contact with the medical services as positive; 14% as both positive and negative. The information concerning α1ATD was assessed as satisfactory by 73%, as both good and bad by 17% and as unsatisfactory by 10%. All α1ATD subjects advocated general screening for α1ATD, the neonatal period being chosen as optimal by 94%. Half of the α1ATD 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 α1AT‐screening were found in early adulthood. The α1ATD individuals were aware of the dangers of smoking and were of the opinion that α1 AT‐screening should be recommended.

Psychological Consequences of Neonatal Screening for α1Antitrypsin Deficiency (ATD).: Parental Attitudes toward "ATD-Check-ups" and Parental Recommendations Regarding Future Screening

ABSTRACT. The parents of 61 children with ATD typically attended repeated doctors appointments concerning the childs 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 physicians reported knowledgeability‐understandability regarding ATD and emotional supportiveness (toward mothers). Most parents were positive and few were negative toward the childs ATD having been identified at this age. Repeated blood tests for the childs liver function were experienced negatively by most parents. The parents’recommendations concerning screening and follow‐up of ATD in children are presented.

Clinical Follow-up and Parental Attitudes Towards Neonatal Screening

ABSTRACT. Sveger, T. and Thelin, T. (Departments of Paediatrics and Psychiatry, University of Lund, Malmö General Hospital, Malmö, Sweden). Four‐year‐old children with α1‐antitrypsin deficiency. Acta Paediatr Scand, 70:171, 1980. –Two hundred thousand infants born in Sweden between November 1972 and September 1974 were screened at birth for a,‐antitrypsin (a, AT) deficiency. At age 4 years 172 of 183 children with a, AT deficiency were examined and compared with 80 randomly selected control children. The children with a, AT deficiency had the following Pi types: 118 PiZ, 50 PiSZ, 2 PiZ‐, 1 PiS‐, and 1 PiFZ. Two PiZ children have severe liver cirrhosis and 1 PiZ boy had died of aplastic anemia. Abnormal levels of serum alanine aminotransferase (S‐ALAT) were found in one PiSZ and 47 PiZ children. Upper and lower respiratory infections, otitis, eczema, urinary infections or complications of child diseases did not occur more often in children with α1 AT deficiency than in controls. More parents of α1 AT deficient children had stopped smoking and their fathers smoked significantly less. Forty parents of children with α1 AT deficiency PiZ answered a questionnaire concerning their reaction to, knowledge about and attitudes towards neonatal screening for α1 AT deficiency. Many parents reported having reacted with lack of understanding, shock or depression upon learning that the child had α1 AT deficiency. About 4 years later 44 % reported still lack of understanding, and 18 % depression or feelings of guilt. About two‐thirds had not fully understood why a, AT deficiency had been identified, despite the fact that they had seen their doctor 3–4 times for check‐ups and counselling since birth.

Primary prevention in a high-risk group : smoking habits in adolescents with homozygous alpha-1-antitrypsin deficiency (ATD)

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.

Neonatal α1-antitrypsin screening: parents' views and reactions 20 years after the identification of the deficiency state

During 1972–74, 200 000 Swedish neonates were screened for α1‐antitrypsin deficiency (α1ATD). The parents of the 22–23‐y‐old α1ATD 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 α1ATD and MC parents, 85 α1ATD 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 α1ATD individuals was assessed as positive or very positive by 84% of the parents. About 70% of the parents thought that the awareness of their childs α1ATD had affected their lives, the most common comment being an increased consciousness of smoky and dusty environments. No significant difference between α1ATD and control parents was found concerning worry about the childs health and future. When asked about symptoms related to their mental health, no difference was found concerning headache, sleep problems, stomach troubles or tiredness. α1ATD mothers had statistically significantly more anxiety than control mothers (χ2p < 0.01, Wilcoxon p < 0.02). The knowledge derived from the present and previous parts of the α1AT screening study is important with regard to presymptomatic testing for adult‐onset disease in children.

Identifying children at high somatic risk: long-term effects on mother-child interaction

The identification of α1 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 childs ATD.

A future for neonatal α1-antitrypsin screening?

A WHO expert group recommends neonatal screening for α1‐antitrypsin deficiency (α1ATD). Homozygous α1ATD 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 α1AT screening programme and subsequent information and advice prevented the majority of adolescents from starting to smoke. The involved parents and α1ATD adolescents retrospectively recommended neonatal screening. Potential advantages of neonatal α1AT 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 α1ATD close to the age when smoking may start, and possibility for the child to take part in the screening decision. Disadvantages of α1AT screening are: psychosocial reactions–the mother probably being most vulnerable in the neonatal period–and discrimination by insurance companies and employers.

Psychological Factors in Cost-Benefit Analysis of Somatic Prevention

ABSTRACT. Nation‐wide neonatal screening for α1‐antitrypsin deficiency (ATD) in Sweden was discontinued due to observations that identification of ATD in newborns seemed in some cases to have negative psychological effects on the parents and the parent‐child relationship. A multifaceted study was developed to investigate systematically the psychological and psychosocial consequences of the identification of ATD in the neonatal period, as studied five to seven years after it took place. The studys basic goals, hypotheses, design, samples and methods are described.

Psychological consequences of neonatal screening for alpha 1-antitrypsin deficiency. Parental reactions to the first news of their infants' deficiency.

ABSTRACT. Medical record information and retrospective parental reports at interview indicated that the 61 families were typically first contacted about the childs α1‐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 childs 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 childs 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.

A Risk Group's Visits to Medical Services: Five Years’Usage of Well‐Baby and Medical Clinics by a Group of Children with a1‐Antitrypsin Deficiency

ABSTRACT. Visits to medical services during the first 5 years of life for 61 children with a, ATD (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 childs health reflected in medical visits for little or no physical abnormality.