Goran Bodegard

Psychological Reactions in 102 Families with a Newborn Who Has a Falsely Positive Screening Test for Congenital Hypothyroidism

The potential psychological risks of falsely positive test results in neonatal screenings have not been studied previously. 20000 newborns were screened for congenital hypothyroidism. Of the 144 positive tests, 137 were false. The families of 102 babies with false positives were explored in reference to their (1) initial parental psychic reactions (emotional reactions and abilities for coping) and (2) residual reactions 6 to 12 months later. 78 families initially exhibited strong emotional reactions. Providing information about a positive screening test is therefore an acute strain to the majority. After a period of 6 to 12 months there was in 18 families persistent insecurity regarding the babys health. These concerns were linked by the family to the screening and the disease screened for. This may impair the parent–child relation and, thus, the childs development. Thus a false positive test appear to trigger in the majority a development of a psychic crisis. 12 families seemed however to have been totally untouched by the potential threat of the information. The crisis is effectively solved by most (consideration must be paid to the integrated psychological support given to all). It is not known whether the 18 risk families actually have been iatrogenically hurt or if their worries brought to attention in connection with the screening merely represent habitual psychic maladjustment.

Four-Year Follow-up of Psychological Reactions to False Positive Screening Tests for Congenital Hypothyroidism

ABSTRACT. Thirty‐two families were investigated four years after a false alarm in the neonatal screening of their newborns. Sixteen of the families showed signs of persistent anxiety 6–12 months after the screening. Thirteen of them still show anxiety after 4 years. Of the 16 without anxiety at 6–12 months, 6 show signs of anxiety now. This persistent anxiety may be related to the initial psychological trauma of the false positive screening result. Thus, 19 of the 32 families have not completely integrated their experience. Twenty‐four children were psychologically evaluated. Eight families refused to have their children examined. Twelve of the children showed disturbed behavior, 10 of these have parents who show unsatisfactory integration. Medical measures have psychological side‐effects, which may be interpreted as iatrogenic. However, the effects of an external stress depend on the individuals susceptibility to it and abilities to cope with it and use external support available. Key words: neonatal screening, false positivity, congenital hypothyroidism, parental reactions, psychological side‐effects, psychological development in 4‐year children.

I. The Development of the Hering-Breuer Inflation Reflex

The Hering‐Breuer inflation reflex has been studied in babies of varying postmenstrual ages. The strength of the reflex was assessed by relating the relative increase of the length of the breathing cycle to the transpulmonary pressure when the airway was occluded.

CONTROL OF RESPIRATION IN NEWBORN BABIES

The respiratory response to an added load, recorded as the change in amplitude of the intra‐esophageal pressure swings caused by airway occlusion has been studied in 8 babies, 30 to 42 weeks of postmenstrual age. With increasing age the response to such an occlusion was found to increase gradually and it is concluded that this is a reflection of an increasing maturation of a thoracic respiratory reflex. The results are related to similar findings in developing animals and to earlier studies on the development of the Hering‐Breuer inflation reflex in babies.

Hereditary tyrosinemia. 3. On the differential diagnosis and the lack of effect of early dietary treatment.

The clinical and biochemical findings in the case of an infant with hereditary tyrosinemia followed from birth have been reported. The child received a low protein diet from birth and a formula diet restricted in phenylalanine and tyrosine when the diagnosis was established at 54 days of age. There was a steady progress of the disease and the baby died from liver failure complicated with septicemia when he was 5½ months old. The clinical course and the biochemical findings as well as the morphological changes were typical of the acute type of the disease.

Control of respiration in newborn babies. III. Developmental changes of respiratory depth and rate responses to CO2.

ABSTRACT: Bodegård, G. (Department of Paediatrics, Karolinska Institutet, S:t Görans Childrens Hospital, Stockholm, Sweden). Control of respiration in newborn babies. III. Developmental changes of respiratory depth and rate responses to CO2. Acta Paediatr Scand, 64:684, 1975.–Thirteen healthy babies with PM ages varying between 32 and 43 weeks were investigated with regard to respiratory depth and rate changes on exposure to 4 %CO2 in air. Two different types of responses were seen: above 37 weeks of postmenstrual age, the changes of depth and rate corresponded mostly to what is known in the adult human with a rate increase appearing only when the tidal volume had increased markedly (“Type A” responses). The preterm babies (i.e. under 37 weeks of PM age) responded mostly with a prompt rate increase without any preceding increase of the tidal volume (“Type B” response). The results indicate that the preterm baby in contrast to fullterm babies and adults may be dependent on the pulmonary vagal mechanoreceptor system for the regulation of the breathing in eupnoe.

Screening for congenital hypothyroidism. II. Clinical findings in infants with positive screening tests.

ABSTRACT. Larsson, A., Ljunggren, J. G., Ekman, K., Nilsson, A., Olin, P. and Bodegard, G. (Departments of Paediatrics and Child Psychiatry, Karolinska Institute, St. Görans Childrens Hospital; the Department of Medicine, St. Görans Hospital; and the PKU Section of the Department of Bacteriology, National Bacteriological Laboratory, Stockholm, Sweden). Screening for congenital hypothyroidism. II. Clinical findings in infants with positive screening tests. Acta Paediatr Scand, 70:147, 1981.–In a pilot screening programme for congenital hypothyroidism, PKU filter paper blood samples from 20000 infants born in Stockholm were analysed for TSH and T4 to identify optimal conditions for routine nationwide screening. Among 160 infants with positive screening tests, 7 infants (group I) had true‐positive results, 6 had primary and one secondary hypothyroidism. The 153 infants with false‐positive tests were divided into group II: 74 infants with an isolated increased TSH level; group III: 71 infants with an isolated decreased T4 concentration; and group IV: 8 infants with increased TSH and decreased T4 levels. In group I the clinical signs and symptoms of hypothyroidism varied when the diagnosis was made at 3 weeks of age. The median hypothyroid index score was 8 (range 0–18). In groups II‐IV most infants showed very few signs of hypothyroidism. The median hypothyroid index scores were 1,1, and 0, respectively. Clinical findings were of little value in the individual case for distinguishing true from false positive screening tests. We suggest that nation‐wide screening should be based on TSH analyses of PKU blood samples, with a cut‐off level corresponding to 50 mU/l of plasma. Recall frequency will be 0.1 %.

Depression-withdrawal reaction in refugee children. An epidemic of a cultural-bound syndrome or an endemic of re-traumatized refugees?

Recent findings strongly repudiate that hundreds of apathetic refugee children in Sweden were malingering (1). The Ministry for Migration and Asylum 2004–06 regarded this ‘phenomenon’ as a group reaction in asylum-seeking families where illness could be of benefit. It is not a traumatic reaction since ‘the cases described in the international literature do not include refugees or ethnical minorities’!? – Medicalisation would stimulate psychic contagiousness and hospital care makes the condition worse. No guidelines or diagnostic criteria were established so the care and development of the knowledge was complicated. Little has been added since 2005 (2). Hopelessness, helplessness and time unpredictability in the family can make a child react with depression-withdrawal progressing to life-threatening stupor. Hospitalization was anyhow asserted to be the likely cause and media’s attention then caused a psychic contagion. A total of 224 children were, however, taken ill before the intense media coverage 2004. Media supposedly created the breeding ground for the alleged epidemic but certainly triggered society’s rejecting attitude that was re-traumatizing for the vulnerable refugees. The regrettable lack of proper references precludes the investigation of the relative importance of various possible pathogen factors. In 2006, the UN criticized Sweden for not offering medical care to ‘those children, associated with the asylum process who experience severe withdrawal symptoms’ (3). Neither the child and adolescent psychiatry nor the National Board for Health and Welfare in Sweden can claim to embrace a satisfactorily wide scientific or ethical stance to the ‘apathetic asylum children’. This stresses the importance of the loyalty of the individual healthcare worker to medical ethics! References 1. Aronsson B, Wiberg C, Sandstedt P, Hjern A. Asylum-seeking children with severe loss of activities of daily living: clinical signs and course during rehabilitation. Acta Paediatr 2009; 98: 1977–81. 2. Bodegård G. Pervasive loss of function in asylum-seeking children in Sweden. Acta Paediatr 2005; 94: 1706–7. 3. Hunt P. Human Rights Centre, University of Essex, Colchester, UK in Visit to Sweden of UN Special Rapporteur on the Right to the Highest Attainable Standard of Health. 21 January 2006. UN General Assembly 2007 Report No A/HRC/ 4/28/Add.2.

Control of respiration in newborn babies. IV. Rib cage stability and respiratory regulation.

ABSTRACT. The recordings from an earlier study regarding the respiratory depth and rate changes induced by exposure to 4 % CO2 in air in 13 babies with PM age varying between 32 and 43 weeks were reexamined with regard to the pattern of thoracic/abdominal breathing excursion in breathing immediately prior to the CO2 exposure and the type of response induced. The pattern was called “stable” when the thoracic breathing excursions were in phase and congruent with the abdominal ones. When the thoracic excursions in comparison with the abdominal excursions were totally inverted, or incongruous but in phase, or rapidly varying between those two, the pattern was called “unstable”. “Unstable” pattern of the breathing prior to the CO2 exposures was followed in an incidence of 60 % by the type of response to CO2 which is characterized by a prompt rate increase (the “Type B” response) and only in 16% by the type characterized by an increased breathing amplitude (the “Type A” response). When the excursion pattern of the breathing prior to the CO2 exposures was “stable”“Type A” responses were induced in 59% and “Type B” responses in only 14%. The excursion pattern present when a baby is exposed to 4 % CO2 thus seems to affect the type of respiratory depth and rate changes achieved. With increasing post menstrual age the excursion pattern of the spontaneous breathing is more often “stable” and respiratory depth and rate changes of the “Type B” induced by CO2 less common. The variabilities of the breathing seen preferably in the preterm baby regarding regularity, rate and tidal volumes (as they could be approximated by the registration methods used) were noted most when the excursion pattern was “unstable”. The results can be hypothetically interpreted to indicate a dynamic interaction between the thoracic wall and pulmonary mechanoreceptor systems of respiratory regulation. The decreasing variability of the breathing seen with increasing maturation in the baby could be explained by an increasing maturation of the neuromuscular ability to provide stability to the rib cage which would act stabilizing on the pulmonary vagal afferent input to the respiratory center.

Children with Inborn Errors of Phenylalanine Metabolism: Prognosis and Phenylalanine Tolerance

ABSTRACT. Twenty‐three children, who were detected by neonatal PKU screening, were followed for 8‐18 years in one paediatric centre. Dietary treatment was started if the blood phenylalanine level exceeded 0.72 mmolA. All 23 infants were initially given a low phenylalanine diet. The growth and development rates of the children did not differ significantly from those in a reference population, although one child had mild mental retardation and another had a short attention span. Fourteen children were still on a strict phenylalanine‐restricted diet on their last follow‐up (at 8‐18 years of age). In nine children who were initially put on a low phenylalanine diet, it was possible to normalize the diet between 1/2 and 10 years of age, while maintaining the blood phenylalanine levels between 0.25 and 0.72 mmol/1. It seems likely that those of our patients who markedly increased their phenylalanine tolerance during childhood had a regulatory mutation of the phenylalanine hydroxylase system. A continuous reevaluation of each child treated with a low phenylalanine diet reduces the use of unnecessarily restricted diets.